gene_symbol condition_key condition_label condition_db_ids condition_PLP_record_count condition_unique_coordinate_count record_to_unique_coordinate_ratio condition_support_status condition_record_threshold condition_not_provided_records multi_condition_record_rows raw_condition_label_examples gene_ClinVar_PL_record_count gene_semantic_class_prePAExact gene_public_label gene_class_group gene_low_record_burden_flag browser_detail_page NF1 mondo_mondo_0018975_medgen_c0027831_omim_162200_orphanet_636 Neurofibromatosis, type 1 MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200,Orphanet:636 4600 4600 1.0000 condition_architecture_interpretable 20 0 1456 Neurofibromatosis,_type_1 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TTN mondo_mondo_0011400_medgen_c1858763_omim_604145_orphanet_154 Dilated cardiomyopathy 1G MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154 4510 4510 1.0000 condition_architecture_interpretable 20 0 4117 Dilated_cardiomyopathy_1G 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN mondo_mondo_0012127_medgen_c1837342_omim_608807_orphanet_140922 Autosomal recessive limb-girdle muscular dystrophy type 2J MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922 4105 4105 1.0000 condition_architecture_interpretable 20 0 4078 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J 5807 large_gene_or_donor_burden_stress_case donor_burden_stress BRCA2 mondo_mondo_0012933_medgen_c2675520_omim_612555_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 2 MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145 3395 3395 1.0000 condition_architecture_interpretable 20 0 2378 Breast-ovarian_cancer,_familial,_susceptibility_to,_2 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 3209 3209 1.0000 condition_architecture_interpretable 20 0 2432 Hereditary_breast_ovarian_cancer_syndrome 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FBN1 mondo_mondo_0007947_medgen_c0024796_omim_154700_orphanet_284963_orphanet_558 Marfan syndrome MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558 2904 2904 1.0000 condition_architecture_interpretable 20 0 2202 Marfan_syndrome 3554 large_gene_or_donor_burden_stress_case donor_burden_stress BRCA1 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 1 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 2883 2883 1.0000 condition_architecture_interpretable 20 0 1892 Breast-ovarian_cancer,_familial,_susceptibility_to,_1 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 2743 2743 1.0000 condition_architecture_interpretable 20 0 2205 Hereditary_cancer-predisposing_syndrome 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM mondo_mondo_0008840_medgen_c0004135_omim_208900_orphanet_100 Ataxia-telangiectasia syndrome MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100 2437 2437 1.0000 condition_architecture_interpretable 20 0 1545 Ataxia-telangiectasia_syndrome 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FBN1 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 2364 2364 1.0000 condition_architecture_interpretable 20 0 2149 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 3554 large_gene_or_donor_burden_stress_case donor_burden_stress BRCA1 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 2145 2145 1.0000 condition_architecture_interpretable 20 0 1698 Hereditary_breast_ovarian_cancer_syndrome 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC mondo_mondo_0021056_medgen_c2713442_omim_175100 Familial adenomatous polyposis 1 MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 2057 2057 1.0000 condition_architecture_interpretable 20 0 906 Familial_adenomatous_polyposis_1 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1908 1908 1.0000 condition_architecture_interpretable 20 0 1382 Hereditary_cancer-predisposing_syndrome 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1824 1824 1.0000 condition_architecture_interpretable 20 0 1379 Familial_cancer_of_breast 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1784 1784 1.0000 condition_architecture_interpretable 20 0 1485 Hereditary_cancer-predisposing_syndrome 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PKD1 mondo_mondo_0008263_medgen_c3149841_omim_173900 Polycystic kidney disease, adult type MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900 1616 1616 1.0000 condition_architecture_interpretable 20 0 414 Polycystic_kidney_disease,_adult_type 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DMD mondo_mondo_0010679_medgen_c0013264_omim_310200_orphanet_98896 Duchenne muscular dystrophy MONDO:MONDO:0010679,MedGen:C0013264,OMIM:310200,Orphanet:98896 1600 1600 1.0000 condition_architecture_interpretable 20 0 572 Duchenne_muscular_dystrophy 2119 large_gene_or_donor_burden_stress_case donor_burden_stress NEB mondo_mondo_0009725_medgen_c1850569_omim_256030 Nemaline myopathy 2 MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030 1554 1554 1.0000 condition_architecture_interpretable 20 0 481 Nemaline_myopathy_2 1871 large_gene_or_donor_burden_stress_case donor_burden_stress LDLR mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1532 1532 1.0000 condition_architecture_interpretable 20 0 763 Hypercholesterolemia,_familial,_1 1933 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 1450 1450 1.0000 condition_record_support_limited 20 1450 1354 not_provided|not_specified 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control USH2A condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 1383 1383 1.0000 condition_record_support_limited 20 1383 751 See_cases|not_provided|not_specified 2100 large_gene_or_donor_burden_stress_case donor_burden_stress NF1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1362 1362 1.0000 condition_architecture_interpretable 20 0 1332 Hereditary_cancer-predisposing_syndrome 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH6 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1324 1324 1.0000 condition_architecture_interpretable 20 0 877 Hereditary_cancer-predisposing_syndrome 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH2 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1319 1319 1.0000 condition_architecture_interpretable 20 0 815 Hereditary_cancer-predisposing_syndrome 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CFTR mondo_mondo_0009061_medgen_c0010674_omim_219700_orphanet_586 Cystic fibrosis MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586 1288 1288 1.0000 condition_architecture_interpretable 20 0 760 Cystic_fibrosis 1471 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NF1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1236 1236 1.0000 condition_architecture_interpretable 20 0 1236 Cardiovascular_phenotype 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ABCA4 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 1199 1199 1.0000 condition_record_support_limited 20 1199 548 See_cases|not_provided|not_specified 1464 large_gene_or_donor_burden_stress_case donor_burden_stress PALB2 mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1172 1172 1.0000 condition_architecture_interpretable 20 0 673 Familial_cancer_of_breast 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 1169 1169 1.0000 condition_record_support_limited 20 1169 942 See_cases|not_provided|not_specified 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TTN cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1167 1167 1.0000 condition_architecture_interpretable 20 0 728 Cardiovascular_phenotype 5807 large_gene_or_donor_burden_stress_case donor_burden_stress SCN1A mondo_mondo_0800491_medgen_c0393706_orphanet_1934 Early-infantile DEE MONDO:MONDO:0800491,MedGen:C0393706,Orphanet:1934 1132 1132 1.0000 condition_architecture_interpretable 20 0 385 Early-infantile_DEE 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKHD1 mondo_mondo_0009889_mesh_d017044_medgen_c0085548_orphanet_731_orphanet_8378 Autosomal recessive polycystic kidney disease MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378 1124 1124 1.0000 condition_architecture_interpretable 20 0 446 Autosomal_recessive_polycystic_kidney_disease 1558 large_gene_or_donor_burden_stress_case donor_burden_stress MSH6 mondo_mondo_0013710_medgen_c1833477_omim_614350_orphanet_144 Lynch syndrome 5 MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144 1114 1114 1.0000 condition_architecture_interpretable 20 0 873 Lynch_syndrome_5 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MLH1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1103 1103 1.0000 condition_architecture_interpretable 20 0 716 Hereditary_cancer-predisposing_syndrome 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control GLA human_phenotype_ontology_hp_0001071_mondo_mondo_0010526_medgen_c0002986_omim_301500_orphanet_324 Fabry disease Human_Phenotype_Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324 1089 1089 1.0000 condition_architecture_interpretable 20 0 270 Fabry_disease 1115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSC2 mondo_mondo_0013199_medgen_c1860707_omim_613254_orphanet_805 Tuberous sclerosis 2 MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805 1084 1084 1.0000 condition_architecture_interpretable 20 0 506 Tuberous_sclerosis_2 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH6 mesh_d003123_medgen_c0009405 Hereditary nonpolyposis colorectal neoplasms MeSH:D003123,MedGen:C0009405 1072 1072 1.0000 condition_architecture_interpretable 20 0 812 Hereditary_nonpolyposis_colorectal_neoplasms 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 1063 1063 1.0000 condition_record_support_limited 20 1063 975 not_provided|not_specified 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TTN condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 1058 1058 1.0000 condition_record_support_limited 20 1058 696 See_cases|not_provided|not_specified 5807 large_gene_or_donor_burden_stress_case donor_burden_stress APC mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1035 1035 1.0000 condition_architecture_interpretable 20 0 740 Hereditary_cancer-predisposing_syndrome 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1011 1011 1.0000 condition_architecture_interpretable 20 0 964 Familial_cancer_of_breast 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH2 mondo_mondo_0007356_medgen_c2936783_omim_120435_orphanet_144 Lynch syndrome 1 MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144 1000 1000 1.0000 condition_architecture_interpretable 20 0 792 Lynch_syndrome_1 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control COL1A1 mondo_mondo_0008146_medgen_c0023931_omim_166200_orphanet_216796_orphanet_666 Osteogenesis imperfecta type I MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200,Orphanet:216796,Orphanet:666 999 999 1.0000 condition_architecture_interpretable 20 0 297 Osteogenesis_imperfecta_type_I 1430 large_gene_or_donor_burden_stress_case donor_burden_stress LDLR mondo_mondo_0005439_medgen_c0020445_omim_ps143890 Familial hypercholesterolemia MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 979 979 1.0000 condition_architecture_interpretable 20 0 731 Familial_hypercholesterolemia 1933 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 mondo_mondo_0008840_medgen_c0004135_omim_208900_orphanet_100 Ataxia-telangiectasia syndrome MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100 966 966 1.0000 condition_architecture_interpretable 20 0 613 Ataxia-telangiectasia_syndrome 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VPS13B mondo_mondo_0008999_medgen_c0265223_omim_216550_orphanet_193 Cohen syndrome MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193 943 943 1.0000 condition_architecture_interpretable 20 0 123 Cohen_syndrome 996 large_gene_or_donor_burden_stress_case donor_burden_stress USH2A mondo_mondo_0010169_medgen_c1848634_omim_276901_orphanet_231178_orphanet_886 Usher syndrome type 2A MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886 931 931 1.0000 condition_architecture_interpretable 20 0 691 Usher_syndrome_type_2A 2100 large_gene_or_donor_burden_stress_case donor_burden_stress ALMS1 mondo_mondo_0008763_medgen_c0268425_omim_203800_orphanet_64 Alstrom syndrome MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64 921 921 1.0000 condition_architecture_interpretable 20 0 143 Alstrom_syndrome 999 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PAH mondo_mondo_0009861_medgen_c0031485_omim_261600_orphanet_716 Phenylketonuria MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716 878 878 1.0000 condition_architecture_interpretable 20 0 443 Phenylketonuria 886 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MLH1 mondo_mondo_0012249_medgen_c1333991_omim_609310_orphanet_144 Colorectal cancer, hereditary nonpolyposis, type 2 MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310,Orphanet:144 868 868 1.0000 condition_architecture_interpretable 20 0 702 Colorectal_cancer,_hereditary_nonpolyposis,_type_2 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control COL2A1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 850 850 1.0000 condition_record_support_limited 20 850 159 See_cases|not_provided|not_specified 1101 large_gene_or_donor_burden_stress_case donor_burden_stress CHEK2 mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 849 849 1.0000 condition_architecture_interpretable 20 0 374 Familial_cancer_of_breast 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control USH2A mondo_mondo_0013436_medgen_c3151138_omim_613809_orphanet_791 Retinitis pigmentosa 39 MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791 848 848 1.0000 condition_architecture_interpretable 20 0 682 Retinitis_pigmentosa_39 2100 large_gene_or_donor_burden_stress_case donor_burden_stress ATP7B mondo_mondo_0010200_medgen_c0019202_omim_277900_orphanet_905 Wilson disease MONDO:MONDO:0010200,MedGen:C0019202,OMIM:277900,Orphanet:905 838 838 1.0000 condition_architecture_interpretable 20 0 171 Wilson_disease 858 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A5 mondo_mondo_0010520_medgen_c4746986_omim_301050_orphanet_63_orphanet_88917 X-linked Alport syndrome MONDO:MONDO:0010520,MedGen:C4746986,OMIM:301050,Orphanet:63,Orphanet:88917 825 825 1.0000 condition_architecture_interpretable 20 0 274 X-linked_Alport_syndrome 1369 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH5 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 823 823 1.0000 condition_architecture_interpretable 20 0 184 Primary_ciliary_dyskinesia 1093 large_gene_or_donor_burden_stress_case donor_burden_stress MSH2 mesh_d003123_medgen_c0009405 Hereditary nonpolyposis colorectal neoplasms MeSH:D003123,MedGen:C0009405 819 819 1.0000 condition_architecture_interpretable 20 0 673 Hereditary_nonpolyposis_colorectal_neoplasms 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PKHD1 mondo_mondo_0033004_medgen_c4540575_omim_263200 Polycystic kidney disease 4 MONDO:MONDO:0033004,MedGen:C4540575,OMIM:263200 807 807 1.0000 condition_architecture_interpretable 20 0 437 Polycystic_kidney_disease_4 1558 large_gene_or_donor_burden_stress_case donor_burden_stress CFTR mondo_mondo_7770004_medgen_c5924204 CFTR-related disorder MONDO:MONDO:7770004,MedGen:C5924204 806 806 1.0000 condition_architecture_interpretable 20 0 685 CFTR-related_disorder 1471 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL3A1 mondo_mondo_0017314_medgen_c0268338_omim_130050_orphanet_286 Ehlers-Danlos syndrome, type 4 MONDO:MONDO:0017314,MedGen:C0268338,OMIM:130050,Orphanet:286 790 790 1.0000 condition_architecture_interpretable 20 0 215 Ehlers-Danlos_syndrome,_type_4 937 large_gene_or_donor_burden_stress_case donor_burden_stress IDS mondo_mondo_0010674_medgen_c0026705_omim_309900_orphanet_580_orphanet_79388 Mucopolysaccharidosis, MPS-II MONDO:MONDO:0010674,MedGen:C0026705,OMIM:309900,Orphanet:580,Orphanet:79388 782 782 1.0000 condition_architecture_interpretable 20 0 51 Mucopolysaccharidosis,_MPS-II 793 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PALB2 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 779 779 1.0000 condition_architecture_interpretable 20 0 625 Hereditary_cancer-predisposing_syndrome 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RB1 human_phenotype_ontology_hp_0009919_mondo_mondo_0008380_mesh_d012175_medgen_c0035335_omim_180200_orphanet_790 Retinoblastoma Human_Phenotype_Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:790 776 776 1.0000 condition_architecture_interpretable 20 0 192 Retinoblastoma 947 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MLH1 mesh_d003123_medgen_c0009405 Hereditary nonpolyposis colorectal neoplasms MeSH:D003123,MedGen:C0009405 765 765 1.0000 condition_architecture_interpretable 20 0 618 Hereditary_nonpolyposis_colorectal_neoplasms 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control C11ORF65 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 764 764 1.0000 condition_architecture_interpretable 20 0 553 Hereditary_cancer-predisposing_syndrome 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBN1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 750 750 1.0000 condition_record_support_limited 20 750 510 See_cases|not_provided|not_specified 3554 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 condition_not_provided condition not provided .|MedGen:C3661900 749 749 1.0000 condition_record_support_limited 20 749 304 See_cases|not_provided 1079 large_gene_or_donor_burden_stress_case donor_burden_stress SACS mondo_mondo_0010041_medgen_c1849140_omim_270550_orphanet_98 Charlevoix-Saguenay spastic ataxia MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550,Orphanet:98 748 748 1.0000 condition_architecture_interpretable 20 0 212 Charlevoix-Saguenay_spastic_ataxia 990 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL4A5 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 746 746 1.0000 condition_record_support_limited 20 746 275 See_cases|not_provided|not_specified 1369 large_gene_or_donor_burden_stress_case donor_burden_stress BRIP1 mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 723 723 1.0000 condition_architecture_interpretable 20 0 556 Familial_cancer_of_breast 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control GAA mondo_mondo_0009290_medgen_c0017921_omim_232300_orphanet_365 Glycogen storage disease, type II MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365 720 720 1.0000 condition_architecture_interpretable 20 0 254 Glycogen_storage_disease,_type_II 739 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 717 717 1.0000 condition_architecture_interpretable 20 0 435 Hypertrophic_cardiomyopathy 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DMD condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 716 716 1.0000 condition_record_support_limited 20 716 426 See_cases|not_provided|not_specified 2119 large_gene_or_donor_burden_stress_case donor_burden_stress C11ORF65 mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 707 707 1.0000 condition_architecture_interpretable 20 0 538 Familial_cancer_of_breast 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYS condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 698 698 1.0000 condition_record_support_limited 20 698 358 not_provided|not_specified 1068 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TP53 mondo_mondo_0018875_medgen_c0085390_omim_ps151623_orphanet_524 Li-Fraumeni syndrome MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524 694 694 1.0000 condition_architecture_interpretable 20 0 425 Li-Fraumeni_syndrome 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN mondo_mondo_0017623_mesh_d006223_medgen_c1959582_orphanet_306498 PTEN hamartoma tumor syndrome MONDO:MONDO:0017623,MeSH:D006223,MedGen:C1959582,Orphanet:306498 682 682 1.0000 condition_architecture_interpretable 20 0 449 PTEN_hamartoma_tumor_syndrome 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PHEX condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 667 667 1.0000 condition_record_support_limited 20 667 155 See_cases|not_provided 842 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DICER1 mondo_mondo_0100216_medgen_c3839822_orphanet_284343 DICER1-related tumor predisposition MONDO:MONDO:0100216,MedGen:C3839822,Orphanet:284343 644 644 1.0000 condition_architecture_interpretable 20 0 216 DICER1-related_tumor_predisposition 833 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PKD1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 640 640 1.0000 condition_record_support_limited 20 640 342 See_cases|not_provided|not_specified 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FANCA mondo_mondo_0009215_medgen_c3469521_omim_227650_orphanet_84 Fanconi anemia complementation group A MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84 638 638 1.0000 condition_architecture_interpretable 20 0 329 Fanconi_anemia_complementation_group_A 955 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP290 mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 Meckel-Gruber syndrome MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 625 625 1.0000 condition_architecture_interpretable 20 0 625 Meckel-Gruber_syndrome 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Nephronophthisis Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 624 624 1.0000 condition_architecture_interpretable 20 0 624 Nephronophthisis 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 624 624 1.0000 condition_architecture_interpretable 20 0 624 Joubert_syndrome 949 large_gene_or_donor_burden_stress_case donor_burden_stress SCN1A condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 621 621 1.0000 condition_record_support_limited 20 621 287 See_cases|not_provided|not_specified 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FANCA mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 Fanconi anemia MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 620 620 1.0000 condition_architecture_interpretable 20 0 338 Fanconi_anemia 955 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATM condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 619 619 1.0000 condition_record_support_limited 20 619 561 not_provided|not_specified 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control EYS mondo_mondo_0011272_medgen_c1864446_omim_602772_orphanet_791 Retinitis pigmentosa 25 MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791 613 613 1.0000 condition_architecture_interpretable 20 0 347 Retinitis_pigmentosa_25 1068 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NPC1 mondo_mondo_0009757_medgen_c3179455_omim_257220_orphanet_646 Niemann-Pick disease, type C1 MONDO:MONDO:0009757,MedGen:C3179455,OMIM:257220,Orphanet:646 606 606 1.0000 condition_architecture_interpretable 20 0 138 Niemann-Pick_disease,_type_C1 634 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGL mondo_mondo_0009291_medgen_c0017922_omim_232400_orphanet_366 Glycogen storage disease type III MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366 605 605 1.0000 condition_architecture_interpretable 20 0 59 Glycogen_storage_disease_type_III 624 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MLH1 mondo_mondo_0005835_medgen_c4552100_orphanet_144 Lynch syndrome MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144 596 596 1.0000 condition_architecture_interpretable 20 0 430 Lynch_syndrome 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMS2 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 594 594 1.0000 condition_architecture_interpretable 20 0 404 Hereditary_cancer-predisposing_syndrome 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control DSP mondo_mondo_0011581_medgen_c1854063_omim_605676_orphanet_65282 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282 582 582 1.0000 condition_architecture_interpretable 20 0 558 Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TSC1 mondo_mondo_0008612_medgen_c1854465_omim_191100_orphanet_805 Tuberous sclerosis 1 MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100,Orphanet:805 581 581 1.0000 condition_architecture_interpretable 20 0 221 Tuberous_sclerosis_1 739 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NEB mondo_mondo_0030281_medgen_c5543431_omim_619334 Arthrogryposis multiplex congenita 6 MONDO:MONDO:0030281,MedGen:C5543431,OMIM:619334 581 581 1.0000 condition_architecture_interpretable 20 0 391 Arthrogryposis_multiplex_congenita_6 1871 large_gene_or_donor_burden_stress_case donor_burden_stress SCN1A mondo_mondo_0100135_medgen_c0751122_omim_607208_orphanet_33069 Severe myoclonic epilepsy in infancy MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208,Orphanet:33069 580 580 1.0000 condition_architecture_interpretable 20 0 293 Severe_myoclonic_epilepsy_in_infancy 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSP mondo_mondo_0011831_medgen_c1843896_omim_607450 Arrhythmogenic right ventricular dysplasia 8 MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450 573 573 1.0000 condition_architecture_interpretable 20 0 549 Arrhythmogenic_right_ventricular_dysplasia_8 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 mondo_mondo_0008965_medgen_c0265354_orphanet_138 CHARGE syndrome MONDO:MONDO:0008965,MedGen:C0265354,Orphanet:138 570 570 1.0000 condition_architecture_interpretable 20 0 112 CHARGE_syndrome 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO7A condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 565 565 1.0000 condition_record_support_limited 20 565 291 See_cases|not_provided|not_specified 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MECP2 mondo_mondo_0010726_medgen_c0035372_omim_312750_orphanet_3095_orphanet_778 Rett syndrome MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:3095,Orphanet:778 561 561 1.0000 condition_architecture_interpretable 20 0 238 Rett_syndrome 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KMT2D mondo_mondo_0007843_medgen_cn030661_omim_147920_orphanet_2322 Kabuki syndrome 1 MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322 555 555 1.0000 condition_architecture_interpretable 20 0 140 Kabuki_syndrome_1 1026 large_gene_or_donor_burden_stress_case donor_burden_stress TP53 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 554 554 1.0000 condition_architecture_interpretable 20 0 387 Hereditary_cancer-predisposing_syndrome 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTCH1 mondo_mondo_0007187_medgen_c0004779_omim_ps109400_orphanet_377 Gorlin syndrome MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377 550 550 1.0000 condition_architecture_interpretable 20 0 122 Gorlin_syndrome 736 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMA2 mondo_mondo_0100228_medgen_c5679788 LAMA2-related muscular dystrophy MONDO:MONDO:0100228,MedGen:C5679788 548 548 1.0000 condition_architecture_interpretable 20 0 226 LAMA2-related_muscular_dystrophy 953 large_gene_or_donor_burden_stress_case donor_burden_stress BLM mondo_mondo_0008876_medgen_c0005859_omim_210900_orphanet_125 Bloom syndrome MONDO:MONDO:0008876,MedGen:C0005859,OMIM:210900,Orphanet:125 539 539 1.0000 condition_architecture_interpretable 20 0 139 Bloom_syndrome 583 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control LZTR1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 538 538 1.0000 condition_record_support_limited 20 538 308 See_cases|not_provided|not_specified 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTEN mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 537 537 1.0000 condition_architecture_interpretable 20 0 370 Hereditary_cancer-predisposing_syndrome 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control DYSF mondo_mondo_0016145_medgen_c2931687_orphanet_207073 Neuromuscular disease caused by qualitative or quantitative defects of dysferlin MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073 525 525 1.0000 condition_architecture_interpretable 20 0 304 Neuromuscular_disease_caused_by_qualitative_or_quantitative_defects_of_dysferlin 913 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 ryr1_related_disorder RYR1-related disorder MedGen:CN239331 520 520 1.0000 condition_architecture_interpretable 20 0 195 RYR1-related_disorder 770 large_gene_or_donor_burden_stress_case donor_burden_stress MSH2 mondo_mondo_0005835_medgen_c4552100_orphanet_144 Lynch syndrome MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144 519 519 1.0000 condition_architecture_interpretable 20 0 383 Lynch_syndrome 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control LAMA2 mondo_mondo_0011925_medgen_c1263858_omim_607855_orphanet_258 Merosin deficient congenital muscular dystrophy MONDO:MONDO:0011925,MedGen:C1263858,OMIM:607855,Orphanet:258 515 515 1.0000 condition_architecture_interpretable 20 0 390 Merosin_deficient_congenital_muscular_dystrophy 953 large_gene_or_donor_burden_stress_case donor_burden_stress PTEN mondo_mondo_0008021_medgen_cn072330_omim_158350 Cowden syndrome 1 MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350 513 513 1.0000 condition_architecture_interpretable 20 0 318 Cowden_syndrome_1 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRIP1 mondo_mondo_0012187_medgen_c1836860_omim_609054_orphanet_84 Fanconi anemia complementation group J MONDO:MONDO:0012187,MedGen:C1836860,OMIM:609054,Orphanet:84 507 507 1.0000 condition_architecture_interpretable 20 0 505 Fanconi_anemia_complementation_group_J 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control F8 mondo_mondo_0010602_medgen_c0019069_omim_306700_orphanet_98878 Hereditary factor VIII deficiency disease MONDO:MONDO:0010602,MedGen:C0019069,OMIM:306700,Orphanet:98878 505 505 1.0000 condition_architecture_interpretable 20 0 112 Hereditary_factor_VIII_deficiency_disease 641 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture APC condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 504 504 1.0000 condition_record_support_limited 20 504 422 not_provided|not_specified 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ACADVL mondo_mondo_0008723_medgen_c3887523_omim_201475_orphanet_26793 Very long chain acyl-CoA dehydrogenase deficiency MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475,Orphanet:26793 504 504 1.0000 condition_architecture_interpretable 20 0 92 Very_long_chain_acyl-CoA_dehydrogenase_deficiency 513 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG11 mondo_mondo_0011445_medgen_c1858479_omim_604360_orphanet_2822 Hereditary spastic paraplegia 11 MONDO:MONDO:0011445,MedGen:C1858479,OMIM:604360,Orphanet:2822 502 502 1.0000 condition_architecture_interpretable 20 0 190 Hereditary_spastic_paraplegia_11 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BARD1 mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 501 501 1.0000 condition_architecture_interpretable 20 0 249 Familial_cancer_of_breast 610 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRV1 condition_not_provided condition not provided MedGen:C3661900 501 501 1.0000 condition_record_support_limited 20 501 97 not_provided 650 large_gene_or_donor_burden_stress_case donor_burden_stress TSC2 mondo_mondo_0001734_medgen_c0041341_omim_ps191100_orphanet_805 Tuberous sclerosis syndrome MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805 499 499 1.0000 condition_architecture_interpretable 20 0 462 Tuberous_sclerosis_syndrome 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control LDLR cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 496 496 1.0000 condition_architecture_interpretable 20 0 444 Cardiovascular_phenotype 1933 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEN1 mondo_mondo_0007540_mesh_d018761_medgen_c0025267_omim_131100_orphanet_652 Multiple endocrine neoplasia, type 1 MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:652 495 495 1.0000 condition_architecture_interpretable 20 0 217 Multiple_endocrine_neoplasia,_type_1 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CDH1 mondo_mondo_0007648_medgen_c1708349_omim_137215_orphanet_26106 Hereditary diffuse gastric adenocarcinoma MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:26106 495 495 1.0000 condition_architecture_interpretable 20 0 225 Hereditary_diffuse_gastric_adenocarcinoma 622 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FLNC mondo_mondo_0014883_medgen_c4310749_omim_617047_orphanet_75249 Hypertrophic cardiomyopathy 26 MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249 490 490 1.0000 condition_architecture_interpretable 20 0 457 Hypertrophic_cardiomyopathy_26 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL mondo_mondo_0007387_medgen_c4551851_omim_122470_orphanet_199 Cornelia de Lange syndrome 1 MONDO:MONDO:0007387,MedGen:C4551851,OMIM:122470,Orphanet:199 487 487 1.0000 condition_architecture_interpretable 20 0 57 Cornelia_de_Lange_syndrome_1 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DNAH11 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 483 483 1.0000 condition_architecture_interpretable 20 0 101 Primary_ciliary_dyskinesia 574 large_gene_or_donor_burden_stress_case donor_burden_stress CHEK2 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 481 481 1.0000 condition_architecture_interpretable 20 0 354 Hereditary_cancer-predisposing_syndrome 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control LZTR1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 480 480 1.0000 condition_architecture_interpretable 20 0 480 Hereditary_cancer-predisposing_syndrome 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LZTR1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 480 480 1.0000 condition_architecture_interpretable 20 0 480 Cardiovascular_phenotype 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMS2 mondo_mondo_0013699_medgen_c1838333_omim_614337_orphanet_144 Lynch syndrome 4 MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144 477 477 1.0000 condition_architecture_interpretable 20 0 379 Lynch_syndrome_4 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SPAST mondo_mondo_0008438_medgen_c1866855_omim_182601_orphanet_100985 Hereditary spastic paraplegia 4 MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601,Orphanet:100985 476 476 1.0000 condition_architecture_interpretable 20 0 149 Hereditary_spastic_paraplegia_4 615 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMS2 mesh_d003123_medgen_c0009405 Hereditary nonpolyposis colorectal neoplasms MeSH:D003123,MedGen:C0009405 468 468 1.0000 condition_architecture_interpretable 20 0 365 Hereditary_nonpolyposis_colorectal_neoplasms 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FLNC condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 468 468 1.0000 condition_record_support_limited 20 468 442 not_provided|not_specified 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTB condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 465 465 1.0000 condition_record_support_limited 20 465 50 See_cases|not_provided|not_specified 557 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture POLE condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 465 465 1.0000 condition_record_support_limited 20 465 15 not_provided 487 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MSH6 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 462 462 1.0000 condition_record_support_limited 20 462 413 not_provided|not_specified 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD50 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 461 461 1.0000 condition_architecture_interpretable 20 0 106 Hereditary_cancer-predisposing_syndrome 483 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP290 mondo_mondo_0014442_medgen_c2673874_omim_615991_orphanet_110 Bardet-Biedl syndrome 14 MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110 461 461 1.0000 condition_architecture_interpretable 20 0 356 Bardet-Biedl_syndrome_14 949 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 456 456 1.0000 condition_architecture_interpretable 20 0 378 Retinal_dystrophy 1464 large_gene_or_donor_burden_stress_case donor_burden_stress FLNC mondo_mondo_0012289_medgen_c1836050_omim_609524_orphanet_171445 Myofibrillar myopathy 5 MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445 455 455 1.0000 condition_architecture_interpretable 20 0 453 Myofibrillar_myopathy_5 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC mondo_mondo_0013550_medgen_c3279722_omim_614065_orphanet_63273 Distal myopathy with posterior leg and anterior hand involvement MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273 455 455 1.0000 condition_architecture_interpretable 20 0 453 Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CRB1 mondo_mondo_0013453_medgen_c3151202_omim_613835_orphanet_65 Leber congenital amaurosis 8 MONDO:MONDO:0013453,MedGen:C3151202,OMIM:613835,Orphanet:65 454 454 1.0000 condition_architecture_interpretable 20 0 376 Leber_congenital_amaurosis_8 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYSF mondo_mondo_0009676_medgen_c1850889_omim_253601_orphanet_268 Autosomal recessive limb-girdle muscular dystrophy type 2B MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268 452 452 1.0000 condition_architecture_interpretable 20 0 366 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B 913 large_gene_or_donor_burden_stress_case donor_burden_stress GLDC human_phenotype_ontology_hp_0008288_mondo_mondo_0011612_medgen_c0751748_omim_ps605899_orphanet_407 Glycine encephalopathy Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407 449 449 1.0000 condition_architecture_interpretable 20 0 112 Glycine_encephalopathy 481 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACVRL1 mondo_mondo_0010880_medgen_c1838163_omim_600376_orphanet_774 Telangiectasia, hereditary hemorrhagic, type 2 MONDO:MONDO:0010880,MedGen:C1838163,OMIM:600376,Orphanet:774 444 444 1.0000 condition_architecture_interpretable 20 0 174 Telangiectasia,_hereditary_hemorrhagic,_type_2 546 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCD1 mondo_mondo_0018544_medgen_c0162309_omim_300100_orphanet_43 Adrenoleukodystrophy MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100,Orphanet:43 444 444 1.0000 condition_architecture_interpretable 20 0 117 Adrenoleukodystrophy 512 compact_adjacent_exon_block_opportunity local_compact_architecture PAH condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 443 443 1.0000 condition_record_support_limited 20 443 435 See_cases|not_provided|not_specified 886 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO15A mondo_mondo_0010860_medgen_c1838263_omim_600316_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 3 MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636 440 440 1.0000 condition_architecture_interpretable 20 0 121 Autosomal_recessive_nonsyndromic_hearing_loss_3 714 large_gene_or_donor_burden_stress_case donor_burden_stress NBN mondo_mondo_0009623_medgen_c0398791_omim_251260_orphanet_647 Microcephaly, normal intelligence and immunodeficiency MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260,Orphanet:647 439 439 1.0000 condition_architecture_interpretable 20 0 225 Microcephaly,_normal_intelligence_and_immunodeficiency 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control COL4A4 mondo_mondo_0008762_medgen_c4746745_omim_203780_orphanet_63_orphanet_88919 Autosomal recessive Alport syndrome MONDO:MONDO:0008762,MedGen:C4746745,OMIM:203780,Orphanet:63,Orphanet:88919 439 439 1.0000 condition_architecture_interpretable 20 0 283 Autosomal_recessive_Alport_syndrome 860 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KCNH2 mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 433 433 1.0000 condition_architecture_interpretable 20 0 233 Long_QT_syndrome 720 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSC2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 432 432 1.0000 condition_record_support_limited 20 432 291 not_provided|not_specified 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CFTR mondo_mondo_0008887_medgen_c2749757_omim_211400_orphanet_60033 Bronchiectasis with or without elevated sweat chloride 1 MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400,Orphanet:60033 430 430 1.0000 condition_architecture_interpretable 20 0 414 Bronchiectasis_with_or_without_elevated_sweat_chloride_1 1471 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL1A2 mondo_mondo_0008146_medgen_c0023931_omim_166200_orphanet_216796_orphanet_666 Osteogenesis imperfecta type I MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200,Orphanet:216796,Orphanet:666 429 429 1.0000 condition_architecture_interpretable 20 0 410 Osteogenesis_imperfecta_type_I 722 large_gene_or_donor_burden_stress_case donor_burden_stress CAPN3 mondo_mondo_0009675_medgen_c1869123_omim_253600_orphanet_267 Autosomal recessive limb-girdle muscular dystrophy type 2A MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600,Orphanet:267 429 429 1.0000 condition_architecture_interpretable 20 0 221 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP53 gene_553989_medgen_c1835398_omim_151623_orphanet_524 Li-Fraumeni syndrome 1 Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524 428 428 1.0000 condition_architecture_interpretable 20 0 335 Li-Fraumeni_syndrome_1 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control KCNQ2 mondo_mondo_0800491_medgen_c0393706_orphanet_1934 Early-infantile DEE MONDO:MONDO:0800491,MedGen:C0393706,Orphanet:1934 428 428 1.0000 condition_architecture_interpretable 20 0 185 Early-infantile_DEE 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXT1 human_phenotype_ontology_hp_0002762_mondo_mondo_0005508_medgen_c0015306_omim_ps133700_orphanet_321 Multiple congenital exostosis Human_Phenotype_Ontology:HP:0002762,MONDO:MONDO:0005508,MedGen:C0015306,OMIM:PS133700,Orphanet:321 424 424 1.0000 condition_architecture_interpretable 20 0 87 Multiple_congenital_exostosis 516 compact_adjacent_exon_block_opportunity local_compact_architecture BRIP1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 424 424 1.0000 condition_architecture_interpretable 20 0 322 Hereditary_cancer-predisposing_syndrome 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CDH23 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 423 423 1.0000 condition_record_support_limited 20 423 172 not_provided|not_specified 725 large_gene_or_donor_burden_stress_case donor_burden_stress ANKRD11 mondo_mondo_0007846_medgen_c0220687_omim_148050_orphanet_2332 KBG syndrome MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332 423 423 1.0000 condition_architecture_interpretable 20 0 115 KBG_syndrome 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RIF1 mondo_mondo_0009725_medgen_c1850569_omim_256030 Nemaline myopathy 2 MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030 418 418 1.0000 condition_architecture_interpretable 20 0 159 Nemaline_myopathy_2 500 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WRN mondo_mondo_0010196_medgen_c0043119_omim_277700_orphanet_902 Werner syndrome MONDO:MONDO:0010196,MedGen:C0043119,OMIM:277700,Orphanet:902 413 413 1.0000 condition_architecture_interpretable 20 0 18 Werner_syndrome 421 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNPTAB mondo_mondo_0009650_medgen_c2673377_omim_252500_orphanet_576 Mucolipidosis type II MONDO:MONDO:0009650,MedGen:C2673377,OMIM:252500,Orphanet:576 409 409 1.0000 condition_architecture_interpretable 20 0 352 Mucolipidosis_type_II 436 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAH5 mondo_mondo_0012085_medgen_c1837618_omim_608644_orphanet_244 Primary ciliary dyskinesia 3 MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244 407 407 1.0000 condition_architecture_interpretable 20 0 157 Primary_ciliary_dyskinesia_3 1093 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 mondo_mondo_0009549_mesh_d000080362_medgen_c1855465_omim_248200_orphanet_364055_orphanet_827 Severe early-childhood-onset retinal dystrophy MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827 406 406 1.0000 condition_architecture_interpretable 20 0 344 Severe_early-childhood-onset_retinal_dystrophy 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ENG mondo_mondo_0019180_medgen_c0039445_omim_ps187300_orphanet_774 Hereditary hemorrhagic telangiectasia MONDO:MONDO:0019180,MedGen:C0039445,OMIM:PS187300,Orphanet:774 405 405 1.0000 condition_architecture_interpretable 20 0 222 Hereditary_hemorrhagic_telangiectasia 607 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYSF mondo_mondo_0024545_medgen_c4551973_omim_254130_orphanet_45448 Miyoshi muscular dystrophy 1 MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448 404 404 1.0000 condition_architecture_interpretable 20 0 350 Miyoshi_muscular_dystrophy_1 913 large_gene_or_donor_burden_stress_case donor_burden_stress GCK condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 401 401 1.0000 condition_record_support_limited 20 401 289 See_cases|not_provided|not_specified 655 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL1A1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 399 399 1.0000 condition_record_support_limited 20 399 213 See_cases|not_provided|not_specified 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A2 mondo_mondo_0019567_medgen_c0268335_omim_130000 Ehlers-Danlos syndrome, classic type, 1 MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000 398 398 1.0000 condition_architecture_interpretable 20 0 398 Ehlers-Danlos_syndrome,_classic_type,_1 722 large_gene_or_donor_burden_stress_case donor_burden_stress SACS human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 397 397 1.0000 condition_architecture_interpretable 20 0 199 Spastic_paraplegia 990 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 396 396 1.0000 condition_record_support_limited 20 396 154 not_provided|not_specified 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A mondo_mondo_0013388_medgen_c3150987_omim_613721_orphanet_1934 Developmental and epileptic encephalopathy, 11 MONDO:MONDO:0013388,MedGen:C3150987,OMIM:613721,Orphanet:1934 396 396 1.0000 condition_architecture_interpretable 20 0 324 Developmental_and_epileptic_encephalopathy,_11 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SLC26A4 mondo_mondo_0010933_medgen_c3538946_omim_600791_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 4 MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636 389 389 1.0000 condition_architecture_interpretable 20 0 232 Autosomal_recessive_nonsyndromic_hearing_loss_4 631 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NSD1 mondo_mondo_0019349_medgen_c0175695_omim_117550_orphanet_821 Sotos syndrome MONDO:MONDO:0019349,MedGen:C0175695,OMIM:117550,Orphanet:821 389 389 1.0000 condition_architecture_interpretable 20 0 115 Sotos_syndrome 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL4A3 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 387 387 1.0000 condition_record_support_limited 20 387 213 See_cases|not_provided|not_specified 855 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC2H1 mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 Jeune thoracic dystrophy MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 385 385 1.0000 condition_architecture_interpretable 20 0 129 Jeune_thoracic_dystrophy 566 large_gene_or_donor_burden_stress_case donor_burden_stress ALPL mondo_mondo_0018570_mesh_d007014_medgen_c0020630_orphanet_436 Hypophosphatasia MONDO:MONDO:0018570,MeSH:D007014,MedGen:C0020630,Orphanet:436 381 381 1.0000 condition_architecture_interpretable 20 0 235 Hypophosphatasia 532 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGR human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 380 380 1.0000 condition_architecture_interpretable 20 0 198 Primary_ciliary_dyskinesia 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA1 mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 379 379 1.0000 condition_architecture_interpretable 20 0 365 Familial_cancer_of_breast 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control COL4A4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 378 378 1.0000 condition_record_support_limited 20 378 180 not_provided 860 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CDKL5 mondo_mondo_0010396_medgen_c4750718_omim_300672_orphanet_1934_orphanet_3451_orphanet_505652 Developmental and epileptic encephalopathy, 2 MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:1934,Orphanet:3451,Orphanet:505652 378 378 1.0000 condition_architecture_interpretable 20 0 290 Developmental_and_epileptic_encephalopathy,_2 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHS1 mondo_mondo_0009732_medgen_c0403399_omim_256300_orphanet_839 Finnish congenital nephrotic syndrome MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839 377 377 1.0000 condition_architecture_interpretable 20 0 152 Finnish_congenital_nephrotic_syndrome 468 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSH2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 377 377 1.0000 condition_record_support_limited 20 377 343 not_provided|not_specified 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CRB1 mondo_mondo_0010818_medgen_c1838647_omim_600105_orphanet_791 Retinitis pigmentosa 12 MONDO:MONDO:0010818,MedGen:C1838647,OMIM:600105,Orphanet:791 377 377 1.0000 condition_architecture_interpretable 20 0 365 Retinitis_pigmentosa_12 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSH3 condition_not_provided condition not provided MedGen:C3661900 374 374 1.0000 condition_record_support_limited 20 374 233 not_provided 593 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCK mondo_mondo_0015967_medgen_c3888631_orphanet_183625 Monogenic diabetes MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625 374 374 1.0000 condition_architecture_interpretable 20 0 253 Monogenic_diabetes 655 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VHL mondo_mondo_0008667_medgen_c0019562_omim_193300_orphanet_892 Von Hippel-Lindau syndrome MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892 373 373 1.0000 condition_architecture_interpretable 20 0 263 Von_Hippel-Lindau_syndrome 432 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FH condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 371 371 1.0000 condition_record_support_limited 20 371 204 not_provided 482 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MYBPC3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 370 370 1.0000 condition_record_support_limited 20 370 302 not_provided|not_specified 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMPD1 mondo_mondo_0009756_medgen_c0268242_omim_257200_orphanet_77292 Niemann-Pick disease, type A MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292 367 367 1.0000 condition_architecture_interpretable 20 0 286 Niemann-Pick_disease,_type_A 386 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LDLR condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 365 365 1.0000 condition_record_support_limited 20 365 343 See_cases|not_provided|not_specified 1933 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL7A1 mondo_mondo_0006543_medgen_c0079294_orphanet_303 Epidermolysis bullosa dystrophica MONDO:MONDO:0006543,MedGen:C0079294,Orphanet:303 365 365 1.0000 condition_architecture_interpretable 20 0 235 Epidermolysis_bullosa_dystrophica 1079 large_gene_or_donor_burden_stress_case donor_burden_stress PDHA1 mondo_mondo_0010717_medgen_c1839413_omim_312170_orphanet_79243 Pyruvate dehydrogenase E1-alpha deficiency MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243 364 364 1.0000 condition_architecture_interpretable 20 0 54 Pyruvate_dehydrogenase_E1-alpha_deficiency 395 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NSD1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 364 364 1.0000 condition_record_support_limited 20 364 100 See_cases|not_provided 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RECQL4 mondo_mondo_0009039_medgen_c0265308_omim_218600_orphanet_1225 Baller-Gerold syndrome MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225 363 363 1.0000 condition_architecture_interpretable 20 0 61 Baller-Gerold_syndrome 385 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 362 362 1.0000 condition_architecture_interpretable 20 0 249 Long_QT_syndrome 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACADM mondo_mondo_0008721_medgen_c0220710_omim_201450_orphanet_42 Medium-chain acyl-coenzyme A dehydrogenase deficiency MONDO:MONDO:0008721,MedGen:C0220710,OMIM:201450,Orphanet:42 362 362 1.0000 condition_architecture_interpretable 20 0 61 Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency 370 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPS1 mondo_mondo_0009376_medgen_c4082171_omim_237300_orphanet_147 Congenital hyperammonemia, type I MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147 361 361 1.0000 condition_architecture_interpretable 20 0 103 Congenital_hyperammonemia,_type_I 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MLH1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 359 359 1.0000 condition_record_support_limited 20 359 338 not_provided|not_specified 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PALB2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 358 358 1.0000 condition_record_support_limited 20 358 328 not_provided|not_specified 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MYO7A mondo_mondo_0010168_medgen_c1568247_omim_276900_orphanet_231169_orphanet_886 Usher syndrome type 1 MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886 356 356 1.0000 condition_architecture_interpretable 20 0 250 Usher_syndrome_type_1 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO15A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 356 356 1.0000 condition_record_support_limited 20 356 131 not_provided|not_specified 714 large_gene_or_donor_burden_stress_case donor_burden_stress LMNA mondo_mondo_0018993_medgen_c0270914_orphanet_64746 Charcot-Marie-Tooth disease type 2 MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746 354 354 1.0000 condition_architecture_interpretable 20 0 179 Charcot-Marie-Tooth_disease_type_2 536 compact_adjacent_exon_block_opportunity local_compact_architecture GNPTAB mondo_mondo_0018931_medgen_c0033788_omim_252600_orphanet_423461_orphanet_577 Pseudo-Hurler polydystrophy MONDO:MONDO:0018931,MedGen:C0033788,OMIM:252600,Orphanet:423461,Orphanet:577 354 354 1.0000 condition_architecture_interpretable 20 0 347 Pseudo-Hurler_polydystrophy 436 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAN2B1 mondo_mondo_0009561_medgen_c0024748_omim_248500_orphanet_61 Deficiency of alpha-mannosidase MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500,Orphanet:61 352 352 1.0000 condition_architecture_interpretable 20 0 30 Deficiency_of_alpha-mannosidase 358 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 351 351 1.0000 condition_record_support_limited 20 351 170 not_provided|not_specified 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USH2A human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 349 349 1.0000 condition_architecture_interpretable 20 0 277 Retinal_dystrophy 2100 large_gene_or_donor_burden_stress_case donor_burden_stress GALC mondo_mondo_0009499_medgen_c0023521_omim_245200_orphanet_487 Galactosylceramide beta-galactosidase deficiency MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200,Orphanet:487 348 348 1.0000 condition_architecture_interpretable 20 0 78 Galactosylceramide_beta-galactosidase_deficiency 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VPS13A condition_not_provided condition not provided MedGen:C3661900 346 346 1.0000 condition_record_support_limited 20 346 96 not_provided 494 large_gene_or_donor_burden_stress_case donor_burden_stress ARSA mondo_mondo_0018868_medgen_c0023522_omim_250100_orphanet_512 Metachromatic leukodystrophy MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,Orphanet:512 346 346 1.0000 condition_architecture_interpretable 20 0 99 Metachromatic_leukodystrophy 357 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 mondo_mondo_0024507_medgen_c0344542_omim_106210_orphanet_250923 Aniridia 1 MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210,Orphanet:250923 345 345 1.0000 condition_architecture_interpretable 20 0 196 Aniridia_1 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCDH19 mondo_mondo_0010246_medgen_c1848137_omim_300088_orphanet_101039_orphanet_2076 Developmental and epileptic encephalopathy, 9 MONDO:MONDO:0010246,MedGen:C1848137,OMIM:300088,Orphanet:101039,Orphanet:2076 344 344 1.0000 condition_architecture_interpretable 20 0 75 Developmental_and_epileptic_encephalopathy,_9 433 compact_adjacent_exon_block_opportunity local_compact_architecture MYBPC3 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 341 341 1.0000 condition_architecture_interpretable 20 0 266 Cardiovascular_phenotype 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 338 338 1.0000 condition_record_support_limited 20 338 226 not_provided|not_specified 631 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A3 mondo_mondo_0007086_medgen_c5882663_omim_104200_orphanet_63_orphanet_88918 Autosomal dominant Alport syndrome MONDO:MONDO:0007086,MedGen:C5882663,OMIM:104200,Orphanet:63,Orphanet:88918 336 336 1.0000 condition_architecture_interpretable 20 0 253 Autosomal_dominant_Alport_syndrome 855 large_gene_or_donor_burden_stress_case donor_burden_stress PTEN condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 335 335 1.0000 condition_record_support_limited 20 335 277 See_cases|not_provided|not_specified 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control IDUA mondo_mondo_0001586_medgen_c0023786_orphanet_579 Mucopolysaccharidosis type 1 MONDO:MONDO:0001586,MedGen:C0023786,Orphanet:579 334 334 1.0000 condition_architecture_interpretable 20 0 162 Mucopolysaccharidosis_type_1 419 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSH6 mondo_mondo_0005835_medgen_c4552100_orphanet_144 Lynch syndrome MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144 330 330 1.0000 condition_architecture_interpretable 20 0 277 Lynch_syndrome 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control HEXA mondo_mondo_0010100_medgen_c0039373_omim_272800_orphanet_845 Tay-Sachs disease MONDO:MONDO:0010100,MedGen:C0039373,OMIM:272800,Orphanet:845 328 328 1.0000 condition_architecture_interpretable 20 0 55 Tay-Sachs_disease 331 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALPL condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 328 328 1.0000 condition_record_support_limited 20 328 241 See_cases|not_provided|not_specified 532 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL7A1 mondo_mondo_0009179_medgen_c0079474_omim_226600_orphanet_79408_orphanet_79409 Recessive dystrophic epidermolysis bullosa MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600,Orphanet:79408,Orphanet:79409 327 327 1.0000 condition_architecture_interpretable 20 0 256 Recessive_dystrophic_epidermolysis_bullosa 1079 large_gene_or_donor_burden_stress_case donor_burden_stress ELP1 mondo_mondo_0009131_medgen_c0013364_omim_223900_orphanet_1764 Familial dysautonomia MONDO:MONDO:0009131,MedGen:C0013364,OMIM:223900,Orphanet:1764 326 326 1.0000 condition_architecture_interpretable 20 0 147 Familial_dysautonomia 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANK1 mondo_mondo_0008447_medgen_c2674218_omim_182900_orphanet_822 Hereditary spherocytosis type 1 MONDO:MONDO:0008447,MedGen:C2674218,OMIM:182900,Orphanet:822 325 325 1.0000 condition_architecture_interpretable 20 0 73 Hereditary_spherocytosis_type_1 497 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A mondo_mondo_0011904_medgen_c1843140_omim_607745_orphanet_140927_orphanet_306 Seizures, benign familial infantile, 3 MONDO:MONDO:0011904,MedGen:C1843140,OMIM:607745,Orphanet:140927,Orphanet:306 324 324 1.0000 condition_architecture_interpretable 20 0 303 Seizures,_benign_familial_infantile,_3 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EVC2 mondo_mondo_0009162_medgen_c0013903_omim_225500_orphanet_289 Ellis-van Creveld syndrome MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289 324 324 1.0000 condition_architecture_interpretable 20 0 257 Ellis-van_Creveld_syndrome 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A3 mondo_mondo_0009904_medgen_c0268450_omim_263800_orphanet_358 Familial hypokalemia-hypomagnesemia MONDO:MONDO:0009904,MedGen:C0268450,OMIM:263800,Orphanet:358 322 322 1.0000 condition_architecture_interpretable 20 0 176 Familial_hypokalemia-hypomagnesemia 453 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG mondo_mondo_0008758_medgen_c0205710_omim_203700_orphanet_726 Progressive sclerosing poliodystrophy MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726 322 322 1.0000 condition_architecture_interpretable 20 0 141 Progressive_sclerosing_poliodystrophy 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCDH mondo_mondo_0009281_medgen_c0268595_omim_231670_orphanet_25 Glutaric aciduria, type 1 MONDO:MONDO:0009281,MedGen:C0268595,OMIM:231670,Orphanet:25 322 322 1.0000 condition_architecture_interpretable 20 0 64 Glutaric_aciduria,_type_1 324 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 mondo_mondo_0012960_medgen_c2675473_omim_612621_orphanet_544254 Intellectual disability, autosomal dominant 5 MONDO:MONDO:0012960,MedGen:C2675473,OMIM:612621,Orphanet:544254 320 320 1.0000 condition_architecture_interpretable 20 0 67 Intellectual_disability,_autosomal_dominant_5 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFTR condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 319 319 1.0000 condition_record_support_limited 20 319 300 not_provided|not_specified 1471 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNA1A mondo_mondo_0007163_medgen_c1720416_omim_108500_orphanet_97 Episodic ataxia type 2 MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500,Orphanet:97 319 319 1.0000 condition_architecture_interpretable 20 0 275 Episodic_ataxia_type_2 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BMPR2 mondo_mondo_0024533_medgen_c4552070_omim_178600_orphanet_422 Pulmonary hypertension, primary, 1 MONDO:MONDO:0024533,MedGen:C4552070,OMIM:178600,Orphanet:422 319 319 1.0000 condition_architecture_interpretable 20 0 128 Pulmonary_hypertension,_primary,_1 502 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A4 mondo_mondo_0010134_medgen_c0271829_omim_274600_orphanet_705 Pendred syndrome MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705 318 318 1.0000 condition_architecture_interpretable 20 0 250 Pendred_syndrome 631 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD2 mondo_mondo_0013131_medgen_c2751306_omim_613095 Polycystic kidney disease 2 MONDO:MONDO:0013131,MedGen:C2751306,OMIM:613095 316 316 1.0000 condition_architecture_interpretable 20 0 105 Polycystic_kidney_disease_2 428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLCN mondo_mondo_0800444_medgen_c0346010_omim_ps135150_orphanet_122 Birt-Hogg-Dube syndrome MONDO:MONDO:0800444,MedGen:C0346010,OMIM:PS135150,Orphanet:122 316 316 1.0000 condition_architecture_interpretable 20 0 167 Birt-Hogg-Dube_syndrome 425 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control OTC condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 314 314 1.0000 condition_record_support_limited 20 314 122 See_cases|not_provided|not_specified 438 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JAG1 mondo_mondo_0016862_medgen_c1956125_omim_118450_orphanet_261619_orphanet_52 Alagille syndrome due to a JAG1 point mutation MONDO:MONDO:0016862,MedGen:C1956125,OMIM:118450,Orphanet:261619,Orphanet:52 314 314 1.0000 condition_architecture_interpretable 20 0 68 Alagille_syndrome_due_to_a_JAG1_point_mutation 461 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BARD1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 314 314 1.0000 condition_architecture_interpretable 20 0 231 Hereditary_cancer-predisposing_syndrome 610 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MUTYH mondo_mondo_0012041_medgen_c3272841_omim_608456_orphanet_220460_orphanet_247798 Familial adenomatous polyposis 2 MONDO:MONDO:0012041,MedGen:C3272841,OMIM:608456,Orphanet:220460,Orphanet:247798 311 311 1.0000 condition_architecture_interpretable 20 0 169 Familial_adenomatous_polyposis_2 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control EVC mondo_mondo_0009162_medgen_c0013903_omim_225500_orphanet_289 Ellis-van Creveld syndrome MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289 311 311 1.0000 condition_architecture_interpretable 20 0 211 Ellis-van_Creveld_syndrome 320 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO7A mondo_mondo_0010807_medgen_c1838701_omim_600060_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 2 MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060,Orphanet:90636 309 309 1.0000 condition_architecture_interpretable 20 0 238 Autosomal_recessive_nonsyndromic_hearing_loss_2 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2D mondo_mondo_0016512_medgen_c0796004_omim_ps147920_orphanet_2322 Kabuki syndrome MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322 309 309 1.0000 condition_architecture_interpretable 20 0 98 Kabuki_syndrome 1026 large_gene_or_donor_burden_stress_case donor_burden_stress CACNA1A mondo_mondo_0014917_medgen_c4310716_omim_617106 Developmental and epileptic encephalopathy, 42 MONDO:MONDO:0014917,MedGen:C4310716,OMIM:617106 307 307 1.0000 condition_architecture_interpretable 20 0 264 Developmental_and_epileptic_encephalopathy,_42 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LAMA2 mondo_mondo_0029136_medgen_c4748327_omim_618138_orphanet_565837 Muscular dystrophy, limb-girdle, autosomal recessive 23 MONDO:MONDO:0029136,MedGen:C4748327,OMIM:618138,Orphanet:565837 306 306 1.0000 condition_architecture_interpretable 20 0 285 Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23 953 large_gene_or_donor_burden_stress_case donor_burden_stress SLC12A3 condition_not_provided condition not provided MedGen:C3661900 305 305 1.0000 condition_record_support_limited 20 305 177 not_provided 453 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LOXHD1 condition_not_provided condition not provided MedGen:C3661900 305 305 1.0000 condition_record_support_limited 20 305 109 not_provided 443 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MSH3 mondo_mondo_0044300_medgen_c4310719_omim_617100_orphanet_480536 Familial adenomatous polyposis 4 MONDO:MONDO:0044300,MedGen:C4310719,OMIM:617100,Orphanet:480536 302 302 1.0000 condition_architecture_interpretable 20 0 208 Familial_adenomatous_polyposis_4 593 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA1 mondo_mondo_0018150_medgen_c0017205_orphanet_355 Gaucher disease MONDO:MONDO:0018150,MedGen:C0017205,Orphanet:355 302 302 1.0000 condition_architecture_interpretable 20 0 97 Gaucher_disease 360 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 mondo_mondo_0009715_medgen_c0751360_omim_255700_orphanet_614 Congenital myotonia, autosomal recessive form MONDO:MONDO:0009715,MedGen:C0751360,OMIM:255700,Orphanet:614 301 301 1.0000 condition_architecture_interpretable 20 0 280 Congenital_myotonia,_autosomal_recessive_form 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHEX mondo_mondo_0010619_medgen_c0733682_omim_307800_orphanet_89936 Familial X-linked hypophosphatemic vitamin D refractory rickets MONDO:MONDO:0010619,MedGen:C0733682,OMIM:307800,Orphanet:89936 299 299 1.0000 condition_architecture_interpretable 20 0 147 Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets 842 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A3 mondo_mondo_0018965_medgen_c1567741_omim_ps301050_orphanet_63 Alport syndrome MONDO:MONDO:0018965,MedGen:C1567741,OMIM:PS301050,Orphanet:63 297 297 1.0000 condition_architecture_interpretable 20 0 184 Alport_syndrome 855 large_gene_or_donor_burden_stress_case donor_burden_stress BAP1 mondo_mondo_0013692_medgen_c3280492_omim_614327_orphanet_289539 BAP1-related tumor predisposition syndrome MONDO:MONDO:0013692,MedGen:C3280492,OMIM:614327,Orphanet:289539 296 296 1.0000 condition_architecture_interpretable 20 0 115 BAP1-related_tumor_predisposition_syndrome 413 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PEX1 mondo_mondo_0019609_medgen_c0043459_orphanet_912 Zellweger spectrum disorders MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912 295 295 1.0000 condition_architecture_interpretable 20 0 155 Zellweger_spectrum_disorders 469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCCA human_phenotype_ontology_hp_0003571_mondo_mondo_0011628_medgen_c0268579_omim_606054_orphanet_35 Propionic acidemia Human_Phenotype_Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35 292 292 1.0000 condition_architecture_interpretable 20 0 24 Propionic_acidemia 298 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZEB2 mondo_mondo_0009341_medgen_c1856113_omim_235730_orphanet_2152 Mowat-Wilson syndrome MONDO:MONDO:0009341,MedGen:C1856113,OMIM:235730,Orphanet:2152 291 291 1.0000 condition_architecture_interpretable 20 0 42 Mowat-Wilson_syndrome 389 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALNS mondo_mondo_0009659_medgen_c0086651_omim_253000_orphanet_309297_orphanet_582 Mucopolysaccharidosis, MPS-IV-A MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000,Orphanet:309297,Orphanet:582 291 291 1.0000 condition_architecture_interpretable 20 0 55 Mucopolysaccharidosis,_MPS-IV-A 299 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHCR7 mondo_mondo_0010035_medgen_c0175694_omim_270400_orphanet_818 Smith-Lemli-Opitz syndrome MONDO:MONDO:0010035,MedGen:C0175694,OMIM:270400,Orphanet:818 291 291 1.0000 condition_architecture_interpretable 20 0 59 Smith-Lemli-Opitz_syndrome 300 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGXT mondo_mondo_0009823_medgen_c0268164_omim_259900_orphanet_416_orphanet_93598 Primary hyperoxaluria, type I MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598 290 290 1.0000 condition_architecture_interpretable 20 0 109 Primary_hyperoxaluria,_type_I 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1L mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 289 289 1.0000 condition_architecture_interpretable 20 0 252 Joubert_syndrome 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYGM mondo_mondo_0009293_medgen_c0017924_omim_232600_orphanet_368 Glycogen storage disease, type V MONDO:MONDO:0009293,MedGen:C0017924,OMIM:232600,Orphanet:368 289 289 1.0000 condition_architecture_interpretable 20 0 39 Glycogen_storage_disease,_type_V 294 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CREBBP mondo_mondo_0008393_medgen_c4551859_omim_180849_orphanet_353277_orphanet_783 Rubinstein-Taybi syndrome due to CREBBP mutations MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783 289 289 1.0000 condition_architecture_interpretable 20 0 64 Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CLCN1 mondo_mondo_0008055_medgen_c2936781_omim_160800_orphanet_614 Congenital myotonia, autosomal dominant form MONDO:MONDO:0008055,MedGen:C2936781,OMIM:160800,Orphanet:614 288 288 1.0000 condition_architecture_interpretable 20 0 278 Congenital_myotonia,_autosomal_dominant_form 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DICER1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 286 286 1.0000 condition_architecture_interpretable 20 0 172 Hereditary_cancer-predisposing_syndrome 833 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ARID1B mondo_mondo_0007617_medgen_c3281201_omim_135900_orphanet_1465 Coffin-Siris syndrome 1 MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900,Orphanet:1465 286 286 1.0000 condition_architecture_interpretable 20 0 97 Coffin-Siris_syndrome_1 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MEN1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 285 285 1.0000 condition_architecture_interpretable 20 0 186 Hereditary_cancer-predisposing_syndrome 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control KCNH2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 285 285 1.0000 condition_record_support_limited 20 285 184 not_provided|not_specified 720 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HBB mondo_mondo_0019402_medgen_c0005283_orphanet_848 beta Thalassemia MONDO:MONDO:0019402,MedGen:C0005283,Orphanet:848 285 285 1.0000 condition_architecture_interpretable 20 0 169 beta_Thalassemia 428 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH15 condition_not_provided condition not provided MedGen:C3661900 284 284 1.0000 condition_record_support_limited 20 284 131 not_provided 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH7 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 283 283 1.0000 condition_architecture_interpretable 20 0 194 Hypertrophic_cardiomyopathy 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MMUT condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 283 283 1.0000 condition_record_support_limited 20 283 167 not_provided|not_specified 408 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KMT2D condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 283 283 1.0000 condition_record_support_limited 20 283 112 See_cases|not_provided 1026 large_gene_or_donor_burden_stress_case donor_burden_stress DMD mondo_mondo_0010311_medgen_c0917713_omim_300376_orphanet_98895 Becker muscular dystrophy MONDO:MONDO:0010311,MedGen:C0917713,OMIM:300376,Orphanet:98895 281 281 1.0000 condition_architecture_interpretable 20 0 196 Becker_muscular_dystrophy 2119 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 280 280 1.0000 condition_record_support_limited 20 280 194 not_provided|not_specified 770 large_gene_or_donor_burden_stress_case donor_burden_stress MSH3 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 280 280 1.0000 condition_architecture_interpretable 20 0 193 Hereditary_cancer-predisposing_syndrome 593 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 279 279 1.0000 condition_record_support_limited 20 279 149 See_cases|not_provided|not_specified 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMPD1 mondo_mondo_0011871_medgen_c0268243_omim_607616_orphanet_77293 Niemann-Pick disease, type B MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293 278 278 1.0000 condition_architecture_interpretable 20 0 275 Niemann-Pick_disease,_type_B 386 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAGLU mondo_mondo_0009656_medgen_c0086648_omim_252920_orphanet_79270 Mucopolysaccharidosis, MPS-III-B MONDO:MONDO:0009656,MedGen:C0086648,OMIM:252920,Orphanet:79270 278 278 1.0000 condition_architecture_interpretable 20 0 227 Mucopolysaccharidosis,_MPS-III-B 295 compact_adjacent_exon_block_opportunity local_compact_architecture MSH6 human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Endometrial carcinoma Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 278 278 1.0000 condition_architecture_interpretable 20 0 261 Endometrial_carcinoma 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ETFDH mondo_mondo_0009282_medgen_c0268596_omim_231680_orphanet_26791 Multiple acyl-CoA dehydrogenase deficiency MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680,Orphanet:26791 278 278 1.0000 condition_architecture_interpretable 20 0 92 Multiple_acyl-CoA_dehydrogenase_deficiency 301 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 mondo_mondo_0007268_medgen_c1861862_omim_115197 Hypertrophic cardiomyopathy 4 MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197 277 277 1.0000 condition_architecture_interpretable 20 0 197 Hypertrophic_cardiomyopathy_4 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYSF condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 277 277 1.0000 condition_record_support_limited 20 277 224 not_provided 913 large_gene_or_donor_burden_stress_case donor_burden_stress CHD2 mondo_mondo_0014150_medgen_c3809278_omim_615369_orphanet_1942_orphanet_2382 Developmental and epileptic encephalopathy 94 MONDO:MONDO:0014150,MedGen:C3809278,OMIM:615369,Orphanet:1942,Orphanet:2382 275 275 1.0000 condition_architecture_interpretable 20 0 40 Developmental_and_epileptic_encephalopathy_94 368 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture STK11 mondo_mondo_0008280_mesh_d010580_medgen_c0031269_omim_175200_orphanet_2869 Peutz-Jeghers syndrome MONDO:MONDO:0008280,MeSH:D010580,MedGen:C0031269,OMIM:175200,Orphanet:2869 274 274 1.0000 condition_architecture_interpretable 20 0 97 Peutz-Jeghers_syndrome 395 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SLC22A5 mondo_mondo_0008919_medgen_c0342788_omim_212140_orphanet_158 Renal carnitine transport defect MONDO:MONDO:0008919,MedGen:C0342788,OMIM:212140,Orphanet:158 274 274 1.0000 condition_architecture_interpretable 20 0 83 Renal_carnitine_transport_defect 285 compact_adjacent_exon_block_opportunity local_compact_architecture CEP290 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 274 274 1.0000 condition_architecture_interpretable 20 0 217 Leber_congenital_amaurosis 949 large_gene_or_donor_burden_stress_case donor_burden_stress KRIT1 human_phenotype_ontology_hp_0033522_mondo_mondo_0000820_medgen_c2919945_omim_116860_orphanet_221061 Cerebral cavernous malformation Human_Phenotype_Ontology:HP:0033522,MONDO:MONDO:0000820,MedGen:C2919945,OMIM:116860,Orphanet:221061 273 273 1.0000 condition_architecture_interpretable 20 0 93 Cerebral_cavernous_malformation 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLB1 mondo_mondo_0009660_medgen_c0086652_omim_253010_orphanet_309310_orphanet_582 Mucopolysaccharidosis, MPS-IV-B MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010,Orphanet:309310,Orphanet:582 272 272 1.0000 condition_architecture_interpretable 20 0 252 Mucopolysaccharidosis,_MPS-IV-B 322 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL5A1 mondo_mondo_0019567_medgen_c0268335_omim_130000 Ehlers-Danlos syndrome, classic type, 1 MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000 272 272 1.0000 condition_architecture_interpretable 20 0 44 Ehlers-Danlos_syndrome,_classic_type,_1 361 large_gene_or_donor_burden_stress_case donor_burden_stress GALT mondo_mondo_0009258_medgen_c0268151_omim_230400_orphanet_352_orphanet_79239 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239 271 271 1.0000 condition_architecture_interpretable 20 0 143 Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase 333 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AR mondo_mondo_0019154_medgen_c0039585_omim_300068_orphanet_754_orphanet_99429 Androgen resistance syndrome MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429 270 270 1.0000 condition_architecture_interpretable 20 0 173 Androgen_resistance_syndrome 365 compact_adjacent_exon_block_opportunity local_compact_architecture HGD mondo_mondo_0008753_medgen_c0002066_omim_203500_orphanet_56 Alkaptonuria MONDO:MONDO:0008753,MedGen:C0002066,OMIM:203500,Orphanet:56 269 269 1.0000 condition_architecture_interpretable 20 0 13 Alkaptonuria 270 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARID1B condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 269 269 1.0000 condition_record_support_limited 20 269 87 See_cases|not_provided 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BEST1 condition_not_provided condition not provided .|MedGen:C3661900 268 268 1.0000 condition_record_support_limited 20 268 140 See_cases|not_provided 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAA condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 264 264 1.0000 condition_record_support_limited 20 264 245 See_cases|not_provided|not_specified 739 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC2H1 mondo_mondo_0013127_medgen_c0036069_omim_613091_orphanet_474_orphanet_93269_orphanet_93270_orphanet_93271 Asphyxiating thoracic dystrophy 3 MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271 264 264 1.0000 condition_architecture_interpretable 20 0 118 Asphyxiating_thoracic_dystrophy_3 566 large_gene_or_donor_burden_stress_case donor_burden_stress CFTR mondo_mondo_0010178_medgen_c0403814_omim_277180_orphanet_48 Congenital bilateral aplasia of vas deferens from CFTR mutation MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180,Orphanet:48 263 263 1.0000 condition_architecture_interpretable 20 0 263 Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation 1471 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 263 263 1.0000 condition_architecture_interpretable 20 0 203 Hereditary_cancer-predisposing_syndrome 622 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control EVC2 mondo_mondo_0008673_medgen_c0457013_omim_193530_orphanet_952 Curry-Hall syndrome MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952 261 261 1.0000 condition_architecture_interpretable 20 0 256 Curry-Hall_syndrome 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCCB human_phenotype_ontology_hp_0003571_mondo_mondo_0011628_medgen_c0268579_omim_606054_orphanet_35 Propionic acidemia Human_Phenotype_Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35 260 260 1.0000 condition_architecture_interpretable 20 0 26 Propionic_acidemia 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LYST mondo_mondo_0008963_medgen_c0007965_omim_214500_orphanet_167 Chédiak-Higashi syndrome MONDO:MONDO:0008963,MedGen:C0007965,OMIM:214500,Orphanet:167 260 260 1.0000 condition_architecture_interpretable 20 0 21 Chédiak-Higashi_syndrome 272 large_gene_or_donor_burden_stress_case donor_burden_stress CHD7 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 260 260 1.0000 condition_record_support_limited 20 260 102 See_cases|not_provided|not_specified 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture VWF condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 259 259 1.0000 condition_record_support_limited 20 259 174 not_provided|not_specified 454 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2A mondo_mondo_0011518_medgen_c1854630_omim_605130_orphanet_319182 Wiedemann-Steiner syndrome MONDO:MONDO:0011518,MedGen:C1854630,OMIM:605130,Orphanet:319182 258 258 1.0000 condition_architecture_interpretable 20 0 54 Wiedemann-Steiner_syndrome 520 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RPE65 mondo_mondo_0008765_medgen_c1859844_omim_204100_orphanet_65 Leber congenital amaurosis 2 MONDO:MONDO:0008765,MedGen:C1859844,OMIM:204100,Orphanet:65 257 257 1.0000 condition_architecture_interpretable 20 0 228 Leber_congenital_amaurosis_2 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KMT2A condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 253 253 1.0000 condition_record_support_limited 20 253 62 See_cases|not_provided|not_specified 520 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KCNQ1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 253 253 1.0000 condition_record_support_limited 20 253 211 not_provided|not_specified 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 253 253 1.0000 condition_record_support_limited 20 253 231 not_provided|not_specified 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 252 252 1.0000 condition_record_support_limited 20 252 72 See_cases|not_provided 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP290 mondo_mondo_0012432_medgen_c1857780_omim_610188_orphanet_2318 Joubert syndrome 5 MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318 252 252 1.0000 condition_architecture_interpretable 20 0 245 Joubert_syndrome_5 949 large_gene_or_donor_burden_stress_case donor_burden_stress ARSB mondo_mondo_0009661_medgen_c0026709_omim_253200_orphanet_583 Mucopolysaccharidosis type 6 MONDO:MONDO:0009661,MedGen:C0026709,OMIM:253200,Orphanet:583 251 251 1.0000 condition_architecture_interpretable 20 0 27 Mucopolysaccharidosis_type_6 254 compact_adjacent_exon_block_opportunity local_compact_architecture SDHA mondo_mondo_0013602_medgen_c3279992_omim_614165_orphanet_29072 Pheochromocytoma/paraganglioma syndrome 5 MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072 250 250 1.0000 condition_architecture_interpretable 20 0 225 Pheochromocytoma/paraganglioma_syndrome_5 320 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MECP2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 249 249 1.0000 condition_record_support_limited 20 249 182 See_cases|not_provided|not_specified 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 249 249 1.0000 condition_record_support_limited 20 249 140 See_cases|not_provided|not_specified 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DEPDC5 mondo_mondo_0020310_medgen_c1858477_omim_ps604364_orphanet_98820 Familial focal epilepsy with variable foci MONDO:MONDO:0020310,MedGen:C1858477,OMIM:PS604364,Orphanet:98820 249 249 1.0000 condition_architecture_interpretable 20 0 66 Familial_focal_epilepsy_with_variable_foci 382 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RB1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 248 248 1.0000 condition_architecture_interpretable 20 0 146 Hereditary_cancer-predisposing_syndrome 947 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control GRIN2A mondo_mondo_0009509_medgen_c0282512_omim_245570_orphanet_1945_orphanet_725_orphanet_98818 Landau-Kleffner syndrome MONDO:MONDO:0009509,MedGen:C0282512,OMIM:245570,Orphanet:1945,Orphanet:725,Orphanet:98818 248 248 1.0000 condition_architecture_interpretable 20 0 53 Landau-Kleffner_syndrome 291 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FH mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 248 248 1.0000 condition_architecture_interpretable 20 0 182 Hereditary_cancer-predisposing_syndrome 482 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control COL4A4 mondo_mondo_0018965_medgen_c1567741_omim_ps301050_orphanet_63 Alport syndrome MONDO:MONDO:0018965,MedGen:C1567741,OMIM:PS301050,Orphanet:63 247 247 1.0000 condition_architecture_interpretable 20 0 139 Alport_syndrome 860 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKP2 mondo_mondo_0012180_medgen_c1836906_omim_609040 Arrhythmogenic right ventricular dysplasia 9 MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040 246 246 1.0000 condition_architecture_interpretable 20 0 128 Arrhythmogenic_right_ventricular_dysplasia_9 344 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NOTCH3 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 245 245 1.0000 condition_record_support_limited 20 245 91 See_cases|not_provided|not_specified 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture HNF1B mondo_mondo_0007669_medgen_c0431693_omim_137920_orphanet_93111 Renal cysts and diabetes syndrome MONDO:MONDO:0007669,MedGen:C0431693,OMIM:137920,Orphanet:93111 245 245 1.0000 condition_architecture_interpretable 20 0 82 Renal_cysts_and_diabetes_syndrome 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANKRD11 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 245 245 1.0000 condition_record_support_limited 20 245 103 See_cases|not_provided 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RPGR condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 244 244 1.0000 condition_record_support_limited 20 244 182 See_cases|not_provided 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NF1 human_phenotype_ontology_hp_0012209_mondo_mondo_0011908_medgen_c0349639_omim_607785_orphanet_86834 Juvenile myelomonocytic leukemia Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834 244 244 1.0000 condition_architecture_interpretable 20 0 220 Juvenile_myelomonocytic_leukemia 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control HSD17B4 mondo_mondo_0009855_medgen_c0342870_omim_261515_orphanet_300 Bifunctional peroxisomal enzyme deficiency MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orphanet:300 244 244 1.0000 condition_architecture_interpretable 20 0 141 Bifunctional_peroxisomal_enzyme_deficiency 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BTD mondo_mondo_0009665_medgen_c0220754_omim_253260_orphanet_79241 Biotinidase deficiency MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260,Orphanet:79241 244 244 1.0000 condition_architecture_interpretable 20 0 64 Biotinidase_deficiency 251 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1L mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 Meckel-Gruber syndrome MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 243 243 1.0000 condition_architecture_interpretable 20 0 243 Meckel-Gruber_syndrome 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EDA mondo_mondo_0010585_medgen_c0162359_omim_305100_orphanet_181_orphanet_238468 Hypohidrotic X-linked ectodermal dysplasia MONDO:MONDO:0010585,MedGen:C0162359,OMIM:305100,Orphanet:181,Orphanet:238468 243 243 1.0000 condition_architecture_interpretable 20 0 46 Hypohidrotic_X-linked_ectodermal_dysplasia 276 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RTEL1 mondo_mondo_0014076_medgen_c3554656_omim_615190 Dyskeratosis congenita, autosomal recessive 5 MONDO:MONDO:0014076,MedGen:C3554656,OMIM:615190 242 242 1.0000 condition_architecture_interpretable 20 0 190 Dyskeratosis_congenita,_autosomal_recessive_5 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTC mondo_mondo_0010703_medgen_c0268542_omim_311250_orphanet_664 Ornithine carbamoyltransferase deficiency MONDO:MONDO:0010703,MedGen:C0268542,OMIM:311250,Orphanet:664 242 242 1.0000 condition_architecture_interpretable 20 0 122 Ornithine_carbamoyltransferase_deficiency 438 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH23 mondo_mondo_0054601_medgen_c4539685_omim_617540 Pituitary adenoma 5, multiple types MONDO:MONDO:0054601,MedGen:C4539685,OMIM:617540 242 242 1.0000 condition_architecture_interpretable 20 0 171 Pituitary_adenoma_5,_multiple_types 725 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13A mondo_mondo_0008695_medgen_c0393576_omim_200150_orphanet_2388 Chorea-acanthocytosis MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388 241 241 1.0000 condition_architecture_interpretable 20 0 95 Chorea-acanthocytosis 494 large_gene_or_donor_burden_stress_case donor_burden_stress MUTYH mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 241 241 1.0000 condition_architecture_interpretable 20 0 159 Hereditary_cancer-predisposing_syndrome 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 240 240 1.0000 condition_record_support_limited 20 240 205 not_provided|not_specified 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PRPH2 prph2_related_disorder PRPH2-related disorder MedGen:CN239395 240 240 1.0000 condition_architecture_interpretable 20 0 138 PRPH2-related_disorder 361 compact_adjacent_exon_block_opportunity local_compact_architecture PCNT condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 240 240 1.0000 condition_record_support_limited 20 240 53 See_cases|not_provided 350 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture GLA condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 240 240 1.0000 condition_record_support_limited 20 240 220 not_provided|not_specified 1115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F9 mondo_mondo_0010604_mesh_d002836_medgen_c0008533_omim_306900_orphanet_98879 Hereditary factor IX deficiency disease MONDO:MONDO:0010604,MeSH:D002836,MedGen:C0008533,OMIM:306900,Orphanet:98879 239 239 1.0000 condition_architecture_interpretable 20 0 131 Hereditary_factor_IX_deficiency_disease 299 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPAST condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 237 237 1.0000 condition_record_support_limited 20 237 130 not_provided 615 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA2B mondo_mondo_0100326_medgen_c0040015_omim_ps273800_orphanet_849 Glanzmann thrombasthenia MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:849 237 237 1.0000 condition_architecture_interpretable 20 0 54 Glanzmann_thrombasthenia 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LOXHD1 mondo_mondo_0013119_medgen_c2746083_omim_613079_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 77 MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636 236 236 1.0000 condition_architecture_interpretable 20 0 108 Autosomal_recessive_nonsyndromic_hearing_loss_77 443 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture VHL mondo_mondo_0009892_medgen_c1837915_omim_263400_orphanet_238557 Chuvash polycythemia MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557 235 235 1.0000 condition_architecture_interpretable 20 0 233 Chuvash_polycythemia 432 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SYNE1 mondo_mondo_0012549_medgen_c1853116_omim_610743_orphanet_88644 Autosomal recessive ataxia, Beauce type MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644 235 235 1.0000 condition_architecture_interpretable 20 0 173 Autosomal_recessive_ataxia,_Beauce_type 379 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 mondo_mondo_0012626_medgen_c1970161_omim_611134_orphanet_564 Meckel syndrome, type 4 MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564 235 235 1.0000 condition_architecture_interpretable 20 0 229 Meckel_syndrome,_type_4 949 large_gene_or_donor_burden_stress_case donor_burden_stress ZFYVE26 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 234 234 1.0000 condition_architecture_interpretable 20 0 69 Spastic_paraplegia 454 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CC2D2A mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 Meckel-Gruber syndrome MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 234 234 1.0000 condition_architecture_interpretable 20 0 233 Meckel-Gruber_syndrome 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RMRP mondo_mondo_0011773_medgen_c1846796_omim_ps607095_orphanet_93347 Anauxetic dysplasia MONDO:MONDO:0011773,MedGen:C1846796,OMIM:PS607095,Orphanet:93347 233 233 1.0000 condition_architecture_interpretable 20 0 124 Anauxetic_dysplasia 302 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation NPHS1 condition_not_provided condition not provided MedGen:C3661900 233 233 1.0000 condition_record_support_limited 20 233 147 not_provided 468 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRPPRC mondo_mondo_0009069_medgen_c1857355_omim_220111_orphanet_70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111,Orphanet:70472 233 233 1.0000 condition_architecture_interpretable 20 0 59 Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type 332 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 233 233 1.0000 condition_architecture_interpretable 20 0 233 Joubert_syndrome 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTM1 mondo_mondo_0010683_medgen_c0410203_omim_310400_orphanet_596 Severe X-linked myotubular myopathy MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400,Orphanet:596 232 232 1.0000 condition_architecture_interpretable 20 0 43 Severe_X-linked_myotubular_myopathy 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 mondo_mondo_0010397_medgen_c1968556_omim_300673_orphanet_209370 Severe neonatal-onset encephalopathy with microcephaly MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:209370 232 232 1.0000 condition_architecture_interpretable 20 0 135 Severe_neonatal-onset_encephalopathy_with_microcephaly 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP290 mondo_mondo_0012723_medgen_c1857821_omim_611755_orphanet_65 Leber congenital amaurosis 10 MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65 232 232 1.0000 condition_architecture_interpretable 20 0 226 Leber_congenital_amaurosis_10 949 large_gene_or_donor_burden_stress_case donor_burden_stress SCN2A condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 231 231 1.0000 condition_record_support_limited 20 231 115 See_cases|not_provided|not_specified 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RP1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 231 231 1.0000 condition_record_support_limited 20 231 73 not_provided 334 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture HNF1A mondo_mondo_0015967_medgen_c3888631_orphanet_183625 Monogenic diabetes MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625 230 230 1.0000 condition_architecture_interpretable 20 0 131 Monogenic_diabetes 384 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLB1 mondo_mondo_0018149_medgen_c0085131_orphanet_354 GM1 gangliosidosis MONDO:MONDO:0018149,MedGen:C0085131,Orphanet:354 230 230 1.0000 condition_architecture_interpretable 20 0 224 GM1_gangliosidosis 322 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 230 230 1.0000 condition_record_support_limited 20 230 50 See_cases|not_provided 396 large_gene_or_donor_burden_stress_case donor_burden_stress ASL human_phenotype_ontology_hp_0025630_mondo_mondo_0008815_medgen_c0268547_omim_207900_orphanet_23 Argininosuccinate lyase deficiency Human_Phenotype_Ontology:HP:0025630,MONDO:MONDO:0008815,MedGen:C0268547,OMIM:207900,Orphanet:23 230 230 1.0000 condition_architecture_interpretable 20 0 29 Argininosuccinate_lyase_deficiency 236 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NF2 mondo_mondo_0007039_medgen_c0027832_omim_101000_orphanet_637 Neurofibromatosis, type 2 MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637 229 229 1.0000 condition_architecture_interpretable 20 0 46 Neurofibromatosis,_type_2 285 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SERPING1 mondo_mondo_0015053_medgen_c2717906_omim_106100_orphanet_100050_orphanet_100051_orphanet_91378 Hereditary angioedema type 1 MONDO:MONDO:0015053,MedGen:C2717906,OMIM:106100,Orphanet:100050,Orphanet:100051,Orphanet:91378 228 228 1.0000 condition_architecture_interpretable 20 0 35 Hereditary_angioedema_type_1 374 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMUT mondo_mondo_0009612_medgen_c1855114_omim_251000_orphanet_27 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:MONDO:0009612,MedGen:C1855114,OMIM:251000,Orphanet:27 228 228 1.0000 condition_architecture_interpretable 20 0 141 Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency 408 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL1A2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 228 228 1.0000 condition_record_support_limited 20 228 135 .|See_cases|not_provided|not_specified 722 large_gene_or_donor_burden_stress_case donor_burden_stress CHM condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 228 228 1.0000 condition_record_support_limited 20 228 60 not_provided 314 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNA1A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 228 228 1.0000 condition_record_support_limited 20 228 112 not_provided 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PMS2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 227 227 1.0000 condition_record_support_limited 20 227 212 not_provided|not_specified 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMM2 mondo_mondo_0008907_medgen_c0349653_omim_212065_orphanet_79318 PMM2-congenital disorder of glycosylation MONDO:MONDO:0008907,MedGen:C0349653,OMIM:212065,Orphanet:79318 227 227 1.0000 condition_architecture_interpretable 20 0 58 PMM2-congenital_disorder_of_glycosylation 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HADHA mondo_mondo_0012173_medgen_c3711645_omim_609016_orphanet_5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:MONDO:0012173,MedGen:C3711645,OMIM:609016,Orphanet:5 227 227 1.0000 condition_architecture_interpretable 20 0 164 Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency 238 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPLANE1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 227 227 1.0000 condition_record_support_limited 20 227 82 See_cases|not_provided|not_specified 343 large_gene_or_donor_burden_stress_case donor_burden_stress NAGLU mondo_mondo_0014665_medgen_c5569050_omim_616491_orphanet_447964 Charcot-Marie-Tooth disease axonal type 2V MONDO:MONDO:0014665,MedGen:C5569050,OMIM:616491,Orphanet:447964 226 226 1.0000 condition_architecture_interpretable 20 0 225 Charcot-Marie-Tooth_disease_axonal_type_2V 295 compact_adjacent_exon_block_opportunity local_compact_architecture G6PD mondo_mondo_0010480_medgen_c2720289_omim_300908_orphanet_466026 Anemia, nonspherocytic hemolytic, due to G6PD deficiency MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026 226 226 1.0000 condition_architecture_interpretable 20 0 77 Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC6 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 225 225 1.0000 condition_record_support_limited 20 225 80 not_provided 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANK1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 225 225 1.0000 condition_record_support_limited 20 225 70 not_provided 497 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture GCK mondo_mondo_0007453_medgen_c0342277_omim_125851_orphanet_552 Maturity-onset diabetes of the young type 2 MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552 224 224 1.0000 condition_architecture_interpretable 20 0 177 Maturity-onset_diabetes_of_the_young_type_2 655 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A4 mondo_mondo_0007709_medgen_cn376803_omim_141200 Hematuria, benign familial, 1 MONDO:MONDO:0007709,MedGen:CN376803,OMIM:141200 224 224 1.0000 condition_architecture_interpretable 20 0 214 Hematuria,_benign_familial,_1 860 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYBPC3 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 223 223 1.0000 condition_architecture_interpretable 20 0 185 Cardiomyopathy 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNE mondo_mondo_0011600_medgen_c4225413_omim_605809_orphanet_590 Congenital myasthenic syndrome 4A MONDO:MONDO:0011600,MedGen:C4225413,OMIM:605809,Orphanet:590 223 223 1.0000 condition_architecture_interpretable 20 0 108 Congenital_myasthenic_syndrome_4A 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP7A mondo_mondo_0010651_medgen_c0022716_omim_309400_orphanet_565 Menkes kinky-hair syndrome MONDO:MONDO:0010651,MedGen:C0022716,OMIM:309400,Orphanet:565 223 223 1.0000 condition_architecture_interpretable 20 0 134 Menkes_kinky-hair_syndrome 254 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENG cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 222 222 1.0000 condition_architecture_interpretable 20 0 157 Cardiovascular_phenotype 607 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A3 mondo_mondo_0008762_medgen_c4746745_omim_203780_orphanet_63_orphanet_88919 Autosomal recessive Alport syndrome MONDO:MONDO:0008762,MedGen:C4746745,OMIM:203780,Orphanet:63,Orphanet:88919 222 222 1.0000 condition_architecture_interpretable 20 0 121 Autosomal_recessive_Alport_syndrome 855 large_gene_or_donor_burden_stress_case donor_burden_stress AIRE mondo_mondo_0009411_medgen_c0085859_omim_240300_orphanet_3453 Polyglandular autoimmune syndrome, type 1 MONDO:MONDO:0009411,MedGen:C0085859,OMIM:240300,Orphanet:3453 222 222 1.0000 condition_architecture_interpretable 20 0 34 Polyglandular_autoimmune_syndrome,_type_1 227 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBE3A mondo_mondo_0007113_medgen_c0162635_omim_105830_orphanet_72 Angelman syndrome MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:72 221 221 1.0000 condition_architecture_interpretable 20 0 41 Angelman_syndrome 274 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A3 mondo_mondo_0957811_medgen_c5882699_omim_620536 Alport syndrome 3b, autosomal recessive MONDO:MONDO:0957811,MedGen:C5882699,OMIM:620536 221 221 1.0000 condition_architecture_interpretable 20 0 202 Alport_syndrome_3b,_autosomal_recessive 855 large_gene_or_donor_burden_stress_case donor_burden_stress OCA2 condition_not_provided condition not provided MedGen:C3661900 220 220 1.0000 condition_record_support_limited 20 220 101 not_provided 309 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGR human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 219 219 1.0000 condition_architecture_interpretable 20 0 157 Retinal_dystrophy 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMNA condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 219 219 1.0000 condition_record_support_limited 20 219 178 See_cases|not_provided|not_specified 536 compact_adjacent_exon_block_opportunity local_compact_architecture HBB condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 219 219 1.0000 condition_record_support_limited 20 219 181 .|not_provided|not_specified 428 compact_adjacent_exon_block_opportunity local_compact_architecture SDHB mondo_mondo_0007273_medgen_c1861848_omim_115310_orphanet_29072 Pheochromocytoma/paraganglioma syndrome 4 MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310,Orphanet:29072 218 218 1.0000 condition_architecture_interpretable 20 0 209 Pheochromocytoma/paraganglioma_syndrome_4 280 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TYR condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 216 216 1.0000 condition_record_support_limited 20 216 138 not_provided 311 compact_adjacent_exon_block_opportunity local_compact_architecture SDHA mondo_mondo_0100294_medgen_c5700310_omim_252011_orphanet_3208 Mitochondrial complex II deficiency, nuclear type 1 MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208 216 216 1.0000 condition_architecture_interpretable 20 0 215 Mitochondrial_complex_II_deficiency,_nuclear_type_1 320 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CFTR mondo_mondo_0008185_medgen_c0238339_omim_167800_orphanet_676 Hereditary pancreatitis MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676 216 216 1.0000 condition_architecture_interpretable 20 0 208 Hereditary_pancreatitis 1471 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX1 mondo_mondo_0008953_medgen_c4721541_omim_214100 Peroxisome biogenesis disorder 1A (Zellweger) MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100 215 215 1.0000 condition_architecture_interpretable 20 0 193 Peroxisome_biogenesis_disorder_1A_(Zellweger) 469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP290 mondo_mondo_0012433_medgen_c1857779_omim_610189_orphanet_3156 Senior-Loken syndrome 6 MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156 215 215 1.0000 condition_architecture_interpretable 20 0 214 Senior-Loken_syndrome_6 949 large_gene_or_donor_burden_stress_case donor_burden_stress MYO7A mondo_mondo_0700087_medgen_c2931206 Usher syndrome type 1B MONDO:MONDO:0700087,MedGen:C2931206 214 214 1.0000 condition_architecture_interpretable 20 0 180 Usher_syndrome_type_1B 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FOXG1 mondo_mondo_0100040_medgen_c3150705_omim_613454_orphanet_3095_orphanet_561854 FOXG1 disorder MONDO:MONDO:0100040,MedGen:C3150705,OMIM:613454,Orphanet:3095,Orphanet:561854 214 214 1.0000 condition_architecture_interpretable 20 0 64 FOXG1_disorder 278 single_exon_hotspot_opportunity local_compact_architecture BTK mondo_mondo_0010615_medgen_c0472813_omim_307200_orphanet_231692_orphanet_631 X-linked agammaglobulinemia with growth hormone deficiency MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200,Orphanet:231692,Orphanet:631 214 214 1.0000 condition_architecture_interpretable 20 0 61 X-linked_agammaglobulinemia_with_growth_hormone_deficiency 348 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 mondo_mondo_0013425_medgen_c3151086_omim_613794_orphanet_791 Retinitis pigmentosa 20 MONDO:MONDO:0013425,MedGen:C3151086,OMIM:613794,Orphanet:791 213 213 1.0000 condition_architecture_interpretable 20 0 206 Retinitis_pigmentosa_20 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEXB mondo_mondo_0010006_medgen_c0036161_omim_268800_orphanet_796 Sandhoff disease MONDO:MONDO:0010006,MedGen:C0036161,OMIM:268800,Orphanet:796 213 213 1.0000 condition_architecture_interpretable 20 0 28 Sandhoff_disease 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYSF mondo_mondo_0011721_medgen_c1847532_omim_606768_orphanet_178400 Distal myopathy with anterior tibial onset MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768,Orphanet:178400 213 213 1.0000 condition_architecture_interpretable 20 0 213 Distal_myopathy_with_anterior_tibial_onset 913 large_gene_or_donor_burden_stress_case donor_burden_stress BMPR1A mondo_mondo_0017380_medgen_c0345893_omim_174900_orphanet_2929 Juvenile polyposis syndrome MONDO:MONDO:0017380,MedGen:C0345893,OMIM:174900,Orphanet:2929 213 213 1.0000 condition_architecture_interpretable 20 0 87 Juvenile_polyposis_syndrome 295 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PCDH15 mondo_mondo_0012293_medgen_c1836027_omim_609533_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 23 MONDO:MONDO:0012293,MedGen:C1836027,OMIM:609533,Orphanet:90636 212 212 1.0000 condition_architecture_interpretable 20 0 128 Autosomal_recessive_nonsyndromic_hearing_loss_23 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ABCC6 mondo_mondo_0009925_medgen_cn032334_omim_264800_orphanet_758 Autosomal recessive inherited pseudoxanthoma elasticum MONDO:MONDO:0009925,MedGen:CN032334,OMIM:264800,Orphanet:758 212 212 1.0000 condition_architecture_interpretable 20 0 108 Autosomal_recessive_inherited_pseudoxanthoma_elasticum 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 210 210 1.0000 condition_record_support_limited 20 210 108 not_provided 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NBN mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 210 210 1.0000 condition_architecture_interpretable 20 0 164 Hereditary_cancer-predisposing_syndrome 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CYP27A1 mondo_mondo_0008948_medgen_c0238052_omim_213700_orphanet_909 Cholestanol storage disease MONDO:MONDO:0008948,MedGen:C0238052,OMIM:213700,Orphanet:909 210 210 1.0000 condition_architecture_interpretable 20 0 46 Cholestanol_storage_disease 214 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASPM mondo_mondo_0012106_medgen_c1837501_omim_608716_orphanet_2512 Microcephaly 5, primary, autosomal recessive MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512 210 210 1.0000 condition_architecture_interpretable 20 0 97 Microcephaly_5,_primary,_autosomal_recessive 348 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZFYVE26 mondo_mondo_0010044_medgen_c1849128_omim_270700_orphanet_100996 Hereditary spastic paraplegia 15 MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996 209 209 1.0000 condition_architecture_interpretable 20 0 58 Hereditary_spastic_paraplegia_15 454 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TTN efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 209 209 1.0000 condition_architecture_interpretable 20 0 206 Primary_dilated_cardiomyopathy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress RPGR mondo_mondo_0010227_medgen_c1845667_omim_300029_orphanet_791 Retinitis pigmentosa 3 MONDO:MONDO:0010227,MedGen:C1845667,OMIM:300029,Orphanet:791 209 209 1.0000 condition_architecture_interpretable 20 0 154 Retinitis_pigmentosa_3 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACAT1 mondo_mondo_0008760_medgen_c1536500_omim_203750_orphanet_134 Deficiency of acetyl-CoA acetyltransferase MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134 209 209 1.0000 condition_architecture_interpretable 20 0 21 Deficiency_of_acetyl-CoA_acetyltransferase 212 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGM1 mondo_mondo_0009441_medgen_c4551630_omim_242300 Autosomal recessive congenital ichthyosis 1 MONDO:MONDO:0009441,MedGen:C4551630,OMIM:242300 208 208 1.0000 condition_architecture_interpretable 20 0 107 Autosomal_recessive_congenital_ichthyosis_1 297 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNE mondo_mondo_0011603_medgen_c1853926_omim_605820_orphanet_602 GNE myopathy MONDO:MONDO:0011603,MedGen:C1853926,OMIM:605820,Orphanet:602 208 208 1.0000 condition_architecture_interpretable 20 0 132 GNE_myopathy 223 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EVC mondo_mondo_0008673_medgen_c0457013_omim_193530_orphanet_952 Curry-Hall syndrome MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952 208 208 1.0000 condition_architecture_interpretable 20 0 208 Curry-Hall_syndrome 320 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2D mondo_mondo_0008764_medgen_c2931258_omim_204000_orphanet_65 Leber congenital amaurosis 1 MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65 207 207 1.0000 condition_architecture_interpretable 20 0 160 Leber_congenital_amaurosis_1 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLNA mondo_mondo_0010233_medgen_c1848213_omim_300049_orphanet_2149_orphanet_82004 Heterotopia, periventricular, X-linked dominant MONDO:MONDO:0010233,MedGen:C1848213,OMIM:300049,Orphanet:2149,Orphanet:82004 207 207 1.0000 condition_architecture_interpretable 20 0 153 Heterotopia,_periventricular,_X-linked_dominant 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CDKL5 angelman_syndrome_like Angelman syndrome-like MedGen:CN128785 207 207 1.0000 condition_architecture_interpretable 20 0 207 Angelman_syndrome-like 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASR mondo_mondo_0011013_medgen_c3715128_omim_601198 Autosomal dominant hypocalcemia 1 MONDO:MONDO:0011013,MedGen:C3715128,OMIM:601198 207 207 1.0000 condition_architecture_interpretable 20 0 195 Autosomal_dominant_hypocalcemia_1 313 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSC1 mondo_mondo_0001734_medgen_c0041341_omim_ps191100_orphanet_805 Tuberous sclerosis syndrome MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805 206 206 1.0000 condition_architecture_interpretable 20 0 186 Tuberous_sclerosis_syndrome 739 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ABCC8 mondo_mondo_0009734_medgen_c2931832_omim_256450_orphanet_276575_orphanet_276598 Hyperinsulinemic hypoglycemia, familial, 1 MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598 206 206 1.0000 condition_architecture_interpretable 20 0 141 Hyperinsulinemic_hypoglycemia,_familial,_1 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A2 mondo_mondo_0010966_medgen_c0265274_omim_600972_orphanet_932_orphanet_93298 Achondrogenesis, type IB MONDO:MONDO:0010966,MedGen:C0265274,OMIM:600972,Orphanet:932,Orphanet:93298 205 205 1.0000 condition_architecture_interpretable 20 0 167 Achondrogenesis,_type_IB 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGSH mondo_mondo_0009655_medgen_c0086647_omim_252900_orphanet_581_orphanet_79269 Mucopolysaccharidosis, MPS-III-A MONDO:MONDO:0009655,MedGen:C0086647,OMIM:252900,Orphanet:581,Orphanet:79269 205 205 1.0000 condition_architecture_interpretable 20 0 42 Mucopolysaccharidosis,_MPS-III-A 210 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FRAS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 205 205 1.0000 condition_record_support_limited 20 205 61 not_provided 315 large_gene_or_donor_burden_stress_case donor_burden_stress ELP1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 205 205 1.0000 condition_record_support_limited 20 205 112 not_provided|not_specified 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASR mondo_mondo_0018458_medgen_c1809471_omim_ps145980_orphanet_405 Familial hypocalciuric hypercalcemia MONDO:MONDO:0018458,MedGen:C1809471,OMIM:PS145980,Orphanet:405 205 205 1.0000 condition_architecture_interpretable 20 0 190 Familial_hypocalciuric_hypercalcemia 313 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA2 mondo_mondo_0700269_medgen_cn377758 BRCA2-related cancer predisposition MONDO:MONDO:0700269,MedGen:CN377758 205 205 1.0000 condition_architecture_interpretable 20 0 195 BRCA2-related_cancer_predisposition 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ASPM condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 205 205 1.0000 condition_record_support_limited 20 205 96 not_provided|not_specified 348 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture USH2A mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 Usher syndrome MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 204 204 1.0000 condition_architecture_interpretable 20 0 174 Usher_syndrome 2100 large_gene_or_donor_burden_stress_case donor_burden_stress SDHB human_phenotype_ontology_hp_0002666_mondo_mondo_0008233_medgen_c0031511_omim_171300_orphanet_29072 Pheochromocytoma Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072 204 204 1.0000 condition_architecture_interpretable 20 0 202 Pheochromocytoma 280 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NBAS condition_not_provided condition not provided .|MedGen:C3661900 204 204 1.0000 condition_record_support_limited 20 204 53 See_cases|not_provided 245 large_gene_or_donor_burden_stress_case donor_burden_stress SDHB human_phenotype_ontology_hp_0100723_mondo_mondo_0011719_mesh_d046152_medgen_c0238198_omim_606764_orphanet_44890 Gastrointestinal stromal tumor Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890 203 203 1.0000 condition_architecture_interpretable 20 0 203 Gastrointestinal_stromal_tumor 280 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CAPN3 mondo_mondo_0029133_medgen_c4748295_omim_618129_orphanet_565909 Muscular dystrophy, limb-girdle, autosomal dominant 4 MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129,Orphanet:565909 203 203 1.0000 condition_architecture_interpretable 20 0 170 Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTOF condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 202 202 1.0000 condition_record_support_limited 20 202 73 not_provided|not_specified 355 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL7A1 mondo_mondo_0007549_medgen_c0432322_omim_131750_orphanet_231568 Generalized dominant dystrophic epidermolysis bullosa MONDO:MONDO:0007549,MedGen:C0432322,OMIM:131750,Orphanet:231568 202 202 1.0000 condition_architecture_interpretable 20 0 186 Generalized_dominant_dystrophic_epidermolysis_bullosa 1079 large_gene_or_donor_burden_stress_case donor_burden_stress TTN efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 201 201 1.0000 condition_architecture_interpretable 20 0 37 Primary_dilated_cardiomyopathy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress PRPH2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 200 200 1.0000 condition_record_support_limited 20 200 155 See_cases|not_provided 361 compact_adjacent_exon_block_opportunity local_compact_architecture TCIRG1 mondo_mondo_0009815_medgen_c1850127_omim_259700_orphanet_667 Autosomal recessive osteopetrosis 1 MONDO:MONDO:0009815,MedGen:C1850127,OMIM:259700,Orphanet:667 199 199 1.0000 condition_architecture_interpretable 20 0 100 Autosomal_recessive_osteopetrosis_1 279 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RUNX1 mondo_mondo_0011071_medgen_cn281654_orphanet_71290 Hereditary thrombocytopenia and hematologic cancer predisposition syndrome MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:71290 199 199 1.0000 condition_architecture_interpretable 20 0 183 Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD51C mondo_mondo_0013253_medgen_c3150659_omim_613399_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 3 MONDO:MONDO:0013253,MedGen:C3150659,OMIM:613399,Orphanet:145 199 199 1.0000 condition_architecture_interpretable 20 0 143 Breast-ovarian_cancer,_familial,_susceptibility_to,_3 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control DSP cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 199 199 1.0000 condition_architecture_interpretable 20 0 136 Cardiovascular_phenotype 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BRCA2 mondo_mondo_0011584_medgen_c1838457_omim_605724_orphanet_319462 Fanconi anemia complementation group D1 MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:319462 199 199 1.0000 condition_architecture_interpretable 20 0 197 Fanconi_anemia_complementation_group_D1 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MCCC1 mondo_mondo_0008861_medgen_cn028786_omim_210200_orphanet_6 3-methylcrotonyl-CoA carboxylase 1 deficiency MONDO:MONDO:0008861,MedGen:CN028786,OMIM:210200,Orphanet:6 198 198 1.0000 condition_architecture_interpretable 20 0 43 3-methylcrotonyl-CoA_carboxylase_1_deficiency 203 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB11 mondo_mondo_0011156_medgen_c3489789_omim_601847_orphanet_79304 Progressive familial intrahepatic cholestasis type 2 MONDO:MONDO:0011156,MedGen:C3489789,OMIM:601847,Orphanet:79304 198 198 1.0000 condition_architecture_interpretable 20 0 120 Progressive_familial_intrahepatic_cholestasis_type_2 318 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC4A1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 197 197 1.0000 condition_record_support_limited 20 197 31 not_provided|not_specified 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD51C mondo_mondo_0013248_medgen_c3150653_omim_613390_orphanet_84 Fanconi anemia complementation group O MONDO:MONDO:0013248,MedGen:C3150653,OMIM:613390,Orphanet:84 197 197 1.0000 condition_architecture_interpretable 20 0 147 Fanconi_anemia_complementation_group_O 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control KCNQ2 mondo_mondo_0013387_medgen_c3150986_omim_613720_orphanet_439218 Developmental and epileptic encephalopathy, 7 MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720,Orphanet:439218 197 197 1.0000 condition_architecture_interpretable 20 0 127 Developmental_and_epileptic_encephalopathy,_7 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXT2 mondo_mondo_0007586_medgen_c1851413_omim_133701_orphanet_321 Exostoses, multiple, type 2 MONDO:MONDO:0007586,MedGen:C1851413,OMIM:133701,Orphanet:321 197 197 1.0000 condition_architecture_interpretable 20 0 42 Exostoses,_multiple,_type_2 221 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALPL mondo_mondo_1010154_medgen_c0268413_omim_146300_orphanet_247676_orphanet_436 Adult hypophosphatasia MONDO:MONDO:1010154,MedGen:C0268413,OMIM:146300,Orphanet:247676,Orphanet:436 197 197 1.0000 condition_architecture_interpretable 20 0 181 Adult_hypophosphatasia 532 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACVRL1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 197 197 1.0000 condition_architecture_interpretable 20 0 145 Cardiovascular_phenotype 546 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF4 mondo_mondo_0012589_medgen_c1970431_omim_610954_orphanet_2896 Pitt-Hopkins syndrome MONDO:MONDO:0012589,MedGen:C1970431,OMIM:610954,Orphanet:2896 196 196 1.0000 condition_architecture_interpretable 20 0 53 Pitt-Hopkins_syndrome 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BAP1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 195 195 1.0000 condition_architecture_interpretable 20 0 111 Hereditary_cancer-predisposing_syndrome 413 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ALPK3 condition_not_provided condition not provided MedGen:C3661900 195 195 1.0000 condition_record_support_limited 20 195 59 not_provided 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA4 mondo_mondo_0013224_medgen_c2750074_omim_613325_orphanet_231108_orphanet_69077 Rhabdoid tumor predisposition syndrome 2 MONDO:MONDO:0013224,MedGen:C2750074,OMIM:613325,Orphanet:231108,Orphanet:69077 194 194 1.0000 condition_architecture_interpretable 20 0 43 Rhabdoid_tumor_predisposition_syndrome_2 321 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCDH15 mondo_mondo_0011186_medgen_c1865885_omim_602083_orphanet_231169_orphanet_886 Usher syndrome type 1F MONDO:MONDO:0011186,MedGen:C1865885,OMIM:602083,Orphanet:231169,Orphanet:886 194 194 1.0000 condition_architecture_interpretable 20 0 134 Usher_syndrome_type_1F 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLCN mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 194 194 1.0000 condition_architecture_interpretable 20 0 139 Hereditary_cancer-predisposing_syndrome 425 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BBS10 mondo_mondo_0014438_medgen_c1859568_omim_615987_orphanet_110 Bardet-Biedl syndrome 10 MONDO:MONDO:0014438,MedGen:C1859568,OMIM:615987,Orphanet:110 194 194 1.0000 condition_architecture_interpretable 20 0 96 Bardet-Biedl_syndrome_10 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN1A mondo_mondo_0011461_medgen_c1858673_omim_604403_orphanet_36387 Generalized epilepsy with febrile seizures plus, type 2 MONDO:MONDO:0011461,MedGen:C1858673,OMIM:604403,Orphanet:36387 193 193 1.0000 condition_architecture_interpretable 20 0 118 Generalized_epilepsy_with_febrile_seizures_plus,_type_2 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RTEL1 mondo_mondo_0014613_medgen_c4225346_omim_616373_orphanet_2032 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 MONDO:MONDO:0014613,MedGen:C4225346,OMIM:616373,Orphanet:2032 193 193 1.0000 condition_architecture_interpretable 20 0 191 Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 mondo_mondo_0100316_medgen_c4551647_omim_192500_orphanet_101016_orphanet_768 Long QT syndrome 1 MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768 193 193 1.0000 condition_architecture_interpretable 20 0 149 Long_QT_syndrome_1 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLG condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 193 193 1.0000 condition_record_support_limited 20 193 67 not_provided 246 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CAPN3 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 193 193 1.0000 condition_record_support_limited 20 193 162 See_cases|not_provided|not_specified 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTN mondo_mondo_0012714_medgen_c2673677_omim_611705_orphanet_289377 Early-onset myopathy with fatal cardiomyopathy MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377 192 192 1.0000 condition_architecture_interpretable 20 0 162 Early-onset_myopathy_with_fatal_cardiomyopathy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress GBE1 mondo_mondo_0009292_medgen_c0017923_omim_232500_orphanet_367 Glycogen storage disease, type IV MONDO:MONDO:0009292,MedGen:C0017923,OMIM:232500,Orphanet:367 192 192 1.0000 condition_architecture_interpretable 20 0 146 Glycogen_storage_disease,_type_IV 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCC mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 Fanconi anemia MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 192 192 1.0000 condition_architecture_interpretable 20 0 111 Fanconi_anemia 301 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENG mondo_mondo_0008535_medgen_c4551861_omim_187300_orphanet_774 Telangiectasia, hereditary hemorrhagic, type 1 MONDO:MONDO:0008535,MedGen:C4551861,OMIM:187300,Orphanet:774 192 192 1.0000 condition_architecture_interpretable 20 0 117 Telangiectasia,_hereditary_hemorrhagic,_type_1 607 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DUOX2 condition_not_provided condition not provided MedGen:C3661900 192 192 1.0000 condition_record_support_limited 20 192 65 not_provided 239 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX3X condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 192 192 1.0000 condition_record_support_limited 20 192 68 See_cases|not_provided|not_specified 366 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A3 mondo_mondo_0958186_medgen_c5830421_omim_620320 Hematuria, benign familial, 2 MONDO:MONDO:0958186,MedGen:C5830421,OMIM:620320 192 192 1.0000 condition_architecture_interpretable 20 0 191 Hematuria,_benign_familial,_2 855 large_gene_or_donor_burden_stress_case donor_burden_stress PEX1 medgen_c4551980_omim_234580_orphanet_3220 Heimler syndrome 1 MedGen:C4551980,OMIM:234580,Orphanet:3220 191 191 1.0000 condition_architecture_interpretable 20 0 144 Heimler_syndrome_1 469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSC1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 190 190 1.0000 condition_record_support_limited 20 190 128 See_cases|not_provided 739 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MYH7 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 190 190 1.0000 condition_record_support_limited 20 190 149 not_provided|not_specified 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture HLCS mondo_mondo_0009666_medgen_c0268581_omim_253270_orphanet_79242 Holocarboxylase synthetase deficiency MONDO:MONDO:0009666,MedGen:C0268581,OMIM:253270,Orphanet:79242 190 190 1.0000 condition_architecture_interpretable 20 0 8 Holocarboxylase_synthetase_deficiency 194 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCK human_phenotype_ontology_hp_0004904_mondo_mondo_0018911_medgen_c0342276_omim_ps125850_orphanet_552 Maturity-onset diabetes of the young Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552 190 190 1.0000 condition_architecture_interpretable 20 0 166 Maturity-onset_diabetes_of_the_young 655 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA2 mondo_mondo_0013540_medgen_c3279664_omim_614038_orphanet_3226 Deafness-lymphedema-leukemia syndrome MONDO:MONDO:0013540,MedGen:C3279664,OMIM:614038,Orphanet:3226 190 190 1.0000 condition_architecture_interpretable 20 0 187 Deafness-lymphedema-leukemia_syndrome 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EHMT1 mondo_mondo_0027407_medgen_c0795833_omim_610253_orphanet_261494 Kleefstra syndrome 1 MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494 190 190 1.0000 condition_architecture_interpretable 20 0 34 Kleefstra_syndrome_1 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 mondo_mondo_0100039_medgen_cn296942 CDKL5 disorder MONDO:MONDO:0100039,MedGen:CN296942 190 190 1.0000 condition_architecture_interpretable 20 0 155 CDKL5_disorder 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS2 mondo_mondo_0014432_medgen_c2936863_omim_615981_orphanet_110 Bardet-Biedl syndrome 2 MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981,Orphanet:110 190 190 1.0000 condition_architecture_interpretable 20 0 107 Bardet-Biedl_syndrome_2 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIF1 mondo_mondo_0030281_medgen_c5543431_omim_619334 Arthrogryposis multiplex congenita 6 MONDO:MONDO:0030281,MedGen:C5543431,OMIM:619334 189 189 1.0000 condition_architecture_interpretable 20 0 139 Arthrogryposis_multiplex_congenita_6 500 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NTRK1 mondo_mondo_0009746_medgen_c0020074_omim_256800_orphanet_642 Hereditary insensitivity to pain with anhidrosis MONDO:MONDO:0009746,MedGen:C0020074,OMIM:256800,Orphanet:642 189 189 1.0000 condition_architecture_interpretable 20 0 25 Hereditary_insensitivity_to_pain_with_anhidrosis 199 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCCC2 mondo_mondo_0008862_medgen_c1859499_omim_210210_orphanet_6 3-methylcrotonyl-CoA carboxylase 2 deficiency MONDO:MONDO:0008862,MedGen:C1859499,OMIM:210210,Orphanet:6 189 189 1.0000 condition_architecture_interpretable 20 0 40 3-methylcrotonyl-CoA_carboxylase_2_deficiency 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA1 mondo_mondo_0054748_medgen_c4554406_omim_617883 Fanconi anemia, complementation group S MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883 189 189 1.0000 condition_architecture_interpretable 20 0 182 Fanconi_anemia,_complementation_group_S 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control AHI1 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 189 189 1.0000 condition_architecture_interpretable 20 0 73 Joubert_syndrome 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD51D mondo_mondo_0013669_medgen_c3280345_omim_614291_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 4 MONDO:MONDO:0013669,MedGen:C3280345,OMIM:614291,Orphanet:145 188 188 1.0000 condition_architecture_interpretable 20 0 97 Breast-ovarian_cancer,_familial,_susceptibility_to,_4 245 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control EPG5 mondo_mondo_0009452_medgen_c1855772_omim_242840_orphanet_1493 Vici syndrome MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840,Orphanet:1493 188 188 1.0000 condition_architecture_interpretable 20 0 20 Vici_syndrome 213 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TGM1 condition_not_provided condition not provided MedGen:C3661900 187 187 1.0000 condition_record_support_limited 20 187 102 not_provided 297 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEN1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 187 187 1.0000 condition_record_support_limited 20 187 137 not_provided|not_specified 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control HNF1A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 187 187 1.0000 condition_record_support_limited 20 187 122 not_provided|not_specified 384 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBS mondo_mondo_0009352_medgen_c0751202_omim_236200_orphanet_394 Classic homocystinuria MONDO:MONDO:0009352,MedGen:C0751202,OMIM:236200,Orphanet:394 187 187 1.0000 condition_architecture_interpretable 20 0 107 Classic_homocystinuria 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP53 human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Ovarian neoplasm Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 186 186 1.0000 condition_architecture_interpretable 20 0 143 Ovarian_neoplasm 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RMRP mondo_mondo_0009595_medgen_c0220748_omim_250250_orphanet_175 Metaphyseal chondrodysplasia, McKusick type MONDO:MONDO:0009595,MedGen:C0220748,OMIM:250250,Orphanet:175 186 186 1.0000 condition_architecture_interpretable 20 0 126 Metaphyseal_chondrodysplasia,_McKusick_type 302 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation TH mondo_mondo_0011551_medgen_c2673535_omim_605407_orphanet_101150 Autosomal recessive DOPA responsive dystonia MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150 185 185 1.0000 condition_architecture_interpretable 20 0 15 Autosomal_recessive_DOPA_responsive_dystonia 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACSF3 mondo_mondo_0013661_medgen_c3280314_omim_614265_orphanet_289504 Combined malonic and methylmalonic acidemia MONDO:MONDO:0013661,MedGen:C3280314,OMIM:614265,Orphanet:289504 185 185 1.0000 condition_architecture_interpretable 20 0 10 Combined_malonic_and_methylmalonic_acidemia 186 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RYR2 mondo_mondo_0011484_medgen_c1631597_omim_604772_orphanet_3286 Catecholaminergic polymorphic ventricular tachycardia 1 MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286 184 184 1.0000 condition_architecture_interpretable 20 0 57 Catecholaminergic_polymorphic_ventricular_tachycardia_1 254 large_gene_or_donor_burden_stress_case donor_burden_stress MPL mondo_mondo_0800451_medgen_c1327915_omim_ps604498_orphanet_3319 Congenital amegakaryocytic thrombocytopenia MONDO:MONDO:0800451,MedGen:C1327915,OMIM:PS604498,Orphanet:3319 184 184 1.0000 condition_architecture_interpretable 20 0 129 Congenital_amegakaryocytic_thrombocytopenia 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMB3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 184 184 1.0000 condition_record_support_limited 20 184 78 not_provided 305 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL5 mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 Meckel-Gruber syndrome MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 184 184 1.0000 condition_architecture_interpretable 20 0 183 Meckel-Gruber_syndrome 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAH mondo_mondo_0010161_medgen_c0268490_omim_276700_orphanet_882 Tyrosinemia type I MONDO:MONDO:0010161,MedGen:C0268490,OMIM:276700,Orphanet:882 184 184 1.0000 condition_architecture_interpretable 20 0 20 Tyrosinemia_type_I 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL18A1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 184 184 1.0000 condition_record_support_limited 20 184 29 not_provided 214 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VHL mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 183 183 1.0000 condition_architecture_interpretable 20 0 138 Hereditary_cancer-predisposing_syndrome 432 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SMAD4 mondo_mondo_0017380_medgen_c0345893_omim_174900_orphanet_2929 Juvenile polyposis syndrome MONDO:MONDO:0017380,MedGen:C0345893,OMIM:174900,Orphanet:2929 183 183 1.0000 condition_architecture_interpretable 20 0 84 Juvenile_polyposis_syndrome 300 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FBXL5 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 183 183 1.0000 condition_architecture_interpretable 20 0 183 Joubert_syndrome 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UNC13D mondo_mondo_0012146_medgen_c1837174_omim_608898_orphanet_540 Familial hemophagocytic lymphohistiocytosis 3 MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540 182 182 1.0000 condition_architecture_interpretable 20 0 34 Familial_hemophagocytic_lymphohistiocytosis_3 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPTA1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 182 182 1.0000 condition_record_support_limited 20 182 26 See_cases|not_provided 210 large_gene_or_donor_burden_stress_case donor_burden_stress FANCI mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 Fanconi anemia MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 182 182 1.0000 condition_architecture_interpretable 20 0 66 Fanconi_anemia 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F8 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 182 182 1.0000 condition_record_support_limited 20 182 92 See_cases|not_provided|not_specified 641 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture GALT human_phenotype_ontology_hp_0004919_mondo_mondo_0018116_medgen_c0016952_omim_ps230400_orphanet_352 Galactosemia Human_Phenotype_Ontology:HP:0004919,MONDO:MONDO:0018116,MedGen:C0016952,OMIM:PS230400,Orphanet:352 181 181 1.0000 condition_architecture_interpretable 20 0 138 Galactosemia 333 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPT1A mondo_mondo_0009705_medgen_c1829703_omim_255120_orphanet_156 Carnitine palmitoyl transferase 1A deficiency MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120,Orphanet:156 181 181 1.0000 condition_architecture_interpretable 20 0 11 Carnitine_palmitoyl_transferase_1A_deficiency 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBS medgen_c3150344 HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED MedGen:C3150344 181 181 1.0000 condition_architecture_interpretable 20 0 108 HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCOF1 mondo_mondo_0007944_medgen_cn315775_omim_154500_orphanet_861 Treacher Collins syndrome 1 MONDO:MONDO:0007944,MedGen:CN315775,OMIM:154500,Orphanet:861 180 180 1.0000 condition_architecture_interpretable 20 0 27 Treacher_Collins_syndrome_1 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT140 mondo_mondo_0009964_medgen_c1849437_omim_266920_orphanet_140969 Saldino-Mainzer syndrome MONDO:MONDO:0009964,MedGen:C1849437,OMIM:266920,Orphanet:140969 180 180 1.0000 condition_architecture_interpretable 20 0 113 Saldino-Mainzer_syndrome 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB11 condition_not_provided condition not provided MedGen:C3661900 180 180 1.0000 condition_record_support_limited 20 180 107 not_provided 318 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCD2 mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 Fanconi anemia MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 179 179 1.0000 condition_architecture_interpretable 20 0 69 Fanconi_anemia 279 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC6 mondo_mondo_0019570_medgen_c0751038_omim_133540_orphanet_191_orphanet_90322 Cockayne syndrome type 2 MONDO:MONDO:0019570,MedGen:C0751038,OMIM:133540,Orphanet:191,Orphanet:90322 179 179 1.0000 condition_architecture_interpretable 20 0 102 Cockayne_syndrome_type_2 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL3A1 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 179 179 1.0000 condition_architecture_interpretable 20 0 132 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 937 large_gene_or_donor_burden_stress_case donor_burden_stress SYNE1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 178 178 1.0000 condition_record_support_limited 20 178 61 not_provided|not_specified 379 large_gene_or_donor_burden_stress_case donor_burden_stress FANCC mondo_mondo_0009213_medgen_c3468041_omim_227645_orphanet_84 Fanconi anemia complementation group C MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645,Orphanet:84 178 178 1.0000 condition_architecture_interpretable 20 0 106 Fanconi_anemia_complementation_group_C 301 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Type 2 diabetes mellitus Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 178 178 1.0000 condition_architecture_interpretable 20 0 133 Type_2_diabetes_mellitus 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCIRG1 condition_not_provided condition not provided MedGen:C3661900 177 177 1.0000 condition_record_support_limited 20 177 100 not_provided 279 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEB mondo_mondo_0018958_medgen_c0206157_omim_ps161800_orphanet_607 Nemaline myopathy MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607 177 177 1.0000 condition_architecture_interpretable 20 0 128 Nemaline_myopathy 1871 large_gene_or_donor_burden_stress_case donor_burden_stress HGSNAT mondo_mondo_0009657_medgen_c0086649_omim_252930_orphanet_581_orphanet_79271 Mucopolysaccharidosis, MPS-III-C MONDO:MONDO:0009657,MedGen:C0086649,OMIM:252930,Orphanet:581,Orphanet:79271 177 177 1.0000 condition_architecture_interpretable 20 0 120 Mucopolysaccharidosis,_MPS-III-C 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX3X mondo_mondo_0010497_medgen_c5393299_omim_300958_orphanet_457260 Intellectual disability, X-linked 102 MONDO:MONDO:0010497,MedGen:C5393299,OMIM:300958,Orphanet:457260 177 177 1.0000 condition_architecture_interpretable 20 0 54 Intellectual_disability,_X-linked_102 366 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA2 mondo_mondo_0013235_medgen_c3150546_omim_613347_orphanet_1333 Pancreatic cancer, susceptibility to, 2 MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347,Orphanet:1333 177 177 1.0000 condition_architecture_interpretable 20 0 176 Pancreatic_cancer,_susceptibility_to,_2 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APOB mondo_mondo_0007751_medgen_c1704417_omim_144010 Hypercholesterolemia, autosomal dominant, type B MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010 177 177 1.0000 condition_architecture_interpretable 20 0 156 Hypercholesterolemia,_autosomal_dominant,_type_B 248 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PEX6 mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 Peroxisome biogenesis disorder MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 176 176 1.0000 condition_architecture_interpretable 20 0 89 Peroxisome_biogenesis_disorder 301 compact_adjacent_exon_block_opportunity local_compact_architecture PAX6 human_phenotype_ontology_hp_0000659_mondo_mondo_0011414_medgen_c0344559_omim_604229_orphanet_708 Irido-corneo-trabecular dysgenesis Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708 176 176 1.0000 condition_architecture_interpretable 20 0 173 Irido-corneo-trabecular_dysgenesis 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEB condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 176 176 1.0000 condition_record_support_limited 20 176 127 See_cases|not_provided 1871 large_gene_or_donor_burden_stress_case donor_burden_stress MMACHC mondo_mondo_0010184_medgen_c1848561_omim_277400_orphanet_26_orphanet_79282 Cobalamin C disease MONDO:MONDO:0010184,MedGen:C1848561,OMIM:277400,Orphanet:26,Orphanet:79282 176 176 1.0000 condition_architecture_interpretable 20 0 32 Cobalamin_C_disease 178 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 176 176 1.0000 condition_architecture_interpretable 20 0 159 Cardiovascular_phenotype 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYSF mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 Autosomal recessive limb-girdle muscular dystrophy MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 176 176 1.0000 condition_architecture_interpretable 20 0 156 Autosomal_recessive_limb-girdle_muscular_dystrophy 913 large_gene_or_donor_burden_stress_case donor_burden_stress TG condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 175 175 1.0000 condition_record_support_limited 20 175 31 not_provided 241 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SGCA mondo_mondo_0011968_medgen_c2936332_omim_608099_orphanet_62 Autosomal recessive limb-girdle muscular dystrophy type 2D MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099,Orphanet:62 175 175 1.0000 condition_architecture_interpretable 20 0 45 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D 186 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PC mondo_mondo_0009949_medgen_c0034341_omim_266150_orphanet_3008 Pyruvate carboxylase deficiency MONDO:MONDO:0009949,MedGen:C0034341,OMIM:266150,Orphanet:3008 175 175 1.0000 condition_architecture_interpretable 20 0 4 Pyruvate_carboxylase_deficiency 180 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 mondo_mondo_0009076_medgen_c2673759_omim_220290_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 1A MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290,Orphanet:90636 175 175 1.0000 condition_architecture_interpretable 20 0 140 Autosomal_recessive_nonsyndromic_hearing_loss_1A 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL7A1 mondo_mondo_0007548_medgen_c1851573_omim_131705_orphanet_79411 Transient bullous dermolysis of the newborn MONDO:MONDO:0007548,MedGen:C1851573,OMIM:131705,Orphanet:79411 175 175 1.0000 condition_architecture_interpretable 20 0 168 Transient_bullous_dermolysis_of_the_newborn 1079 large_gene_or_donor_burden_stress_case donor_burden_stress ATP7B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 175 175 1.0000 condition_record_support_limited 20 175 158 not_provided|not_specified 858 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNH2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 174 174 1.0000 condition_architecture_interpretable 20 0 128 Cardiovascular_phenotype 720 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB1 charcot_marie_tooth_neuropathy_x Charcot-Marie-Tooth Neuropathy X MedGen:CN118851 174 174 1.0000 condition_architecture_interpretable 20 0 112 Charcot-Marie-Tooth_Neuropathy_X 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSP condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 174 174 1.0000 condition_record_support_limited 20 174 126 not_provided|not_specified 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CDH23 mondo_mondo_0011067_medgen_c1832394_omim_601386_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 12 MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636 174 174 1.0000 condition_architecture_interpretable 20 0 100 Autosomal_recessive_nonsyndromic_hearing_loss_12 725 large_gene_or_donor_burden_stress_case donor_burden_stress SPATA22 mondo_mondo_0010079_medgen_c0206307_omim_271900_orphanet_141 Spongy degeneration of central nervous system MONDO:MONDO:0010079,MedGen:C0206307,OMIM:271900,Orphanet:141 173 173 1.0000 condition_architecture_interpretable 20 0 43 Spongy_degeneration_of_central_nervous_system 186 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SLC26A2 mondo_mondo_0009189_medgen_c1847593_omim_226900_orphanet_93307 Multiple epiphyseal dysplasia type 4 MONDO:MONDO:0009189,MedGen:C1847593,OMIM:226900,Orphanet:93307 173 173 1.0000 condition_architecture_interpretable 20 0 162 Multiple_epiphyseal_dysplasia_type_4 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RASA1 mondo_mondo_0012016_medgen_c1842180_omim_ps608354_orphanet_137667 Capillary malformation-arteriovenous malformation syndrome MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667 173 173 1.0000 condition_architecture_interpretable 20 0 44 Capillary_malformation-arteriovenous_malformation_syndrome 285 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RARS2 mondo_mondo_0012683_medgen_c1969084_omim_611523_orphanet_166073 Pontocerebellar hypoplasia type 6 MONDO:MONDO:0012683,MedGen:C1969084,OMIM:611523,Orphanet:166073 173 173 1.0000 condition_architecture_interpretable 20 0 96 Pontocerebellar_hypoplasia_type_6 242 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 173 173 1.0000 condition_record_support_limited 20 173 127 not_provided|not_specified 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBN1 marfan_syndrome_loeys_dietz_syndrome_familial_thoracic_aortic_aneurysms_and_dissections Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections MedGen:CN229799 173 173 1.0000 condition_architecture_interpretable 20 0 128 Marfan_Syndrome/Loeys-Dietz_Syndrome/Familial_Thoracic_Aortic_Aneurysms_and_Dissections 3554 large_gene_or_donor_burden_stress_case donor_burden_stress DMPK mondo_mondo_0008056_medgen_c3250443_omim_160900_orphanet_273 Steinert myotonic dystrophy syndrome MONDO:MONDO:0008056,MedGen:C3250443,OMIM:160900,Orphanet:273 173 173 1.0000 condition_architecture_interpretable 20 0 0 Steinert_myotonic_dystrophy_syndrome 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A2 mondo_mondo_0024530_medgen_cn029274_omim_158810_orphanet_610 Bethlem myopathy 1A MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610 173 173 1.0000 condition_architecture_interpretable 20 0 64 Bethlem_myopathy_1A 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGB3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 173 173 1.0000 condition_record_support_limited 20 173 89 not_provided 271 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASS1 mondo_mondo_0008988_medgen_c4721769_omim_215700_orphanet_247525 Citrullinemia type I MONDO:MONDO:0008988,MedGen:C4721769,OMIM:215700,Orphanet:247525 173 173 1.0000 condition_architecture_interpretable 20 0 93 Citrullinemia_type_I 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASPA mondo_mondo_0010079_medgen_c0206307_omim_271900_orphanet_141 Spongy degeneration of central nervous system MONDO:MONDO:0010079,MedGen:C0206307,OMIM:271900,Orphanet:141 173 173 1.0000 condition_architecture_interpretable 20 0 43 Spongy_degeneration_of_central_nervous_system 182 compact_adjacent_exon_block_opportunity local_compact_architecture ABCC6 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 173 173 1.0000 condition_record_support_limited 20 173 94 See_cases|not_provided 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA4 mondo_mondo_0011137_medgen_c1866422_omim_601718_orphanet_791 Retinitis pigmentosa 19 MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718,Orphanet:791 173 173 1.0000 condition_architecture_interpretable 20 0 165 Retinitis_pigmentosa_19 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 mondo_mondo_0011395_medgen_c1858806_omim_604116_orphanet_1872 Cone-rod dystrophy 3 MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116,Orphanet:1872 173 173 1.0000 condition_architecture_interpretable 20 0 163 Cone-rod_dystrophy_3 1464 large_gene_or_donor_burden_stress_case donor_burden_stress PPT1 mondo_mondo_0009744_medgen_c1850451_omim_256730_orphanet_228329 Neuronal ceroid lipofuscinosis 1 MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329 172 172 1.0000 condition_architecture_interpretable 20 0 37 Neuronal_ceroid_lipofuscinosis_1 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMA2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 171 171 1.0000 condition_record_support_limited 20 171 127 See_cases|not_provided|not_specified 953 large_gene_or_donor_burden_stress_case donor_burden_stress GRIN2B mondo_mondo_0013509_medgen_c3151411_omim_613970_orphanet_589547 Intellectual disability, autosomal dominant 6 MONDO:MONDO:0013509,MedGen:C3151411,OMIM:613970,Orphanet:589547 171 171 1.0000 condition_architecture_interpretable 20 0 103 Intellectual_disability,_autosomal_dominant_6 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL3A1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 171 171 1.0000 condition_record_support_limited 20 171 110 See_cases|not_provided 937 large_gene_or_donor_burden_stress_case donor_burden_stress SDHA mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 170 170 1.0000 condition_architecture_interpretable 20 0 119 Hereditary_cancer-predisposing_syndrome 320 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control EYS human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 170 170 1.0000 condition_architecture_interpretable 20 0 117 Retinal_dystrophy 1068 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CPT2 mondo_mondo_0015515_medgen_c0342790_orphanet_157 Carnitine palmitoyltransferase II deficiency MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157 170 170 1.0000 condition_architecture_interpretable 20 0 79 Carnitine_palmitoyltransferase_II_deficiency 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA2 human_phenotype_ontology_hp_0002885_mondo_mondo_0007959_mesh_d008527_medgen_c0025149_omim_155255_orphanet_616 Medulloblastoma Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616 170 170 1.0000 condition_architecture_interpretable 20 0 170 Medulloblastoma 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ALPL mondo_mondo_1010169_medgen_c0268412_omim_241500_orphanet_247651_orphanet_436 Infantile hypophosphatasia MONDO:MONDO:1010169,MedGen:C0268412,OMIM:241500,Orphanet:247651,Orphanet:436 170 170 1.0000 condition_architecture_interpretable 20 0 162 Infantile_hypophosphatasia 532 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH7A1 mondo_mondo_0009945_medgen_c1849508_omim_266100_orphanet_3006 Pyridoxine-dependent epilepsy MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006 170 170 1.0000 condition_architecture_interpretable 20 0 50 Pyridoxine-dependent_epilepsy 184 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A2 mondo_mondo_0009107_medgen_c0220726_omim_222600_orphanet_628 Diastrophic dysplasia MONDO:MONDO:0009107,MedGen:C0220726,OMIM:222600,Orphanet:628 169 169 1.0000 condition_architecture_interpretable 20 0 159 Diastrophic_dysplasia 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD51C mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 169 169 1.0000 condition_architecture_interpretable 20 0 129 Hereditary_cancer-predisposing_syndrome 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PIGN mondo_mondo_0013563_medgen_c3279775_omim_614080_orphanet_280633 Multiple congenital anomalies-hypotonia-seizures syndrome 1 MONDO:MONDO:0013563,MedGen:C3279775,OMIM:614080,Orphanet:280633 169 169 1.0000 condition_architecture_interpretable 20 0 36 Multiple_congenital_anomalies-hypotonia-seizures_syndrome_1 179 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL11A1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 169 169 1.0000 condition_record_support_limited 20 169 26 See_cases|not_provided 248 large_gene_or_donor_burden_stress_case donor_burden_stress BRCA2 mondo_mondo_0008679_medgen_cn033288_omim_194070_orphanet_654 Wilms tumor 1 MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070,Orphanet:654 169 169 1.0000 condition_architecture_interpretable 20 0 169 Wilms_tumor_1 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_0013093_medgen_c2751641_omim_613029_orphanet_182067_orphanet_360 Glioma susceptibility 3 MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029,Orphanet:182067,Orphanet:360 169 169 1.0000 condition_architecture_interpretable 20 0 169 Glioma_susceptibility_3 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APOB mondo_mondo_0014252_medgen_c4551990_omim_615558 Familial hypobetalipoproteinemia 1 MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558 169 169 1.0000 condition_architecture_interpretable 20 0 158 Familial_hypobetalipoproteinemia_1 248 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture STK11 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 168 168 1.0000 condition_architecture_interpretable 20 0 90 Hereditary_cancer-predisposing_syndrome 395 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control G6PC1 mondo_mondo_0009287_medgen_c2919796_omim_232200_orphanet_364_orphanet_79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type IA MONDO:MONDO:0009287,MedGen:C2919796,OMIM:232200,Orphanet:364,Orphanet:79258 168 168 1.0000 condition_architecture_interpretable 20 0 28 Glycogen_storage_disease_due_to_glucose-6-phosphatase_deficiency_type_IA 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYRK1A mondo_mondo_0013578_medgen_c5568143_omim_614104_orphanet_464306 DYRK1A-related intellectual disability syndrome MONDO:MONDO:0013578,MedGen:C5568143,OMIM:614104,Orphanet:464306 168 168 1.0000 condition_architecture_interpretable 20 0 48 DYRK1A-related_intellectual_disability_syndrome 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL7A1 mondo_mondo_0011398_medgen_c1275114_omim_604129_orphanet_89843 Epidermolysis bullosa pruriginosa MONDO:MONDO:0011398,MedGen:C1275114,OMIM:604129,Orphanet:89843 168 168 1.0000 condition_architecture_interpretable 20 0 164 Epidermolysis_bullosa_pruriginosa 1079 large_gene_or_donor_burden_stress_case donor_burden_stress BMPR2 human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Pulmonary arterial hypertension Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 168 168 1.0000 condition_architecture_interpretable 20 0 100 Pulmonary_arterial_hypertension 502 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSC2 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 167 167 1.0000 condition_architecture_interpretable 20 0 115 Hereditary_cancer-predisposing_syndrome 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SLC2A1 medgen_c3149117 GLUT1 deficiency syndrome 1, autosomal recessive MedGen:C3149117 167 167 1.0000 condition_architecture_interpretable 20 0 62 GLUT1_deficiency_syndrome_1,_autosomal_recessive 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTHFR mondo_mondo_0009353_medgen_c1856061_omim_236250_orphanet_395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:MONDO:0009353,MedGen:C1856061,OMIM:236250,Orphanet:395 167 167 1.0000 condition_architecture_interpretable 20 0 67 Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPS3 mondo_mondo_0013555_medgen_c3888001_omim_614072_orphanet_231512_orphanet_79430 Hermansky-Pudlak syndrome 3 MONDO:MONDO:0013555,MedGen:C3888001,OMIM:614072,Orphanet:231512,Orphanet:79430 167 167 1.0000 condition_architecture_interpretable 20 0 78 Hermansky-Pudlak_syndrome_3 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCM mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 Fanconi anemia MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 167 167 1.0000 condition_architecture_interpretable 20 0 48 Fanconi_anemia 201 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL7A1 human_phenotype_ontology_hp_0012221_mondo_mondo_0007552_medgen_c0432321_omim_131850_orphanet_79410 Pretibial dystrophic epidermolysis bullosa Human_Phenotype_Ontology:HP:0012221,MONDO:MONDO:0007552,MedGen:C0432321,OMIM:131850,Orphanet:79410 167 167 1.0000 condition_architecture_interpretable 20 0 166 Pretibial_dystrophic_epidermolysis_bullosa 1079 large_gene_or_donor_burden_stress_case donor_burden_stress BLM mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 166 166 1.0000 condition_architecture_interpretable 20 0 131 Hereditary_cancer-predisposing_syndrome 583 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SYNE1 mondo_mondo_0013071_medgen_c2751807_omim_612998_orphanet_261 Emery-Dreifuss muscular dystrophy 4, autosomal dominant MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261 165 165 1.0000 condition_architecture_interpretable 20 0 158 Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant 379 large_gene_or_donor_burden_stress_case donor_burden_stress STXBP1 mondo_mondo_0012812_medgen_c2677326_omim_612164_orphanet_1934_orphanet_33069_orphanet_599373 Developmental and epileptic encephalopathy, 4 MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164,Orphanet:1934,Orphanet:33069,Orphanet:599373 165 165 1.0000 condition_architecture_interpretable 20 0 61 Developmental_and_epileptic_encephalopathy,_4 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A8 mondo_mondo_0010305_medgen_c1845862_omim_300352_orphanet_52503 Creatine transporter deficiency MONDO:MONDO:0010305,MedGen:C1845862,OMIM:300352,Orphanet:52503 165 165 1.0000 condition_architecture_interpretable 20 0 27 Creatine_transporter_deficiency 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMA3 condition_not_provided condition not provided MedGen:C3661900 165 165 1.0000 condition_record_support_limited 20 165 42 not_provided 266 large_gene_or_donor_burden_stress_case donor_burden_stress IVD mondo_mondo_0009475_medgen_c0268575_omim_243500_orphanet_33 Isovaleryl-CoA dehydrogenase deficiency MONDO:MONDO:0009475,MedGen:C0268575,OMIM:243500,Orphanet:33 165 165 1.0000 condition_architecture_interpretable 20 0 25 Isovaleryl-CoA_dehydrogenase_deficiency 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DST mondo_mondo_0013839_medgen_c3539003_omim_614653_orphanet_314381 Hereditary sensory and autonomic neuropathy type 6 MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381 165 165 1.0000 condition_architecture_interpretable 20 0 151 Hereditary_sensory_and_autonomic_neuropathy_type_6 196 large_gene_or_donor_burden_stress_case donor_burden_stress BCKDHB mondo_mondo_0009563_mesh_d008375_medgen_c0024776_omim_ps248600_orphanet_511 Maple syrup urine disease MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511 165 165 1.0000 condition_architecture_interpretable 20 0 98 Maple_syrup_urine_disease 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX1 mondo_mondo_0011101_medgen_c0282527_omim_601539_orphanet_44 Peroxisome biogenesis disorder 1B MONDO:MONDO:0011101,MedGen:C0282527,OMIM:601539,Orphanet:44 164 164 1.0000 condition_architecture_interpretable 20 0 164 Peroxisome_biogenesis_disorder_1B 469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 mondo_mondo_0008070_medgen_c3711389_omim_161800_orphanet_98904 Actin accumulation myopathy MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904 164 164 1.0000 condition_architecture_interpretable 20 0 70 Actin_accumulation_myopathy 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTN mondo_mondo_0010870_medgen_c1838244_omim_600334_orphanet_609 Tibial muscular dystrophy MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609 163 163 1.0000 condition_architecture_interpretable 20 0 154 Tibial_muscular_dystrophy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN mondo_mondo_0013412_medgen_c1861065_omim_613765 Hypertrophic cardiomyopathy 9 MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765 163 163 1.0000 condition_architecture_interpretable 20 0 158 Hypertrophic_cardiomyopathy_9 5807 large_gene_or_donor_burden_stress_case donor_burden_stress SPG7 mondo_mondo_0011803_medgen_c1846564_omim_607259_orphanet_99013 Hereditary spastic paraplegia 7 MONDO:MONDO:0011803,MedGen:C1846564,OMIM:607259,Orphanet:99013 163 163 1.0000 condition_architecture_interpretable 20 0 55 Hereditary_spastic_paraplegia_7 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPS3 condition_not_provided condition not provided MedGen:C3661900 163 163 1.0000 condition_record_support_limited 20 163 75 not_provided 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCD1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 163 163 1.0000 condition_record_support_limited 20 163 112 not_provided|not_specified 512 compact_adjacent_exon_block_opportunity local_compact_architecture WFS1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 162 162 1.0000 condition_record_support_limited 20 162 83 See_cases|not_provided|not_specified 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WAS mondo_mondo_0010518_medgen_c0043194_omim_301000_orphanet_906 Wiskott-Aldrich syndrome MONDO:MONDO:0010518,MedGen:C0043194,OMIM:301000,Orphanet:906 162 162 1.0000 condition_architecture_interpretable 20 0 114 Wiskott-Aldrich_syndrome 206 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 162 162 1.0000 condition_record_support_limited 20 162 49 not_provided|not_specified 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TYR mondo_mondo_0008745_medgen_c4551504_omim_203100_orphanet_352731_orphanet_79431 Oculocutaneous albinism type 1A MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431 161 161 1.0000 condition_architecture_interpretable 20 0 133 Oculocutaneous_albinism_type_1A 311 compact_adjacent_exon_block_opportunity local_compact_architecture LAMB3 mondo_mondo_0009182_medgen_c0079683_omim_226700_orphanet_79404 Junctional epidermolysis bullosa gravis of Herlitz MONDO:MONDO:0009182,MedGen:C0079683,OMIM:226700,Orphanet:79404 161 161 1.0000 condition_architecture_interpretable 20 0 116 Junctional_epidermolysis_bullosa_gravis_of_Herlitz 305 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL3 mondo_mondo_0014205_medgen_c4750837_omim_615485_orphanet_352577 Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome MONDO:MONDO:0014205,MedGen:C4750837,OMIM:615485,Orphanet:352577 161 161 1.0000 condition_architecture_interpretable 20 0 40 Severe_feeding_difficulties-failure_to_thrive-microcephaly_due_to_ASXL3_deficiency_syndrome 234 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AR mondo_mondo_0010735_medgen_c1839259_omim_313200_orphanet_481 Kennedy disease MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481 161 161 1.0000 condition_architecture_interpretable 20 0 161 Kennedy_disease 365 compact_adjacent_exon_block_opportunity local_compact_architecture ADA mondo_mondo_0007064_medgen_c0392607_omim_102700_orphanet_277 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency MONDO:MONDO:0007064,MedGen:C0392607,OMIM:102700,Orphanet:277 161 161 1.0000 condition_architecture_interpretable 20 0 40 Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A6 mondo_mondo_0000902_medgen_c0795950_omim_218000_orphanet_1496 Agenesis of the corpus callosum with peripheral neuropathy MONDO:MONDO:0000902,MedGen:C0795950,OMIM:218000,Orphanet:1496 160 160 1.0000 condition_architecture_interpretable 20 0 46 Agenesis_of_the_corpus_callosum_with_peripheral_neuropathy 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RARS2 condition_not_provided condition not provided MedGen:C3661900 160 160 1.0000 condition_record_support_limited 20 160 95 not_provided 242 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRBA mondo_mondo_0013863_medgen_c3553512_omim_614700_orphanet_445018 Combined immunodeficiency due to LRBA deficiency MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700,Orphanet:445018 160 160 1.0000 condition_architecture_interpretable 20 0 16 Combined_immunodeficiency_due_to_LRBA_deficiency 186 large_gene_or_donor_burden_stress_case donor_burden_stress IDUA mondo_mondo_0011758_medgen_c0086795_omim_607014_orphanet_93473 Hurler syndrome MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014,Orphanet:93473 160 160 1.0000 condition_architecture_interpretable 20 0 135 Hurler_syndrome 419 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FRAS1 mondo_mondo_0054737_medgen_c4551480_omim_219000_orphanet_2052 Fraser syndrome 1 MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052 160 160 1.0000 condition_architecture_interpretable 20 0 62 Fraser_syndrome_1 315 large_gene_or_donor_burden_stress_case donor_burden_stress FGFR1 mondo_mondo_0007844_medgen_c1563720_omim_147950_orphanet_478 Hypogonadotropic hypogonadism 2 with or without anosmia MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478 160 160 1.0000 condition_architecture_interpretable 20 0 82 Hypogonadotropic_hypogonadism_2_with_or_without_anosmia 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL7A1 mondo_mondo_0011852_medgen_c1843761_omim_607523 Nonsyndromic congenital nail disorder 8 MONDO:MONDO:0011852,MedGen:C1843761,OMIM:607523 160 160 1.0000 condition_architecture_interpretable 20 0 160 Nonsyndromic_congenital_nail_disorder_8 1079 large_gene_or_donor_burden_stress_case donor_burden_stress CDH1 mondo_mondo_0100488_medgen_cn311521 CDH1-related diffuse gastric and lobular breast cancer syndrome MONDO:MONDO:0100488,MedGen:CN311521 160 160 1.0000 condition_architecture_interpretable 20 0 156 CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome 622 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BBS10 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 160 160 1.0000 condition_architecture_interpretable 20 0 95 Bardet-Biedl_syndrome 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA12 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 160 160 1.0000 condition_record_support_limited 20 160 32 See_cases|not_provided 206 large_gene_or_donor_burden_stress_case donor_burden_stress RPGR mondo_mondo_0100437_medgen_cn305589 RPGR-related retinopathy MONDO:MONDO:0100437,MedGen:CN305589 159 159 1.0000 condition_architecture_interpretable 20 0 126 RPGR-related_retinopathy 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTOF mondo_mondo_0010986_medgen_c1832828_omim_601071_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 9 MONDO:MONDO:0010986,MedGen:C1832828,OMIM:601071,Orphanet:90636 159 159 1.0000 condition_architecture_interpretable 20 0 64 Autosomal_recessive_nonsyndromic_hearing_loss_9 355 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NBN human_phenotype_ontology_hp_0001915_mondo_mondo_0015909_medgen_c0002874_omim_609135_orphanet_182040_orphanet_88 Aplastic anemia Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88 159 159 1.0000 condition_architecture_interpretable 20 0 135 Aplastic_anemia 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CYBB mondo_mondo_0010600_medgen_c1844376_omim_306400_orphanet_379 Granulomatous disease, chronic, X-linked MONDO:MONDO:0010600,MedGen:C1844376,OMIM:306400,Orphanet:379 159 159 1.0000 condition_architecture_interpretable 20 0 44 Granulomatous_disease,_chronic,_X-linked 206 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPLANE1 mondo_mondo_0013824_medgen_c3553264_omim_614615_orphanet_475 Joubert syndrome 17 MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475 159 159 1.0000 condition_architecture_interpretable 20 0 125 Joubert_syndrome_17 343 large_gene_or_donor_burden_stress_case donor_burden_stress CNGB3 mondo_mondo_0009875_medgen_c1849792_omim_262300_orphanet_49382 Achromatopsia 3 MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300,Orphanet:49382 159 159 1.0000 condition_architecture_interpretable 20 0 91 Achromatopsia_3 271 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR45 mondo_mondo_0010476_medgen_c3550973_omim_300894_orphanet_329284 Neurodegeneration with brain iron accumulation 5 MONDO:MONDO:0010476,MedGen:C3550973,OMIM:300894,Orphanet:329284 158 158 1.0000 condition_architecture_interpretable 20 0 35 Neurodegeneration_with_brain_iron_accumulation_5 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRPPRC condition_not_provided condition not provided MedGen:C3661900 158 158 1.0000 condition_record_support_limited 20 158 59 not_provided 332 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLB1 mondo_mondo_0009260_medgen_c0268271_omim_230500_orphanet_354_orphanet_79255 Infantile GM1 gangliosidosis MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500,Orphanet:354,Orphanet:79255 158 158 1.0000 condition_architecture_interpretable 20 0 142 Infantile_GM1_gangliosidosis 322 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENG condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 158 158 1.0000 condition_record_support_limited 20 158 122 See_cases|not_provided|not_specified 607 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A2 mondo_mondo_0009727_medgen_c1850554_omim_256050_orphanet_56304 Atelosteogenesis type II MONDO:MONDO:0009727,MedGen:C1850554,OMIM:256050,Orphanet:56304 157 157 1.0000 condition_architecture_interpretable 20 0 155 Atelosteogenesis_type_II 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKHD1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 157 157 1.0000 condition_record_support_limited 20 157 134 See_cases|not_provided 1558 large_gene_or_donor_burden_stress_case donor_burden_stress LRP5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 157 157 1.0000 condition_record_support_limited 20 157 45 not_provided 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HBA2 mondo_mondo_0011399_medgen_c0002312_omim_604131_orphanet_846 alpha Thalassemia MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846 157 157 1.0000 condition_architecture_interpretable 20 0 51 alpha_Thalassemia 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation FANCI mondo_mondo_0012186_medgen_c1836861_omim_609053_orphanet_84 Fanconi anemia complementation group I MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053,Orphanet:84 157 157 1.0000 condition_architecture_interpretable 20 0 65 Fanconi_anemia_complementation_group_I 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCD2 mondo_mondo_0009214_medgen_c3160738_omim_227646_orphanet_84 Fanconi anemia complementation group D2 MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646,Orphanet:84 157 157 1.0000 condition_architecture_interpretable 20 0 68 Fanconi_anemia_complementation_group_D2 279 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL7A1 mondo_mondo_0007557_medgen_c0268371_omim_132000 Dominant dystrophic epidermolysis bullosa with absence of skin MONDO:MONDO:0007557,MedGen:C0268371,OMIM:132000 157 157 1.0000 condition_architecture_interpretable 20 0 157 Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin 1079 large_gene_or_donor_burden_stress_case donor_burden_stress TTN mondo_mondo_0011362_medgen_c1863599_omim_603689_orphanet_178464_orphanet_34521 Myopathy, myofibrillar, 9, with early respiratory failure MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521 156 156 1.0000 condition_architecture_interpretable 20 0 151 Myopathy,_myofibrillar,_9,_with_early_respiratory_failure 5807 large_gene_or_donor_burden_stress_case donor_burden_stress SMARCAL1 mondo_mondo_0009458_medgen_c0877024_omim_242900_orphanet_1830 Schimke immuno-osseous dysplasia MONDO:MONDO:0009458,MedGen:C0877024,OMIM:242900,Orphanet:1830 156 156 1.0000 condition_architecture_interpretable 20 0 13 Schimke_immuno-osseous_dysplasia 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPF31 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 156 156 1.0000 condition_record_support_limited 20 156 55 See_cases|not_provided 261 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 Congenital long QT syndrome MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 156 156 1.0000 condition_architecture_interpretable 20 0 155 Congenital_long_QT_syndrome 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAH11 mondo_mondo_0012748_medgen_c2678473_omim_611884_orphanet_244 Primary ciliary dyskinesia 7 MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244 156 156 1.0000 condition_architecture_interpretable 20 0 87 Primary_ciliary_dyskinesia_7 574 large_gene_or_donor_burden_stress_case donor_burden_stress CHEK2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 156 156 1.0000 condition_record_support_limited 20 156 143 not_provided|not_specified 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TPP1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 155 155 1.0000 condition_record_support_limited 20 155 83 not_provided 221 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC7A7 mondo_mondo_0009109_medgen_c0268647_omim_222700_orphanet_470 Lysinuric protein intolerance MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700,Orphanet:470 155 155 1.0000 condition_architecture_interpretable 20 0 8 Lysinuric_protein_intolerance 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SKIC3 condition_not_provided condition not provided MedGen:C3661900 155 155 1.0000 condition_record_support_limited 20 155 27 not_provided 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HADHA mondo_mondo_0012172_medgen_c1969443_omim_ps609015_orphanet_746 Mitochondrial trifunctional protein deficiency MONDO:MONDO:0012172,MedGen:C1969443,OMIM:PS609015,Orphanet:746 155 155 1.0000 condition_architecture_interpretable 20 0 152 Mitochondrial_trifunctional_protein_deficiency 238 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 mondo_mondo_0018993_medgen_c0270914_orphanet_64746 Charcot-Marie-Tooth disease type 2 MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746 154 154 1.0000 condition_architecture_interpretable 20 0 77 Charcot-Marie-Tooth_disease_type_2 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 mondo_mondo_0007365_medgen_c3149074_omim_121200_orphanet_1949 Seizures, benign familial neonatal, 1 MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200,Orphanet:1949 154 154 1.0000 condition_architecture_interpretable 20 0 115 Seizures,_benign_familial_neonatal,_1 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELN human_phenotype_ontology_hp_0004381_mondo_mondo_0008504_medgen_c0003499_omim_185500_orphanet_3193 Supravalvar aortic stenosis Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193 154 154 1.0000 condition_architecture_interpretable 20 0 22 Supravalvar_aortic_stenosis 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP290 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 154 154 1.0000 condition_record_support_limited 20 154 137 See_cases|not_provided|not_specified 949 large_gene_or_donor_burden_stress_case donor_burden_stress ADAMTSL4 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 154 154 1.0000 condition_record_support_limited 20 154 21 See_cases|not_provided 166 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TET2 condition_not_provided condition not provided MedGen:C3661900 153 153 1.0000 condition_record_support_limited 20 153 5 not_provided 178 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SMC1A mondo_mondo_0010370_medgen_c1802395_omim_300590_orphanet_199 Congenital muscular hypertrophy-cerebral syndrome MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590,Orphanet:199 153 153 1.0000 condition_architecture_interpretable 20 0 40 Congenital_muscular_hypertrophy-cerebral_syndrome 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTCH1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 153 153 1.0000 condition_architecture_interpretable 20 0 70 Hereditary_cancer-predisposing_syndrome 736 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POT1 mondo_mondo_0014368_medgen_c4014476_omim_615848_orphanet_618 Tumor predisposition syndrome 3 MONDO:MONDO:0014368,MedGen:C4014476,OMIM:615848,Orphanet:618 153 153 1.0000 condition_architecture_interpretable 20 0 57 Tumor_predisposition_syndrome_3 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JAG1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 153 153 1.0000 condition_record_support_limited 20 153 53 not_provided|not_specified 461 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IQSEC2 gene_170530_mondo_mondo_0010656_medgen_c2931498_omim_309530_orphanet_777 Intellectual disability, X-linked 1 Gene:170530,MONDO:MONDO:0010656,MedGen:C2931498,OMIM:309530,Orphanet:777 153 153 1.0000 condition_architecture_interpretable 20 0 23 Intellectual_disability,_X-linked_1 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DST mondo_mondo_0014180_medgen_c3809470_omim_615425_orphanet_412181 Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181 153 153 1.0000 condition_architecture_interpretable 20 0 150 Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency 196 large_gene_or_donor_burden_stress_case donor_burden_stress DNAI1 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 153 153 1.0000 condition_architecture_interpretable 20 0 35 Primary_ciliary_dyskinesia 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS1 mondo_mondo_0008854_medgen_c2936862_omim_209900 Bardet-Biedl syndrome 1 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 153 153 1.0000 condition_architecture_interpretable 20 0 89 Bardet-Biedl_syndrome_1 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SZT2 condition_not_provided condition not provided MedGen:C3661900 152 152 1.0000 condition_record_support_limited 20 152 25 not_provided 188 large_gene_or_donor_burden_stress_case donor_burden_stress STXBP1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 152 152 1.0000 condition_record_support_limited 20 152 66 not_provided|not_specified 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD3 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 152 152 1.0000 condition_architecture_interpretable 20 0 49 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 152 152 1.0000 condition_record_support_limited 20 152 84 not_provided|not_specified 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNA1 condition_not_provided condition not provided MedGen:C3661900 152 152 1.0000 condition_record_support_limited 20 152 64 not_provided 233 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 152 152 1.0000 condition_record_support_limited 20 152 70 not_provided|not_specified 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF469 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 151 151 1.0000 condition_record_support_limited 20 151 15 not_provided 197 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NEXMIF condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 151 151 1.0000 condition_record_support_limited 20 151 19 not_provided|not_specified 218 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLNA mondo_mondo_0010571_medgen_c1844696_omim_304120_orphanet_669_orphanet_90652 Oto-palato-digital syndrome, type II MONDO:MONDO:0010571,MedGen:C1844696,OMIM:304120,Orphanet:669,Orphanet:90652 151 151 1.0000 condition_architecture_interpretable 20 0 147 Oto-palato-digital_syndrome,_type_II 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL11A2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 151 151 1.0000 condition_record_support_limited 20 151 25 See_cases|not_provided 197 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 mondo_mondo_0007932_medgen_c3495438_omim_153800 Age related macular degeneration 2 MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800 151 151 1.0000 condition_architecture_interpretable 20 0 148 Age_related_macular_degeneration_2 1464 large_gene_or_donor_burden_stress_case donor_burden_stress RPGRIP1 mondo_mondo_0013446_medgen_c1854260_omim_613826_orphanet_65 Leber congenital amaurosis 6 MONDO:MONDO:0013446,MedGen:C1854260,OMIM:613826,Orphanet:65 150 150 1.0000 condition_architecture_interpretable 20 0 127 Leber_congenital_amaurosis_6 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD1 pkd1_related_disorder PKD1-related disorder . 150 150 1.0000 condition_architecture_interpretable 20 0 97 PKD1-related_disorder 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KCNH2 mondo_mondo_0013367_medgen_c3150943_omim_613688_orphanet_101016_orphanet_768 Long QT syndrome 2 MONDO:MONDO:0013367,MedGen:C3150943,OMIM:613688,Orphanet:101016,Orphanet:768 150 150 1.0000 condition_architecture_interpretable 20 0 90 Long_QT_syndrome_2 720 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLNA mondo_mondo_0010650_medgen_c0025237_omim_309350_orphanet_2484 Melnick-Needles syndrome MONDO:MONDO:0010650,MedGen:C0025237,OMIM:309350,Orphanet:2484 150 150 1.0000 condition_architecture_interpretable 20 0 147 Melnick-Needles_syndrome 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CCNH mondo_mondo_0012016_medgen_c1842180_omim_ps608354_orphanet_137667 Capillary malformation-arteriovenous malformation syndrome MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667 150 150 1.0000 condition_architecture_interpretable 20 0 40 Capillary_malformation-arteriovenous_malformation_syndrome 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS2 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 150 150 1.0000 condition_architecture_interpretable 20 0 90 Bardet-Biedl_syndrome 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APC mondo_mondo_0021055_medgen_c0032580_omim_ps175100_orphanet_733 Familial multiple polyposis syndrome MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100,Orphanet:733 150 150 1.0000 condition_architecture_interpretable 20 0 125 Familial_multiple_polyposis_syndrome 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control OAT mondo_mondo_0009796_medgen_c0018425_omim_258870_orphanet_414 Ornithine aminotransferase deficiency MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414 149 149 1.0000 condition_architecture_interpretable 20 0 24 Ornithine_aminotransferase_deficiency 150 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 mondo_mondo_0011436_medgen_c1858517_omim_604320_orphanet_98920 Autosomal recessive distal spinal muscular atrophy 1 MONDO:MONDO:0011436,MedGen:C1858517,OMIM:604320,Orphanet:98920 149 149 1.0000 condition_architecture_interpretable 20 0 136 Autosomal_recessive_distal_spinal_muscular_atrophy_1 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCKDHA mondo_mondo_0009563_mesh_d008375_medgen_c0024776_omim_ps248600_orphanet_511 Maple syrup urine disease MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511 149 149 1.0000 condition_architecture_interpretable 20 0 71 Maple_syrup_urine_disease 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC17A5 mondo_mondo_0011449_medgen_c1096903_omim_604369_orphanet_309334_orphanet_834 Salla disease MONDO:MONDO:0011449,MedGen:C1096903,OMIM:604369,Orphanet:309334,Orphanet:834 148 148 1.0000 condition_architecture_interpretable 20 0 62 Salla_disease 154 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHB mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 148 148 1.0000 condition_architecture_interpretable 20 0 118 Hereditary_cancer-predisposing_syndrome 280 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control DNAH8 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 148 148 1.0000 condition_architecture_interpretable 20 0 10 Primary_ciliary_dyskinesia 156 large_gene_or_donor_burden_stress_case donor_burden_stress BRCA2 breast_and_or_ovarian_cancer Breast and/or ovarian cancer MedGen:CN221562 148 148 1.0000 condition_architecture_interpretable 20 0 141 Breast_and/or_ovarian_cancer 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ALG6 mondo_mondo_0011291_medgen_c2930997_omim_603147_orphanet_79320 ALG6-congenital disorder of glycosylation 1C MONDO:MONDO:0011291,MedGen:C2930997,OMIM:603147,Orphanet:79320 148 148 1.0000 condition_architecture_interpretable 20 0 8 ALG6-congenital_disorder_of_glycosylation_1C 149 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RUNX1 mondo_mondo_0100083_mesh_c563324_medgen_c1832388_omim_601399_orphanet_71290 Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 MONDO:MONDO:0100083,MeSH:C563324,MedGen:C1832388,OMIM:601399,Orphanet:71290 147 147 1.0000 condition_architecture_interpretable 20 0 138 Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMS2 mondo_mondo_0005835_medgen_c4552100_orphanet_144 Lynch syndrome MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144 147 147 1.0000 condition_architecture_interpretable 20 0 129 Lynch_syndrome 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ITGB3 mondo_mondo_0100326_medgen_c0040015_omim_ps273800_orphanet_849 Glanzmann thrombasthenia MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:849 147 147 1.0000 condition_architecture_interpretable 20 0 62 Glanzmann_thrombasthenia 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLCN condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 147 147 1.0000 condition_record_support_limited 20 147 124 not_provided|not_specified 425 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BMPR2 medgen_c0152171 Primary pulmonary hypertension MedGen:C0152171 147 147 1.0000 condition_architecture_interpretable 20 0 78 Primary_pulmonary_hypertension 502 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 Meckel-Gruber syndrome MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 146 146 1.0000 condition_architecture_interpretable 20 0 146 Meckel-Gruber_syndrome 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 146 146 1.0000 condition_architecture_interpretable 20 0 146 Joubert_syndrome 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RHO condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 146 146 1.0000 condition_record_support_limited 20 146 92 not_provided|not_specified 198 compact_adjacent_exon_block_opportunity local_compact_architecture POMGNT1 mondo_mondo_0013155_medgen_c3150412_omim_613151 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 MONDO:MONDO:0013155,MedGen:C3150412,OMIM:613151 146 146 1.0000 condition_architecture_interpretable 20 0 146 Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMGNT1 mondo_mondo_0013161_medgen_c3150417_omim_613157_orphanet_206564 Autosomal recessive limb-girdle muscular dystrophy type 2O MONDO:MONDO:0013161,MedGen:C3150417,OMIM:613157,Orphanet:206564 146 146 1.0000 condition_architecture_interpretable 20 0 146 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPI mondo_mondo_0011257_medgen_c1865145_omim_602579_orphanet_79319 MPI-congenital disorder of glycosylation MONDO:MONDO:0011257,MedGen:C1865145,OMIM:602579,Orphanet:79319 146 146 1.0000 condition_architecture_interpretable 20 0 3 MPI-congenital_disorder_of_glycosylation 147 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCG mondo_mondo_0013565_medgen_c3469527_omim_614082_orphanet_84 Fanconi anemia complementation group G MONDO:MONDO:0013565,MedGen:C3469527,OMIM:614082,Orphanet:84 146 146 1.0000 condition_architecture_interpretable 20 0 74 Fanconi_anemia_complementation_group_G 213 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTN human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 145 145 1.0000 condition_architecture_interpretable 20 0 98 Cardiomyopathy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress RPE65 mondo_mondo_0100368_medgen_cn305526 RPE65-related recessive retinopathy MONDO:MONDO:0100368,MedGen:CN305526 145 145 1.0000 condition_architecture_interpretable 20 0 128 RPE65-related_recessive_retinopathy 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRIT1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 145 145 1.0000 condition_record_support_limited 20 145 83 See_cases|not_provided|not_specified 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA2 mondo_mondo_0042982_medgen_cn300066 GATA2 deficiency with susceptibility to MDS/AML MONDO:MONDO:0042982,MedGen:CN300066 145 145 1.0000 condition_architecture_interpretable 20 0 145 GATA2_deficiency_with_susceptibility_to_MDS/AML 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP mondo_mondo_0000171_medgen_c0265221_omim_ps236670_orphanet_899 Walker-Warburg congenital muscular dystrophy MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899 145 145 1.0000 condition_architecture_interpretable 20 0 77 Walker-Warburg_congenital_muscular_dystrophy 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A1 mondo_mondo_0024530_medgen_cn029274_omim_158810_orphanet_610 Bethlem myopathy 1A MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610 145 145 1.0000 condition_architecture_interpretable 20 0 63 Bethlem_myopathy_1A 194 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS1 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 145 145 1.0000 condition_architecture_interpretable 20 0 91 Bardet-Biedl_syndrome 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO5 mondo_mondo_0012652_medgen_c1969785_omim_611307_orphanet_206549 Autosomal recessive limb-girdle muscular dystrophy type 2L MONDO:MONDO:0012652,MedGen:C1969785,OMIM:611307,Orphanet:206549 145 145 1.0000 condition_architecture_interpretable 20 0 138 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RYR1 mondo_mondo_0007783_medgen_c2930980_omim_145600_orphanet_423 Malignant hyperthermia, susceptibility to, 1 MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423 144 144 1.0000 condition_architecture_interpretable 20 0 136 Malignant_hyperthermia,_susceptibility_to,_1 770 large_gene_or_donor_burden_stress_case donor_burden_stress NF1 mondo_mondo_0011035_medgen_c2931482_omim_601321_orphanet_638 Neurofibromatosis-Noonan syndrome MONDO:MONDO:0011035,MedGen:C2931482,OMIM:601321,Orphanet:638 144 144 1.0000 condition_architecture_interpretable 20 0 137 Neurofibromatosis-Noonan_syndrome 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control LRP2 condition_not_provided condition not provided MedGen:C3661900 144 144 1.0000 condition_record_support_limited 20 144 20 not_provided 205 large_gene_or_donor_burden_stress_case donor_burden_stress FLNA mondo_mondo_0015942_medgen_c0265293_omim_ps305620_orphanet_1826 Frontometaphyseal dysplasia MONDO:MONDO:0015942,MedGen:C0265293,OMIM:PS305620,Orphanet:1826 144 144 1.0000 condition_architecture_interpretable 20 0 144 Frontometaphyseal_dysplasia 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture XPC condition_not_provided condition not provided MedGen:C3661900 143 143 1.0000 condition_record_support_limited 20 143 72 not_provided 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FH human_phenotype_ontology_hp_0007437_mondo_mondo_0007888_medgen_c1708350_omim_150800_orphanet_523 Hereditary leiomyomatosis and renal cell cancer Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523 143 143 1.0000 condition_architecture_interpretable 20 0 116 Hereditary_leiomyomatosis_and_renal_cell_cancer 482 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SPRED1 mondo_mondo_0012669_medgen_c1969623_omim_611431_orphanet_137605 Legius syndrome MONDO:MONDO:0012669,MedGen:C1969623,OMIM:611431,Orphanet:137605 142 142 1.0000 condition_architecture_interpretable 20 0 29 Legius_syndrome 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYH7 mondo_mondo_0008647_medgen_c3495498_omim_192600 Hypertrophic cardiomyopathy 1 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 142 142 1.0000 condition_architecture_interpretable 20 0 113 Hypertrophic_cardiomyopathy_1 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MPZ mondo_mondo_0019011_medgen_c0751036_orphanet_65753 Charcot-Marie-Tooth disease, type I MONDO:MONDO:0019011,MedGen:C0751036,Orphanet:65753 142 142 1.0000 condition_architecture_interpretable 20 0 104 Charcot-Marie-Tooth_disease,_type_I 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GFM1 mondo_mondo_0012191_medgen_c1836797_omim_609060_orphanet_137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060,Orphanet:137681 142 142 1.0000 condition_architecture_interpretable 20 0 69 Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1 202 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCDC39 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 142 142 1.0000 condition_architecture_interpretable 20 0 34 Primary_ciliary_dyskinesia 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA2 mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 142 142 1.0000 condition_architecture_interpretable 20 0 131 Malignant_tumor_of_breast 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ANO5 mondo_mondo_0008151_medgen_c1833736_omim_166260_orphanet_53697 Gnathodiaphyseal dysplasia MONDO:MONDO:0008151,MedGen:C1833736,OMIM:166260,Orphanet:53697 142 142 1.0000 condition_architecture_interpretable 20 0 138 Gnathodiaphyseal_dysplasia 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RYR1 mondo_mondo_0007294_medgen_c5830701_omim_117000_orphanet_597 Central core myopathy MONDO:MONDO:0007294,MedGen:C5830701,OMIM:117000,Orphanet:597 141 141 1.0000 condition_architecture_interpretable 20 0 116 Central_core_myopathy 770 large_gene_or_donor_burden_stress_case donor_burden_stress RAG1 mondo_mondo_0011086_medgen_c1832322_omim_601457_orphanet_331206 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457,Orphanet:331206 141 141 1.0000 condition_architecture_interpretable 20 0 133 Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD1 human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Polycystic kidney disease Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 141 141 1.0000 condition_architecture_interpretable 20 0 83 Polycystic_kidney_disease 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIAA0586 mondo_mondo_0014664_medgen_c4084822_omim_616490_orphanet_475 Joubert syndrome 23 MONDO:MONDO:0014664,MedGen:C4084822,OMIM:616490,Orphanet:475 141 141 1.0000 condition_architecture_interpretable 20 0 131 Joubert_syndrome_23 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL2RG mondo_mondo_0010315_medgen_c1279481_omim_300400_orphanet_276 X-linked severe combined immunodeficiency MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276 141 141 1.0000 condition_architecture_interpretable 20 0 35 X-linked_severe_combined_immunodeficiency 165 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DPYD mondo_mondo_0010130_medgen_c1959620_omim_274270_orphanet_1675 Dihydropyrimidine dehydrogenase deficiency MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:1675 141 141 1.0000 condition_architecture_interpretable 20 0 18 Dihydropyrimidine_dehydrogenase_deficiency 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASS1 mondo_mondo_0015991_medgen_c0175683_omim_ps215700_orphanet_187 Citrullinemia MONDO:MONDO:0015991,MedGen:C0175683,OMIM:PS215700,Orphanet:187 141 141 1.0000 condition_architecture_interpretable 20 0 91 Citrullinemia 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XPC mondo_mondo_0010211_medgen_c2752147_omim_278720_orphanet_910 Xeroderma pigmentosum, group C MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720,Orphanet:910 140 140 1.0000 condition_architecture_interpretable 20 0 73 Xeroderma_pigmentosum,_group_C 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPP1 mondo_mondo_0008769_medgen_c1876161_omim_204500_orphanet_168491_orphanet_228349_orphanet_79264 Neuronal ceroid lipofuscinosis 2 MONDO:MONDO:0008769,MedGen:C1876161,OMIM:204500,Orphanet:168491,Orphanet:228349,Orphanet:79264 140 140 1.0000 condition_architecture_interpretable 20 0 86 Neuronal_ceroid_lipofuscinosis_2 221 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMGNT1 mondo_mondo_0009667_medgen_c3151519_omim_253280 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 MONDO:MONDO:0009667,MedGen:C3151519,OMIM:253280 140 140 1.0000 condition_architecture_interpretable 20 0 82 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED13L mondo_mondo_0014773_medgen_c5192431_omim_616789_orphanet_369891 Cardiac anomalies - developmental delay - facial dysmorphism syndrome MONDO:MONDO:0014773,MedGen:C5192431,OMIM:616789,Orphanet:369891 140 140 1.0000 condition_architecture_interpretable 20 0 38 Cardiac_anomalies_-_developmental_delay_-_facial_dysmorphism_syndrome 284 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LZTR1 mondo_mondo_0014299_medgen_c3810283_omim_615670_orphanet_93921 LZTR1-related schwannomatosis MONDO:MONDO:0014299,MedGen:C3810283,OMIM:615670,Orphanet:93921 140 140 1.0000 condition_architecture_interpretable 20 0 118 LZTR1-related_schwannomatosis 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 mondo_mondo_0014511_medgen_c4015349_omim_616155_orphanet_443073 Charcot-Marie-Tooth disease axonal type 2S MONDO:MONDO:0014511,MedGen:C4015349,OMIM:616155,Orphanet:443073 140 140 1.0000 condition_architecture_interpretable 20 0 135 Charcot-Marie-Tooth_disease_axonal_type_2S 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2D mondo_mondo_0011143_medgen_c1866293_omim_601777_orphanet_1872 Cone-rod dystrophy 6 MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777,Orphanet:1872 140 140 1.0000 condition_architecture_interpretable 20 0 137 Cone-rod_dystrophy_6 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA1 breast_and_or_ovarian_cancer Breast and/or ovarian cancer MedGen:CN221562 140 140 1.0000 condition_architecture_interpretable 20 0 132 Breast_and/or_ovarian_cancer 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ALDH5A1 mondo_mondo_0010083_medgen_c0268631_omim_271980_orphanet_22 Succinate-semialdehyde dehydrogenase deficiency MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980,Orphanet:22 140 140 1.0000 condition_architecture_interpretable 20 0 26 Succinate-semialdehyde_dehydrogenase_deficiency 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRHPR mondo_mondo_0009824_medgen_c0268165_omim_260000_orphanet_416_orphanet_93599 Primary hyperoxaluria, type II MONDO:MONDO:0009824,MedGen:C0268165,OMIM:260000,Orphanet:416,Orphanet:93599 139 139 1.0000 condition_architecture_interpretable 20 0 50 Primary_hyperoxaluria,_type_II 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EP300 mondo_mondo_0013364_medgen_c3150941_omim_613684_orphanet_353284_orphanet_783 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783 139 139 1.0000 condition_architecture_interpretable 20 0 27 Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency 264 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL2A1 mondo_mondo_0007160_medgen_c2020284_omim_108300_orphanet_828_orphanet_90653 Stickler syndrome type 1 MONDO:MONDO:0007160,MedGen:C2020284,OMIM:108300,Orphanet:828,Orphanet:90653 139 139 1.0000 condition_architecture_interpretable 20 0 83 Stickler_syndrome_type_1 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 Osteogenesis imperfecta MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 139 139 1.0000 condition_architecture_interpretable 20 0 79 Osteogenesis_imperfecta 1430 large_gene_or_donor_burden_stress_case donor_burden_stress CLN3 mondo_mondo_0008767_medgen_c0751383_omim_204200_orphanet_228346 Neuronal ceroid lipofuscinosis 3 MONDO:MONDO:0008767,MedGen:C0751383,OMIM:204200,Orphanet:228346 139 139 1.0000 condition_architecture_interpretable 20 0 78 Neuronal_ceroid_lipofuscinosis_3 220 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGXT condition_not_provided condition not provided .|MedGen:C3661900 139 139 1.0000 condition_record_support_limited 20 139 100 See_cases|not_provided 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A3 mondo_mondo_0024530_medgen_cn029274_omim_158810_orphanet_610 Bethlem myopathy 1A MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610 138 138 1.0000 condition_architecture_interpretable 20 0 50 Bethlem_myopathy_1A 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CFH mondo_mondo_0016244_medgen_c2931788_orphanet_2134 Atypical hemolytic-uremic syndrome MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134 138 138 1.0000 condition_architecture_interpretable 20 0 55 Atypical_hemolytic-uremic_syndrome 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMPR1A mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 138 138 1.0000 condition_architecture_interpretable 20 0 77 Hereditary_cancer-predisposing_syndrome 295 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ALDH3A2 mondo_mondo_0010031_medgen_c0037231_omim_270200_orphanet_816 Sjögren-Larsson syndrome MONDO:MONDO:0010031,MedGen:C0037231,OMIM:270200,Orphanet:816 138 138 1.0000 condition_architecture_interpretable 20 0 57 Sjögren-Larsson_syndrome 178 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VWF mondo_mondo_0010191_medgen_c1264041_omim_277480_orphanet_166096 von Willebrand disease type 3 MONDO:MONDO:0010191,MedGen:C1264041,OMIM:277480,Orphanet:166096 137 137 1.0000 condition_architecture_interpretable 20 0 71 von_Willebrand_disease_type_3 454 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B condition_not_provided condition not provided .|MedGen:C3661900 137 137 1.0000 condition_record_support_limited 20 137 102 See_cases|not_provided 996 large_gene_or_donor_burden_stress_case donor_burden_stress SCN9A mondo_mondo_0024309_medgen_c2752089_omim_201300_orphanet_970 Neuropathy, hereditary sensory and autonomic, type 2A MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970 137 137 1.0000 condition_architecture_interpretable 20 0 134 Neuropathy,_hereditary_sensory_and_autonomic,_type_2A 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 137 137 1.0000 condition_record_support_limited 20 137 60 See_cases|not_provided 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NF1 mondo_mondo_0008672_medgen_c0553586_omim_193520 Café-au-lait macules with pulmonary stenosis MONDO:MONDO:0008672,MedGen:C0553586,OMIM:193520 137 137 1.0000 condition_architecture_interpretable 20 0 131 Café-au-lait_macules_with_pulmonary_stenosis 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control GNAS condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 137 137 1.0000 condition_record_support_limited 20 137 42 See_cases|not_provided|not_specified 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AXIN2 mondo_mondo_0012075_medgen_c1837750_omim_608615_orphanet_300576 Oligodontia-cancer predisposition syndrome MONDO:MONDO:0012075,MedGen:C1837750,OMIM:608615,Orphanet:300576 137 137 1.0000 condition_architecture_interpretable 20 0 45 Oligodontia-cancer_predisposition_syndrome 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RDH12 mondo_mondo_0012990_medgen_c2675186_omim_612712 Leber congenital amaurosis 13 MONDO:MONDO:0012990,MedGen:C2675186,OMIM:612712 136 136 1.0000 condition_architecture_interpretable 20 0 68 Leber_congenital_amaurosis_13 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMAA mondo_mondo_0009613_medgen_c1855109_omim_251100_orphanet_28_orphanet_79310 Methylmalonic aciduria, cblA type MONDO:MONDO:0009613,MedGen:C1855109,OMIM:251100,Orphanet:28,Orphanet:79310 136 136 1.0000 condition_architecture_interpretable 20 0 24 Methylmalonic_aciduria,_cblA_type 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPHN mondo_mondo_0012990_medgen_c2675186_omim_612712 Leber congenital amaurosis 13 MONDO:MONDO:0012990,MedGen:C2675186,OMIM:612712 136 136 1.0000 condition_architecture_interpretable 20 0 68 Leber_congenital_amaurosis_13 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCG mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 Fanconi anemia MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 136 136 1.0000 condition_architecture_interpretable 20 0 76 Fanconi_anemia 213 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F11 mondo_mondo_0012897_mesh_d005173_medgen_c0015523_omim_612416_orphanet_329 Hereditary factor XI deficiency disease MONDO:MONDO:0012897,MeSH:D005173,MedGen:C0015523,OMIM:612416,Orphanet:329 136 136 1.0000 condition_architecture_interpretable 20 0 76 Hereditary_factor_XI_deficiency_disease 216 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC2 mondo_mondo_0012553_medgen_c1853102_omim_610756 Cerebrooculofacioskeletal syndrome 2 MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756 136 136 1.0000 condition_architecture_interpretable 20 0 97 Cerebrooculofacioskeletal_syndrome_2 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLD mondo_mondo_0009529_medgen_c5574660_omim_246900_orphanet_2394_orphanet_765 Pyruvate dehydrogenase E3 deficiency MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765 136 136 1.0000 condition_architecture_interpretable 20 0 7 Pyruvate_dehydrogenase_E3_deficiency 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPS1 mondo_mondo_0014151_medgen_c3714958_omim_615371 Pulmonary hypertension, neonatal, susceptibility to MONDO:MONDO:0014151,MedGen:C3714958,OMIM:615371 136 136 1.0000 condition_architecture_interpretable 20 0 100 Pulmonary_hypertension,_neonatal,_susceptibility_to 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CERKL condition_not_provided condition not provided .|MedGen:C3661900 136 136 1.0000 condition_record_support_limited 20 136 77 See_cases|not_provided 202 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDOB human_phenotype_ontology_hp_0005973_mondo_mondo_0009249_medgen_c0016751_omim_229600_orphanet_469 Hereditary fructosuria Human_Phenotype_Ontology:HP:0005973,MONDO:MONDO:0009249,MedGen:C0016751,OMIM:229600,Orphanet:469 136 136 1.0000 condition_architecture_interpretable 20 0 16 Hereditary_fructosuria 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD5 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 135 135 1.0000 condition_record_support_limited 20 135 33 See_cases|not_provided 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINC1 human_phenotype_ontology_hp_0001976_mondo_mondo_0013144_medgen_c0272375_omim_613118_orphanet_82 Hereditary antithrombin deficiency Human_Phenotype_Ontology:HP:0001976,MONDO:MONDO:0013144,MedGen:C0272375,OMIM:613118,Orphanet:82 135 135 1.0000 condition_architecture_interpretable 20 0 25 Hereditary_antithrombin_deficiency 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN8A mondo_mondo_0800491_medgen_c0393706_orphanet_1934 Early-infantile DEE MONDO:MONDO:0800491,MedGen:C0393706,Orphanet:1934 135 135 1.0000 condition_architecture_interpretable 20 0 63 Early-infantile_DEE 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture POMT1 mondo_mondo_0013159_medgen_c5436962_omim_613155 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 MONDO:MONDO:0013159,MedGen:C5436962,OMIM:613155 135 135 1.0000 condition_architecture_interpretable 20 0 132 Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT1 mondo_mondo_0012248_medgen_c1836373_omim_609308_orphanet_86812 Autosomal recessive limb-girdle muscular dystrophy type 2K MONDO:MONDO:0012248,MedGen:C1836373,OMIM:609308,Orphanet:86812 135 135 1.0000 condition_architecture_interpretable 20 0 133 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTRR mondo_mondo_0009354_medgen_c1856057_omim_236270_orphanet_2169_orphanet_622 Methylcobalamin deficiency type cblE MONDO:MONDO:0009354,MedGen:C1856057,OMIM:236270,Orphanet:2169,Orphanet:622 135 135 1.0000 condition_architecture_interpretable 20 0 48 Methylcobalamin_deficiency_type_cblE 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMUT methylmalonic_aciduria_due_to_complete_methylmalonyl_coa_mutase_deficiency Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency . 135 135 1.0000 condition_architecture_interpretable 20 0 118 Methylmalonic_aciduria_due_to_complete_methylmalonyl-CoA_mutase_deficiency 408 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A1 mondo_mondo_0008289_medgen_c4755307_omim_175780_orphanet_2940_orphanet_36383_orphanet_99810 Brain small vessel disease 1 with or without ocular anomalies MONDO:MONDO:0008289,MedGen:C4755307,OMIM:175780,Orphanet:2940,Orphanet:36383,Orphanet:99810 135 135 1.0000 condition_architecture_interpretable 20 0 70 Brain_small_vessel_disease_1_with_or_without_ocular_anomalies 396 large_gene_or_donor_burden_stress_case donor_burden_stress ARG1 mondo_mondo_0008814_medgen_c0268548_omim_207800_orphanet_90 Arginase deficiency MONDO:MONDO:0008814,MedGen:C0268548,OMIM:207800,Orphanet:90 135 135 1.0000 condition_architecture_interpretable 20 0 11 Arginase_deficiency 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPS1 mondo_mondo_0008596_medgen_c0432233_omim_190350_orphanet_77258 Trichorhinophalangeal dysplasia type I MONDO:MONDO:0008596,MedGen:C0432233,OMIM:190350,Orphanet:77258 134 134 1.0000 condition_architecture_interpretable 20 0 100 Trichorhinophalangeal_dysplasia_type_I 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 mondo_mondo_0800491_medgen_c0393706_orphanet_1934 Early-infantile DEE MONDO:MONDO:0800491,MedGen:C0393706,Orphanet:1934 134 134 1.0000 condition_architecture_interpretable 20 0 55 Early-infantile_DEE 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN9A mondo_mondo_0013470_medgen_c2751778_omim_613863_orphanet_36387 Generalized epilepsy with febrile seizures plus, type 7 MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863,Orphanet:36387 134 134 1.0000 condition_architecture_interpretable 20 0 134 Generalized_epilepsy_with_febrile_seizures_plus,_type_7 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PURA mondo_mondo_1060108_medgen_c4015357_omim_616158_orphanet_438213_orphanet_438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome MONDO:MONDO:1060108,MedGen:C4015357,OMIM:616158,Orphanet:438213,Orphanet:438216 134 134 1.0000 condition_architecture_interpretable 20 0 32 PURA-related_severe_neonatal_hypotonia-seizures-encephalopathy_syndrome 218 single_exon_hotspot_opportunity local_compact_architecture OCA2 mondo_mondo_0008746_medgen_c0268495_omim_203200_orphanet_79432 Tyrosinase-positive oculocutaneous albinism MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432 134 134 1.0000 condition_architecture_interpretable 20 0 102 Tyrosinase-positive_oculocutaneous_albinism 309 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO7A mondo_mondo_0011032_medgen_c1832475_omim_601317_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 11 MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317,Orphanet:90635 134 134 1.0000 condition_architecture_interpretable 20 0 131 Autosomal_dominant_nonsyndromic_hearing_loss_11 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIF1A mondo_mondo_0013656_medgen_c5393830_omim_614255_orphanet_662367 Intellectual disability, autosomal dominant 9 MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255,Orphanet:662367 134 134 1.0000 condition_architecture_interpretable 20 0 105 Intellectual_disability,_autosomal_dominant_9 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EYS human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 134 134 1.0000 condition_architecture_interpretable 20 0 99 Retinitis_pigmentosa 1068 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TYR medgen_c2677190_omim_601800 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN MedGen:C2677190,OMIM:601800 133 133 1.0000 condition_architecture_interpretable 20 0 124 SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN 311 compact_adjacent_exon_block_opportunity local_compact_architecture SETD5 mondo_mondo_0014336_medgen_c3810406_omim_615761_orphanet_404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:MONDO:0014336,MedGen:C3810406,OMIM:615761,Orphanet:404440 133 133 1.0000 condition_architecture_interpretable 20 0 31 Intellectual_disability-facial_dysmorphism_syndrome_due_to_SETD5_haploinsufficiency 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RS1 mondo_mondo_0010725_medgen_c3714753_omim_312700_orphanet_792 Juvenile retinoschisis MONDO:MONDO:0010725,MedGen:C3714753,OMIM:312700,Orphanet:792 133 133 1.0000 condition_architecture_interpretable 20 0 86 Juvenile_retinoschisis 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAG1 mondo_mondo_0009306_medgen_c2673536_omim_233650_orphanet_157949 Combined immunodeficiency with skin granulomas MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650,Orphanet:157949 133 133 1.0000 condition_architecture_interpretable 20 0 130 Combined_immunodeficiency_with_skin_granulomas 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture P3H1 mondo_mondo_0012581_medgen_c1970458_omim_610915 Osteogenesis imperfecta type 8 MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915 133 133 1.0000 condition_architecture_interpretable 20 0 19 Osteogenesis_imperfecta_type_8 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBE1 medgen_c1856301 Glycogen storage disease IV, classic hepatic MedGen:C1856301 133 133 1.0000 condition_architecture_interpretable 20 0 133 Glycogen_storage_disease_IV,_classic_hepatic 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUMF1 mondo_mondo_0010088_medgen_c0268263_omim_272200_orphanet_585 Multiple sulfatase deficiency MONDO:MONDO:0010088,MedGen:C0268263,OMIM:272200,Orphanet:585 132 132 1.0000 condition_architecture_interpretable 20 0 13 Multiple_sulfatase_deficiency 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A1 human_phenotype_ontology_hp_0011170_mondo_mondo_0014633_medgen_c0393702_omim_616421_orphanet_1942 Epilepsy with myoclonic atonic seizures Human_Phenotype_Ontology:HP:0011170,MONDO:MONDO:0014633,MedGen:C0393702,OMIM:616421,Orphanet:1942 132 132 1.0000 condition_architecture_interpretable 20 0 28 Epilepsy_with_myoclonic_atonic_seizures 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCE mondo_mondo_0008044_medgen_c1834570_omim_159900_orphanet_36899 Myoclonic dystonia 11 MONDO:MONDO:0008044,MedGen:C1834570,OMIM:159900,Orphanet:36899 132 132 1.0000 condition_architecture_interpretable 20 0 29 Myoclonic_dystonia_11 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 132 132 1.0000 condition_architecture_interpretable 20 0 96 RASopathy 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFSD8 mondo_mondo_0012588_medgen_c1838571_omim_610951_orphanet_168491_orphanet_228366 Neuronal ceroid lipofuscinosis 7 MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951,Orphanet:168491,Orphanet:228366 132 132 1.0000 condition_architecture_interpretable 20 0 51 Neuronal_ceroid_lipofuscinosis_7 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DMD becker_muscular_dystrophy_cardiomyopathy_duchenne_muscular_dystrophy_dystrophin_deficiency Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency . 132 132 1.0000 condition_architecture_interpretable 20 0 96 Becker_muscular_dystrophy,_Cardiomyopathy,_Duchenne_muscular_dystrophy,_Dystrophin_deficiency 2119 large_gene_or_donor_burden_stress_case donor_burden_stress AMT human_phenotype_ontology_hp_0008288_mondo_mondo_0011612_medgen_c0751748_omim_ps605899_orphanet_407 Glycine encephalopathy Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407 132 132 1.0000 condition_architecture_interpretable 20 0 50 Glycine_encephalopathy 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A13 mondo_mondo_0016602_medgen_c1997910_orphanet_247582 Citrin deficiency MONDO:MONDO:0016602,MedGen:C1997910,Orphanet:247582 131 131 1.0000 condition_architecture_interpretable 20 0 71 Citrin_deficiency 213 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN5A cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 131 131 1.0000 condition_architecture_interpretable 20 0 102 Cardiovascular_phenotype 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RPE65 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 131 131 1.0000 condition_architecture_interpretable 20 0 111 Leber_congenital_amaurosis 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSH6 mondo_mondo_0018630_medgen_c1333990_omim_ps120435_orphanet_443909 Hereditary nonpolyposis colon cancer MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:443909 131 131 1.0000 condition_architecture_interpretable 20 0 120 Hereditary_nonpolyposis_colon_cancer 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control KIF1A mondo_mondo_0012476_medgen_c5235139_orphanet_101010 Hereditary spastic paraplegia 30 MONDO:MONDO:0012476,MedGen:C5235139,Orphanet:101010 131 131 1.0000 condition_architecture_interpretable 20 0 104 Hereditary_spastic_paraplegia_30 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture IFT172 mondo_mondo_0014618_medgen_c4225342_omim_616394_orphanet_791 Retinitis pigmentosa 71 MONDO:MONDO:0014618,MedGen:C4225342,OMIM:616394,Orphanet:791 131 131 1.0000 condition_architecture_interpretable 20 0 127 Retinitis_pigmentosa_71 157 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture HNF1A human_phenotype_ontology_hp_0004904_mondo_mondo_0018911_medgen_c0342276_omim_ps125850_orphanet_552 Maturity-onset diabetes of the young Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552 131 131 1.0000 condition_architecture_interpretable 20 0 110 Maturity-onset_diabetes_of_the_young 384 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMBS condition_not_provided condition not provided MedGen:C3661900 131 131 1.0000 condition_record_support_limited 20 131 31 not_provided 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNS mondo_mondo_0100151_medgen_c2931187_omim_219800_orphanet_213_orphanet_411629 Nephropathic cystinosis MONDO:MONDO:0100151,MedGen:C2931187,OMIM:219800,Orphanet:213,Orphanet:411629 131 131 1.0000 condition_architecture_interpretable 20 0 84 Nephropathic_cystinosis 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SKIC2 condition_not_provided condition not provided MedGen:C3661900 130 130 1.0000 condition_record_support_limited 20 130 21 not_provided 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT2 mondo_mondo_0013154_medgen_c3150411_omim_613150_orphanet_588_orphanet_899 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 MONDO:MONDO:0013154,MedGen:C3150411,OMIM:613150,Orphanet:588,Orphanet:899 130 130 1.0000 condition_architecture_interpretable 20 0 110 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A2 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PFKM mondo_mondo_0009295_medgen_c0017926_omim_232800_orphanet_371 Glycogen storage disease, type VII MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371 130 130 1.0000 condition_architecture_interpretable 20 0 6 Glycogen_storage_disease,_type_VII 134 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL27A1 condition_not_provided condition not provided MedGen:C3661900 130 130 1.0000 condition_record_support_limited 20 130 14 not_provided 158 large_gene_or_donor_burden_stress_case donor_burden_stress CEP164 mondo_mondo_0013917_medgen_c3541853_omim_614845_orphanet_3156 Nephronophthisis 15 MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845,Orphanet:3156 130 130 1.0000 condition_architecture_interpretable 20 0 9 Nephronophthisis_15 136 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BTK mondo_mondo_0010421_medgen_c0221026_omim_300755_orphanet_229717_orphanet_47 X-linked agammaglobulinemia MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755,Orphanet:229717,Orphanet:47 130 130 1.0000 condition_architecture_interpretable 20 0 53 X-linked_agammaglobulinemia 348 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKP2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 129 129 1.0000 condition_record_support_limited 20 129 97 not_provided 344 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX6 medgen_c4225267_omim_616617_orphanet_3220 Heimler syndrome 2 MedGen:C4225267,OMIM:616617,Orphanet:3220 129 129 1.0000 condition_architecture_interpretable 20 0 93 Heimler_syndrome_2 301 compact_adjacent_exon_block_opportunity local_compact_architecture PCNT mondo_mondo_0008872_medgen_c0432246_omim_210720_orphanet_2637 Microcephalic osteodysplastic primordial dwarfism type II MONDO:MONDO:0008872,MedGen:C0432246,OMIM:210720,Orphanet:2637 129 129 1.0000 condition_architecture_interpretable 20 0 44 Microcephalic_osteodysplastic_primordial_dwarfism_type_II 350 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH7 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 129 129 1.0000 condition_architecture_interpretable 20 0 122 Cardiovascular_phenotype 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture IFT172 mondo_mondo_0014284_medgen_c3810175_omim_615630_orphanet_474 Short-rib thoracic dysplasia 10 with or without polydactyly MONDO:MONDO:0014284,MedGen:C3810175,OMIM:615630,Orphanet:474 129 129 1.0000 condition_architecture_interpretable 20 0 127 Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly 157 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL1A1 mondo_mondo_0008147_medgen_c0268358_omim_166210_orphanet_216804 Osteogenesis imperfecta, perinatal lethal MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210,Orphanet:216804 129 129 1.0000 condition_architecture_interpretable 20 0 72 Osteogenesis_imperfecta,_perinatal_lethal 1430 large_gene_or_donor_burden_stress_case donor_burden_stress CDH23 mondo_mondo_0010168_medgen_c1568247_omim_276900_orphanet_231169_orphanet_886 Usher syndrome type 1 MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886 129 129 1.0000 condition_architecture_interpretable 20 0 91 Usher_syndrome_type_1 725 large_gene_or_donor_burden_stress_case donor_burden_stress ATP7A mondo_mondo_0010338_medgen_c1845359_omim_300489_orphanet_139557 X-linked distal spinal muscular atrophy type 3 MONDO:MONDO:0010338,MedGen:C1845359,OMIM:300489,Orphanet:139557 129 129 1.0000 condition_architecture_interpretable 20 0 121 X-linked_distal_spinal_muscular_atrophy_type_3 254 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCB mondo_mondo_0011423_medgen_c1858593_omim_604286_orphanet_119 Autosomal recessive limb-girdle muscular dystrophy type 2E MONDO:MONDO:0011423,MedGen:C1858593,OMIM:604286,Orphanet:119 128 128 1.0000 condition_architecture_interpretable 20 0 29 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPING1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 128 128 1.0000 condition_record_support_limited 20 128 31 not_provided 374 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PANK2 mondo_mondo_0009319_medgen_c0018523_omim_234200_orphanet_157850 Pigmentary pallidal degeneration MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200,Orphanet:157850 128 128 1.0000 condition_architecture_interpretable 20 0 31 Pigmentary_pallidal_degeneration 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JAK3 mondo_mondo_0010938_medgen_c1833275_omim_600802_orphanet_35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802,Orphanet:35078 128 128 1.0000 condition_architecture_interpretable 20 0 22 T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLB1 mondo_mondo_0009261_medgen_c0268272_omim_230600_orphanet_354_orphanet_79256 GM1 gangliosidosis type 2 MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600,Orphanet:354,Orphanet:79256 128 128 1.0000 condition_architecture_interpretable 20 0 127 GM1_gangliosidosis_type_2 322 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAM161A condition_not_provided condition not provided MedGen:C3661900 128 128 1.0000 condition_record_support_limited 20 128 52 not_provided 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAH9 condition_not_provided condition not provided MedGen:C3661900 128 128 1.0000 condition_record_support_limited 20 128 21 not_provided 157 large_gene_or_donor_burden_stress_case donor_burden_stress CYP11B1 mondo_mondo_0008729_medgen_c0268292_omim_202010_orphanet_90795 Deficiency of steroid 11-beta-monooxygenase MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795 128 128 1.0000 condition_architecture_interpretable 20 0 74 Deficiency_of_steroid_11-beta-monooxygenase 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL17A1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 128 128 1.0000 condition_record_support_limited 20 128 37 See_cases|not_provided 180 large_gene_or_donor_burden_stress_case donor_burden_stress CERKL mondo_mondo_0012024_medgen_c1842127_omim_608380_orphanet_791 Retinitis pigmentosa 26 MONDO:MONDO:0012024,MedGen:C1842127,OMIM:608380,Orphanet:791 128 128 1.0000 condition_architecture_interpretable 20 0 79 Retinitis_pigmentosa_26 202 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASD1 mondo_mondo_0008044_medgen_c1834570_omim_159900_orphanet_36899 Myoclonic dystonia 11 MONDO:MONDO:0008044,MedGen:C1834570,OMIM:159900,Orphanet:36899 128 128 1.0000 condition_architecture_interpretable 20 0 27 Myoclonic_dystonia_11 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C17ORF107 mondo_mondo_0011600_medgen_c4225413_omim_605809_orphanet_590 Congenital myasthenic syndrome 4A MONDO:MONDO:0011600,MedGen:C4225413,OMIM:605809,Orphanet:590 128 128 1.0000 condition_architecture_interpretable 20 0 52 Congenital_myasthenic_syndrome_4A 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRV1 mondo_mondo_0011558_medgen_c2931213_omim_605472_orphanet_231178_orphanet_886 Usher syndrome type 2C MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886 128 128 1.0000 condition_architecture_interpretable 20 0 71 Usher_syndrome_type_2C 650 large_gene_or_donor_burden_stress_case donor_burden_stress TTR mondo_mondo_0971004_medgen_c2751492_omim_105210_orphanet_85447_orphanet_85451 Amyloidosis, hereditary systemic 1 MONDO:MONDO:0971004,MedGen:C2751492,OMIM:105210,Orphanet:85447,Orphanet:85451 127 127 1.0000 condition_architecture_interpretable 20 0 75 Amyloidosis,_hereditary_systemic_1 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNE mondo_mondo_0010028_medgen_c0342853_omim_269921_orphanet_3166 Sialuria MONDO:MONDO:0010028,MedGen:C0342853,OMIM:269921,Orphanet:3166 127 127 1.0000 condition_architecture_interpretable 20 0 125 Sialuria 223 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GFM1 condition_not_provided condition not provided MedGen:C3661900 127 127 1.0000 condition_record_support_limited 20 127 69 not_provided 202 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DICER1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 127 127 1.0000 condition_record_support_limited 20 127 89 See_cases|not_provided|not_specified 833 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control DBT mondo_mondo_0009563_mesh_d008375_medgen_c0024776_omim_ps248600_orphanet_511 Maple syrup urine disease MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511 127 127 1.0000 condition_architecture_interpretable 20 0 37 Maple_syrup_urine_disease 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA2 brca2_related_disorder BRCA2-related disorder MedGen:CN239275 127 127 1.0000 condition_architecture_interpretable 20 0 125 BRCA2-related_disorder 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATP7A mondo_mondo_0010572_medgen_c0268353_omim_304150_orphanet_198 Cutis laxa, X-linked MONDO:MONDO:0010572,MedGen:C0268353,OMIM:304150,Orphanet:198 127 127 1.0000 condition_architecture_interpretable 20 0 125 Cutis_laxa,_X-linked 254 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 126 126 1.0000 condition_record_support_limited 20 126 64 See_cases|not_provided 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD51D mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 126 126 1.0000 condition_architecture_interpretable 20 0 91 Hereditary_cancer-predisposing_syndrome 245 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PCDH19 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 126 126 1.0000 condition_record_support_limited 20 126 59 See_cases|not_provided 433 compact_adjacent_exon_block_opportunity local_compact_architecture GLB1 mondo_mondo_0009262_medgen_c0268273_omim_230650_orphanet_79257 GM1 gangliosidosis type 3 MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650,Orphanet:79257 126 126 1.0000 condition_architecture_interpretable 20 0 126 GM1_gangliosidosis_type_3 322 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP152 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 126 126 1.0000 condition_record_support_limited 20 126 25 not_provided 142 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATM mondo_mondo_0700270_medgen_cn377759 ATM-related cancer predisposition MONDO:MONDO:0700270,MedGen:CN377759 126 126 1.0000 condition_architecture_interpretable 20 0 115 ATM-related_cancer_predisposition 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SLC4A11 condition_not_provided condition not provided MedGen:C3661900 125 125 1.0000 condition_record_support_limited 20 125 56 not_provided 179 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPL mondo_mondo_0005029_mesh_d013920_medgen_c0040028_orphanet_3318 Essential thrombocythemia MONDO:MONDO:0005029,MeSH:D013920,MedGen:C0040028,Orphanet:3318 125 125 1.0000 condition_architecture_interpretable 20 0 125 Essential_thrombocythemia 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIAA0586 mondo_mondo_0014688_medgen_c4225286_omim_616546_orphanet_397715 Short-rib thoracic dysplasia 14 with polydactyly MONDO:MONDO:0014688,MedGen:C4225286,OMIM:616546,Orphanet:397715 125 125 1.0000 condition_architecture_interpretable 20 0 125 Short-rib_thoracic_dysplasia_14_with_polydactyly 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRB1 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 125 125 1.0000 condition_architecture_interpretable 20 0 99 Leber_congenital_amaurosis 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATR condition_not_provided condition not provided MedGen:C3661900 125 125 1.0000 condition_record_support_limited 20 125 10 not_provided 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ADAMTS2 mondo_mondo_0009161_medgen_c2700425_omim_225410_orphanet_1901 Ehlers-Danlos syndrome, dermatosparaxis type MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410,Orphanet:1901 125 125 1.0000 condition_architecture_interpretable 20 0 5 Ehlers-Danlos_syndrome,_dermatosparaxis_type 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLA2G6 mondo_mondo_0024457_medgen_c0270724_omim_256600_orphanet_35069 Infantile neuroaxonal dystrophy MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600,Orphanet:35069 124 124 1.0000 condition_architecture_interpretable 20 0 74 Infantile_neuroaxonal_dystrophy 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HGSNAT mondo_mondo_0014687_medgen_c4225287_omim_616544_orphanet_791 Retinitis pigmentosa 73 MONDO:MONDO:0014687,MedGen:C4225287,OMIM:616544,Orphanet:791 124 124 1.0000 condition_architecture_interpretable 20 0 120 Retinitis_pigmentosa_73 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CREBBP condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 124 124 1.0000 condition_record_support_limited 20 124 50 See_cases|not_provided|not_specified 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BRCA2 mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 Familial prostate cancer MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 124 124 1.0000 condition_architecture_interpretable 20 0 123 Familial_prostate_cancer 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ACAD9 mondo_mondo_0012624_medgen_c4747517_omim_611126_orphanet_99901 Acyl-CoA dehydrogenase 9 deficiency MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126,Orphanet:99901 124 124 1.0000 condition_architecture_interpretable 20 0 56 Acyl-CoA_dehydrogenase_9_deficiency 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCOLN1 mondo_mondo_0009653_medgen_c0238286_omim_252650_orphanet_578 Mucolipidosis type IV MONDO:MONDO:0009653,MedGen:C0238286,OMIM:252650,Orphanet:578 123 123 1.0000 condition_architecture_interpretable 20 0 31 Mucolipidosis_type_IV 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLDC mondo_mondo_0958179_medgen_cn376801_omim_605899 Glycine encephalopathy 1 MONDO:MONDO:0958179,MedGen:CN376801,OMIM:605899 123 123 1.0000 condition_architecture_interpretable 20 0 100 Glycine_encephalopathy_1 481 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CREBBP mondo_mondo_0019188_medgen_c0035934_omim_ps180849_orphanet_783 Rubinstein-Taybi syndrome MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783 123 123 1.0000 condition_architecture_interpretable 20 0 30 Rubinstein-Taybi_syndrome 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1F condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 123 123 1.0000 condition_record_support_limited 20 123 28 See_cases|not_provided 189 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BEST1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 123 123 1.0000 condition_architecture_interpretable 20 0 95 Retinal_dystrophy 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERT mondo_mondo_0013521_medgen_c3151443_omim_613989 Dyskeratosis congenita, autosomal dominant 2 MONDO:MONDO:0013521,MedGen:C3151443,OMIM:613989 122 122 1.0000 condition_architecture_interpretable 20 0 117 Dyskeratosis_congenita,_autosomal_dominant_2 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SURF1 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 122 122 1.0000 condition_architecture_interpretable 20 0 51 Leigh_syndrome 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG11 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 122 122 1.0000 condition_record_support_limited 20 122 97 See_cases|not_provided 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A human_phenotype_ontology_hp_0007215_mondo_mondo_0008224_medgen_c0238357_omim_170500_orphanet_682 Hyperkalemic periodic paralysis Human_Phenotype_Ontology:HP:0007215,MONDO:MONDO:0008224,MedGen:C0238357,OMIM:170500,Orphanet:682 122 122 1.0000 condition_architecture_interpretable 20 0 71 Hyperkalemic_periodic_paralysis 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture POMT1 mondo_mondo_0000171_medgen_c0265221_omim_ps236670_orphanet_899 Walker-Warburg congenital muscular dystrophy MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899 122 122 1.0000 condition_architecture_interpretable 20 0 121 Walker-Warburg_congenital_muscular_dystrophy 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFKB1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 122 122 1.0000 condition_record_support_limited 20 122 14 not_provided 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPS1 condition_not_provided condition not provided MedGen:C3661900 122 122 1.0000 condition_record_support_limited 20 122 57 not_provided 194 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAREM2 mondo_mondo_0012173_medgen_c3711645_omim_609016_orphanet_5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:MONDO:0012173,MedGen:C3711645,OMIM:609016,Orphanet:5 122 122 1.0000 condition_architecture_interpretable 20 0 85 Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCLRE1C mondo_mondo_0011225_medgen_c1865370_omim_602450_orphanet_275 Severe combined immunodeficiency due to DCLRE1C deficiency MONDO:MONDO:0011225,MedGen:C1865370,OMIM:602450,Orphanet:275 122 122 1.0000 condition_architecture_interpretable 20 0 51 Severe_combined_immunodeficiency_due_to_DCLRE1C_deficiency 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 condition_not_provided condition not provided MedGen:C3661900 122 122 1.0000 condition_record_support_limited 20 122 109 not_provided 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA4 mondo_mondo_0019353_medgen_c0271093_omim_ps248200_orphanet_827 Stargardt disease MONDO:MONDO:0019353,MedGen:C0271093,OMIM:PS248200,Orphanet:827 122 122 1.0000 condition_architecture_interpretable 20 0 121 Stargardt_disease 1464 large_gene_or_donor_burden_stress_case donor_burden_stress USH2A human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 121 121 1.0000 condition_architecture_interpretable 20 0 92 Retinitis_pigmentosa 2100 large_gene_or_donor_burden_stress_case donor_burden_stress TSPAN1 mondo_mondo_0013155_medgen_c3150412_omim_613151 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 MONDO:MONDO:0013155,MedGen:C3150412,OMIM:613151 121 121 1.0000 condition_architecture_interpretable 20 0 121 Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSPAN1 mondo_mondo_0013161_medgen_c3150417_omim_613157_orphanet_206564 Autosomal recessive limb-girdle muscular dystrophy type 2O MONDO:MONDO:0013161,MedGen:C3150417,OMIM:613157,Orphanet:206564 121 121 1.0000 condition_architecture_interpretable 20 0 121 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOD1 mondo_mondo_0007103_medgen_c1862939_omim_105400_orphanet_803 Amyotrophic lateral sclerosis type 1 MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803 121 121 1.0000 condition_architecture_interpretable 20 0 43 Amyotrophic_lateral_sclerosis_type_1 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 121 121 1.0000 condition_record_support_limited 20 121 65 not_provided 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO18B condition_not_provided condition not provided MedGen:C3661900 121 121 1.0000 condition_record_support_limited 20 121 17 not_provided 140 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED23 mondo_mondo_0008814_medgen_c0268548_omim_207800_orphanet_90 Arginase deficiency MONDO:MONDO:0008814,MedGen:C0268548,OMIM:207800,Orphanet:90 121 121 1.0000 condition_architecture_interpretable 20 0 10 Arginase_deficiency 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT3A mondo_mondo_0014382_medgen_c4014545_omim_615879_orphanet_404443 Tatton-Brown-Rahman overgrowth syndrome MONDO:MONDO:0014382,MedGen:C4014545,OMIM:615879,Orphanet:404443 121 121 1.0000 condition_architecture_interpretable 20 0 23 Tatton-Brown-Rahman_overgrowth_syndrome 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN3 mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 Neuronal ceroid lipofuscinosis MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 121 121 1.0000 condition_architecture_interpretable 20 0 75 Neuronal_ceroid_lipofuscinosis 220 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRIP1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 121 121 1.0000 condition_record_support_limited 20 121 110 not_provided|not_specified 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control AHI1 mondo_mondo_0012078_medgen_c1837713_omim_608629_orphanet_220493 Joubert syndrome 3 MONDO:MONDO:0012078,MedGen:C1837713,OMIM:608629,Orphanet:220493 121 121 1.0000 condition_architecture_interpretable 20 0 70 Joubert_syndrome_3 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TYR mondo_mondo_0011749_medgen_c1847024_omim_606952_orphanet_352731_orphanet_352737_orphanet_79434 Oculocutaneous albinism type 1B MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434 120 120 1.0000 condition_architecture_interpretable 20 0 114 Oculocutaneous_albinism_type_1B 311 compact_adjacent_exon_block_opportunity local_compact_architecture TECPR2 mondo_mondo_0014016_medgen_c3542549_omim_615031_orphanet_320385 Hereditary spastic paraplegia 49 MONDO:MONDO:0014016,MedGen:C3542549,OMIM:615031,Orphanet:320385 120 120 1.0000 condition_architecture_interpretable 20 0 8 Hereditary_spastic_paraplegia_49 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLX4 mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 Fanconi anemia MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 120 120 1.0000 condition_architecture_interpretable 20 0 27 Fanconi_anemia 153 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SI condition_not_provided condition not provided MedGen:C3661900 120 120 1.0000 condition_record_support_limited 20 120 33 not_provided 162 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SAMHD1 mondo_mondo_0013059_medgen_c2749659_omim_612952_orphanet_51 Aicardi-Goutieres syndrome 5 MONDO:MONDO:0013059,MedGen:C2749659,OMIM:612952,Orphanet:51 120 120 1.0000 condition_architecture_interpretable 20 0 35 Aicardi-Goutieres_syndrome_5 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RUNX2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 120 120 1.0000 condition_record_support_limited 20 120 18 not_provided 166 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1 mondo_mondo_0011987_medgen_c2750720_omim_608194_orphanet_1872 Cone-rod dystrophy 13 MONDO:MONDO:0011987,MedGen:C2750720,OMIM:608194,Orphanet:1872 120 120 1.0000 condition_architecture_interpretable 20 0 117 Cone-rod_dystrophy_13 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRF1 mondo_mondo_0011337_medgen_c1863727_omim_603553_orphanet_540 Familial hemophagocytic lymphohistiocytosis 2 MONDO:MONDO:0011337,MedGen:C1863727,OMIM:603553,Orphanet:540 120 120 1.0000 condition_architecture_interpretable 20 0 77 Familial_hemophagocytic_lymphohistiocytosis_2 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 120 120 1.0000 condition_record_support_limited 20 120 83 not_provided|not_specified 428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF3 condition_not_provided condition not provided MedGen:C3661900 120 120 1.0000 condition_record_support_limited 20 120 59 not_provided 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAFAH1B1 mondo_mondo_0011830_medgen_c4749301_omim_607432_orphanet_95232 Lissencephaly due to LIS1 mutation MONDO:MONDO:0011830,MedGen:C4749301,OMIM:607432,Orphanet:95232 120 120 1.0000 condition_architecture_interpretable 20 0 33 Lissencephaly_due_to_LIS1_mutation 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MKS1 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 120 120 1.0000 condition_architecture_interpretable 20 0 113 Joubert_syndrome 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM6A mondo_mondo_0010465_medgen_c3275495_omim_300867_orphanet_2322 Kabuki syndrome 2 MONDO:MONDO:0010465,MedGen:C3275495,OMIM:300867,Orphanet:2322 120 120 1.0000 condition_architecture_interpretable 20 0 18 Kabuki_syndrome_2 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 120 120 1.0000 condition_record_support_limited 20 120 31 See_cases|not_provided 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPLANE1 mondo_mondo_0010176_medgen_c2745997_omim_277170_orphanet_2754 Orofaciodigital syndrome type 6 MONDO:MONDO:0010176,MedGen:C2745997,OMIM:277170,Orphanet:2754 120 120 1.0000 condition_architecture_interpretable 20 0 116 Orofaciodigital_syndrome_type_6 343 large_gene_or_donor_burden_stress_case donor_burden_stress BAG3 mondo_mondo_0013479_medgen_c3151293_omim_613881_orphanet_154 Dilated cardiomyopathy 1HH MONDO:MONDO:0013479,MedGen:C3151293,OMIM:613881,Orphanet:154 120 120 1.0000 condition_architecture_interpretable 20 0 108 Dilated_cardiomyopathy_1HH 154 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALPL mondo_mondo_1010168_medgen_c0220743_omim_241510_orphanet_247667_orphanet_436 Childhood hypophosphatasia MONDO:MONDO:1010168,MedGen:C0220743,OMIM:241510,Orphanet:247667,Orphanet:436 120 120 1.0000 condition_architecture_interpretable 20 0 119 Childhood_hypophosphatasia 532 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB11 mondo_mondo_0011559_medgen_c2608083_omim_605479_orphanet_65682_orphanet_99961 Benign recurrent intrahepatic cholestasis type 2 MONDO:MONDO:0011559,MedGen:C2608083,OMIM:605479,Orphanet:65682,Orphanet:99961 120 120 1.0000 condition_architecture_interpretable 20 0 95 Benign_recurrent_intrahepatic_cholestasis_type_2 318 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WFS1 mondo_mondo_0009101_medgen_c4551693_omim_222300_orphanet_3463 Wolfram syndrome 1 MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463 119 119 1.0000 condition_architecture_interpretable 20 0 84 Wolfram_syndrome_1 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WAS mondo_mondo_0010743_medgen_c1839163_omim_313900_orphanet_268322_orphanet_852 Thrombocytopenia 1 MONDO:MONDO:0010743,MedGen:C1839163,OMIM:313900,Orphanet:268322,Orphanet:852 119 119 1.0000 condition_architecture_interpretable 20 0 113 Thrombocytopenia_1 206 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC3A1 human_phenotype_ontology_hp_0003131_mondo_mondo_0009067_medgen_c0010691_omim_220100_orphanet_214 Cystinuria Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214 119 119 1.0000 condition_architecture_interpretable 20 0 17 Cystinuria 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB2 mondo_mondo_0012864_medgen_c2676739_omim_612313_orphanet_251019 Chromosome 2q32-q33 deletion syndrome MONDO:MONDO:0012864,MedGen:C2676739,OMIM:612313,Orphanet:251019 119 119 1.0000 condition_architecture_interpretable 20 0 23 Chromosome_2q32-q33_deletion_syndrome 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHS2 mondo_mondo_0010974_medgen_c1868672_omim_600995_orphanet_656 Nephrotic syndrome, type 2 MONDO:MONDO:0010974,MedGen:C1868672,OMIM:600995,Orphanet:656 119 119 1.0000 condition_architecture_interpretable 20 0 58 Nephrotic_syndrome,_type_2 158 compact_adjacent_exon_block_opportunity local_compact_architecture LIFR condition_not_provided condition not provided MedGen:C3661900 119 119 1.0000 condition_record_support_limited 20 119 35 not_provided 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB1 mondo_mondo_0010549_medgen_c0393808_omim_302800_orphanet_101075 Charcot-Marie-Tooth disease X-linked dominant 1 MONDO:MONDO:0010549,MedGen:C0393808,OMIM:302800,Orphanet:101075 119 119 1.0000 condition_architecture_interpretable 20 0 85 Charcot-Marie-Tooth_disease_X-linked_dominant_1 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUBN mondo_mondo_0009853_medgen_c4551825_omim_ps261100_orphanet_35858 Imerslund-Grasbeck syndrome MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858 119 119 1.0000 condition_architecture_interpretable 20 0 49 Imerslund-Grasbeck_syndrome 206 large_gene_or_donor_burden_stress_case donor_burden_stress BBS12 mondo_mondo_0014440_medgen_c1859570_omim_615989_orphanet_110 Bardet-Biedl syndrome 12 MONDO:MONDO:0014440,MedGen:C1859570,OMIM:615989,Orphanet:110 119 119 1.0000 condition_architecture_interpretable 20 0 64 Bardet-Biedl_syndrome_12 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS12 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 119 119 1.0000 condition_architecture_interpretable 20 0 62 Bardet-Biedl_syndrome 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UNC80 condition_not_provided condition not provided MedGen:C3661900 118 118 1.0000 condition_record_support_limited 20 118 26 not_provided 147 large_gene_or_donor_burden_stress_case donor_burden_stress NPRL3 mondo_mondo_0014925_medgen_c4310708_omim_617118 Epilepsy, familial focal, with variable foci 3 MONDO:MONDO:0014925,MedGen:C4310708,OMIM:617118 118 118 1.0000 condition_architecture_interpretable 20 0 14 Epilepsy,_familial_focal,_with_variable_foci_3 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HBA1 mondo_mondo_0011399_medgen_c0002312_omim_604131_orphanet_846 alpha Thalassemia MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846 118 118 1.0000 condition_architecture_interpretable 20 0 34 alpha_Thalassemia 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation GLE1 condition_not_provided condition not provided MedGen:C3661900 118 118 1.0000 condition_record_support_limited 20 118 31 not_provided 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSP human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 118 118 1.0000 condition_architecture_interpretable 20 0 87 Cardiomyopathy 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CTNS mondo_mondo_0009064_medgen_c2931013_omim_219750_orphanet_213_orphanet_411641 Ocular cystinosis MONDO:MONDO:0009064,MedGen:C2931013,OMIM:219750,Orphanet:213,Orphanet:411641 118 118 1.0000 condition_architecture_interpretable 20 0 114 Ocular_cystinosis 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COMP condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 118 118 1.0000 condition_record_support_limited 20 118 29 See_cases|not_provided|not_specified 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR19 mondo_mondo_0014579_medgen_c4225376_omim_616307_orphanet_3156 Senior-Loken syndrome 8 MONDO:MONDO:0014579,MedGen:C4225376,OMIM:616307,Orphanet:3156 117 117 1.0000 condition_architecture_interpretable 20 0 113 Senior-Loken_syndrome_8 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WAS mondo_mondo_0010294_medgen_c1845987_omim_300299_orphanet_86788 X-linked severe congenital neutropenia MONDO:MONDO:0010294,MedGen:C1845987,OMIM:300299,Orphanet:86788 117 117 1.0000 condition_architecture_interpretable 20 0 113 X-linked_severe_congenital_neutropenia 206 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSPAN1 mondo_mondo_0009667_medgen_c3151519_omim_253280 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 MONDO:MONDO:0009667,MedGen:C3151519,OMIM:253280 117 117 1.0000 condition_architecture_interpretable 20 0 73 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD4 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 117 117 1.0000 condition_architecture_interpretable 20 0 113 Hereditary_cancer-predisposing_syndrome 300 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control POLG condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 117 117 1.0000 condition_record_support_limited 20 117 93 not_provided|not_specified 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6B condition_not_provided condition not provided MedGen:C3661900 117 117 1.0000 condition_record_support_limited 20 117 55 not_provided 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OCA2 medgen_c1856895_omim_227220 SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES MedGen:C1856895,OMIM:227220 117 117 1.0000 condition_architecture_interpretable 20 0 101 SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES 309 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NIPBL condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 117 117 1.0000 condition_record_support_limited 20 117 50 See_cases|not_provided|not_specified 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NF1 mondo_mondo_0008078_medgen_c1834235_omim_162210_orphanet_636 Neurofibromatosis, familial spinal MONDO:MONDO:0008078,MedGen:C1834235,OMIM:162210,Orphanet:636 117 117 1.0000 condition_architecture_interpretable 20 0 114 Neurofibromatosis,_familial_spinal 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control HOGA1 mondo_mondo_0013327_medgen_c3150878_omim_613616_orphanet_416_orphanet_93600 Primary hyperoxaluria type 3 MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600 117 117 1.0000 condition_architecture_interpretable 20 0 52 Primary_hyperoxaluria_type_3 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLNC cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 117 117 1.0000 condition_architecture_interpretable 20 0 69 Cardiovascular_phenotype 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ESCO2 condition_not_provided condition not provided MedGen:C3661900 117 117 1.0000 condition_record_support_limited 20 117 46 not_provided 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA2 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 1 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 117 117 1.0000 condition_architecture_interpretable 20 0 112 Breast-ovarian_cancer,_familial,_susceptibility_to,_1 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control AOPEP mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 Fanconi anemia MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 117 117 1.0000 condition_architecture_interpretable 20 0 69 Fanconi_anemia 191 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB9B human_phenotype_ontology_hp_0003269_mondo_mondo_0010714_medgen_c0205711_omim_312080_orphanet_702 Pelizaeus-Merzbacher disease Human_Phenotype_Ontology:HP:0003269,MONDO:MONDO:0010714,MedGen:C0205711,OMIM:312080,Orphanet:702 116 116 1.0000 condition_architecture_interpretable 20 0 31 Pelizaeus-Merzbacher_disease 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLP1 human_phenotype_ontology_hp_0003269_mondo_mondo_0010714_medgen_c0205711_omim_312080_orphanet_702 Pelizaeus-Merzbacher disease Human_Phenotype_Ontology:HP:0003269,MONDO:MONDO:0010714,MedGen:C0205711,OMIM:312080,Orphanet:702 116 116 1.0000 condition_architecture_interpretable 20 0 31 Pelizaeus-Merzbacher_disease 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHKB mondo_mondo_0009868_medgen_c0543514_omim_261750_orphanet_79240 Glycogen storage disease IXb MONDO:MONDO:0009868,MedGen:C0543514,OMIM:261750,Orphanet:79240 116 116 1.0000 condition_architecture_interpretable 20 0 17 Glycogen_storage_disease_IXb 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSH3 human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Endometrial carcinoma Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 116 116 1.0000 condition_architecture_interpretable 20 0 103 Endometrial_carcinoma 593 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGB4 condition_not_provided condition not provided MedGen:C3661900 116 116 1.0000 condition_record_support_limited 20 116 33 not_provided 160 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CNGB1 condition_not_provided condition not provided MedGen:C3661900 116 116 1.0000 condition_record_support_limited 20 116 51 not_provided 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKN2A mondo_mondo_0018961_medgen_c1512419_orphanet_618 Familial melanoma MONDO:MONDO:0018961,MedGen:C1512419,Orphanet:618 116 116 1.0000 condition_architecture_interpretable 20 0 77 Familial_melanoma 168 compact_adjacent_exon_block_opportunity local_compact_architecture ASNS condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 116 116 1.0000 condition_record_support_limited 20 116 42 not_provided|not_specified 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOX12B mondo_mondo_0009439_medgen_c3888093_omim_242100_orphanet_281122_orphanet_79394 Autosomal recessive congenital ichthyosis 2 MONDO:MONDO:0009439,MedGen:C3888093,OMIM:242100,Orphanet:281122,Orphanet:79394 116 116 1.0000 condition_architecture_interpretable 20 0 24 Autosomal_recessive_congenital_ichthyosis_2 150 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR19 mondo_mondo_0013717_medgen_c3280598_omim_614376_orphanet_474 Asphyxiating thoracic dystrophy 5 MONDO:MONDO:0013717,MedGen:C3280598,OMIM:614376,Orphanet:474 115 115 1.0000 condition_architecture_interpretable 20 0 113 Asphyxiating_thoracic_dystrophy_5 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USH1C condition_not_provided condition not provided MedGen:C3661900 115 115 1.0000 condition_record_support_limited 20 115 62 not_provided 199 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TYMP mondo_mondo_0011283_medgen_c4551995_omim_603041_orphanet_298 Mitochondrial DNA depletion syndrome 1 MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041,Orphanet:298 115 115 1.0000 condition_architecture_interpretable 20 0 48 Mitochondrial_DNA_depletion_syndrome_1 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFR2 mondo_mondo_0011417_medgen_c1858664_omim_604250_orphanet_225123 Hemochromatosis type 3 MONDO:MONDO:0011417,MedGen:C1858664,OMIM:604250,Orphanet:225123 115 115 1.0000 condition_architecture_interpretable 20 0 45 Hemochromatosis_type_3 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX3 mondo_mondo_0008670_medgen_c1847800_omim_193500_orphanet_894 Waardenburg syndrome type 1 MONDO:MONDO:0008670,MedGen:C1847800,OMIM:193500,Orphanet:894 115 115 1.0000 condition_architecture_interpretable 20 0 33 Waardenburg_syndrome_type_1 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MKS1 mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 Meckel-Gruber syndrome MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 115 115 1.0000 condition_architecture_interpretable 20 0 115 Meckel-Gruber_syndrome 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITF mondo_mondo_0008671_medgen_c1860339_omim_193510_orphanet_3440 Waardenburg syndrome type 2A MONDO:MONDO:0008671,MedGen:C1860339,OMIM:193510,Orphanet:3440 115 115 1.0000 condition_architecture_interpretable 20 0 56 Waardenburg_syndrome_type_2A 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAH1 mondo_mondo_0054615_medgen_c4539783_omim_617576 Spermatogenic failure 18 MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576 115 115 1.0000 condition_architecture_interpretable 20 0 108 Spermatogenic_failure_18 139 large_gene_or_donor_burden_stress_case donor_burden_stress CC2D2A mondo_mondo_0012849_medgen_c2676788_omim_612285_orphanet_2318 Joubert syndrome 9 MONDO:MONDO:0012849,MedGen:C2676788,OMIM:612285,Orphanet:2318 115 115 1.0000 condition_architecture_interpretable 20 0 105 Joubert_syndrome_9 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGA human_phenotype_ontology_hp_0012068_mondo_mondo_0008830_medgen_c0268225_omim_208400_orphanet_93 Aspartylglucosaminuria Human_Phenotype_Ontology:HP:0012068,MONDO:MONDO:0008830,MedGen:C0268225,OMIM:208400,Orphanet:93 115 115 1.0000 condition_architecture_interpretable 20 0 13 Aspartylglucosaminuria 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBGCP6 condition_not_provided condition not provided MedGen:C3661900 114 114 1.0000 condition_record_support_limited 20 114 11 not_provided 135 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERT mondo_mondo_0800504_mesh_d054990_medgen_c1800706_orphanet_2032 Idiopathic Pulmonary Fibrosis MONDO:MONDO:0800504,MeSH:D054990,MedGen:C1800706,Orphanet:2032 114 114 1.0000 condition_architecture_interpretable 20 0 114 Idiopathic_Pulmonary_Fibrosis 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGR human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 114 114 1.0000 condition_architecture_interpretable 20 0 68 Retinitis_pigmentosa 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDUA condition_not_provided condition not provided MedGen:C3661900 114 114 1.0000 condition_record_support_limited 20 114 96 not_provided 419 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALK1 mondo_mondo_0009255_medgen_c0268155_omim_230200_orphanet_352_orphanet_79237 Deficiency of galactokinase MONDO:MONDO:0009255,MedGen:C0268155,OMIM:230200,Orphanet:352,Orphanet:79237 114 114 1.0000 condition_architecture_interpretable 20 0 7 Deficiency_of_galactokinase 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAH1 mondo_mondo_0033204_medgen_c4539798_omim_617577 Ciliary dyskinesia, primary, 37 MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577 114 114 1.0000 condition_architecture_interpretable 20 0 108 Ciliary_dyskinesia,_primary,_37 139 large_gene_or_donor_burden_stress_case donor_burden_stress CTNS mondo_mondo_0009066_medgen_c0268626_omim_219900_orphanet_213_orphanet_411634 Juvenile nephropathic cystinosis MONDO:MONDO:0009066,MedGen:C0268626,OMIM:219900,Orphanet:213,Orphanet:411634 114 114 1.0000 condition_architecture_interpretable 20 0 114 Juvenile_nephropathic_cystinosis 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSPP1 mondo_mondo_0014288_medgen_c3810212_omim_615636 Joubert syndrome 21 MONDO:MONDO:0014288,MedGen:C3810212,OMIM:615636 114 114 1.0000 condition_architecture_interpretable 20 0 24 Joubert_syndrome_21 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL1A1 mondo_mondo_0008148_medgen_c0268363_omim_166220_orphanet_216820_orphanet_666 Osteogenesis imperfecta with normal sclerae, dominant form MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220,Orphanet:216820,Orphanet:666 114 114 1.0000 condition_architecture_interpretable 20 0 90 Osteogenesis_imperfecta_with_normal_sclerae,_dominant_form 1430 large_gene_or_donor_burden_stress_case donor_burden_stress BRCA1 mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 114 114 1.0000 condition_architecture_interpretable 20 0 98 Malignant_tumor_of_breast 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 mondo_mondo_0700268_medgen_cn377757 BRCA1-related cancer predisposition MONDO:MONDO:0700268,MedGen:CN377757 114 114 1.0000 condition_architecture_interpretable 20 0 113 BRCA1-related_cancer_predisposition 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ALMS1 condition_not_provided condition not provided .|MedGen:C3661900 114 114 1.0000 condition_record_support_limited 20 114 86 See_cases|not_provided 999 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SLC2A1 mondo_mondo_0011724_medgen_c4551966_omim_606777_orphanet_71277 Encephalopathy due to GLUT1 deficiency MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777,Orphanet:71277 113 113 1.0000 condition_architecture_interpretable 20 0 75 Encephalopathy_due_to_GLUT1_deficiency 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ mondo_mondo_0014606_medgen_c4225351_omim_616364_orphanet_468678 Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome MONDO:MONDO:0014606,MedGen:C4225351,OMIM:616364,Orphanet:468678 113 113 1.0000 condition_architecture_interpretable 20 0 29 Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD1 mondo_mondo_0004691_medgen_c0085413_orphanet_730 Autosomal dominant polycystic kidney disease MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730 113 113 1.0000 condition_architecture_interpretable 20 0 63 Autosomal_dominant_polycystic_kidney_disease 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LAMC2 condition_not_provided condition not provided MedGen:C3661900 113 113 1.0000 condition_record_support_limited 20 113 34 not_provided 223 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPS5 condition_not_provided condition not provided MedGen:C3661900 113 113 1.0000 condition_record_support_limited 20 113 22 not_provided 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DEPDC5 mondo_mondo_0024556_medgen_c4551983_omim_604364 Epilepsy, familial focal, with variable foci 1 MONDO:MONDO:0024556,MedGen:C4551983,OMIM:604364 113 113 1.0000 condition_architecture_interpretable 20 0 49 Epilepsy,_familial_focal,_with_variable_foci_1 382 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTC1 mondo_mondo_0015780_medgen_c0265965_omim_ps127550_orphanet_1775 Dyskeratosis congenita MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775 113 113 1.0000 condition_architecture_interpretable 20 0 35 Dyskeratosis_congenita 136 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA3 mondo_mondo_0009003_medgen_c1857618_omim_216900_orphanet_49382 Achromatopsia 2 MONDO:MONDO:0009003,MedGen:C1857618,OMIM:216900,Orphanet:49382 113 113 1.0000 condition_architecture_interpretable 20 0 68 Achromatopsia_2 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH23 mondo_mondo_0010984_medgen_c1832845_omim_601067_orphanet_231169_orphanet_886 Usher syndrome type 1D MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886 113 113 1.0000 condition_architecture_interpretable 20 0 94 Usher_syndrome_type_1D 725 large_gene_or_donor_burden_stress_case donor_burden_stress ACAN condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 113 113 1.0000 condition_record_support_limited 20 113 20 See_cases|not_provided 203 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ACAD9 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 113 113 1.0000 condition_record_support_limited 20 113 56 not_provided 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD4 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 112 112 1.0000 condition_architecture_interpretable 20 0 111 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 300 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD50 mondo_mondo_0013118_medgen_c2751318_omim_613078_orphanet_240760 Nijmegen breakage syndrome-like disorder MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760 112 112 1.0000 condition_architecture_interpretable 20 0 96 Nijmegen_breakage_syndrome-like_disorder 483 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCDH15 mondo_mondo_0010984_medgen_c1832845_omim_601067_orphanet_231169_orphanet_886 Usher syndrome type 1D MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886 112 112 1.0000 condition_architecture_interpretable 20 0 69 Usher_syndrome_type_1D 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LDLR mondo_mondo_0018328_medgen_c0342881_orphanet_391665 Homozygous familial hypercholesterolemia MONDO:MONDO:0018328,MedGen:C0342881,Orphanet:391665 112 112 1.0000 condition_architecture_interpretable 20 0 107 Homozygous_familial_hypercholesterolemia 1933 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMP2 mondo_mondo_0010281_medgen_c0878677_omim_300257_orphanet_34587 Danon disease MONDO:MONDO:0010281,MedGen:C0878677,OMIM:300257,Orphanet:34587 112 112 1.0000 condition_architecture_interpretable 20 0 31 Danon_disease 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT140 mondo_mondo_0054708_medgen_c4540439_omim_617781 Retinitis pigmentosa 80 MONDO:MONDO:0054708,MedGen:C4540439,OMIM:617781 112 112 1.0000 condition_architecture_interpretable 20 0 99 Retinitis_pigmentosa_80 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAG2 mondo_mondo_0009306_medgen_c2673536_omim_233650_orphanet_157949 Combined immunodeficiency with skin granulomas MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650,Orphanet:157949 111 111 1.0000 condition_architecture_interpretable 20 0 100 Combined_immunodeficiency_with_skin_granulomas 147 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT2 mondo_mondo_0013160_medgen_c3150416_omim_613156 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 MONDO:MONDO:0013160,MedGen:C3150416,OMIM:613156 111 111 1.0000 condition_architecture_interpretable 20 0 108 Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B2 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX12 mondo_mondo_0013927_medgen_c3553929_omim_614859_orphanet_912 Peroxisome biogenesis disorder 3A (Zellweger) MONDO:MONDO:0013927,MedGen:C3553929,OMIM:614859,Orphanet:912 111 111 1.0000 condition_architecture_interpretable 20 0 50 Peroxisome_biogenesis_disorder_3A_(Zellweger) 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAGS mondo_mondo_0009377_medgen_c0268543_omim_237310_orphanet_927 Hyperammonemia, type III MONDO:MONDO:0009377,MedGen:C0268543,OMIM:237310,Orphanet:927 111 111 1.0000 condition_architecture_interpretable 20 0 7 Hyperammonemia,_type_III 113 compact_adjacent_exon_block_opportunity local_compact_architecture KCNH2 mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 Congenital long QT syndrome MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 111 111 1.0000 condition_architecture_interpretable 20 0 102 Congenital_long_QT_syndrome 720 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXL2 mondo_mondo_0007201_medgen_c0220663_omim_110100_orphanet_126 Blepharophimosis, ptosis, and epicanthus inversus syndrome MONDO:MONDO:0007201,MedGen:C0220663,OMIM:110100,Orphanet:126 111 111 1.0000 condition_architecture_interpretable 20 0 24 Blepharophimosis,_ptosis,_and_epicanthus_inversus_syndrome 174 single_exon_hotspot_opportunity local_compact_architecture FOXC1 mondo_mondo_0011233_medgen_c2678503_omim_602482_orphanet_782 Axenfeld-Rieger syndrome type 3 MONDO:MONDO:0011233,MedGen:C2678503,OMIM:602482,Orphanet:782 111 111 1.0000 condition_architecture_interpretable 20 0 24 Axenfeld-Rieger_syndrome_type_3 150 single_exon_hotspot_opportunity local_compact_architecture F9 mondo_mondo_0010432_medgen_c2749016_omim_300807 Thrombophilia, X-linked, due to factor 9 defect MONDO:MONDO:0010432,MedGen:C2749016,OMIM:300807 111 111 1.0000 condition_architecture_interpretable 20 0 111 Thrombophilia,_X-linked,_due_to_factor_9_defect 299 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F11 condition_not_provided condition not provided MedGen:C3661900 111 111 1.0000 condition_record_support_limited 20 111 75 not_provided 216 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP11B1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 111 111 1.0000 condition_record_support_limited 20 111 59 not_provided 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG1 mondo_mondo_0012052_medgen_c2931005_omim_608540_orphanet_79327 ALG1-congenital disorder of glycosylation MONDO:MONDO:0012052,MedGen:C2931005,OMIM:608540,Orphanet:79327 111 111 1.0000 condition_architecture_interpretable 20 0 26 ALG1-congenital_disorder_of_glycosylation 120 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTTP human_phenotype_ontology_hp_0008181_mondo_mondo_0008692_medgen_c0000744_omim_200100_orphanet_14 Abetalipoproteinaemia Human_Phenotype_Ontology:HP:0008181,MONDO:MONDO:0008692,MedGen:C0000744,OMIM:200100,Orphanet:14 110 110 1.0000 condition_architecture_interpretable 20 0 34 Abetalipoproteinaemia 179 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSH2 mondo_mondo_0018630_medgen_c1333990_omim_ps120435_orphanet_443909 Hereditary nonpolyposis colon cancer MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:443909 110 110 1.0000 condition_architecture_interpretable 20 0 99 Hereditary_nonpolyposis_colon_cancer 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control KCNQ1 efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 Cardiac arrhythmia EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 110 110 1.0000 condition_architecture_interpretable 20 0 103 Cardiac_arrhythmia 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKN1C mondo_mondo_0007534_medgen_c0004903_omim_130650_orphanet_116 Beckwith-Wiedemann syndrome MONDO:MONDO:0007534,MedGen:C0004903,OMIM:130650,Orphanet:116 110 110 1.0000 condition_architecture_interpretable 20 0 11 Beckwith-Wiedemann_syndrome 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC73 human_phenotype_ontology_hp_0006780_mondo_mondo_0012004_medgen_c0687150_omim_608266_orphanet_143 Parathyroid carcinoma Human_Phenotype_Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266,Orphanet:143 110 110 1.0000 condition_architecture_interpretable 20 0 33 Parathyroid_carcinoma 152 compact_adjacent_exon_block_opportunity local_compact_architecture CC2D2A mondo_mondo_0012848_medgen_c2676790_omim_612284_orphanet_564 Meckel syndrome, type 6 MONDO:MONDO:0012848,MedGen:C2676790,OMIM:612284,Orphanet:564 110 110 1.0000 condition_architecture_interpretable 20 0 98 Meckel_syndrome,_type_6 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 hereditary_hyperinsulinism Hereditary hyperinsulinism . 110 110 1.0000 condition_architecture_interpretable 20 0 81 Hereditary_hyperinsulinism 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1L mondo_mondo_0012694_medgen_c1969053_omim_611560_orphanet_220497 Joubert syndrome 7 MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560,Orphanet:220497 109 109 1.0000 condition_architecture_interpretable 20 0 100 Joubert_syndrome_7 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT2 mondo_mondo_0013162_medgen_c3150418_omim_613158_orphanet_206559 Autosomal recessive limb-girdle muscular dystrophy type 2N MONDO:MONDO:0013162,MedGen:C3150418,OMIM:613158,Orphanet:206559 109 109 1.0000 condition_architecture_interpretable 20 0 107 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2N 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCARE condition_not_provided condition not provided .|MedGen:C3661900 109 109 1.0000 condition_record_support_limited 20 109 27 See_cases|not_provided 151 compact_adjacent_exon_block_opportunity local_compact_architecture NOTCH3 mondo_mondo_0000914_medgen_c4551768_omim_125310_orphanet_136 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 MONDO:MONDO:0000914,MedGen:C4551768,OMIM:125310,Orphanet:136 109 109 1.0000 condition_architecture_interpretable 20 0 66 Cerebral_arteriopathy,_autosomal_dominant,_with_subcortical_infarcts_and_leukoencephalopathy,_type_1 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH2 mondo_mondo_0011577_medgen_c1854106_omim_605637_orphanet_363677_orphanet_79091 Myopathy, proximal, and ophthalmoplegia MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637,Orphanet:363677,Orphanet:79091 109 109 1.0000 condition_architecture_interpretable 20 0 13 Myopathy,_proximal,_and_ophthalmoplegia 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture HPS1 mondo_mondo_0008748_medgen_c2931875_omim_203300_orphanet_231500_orphanet_79430 Hermansky-Pudlak syndrome 1 MONDO:MONDO:0008748,MedGen:C2931875,OMIM:203300,Orphanet:231500,Orphanet:79430 109 109 1.0000 condition_architecture_interpretable 20 0 52 Hermansky-Pudlak_syndrome_1 194 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAMT mondo_mondo_0012999_medgen_c0574080_omim_612736_orphanet_382 Deficiency of guanidinoacetate methyltransferase MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382 109 109 1.0000 condition_architecture_interpretable 20 0 68 Deficiency_of_guanidinoacetate_methyltransferase 145 compact_adjacent_exon_block_opportunity local_compact_architecture FANCA condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 109 109 1.0000 condition_record_support_limited 20 109 94 See_cases|not_provided|not_specified 955 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOK7 mondo_mondo_0009690_medgen_c1850792_omim_254300_orphanet_590 Congenital myasthenic syndrome 10 MONDO:MONDO:0009690,MedGen:C1850792,OMIM:254300,Orphanet:590 109 109 1.0000 condition_architecture_interpretable 20 0 99 Congenital_myasthenic_syndrome_10 144 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DES mondo_mondo_0011076_medgen_c1832370_omim_601419_orphanet_363543_orphanet_98909 Desmin-related myofibrillar myopathy MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419,Orphanet:363543,Orphanet:98909 109 109 1.0000 condition_architecture_interpretable 20 0 49 Desmin-related_myofibrillar_myopathy 123 compact_adjacent_exon_block_opportunity local_compact_architecture ATP1A3 mondo_mondo_0007496_medgen_c1868681_omim_128235_orphanet_71517 Dystonia 12 MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517 109 109 1.0000 condition_architecture_interpretable 20 0 48 Dystonia_12 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TYMP condition_not_provided condition not provided MedGen:C3661900 108 108 1.0000 condition_record_support_limited 20 108 49 not_provided 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG11 mondo_mondo_0014726_medgen_c5569024_omim_616668_orphanet_466775 Charcot-Marie-Tooth disease axonal type 2X MONDO:MONDO:0014726,MedGen:C5569024,OMIM:616668,Orphanet:466775 108 108 1.0000 condition_architecture_interpretable 20 0 107 Charcot-Marie-Tooth_disease_axonal_type_2X 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A mondo_mondo_0015263_medgen_c1142166_omim_ps601144_orphanet_130 Brugada syndrome MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130 108 108 1.0000 condition_architecture_interpretable 20 0 83 Brugada_syndrome 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RYR1 human_phenotype_ontology_hp_0003789_human_phenotype_ontology_hp_0003804_mondo_mondo_0009712_medgen_c1850674_omim_255320_orphanet_598_orphanet_98905 Congenital multicore myopathy with external ophthalmoplegia Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:598,Orphanet:98905 108 108 1.0000 condition_architecture_interpretable 20 0 78 Congenital_multicore_myopathy_with_external_ophthalmoplegia 770 large_gene_or_donor_burden_stress_case donor_burden_stress MRE11 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 108 108 1.0000 condition_architecture_interpretable 20 0 61 Hereditary_cancer-predisposing_syndrome 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPDZ condition_not_provided condition not provided MedGen:C3661900 108 108 1.0000 condition_record_support_limited 20 108 18 not_provided 131 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ACVRL1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 108 108 1.0000 condition_record_support_limited 20 108 86 See_cases|not_provided|not_specified 546 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A6 condition_not_provided condition not provided MedGen:C3661900 107 107 1.0000 condition_record_support_limited 20 107 42 not_provided 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN8A mondo_mondo_0013801_medgen_c3281191_omim_614558_orphanet_442835 Developmental and epileptic encephalopathy, 13 MONDO:MONDO:0013801,MedGen:C3281191,OMIM:614558,Orphanet:442835 107 107 1.0000 condition_architecture_interpretable 20 0 56 Developmental_and_epileptic_encephalopathy,_13 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RP2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 107 107 1.0000 condition_record_support_limited 20 107 28 not_provided 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROM1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 107 107 1.0000 condition_record_support_limited 20 107 46 not_provided 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHIP mondo_mondo_0035133_medgen_c4693860_omim_617991_orphanet_589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome MONDO:MONDO:0035133,MedGen:C4693860,OMIM:617991,Orphanet:589905 107 107 1.0000 condition_architecture_interpretable 20 0 26 PHIP-related_behavioral_problems-intellectual_disability-obesity-dysmorphic_features_syndrome 177 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MMAB mondo_mondo_0009614_medgen_c1855102_omim_251110_orphanet_28_orphanet_79311 Methylmalonic aciduria, cblB type MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311 107 107 1.0000 condition_architecture_interpretable 20 0 17 Methylmalonic_aciduria,_cblB_type 108 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMX1B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 107 107 1.0000 condition_record_support_limited 20 107 26 not_provided 148 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF11 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 107 107 1.0000 condition_record_support_limited 20 107 20 not_provided|not_specified 180 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSK mondo_mondo_0009940_medgen_c0238402_omim_265800_orphanet_763 Pyknodysostosis MONDO:MONDO:0009940,MedGen:C0238402,OMIM:265800,Orphanet:763 107 107 1.0000 condition_architecture_interpretable 20 0 39 Pyknodysostosis 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG11 mondo_mondo_0011196_medgen_c1865864_omim_602099_orphanet_300605 Amyotrophic lateral sclerosis type 5 MONDO:MONDO:0011196,MedGen:C1865864,OMIM:602099,Orphanet:300605 106 106 1.0000 condition_architecture_interpretable 20 0 102 Amyotrophic_lateral_sclerosis_type_5 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SDHD human_phenotype_ontology_hp_0002666_mondo_mondo_0008233_medgen_c0031511_omim_171300_orphanet_29072 Pheochromocytoma Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072 106 106 1.0000 condition_architecture_interpretable 20 0 104 Pheochromocytoma 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPH2 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 106 106 1.0000 condition_architecture_interpretable 20 0 88 Retinal_dystrophy 361 compact_adjacent_exon_block_opportunity local_compact_architecture PEX6 mondo_mondo_0013930_medgen_c3553936_omim_614862_orphanet_912 Peroxisome biogenesis disorder 4A (Zellweger) MONDO:MONDO:0013930,MedGen:C3553936,OMIM:614862,Orphanet:912 106 106 1.0000 condition_architecture_interpretable 20 0 79 Peroxisome_biogenesis_disorder_4A_(Zellweger) 301 compact_adjacent_exon_block_opportunity local_compact_architecture MANBA mondo_mondo_0009562_medgen_c4048196_omim_248510_orphanet_118 Beta-D-mannosidosis MONDO:MONDO:0009562,MedGen:C4048196,OMIM:248510,Orphanet:118 106 106 1.0000 condition_architecture_interpretable 20 0 15 Beta-D-mannosidosis 109 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB1 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 106 106 1.0000 condition_architecture_interpretable 20 0 104 Charcot-Marie-Tooth_disease 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAM161A mondo_mondo_0011630_medgen_c1419614_omim_606068_orphanet_791 Retinitis pigmentosa 28 MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791 106 106 1.0000 condition_architecture_interpretable 20 0 53 Retinitis_pigmentosa_28 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRB1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 106 106 1.0000 condition_architecture_interpretable 20 0 78 Retinal_dystrophy 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BAG3 mondo_mondo_0013061_medgen_c2751831_omim_612954_orphanet_199340 Myofibrillar myopathy 6 MONDO:MONDO:0013061,MedGen:C2751831,OMIM:612954,Orphanet:199340 106 106 1.0000 condition_architecture_interpretable 20 0 106 Myofibrillar_myopathy_6 154 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AOPEP mondo_mondo_0009213_medgen_c3468041_omim_227645_orphanet_84 Fanconi anemia complementation group C MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645,Orphanet:84 106 106 1.0000 condition_architecture_interpretable 20 0 61 Fanconi_anemia_complementation_group_C 191 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZEB2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 105 105 1.0000 condition_record_support_limited 20 105 32 See_cases|not_provided 389 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFR2 mondo_mondo_0006507_medgen_c0392514_omim_ps235200 Hereditary hemochromatosis MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200 105 105 1.0000 condition_architecture_interpretable 20 0 45 Hereditary_hemochromatosis 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A13 mondo_mondo_0011326_medgen_cn295299_omim_603471_orphanet_247585 Citrullinemia, type II, adult-onset MONDO:MONDO:0011326,MedGen:CN295299,OMIM:603471,Orphanet:247585 105 105 1.0000 condition_architecture_interpretable 20 0 76 Citrullinemia,_type_II,_adult-onset 213 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SACS condition_not_provided condition not provided .|MedGen:C3661900 105 105 1.0000 condition_record_support_limited 20 105 79 See_cases|not_provided 990 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PTPN11 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 105 105 1.0000 condition_record_support_limited 20 105 91 not_provided|not_specified 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSEN1 mondo_mondo_0011913_medgen_c1843013_omim_607822_orphanet_1020 Alzheimer disease 3 MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822,Orphanet:1020 105 105 1.0000 condition_architecture_interpretable 20 0 92 Alzheimer_disease_3 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT1 mondo_mondo_0009364_medgen_c4284790_omim_236670_orphanet_588_orphanet_899 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899 105 105 1.0000 condition_architecture_interpretable 20 0 69 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LIG4 mondo_mondo_0011686_medgen_c1847827_omim_606593_orphanet_99812 DNA ligase IV deficiency MONDO:MONDO:0011686,MedGen:C1847827,OMIM:606593,Orphanet:99812 105 105 1.0000 condition_architecture_interpretable 20 0 20 DNA_ligase_IV_deficiency 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSD17B4 mondo_mondo_0017312_medgen_c0685838_omim_ps233400_orphanet_2855 Perrault syndrome MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855 105 105 1.0000 condition_architecture_interpretable 20 0 105 Perrault_syndrome 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALT condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 105 105 1.0000 condition_record_support_limited 20 105 93 not_provided|not_specified 333 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP1 mondo_mondo_0013352_medgen_c4013764_omim_613670_orphanet_391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome MONDO:MONDO:0013352,MedGen:C4013764,OMIM:613670,Orphanet:391372 105 105 1.0000 condition_architecture_interpretable 20 0 24 Intellectual_disability-severe_speech_delay-mild_dysmorphism_syndrome 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DUOX2 mondo_mondo_0011792_medgen_c1846632_omim_607200_orphanet_226316_orphanet_95716 Thyroid dyshormonogenesis 6 MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:226316,Orphanet:95716 105 105 1.0000 condition_architecture_interpretable 20 0 62 Thyroid_dyshormonogenesis_6 239 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP17A1 mondo_mondo_0008730_medgen_c0268285_omim_202110_orphanet_90793 Deficiency of steroid 17-alpha-monooxygenase MONDO:MONDO:0008730,MedGen:C0268285,OMIM:202110,Orphanet:90793 105 105 1.0000 condition_architecture_interpretable 20 0 65 Deficiency_of_steroid_17-alpha-monooxygenase 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRX mondo_mondo_0013449_medgen_c3151192_omim_613829_orphanet_65 Leber congenital amaurosis 7 MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829,Orphanet:65 105 105 1.0000 condition_architecture_interpretable 20 0 93 Leber_congenital_amaurosis_7 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN5 mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 Neuronal ceroid lipofuscinosis MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 105 105 1.0000 condition_architecture_interpretable 20 0 58 Neuronal_ceroid_lipofuscinosis 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX10 mondo_mondo_0013202_medgen_c2750452_omim_613266_orphanet_897 Waardenburg syndrome type 4C MONDO:MONDO:0013202,MedGen:C2750452,OMIM:613266,Orphanet:897 104 104 1.0000 condition_architecture_interpretable 20 0 19 Waardenburg_syndrome_type_4C 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCG mondo_mondo_0009677_medgen_c0410173_omim_253700_orphanet_353 Autosomal recessive limb-girdle muscular dystrophy type 2C MONDO:MONDO:0009677,MedGen:C0410173,OMIM:253700,Orphanet:353 104 104 1.0000 condition_architecture_interpretable 20 0 20 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2C 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SELENON mondo_mondo_0011271_medgen_c0410180_omim_602771 Eichsfeld type congenital muscular dystrophy MONDO:MONDO:0011271,MedGen:C0410180,OMIM:602771 104 104 1.0000 condition_architecture_interpretable 20 0 32 Eichsfeld_type_congenital_muscular_dystrophy 112 compact_adjacent_exon_block_opportunity local_compact_architecture RAG2 mondo_mondo_0011086_medgen_c1832322_omim_601457_orphanet_331206 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457,Orphanet:331206 104 104 1.0000 condition_architecture_interpretable 20 0 101 Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive 147 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR2F mondo_mondo_0013202_medgen_c2750452_omim_613266_orphanet_897 Waardenburg syndrome type 4C MONDO:MONDO:0013202,MedGen:C2750452,OMIM:613266,Orphanet:897 104 104 1.0000 condition_architecture_interpretable 20 0 19 Waardenburg_syndrome_type_4C 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 104 104 1.0000 condition_record_support_limited 20 104 47 See_cases|not_provided 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR0B1 mondo_mondo_0010264_medgen_c0342482_omim_300200_orphanet_95702 Congenital adrenal hypoplasia, X-linked MONDO:MONDO:0010264,MedGen:C0342482,OMIM:300200,Orphanet:95702 104 104 1.0000 condition_architecture_interpretable 20 0 43 Congenital_adrenal_hypoplasia,_X-linked 124 compact_adjacent_exon_block_opportunity local_compact_architecture HNRNPU mondo_mondo_0033363_medgen_c4479319_omim_617391 Developmental and epileptic encephalopathy, 54 MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 104 104 1.0000 condition_architecture_interpretable 20 0 12 Developmental_and_epileptic_encephalopathy,_54 148 compact_adjacent_exon_block_opportunity local_compact_architecture COL6A2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 104 104 1.0000 condition_record_support_limited 20 104 54 not_provided 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL1A2 mondo_mondo_0008148_medgen_c0268363_omim_166220_orphanet_216820_orphanet_666 Osteogenesis imperfecta with normal sclerae, dominant form MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220,Orphanet:216820,Orphanet:666 104 104 1.0000 condition_architecture_interpretable 20 0 75 Osteogenesis_imperfecta_with_normal_sclerae,_dominant_form 722 large_gene_or_donor_burden_stress_case donor_burden_stress BCKDHB mondo_mondo_0023692_medgen_c2930990_omim_620698 Maple syrup urine disease type 1B MONDO:MONDO:0023692,MedGen:C2930990,OMIM:620698 104 104 1.0000 condition_architecture_interpretable 20 0 80 Maple_syrup_urine_disease_type_1B 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USH1C mondo_mondo_0010171_medgen_c1848604_omim_276904_orphanet_231169_orphanet_886 Usher syndrome type 1C MONDO:MONDO:0010171,MedGen:C1848604,OMIM:276904,Orphanet:231169,Orphanet:886 103 103 1.0000 condition_architecture_interpretable 20 0 77 Usher_syndrome_type_1C 199 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USH1C mondo_mondo_0011192_medgen_c1865870_omim_602092_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 18A MONDO:MONDO:0011192,MedGen:C1865870,OMIM:602092,Orphanet:90636 103 103 1.0000 condition_architecture_interpretable 20 0 75 Autosomal_recessive_nonsyndromic_hearing_loss_18A 199 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TULP1 condition_not_provided condition not provided .|MedGen:C3661900 103 103 1.0000 condition_record_support_limited 20 103 43 See_cases|not_provided 151 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHD mondo_mondo_0011740_medgen_c1847319_omim_606864_orphanet_97286 Carney-Stratakis syndrome MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286 103 103 1.0000 condition_architecture_interpretable 20 0 103 Carney-Stratakis_syndrome 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LCA5 condition_not_provided condition not provided MedGen:C3661900 103 103 1.0000 condition_record_support_limited 20 103 45 not_provided 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI3 mondo_mondo_0008287_medgen_c0265306_omim_175700_orphanet_380 Greig cephalopolysyndactyly syndrome MONDO:MONDO:0008287,MedGen:C0265306,OMIM:175700,Orphanet:380 103 103 1.0000 condition_architecture_interpretable 20 0 79 Greig_cephalopolysyndactyly_syndrome 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLG mondo_mondo_0024304_medgen_c0079584_omim_146700 Ichthyosis vulgaris MONDO:MONDO:0024304,MedGen:C0079584,OMIM:146700 103 103 1.0000 condition_architecture_interpretable 20 0 68 Ichthyosis_vulgaris 246 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DOCK8 mondo_mondo_0009478_medgen_c4722305_omim_243700_orphanet_217390 Combined immunodeficiency due to DOCK8 deficiency MONDO:MONDO:0009478,MedGen:C4722305,OMIM:243700,Orphanet:217390 103 103 1.0000 condition_architecture_interpretable 20 0 15 Combined_immunodeficiency_due_to_DOCK8_deficiency 120 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DNAI2 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 103 103 1.0000 condition_architecture_interpretable 20 0 19 Primary_ciliary_dyskinesia 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUBN mondo_mondo_0100156_medgen_c4016819_omim_261100 Imerslund-Grasbeck syndrome type 1 MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100 103 103 1.0000 condition_architecture_interpretable 20 0 90 Imerslund-Grasbeck_syndrome_type_1 206 large_gene_or_donor_burden_stress_case donor_burden_stress CTNS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 103 103 1.0000 condition_architecture_interpretable 20 0 103 Inborn_genetic_diseases 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 103 103 1.0000 condition_record_support_limited 20 103 91 not_provided|not_specified 622 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TRMU condition_not_provided condition not provided MedGen:C3661900 102 102 1.0000 condition_record_support_limited 20 102 50 not_provided 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP3 human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Nephronophthisis Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 102 102 1.0000 condition_architecture_interpretable 20 0 40 Nephronophthisis 161 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MLC1 mondo_mondo_0024555_medgen_c5779875_omim_604004_orphanet_2478 Megalencephalic leukoencephalopathy with subcortical cysts 1 MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004,Orphanet:2478 102 102 1.0000 condition_architecture_interpretable 20 0 49 Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF4A mondo_mondo_0015967_medgen_c3888631_orphanet_183625 Monogenic diabetes MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625 102 102 1.0000 condition_architecture_interpretable 20 0 63 Monogenic_diabetes 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF1A mondo_mondo_0010894_medgen_c1838100_omim_600496_orphanet_552 Maturity-onset diabetes of the young type 3 MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552 102 102 1.0000 condition_architecture_interpretable 20 0 83 Maturity-onset_diabetes_of_the_young_type_3 384 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HBB mondo_mondo_0054801_medgen_c4693822_omim_617980 Erythrocytosis, familial, 6 MONDO:MONDO:0054801,MedGen:C4693822,OMIM:617980 102 102 1.0000 condition_architecture_interpretable 20 0 101 Erythrocytosis,_familial,_6 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB mondo_mondo_0013517_medgen_cn322236_omim_613985 Beta-thalassemia HBB/LCRB MONDO:MONDO:0013517,MedGen:CN322236,OMIM:613985 102 102 1.0000 condition_architecture_interpretable 20 0 93 Beta-thalassemia_HBB/LCRB 428 compact_adjacent_exon_block_opportunity local_compact_architecture GUSB mondo_mondo_0009662_medgen_c0085132_omim_253220_orphanet_584 Mucopolysaccharidosis type 7 MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220,Orphanet:584 102 102 1.0000 condition_architecture_interpretable 20 0 11 Mucopolysaccharidosis_type_7 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKTN mondo_mondo_0000171_medgen_c0265221_omim_ps236670_orphanet_899 Walker-Warburg congenital muscular dystrophy MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899 102 102 1.0000 condition_architecture_interpretable 20 0 50 Walker-Warburg_congenital_muscular_dystrophy 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUBN mondo_mondo_0030042_medgen_c5394384_omim_618884 Proteinuria, chronic benign MONDO:MONDO:0030042,MedGen:C5394384,OMIM:618884 102 102 1.0000 condition_architecture_interpretable 20 0 92 Proteinuria,_chronic_benign 206 large_gene_or_donor_burden_stress_case donor_burden_stress CLN5 mondo_mondo_0009745_medgen_c1850442_omim_256731_orphanet_168491_orphanet_228360 Neuronal ceroid lipofuscinosis 5 MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731,Orphanet:168491,Orphanet:228360 102 102 1.0000 condition_architecture_interpretable 20 0 57 Neuronal_ceroid_lipofuscinosis_5 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHAT mondo_mondo_0009689_medgen_c0393929_omim_254210_orphanet_590 Familial infantile myasthenia MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590 102 102 1.0000 condition_architecture_interpretable 20 0 26 Familial_infantile_myasthenia 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A mondo_mondo_0100153_medgen_cn850169 Tubulinopathy MONDO:MONDO:0100153,MedGen:CN850169 101 101 1.0000 condition_architecture_interpretable 20 0 69 Tubulinopathy 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPTB mondo_mondo_0000913_medgen_c2674219_omim_616649_orphanet_822 Hereditary spherocytosis type 2 MONDO:MONDO:0000913,MedGen:C2674219,OMIM:616649,Orphanet:822 101 101 1.0000 condition_architecture_interpretable 20 0 39 Hereditary_spherocytosis_type_2 557 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SH3TC2 mondo_mondo_0018995_medgen_c4082197_orphanet_64749 Charcot-Marie-Tooth disease type 4 MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749 101 101 1.0000 condition_architecture_interpretable 20 0 47 Charcot-Marie-Tooth_disease_type_4 162 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHD mondo_mondo_0014045_medgen_cn166604_orphanet_201 Cowden syndrome 3 MONDO:MONDO:0014045,MedGen:CN166604,Orphanet:201 101 101 1.0000 condition_architecture_interpretable 20 0 101 Cowden_syndrome_3 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTS mondo_mondo_0009863_medgen_c0878676_omim_261640_orphanet_13_orphanet_238583 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency MONDO:MONDO:0009863,MedGen:C0878676,OMIM:261640,Orphanet:13,Orphanet:238583 101 101 1.0000 condition_architecture_interpretable 20 0 17 6-Pyruvoyl-tetrahydrobiopterin_synthase_deficiency 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP4 human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Nephronophthisis Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 101 101 1.0000 condition_architecture_interpretable 20 0 46 Nephronophthisis 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF1A mondo_mondo_0013634_medgen_c3280168_omim_614213_orphanet_970 Neuropathy, hereditary sensory, type 2C MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213,Orphanet:970 101 101 1.0000 condition_architecture_interpretable 20 0 101 Neuropathy,_hereditary_sensory,_type_2C 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture GRIN2B condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 101 101 1.0000 condition_record_support_limited 20 101 51 See_cases|not_provided|not_specified 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNPTG condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 101 101 1.0000 condition_record_support_limited 20 101 40 not_provided 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRG2 mondo_mondo_0011891_medgen_c1969810_omim_607681_orphanet_36387 Febrile seizures, familial, 8 MONDO:MONDO:0011891,MedGen:C1969810,OMIM:607681,Orphanet:36387 101 101 1.0000 condition_architecture_interpretable 20 0 90 Febrile_seizures,_familial,_8 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLNB condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 101 101 1.0000 condition_record_support_limited 20 101 17 See_cases|not_provided|not_specified 153 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CYP17A1 condition_not_provided condition not provided MedGen:C3661900 101 101 1.0000 condition_record_support_limited 20 101 62 not_provided 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COLQ mondo_mondo_0011281_medgen_c1864233_omim_603034_orphanet_590 Congenital myasthenic syndrome 5 MONDO:MONDO:0011281,MedGen:C1864233,OMIM:603034,Orphanet:590 101 101 1.0000 condition_architecture_interpretable 20 0 17 Congenital_myasthenic_syndrome_5 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNA1S mondo_mondo_0042979_medgen_c3714580_omim_170400_orphanet_681 Hypokalemic periodic paralysis, type 1 MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681 101 101 1.0000 condition_architecture_interpretable 20 0 93 Hypokalemic_periodic_paralysis,_type_1 126 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture WNT10A mondo_mondo_0009773_medgen_c0796093_omim_257980_orphanet_2721 Odonto-onycho-dermal dysplasia MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980,Orphanet:2721 100 100 1.0000 condition_architecture_interpretable 20 0 94 Odonto-onycho-dermal_dysplasia 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPS1 medgen_c1860823_omim_190351_orphanet_77258 Trichorhinophalangeal syndrome, type III MedGen:C1860823,OMIM:190351,Orphanet:77258 100 100 1.0000 condition_architecture_interpretable 20 0 97 Trichorhinophalangeal_syndrome,_type_III 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 100 100 1.0000 condition_record_support_limited 20 100 42 not_provided 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHD medgen_c1868633 Paragangliomas with sensorineural hearing loss MedGen:C1868633 100 100 1.0000 condition_architecture_interpretable 20 0 100 Paragangliomas_with_sensorineural_hearing_loss 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD1 mondo_mondo_0016002_medgen_c0268342_omim_225400_orphanet_1900 Ehlers-Danlos syndrome, kyphoscoliotic type 1 MONDO:MONDO:0016002,MedGen:C0268342,OMIM:225400,Orphanet:1900 100 100 1.0000 condition_architecture_interpretable 20 0 22 Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NGLY1 mondo_mondo_0031376_medgen_c3808991_omim_ps615273 Congenital disorder of deglycosylation MONDO:MONDO:0031376,MedGen:C3808991,OMIM:PS615273 100 100 1.0000 condition_architecture_interpretable 20 0 29 Congenital_disorder_of_deglycosylation 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTTP condition_not_provided condition not provided MedGen:C3661900 100 100 1.0000 condition_record_support_limited 20 100 35 not_provided 179 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F11 plasma_factor_xi_deficiency Plasma factor XI deficiency . 100 100 1.0000 condition_architecture_interpretable 20 0 72 Plasma_factor_XI_deficiency 216 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL12A1 mondo_mondo_0034022_medgen_c4225313_omim_616471_orphanet_536516_orphanet_610 Bethlem myopathy 2 MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471,Orphanet:536516,Orphanet:610 100 100 1.0000 condition_architecture_interpretable 20 0 88 Bethlem_myopathy_2 132 large_gene_or_donor_burden_stress_case donor_burden_stress CHD8 mondo_mondo_0014017_medgen_c3554373_omim_615032_orphanet_642675 Intellectual developmental disorder with autism and macrocephaly MONDO:MONDO:0014017,MedGen:C3554373,OMIM:615032,Orphanet:642675 100 100 1.0000 condition_architecture_interpretable 20 0 23 Intellectual_developmental_disorder_with_autism_and_macrocephaly 212 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BRCA1 mondo_mondo_0013685_medgen_c3280442_omim_614320_orphanet_1333 Pancreatic cancer, susceptibility to, 4 MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320,Orphanet:1333 100 100 1.0000 condition_architecture_interpretable 20 0 100 Pancreatic_cancer,_susceptibility_to,_4 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BBS4 mondo_mondo_0014433_medgen_c2936864_omim_615982_orphanet_110 Bardet-Biedl syndrome 4 MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982,Orphanet:110 100 100 1.0000 condition_architecture_interpretable 20 0 53 Bardet-Biedl_syndrome_4 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS4 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 100 100 1.0000 condition_architecture_interpretable 20 0 54 Bardet-Biedl_syndrome 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC21B human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Nephronophthisis Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 99 99 1.0000 condition_architecture_interpretable 20 0 99 Nephronophthisis 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC21B mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 Jeune thoracic dystrophy MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 99 99 1.0000 condition_architecture_interpretable 20 0 98 Jeune_thoracic_dystrophy 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSC1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 99 99 1.0000 condition_architecture_interpretable 20 0 63 Hereditary_cancer-predisposing_syndrome 739 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control STXBP2 mondo_mondo_0013135_medgen_c2751293_omim_613101_orphanet_540 Familial hemophagocytic lymphohistiocytosis 5 MONDO:MONDO:0013135,MedGen:C2751293,OMIM:613101,Orphanet:540 99 99 1.0000 condition_architecture_interpretable 20 0 13 Familial_hemophagocytic_lymphohistiocytosis_5 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA4 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 99 99 1.0000 condition_architecture_interpretable 20 0 39 Hereditary_cancer-predisposing_syndrome 321 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC4A11 mondo_mondo_0009015_medgen_c1857572_omim_217400_orphanet_1490 Corneal dystrophy-perceptive deafness syndrome MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490 99 99 1.0000 condition_architecture_interpretable 20 0 66 Corneal_dystrophy-perceptive_deafness_syndrome 179 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX7 mondo_mondo_0013945_medgen_c2749346_omim_614879_orphanet_773 Peroxisome biogenesis disorder 9B MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879,Orphanet:773 99 99 1.0000 condition_architecture_interpretable 20 0 54 Peroxisome_biogenesis_disorder_9B 142 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR2E3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 99 99 1.0000 condition_record_support_limited 20 99 55 not_provided|not_specified 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXT1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 99 99 1.0000 condition_record_support_limited 20 99 67 not_provided 516 compact_adjacent_exon_block_opportunity local_compact_architecture CRX mondo_mondo_0007362_medgen_c3489532_omim_120970_orphanet_1872 Cone-rod dystrophy 2 MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970,Orphanet:1872 99 99 1.0000 condition_architecture_interpretable 20 0 91 Cone-rod_dystrophy_2 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASK mondo_mondo_0010417_medgen_c2677903_omim_300749_orphanet_163937 Syndromic X-linked intellectual disability Najm type MONDO:MONDO:0010417,MedGen:C2677903,OMIM:300749,Orphanet:163937 99 99 1.0000 condition_architecture_interpretable 20 0 33 Syndromic_X-linked_intellectual_disability_Najm_type 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NTHL1 condition_not_provided condition not provided MedGen:C3661900 98 98 1.0000 condition_record_support_limited 20 98 63 not_provided 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO7A medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 98 98 1.0000 condition_architecture_interpretable 20 0 83 Rare_genetic_deafness 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MTR mondo_mondo_0009609_medgen_c1855128_omim_250940_orphanet_2170_orphanet_622 Methylcobalamin deficiency type cblG MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622 98 98 1.0000 condition_architecture_interpretable 20 0 18 Methylcobalamin_deficiency_type_cblG 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED13L condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 98 98 1.0000 condition_record_support_limited 20 98 30 See_cases|not_provided 284 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LCA5 mondo_mondo_0011473_medgen_c1858301_omim_604537_orphanet_65 Leber congenital amaurosis 5 MONDO:MONDO:0011473,MedGen:C1858301,OMIM:604537,Orphanet:65 98 98 1.0000 condition_architecture_interpretable 20 0 42 Leber_congenital_amaurosis_5 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXG1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 98 98 1.0000 condition_record_support_limited 20 98 53 not_provided|not_specified 278 single_exon_hotspot_opportunity local_compact_architecture CHD8 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 98 98 1.0000 condition_record_support_limited 20 98 28 not_provided 212 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ABCB4 condition_not_provided condition not provided MedGen:C3661900 98 98 1.0000 condition_record_support_limited 20 98 38 not_provided 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A1 condition_not_provided condition not provided .|MedGen:C3661900 97 97 1.0000 condition_record_support_limited 20 97 36 See_cases|not_provided 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBM20 mondo_mondo_0013168_medgen_c2750995_omim_613172_orphanet_154 Dilated cardiomyopathy 1DD MONDO:MONDO:0013168,MedGen:C2750995,OMIM:613172,Orphanet:154 97 97 1.0000 condition_architecture_interpretable 20 0 8 Dilated_cardiomyopathy_1DD 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRRT2 mondo_mondo_0044202_medgen_c1868682_omim_ps128200_orphanet_98809 Episodic kinesigenic dyskinesia MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200,Orphanet:98809 97 97 1.0000 condition_architecture_interpretable 20 0 30 Episodic_kinesigenic_dyskinesia 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF3 mondo_mondo_0011272_medgen_c1864446_omim_602772_orphanet_791 Retinitis pigmentosa 25 MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791 97 97 1.0000 condition_architecture_interpretable 20 0 61 Retinitis_pigmentosa_25 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP mondo_mondo_0011787_medgen_c1846672_omim_607155_orphanet_34515 Autosomal recessive limb-girdle muscular dystrophy type 2I MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155,Orphanet:34515 97 97 1.0000 condition_architecture_interpretable 20 0 71 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 mondo_mondo_0014035_medgen_c3554449_omim_615075_orphanet_404473 Severe intellectual disability-progressive spastic diplegia syndrome MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473 97 97 1.0000 condition_architecture_interpretable 20 0 25 Severe_intellectual_disability-progressive_spastic_diplegia_syndrome 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APC mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 97 97 1.0000 condition_architecture_interpretable 20 0 70 Carcinoma_of_colon 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control AHDC1 mondo_mondo_0014358_medgen_c4014419_omim_615829_orphanet_412069 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome MONDO:MONDO:0014358,MedGen:C4014419,OMIM:615829,Orphanet:412069 97 97 1.0000 condition_architecture_interpretable 20 0 26 AHDC1-related_intellectual_disability_-_obstructive_sleep_apnea_-_mild_dysmorphism_syndrome 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WNT10A mondo_mondo_0007881_medgen_c1835492_omim_150400_orphanet_99798 Tooth agenesis, selective, 4 MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400,Orphanet:99798 96 96 1.0000 condition_architecture_interpretable 20 0 92 Tooth_agenesis,_selective,_4 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 Noonan syndrome 1 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 96 96 1.0000 condition_architecture_interpretable 20 0 91 Noonan_syndrome_1 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLEC mondo_mondo_0014661_medgen_c4225309_omim_616487 Epidermolysis bullosa simplex with nail dystrophy MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487 96 96 1.0000 condition_architecture_interpretable 20 0 87 Epidermolysis_bullosa_simplex_with_nail_dystrophy 154 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKD2 mondo_mondo_0004691_medgen_c0085413_orphanet_730 Autosomal dominant polycystic kidney disease MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730 96 96 1.0000 condition_architecture_interpretable 20 0 55 Autosomal_dominant_polycystic_kidney_disease 428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPC1 mondo_mondo_0018982_medgen_c0220756_orphanet_646 Niemann-Pick disease, type C MONDO:MONDO:0018982,MedGen:C0220756,Orphanet:646 96 96 1.0000 condition_architecture_interpretable 20 0 90 Niemann-Pick_disease,_type_C 634 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MVK mondo_mondo_0009849_medgen_c0398691_omim_260920_orphanet_343 Hyperimmunoglobulin D with periodic fever MONDO:MONDO:0009849,MedGen:C0398691,OMIM:260920,Orphanet:343 96 96 1.0000 condition_architecture_interpretable 20 0 91 Hyperimmunoglobulin_D_with_periodic_fever 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LPL condition_not_provided condition not provided .|MedGen:C3661900 96 96 1.0000 condition_record_support_limited 20 96 44 .|not_provided 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMNA cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 96 96 1.0000 condition_architecture_interpretable 20 0 76 Cardiovascular_phenotype 536 compact_adjacent_exon_block_opportunity local_compact_architecture INVS human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Nephronophthisis Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 96 96 1.0000 condition_architecture_interpretable 20 0 32 Nephronophthisis 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMGCL mondo_mondo_0009520_medgen_c1533587_omim_246450_orphanet_20 Deficiency of hydroxymethylglutaryl-CoA lyase MONDO:MONDO:0009520,MedGen:C1533587,OMIM:246450,Orphanet:20 96 96 1.0000 condition_architecture_interpretable 20 0 28 Deficiency_of_hydroxymethylglutaryl-CoA_lyase 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B mondo_mondo_0014505_medgen_c4015316_omim_616139_orphanet_3451 Developmental and epileptic encephalopathy, 27 MONDO:MONDO:0014505,MedGen:C4015316,OMIM:616139,Orphanet:3451 96 96 1.0000 condition_architecture_interpretable 20 0 81 Developmental_and_epileptic_encephalopathy,_27 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN1 mondo_mondo_0013655_medgen_c3280282_omim_614254 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant MONDO:MONDO:0013655,MedGen:C3280282,OMIM:614254 96 96 1.0000 condition_architecture_interpretable 20 0 23 Neurodevelopmental_disorder_with_or_without_hyperkinetic_movements_and_seizures,_autosomal_dominant 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAMT mondo_mondo_0000456_medgen_c5244016_omim_ps300352_orphanet_79172 Cerebral creatine deficiency syndrome MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172 96 96 1.0000 condition_architecture_interpretable 20 0 66 Cerebral_creatine_deficiency_syndrome 145 compact_adjacent_exon_block_opportunity local_compact_architecture COL1A1 mondo_mondo_0009804_medgen_c0268362_omim_259420_orphanet_216812_orphanet_666 Osteogenesis imperfecta type III MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420,Orphanet:216812,Orphanet:666 96 96 1.0000 condition_architecture_interpretable 20 0 73 Osteogenesis_imperfecta_type_III 1430 large_gene_or_donor_burden_stress_case donor_burden_stress CDKL5 mondo_mondo_0010725_medgen_c3714753_omim_312700_orphanet_792 Juvenile retinoschisis MONDO:MONDO:0010725,MedGen:C3714753,OMIM:312700,Orphanet:792 96 96 1.0000 condition_architecture_interpretable 20 0 68 Juvenile_retinoschisis 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNA1S mondo_mondo_0011163_medgen_c1866077_omim_601887_orphanet_423 Malignant hyperthermia, susceptibility to, 5 MONDO:MONDO:0011163,MedGen:C1866077,OMIM:601887,Orphanet:423 96 96 1.0000 condition_architecture_interpretable 20 0 93 Malignant_hyperthermia,_susceptibility_to,_5 126 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BCKDHA mondo_mondo_0023691_medgen_c1855369_omim_248600 Maple syrup urine disease type 1A MONDO:MONDO:0023691,MedGen:C1855369,OMIM:248600 96 96 1.0000 condition_architecture_interpretable 20 0 68 Maple_syrup_urine_disease_type_1A 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AR condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 96 96 1.0000 condition_record_support_limited 20 96 46 See_cases|not_provided 365 compact_adjacent_exon_block_opportunity local_compact_architecture ABCC8 mondo_mondo_0030088_medgen_c5394303_omim_618857 Diabetes mellitus, permanent neonatal 3 MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857 96 96 1.0000 condition_architecture_interpretable 20 0 95 Diabetes_mellitus,_permanent_neonatal_3 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC39A4 condition_not_provided condition not provided MedGen:C3661900 95 95 1.0000 condition_record_support_limited 20 95 29 not_provided 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1L mondo_mondo_0012695_medgen_c1969052_omim_611561_orphanet_564 Meckel syndrome, type 5 MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561,Orphanet:564 95 95 1.0000 condition_architecture_interpretable 20 0 93 Meckel_syndrome,_type_5 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA6 mondo_mondo_0012787_medgen_c2677586_omim_612020_orphanet_139480 Hereditary spastic paraplegia 39 MONDO:MONDO:0012787,MedGen:C2677586,OMIM:612020,Orphanet:139480 95 95 1.0000 condition_architecture_interpretable 20 0 21 Hereditary_spastic_paraplegia_39 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLEC mondo_mondo_0009181_medgen_c2931072_omim_226670_orphanet_257 Epidermolysis bullosa simplex 5B, with muscular dystrophy MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257 95 95 1.0000 condition_architecture_interpretable 20 0 86 Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy 154 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PHKA2 mondo_mondo_0010598_medgen_c3694531_omim_306000_orphanet_264580 Glycogen storage disease IXa1 MONDO:MONDO:0010598,MedGen:C3694531,OMIM:306000,Orphanet:264580 95 95 1.0000 condition_architecture_interpretable 20 0 20 Glycogen_storage_disease_IXa1 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PALB2 mondo_mondo_0957530_medgen_c5830615_omim_620442 Breast-ovarian cancer, familial, susceptibility to, 5 MONDO:MONDO:0957530,MedGen:C5830615,OMIM:620442 95 95 1.0000 condition_architecture_interpretable 20 0 88 Breast-ovarian_cancer,_familial,_susceptibility_to,_5 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control OFD1 mondo_mondo_0010702_medgen_c1510460_omim_311200_orphanet_2750 Orofaciodigital syndrome I MONDO:MONDO:0010702,MedGen:C1510460,OMIM:311200,Orphanet:2750 95 95 1.0000 condition_architecture_interpretable 20 0 59 Orofaciodigital_syndrome_I 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OCRL mondo_mondo_0010645_medgen_c0028860_omim_309000_orphanet_534 Lowe syndrome MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000,Orphanet:534 95 95 1.0000 condition_architecture_interpretable 20 0 26 Lowe_syndrome 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LIPA mondo_mondo_0019148_medgen_c0043208_omim_620151_orphanet_75233 Wolman disease MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151,Orphanet:75233 95 95 1.0000 condition_architecture_interpretable 20 0 61 Wolman_disease 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMC2 mondo_mondo_0009182_medgen_c0079683_omim_226700_orphanet_79404 Junctional epidermolysis bullosa gravis of Herlitz MONDO:MONDO:0009182,MedGen:C0079683,OMIM:226700,Orphanet:79404 95 95 1.0000 condition_architecture_interpretable 20 0 21 Junctional_epidermolysis_bullosa_gravis_of_Herlitz 223 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMB3 mondo_mondo_0009180_medgen_c0268374_omim_226650_orphanet_251393_orphanet_79402_orphanet_79405_orphanet_89840 Junctional epidermolysis bullosa, non-Herlitz type MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840 95 95 1.0000 condition_architecture_interpretable 20 0 88 Junctional_epidermolysis_bullosa,_non-Herlitz_type 305 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KAT6A mondo_mondo_0014558_medgen_c4225396_omim_616268_orphanet_457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome MONDO:MONDO:0014558,MedGen:C4225396,OMIM:616268,Orphanet:457193 95 95 1.0000 condition_architecture_interpretable 20 0 23 Autosomal_dominant_intellectual_disability-craniofacial_anomalies-cardiac_defects_syndrome 191 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture IDUA mondo_mondo_0011759_medgen_c0086431_omim_607015_orphanet_93476 Mucopolysaccharidosis, MPS-I-H/S MONDO:MONDO:0011759,MedGen:C0086431,OMIM:607015,Orphanet:93476 95 95 1.0000 condition_architecture_interpretable 20 0 76 Mucopolysaccharidosis,_MPS-I-H/S 419 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRN mondo_mondo_0011842_medgen_c1843792_omim_607485_orphanet_100070_orphanet_282 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485,Orphanet:100070,Orphanet:282 95 95 1.0000 condition_architecture_interpretable 20 0 84 GRN-related_frontotemporal_lobar_degeneration_with_Tdp43_inclusions 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBN2 mondo_mondo_0007363_medgen_c0220668_omim_121050_orphanet_115 Congenital contractural arachnodactyly MONDO:MONDO:0007363,MedGen:C0220668,OMIM:121050,Orphanet:115 95 95 1.0000 condition_architecture_interpretable 20 0 12 Congenital_contractural_arachnodactyly 122 large_gene_or_donor_burden_stress_case donor_burden_stress EFTUD2 mondo_mondo_0012516_medgen_c1864652_omim_610536_orphanet_79113 Mandibulofacial dysostosis-microcephaly syndrome MONDO:MONDO:0012516,MedGen:C1864652,OMIM:610536,Orphanet:79113 95 95 1.0000 condition_architecture_interpretable 20 0 20 Mandibulofacial_dysostosis-microcephaly_syndrome 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOK7 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 95 95 1.0000 condition_architecture_interpretable 20 0 95 Fetal_akinesia_deformation_sequence_1 144 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL12A1 mondo_mondo_0014654_medgen_c4225314_omim_616470_orphanet_75840 Ullrich congenital muscular dystrophy 2 MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470,Orphanet:75840 95 95 1.0000 condition_architecture_interpretable 20 0 87 Ullrich_congenital_muscular_dystrophy_2 132 large_gene_or_donor_burden_stress_case donor_burden_stress CIITA mondo_mondo_0008855_medgen_c5447452_omim_ps209920_orphanet_572 MHC class II deficiency MONDO:MONDO:0008855,MedGen:C5447452,OMIM:PS209920,Orphanet:572 95 95 1.0000 condition_architecture_interpretable 20 0 11 MHC_class_II_deficiency 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASR condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 95 95 1.0000 condition_record_support_limited 20 95 59 not_provided 313 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH3A2 condition_not_provided condition not provided MedGen:C3661900 95 95 1.0000 condition_record_support_limited 20 95 56 not_provided 178 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMC1 mondo_mondo_0010967_medgen_c1832978_omim_600974_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 7 MONDO:MONDO:0010967,MedGen:C1832978,OMIM:600974,Orphanet:90636 94 94 1.0000 condition_architecture_interpretable 20 0 29 Autosomal_recessive_nonsyndromic_hearing_loss_7 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RHO mondo_mondo_0013395_medgen_c3151001_omim_613731_orphanet_791 Retinitis pigmentosa 4 MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731,Orphanet:791 94 94 1.0000 condition_architecture_interpretable 20 0 74 Retinitis_pigmentosa_4 198 compact_adjacent_exon_block_opportunity local_compact_architecture RET mondo_mondo_0019003_medgen_c4048306_orphanet_653 Multiple endocrine neoplasia, type 2 MONDO:MONDO:0019003,MedGen:C4048306,Orphanet:653 94 94 1.0000 condition_architecture_interpretable 20 0 61 Multiple_endocrine_neoplasia,_type_2 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POT1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 94 94 1.0000 condition_architecture_interpretable 20 0 46 Hereditary_cancer-predisposing_syndrome 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLEC mondo_mondo_0012807_medgen_c2677349_omim_612138_orphanet_158684 Epidermolysis bullosa simplex 5C, with pyloric atresia MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684 94 94 1.0000 condition_architecture_interpretable 20 0 87 Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia 154 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKP2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 94 94 1.0000 condition_architecture_interpretable 20 0 82 Cardiovascular_phenotype 344 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHGDH mondo_mondo_0011152_medgen_c1866174_omim_601815_orphanet_79351 PHGDH deficiency MONDO:MONDO:0011152,MedGen:C1866174,OMIM:601815,Orphanet:79351 94 94 1.0000 condition_architecture_interpretable 20 0 29 PHGDH_deficiency 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPC1 condition_not_provided condition not provided MedGen:C3661900 94 94 1.0000 condition_record_support_limited 20 94 81 not_provided 634 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 mondo_mondo_0011103_medgen_c2675750_omim_601544_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 3A MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544,Orphanet:90635 94 94 1.0000 condition_architecture_interpretable 20 0 91 Autosomal_dominant_nonsyndromic_hearing_loss_3A 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETHE1 mondo_mondo_0011229_medgen_c1865349_omim_602473_orphanet_51188 Ethylmalonic encephalopathy MONDO:MONDO:0011229,MedGen:C1865349,OMIM:602473,Orphanet:51188 94 94 1.0000 condition_architecture_interpretable 20 0 8 Ethylmalonic_encephalopathy 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYRK1A condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 94 94 1.0000 condition_record_support_limited 20 94 47 See_cases|not_provided 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 94 94 1.0000 condition_record_support_limited 20 94 12 See_cases|not_provided 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKN2A mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 94 94 1.0000 condition_architecture_interpretable 20 0 74 Hereditary_cancer-predisposing_syndrome 168 compact_adjacent_exon_block_opportunity local_compact_architecture VWF mondo_mondo_0013304_medgen_c1264040_omim_613554_orphanet_166081_orphanet_903 von Willebrand disease type 2 MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903 93 93 1.0000 condition_architecture_interpretable 20 0 76 von_Willebrand_disease_type_2 454 large_gene_or_donor_burden_stress_case donor_burden_stress VWF mondo_mondo_0008668_medgen_c1264039_omim_193400_orphanet_166078_orphanet_903 von Willebrand disease type 1 MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903 93 93 1.0000 condition_architecture_interpretable 20 0 54 von_Willebrand_disease_type_1 454 large_gene_or_donor_burden_stress_case donor_burden_stress TTN ttn_related_disorder TTN-related disorder . 93 93 1.0000 condition_architecture_interpretable 20 0 63 TTN-related_disorder 5807 large_gene_or_donor_burden_stress_case donor_burden_stress POLR3A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 93 93 1.0000 condition_record_support_limited 20 93 41 not_provided|not_specified 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PALB2 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 93 93 1.0000 condition_architecture_interpretable 20 0 85 Hereditary_breast_ovarian_cancer_syndrome 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 nf1_related_disorder NF1-related disorder MedGen:CN379171 93 93 1.0000 condition_architecture_interpretable 20 0 75 NF1-related_disorder 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MVK mondo_mondo_0012481_medgen_c1959626_omim_610377_orphanet_29 Mevalonic aciduria MONDO:MONDO:0012481,MedGen:C1959626,OMIM:610377,Orphanet:29 93 93 1.0000 condition_architecture_interpretable 20 0 89 Mevalonic_aciduria 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MUTYH condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 93 93 1.0000 condition_record_support_limited 20 93 88 not_provided|not_specified 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MLH1 mondo_mondo_0007356_medgen_c2936783_omim_120435_orphanet_144 Lynch syndrome 1 MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144 93 93 1.0000 condition_architecture_interpretable 20 0 77 Lynch_syndrome_1 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MBD4 condition_not_provided condition not provided MedGen:C3661900 93 93 1.0000 condition_record_support_limited 20 93 46 not_provided 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LIPA mondo_mondo_0800449_medgen_c5574740_omim_ps278000_orphanet_275761 Lysosomal acid lipase deficiency MONDO:MONDO:0800449,MedGen:C5574740,OMIM:PS278000,Orphanet:275761 93 93 1.0000 condition_architecture_interpretable 20 0 46 Lysosomal_acid_lipase_deficiency 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARSA condition_not_provided condition not provided MedGen:C3661900 93 93 1.0000 condition_record_support_limited 20 93 89 not_provided 357 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTCH1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 92 92 1.0000 condition_record_support_limited 20 92 47 See_cases|not_provided 736 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NTHL1 mondo_mondo_0014630_medgen_c4225157_omim_616415_orphanet_220460_orphanet_454840 Familial adenomatous polyposis 3 MONDO:MONDO:0014630,MedGen:C4225157,OMIM:616415,Orphanet:220460,Orphanet:454840 92 92 1.0000 condition_architecture_interpretable 20 0 63 Familial_adenomatous_polyposis_3 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MVK mondo_mondo_0008293_medgen_c1867981_omim_175900 Porokeratosis 3, disseminated superficial actinic type MONDO:MONDO:0008293,MedGen:C1867981,OMIM:175900 92 92 1.0000 condition_architecture_interpretable 20 0 87 Porokeratosis_3,_disseminated_superficial_actinic_type 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MBD5 mondo_mondo_0007974_medgen_c1969562_omim_156200_orphanet_228402 Intellectual disability, autosomal dominant 1 MONDO:MONDO:0007974,MedGen:C1969562,OMIM:156200,Orphanet:228402 92 92 1.0000 condition_architecture_interpretable 20 0 12 Intellectual_disability,_autosomal_dominant_1 119 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FBXL5 mondo_mondo_0012849_medgen_c2676788_omim_612285_orphanet_2318 Joubert syndrome 9 MONDO:MONDO:0012849,MedGen:C2676788,OMIM:612285,Orphanet:2318 92 92 1.0000 condition_architecture_interpretable 20 0 82 Joubert_syndrome_9 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETFDH glutaric_acidemia_type_2c Glutaric acidemia type 2C . 92 92 1.0000 condition_architecture_interpretable 20 0 77 Glutaric_acidemia_type_2C 301 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 mondo_mondo_0012480_medgen_c1835887_omim_610374_orphanet_99886 Diabetes mellitus, transient neonatal, 2 MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886 92 92 1.0000 condition_architecture_interpretable 20 0 91 Diabetes_mellitus,_transient_neonatal,_2 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZDHHC24 mondo_mondo_0008854_medgen_c2936862_omim_209900 Bardet-Biedl syndrome 1 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 91 91 1.0000 condition_architecture_interpretable 20 0 52 Bardet-Biedl_syndrome_1 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VWF mondo_mondo_0019565_medgen_c5703318_orphanet_903 Hereditary von Willebrand disease MONDO:MONDO:0019565,MedGen:C5703318,Orphanet:903 91 91 1.0000 condition_architecture_interpretable 20 0 66 Hereditary_von_Willebrand_disease 454 large_gene_or_donor_burden_stress_case donor_burden_stress USH2A medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 91 91 1.0000 condition_architecture_interpretable 20 0 85 Rare_genetic_deafness 2100 large_gene_or_donor_burden_stress_case donor_burden_stress SCN5A mondo_mondo_0011001_medgen_c4551804_omim_601144_orphanet_130 Brugada syndrome 1 MONDO:MONDO:0011001,MedGen:C4551804,OMIM:601144,Orphanet:130 91 91 1.0000 condition_architecture_interpretable 20 0 64 Brugada_syndrome_1 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RPS6KA3 mondo_mondo_0010561_medgen_c0265252_omim_303600_orphanet_192 Coffin-Lowry syndrome MONDO:MONDO:0010561,MedGen:C0265252,OMIM:303600,Orphanet:192 91 91 1.0000 condition_architecture_interpretable 20 0 44 Coffin-Lowry_syndrome 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1L mondo_mondo_0030862_medgen_c5436841_omim_619113 COACH syndrome 3 MONDO:MONDO:0030862,MedGen:C5436841,OMIM:619113 91 91 1.0000 condition_architecture_interpretable 20 0 91 COACH_syndrome_3 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAG1 mondo_mondo_0012359_medgen_c1835931_omim_609889_orphanet_231154 Combined immunodeficiency due to partial RAG1 deficiency MONDO:MONDO:0012359,MedGen:C1835931,OMIM:609889,Orphanet:231154 91 91 1.0000 condition_architecture_interpretable 20 0 77 Combined_immunodeficiency_due_to_partial_RAG1_deficiency 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM5C mondo_mondo_0010355_medgen_c1845243_omim_300534_orphanet_85279 Syndromic X-linked intellectual disability Claes-Jensen type MONDO:MONDO:0010355,MedGen:C1845243,OMIM:300534,Orphanet:85279 91 91 1.0000 condition_architecture_interpretable 20 0 20 Syndromic_X-linked_intellectual_disability_Claes-Jensen_type 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 91 91 1.0000 condition_record_support_limited 20 91 75 not_provided 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 91 91 1.0000 condition_record_support_limited 20 91 68 not_provided|not_specified 360 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXO11 mondo_mondo_0060760_medgen_c4748135_omim_618089 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities MONDO:MONDO:0060760,MedGen:C4748135,OMIM:618089 91 91 1.0000 condition_architecture_interpretable 20 0 15 Intellectual_developmental_disorder_with_dysmorphic_facies_and_behavioral_abnormalities 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP250 condition_not_provided condition not provided MedGen:C3661900 91 91 1.0000 condition_record_support_limited 20 91 17 not_provided 102 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATP6V1B1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 91 91 1.0000 condition_record_support_limited 20 91 45 not_provided 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 91 91 1.0000 condition_record_support_limited 20 91 42 not_provided|not_specified 234 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture VHL condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 90 90 1.0000 condition_record_support_limited 20 90 84 See_cases|not_provided|not_specified 432 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SPINK5 human_phenotype_ontology_hp_0025810_mondo_mondo_0043106_medgen_c0265962 Ichthyosis linearis circumflexa Human_Phenotype_Ontology:HP:0025810,MONDO:MONDO:0043106,MedGen:C0265962 90 90 1.0000 condition_architecture_interpretable 20 0 36 Ichthyosis_linearis_circumflexa 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POR mondo_mondo_0013310_medgen_c1860042_omim_613571_orphanet_95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency MONDO:MONDO:0013310,MedGen:C1860042,OMIM:613571,Orphanet:95699 90 90 1.0000 condition_architecture_interpretable 20 0 33 Congenital_adrenal_hyperplasia_due_to_cytochrome_P450_oxidoreductase_deficiency 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNKP mondo_mondo_0013389_medgen_c3150988_omim_613722 Developmental and epileptic encephalopathy, 12 MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722 90 90 1.0000 condition_architecture_interpretable 20 0 31 Developmental_and_epileptic_encephalopathy,_12 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NBN condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 90 90 1.0000 condition_record_support_limited 20 90 77 not_provided|not_specified 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control KDM6B mondo_mondo_0032790_medgen_c5193134_omim_618505 Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities MONDO:MONDO:0032790,MedGen:C5193134,OMIM:618505 90 90 1.0000 condition_architecture_interpretable 20 0 20 Neurodevelopmental_disorder_with_coarse_facies_and_mild_distal_skeletal_abnormalities 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNPTG mondo_mondo_0009652_medgen_c1854896_omim_252605_orphanet_423470_orphanet_577 GNPTG-mucolipidosis MONDO:MONDO:0009652,MedGen:C1854896,OMIM:252605,Orphanet:423470,Orphanet:577 90 90 1.0000 condition_architecture_interpretable 20 0 41 GNPTG-mucolipidosis 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLNA condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 90 90 1.0000 condition_record_support_limited 20 90 35 See_cases|not_provided|not_specified 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FIG4 mondo_mondo_0018995_medgen_c4082197_orphanet_64749 Charcot-Marie-Tooth disease type 4 MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749 90 90 1.0000 condition_architecture_interpretable 20 0 38 Charcot-Marie-Tooth_disease_type_4 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCL mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 Fanconi anemia MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 90 90 1.0000 condition_architecture_interpretable 20 0 34 Fanconi_anemia 120 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCC mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 90 90 1.0000 condition_architecture_interpretable 20 0 75 Hereditary_cancer-predisposing_syndrome 301 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC6 mondo_mondo_0008955_medgen_c0220722_omim_214150 Cerebrooculofacioskeletal syndrome 1 MONDO:MONDO:0008955,MedGen:C0220722,OMIM:214150 90 90 1.0000 condition_architecture_interpretable 20 0 84 Cerebrooculofacioskeletal_syndrome_1 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIS3L2 mondo_mondo_0009965_medgen_c0796113_omim_267000_orphanet_2849 Perlman syndrome MONDO:MONDO:0009965,MedGen:C0796113,OMIM:267000,Orphanet:2849 90 90 1.0000 condition_architecture_interpretable 20 0 3 Perlman_syndrome 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDC mondo_mondo_0012084_medgen_c1291564_omim_608643_orphanet_35708 Deficiency of aromatic-L-amino-acid decarboxylase MONDO:MONDO:0012084,MedGen:C1291564,OMIM:608643,Orphanet:35708 90 90 1.0000 condition_architecture_interpretable 20 0 13 Deficiency_of_aromatic-L-amino-acid_decarboxylase 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPT2 mondo_mondo_0010914_medgen_c1833511_omim_600649_orphanet_228305 Carnitine palmitoyl transferase II deficiency, severe infantile form MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305 90 90 1.0000 condition_architecture_interpretable 20 0 76 Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP290 cep290_related_disorder CEP290-related disorder MedGen:CN239314 90 90 1.0000 condition_architecture_interpretable 20 0 85 CEP290-related_disorder 949 large_gene_or_donor_burden_stress_case donor_burden_stress ABCC8 mondo_mondo_0009415_medgen_c0271714_omim_240800 Leucine-induced hypoglycemia MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800 90 90 1.0000 condition_architecture_interpretable 20 0 89 Leucine-induced_hypoglycemia 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WT1 mondo_mondo_0008679_medgen_cn033288_omim_194070_orphanet_654 Wilms tumor 1 MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070,Orphanet:654 89 89 1.0000 condition_architecture_interpretable 20 0 73 Wilms_tumor_1 153 compact_adjacent_exon_block_opportunity local_compact_architecture RB1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 89 89 1.0000 condition_record_support_limited 20 89 74 not_provided|not_specified 947 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NR2E3 mondo_mondo_0100288_medgen_c1849394_omim_ps268100_orphanet_53540 Enhanced S-cone syndrome MONDO:MONDO:0100288,MedGen:C1849394,OMIM:PS268100,Orphanet:53540 89 89 1.0000 condition_architecture_interpretable 20 0 57 Enhanced_S-cone_syndrome 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NKX2-5 mondo_mondo_0007173_medgen_c3276096_omim_108900_orphanet_1479 Atrial septal defect 7 MONDO:MONDO:0007173,MedGen:C3276096,OMIM:108900,Orphanet:1479 89 89 1.0000 condition_architecture_interpretable 20 0 15 Atrial_septal_defect_7 125 compact_adjacent_exon_block_opportunity local_compact_architecture MLH1 mondo_mondo_0018630_medgen_c1333990_omim_ps120435_orphanet_443909 Hereditary nonpolyposis colon cancer MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:443909 89 89 1.0000 condition_architecture_interpretable 20 0 77 Hereditary_nonpolyposis_colon_cancer 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control LPL mondo_mondo_0009387_medgen_c0023817_omim_238600_orphanet_309015_orphanet_444490 Hyperlipoproteinemia, type I MONDO:MONDO:0009387,MedGen:C0023817,OMIM:238600,Orphanet:309015,Orphanet:444490 89 89 1.0000 condition_architecture_interpretable 20 0 54 Hyperlipoproteinemia,_type_I 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMC3 condition_not_provided condition not provided MedGen:C3661900 89 89 1.0000 condition_record_support_limited 20 89 9 not_provided 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPR143 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 89 89 1.0000 condition_record_support_limited 20 89 24 not_provided 112 compact_adjacent_exon_block_opportunity local_compact_architecture GBA1 mondo_mondo_0009265_medgen_c1961835_omim_230800_orphanet_355_orphanet_77259 Gaucher disease type I MONDO:MONDO:0009265,MedGen:C1961835,OMIM:230800,Orphanet:355,Orphanet:77259 89 89 1.0000 condition_architecture_interpretable 20 0 66 Gaucher_disease_type_I 360 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC condition_not_provided condition not provided MedGen:C3661900 89 89 1.0000 condition_record_support_limited 20 89 73 not_provided 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRG2 medgen_c1843244_orphanet_64280 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 MedGen:C1843244,Orphanet:64280 89 89 1.0000 condition_architecture_interpretable 20 0 89 EPILEPSY,_CHILDHOOD_ABSENCE,_SUSCEPTIBILITY_TO,_2 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 89 89 1.0000 condition_record_support_limited 20 89 27 See_cases|not_provided 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS9 mondo_mondo_0014437_medgen_c1859567_omim_615986_orphanet_110 Bardet-Biedl syndrome 9 MONDO:MONDO:0014437,MedGen:C1859567,OMIM:615986,Orphanet:110 89 89 1.0000 condition_architecture_interpretable 20 0 40 Bardet-Biedl_syndrome_9 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFG2A mondo_mondo_0014698_medgen_c4225276_omim_616577_orphanet_457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome MONDO:MONDO:0014698,MedGen:C4225276,OMIM:616577,Orphanet:457351 89 89 1.0000 condition_architecture_interpretable 20 0 21 Microcephaly-intellectual_disability-sensorineural_hearing_loss-epilepsy-abnormal_muscle_tone_syndrome 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UMOD mondo_mondo_0008073_medgen_c4551496_omim_162000_orphanet_209886_orphanet_34149_orphanet_88950 Familial juvenile hyperuricemic nephropathy type 1 MONDO:MONDO:0008073,MedGen:C4551496,OMIM:162000,Orphanet:209886,Orphanet:34149,Orphanet:88950 88 88 1.0000 condition_architecture_interpretable 20 0 23 Familial_juvenile_hyperuricemic_nephropathy_type_1 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSEN1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 88 88 1.0000 condition_record_support_limited 20 88 70 not_provided 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKLR condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 88 88 1.0000 condition_record_support_limited 20 88 29 not_provided|not_specified 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX10 medgen_c1864399 Peroxisome biogenesis disorder, complementation group 7 MedGen:C1864399 88 88 1.0000 condition_architecture_interpretable 20 0 45 Peroxisome_biogenesis_disorder,_complementation_group_7 142 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NOTCH1 mondo_mondo_0014459_medgen_c4014970_omim_616028_orphanet_974 Adams-Oliver syndrome 5 MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028,Orphanet:974 88 88 1.0000 condition_architecture_interpretable 20 0 27 Adams-Oliver_syndrome_5 163 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MCM3AP condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 88 88 1.0000 condition_record_support_limited 20 88 4 not_provided 107 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture KAT6A condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 88 88 1.0000 condition_record_support_limited 20 88 22 See_cases|not_provided 191 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture IMPG2 condition_not_provided condition not provided MedGen:C3661900 88 88 1.0000 condition_record_support_limited 20 88 32 not_provided 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HADHB mondo_mondo_0012172_medgen_c1969443_omim_ps609015_orphanet_746 Mitochondrial trifunctional protein deficiency MONDO:MONDO:0012172,MedGen:C1969443,OMIM:PS609015,Orphanet:746 88 88 1.0000 condition_architecture_interpretable 20 0 27 Mitochondrial_trifunctional_protein_deficiency 101 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI3 mondo_mondo_0007804_medgen_c0265220_omim_146510_orphanet_672 Pallister-Hall syndrome MONDO:MONDO:0007804,MedGen:C0265220,OMIM:146510,Orphanet:672 88 88 1.0000 condition_architecture_interpretable 20 0 77 Pallister-Hall_syndrome 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAT1 mondo_mondo_0013784_medgen_c3281029_omim_614498_orphanet_435845 Neonatal-onset encephalopathy with rigidity and seizures MONDO:MONDO:0013784,MedGen:C3281029,OMIM:614498,Orphanet:435845 88 88 1.0000 condition_architecture_interpretable 20 0 22 Neonatal-onset_encephalopathy_with_rigidity_and_seizures 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASNS mondo_mondo_0014258_medgen_c3809971_omim_615574_orphanet_391376 Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574,Orphanet:391376 88 88 1.0000 condition_architecture_interpretable 20 0 41 Congenital_microcephaly_-_severe_encephalopathy_-_progressive_cerebral_atrophy_syndrome 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO5 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 88 88 1.0000 condition_record_support_limited 20 88 64 See_cases|not_provided 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADNP condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 88 88 1.0000 condition_record_support_limited 20 88 25 See_cases|not_provided 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACADVL condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 88 88 1.0000 condition_record_support_limited 20 88 82 not_provided|not_specified 513 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZDHHC24 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 87 87 1.0000 condition_architecture_interpretable 20 0 53 Bardet-Biedl_syndrome 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTLL5 condition_not_provided condition not provided MedGen:C3661900 87 87 1.0000 condition_record_support_limited 20 87 17 not_provided 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNXB mondo_mondo_0011670_medgen_c1848029_omim_606408_orphanet_230839 Ehlers-Danlos syndrome due to tenascin-X deficiency MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839 87 87 1.0000 condition_architecture_interpretable 20 0 60 Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency 142 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RS1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 87 87 1.0000 condition_architecture_interpretable 20 0 58 Retinal_dystrophy 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLEC mondo_mondo_0013390_medgen_c3150989_omim_613723_orphanet_254361 Autosomal recessive limb-girdle muscular dystrophy type 2Q MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361 87 87 1.0000 condition_architecture_interpretable 20 0 87 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q 154 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKP2 mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 Arrhythmogenic right ventricular cardiomyopathy MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 87 87 1.0000 condition_architecture_interpretable 20 0 67 Arrhythmogenic_right_ventricular_cardiomyopathy 344 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MRE11 mondo_mondo_0011457_medgen_c1858391_omim_ps604391 Ataxia-telangiectasia-like disorder MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391 87 87 1.0000 condition_architecture_interpretable 20 0 56 Ataxia-telangiectasia-like_disorder 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MKS1 mondo_mondo_0009571_medgen_c3714506_omim_249000_orphanet_564 Meckel syndrome, type 1 MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000,Orphanet:564 87 87 1.0000 condition_architecture_interpretable 20 0 73 Meckel_syndrome,_type_1 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA1 mondo_mondo_0007029_medgen_c0265234_omim_ps113650_orphanet_107 Melnick-Fraser syndrome MONDO:MONDO:0007029,MedGen:C0265234,OMIM:PS113650,Orphanet:107 87 87 1.0000 condition_architecture_interpretable 20 0 30 Melnick-Fraser_syndrome 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC8 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 87 87 1.0000 condition_record_support_limited 20 87 43 not_provided|not_specified 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EMC1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 87 87 1.0000 condition_record_support_limited 20 87 16 not_provided|not_specified 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOCK7 mondo_mondo_0014371_medgen_c4014492_omim_615859_orphanet_411986 Developmental and epileptic encephalopathy, 23 MONDO:MONDO:0014371,MedGen:C4014492,OMIM:615859,Orphanet:411986 87 87 1.0000 condition_architecture_interpretable 20 0 4 Developmental_and_epileptic_encephalopathy,_23 111 large_gene_or_donor_burden_stress_case donor_burden_stress CYBB condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 87 87 1.0000 condition_record_support_limited 20 87 47 not_provided 206 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN5 mondo_mondo_0010225_medgen_c1848336_omim_300009_orphanet_1652_orphanet_93622 Dent disease type 1 MONDO:MONDO:0010225,MedGen:C1848336,OMIM:300009,Orphanet:1652,Orphanet:93622 87 87 1.0000 condition_architecture_interpretable 20 0 45 Dent_disease_type_1 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHM human_phenotype_ontology_hp_0001139_mondo_mondo_0010557_medgen_c0008525_omim_303100_orphanet_180 Choroideremia Human_Phenotype_Ontology:HP:0001139,MONDO:MONDO:0010557,MedGen:C0008525,OMIM:303100,Orphanet:180 87 87 1.0000 condition_architecture_interpretable 20 0 44 Choroideremia 314 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 Autosomal recessive limb-girdle muscular dystrophy MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 87 87 1.0000 condition_architecture_interpretable 20 0 82 Autosomal_recessive_limb-girdle_muscular_dystrophy 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCKDHB mondo_mondo_0023691_medgen_c1855369_omim_248600 Maple syrup urine disease type 1A MONDO:MONDO:0023691,MedGen:C1855369,OMIM:248600 87 87 1.0000 condition_architecture_interpretable 20 0 75 Maple_syrup_urine_disease_type_1A 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALS2 mondo_mondo_0011797_medgen_c2931441_omim_607225_orphanet_293168 Infantile-onset ascending hereditary spastic paralysis MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225,Orphanet:293168 87 87 1.0000 condition_architecture_interpretable 20 0 24 Infantile-onset_ascending_hereditary_spastic_paralysis 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRG1 condition_not_provided condition not provided MedGen:C3661900 87 87 1.0000 condition_record_support_limited 20 87 36 not_provided 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VRK1 gene_100852400_mondo_mondo_0011866_medgen_c1843504_omim_607596_orphanet_2254_orphanet_88616 Pontocerebellar hypoplasia type 1A Gene:100852400,MONDO:MONDO:0011866,MedGen:C1843504,OMIM:607596,Orphanet:2254,Orphanet:88616 86 86 1.0000 condition_architecture_interpretable 20 0 26 Pontocerebellar_hypoplasia_type_1A 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR2 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 86 86 1.0000 condition_architecture_interpretable 20 0 33 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 130 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAFAZZIN mondo_mondo_0010543_medgen_c0574083_omim_302060_orphanet_111 3-Methylglutaconic aciduria type 2 MONDO:MONDO:0010543,MedGen:C0574083,OMIM:302060,Orphanet:111 86 86 1.0000 condition_architecture_interpretable 20 0 19 3-Methylglutaconic_aciduria_type_2 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SRD5A2 mondo_mondo_0009923_medgen_c0268297_omim_264600_orphanet_753 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600,Orphanet:753 86 86 1.0000 condition_architecture_interpretable 20 0 25 3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_deficiency 89 compact_adjacent_exon_block_opportunity local_compact_architecture RYR2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 86 86 1.0000 condition_record_support_limited 20 86 50 not_provided|not_specified 254 large_gene_or_donor_burden_stress_case donor_burden_stress POU3F4 mondo_mondo_0010576_medgen_c1844678_omim_304400_orphanet_383 X-linked mixed hearing loss with perilymphatic gusher MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400,Orphanet:383 86 86 1.0000 condition_architecture_interpretable 20 0 5 X-linked_mixed_hearing_loss_with_perilymphatic_gusher 107 single_exon_hotspot_opportunity local_compact_architecture PLEC mondo_mondo_0007555_medgen_c0432317_omim_131950_orphanet_79401 Epidermolysis bullosa simplex, Ogna type MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401 86 86 1.0000 condition_architecture_interpretable 20 0 86 Epidermolysis_bullosa_simplex,_Ogna_type 154 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MTHFR mondo_mondo_0011120_medgen_c1866558_omim_601634_orphanet_823 Neural tube defects, folate-sensitive MONDO:MONDO:0011120,MedGen:C1866558,OMIM:601634,Orphanet:823 86 86 1.0000 condition_architecture_interpretable 20 0 60 Neural_tube_defects,_folate-sensitive 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EP300 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 86 86 1.0000 condition_record_support_limited 20 86 21 See_cases|not_provided 264 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSG2 mondo_mondo_0012434_medgen_c1857777_omim_610193 Arrhythmogenic right ventricular dysplasia 10 MONDO:MONDO:0012434,MedGen:C1857777,OMIM:610193 86 86 1.0000 condition_architecture_interpretable 20 0 29 Arrhythmogenic_right_ventricular_dysplasia_10 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CP human_phenotype_ontology_hp_0025498_mondo_mondo_0011426_medgen_c0878682_omim_604290_orphanet_48818 Deficiency of ferroxidase Human_Phenotype_Ontology:HP:0025498,MONDO:MONDO:0011426,MedGen:C0878682,OMIM:604290,Orphanet:48818 86 86 1.0000 condition_architecture_interpretable 20 0 17 Deficiency_of_ferroxidase 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL1A2 mondo_mondo_0008147_medgen_c0268358_omim_166210_orphanet_216804 Osteogenesis imperfecta, perinatal lethal MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210,Orphanet:216804 86 86 1.0000 condition_architecture_interpretable 20 0 52 Osteogenesis_imperfecta,_perinatal_lethal 722 large_gene_or_donor_burden_stress_case donor_burden_stress CHD2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 86 86 1.0000 condition_record_support_limited 20 86 33 not_provided|not_specified 368 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BCS1L mondo_mondo_0011308_medgen_c1864002_omim_603358_orphanet_53693 GRACILE syndrome MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358,Orphanet:53693 86 86 1.0000 condition_architecture_interpretable 20 0 64 GRACILE_syndrome 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS9 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 86 86 1.0000 condition_architecture_interpretable 20 0 43 Bardet-Biedl_syndrome 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADNP mondo_mondo_0014379_medgen_c4014538_omim_615873_orphanet_404448 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder MONDO:MONDO:0014379,MedGen:C4014538,OMIM:615873,Orphanet:404448 86 86 1.0000 condition_architecture_interpretable 20 0 29 ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA4 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 86 86 1.0000 condition_architecture_interpretable 20 0 80 Retinitis_pigmentosa 1464 large_gene_or_donor_burden_stress_case donor_burden_stress TUBA1A mondo_mondo_0012703_medgen_c4305153_omim_611603_orphanet_171680 Lissencephaly due to TUBA1A mutation MONDO:MONDO:0012703,MedGen:C4305153,OMIM:611603,Orphanet:171680 85 85 1.0000 condition_architecture_interpretable 20 0 48 Lissencephaly_due_to_TUBA1A_mutation 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 85 85 1.0000 condition_record_support_limited 20 85 81 not_provided|not_specified 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX3 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 85 85 1.0000 condition_record_support_limited 20 85 28 See_cases|not_provided 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MOCS1 mondo_mondo_0009643_medgen_c1854988_omim_252150_orphanet_308386_orphanet_833 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MONDO:MONDO:0009643,MedGen:C1854988,OMIM:252150,Orphanet:308386,Orphanet:833 85 85 1.0000 condition_architecture_interpretable 20 0 7 Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_A 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT122 mondo_mondo_0021093_medgen_c0432235_omim_218330_orphanet_1515 Cranioectodermal dysplasia 1 MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330,Orphanet:1515 85 85 1.0000 condition_architecture_interpretable 20 0 9 Cranioectodermal_dysplasia_1 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 mondo_mondo_0010298_medgen_c0023374_omim_300322_orphanet_510 Lesch-Nyhan syndrome MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510 85 85 1.0000 condition_architecture_interpretable 20 0 58 Lesch-Nyhan_syndrome 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCH1 mondo_mondo_0007495_medgen_c1851920_omim_128230_orphanet_98808 Dystonia 5 MONDO:MONDO:0007495,MedGen:C1851920,OMIM:128230,Orphanet:98808 85 85 1.0000 condition_architecture_interpretable 20 0 67 Dystonia_5 113 compact_adjacent_exon_block_opportunity local_compact_architecture GAREM2 mondo_mondo_0012172_medgen_c1969443_omim_ps609015_orphanet_746 Mitochondrial trifunctional protein deficiency MONDO:MONDO:0012172,MedGen:C1969443,OMIM:PS609015,Orphanet:746 85 85 1.0000 condition_architecture_interpretable 20 0 84 Mitochondrial_trifunctional_protein_deficiency 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP mondo_mondo_0013157_medgen_c3150413_omim_613153_orphanet_588_orphanet_899 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153,Orphanet:588,Orphanet:899 85 85 1.0000 condition_architecture_interpretable 20 0 66 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F9 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 85 85 1.0000 condition_record_support_limited 20 85 51 not_provided|not_specified 299 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD40LG mondo_mondo_0010626_medgen_c0398689_omim_308230_orphanet_101088 Hyper-IgM syndrome type 1 MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088 85 85 1.0000 condition_architecture_interpretable 20 0 12 Hyper-IgM_syndrome_type_1 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA2 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 85 85 1.0000 condition_architecture_interpretable 20 0 69 Gastric_cancer 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BBS7 mondo_mondo_0014435_medgen_c1859565_omim_615984_orphanet_110 Bardet-Biedl syndrome 7 MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984,Orphanet:110 85 85 1.0000 condition_architecture_interpretable 20 0 38 Bardet-Biedl_syndrome_7 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALMS1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 85 85 1.0000 condition_architecture_interpretable 20 0 74 Cardiovascular_phenotype 999 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZNF276 mondo_mondo_0009215_medgen_c3469521_omim_227650_orphanet_84 Fanconi anemia complementation group A MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84 84 84 1.0000 condition_architecture_interpretable 20 0 45 Fanconi_anemia_complementation_group_A 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPM1 condition_not_provided condition not provided MedGen:C3661900 84 84 1.0000 condition_record_support_limited 20 84 19 not_provided 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 mondo_mondo_0011821_medgen_c1846357_omim_607361_orphanet_564 Meckel syndrome, type 3 MONDO:MONDO:0011821,MedGen:C1846357,OMIM:607361,Orphanet:564 84 84 1.0000 condition_architecture_interpretable 20 0 61 Meckel_syndrome,_type_3 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX5 mondo_mondo_0007732_medgen_c0265264_omim_142900_orphanet_392 Holt-Oram syndrome MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900,Orphanet:392 84 84 1.0000 condition_architecture_interpretable 20 0 23 Holt-Oram_syndrome 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAR mondo_mondo_0008725_medgen_c0342474_omim_201710_orphanet_418_orphanet_90790 Congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:MONDO:0008725,MedGen:C0342474,OMIM:201710,Orphanet:418,Orphanet:90790 84 84 1.0000 condition_architecture_interpretable 20 0 40 Congenital_lipoid_adrenal_hyperplasia_due_to_STAR_deficency 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC45A2 condition_not_provided condition not provided MedGen:C3661900 84 84 1.0000 condition_record_support_limited 20 84 31 not_provided 112 compact_adjacent_exon_block_opportunity local_compact_architecture SEC23B mondo_mondo_0009134_medgen_c1306589_omim_224100_orphanet_98873 Congenital dyserythropoietic anemia, type II MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100,Orphanet:98873 84 84 1.0000 condition_architecture_interpretable 20 0 74 Congenital_dyserythropoietic_anemia,_type_II 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RP1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 84 84 1.0000 condition_architecture_interpretable 20 0 50 Retinal_dystrophy 334 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RAPSN mondo_mondo_0014588_medgen_c4225367_omim_616326_orphanet_590 Congenital myasthenic syndrome 11 MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326,Orphanet:590 84 84 1.0000 condition_architecture_interpretable 20 0 81 Congenital_myasthenic_syndrome_11 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PURA condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 84 84 1.0000 condition_record_support_limited 20 84 29 See_cases|not_provided 218 single_exon_hotspot_opportunity local_compact_architecture PDZD7 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 84 84 1.0000 condition_record_support_limited 20 84 14 not_provided 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6A condition_not_provided condition not provided MedGen:C3661900 84 84 1.0000 condition_record_support_limited 20 84 34 not_provided 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIX mondo_mondo_0013885_medgen_c3553660_omim_614753_orphanet_420179 Malan overgrowth syndrome MONDO:MONDO:0013885,MedGen:C3553660,OMIM:614753,Orphanet:420179 84 84 1.0000 condition_architecture_interpretable 20 0 44 Malan_overgrowth_syndrome 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NALCN condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 84 84 1.0000 condition_record_support_limited 20 84 26 See_cases|not_provided|not_specified 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH7 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 84 84 1.0000 condition_architecture_interpretable 20 0 81 Cardiomyopathy 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MKS1 mondo_mondo_0014441_medgen_c2673873_omim_615990_orphanet_110 Bardet-Biedl syndrome 13 MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990,Orphanet:110 84 84 1.0000 condition_architecture_interpretable 20 0 71 Bardet-Biedl_syndrome_13 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LTBP3 mondo_mondo_0011018_medgen_c1832594_omim_601216_orphanet_2899 Brachyolmia-amelogenesis imperfecta syndrome MONDO:MONDO:0011018,MedGen:C1832594,OMIM:601216,Orphanet:2899 84 84 1.0000 condition_architecture_interpretable 20 0 6 Brachyolmia-amelogenesis_imperfecta_syndrome 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMB2 mondo_mondo_0012184_medgen_c1836876_omim_609049_orphanet_2670 Pierson syndrome MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049,Orphanet:2670 84 84 1.0000 condition_architecture_interpretable 20 0 71 Pierson_syndrome 108 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIT human_phenotype_ontology_hp_0100723_mondo_mondo_0011719_mesh_d046152_medgen_c0238198_omim_606764_orphanet_44890 Gastrointestinal stromal tumor Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890 84 84 1.0000 condition_architecture_interpretable 20 0 15 Gastrointestinal_stromal_tumor 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAS mondo_mondo_0011158_medgen_c1328840_omim_601859_orphanet_3261 Autoimmune lymphoproliferative syndrome type 1 MONDO:MONDO:0011158,MedGen:C1328840,OMIM:601859,Orphanet:3261 84 84 1.0000 condition_architecture_interpretable 20 0 18 Autoimmune_lymphoproliferative_syndrome_type_1 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC6 mondo_mondo_0010217_medgen_c0265201_omim_278800 DE SANCTIS-CACCHIONE SYNDROME MONDO:MONDO:0010217,MedGen:C0265201,OMIM:278800 84 84 1.0000 condition_architecture_interpretable 20 0 84 DE_SANCTIS-CACCHIONE_SYNDROME 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP11B2 condition_not_provided condition not provided MedGen:C3661900 84 84 1.0000 condition_record_support_limited 20 84 41 not_provided 131 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRB1 mondo_mondo_0008246_medgen_c1868310_omim_172870_orphanet_251295 Pigmented paravenous retinochoroidal atrophy MONDO:MONDO:0008246,MedGen:C1868310,OMIM:172870,Orphanet:251295 84 84 1.0000 condition_architecture_interpretable 20 0 81 Pigmented_paravenous_retinochoroidal_atrophy 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKN1B mondo_mondo_0012552_medgen_c1970712_omim_610755_orphanet_276152 Multiple endocrine neoplasia type 4 MONDO:MONDO:0012552,MedGen:C1970712,OMIM:610755,Orphanet:276152 84 84 1.0000 condition_architecture_interpretable 20 0 28 Multiple_endocrine_neoplasia_type_4 114 compact_adjacent_exon_block_opportunity local_compact_architecture CCDC40 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 84 84 1.0000 condition_architecture_interpretable 20 0 21 Primary_ciliary_dyskinesia 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BARD1 condition_not_provided condition not provided MedGen:C3661900 84 84 1.0000 condition_record_support_limited 20 84 79 not_provided 610 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACADS mondo_mondo_0008722_medgen_c0342783_omim_201470_orphanet_26792 Deficiency of butyryl-CoA dehydrogenase MONDO:MONDO:0008722,MedGen:C0342783,OMIM:201470,Orphanet:26792 84 84 1.0000 condition_architecture_interpretable 20 0 27 Deficiency_of_butyryl-CoA_dehydrogenase 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WT1 mondo_mondo_0008682_medgen_c0950121_omim_194080_orphanet_220 Drash syndrome MONDO:MONDO:0008682,MedGen:C0950121,OMIM:194080,Orphanet:220 83 83 1.0000 condition_architecture_interpretable 20 0 76 Drash_syndrome 153 compact_adjacent_exon_block_opportunity local_compact_architecture TUBA1A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 83 83 1.0000 condition_record_support_limited 20 83 56 not_provided 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRMU mondo_mondo_0013111_medgen_c3278664_omim_613070_orphanet_217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070,Orphanet:217371 83 83 1.0000 condition_architecture_interpretable 20 0 55 Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPO condition_not_provided condition not provided MedGen:C3661900 83 83 1.0000 condition_record_support_limited 20 83 28 not_provided 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP53 mondo_mondo_0008734_medgen_c1859972_omim_202300_orphanet_1501 Adrenocortical carcinoma, hereditary MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501 83 83 1.0000 condition_architecture_interpretable 20 0 79 Adrenocortical_carcinoma,_hereditary 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RELN mondo_mondo_0009760_medgen_c0796089_omim_257320_orphanet_89844 Norman-Roberts syndrome MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844 83 83 1.0000 condition_architecture_interpretable 20 0 66 Norman-Roberts_syndrome 117 large_gene_or_donor_burden_stress_case donor_burden_stress POGZ condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 83 83 1.0000 condition_record_support_limited 20 83 27 not_provided 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAFAH1B1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 83 83 1.0000 condition_record_support_limited 20 83 36 not_provided|not_specified 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP1 human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Nephronophthisis Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 83 83 1.0000 condition_architecture_interpretable 20 0 35 Nephronophthisis 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MRE11 mondo_mondo_0024557_medgen_c4012790_omim_604391_orphanet_251347 Ataxia-telangiectasia-like disorder 1 MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391,Orphanet:251347 83 83 1.0000 condition_architecture_interpretable 20 0 55 Ataxia-telangiectasia-like_disorder_1 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEF2C mondo_mondo_0013266_medgen_c3150700_omim_613443_orphanet_228384_orphanet_664410 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410 83 83 1.0000 condition_architecture_interpretable 20 0 17 Neurodevelopmental_disorder_with_hypotonia,_stereotypic_hand_movements,_and_impaired_language 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMA3 mondo_mondo_0009182_medgen_c0079683_omim_226700_orphanet_79404 Junctional epidermolysis bullosa gravis of Herlitz MONDO:MONDO:0009182,MedGen:C0079683,OMIM:226700,Orphanet:79404 83 83 1.0000 condition_architecture_interpretable 20 0 33 Junctional_epidermolysis_bullosa_gravis_of_Herlitz 266 large_gene_or_donor_burden_stress_case donor_burden_stress KIF7 mondo_mondo_0008708_medgen_c0796147_omim_200990_orphanet_36 Acrocallosal syndrome MONDO:MONDO:0008708,MedGen:C0796147,OMIM:200990,Orphanet:36 83 83 1.0000 condition_architecture_interpretable 20 0 38 Acrocallosal_syndrome 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2B5 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 83 83 1.0000 condition_record_support_limited 20 83 36 See_cases|not_provided 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNE mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 Congenital myasthenic syndrome MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 83 83 1.0000 condition_architecture_interpretable 20 0 66 Congenital_myasthenic_syndrome 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 mondo_mondo_0012539_medgen_c1853153_omim_610688_orphanet_475 Joubert syndrome 6 MONDO:MONDO:0012539,MedGen:C1853153,OMIM:610688,Orphanet:475 82 82 1.0000 condition_architecture_interpretable 20 0 66 Joubert_syndrome_6 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHD mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 82 82 1.0000 condition_architecture_interpretable 20 0 62 Hereditary_cancer-predisposing_syndrome 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROP1 mondo_mondo_0009878_medgen_c0878683_omim_262600 Pituitary hormone deficiency, combined, 2 MONDO:MONDO:0009878,MedGen:C0878683,OMIM:262600 82 82 1.0000 condition_architecture_interpretable 20 0 27 Pituitary_hormone_deficiency,_combined,_2 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HBB mondo_mondo_0011381_medgen_c1858990_omim_603902_orphanet_231226_orphanet_848 Dominant beta-thalassemia MONDO:MONDO:0011381,MedGen:C1858990,OMIM:603902,Orphanet:231226,Orphanet:848 82 82 1.0000 condition_architecture_interpretable 20 0 79 Dominant_beta-thalassemia 428 compact_adjacent_exon_block_opportunity local_compact_architecture FUCA1 mondo_mondo_0009254_medgen_c0016788_omim_230000_orphanet_349 Fucosidosis MONDO:MONDO:0009254,MedGen:C0016788,OMIM:230000,Orphanet:349 82 82 1.0000 condition_architecture_interpretable 20 0 8 Fucosidosis 87 compact_adjacent_exon_block_opportunity local_compact_architecture FBXL5 mondo_mondo_0012848_medgen_c2676790_omim_612284_orphanet_564 Meckel syndrome, type 6 MONDO:MONDO:0012848,MedGen:C2676790,OMIM:612284,Orphanet:564 82 82 1.0000 condition_architecture_interpretable 20 0 71 Meckel_syndrome,_type_6 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ESCO2 mondo_mondo_0100253_medgen_c0392475_omim_268300_orphanet_3103 Roberts-SC phocomelia syndrome MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103 82 82 1.0000 condition_architecture_interpretable 20 0 62 Roberts-SC_phocomelia_syndrome 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DEPDC5 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 82 82 1.0000 condition_record_support_limited 20 82 47 See_cases|not_provided 382 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCX medgen_c0008519 Ectopic tissue MedGen:C0008519 82 82 1.0000 condition_architecture_interpretable 20 0 21 Ectopic_tissue 165 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSC mondo_mondo_0009490_medgen_c0030360_omim_245000_orphanet_678 Papillon-Lefèvre syndrome MONDO:MONDO:0009490,MedGen:C0030360,OMIM:245000,Orphanet:678 82 82 1.0000 condition_architecture_interpretable 20 0 72 Papillon-Lefèvre_syndrome 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A mondo_mondo_0030797_medgen_c5676970_omim_619845 Retinitis pigmentosa 93 MONDO:MONDO:0030797,MedGen:C5676970,OMIM:619845 82 82 1.0000 condition_architecture_interpretable 20 0 81 Retinitis_pigmentosa_93 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAD condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 82 82 1.0000 condition_record_support_limited 20 82 7 not_provided 95 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BRAF condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 82 82 1.0000 condition_record_support_limited 20 82 67 not_provided|not_specified 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS7 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 82 82 1.0000 condition_architecture_interpretable 20 0 38 Bardet-Biedl_syndrome 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATRX mondo_mondo_0010519_medgen_c1845055_omim_301040_orphanet_847 Alpha thalassemia-X-linked intellectual disability syndrome MONDO:MONDO:0010519,MedGen:C1845055,OMIM:301040,Orphanet:847 82 82 1.0000 condition_architecture_interpretable 20 0 29 Alpha_thalassemia-X-linked_intellectual_disability_syndrome 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRIO condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 81 81 1.0000 condition_record_support_limited 20 81 17 See_cases|not_provided 175 large_gene_or_donor_burden_stress_case donor_burden_stress TMC1 condition_not_provided condition not provided MedGen:C3661900 81 81 1.0000 condition_record_support_limited 20 81 28 not_provided 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TG mondo_mondo_0010135_medgen_c0342194_omim_274700_orphanet_95716 Iodotyrosyl coupling defect MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716 81 81 1.0000 condition_architecture_interpretable 20 0 65 Iodotyrosyl_coupling_defect 241 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TBC1D24 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 81 81 1.0000 condition_record_support_limited 20 81 71 not_provided 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUFU mondo_mondo_0007187_medgen_c0004779_omim_ps109400_orphanet_377 Gorlin syndrome MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377 81 81 1.0000 condition_architecture_interpretable 20 0 78 Gorlin_syndrome 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN2A mondo_mondo_0100038_medgen_c5568766_orphanet_528084 Complex neurodevelopmental disorder MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 81 81 1.0000 condition_architecture_interpretable 20 0 64 Complex_neurodevelopmental_disorder 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PAX2 mondo_mondo_0007352_medgen_c1852759_omim_120330_orphanet_1475 Renal coloboma syndrome MONDO:MONDO:0007352,MedGen:C1852759,OMIM:120330,Orphanet:1475 81 81 1.0000 condition_architecture_interpretable 20 0 52 Renal_coloboma_syndrome 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA1 human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 81 81 1.0000 condition_architecture_interpretable 20 0 44 Optic_atrophy 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEK1 mondo_mondo_0009894_medgen_c0024507_omim_263520 Short-rib thoracic dysplasia 6 with or without polydactyly MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520 81 81 1.0000 condition_architecture_interpretable 20 0 20 Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FREM2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 81 81 1.0000 condition_record_support_limited 20 81 14 not_provided 129 compact_adjacent_exon_block_opportunity local_compact_architecture EPHB4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 81 81 1.0000 condition_record_support_limited 20 81 19 not_provided|not_specified 135 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EMD mondo_mondo_0010680_medgen_c0751337_orphanet_261_orphanet_98863 X-linked Emery-Dreifuss muscular dystrophy MONDO:MONDO:0010680,MedGen:C0751337,Orphanet:261,Orphanet:98863 81 81 1.0000 condition_architecture_interpretable 20 0 30 X-linked_Emery-Dreifuss_muscular_dystrophy 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DMD mondo_mondo_0016147_medgen_c5679787_orphanet_207085 Neuromuscular disease caused by qualitative or quantitative defects of dystrophin MONDO:MONDO:0016147,MedGen:C5679787,Orphanet:207085 81 81 1.0000 condition_architecture_interpretable 20 0 66 Neuromuscular_disease_caused_by_qualitative_or_quantitative_defects_of_dystrophin 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DLG4 mondo_mondo_0032919_medgen_c5394083_omim_618793 Intellectual developmental disorder 62 MONDO:MONDO:0032919,MedGen:C5394083,OMIM:618793 81 81 1.0000 condition_architecture_interpretable 20 0 23 Intellectual_developmental_disorder_62 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNA1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 81 81 1.0000 condition_architecture_interpretable 20 0 53 Hereditary_cancer-predisposing_syndrome 233 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRB1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 81 81 1.0000 condition_record_support_limited 20 81 75 not_provided 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 81 81 1.0000 condition_record_support_limited 20 81 52 not_provided|not_specified 194 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGB1 mondo_mondo_0013413_medgen_c3151066_omim_613767_orphanet_791 Retinitis pigmentosa 45 MONDO:MONDO:0013413,MedGen:C3151066,OMIM:613767,Orphanet:791 81 81 1.0000 condition_architecture_interpretable 20 0 46 Retinitis_pigmentosa_45 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDHR1 condition_not_provided condition not provided MedGen:C3661900 81 81 1.0000 condition_record_support_limited 20 81 21 not_provided 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A mondo_mondo_0030859_medgen_c5436837_omim_619111 COACH syndrome 2 MONDO:MONDO:0030859,MedGen:C5436837,OMIM:619111 81 81 1.0000 condition_architecture_interpretable 20 0 81 COACH_syndrome_2 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCOR mondo_mondo_0010261_medgen_c1846265_omim_300166_orphanet_2712 Oculofaciocardiodental syndrome MONDO:MONDO:0010261,MedGen:C1846265,OMIM:300166,Orphanet:2712 81 81 1.0000 condition_architecture_interpretable 20 0 8 Oculofaciocardiodental_syndrome 114 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASAH1 condition_not_provided condition not provided MedGen:C3661900 81 81 1.0000 condition_record_support_limited 20 81 29 not_provided 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHDC1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 81 81 1.0000 condition_record_support_limited 20 81 20 See_cases|not_provided 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADA2 mondo_mondo_0014306_medgen_c3887654_omim_615688_orphanet_404553 Deficiency of adenosine deaminase 2 MONDO:MONDO:0014306,MedGen:C3887654,OMIM:615688,Orphanet:404553 81 81 1.0000 condition_architecture_interpretable 20 0 33 Deficiency_of_adenosine_deaminase_2 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRMU mondo_mondo_0010799_medgen_c1838854_omim_580000_orphanet_168609 Aminoglycoside-induced deafness MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000,Orphanet:168609 80 80 1.0000 condition_architecture_interpretable 20 0 52 Aminoglycoside-induced_deafness 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC19A1 condition_not_provided condition not provided MedGen:C3661900 80 80 1.0000 condition_record_support_limited 20 80 10 not_provided 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRF1 human_phenotype_ontology_hp_0001915_mondo_mondo_0015909_medgen_c0002874_omim_609135_orphanet_182040_orphanet_88 Aplastic anemia Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88 80 80 1.0000 condition_architecture_interpretable 20 0 70 Aplastic_anemia 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG mondo_mondo_0011835_medgen_c1843851_omim_607459_orphanet_70595 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:70595 80 80 1.0000 condition_architecture_interpretable 20 0 76 Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMS2 mondo_mondo_0018630_medgen_c1333990_omim_ps120435_orphanet_443909 Hereditary nonpolyposis colon cancer MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:443909 80 80 1.0000 condition_architecture_interpretable 20 0 75 Hereditary_nonpolyposis_colon_cancer 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MYBPC3 mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 Primary familial hypertrophic cardiomyopathy MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 80 80 1.0000 condition_architecture_interpretable 20 0 70 Primary_familial_hypertrophic_cardiomyopathy 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMUT human_phenotype_ontology_hp_0002912_human_phenotype_ontology_hp_0003123_human_phenotype_ontology_hp_0008295_mondo_mondo_0002012_mesh_c537358_medgen_c0268583_omim_ps251000 Methylmalonic acidemia Human_Phenotype_Ontology:HP:0002912,Human_Phenotype_Ontology:HP:0003123,Human_Phenotype_Ontology:HP:0008295,MONDO:MONDO:0002012,MeSH:C537358,MedGen:C0268583,OMIM:PS251000 80 80 1.0000 condition_architecture_interpretable 20 0 76 Methylmalonic_acidemia 408 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRSAM1 gene_431712_mondo_mondo_0013753_medgen_c3280797_omim_614436_orphanet_300319_orphanet_99941 Charcot-Marie-Tooth disease axonal type 2P Gene:431712,MONDO:MONDO:0013753,MedGen:C3280797,OMIM:614436,Orphanet:300319,Orphanet:99941 80 80 1.0000 condition_architecture_interpretable 20 0 15 Charcot-Marie-Tooth_disease_axonal_type_2P 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSPG2 condition_not_provided condition not provided MedGen:C3661900 80 80 1.0000 condition_record_support_limited 20 80 10 not_provided 116 large_gene_or_donor_burden_stress_case donor_burden_stress GJB2 mondo_mondo_0007852_medgen_c1835672_omim_148350_orphanet_2202 Palmoplantar keratoderma-deafness syndrome MONDO:MONDO:0007852,MedGen:C1835672,OMIM:148350,Orphanet:2202 80 80 1.0000 condition_architecture_interpretable 20 0 78 Palmoplantar_keratoderma-deafness_syndrome 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 mondo_mondo_0007850_medgen_c0265336_omim_148210_orphanet_477 Autosomal dominant keratitis-ichthyosis-hearing loss syndrome MONDO:MONDO:0007850,MedGen:C0265336,OMIM:148210,Orphanet:477 80 80 1.0000 condition_architecture_interpretable 20 0 79 Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPT2 mondo_mondo_0013633_medgen_c3280160_omim_614212_orphanet_263524 Encephalopathy, acute, infection-induced, susceptibility to, 4 MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524 80 80 1.0000 condition_architecture_interpretable 20 0 68 Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 80 80 1.0000 condition_record_support_limited 20 80 41 not_provided 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL5A1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 80 80 1.0000 condition_record_support_limited 20 80 35 not_provided|not_specified 361 large_gene_or_donor_burden_stress_case donor_burden_stress CHD3 mondo_mondo_0032600_medgen_c4748701_omim_618205_orphanet_599082 Snijders Blok-Campeau syndrome MONDO:MONDO:0032600,MedGen:C4748701,OMIM:618205,Orphanet:599082 80 80 1.0000 condition_architecture_interpretable 20 0 27 Snijders_Blok-Campeau_syndrome 122 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CCM2 mondo_mondo_0011304_medgen_c1864041_omim_603284_orphanet_221061 Cerebral cavernous malformation 2 MONDO:MONDO:0011304,MedGen:C1864041,OMIM:603284,Orphanet:221061 80 80 1.0000 condition_architecture_interpretable 20 0 22 Cerebral_cavernous_malformation_2 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCDC88C condition_not_provided condition not provided MedGen:C3661900 80 80 1.0000 condition_record_support_limited 20 80 9 not_provided 113 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BRCA2 inherited_breast_cancer_and_ovarian_cancer Inherited breast cancer and ovarian cancer . 80 80 1.0000 condition_architecture_interpretable 20 0 75 Inherited_breast_cancer_and_ovarian_cancer 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 80 80 1.0000 condition_architecture_interpretable 20 0 58 Gastric_cancer 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ANOS1 mondo_mondo_0010635_medgen_c1563719_omim_308700_orphanet_478 Hypogonadotropic hypogonadism 1 with or without anosmia MONDO:MONDO:0010635,MedGen:C1563719,OMIM:308700,Orphanet:478 80 80 1.0000 condition_architecture_interpretable 20 0 10 Hypogonadotropic_hypogonadism_1_with_or_without_anosmia 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TYRP1 condition_not_provided condition not provided MedGen:C3661900 79 79 1.0000 condition_record_support_limited 20 79 12 not_provided 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUFU human_phenotype_ontology_hp_0002885_mondo_mondo_0007959_mesh_d008527_medgen_c0025149_omim_155255_orphanet_616 Medulloblastoma Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616 79 79 1.0000 condition_architecture_interpretable 20 0 77 Medulloblastoma 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A15 mondo_mondo_0009393_medgen_c0268540_omim_238970_orphanet_415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome MONDO:MONDO:0009393,MedGen:C0268540,OMIM:238970,Orphanet:415 79 79 1.0000 condition_architecture_interpretable 20 0 8 Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 mondo_mondo_0013282_medgen_c0221757_omim_613490_orphanet_60 Alpha-1-antitrypsin deficiency MONDO:MONDO:0013282,MedGen:C0221757,OMIM:613490,Orphanet:60 79 79 1.0000 condition_architecture_interpretable 20 0 20 Alpha-1-antitrypsin_deficiency 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHC mondo_mondo_0011544_medgen_c1854336_omim_605373_orphanet_29072 Pheochromocytoma/paraganglioma syndrome 3 MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373,Orphanet:29072 79 79 1.0000 condition_architecture_interpretable 20 0 70 Pheochromocytoma/paraganglioma_syndrome_3 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHB mondo_mondo_0017366_medgen_c4274332_omim_ps168000_orphanet_29072 Hereditary pheochromocytoma and paraganglioma MONDO:MONDO:0017366,MedGen:C4274332,OMIM:PS168000,Orphanet:29072 79 79 1.0000 condition_architecture_interpretable 20 0 66 Hereditary_pheochromocytoma_and_paraganglioma 280 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN mondo_mondo_0011537_medgen_c1854416_omim_605309_orphanet_210548 Macrocephaly-autism syndrome MONDO:MONDO:0011537,MedGen:C1854416,OMIM:605309,Orphanet:210548 79 79 1.0000 condition_architecture_interpretable 20 0 66 Macrocephaly-autism_syndrome 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control POLG mondo_mondo_0024528_medgen_c1834846_omim_157640 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640 79 79 1.0000 condition_architecture_interpretable 20 0 75 Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP4 mondo_mondo_0011752_medgen_c1847013_omim_606966_orphanet_655 Nephronophthisis 4 MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655 79 79 1.0000 condition_architecture_interpretable 20 0 58 Nephronophthisis_4 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO7A mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 Usher syndrome MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 79 79 1.0000 condition_architecture_interpretable 20 0 68 Usher_syndrome 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MPZ mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 79 79 1.0000 condition_architecture_interpretable 20 0 74 Charcot-Marie-Tooth_disease 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMB2 mondo_mondo_0013621_medgen_c3280113_omim_614199_orphanet_306507 LAMB2-related infantile-onset nephrotic syndrome MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,Orphanet:306507 79 79 1.0000 condition_architecture_interpretable 20 0 70 LAMB2-related_infantile-onset_nephrotic_syndrome 108 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture GATAD1 mondo_mondo_0019609_medgen_c0043459_orphanet_912 Zellweger spectrum disorders MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912 79 79 1.0000 condition_architecture_interpretable 20 0 42 Zellweger_spectrum_disorders 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFTUD2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 79 79 1.0000 condition_record_support_limited 20 79 21 See_cases|not_provided 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF276 mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 Fanconi anemia MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 78 78 1.0000 condition_architecture_interpretable 20 0 46 Fanconi_anemia 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WT1 mondo_mondo_0007635_mesh_d052159_medgen_c0950122_omim_136680_orphanet_347 Frasier syndrome MONDO:MONDO:0007635,MeSH:D052159,MedGen:C0950122,OMIM:136680,Orphanet:347 78 78 1.0000 condition_architecture_interpretable 20 0 74 Frasier_syndrome 153 compact_adjacent_exon_block_opportunity local_compact_architecture USH2A ush2a_related_disorder USH2A-related disorder MedGen:CN239332 78 78 1.0000 condition_architecture_interpretable 20 0 64 USH2A-related_disorder 2100 large_gene_or_donor_burden_stress_case donor_burden_stress TWIST1 mondo_mondo_0007042_medgen_c0175699_omim_101400_orphanet_794 Saethre-Chotzen syndrome MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400,Orphanet:794 78 78 1.0000 condition_architecture_interpretable 20 0 61 Saethre-Chotzen_syndrome 96 compact_adjacent_exon_block_opportunity local_compact_architecture TRNT1 mondo_mondo_0014487_medgen_c4015172_omim_616084_orphanet_369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome MONDO:MONDO:0014487,MedGen:C4015172,OMIM:616084,Orphanet:369861 78 78 1.0000 condition_architecture_interpretable 20 0 18 Congenital_sideroblastic_anemia-B-cell_immunodeficiency-periodic_fever-developmental_delay_syndrome 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMPRSS3 condition_not_provided condition not provided MedGen:C3661900 78 78 1.0000 condition_record_support_limited 20 78 34 not_provided 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX5 mondo_mondo_0013902_medgen_c3542024_omim_614823 Aortic valve disease 2 MONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823 78 78 1.0000 condition_architecture_interpretable 20 0 23 Aortic_valve_disease_2 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC39A4 mondo_mondo_0008713_medgen_c0221036_omim_201100_orphanet_37 Hereditary acrodermatitis enteropathica MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100,Orphanet:37 78 78 1.0000 condition_architecture_interpretable 20 0 29 Hereditary_acrodermatitis_enteropathica 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A3 mondo_mondo_0008964_medgen_c0267662_omim_214700_orphanet_53689 Congenital secretory diarrhea, chloride type MONDO:MONDO:0008964,MedGen:C0267662,OMIM:214700,Orphanet:53689 78 78 1.0000 condition_architecture_interpretable 20 0 28 Congenital_secretory_diarrhea,_chloride_type 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SHH mondo_mondo_0007733_medgen_c1840529_omim_142945_orphanet_2162 Holoprosencephaly 3 MONDO:MONDO:0007733,MedGen:C1840529,OMIM:142945,Orphanet:2162 78 78 1.0000 condition_architecture_interpretable 20 0 14 Holoprosencephaly_3 125 compact_adjacent_exon_block_opportunity local_compact_architecture RP1 mondo_mondo_0008377_medgen_c0220701_omim_180100_orphanet_791 Retinitis pigmentosa 1 MONDO:MONDO:0008377,MedGen:C0220701,OMIM:180100,Orphanet:791 78 78 1.0000 condition_architecture_interpretable 20 0 46 Retinitis_pigmentosa_1 334 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NEB mondo_mondo_0018958_medgen_c0206157_omim_ps161800_omim_ps256030_orphanet_607 Nemaline myopathy MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,OMIM:PS256030,Orphanet:607 78 78 1.0000 condition_architecture_interpretable 20 0 77 Nemaline_myopathy 1871 large_gene_or_donor_burden_stress_case donor_burden_stress MAK condition_not_provided condition not provided MedGen:C3661900 78 78 1.0000 condition_record_support_limited 20 78 24 not_provided 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMNA mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 Dilated cardiomyopathy 1A MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 78 78 1.0000 condition_architecture_interpretable 20 0 61 Dilated_cardiomyopathy_1A 536 compact_adjacent_exon_block_opportunity local_compact_architecture KRT5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 78 78 1.0000 condition_record_support_limited 20 78 40 not_provided 96 compact_adjacent_exon_block_opportunity local_compact_architecture KIF11 mondo_mondo_0007918_medgen_c1835265_omim_152950_orphanet_2526 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability MONDO:MONDO:0007918,MedGen:C1835265,OMIM:152950,Orphanet:2526 78 78 1.0000 condition_architecture_interpretable 20 0 18 Microcephaly_with_or_without_chorioretinopathy,_lymphedema,_or_intellectual_disability 180 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F5 mondo_mondo_0009210_medgen_c0015499_omim_227400_orphanet_326 Congenital factor V deficiency MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326 78 78 1.0000 condition_architecture_interpretable 20 0 20 Congenital_factor_V_deficiency 109 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ELP1 human_phenotype_ontology_hp_0002885_mondo_mondo_0007959_mesh_d008527_medgen_c0025149_omim_155255_orphanet_616 Medulloblastoma Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616 78 78 1.0000 condition_architecture_interpretable 20 0 74 Medulloblastoma 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC2H1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 78 78 1.0000 condition_record_support_limited 20 78 64 not_provided|not_specified 566 large_gene_or_donor_burden_stress_case donor_burden_stress BEST1 mondo_mondo_0007931_medgen_c2745945_omim_153700_orphanet_1243 Vitelliform macular dystrophy 2 MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700,Orphanet:1243 78 78 1.0000 condition_architecture_interpretable 20 0 62 Vitelliform_macular_dystrophy_2 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AXIN2 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 78 78 1.0000 condition_architecture_interpretable 20 0 35 Hereditary_cancer-predisposing_syndrome 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A2 mondo_mondo_0000700_medgen_c0338484_omim_ps141500 Familial hemiplegic migraine MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500 78 78 1.0000 condition_architecture_interpretable 20 0 34 Familial_hemiplegic_migraine 134 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALPK3 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 78 78 1.0000 condition_architecture_interpretable 20 0 50 Cardiovascular_phenotype 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA3 condition_not_provided condition not provided .|MedGen:C3661900 78 78 1.0000 condition_record_support_limited 20 78 32 See_cases|not_provided 135 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TSC2 mondo_mondo_0011705_medgen_c0751674_omim_606690_orphanet_538 Lymphangiomyomatosis MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690,Orphanet:538 77 77 1.0000 condition_architecture_interpretable 20 0 70 Lymphangiomyomatosis 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SON mondo_mondo_0014936_medgen_c4310696_omim_617140_orphanet_500150 ZTTK syndrome MONDO:MONDO:0014936,MedGen:C4310696,OMIM:617140,Orphanet:500150 77 77 1.0000 condition_architecture_interpretable 20 0 16 ZTTK_syndrome 148 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SMCHD1 mondo_mondo_0008031_medgen_c1834671_omim_158901_orphanet_269 Facioscapulohumeral muscular dystrophy 2 MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901,Orphanet:269 77 77 1.0000 condition_architecture_interpretable 20 0 17 Facioscapulohumeral_muscular_dystrophy_2 140 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SH3TC2 mondo_mondo_0011113_medgen_c1866636_omim_601596_orphanet_99949 Charcot-Marie-Tooth disease type 4C MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596,Orphanet:99949 77 77 1.0000 condition_architecture_interpretable 20 0 48 Charcot-Marie-Tooth_disease_type_4C 162 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RHO human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 77 77 1.0000 condition_architecture_interpretable 20 0 60 Retinal_dystrophy 198 compact_adjacent_exon_block_opportunity local_compact_architecture PLEKHG5 mondo_mondo_0012608_medgen_c1970211_omim_611067_orphanet_206580 Neuronopathy, distal hereditary motor, autosomal recessive 4 MONDO:MONDO:0012608,MedGen:C1970211,OMIM:611067,Orphanet:206580 77 77 1.0000 condition_architecture_interpretable 20 0 74 Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_4 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX2 mondo_mondo_0013932_medgen_c3553940_omim_614866_orphanet_912 Peroxisome biogenesis disorder 5A (Zellweger) MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866,Orphanet:912 77 77 1.0000 condition_architecture_interpretable 20 0 31 Peroxisome_biogenesis_disorder_5A_(Zellweger) 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTOG condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 77 77 1.0000 condition_record_support_limited 20 77 21 not_provided 130 large_gene_or_donor_burden_stress_case donor_burden_stress MYH3 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 77 77 1.0000 condition_record_support_limited 20 77 14 See_cases|not_provided 124 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture L1CAM condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 77 77 1.0000 condition_record_support_limited 20 77 33 not_provided 203 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGB2 mondo_mondo_0007293_medgen_c0398738_omim_116920_orphanet_2968_orphanet_99842 Leukocyte adhesion deficiency 1 MONDO:MONDO:0007293,MedGen:C0398738,OMIM:116920,Orphanet:2968,Orphanet:99842 77 77 1.0000 condition_architecture_interpretable 20 0 14 Leukocyte_adhesion_deficiency_1 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA2 mondo_mondo_0013607_medgen_c3280030_omim_614172_orphanet_228423 Monocytopenia with susceptibility to infections MONDO:MONDO:0013607,MedGen:C3280030,OMIM:614172,Orphanet:228423 77 77 1.0000 condition_architecture_interpretable 20 0 70 Monocytopenia_with_susceptibility_to_infections 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKTN mondo_mondo_0012704_medgen_c1969024_omim_611615_orphanet_154 Dilated cardiomyopathy 1X MONDO:MONDO:0012704,MedGen:C1969024,OMIM:611615,Orphanet:154 77 77 1.0000 condition_architecture_interpretable 20 0 53 Dilated_cardiomyopathy_1X 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETFA mondo_mondo_0009282_medgen_c0268596_omim_231680_orphanet_26791 Multiple acyl-CoA dehydrogenase deficiency MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680,Orphanet:26791 77 77 1.0000 condition_architecture_interpretable 20 0 18 Multiple_acyl-CoA_dehydrogenase_deficiency 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNTNAP2 mondo_mondo_0012400_medgen_c2750246_omim_610042_orphanet_163681_orphanet_221150 Cortical dysplasia-focal epilepsy syndrome MONDO:MONDO:0012400,MedGen:C2750246,OMIM:610042,Orphanet:163681,Orphanet:221150 77 77 1.0000 condition_architecture_interpretable 20 0 22 Cortical_dysplasia-focal_epilepsy_syndrome 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGB3 human_phenotype_ontology_hp_0011516_mondo_mondo_0018852_medgen_c0152200_orphanet_49382 Achromatopsia Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382 77 77 1.0000 condition_architecture_interpretable 20 0 65 Achromatopsia 271 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 77 77 1.0000 condition_architecture_interpretable 20 0 51 Retinal_dystrophy 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V1B1 mondo_mondo_0009968_medgen_c0403554_omim_267300 Renal tubular acidosis with progressive nerve deafness MONDO:MONDO:0009968,MedGen:C0403554,OMIM:267300 77 77 1.0000 condition_architecture_interpretable 20 0 45 Renal_tubular_acidosis_with_progressive_nerve_deafness 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XPA mondo_mondo_0010210_medgen_c0268135_omim_278700_orphanet_910 Xeroderma pigmentosum group A MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700,Orphanet:910 76 76 1.0000 condition_architecture_interpretable 20 0 38 Xeroderma_pigmentosum_group_A 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF20 mondo_mondo_0032745_medgen_c5193092_omim_618430 Developmental delay with variable intellectual impairment and behavioral abnormalities MONDO:MONDO:0032745,MedGen:C5193092,OMIM:618430 76 76 1.0000 condition_architecture_interpretable 20 0 13 Developmental_delay_with_variable_intellectual_impairment_and_behavioral_abnormalities 139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCF12 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 76 76 1.0000 condition_record_support_limited 20 76 16 not_provided 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBK1 mondo_mondo_0014641_medgen_c4225325_omim_616439_orphanet_275872 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439,Orphanet:275872 76 76 1.0000 condition_architecture_interpretable 20 0 11 Frontotemporal_dementia_and/or_amyotrophic_lateral_sclerosis_4 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SURF1 mondo_mondo_0700250_medgen_c5435656_omim_220110 Mitochondrial complex IV deficiency, nuclear type 1 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 76 76 1.0000 condition_architecture_interpretable 20 0 52 Mitochondrial_complex_IV_deficiency,_nuclear_type_1 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUOX human_phenotype_ontology_hp_0003643_mondo_mondo_0010089_medgen_c0268624_omim_272300_orphanet_833_orphanet_99731 Sulfite oxidase deficiency Human_Phenotype_Ontology:HP:0003643,MONDO:MONDO:0010089,MedGen:C0268624,OMIM:272300,Orphanet:833,Orphanet:99731 76 76 1.0000 condition_architecture_interpretable 20 0 14 Sulfite_oxidase_deficiency 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX2 mondo_mondo_0008799_medgen_c1859773_omim_206900_orphanet_77298 Anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:MONDO:0008799,MedGen:C1859773,OMIM:206900,Orphanet:77298 76 76 1.0000 condition_architecture_interpretable 20 0 12 Anophthalmia/microphthalmia-esophageal_atresia_syndrome 102 single_exon_hotspot_opportunity local_compact_architecture SLC26A3 condition_not_provided condition not provided MedGen:C3661900 76 76 1.0000 condition_record_support_limited 20 76 29 not_provided 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROS1 mondo_mondo_0013791_medgen_c3281092_omim_614514_orphanet_743 Thrombophilia due to protein S deficiency, autosomal recessive MONDO:MONDO:0013791,MedGen:C3281092,OMIM:614514,Orphanet:743 76 76 1.0000 condition_architecture_interpretable 20 0 23 Thrombophilia_due_to_protein_S_deficiency,_autosomal_recessive 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLEKHG5 mondo_mondo_0014154_medgen_c3809309_omim_615376_orphanet_369867 Charcot-Marie-Tooth disease recessive intermediate C MONDO:MONDO:0014154,MedGen:C3809309,OMIM:615376,Orphanet:369867 76 76 1.0000 condition_architecture_interpretable 20 0 74 Charcot-Marie-Tooth_disease_recessive_intermediate_C 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHIP condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 76 76 1.0000 condition_record_support_limited 20 76 30 See_cases|not_provided 177 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PALB2 mondo_mondo_0013236_medgen_c3150547_omim_613348_orphanet_1333 Pancreatic cancer, susceptibility to, 3 MONDO:MONDO:0013236,MedGen:C3150547,OMIM:613348,Orphanet:1333 76 76 1.0000 condition_architecture_interpretable 20 0 74 Pancreatic_cancer,_susceptibility_to,_3 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NAA15 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 76 76 1.0000 condition_record_support_limited 20 76 17 See_cases|not_provided 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAA15 mondo_mondo_0030916_medgen_c4540470_omim_617787 Intellectual disability, autosomal dominant 50 MONDO:MONDO:0030916,MedGen:C4540470,OMIM:617787 76 76 1.0000 condition_architecture_interpretable 20 0 14 Intellectual_disability,_autosomal_dominant_50 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MME condition_not_provided condition not provided .|MedGen:C3661900 76 76 1.0000 condition_record_support_limited 20 76 21 See_cases|not_provided 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MERTK condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 76 76 1.0000 condition_record_support_limited 20 76 33 not_provided 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 mondo_mondo_0007422_medgen_c0265964_omim_124500_orphanet_494 Mutilating keratoderma MONDO:MONDO:0007422,MedGen:C0265964,OMIM:124500,Orphanet:494 76 76 1.0000 condition_architecture_interpretable 20 0 76 Mutilating_keratoderma 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDAP1 mondo_mondo_0008961_medgen_c1859198_omim_214400_orphanet_99948 Charcot-Marie-Tooth disease type 4A MONDO:MONDO:0008961,MedGen:C1859198,OMIM:214400,Orphanet:99948 76 76 1.0000 condition_architecture_interpretable 20 0 40 Charcot-Marie-Tooth_disease_type_4A 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCE mondo_mondo_0010953_medgen_c3160739_omim_600901_orphanet_84 Fanconi anemia complementation group E MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901,Orphanet:84 76 76 1.0000 condition_architecture_interpretable 20 0 9 Fanconi_anemia_complementation_group_E 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC8 mondo_mondo_0019569_medgen_c0751039_omim_216400_orphanet_191_orphanet_90321 Cockayne syndrome type 1 MONDO:MONDO:0019569,MedGen:C0751039,OMIM:216400,Orphanet:191,Orphanet:90321 76 76 1.0000 condition_architecture_interpretable 20 0 51 Cockayne_syndrome_type_1 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELANE mondo_mondo_0042490_medgen_c1859966_omim_202700 Neutropenia, severe congenital, 1, autosomal dominant MONDO:MONDO:0042490,MedGen:C1859966,OMIM:202700 76 76 1.0000 condition_architecture_interpretable 20 0 53 Neutropenia,_severe_congenital,_1,_autosomal_dominant 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BUB1B mondo_mondo_0009759_medgen_c1850343_omim_257300_orphanet_1052 Mosaic variegated aneuploidy syndrome 1 MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300,Orphanet:1052 76 76 1.0000 condition_architecture_interpretable 20 0 15 Mosaic_variegated_aneuploidy_syndrome_1 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCS1L condition_not_provided condition not provided MedGen:C3661900 76 76 1.0000 condition_record_support_limited 20 76 50 not_provided 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AAAS condition_not_provided condition not provided MedGen:C3661900 76 76 1.0000 condition_record_support_limited 20 76 31 not_provided 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCD condition_not_provided condition not provided MedGen:C3661900 75 75 1.0000 condition_record_support_limited 20 75 13 not_provided 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD4 mondo_mondo_0008278_medgen_c1832942_omim_175050_orphanet_2929 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MONDO:MONDO:0008278,MedGen:C1832942,OMIM:175050,Orphanet:2929 75 75 1.0000 condition_architecture_interpretable 20 0 47 Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome 300 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SLC25A13 mondo_mondo_0015991_medgen_c0175683_omim_ps215700_orphanet_187 Citrullinemia MONDO:MONDO:0015991,MedGen:C0175683,OMIM:PS215700,Orphanet:187 75 75 1.0000 condition_architecture_interpretable 20 0 54 Citrullinemia 213 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDCCAG8 mondo_mondo_0014444_medgen_c3889474_omim_615993_orphanet_110 Bardet-Biedl syndrome 16 MONDO:MONDO:0014444,MedGen:C3889474,OMIM:615993,Orphanet:110 75 75 1.0000 condition_architecture_interpretable 20 0 70 Bardet-Biedl_syndrome_16 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RELN mondo_mondo_0014639_medgen_c4225327_omim_616436_orphanet_101046 Familial temporal lobe epilepsy 7 MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046 75 75 1.0000 condition_architecture_interpretable 20 0 66 Familial_temporal_lobe_epilepsy_7 117 large_gene_or_donor_burden_stress_case donor_burden_stress RAI1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 75 75 1.0000 condition_record_support_limited 20 75 7 not_provided 161 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PALB2 mondo_mondo_0012565_medgen_c1835817_omim_610832_orphanet_84 Fanconi anemia complementation group N MONDO:MONDO:0012565,MedGen:C1835817,OMIM:610832,Orphanet:84 75 75 1.0000 condition_architecture_interpretable 20 0 72 Fanconi_anemia_complementation_group_N 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NPHS2 condition_not_provided condition not provided MedGen:C3661900 75 75 1.0000 condition_record_support_limited 20 75 55 not_provided 158 compact_adjacent_exon_block_opportunity local_compact_architecture NPHP1 mondo_mondo_0012308_medgen_c1846790_omim_609583_orphanet_220497 Joubert syndrome with renal defect MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583,Orphanet:220497 75 75 1.0000 condition_architecture_interpretable 20 0 47 Joubert_syndrome_with_renal_defect 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFAF5 condition_not_provided condition not provided MedGen:C3661900 75 75 1.0000 condition_record_support_limited 20 75 36 not_provided 117 compact_adjacent_exon_block_opportunity local_compact_architecture MPZ condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 75 75 1.0000 condition_record_support_limited 20 75 61 not_provided|not_specified 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MKKS mondo_mondo_0009367_medgen_c0948368_omim_236700_orphanet_2473 McKusick-Kaufman syndrome MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700,Orphanet:2473 75 75 1.0000 condition_architecture_interpretable 20 0 72 McKusick-Kaufman_syndrome 124 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KANSL1 mondo_mondo_0012496_medgen_c1864871_omim_610443_orphanet_96169 Koolen-de Vries syndrome MONDO:MONDO:0012496,MedGen:C1864871,OMIM:610443,Orphanet:96169 75 75 1.0000 condition_architecture_interpretable 20 0 14 Koolen-de_Vries_syndrome 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HOGA1 condition_not_provided condition not provided MedGen:C3661900 75 75 1.0000 condition_record_support_limited 20 75 52 not_provided 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HBB medgen_c1840779_omim_617971 METHEMOGLOBINEMIA, BETA TYPE MedGen:C1840779,OMIM:617971 75 75 1.0000 condition_architecture_interpretable 20 0 74 METHEMOGLOBINEMIA,_BETA_TYPE 428 compact_adjacent_exon_block_opportunity local_compact_architecture GRHPR condition_not_provided condition not provided MedGen:C3661900 75 75 1.0000 condition_record_support_limited 20 75 50 not_provided 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 mondo_mondo_0007866_medgen_c0266004_omim_149200_orphanet_2698 Knuckle pads, deafness AND leukonychia syndrome MONDO:MONDO:0007866,MedGen:C0266004,OMIM:149200,Orphanet:2698 75 75 1.0000 condition_architecture_interpretable 20 0 74 Knuckle_pads,_deafness_AND_leukonychia_syndrome 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 mondo_mondo_0011245_medgen_c1865234_omim_602540_orphanet_477 Ichthyosis, hystrix-like, with hearing loss MONDO:MONDO:0011245,MedGen:C1865234,OMIM:602540,Orphanet:477 75 75 1.0000 condition_architecture_interpretable 20 0 75 Ichthyosis,_hystrix-like,_with_hearing_loss 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FHL1 mondo_mondo_0010401_medgen_c2678055_omim_300696_orphanet_178461 X-linked myopathy with postural muscle atrophy MONDO:MONDO:0010401,MedGen:C2678055,OMIM:300696,Orphanet:178461 75 75 1.0000 condition_architecture_interpretable 20 0 20 X-linked_myopathy_with_postural_muscle_atrophy 101 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 fgfr2_related_craniosynostosis FGFR2-related craniosynostosis MedGen:CN231480 75 75 1.0000 condition_architecture_interpretable 20 0 58 FGFR2-related_craniosynostosis 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EHMT1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 75 75 1.0000 condition_record_support_limited 20 75 26 not_provided|not_specified 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EGFR egfr_related_lung_cancer EGFR-related lung cancer MedGen:CN130014 75 75 1.0000 condition_architecture_interpretable 20 0 1 EGFR-related_lung_cancer 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP21A2 medgen_c2936858_omim_201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY MedGen:C2936858,OMIM:201910 75 75 1.0000 condition_architecture_interpretable 20 0 30 ADRENAL_HYPERPLASIA,_CONGENITAL,_DUE_TO_21-HYDROXYLASE_DEFICIENCY 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNA1 mondo_mondo_0007648_medgen_c1708349_omim_137215_orphanet_26106 Hereditary diffuse gastric adenocarcinoma MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:26106 75 75 1.0000 condition_architecture_interpretable 20 0 47 Hereditary_diffuse_gastric_adenocarcinoma 233 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATL1 mondo_mondo_0008437_medgen_c2931355_omim_182600_orphanet_100984 Hereditary spastic paraplegia 3A MONDO:MONDO:0008437,MedGen:C2931355,OMIM:182600,Orphanet:100984 75 75 1.0000 condition_architecture_interpretable 20 0 24 Hereditary_spastic_paraplegia_3A 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANKRD11 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 75 75 1.0000 condition_architecture_interpretable 20 0 36 Inborn_genetic_diseases 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ABCC9 mondo_mondo_0012062_medgen_c1837839_omim_608569_orphanet_154 Dilated cardiomyopathy 1O MONDO:MONDO:0012062,MedGen:C1837839,OMIM:608569,Orphanet:154 75 75 1.0000 condition_architecture_interpretable 20 0 10 Dilated_cardiomyopathy_1O 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA4 abca4_related_disorder ABCA4-related disorder MedGen:CN239167 75 75 1.0000 condition_architecture_interpretable 20 0 72 ABCA4-related_disorder 1464 large_gene_or_donor_burden_stress_case donor_burden_stress TRIM37 mondo_mondo_0009664_medgen_c0524582_omim_253250_orphanet_2576 Mulibrey nanism syndrome MONDO:MONDO:0009664,MedGen:C0524582,OMIM:253250,Orphanet:2576 74 74 1.0000 condition_architecture_interpretable 20 0 24 Mulibrey_nanism_syndrome 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM127 mondo_mondo_0017366_medgen_c4274332_omim_ps168000_orphanet_29072 Hereditary pheochromocytoma and paraganglioma MONDO:MONDO:0017366,MedGen:C4274332,OMIM:PS168000,Orphanet:29072 74 74 1.0000 condition_architecture_interpretable 20 0 40 Hereditary_pheochromocytoma_and_paraganglioma 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A20 mondo_mondo_0008918_medgen_c0342791_omim_212138_orphanet_159 Carnitine acylcarnitine translocase deficiency MONDO:MONDO:0008918,MedGen:C0342791,OMIM:212138,Orphanet:159 74 74 1.0000 condition_architecture_interpretable 20 0 12 Carnitine_acylcarnitine_translocase_deficiency 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEC23B mondo_mondo_0014802_medgen_c4225179_omim_616858_orphanet_201 Cowden syndrome 7 MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858,Orphanet:201 74 74 1.0000 condition_architecture_interpretable 20 0 73 Cowden_syndrome_7 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 Noonan syndrome MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 74 74 1.0000 condition_architecture_interpretable 20 0 69 Noonan_syndrome 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSEN1 human_phenotype_ontology_hp_0002145_mondo_mondo_0017276_medgen_c0338451_omim_600274_orphanet_282 Frontotemporal dementia Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282 74 74 1.0000 condition_architecture_interpretable 20 0 71 Frontotemporal_dementia 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPF31 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 74 74 1.0000 condition_architecture_interpretable 20 0 38 Retinal_dystrophy 261 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAR1A mondo_mondo_0008057_medgen_c2607929_omim_160980_orphanet_1359 Carney complex, type 1 MONDO:MONDO:0008057,MedGen:C2607929,OMIM:160980,Orphanet:1359 74 74 1.0000 condition_architecture_interpretable 20 0 23 Carney_complex,_type_1 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG mondo_mondo_0013350_medgen_c3150914_omim_613662_orphanet_298 Mitochondrial DNA depletion syndrome 4b MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298 74 74 1.0000 condition_architecture_interpretable 20 0 74 Mitochondrial_DNA_depletion_syndrome_4b 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKP2 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 74 74 1.0000 condition_architecture_interpretable 20 0 59 Cardiomyopathy 344 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGO mondo_mondo_0013882_medgen_c3553637_omim_614749_orphanet_247262 Hyperphosphatasia with intellectual disability syndrome 2 MONDO:MONDO:0013882,MedGen:C3553637,OMIM:614749,Orphanet:247262 74 74 1.0000 condition_architecture_interpretable 20 0 13 Hyperphosphatasia_with_intellectual_disability_syndrome_2 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGG mondo_mondo_0014832_medgen_c4310794_omim_616917_orphanet_488635 Intellectual disability, autosomal recessive 53 MONDO:MONDO:0014832,MedGen:C4310794,OMIM:616917,Orphanet:488635 74 74 1.0000 condition_architecture_interpretable 20 0 22 Intellectual_disability,_autosomal_recessive_53 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIEZO1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 74 74 1.0000 condition_record_support_limited 20 74 19 not_provided 120 large_gene_or_donor_burden_stress_case donor_burden_stress PEX10 mondo_mondo_0013936_medgen_c3553947_omim_614870_orphanet_912 Peroxisome biogenesis disorder 6A (Zellweger) MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912 74 74 1.0000 condition_architecture_interpretable 20 0 61 Peroxisome_biogenesis_disorder_6A_(Zellweger) 142 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP2 mondo_mondo_0009104_medgen_c1857277_omim_222448_orphanet_2143 Donnai-Barrow syndrome MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143 74 74 1.0000 condition_architecture_interpretable 20 0 18 Donnai-Barrow_syndrome 205 large_gene_or_donor_burden_stress_case donor_burden_stress HBB human_phenotype_ontology_hp_0005511_mondo_mondo_0007705_medgen_c0700299_omim_140700_orphanet_178330 Heinz body anemia Human_Phenotype_Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330 74 74 1.0000 condition_architecture_interpretable 20 0 74 Heinz_body_anemia 428 compact_adjacent_exon_block_opportunity local_compact_architecture GNS mondo_mondo_0009658_medgen_c0086650_omim_252940_orphanet_581_orphanet_79272 Mucopolysaccharidosis, MPS-III-D MONDO:MONDO:0009658,MedGen:C0086650,OMIM:252940,Orphanet:581,Orphanet:79272 74 74 1.0000 condition_architecture_interpretable 20 0 11 Mucopolysaccharidosis,_MPS-III-D 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELAC2 mondo_mondo_0014190_medgen_c3809526_omim_615440_orphanet_369913 Combined oxidative phosphorylation defect type 17 MONDO:MONDO:0014190,MedGen:C3809526,OMIM:615440,Orphanet:369913 74 74 1.0000 condition_architecture_interpretable 20 0 12 Combined_oxidative_phosphorylation_defect_type_17 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL1A2 mondo_mondo_0009804_medgen_c0268362_omim_259420_orphanet_216812_orphanet_666 Osteogenesis imperfecta type III MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420,Orphanet:216812,Orphanet:666 74 74 1.0000 condition_architecture_interpretable 20 0 49 Osteogenesis_imperfecta_type_III 722 large_gene_or_donor_burden_stress_case donor_burden_stress ABCC6 mondo_mondo_0013768_medgen_c3276161_omim_614473_orphanet_51608 Arterial calcification, generalized, of infancy, 2 MONDO:MONDO:0013768,MedGen:C3276161,OMIM:614473,Orphanet:51608 74 74 1.0000 condition_architecture_interpretable 20 0 72 Arterial_calcification,_generalized,_of_infancy,_2 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFB2 mondo_mondo_0013897_medgen_c3553762_omim_614816 Loeys-Dietz syndrome 4 MONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816 73 73 1.0000 condition_architecture_interpretable 20 0 24 Loeys-Dietz_syndrome_4 112 compact_adjacent_exon_block_opportunity local_compact_architecture SMPD1 mondo_mondo_0001982_medgen_c0028064 Sphingomyelin/cholesterol lipidosis MONDO:MONDO:0001982,MedGen:C0028064 73 73 1.0000 condition_architecture_interpretable 20 0 69 Sphingomyelin/cholesterol_lipidosis 386 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDCCAG8 mondo_mondo_0013326_medgen_c3150877_omim_613615_orphanet_3156 Senior-Loken syndrome 7 MONDO:MONDO:0013326,MedGen:C3150877,OMIM:613615,Orphanet:3156 73 73 1.0000 condition_architecture_interpretable 20 0 71 Senior-Loken_syndrome_7 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAPSN human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 73 73 1.0000 condition_architecture_interpretable 20 0 73 Fetal_akinesia_deformation_sequence_1 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSEN1 mondo_mondo_0008243_medgen_c0236642_omim_172700_orphanet_282 Pick disease MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700,Orphanet:282 73 73 1.0000 condition_architecture_interpretable 20 0 73 Pick_disease 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROC mondo_mondo_0008316_medgen_c2674321_omim_176860_orphanet_745 Thrombophilia due to protein C deficiency, autosomal dominant MONDO:MONDO:0008316,MedGen:C2674321,OMIM:176860,Orphanet:745 73 73 1.0000 condition_architecture_interpretable 20 0 36 Thrombophilia_due_to_protein_C_deficiency,_autosomal_dominant 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG mondo_mondo_0009783_medgen_c4225153_omim_258450_orphanet_254886 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450,Orphanet:254886 73 73 1.0000 condition_architecture_interpretable 20 0 70 Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX6 mondo_mondo_0013931_medgen_c3553937_omim_614863_orphanet_44_orphanet_95433 Peroxisome biogenesis disorder 4B MONDO:MONDO:0013931,MedGen:C3553937,OMIM:614863,Orphanet:44,Orphanet:95433 73 73 1.0000 condition_architecture_interpretable 20 0 68 Peroxisome_biogenesis_disorder_4B 301 compact_adjacent_exon_block_opportunity local_compact_architecture PDHA1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 73 73 1.0000 condition_record_support_limited 20 73 48 not_provided 395 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA1 mondo_mondo_0008134_medgen_c0338508_omim_165500_orphanet_98673 Autosomal dominant optic atrophy classic form MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500,Orphanet:98673 73 73 1.0000 condition_architecture_interpretable 20 0 45 Autosomal_dominant_optic_atrophy_classic_form 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KMT2B condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 73 73 1.0000 condition_record_support_limited 20 73 17 See_cases|not_provided 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KCNB1 mondo_mondo_0014477_medgen_c4015119_omim_616056_orphanet_442835 Developmental and epileptic encephalopathy, 26 MONDO:MONDO:0014477,MedGen:C4015119,OMIM:616056,Orphanet:442835 73 73 1.0000 condition_architecture_interpretable 20 0 28 Developmental_and_epileptic_encephalopathy,_26 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IQSEC2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 73 73 1.0000 condition_record_support_limited 20 73 24 See_cases|not_provided 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRN mondo_mondo_0013866_medgen_c3539123_omim_614706_orphanet_314629_orphanet_79262 Neuronal ceroid lipofuscinosis 11 MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706,Orphanet:314629,Orphanet:79262 73 73 1.0000 condition_architecture_interpretable 20 0 72 Neuronal_ceroid_lipofuscinosis_11 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXT1 mondo_mondo_0007585_medgen_cn263289_omim_133700 Exostoses, multiple, type 1 MONDO:MONDO:0007585,MedGen:CN263289,OMIM:133700 73 73 1.0000 condition_architecture_interpretable 20 0 43 Exostoses,_multiple,_type_1 516 compact_adjacent_exon_block_opportunity local_compact_architecture CYP1B1 mondo_mondo_0015016_medgen_c4310623_omim_617315 Anterior segment dysgenesis 6 MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315 73 73 1.0000 condition_architecture_interpretable 20 0 60 Anterior_segment_dysgenesis_6 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSC mondo_mondo_0980757_medgen_c4551681 Periodontitis, aggressive MONDO:MONDO:0980757,MedGen:C4551681 73 73 1.0000 condition_architecture_interpretable 20 0 72 Periodontitis,_aggressive 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSC mondo_mondo_0009491_medgen_c1855627_omim_245010_orphanet_2342 Haim-Munk syndrome MONDO:MONDO:0009491,MedGen:C1855627,OMIM:245010,Orphanet:2342 73 73 1.0000 condition_architecture_interpretable 20 0 72 Haim-Munk_syndrome 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP13A2 mondo_mondo_0011706_medgen_c1847640_omim_606693_orphanet_306674_orphanet_314632 Kufor-Rakeb syndrome MONDO:MONDO:0011706,MedGen:C1847640,OMIM:606693,Orphanet:306674,Orphanet:314632 73 73 1.0000 condition_architecture_interpretable 20 0 61 Kufor-Rakeb_syndrome 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 mondo_mondo_0011510_medgen_c0796232_omim_605039_orphanet_97297 Bohring-Opitz syndrome MONDO:MONDO:0011510,MedGen:C0796232,OMIM:605039,Orphanet:97297 73 73 1.0000 condition_architecture_interpretable 20 0 17 Bohring-Opitz_syndrome 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRG1 mondo_mondo_0011738_medgen_c1847352_omim_606854_orphanet_101070 Bilateral frontoparietal polymicrogyria MONDO:MONDO:0011738,MedGen:C1847352,OMIM:606854,Orphanet:101070 73 73 1.0000 condition_architecture_interpretable 20 0 43 Bilateral_frontoparietal_polymicrogyria 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTS13 condition_not_provided condition not provided MedGen:C3661900 73 73 1.0000 condition_record_support_limited 20 73 28 not_provided 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC6 mondo_mondo_0008333_medgen_c1867450_omim_177850_orphanet_758 Pseudoxanthoma elasticum, forme fruste MONDO:MONDO:0008333,MedGen:C1867450,OMIM:177850,Orphanet:758 73 73 1.0000 condition_architecture_interpretable 20 0 73 Pseudoxanthoma_elasticum,_forme_fruste 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBE3A condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 72 72 1.0000 condition_record_support_limited 20 72 31 See_cases|not_provided 274 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX9 mondo_mondo_0007251_medgen_c1861922_omim_114290_orphanet_140 Camptomelic dysplasia MONDO:MONDO:0007251,MedGen:C1861922,OMIM:114290,Orphanet:140 72 72 1.0000 condition_architecture_interpretable 20 0 19 Camptomelic_dysplasia 134 compact_adjacent_exon_block_opportunity local_compact_architecture SLC22A5 medgen_c1142132 Carnitine deficiency MedGen:C1142132 72 72 1.0000 condition_architecture_interpretable 20 0 63 Carnitine_deficiency 285 compact_adjacent_exon_block_opportunity local_compact_architecture SLC19A3 mondo_mondo_0011841_medgen_c1843807_omim_607483_orphanet_199348_orphanet_65284 Biotin-responsive basal ganglia disease MONDO:MONDO:0011841,MedGen:C1843807,OMIM:607483,Orphanet:199348,Orphanet:65284 72 72 1.0000 condition_architecture_interpretable 20 0 18 Biotin-responsive_basal_ganglia_disease 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC16A2 mondo_mondo_0010354_medgen_c0795889_omim_300523_orphanet_59 Allan-Herndon-Dudley syndrome MONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523,Orphanet:59 72 72 1.0000 condition_architecture_interpretable 20 0 15 Allan-Herndon-Dudley_syndrome 112 compact_adjacent_exon_block_opportunity local_compact_architecture SETX mondo_mondo_0018996_medgen_c1853761_omim_606002_orphanet_64753 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753 72 72 1.0000 condition_architecture_interpretable 20 0 43 Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 72 72 1.0000 condition_architecture_interpretable 20 0 16 Developmental_and_epileptic_encephalopathy 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture POMGNT1 mondo_mondo_0018939_medgen_c0457133_orphanet_588_orphanet_899 Muscle eye brain disease MONDO:MONDO:0018939,MedGen:C0457133,Orphanet:588,Orphanet:899 72 72 1.0000 condition_architecture_interpretable 20 0 52 Muscle_eye_brain_disease 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX2 mondo_mondo_0014451_medgen_c4014925_omim_616002_orphanet_656 Focal segmental glomerulosclerosis 7 MONDO:MONDO:0014451,MedGen:C4014925,OMIM:616002,Orphanet:656 72 72 1.0000 condition_architecture_interpretable 20 0 48 Focal_segmental_glomerulosclerosis_7 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NTHL1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 72 72 1.0000 condition_architecture_interpretable 20 0 57 Hereditary_cancer-predisposing_syndrome 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MKKS mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 72 72 1.0000 condition_architecture_interpretable 20 0 68 Bardet-Biedl_syndrome 124 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LDLR medgen_c0242339 Dyslipidemia MedGen:C0242339 72 72 1.0000 condition_architecture_interpretable 20 0 69 Dyslipidemia 1933 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGB3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 72 72 1.0000 condition_record_support_limited 20 72 49 not_provided|not_specified 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPS6 condition_not_provided condition not provided MedGen:C3661900 72 72 1.0000 condition_record_support_limited 20 72 31 not_provided 99 single_exon_hotspot_opportunity local_compact_architecture HBB mondo_mondo_0021024_medgen_c1970028_omim_611162_orphanet_673 Malaria, susceptibility to MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673 72 72 1.0000 condition_architecture_interpretable 20 0 71 Malaria,_susceptibility_to 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB mondo_mondo_0011382_medgen_c0002895_omim_603903_orphanet_232_orphanet_275752 Hb SS disease MONDO:MONDO:0011382,MedGen:C0002895,OMIM:603903,Orphanet:232,Orphanet:275752 72 72 1.0000 condition_architecture_interpretable 20 0 72 Hb_SS_disease 428 compact_adjacent_exon_block_opportunity local_compact_architecture EYA1 mondo_mondo_0007236_medgen_c4551702_omim_113650_orphanet_107 Branchiootorenal syndrome 1 MONDO:MONDO:0007236,MedGen:C4551702,OMIM:113650,Orphanet:107 72 72 1.0000 condition_architecture_interpretable 20 0 27 Branchiootorenal_syndrome_1 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC1H1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 72 72 1.0000 condition_record_support_limited 20 72 33 not_provided 176 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 mondo_mondo_0012726_medgen_c2673195_omim_611773_orphanet_73229 Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome MONDO:MONDO:0012726,MedGen:C2673195,OMIM:611773,Orphanet:73229 72 72 1.0000 condition_architecture_interpretable 20 0 45 Autosomal_dominant_familial_hematuria-retinal_arteriolar_tortuosity-contractures_syndrome 396 large_gene_or_donor_burden_stress_case donor_burden_stress CFI cfi_related_disorder CFI-related disorder MedGen:CN239325 72 72 1.0000 condition_architecture_interpretable 20 0 19 CFI-related_disorder 124 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAR mondo_mondo_0014007_medgen_c3539013_omim_615010_orphanet_51 Aicardi-Goutieres syndrome 6 MONDO:MONDO:0014007,MedGen:C3539013,OMIM:615010,Orphanet:51 72 72 1.0000 condition_architecture_interpretable 20 0 56 Aicardi-Goutieres_syndrome_6 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA4 mondo_mondo_0800406_medgen_cn322612 ABCA4-related retinopathy MONDO:MONDO:0800406,MedGen:CN322612 72 72 1.0000 condition_architecture_interpretable 20 0 65 ABCA4-related_retinopathy 1464 large_gene_or_donor_burden_stress_case donor_burden_stress TTN mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 Primary familial dilated cardiomyopathy MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 71 71 1.0000 condition_architecture_interpretable 20 0 58 Primary_familial_dilated_cardiomyopathy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TECTA condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 71 71 1.0000 condition_record_support_limited 20 71 25 not_provided|not_specified 123 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TBC1D24 mondo_mondo_0014470_medgen_c3892048_omim_616044_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 65 MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044,Orphanet:90635 71 71 1.0000 condition_architecture_interpretable 20 0 71 Autosomal_dominant_nonsyndromic_hearing_loss_65 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCB1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 71 71 1.0000 condition_record_support_limited 20 71 21 not_provided 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHB condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 71 71 1.0000 condition_record_support_limited 20 71 70 not_provided|not_specified 280 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RET mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 71 71 1.0000 condition_architecture_interpretable 20 0 56 Hereditary_cancer-predisposing_syndrome 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEXMIF mondo_mondo_0010483_medgen_c3806730_omim_300912_orphanet_85277 X-linked intellectual disability, Cantagrel type MONDO:MONDO:0010483,MedGen:C3806730,OMIM:300912,Orphanet:85277 71 71 1.0000 condition_architecture_interpretable 20 0 17 X-linked_intellectual_disability,_Cantagrel_type 218 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYH7 mondo_mondo_0013262_medgen_c1834481_omim_613426_orphanet_154_orphanet_54260 Dilated cardiomyopathy 1S MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426,Orphanet:154,Orphanet:54260 71 71 1.0000 condition_architecture_interpretable 20 0 57 Dilated_cardiomyopathy_1S 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MSH6 mondo_mondo_0030841_medgen_c5436807_omim_619097 Mismatch repair cancer syndrome 3 MONDO:MONDO:0030841,MedGen:C5436807,OMIM:619097 71 71 1.0000 condition_architecture_interpretable 20 0 68 Mismatch_repair_cancer_syndrome_3 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control IRF6 mondo_mondo_0017435_medgen_c0265259_orphanet_294963 Popliteal pterygium syndrome MONDO:MONDO:0017435,MedGen:C0265259,Orphanet:294963 71 71 1.0000 condition_architecture_interpretable 20 0 69 Popliteal_pterygium_syndrome 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLB1 condition_not_provided condition not provided MedGen:C3661900 71 71 1.0000 condition_record_support_limited 20 71 59 not_provided 322 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL7 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 71 71 1.0000 condition_record_support_limited 20 71 23 not_provided 126 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL1A1 col1a1_related_disorder COL1A1-related disorder . 71 71 1.0000 condition_architecture_interpretable 20 0 50 COL1A1-related_disorder 1430 large_gene_or_donor_burden_stress_case donor_burden_stress CHM human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 71 71 1.0000 condition_architecture_interpretable 20 0 36 Retinal_dystrophy 314 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAR mondo_mondo_0007483_medgen_c0406775_omim_127400_orphanet_41 Symmetrical dyschromatosis of extremities MONDO:MONDO:0007483,MedGen:C0406775,OMIM:127400,Orphanet:41 71 71 1.0000 condition_architecture_interpretable 20 0 55 Symmetrical_dyschromatosis_of_extremities 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNFAIP3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 70 70 1.0000 condition_record_support_limited 20 70 8 not_provided 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMPRSS15 condition_not_provided condition not provided MedGen:C3661900 70 70 1.0000 condition_record_support_limited 20 70 9 not_provided 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR1 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 70 70 1.0000 condition_architecture_interpretable 20 0 18 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 108 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSEN1 mondo_mondo_0013398_medgen_c3151038_omim_613737 Acne inversa, familial, 3 MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737 70 70 1.0000 condition_architecture_interpretable 20 0 69 Acne_inversa,_familial,_3 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX6 mondo_mondo_0019609_medgen_c0043459_orphanet_912 Zellweger spectrum disorders MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912 70 70 1.0000 condition_architecture_interpretable 20 0 55 Zellweger_spectrum_disorders 301 compact_adjacent_exon_block_opportunity local_compact_architecture NPR2 mondo_mondo_0011275_medgen_c1864356_omim_602875_orphanet_40 Acromesomelic dysplasia 1, Maroteaux type MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875,Orphanet:40 70 70 1.0000 condition_architecture_interpretable 20 0 47 Acromesomelic_dysplasia_1,_Maroteaux_type 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSH2 mondo_mondo_0008018_medgen_c1321489_omim_158320_orphanet_587 Muir-Torré syndrome MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:587 70 70 1.0000 condition_architecture_interpretable 20 0 68 Muir-Torré_syndrome 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MLH1 mondo_mondo_0008018_medgen_c1321489_omim_158320_orphanet_587 Muir-Torré syndrome MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:587 70 70 1.0000 condition_architecture_interpretable 20 0 68 Muir-Torré_syndrome 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MBD4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 70 70 1.0000 condition_architecture_interpretable 20 0 43 Inborn_genetic_diseases 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KMT2E mondo_mondo_0032793_medgen_c5193138_omim_618512 O'Donnell-Luria-Rodan syndrome MONDO:MONDO:0032793,MedGen:C5193138,OMIM:618512 70 70 1.0000 condition_architecture_interpretable 20 0 20 O'Donnell-Luria-Rodan_syndrome 136 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture IL12RB1 mondo_mondo_0013955_medgen_c4013949_omim_614891_orphanet_319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency MONDO:MONDO:0013955,MedGen:C4013949,OMIM:614891,Orphanet:319552 70 70 1.0000 condition_architecture_interpretable 20 0 6 Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12RB1_deficiency 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPS3 mondo_mondo_0019312_medgen_c0079504_omim_ps203300_orphanet_79430 Hermansky-Pudlak syndrome MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430 70 70 1.0000 condition_architecture_interpretable 20 0 52 Hermansky-Pudlak_syndrome 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FH mondo_mondo_0011730_medgen_c0342770_omim_606812_orphanet_24 Fumarase deficiency MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24 70 70 1.0000 condition_architecture_interpretable 20 0 62 Fumarase_deficiency 482 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control DOK7 mondo_mondo_0100103_medgen_c4760599_omim_618389 Fetal akinesia deformation sequence 3 MONDO:MONDO:0100103,MedGen:C4760599,OMIM:618389 70 70 1.0000 condition_architecture_interpretable 20 0 38 Fetal_akinesia_deformation_sequence_3 144 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOCK6 condition_not_provided condition not provided MedGen:C3661900 70 70 1.0000 condition_record_support_limited 20 70 15 not_provided 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CTSA mondo_mondo_0009737_medgen_c0268233_omim_256540_orphanet_351 Combined deficiency of sialidase AND beta galactosidase MONDO:MONDO:0009737,MedGen:C0268233,OMIM:256540,Orphanet:351 70 70 1.0000 condition_architecture_interpretable 20 0 10 Combined_deficiency_of_sialidase_AND_beta_galactosidase 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNS mondo_mondo_0016239_medgen_c4316899_orphanet_213 Cystinosis MONDO:MONDO:0016239,MedGen:C4316899,Orphanet:213 70 70 1.0000 condition_architecture_interpretable 20 0 51 Cystinosis 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ8A condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 70 70 1.0000 condition_record_support_limited 20 70 31 See_cases|not_provided 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN6 mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 Neuronal ceroid lipofuscinosis MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 70 70 1.0000 condition_architecture_interpretable 20 0 33 Neuronal_ceroid_lipofuscinosis 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP290 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 70 70 1.0000 condition_architecture_interpretable 20 0 56 Retinal_dystrophy 949 large_gene_or_donor_burden_stress_case donor_burden_stress CASK condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 70 70 1.0000 condition_record_support_limited 20 70 27 not_provided 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP13A2 mondo_mondo_0014975_medgen_c5567893_omim_617225_orphanet_513436 Autosomal recessive spastic paraplegia type 78 MONDO:MONDO:0014975,MedGen:C5567893,OMIM:617225,Orphanet:513436 70 70 1.0000 condition_architecture_interpretable 20 0 63 Autosomal_recessive_spastic_paraplegia_type_78 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP3B1 mondo_mondo_0011997_medgen_c1842362_omim_608233_orphanet_183678_orphanet_79430 Hermansky-Pudlak syndrome 2 MONDO:MONDO:0011997,MedGen:C1842362,OMIM:608233,Orphanet:183678,Orphanet:79430 70 70 1.0000 condition_architecture_interpretable 20 0 2 Hermansky-Pudlak_syndrome_2 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTS13 mondo_mondo_0010122_medgen_c1268935_omim_274150_orphanet_93583 Upshaw-Schulman syndrome MONDO:MONDO:0010122,MedGen:C1268935,OMIM:274150,Orphanet:93583 70 70 1.0000 condition_architecture_interpretable 20 0 25 Upshaw-Schulman_syndrome 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D24 mondo_mondo_0010632_medgen_c3463992_omim_308350 Developmental and epileptic encephalopathy, 1 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 69 69 1.0000 condition_architecture_interpretable 20 0 69 Developmental_and_epileptic_encephalopathy,_1 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAR condition_not_provided condition not provided MedGen:C3661900 69 69 1.0000 condition_record_support_limited 20 69 41 not_provided 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SI mondo_mondo_0009114_medgen_c1283620_omim_222900_orphanet_35122 Sucrase-isomaltase deficiency MONDO:MONDO:0009114,MedGen:C1283620,OMIM:222900,Orphanet:35122 69 69 1.0000 condition_architecture_interpretable 20 0 31 Sucrase-isomaltase_deficiency 162 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SEPSECS condition_not_provided condition not provided MedGen:C3661900 69 69 1.0000 condition_record_support_limited 20 69 25 not_provided 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN4A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 69 69 1.0000 condition_record_support_limited 20 69 60 not_provided|not_specified 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SATB2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 69 69 1.0000 condition_record_support_limited 20 69 24 See_cases|not_provided 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RASA1 mondo_mondo_0020783_medgen_c4747394_omim_608354_orphanet_137667 Capillary malformation-arteriovenous malformation 1 MONDO:MONDO:0020783,MedGen:C4747394,OMIM:608354,Orphanet:137667 69 69 1.0000 condition_architecture_interpretable 20 0 23 Capillary_malformation-arteriovenous_malformation_1 285 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX7 mondo_mondo_0008972_medgen_c1859133_omim_215100_orphanet_177_orphanet_309789 Rhizomelic chondrodysplasia punctata type 1 MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100,Orphanet:177,Orphanet:309789 69 69 1.0000 condition_architecture_interpretable 20 0 42 Rhizomelic_chondrodysplasia_punctata_type_1 142 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX5 mondo_mondo_0008736_medgen_c3550234_omim_202370_orphanet_44 Peroxisome biogenesis disorder 2B MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44 69 69 1.0000 condition_architecture_interpretable 20 0 21 Peroxisome_biogenesis_disorder_2B 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCLO condition_not_provided condition not provided MedGen:C3661900 69 69 1.0000 condition_record_support_limited 20 69 1 not_provided 73 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MTRR mondo_mondo_0011120_medgen_c1866558_omim_601634_orphanet_823 Neural tube defects, folate-sensitive MONDO:MONDO:0011120,MedGen:C1866558,OMIM:601634,Orphanet:823 69 69 1.0000 condition_architecture_interpretable 20 0 47 Neural_tube_defects,_folate-sensitive 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MLC1 condition_not_provided condition not provided MedGen:C3661900 69 69 1.0000 condition_record_support_limited 20 69 45 not_provided 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMA1 mondo_mondo_0014419_medgen_c4014821_omim_615960_orphanet_370022 Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:MONDO:0014419,MedGen:C4014821,OMIM:615960,Orphanet:370022 69 69 1.0000 condition_architecture_interpretable 20 0 15 Ataxia_-_intellectual_disability_-_oculomotor_apraxia_-_cerebellar_cysts_syndrome 125 large_gene_or_donor_burden_stress_case donor_burden_stress L1CAM human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 69 69 1.0000 condition_architecture_interpretable 20 0 28 Spastic_paraplegia 203 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGB4 mondo_mondo_0009183_medgen_c5676875_omim_226730_orphanet_79403 Junctional epidermolysis bullosa with pyloric atresia MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403 69 69 1.0000 condition_architecture_interpretable 20 0 51 Junctional_epidermolysis_bullosa_with_pyloric_atresia 160 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture HBB mondo_mondo_0020989_medgen_c0019025_omim_141749 Hereditary persistence of fetal hemoglobin MONDO:MONDO:0020989,MedGen:C0019025,OMIM:141749 69 69 1.0000 condition_architecture_interpretable 20 0 69 Hereditary_persistence_of_fetal_hemoglobin 428 compact_adjacent_exon_block_opportunity local_compact_architecture FZD4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 69 69 1.0000 condition_record_support_limited 20 69 8 not_provided 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXN1 mondo_mondo_0011132_medgen_c1866426_omim_601705_orphanet_169095 T-cell immunodeficiency, congenital alopecia, and nail dystrophy MONDO:MONDO:0011132,MedGen:C1866426,OMIM:601705,Orphanet:169095 69 69 1.0000 condition_architecture_interpretable 20 0 23 T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSC2 mondo_mondo_0012506_medgen_c1864850_omim_610476 Arrhythmogenic right ventricular dysplasia 11 MONDO:MONDO:0012506,MedGen:C1864850,OMIM:610476 69 69 1.0000 condition_architecture_interpretable 20 0 19 Arrhythmogenic_right_ventricular_dysplasia_11 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A4 mondo_mondo_0957317_medgen_c0241908_omim_ps141200 Benign familial hematuria MONDO:MONDO:0957317,MedGen:C0241908,OMIM:PS141200 69 69 1.0000 condition_architecture_interpretable 20 0 56 Benign_familial_hematuria 860 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CASR mondo_mondo_0007791_medgen_c0342637_omim_145980_orphanet_405_orphanet_93372 Familial hypocalciuric hypercalcemia 1 MONDO:MONDO:0007791,MedGen:C0342637,OMIM:145980,Orphanet:405,Orphanet:93372 69 69 1.0000 condition_architecture_interpretable 20 0 49 Familial_hypocalciuric_hypercalcemia_1 313 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCS1L mondo_mondo_0009872_medgen_c0266006_omim_262000_orphanet_123 Pili torti-deafness syndrome MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000,Orphanet:123 69 69 1.0000 condition_architecture_interpretable 20 0 57 Pili_torti-deafness_syndrome 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 69 69 1.0000 condition_record_support_limited 20 69 17 not_provided 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA3 mondo_mondo_0012582_medgen_c1970456_omim_610921_orphanet_440402 Interstitial lung disease due to ABCA3 deficiency MONDO:MONDO:0012582,MedGen:C1970456,OMIM:610921,Orphanet:440402 69 69 1.0000 condition_architecture_interpretable 20 0 29 Interstitial_lung_disease_due_to_ABCA3_deficiency 135 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture WT1 mondo_mondo_0008681_medgen_c0206115_omim_194072_orphanet_893 11p partial monosomy syndrome MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072,Orphanet:893 68 68 1.0000 condition_architecture_interpretable 20 0 68 11p_partial_monosomy_syndrome 153 compact_adjacent_exon_block_opportunity local_compact_architecture TRIO mondo_mondo_0014892_medgen_c4310740_omim_617061_orphanet_476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome MONDO:MONDO:0014892,MedGen:C4310740,OMIM:617061,Orphanet:476126 68 68 1.0000 condition_architecture_interpretable 20 0 22 Micrognathia-recurrent_infections-behavioral_abnormalities-mild_intellectual_disability_syndrome 175 large_gene_or_donor_burden_stress_case donor_burden_stress TAT mondo_mondo_0010160_medgen_c0268487_omim_276600_orphanet_28378 Tyrosinemia type II MONDO:MONDO:0010160,MedGen:C0268487,OMIM:276600,Orphanet:28378 68 68 1.0000 condition_architecture_interpretable 20 0 3 Tyrosinemia_type_II 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAT3 mondo_mondo_0007818_medgen_c2936739_omim_147060_orphanet_2314 Hyper-IgE recurrent infection syndrome 1, autosomal dominant MONDO:MONDO:0007818,MedGen:C2936739,OMIM:147060,Orphanet:2314 68 68 1.0000 condition_architecture_interpretable 20 0 54 Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCO2 condition_not_provided condition not provided MedGen:C3661900 68 68 1.0000 condition_record_support_limited 20 68 26 not_provided 110 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SCN5A efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 Cardiac arrhythmia EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 68 68 1.0000 condition_architecture_interpretable 20 0 56 Cardiac_arrhythmia 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 68 68 1.0000 condition_architecture_interpretable 20 0 42 Inborn_genetic_diseases 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A mondo_mondo_0030268_medgen_c5543353_omim_619317 Developmental and epileptic encephalopathy 6B MONDO:MONDO:0030268,MedGen:C5543353,OMIM:619317 68 68 1.0000 condition_architecture_interpretable 20 0 55 Developmental_and_epileptic_encephalopathy_6B 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PUF60 mondo_mondo_0014263_medgen_c3810023_omim_615583_orphanet_508488 8q24.3 microdeletion syndrome MONDO:MONDO:0014263,MedGen:C3810023,OMIM:615583,Orphanet:508488 68 68 1.0000 condition_architecture_interpretable 20 0 21 8q24.3_microdeletion_syndrome 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 68 68 1.0000 condition_record_support_limited 20 68 60 not_provided|not_specified 469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEPD condition_not_provided condition not provided MedGen:C3661900 68 68 1.0000 condition_record_support_limited 20 68 20 not_provided 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 mondo_mondo_0014163_medgen_c3715165_omim_615396_orphanet_154_orphanet_54260 Left ventricular noncompaction 10 MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396,Orphanet:154,Orphanet:54260 68 68 1.0000 condition_architecture_interpretable 20 0 67 Left_ventricular_noncompaction_10 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTM1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 68 68 1.0000 condition_record_support_limited 20 68 39 not_provided|not_specified 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KMT2C mondo_mondo_0054701_medgen_c4540395_omim_617768 Kleefstra syndrome 2 MONDO:MONDO:0054701,MedGen:C4540395,OMIM:617768 68 68 1.0000 condition_architecture_interpretable 20 0 16 Kleefstra_syndrome_2 174 large_gene_or_donor_burden_stress_case donor_burden_stress IRF6 mondo_mondo_0012141_medgen_c1837213_omim_608864 Orofacial cleft 6, susceptibility to MONDO:MONDO:0012141,MedGen:C1837213,OMIM:608864 68 68 1.0000 condition_architecture_interpretable 20 0 68 Orofacial_cleft_6,_susceptibility_to 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMBS mondo_mondo_0008294_medgen_c0162565_omim_176000_orphanet_79276 Acute intermittent porphyria MONDO:MONDO:0008294,MedGen:C0162565,OMIM:176000,Orphanet:79276 68 68 1.0000 condition_architecture_interpretable 20 0 30 Acute_intermittent_porphyria 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCLRE1C mondo_mondo_0011338_medgen_c2700553_omim_603554_orphanet_39041 Histiocytic medullary reticulosis MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554,Orphanet:39041 68 68 1.0000 condition_architecture_interpretable 20 0 37 Histiocytic_medullary_reticulosis 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL7 mondo_mondo_0010117_medgen_c2678312_omim_273750_orphanet_2616 3M syndrome 1 MONDO:MONDO:0010117,MedGen:C2678312,OMIM:273750,Orphanet:2616 68 68 1.0000 condition_architecture_interpretable 20 0 20 3M_syndrome_1 126 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture C2CD3 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 68 68 1.0000 condition_record_support_limited 20 68 9 See_cases|not_provided 82 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BTK condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 68 68 1.0000 condition_record_support_limited 20 68 25 not_provided|not_specified 348 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARID1A mondo_mondo_0013819_medgen_c3553247_omim_614607_orphanet_1465 Intellectual disability, autosomal dominant 14 MONDO:MONDO:0013819,MedGen:C3553247,OMIM:614607,Orphanet:1465 68 68 1.0000 condition_architecture_interpretable 20 0 17 Intellectual_disability,_autosomal_dominant_14 141 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture WDR62 mondo_mondo_0011435_medgen_c1858535_omim_604317_orphanet_2512 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512 67 67 1.0000 condition_architecture_interpretable 20 0 16 Microcephaly_2,_primary,_autosomal_recessive,_with_or_without_cortical_malformations 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIP11 mondo_mondo_0008701_medgen_c0265273_omim_200600_orphanet_932_orphanet_93299 Achondrogenesis, type IA MONDO:MONDO:0008701,MedGen:C0265273,OMIM:200600,Orphanet:932,Orphanet:93299 67 67 1.0000 condition_architecture_interpretable 20 0 8 Achondrogenesis,_type_IA 87 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SDHC human_phenotype_ontology_hp_0100723_mondo_mondo_0011719_mesh_d046152_medgen_c0238198_omim_606764_orphanet_44890 Gastrointestinal stromal tumor Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890 67 67 1.0000 condition_architecture_interpretable 20 0 67 Gastrointestinal_stromal_tumor 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSAP mondo_mondo_0009590_medgen_c0268262_omim_249900_orphanet_512 Sphingolipid activator protein 1 deficiency MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orphanet:512 67 67 1.0000 condition_architecture_interpretable 20 0 28 Sphingolipid_activator_protein_1_deficiency 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 67 67 1.0000 condition_architecture_interpretable 20 0 49 Inborn_genetic_diseases 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NFIX mondo_mondo_0011244_medgen_c0265211_omim_602535_orphanet_561 Marshall-Smith syndrome MONDO:MONDO:0011244,MedGen:C0265211,OMIM:602535,Orphanet:561 67 67 1.0000 condition_architecture_interpretable 20 0 39 Marshall-Smith_syndrome 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NALCN mondo_mondo_0014556_medgen_c4225398_omim_616266_orphanet_562528 Congenital contractures of the limbs and face, hypotonia, and developmental delay MONDO:MONDO:0014556,MedGen:C4225398,OMIM:616266,Orphanet:562528 67 67 1.0000 condition_architecture_interpretable 20 0 26 Congenital_contractures_of_the_limbs_and_face,_hypotonia,_and_developmental_delay 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO7A human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 67 67 1.0000 condition_architecture_interpretable 20 0 60 Retinal_dystrophy 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture GRIN2A condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 67 67 1.0000 condition_record_support_limited 20 67 40 See_cases|not_provided 291 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 mondo_mondo_0007043_medgen_c0220658_omim_101600_orphanet_710 Pfeiffer syndrome MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orphanet:710 67 67 1.0000 condition_architecture_interpretable 20 0 66 Pfeiffer_syndrome 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN6 mondo_mondo_0011144_medgen_c5551375_omim_601780_orphanet_168491_orphanet_228363 Ceroid lipofuscinosis, neuronal, 6A MONDO:MONDO:0011144,MedGen:C5551375,OMIM:601780,Orphanet:168491,Orphanet:228363 67 67 1.0000 condition_architecture_interpretable 20 0 47 Ceroid_lipofuscinosis,_neuronal,_6A 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBS human_phenotype_ontology_hp_0002156_mondo_mondo_0004737_medgen_c0019880 Homocystinuria Human_Phenotype_Ontology:HP:0002156,MONDO:MONDO:0004737,MedGen:C0019880 67 67 1.0000 condition_architecture_interpretable 20 0 60 Homocystinuria 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CARMIL2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 67 67 1.0000 condition_record_support_limited 20 67 7 not_provided 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA2 human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Prostate cancer Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 67 67 1.0000 condition_architecture_interpretable 20 0 66 Prostate_cancer 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ADSL mondo_mondo_0007068_medgen_c0268126_omim_103050_orphanet_46 Adenylosuccinate lyase deficiency MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050,Orphanet:46 67 67 1.0000 condition_architecture_interpretable 20 0 23 Adenylosuccinate_lyase_deficiency 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 67 67 1.0000 condition_record_support_limited 20 67 27 See_cases|not_provided 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XPA condition_not_provided condition not provided MedGen:C3661900 66 66 1.0000 condition_record_support_limited 20 66 36 not_provided 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCN2 mondo_mondo_0010149_medgen_c0342701_omim_275350_orphanet_859 Transcobalamin II deficiency MONDO:MONDO:0010149,MedGen:C0342701,OMIM:275350,Orphanet:859 66 66 1.0000 condition_architecture_interpretable 20 0 9 Transcobalamin_II_deficiency 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCK mondo_mondo_0014823_medgen_c5567480_omim_616900_orphanet_488632 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 MONDO:MONDO:0014823,MedGen:C5567480,OMIM:616900,Orphanet:488632 66 66 1.0000 condition_architecture_interpretable 20 0 37 Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SON condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 66 66 1.0000 condition_record_support_limited 20 66 14 See_cases|not_provided 148 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RASA1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 66 66 1.0000 condition_record_support_limited 20 66 31 See_cases|not_provided|not_specified 285 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAG2 mondo_mondo_0011338_medgen_c2700553_omim_603554_orphanet_39041 Histiocytic medullary reticulosis MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554,Orphanet:39041 66 66 1.0000 condition_architecture_interpretable 20 0 55 Histiocytic_medullary_reticulosis 147 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 mondo_mondo_0007979_medgen_c0410530_omim_156250_orphanet_2499 Metachondromatosis MONDO:MONDO:0007979,MedGen:C0410530,OMIM:156250,Orphanet:2499 66 66 1.0000 condition_architecture_interpretable 20 0 52 Metachondromatosis 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMADHC mondo_mondo_0010185_medgen_c1848552_omim_277410_orphanet_622_orphanet_79283 Methylmalonic aciduria and homocystinuria type cblD MONDO:MONDO:0010185,MedGen:C1848552,OMIM:277410,Orphanet:622,Orphanet:79283 66 66 1.0000 condition_architecture_interpretable 20 0 13 Methylmalonic_aciduria_and_homocystinuria_type_cblD 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MKKS mondo_mondo_0011523_medgen_c1858054_omim_605231_orphanet_110 Bardet-Biedl syndrome 6 MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231,Orphanet:110 66 66 1.0000 condition_architecture_interpretable 20 0 38 Bardet-Biedl_syndrome_6 124 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF4A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 66 66 1.0000 condition_record_support_limited 20 66 44 not_provided|not_specified 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNE condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 66 66 1.0000 condition_record_support_limited 20 66 56 not_provided 223 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCH1 mondo_mondo_0100184_medgen_c0268467 GTP cyclohydrolase I deficiency MONDO:MONDO:0100184,MedGen:C0268467 66 66 1.0000 condition_architecture_interpretable 20 0 64 GTP_cyclohydrolase_I_deficiency 113 compact_adjacent_exon_block_opportunity local_compact_architecture FGFR2 condition_not_provided condition not provided .|MedGen:C3661900 66 66 1.0000 condition_record_support_limited 20 66 49 .|not_provided 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL4 mondo_mondo_0014198_medgen_c3809592_omim_615471_orphanet_369897 Mitochondrial DNA depletion syndrome 13 MONDO:MONDO:0014198,MedGen:C3809592,OMIM:615471,Orphanet:369897 66 66 1.0000 condition_architecture_interpretable 20 0 26 Mitochondrial_DNA_depletion_syndrome_13 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC2 mondo_mondo_0010212_medgen_c0268138_omim_278730 Xeroderma pigmentosum, group D MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730 66 66 1.0000 condition_architecture_interpretable 20 0 57 Xeroderma_pigmentosum,_group_D 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT3A condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 66 66 1.0000 condition_record_support_limited 20 66 21 See_cases|not_provided|not_specified 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNE mondo_mondo_0012157_medgen_c1837091_omim_608931_orphanet_590 Congenital myasthenic syndrome 4C MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orphanet:590 66 66 1.0000 condition_architecture_interpretable 20 0 59 Congenital_myasthenic_syndrome_4C 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A condition_not_provided condition not provided MedGen:C3661900 66 66 1.0000 condition_record_support_limited 20 66 48 not_provided 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APRT mondo_mondo_0013869_medgen_c0268120_omim_614723_orphanet_976 Adenine phosphoribosyltransferase deficiency MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723,Orphanet:976 66 66 1.0000 condition_architecture_interpretable 20 0 7 Adenine_phosphoribosyltransferase_deficiency 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APC mondo_mondo_0021057_medgen_cn372698 Classic or attenuated familial adenomatous polyposis MONDO:MONDO:0021057,MedGen:CN372698 66 66 1.0000 condition_architecture_interpretable 20 0 59 Classic_or_attenuated_familial_adenomatous_polyposis 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ACOX1 mondo_mondo_0009919_medgen_c1849678_omim_264470_orphanet_2971 Acyl-CoA oxidase deficiency MONDO:MONDO:0009919,MedGen:C1849678,OMIM:264470,Orphanet:2971 66 66 1.0000 condition_architecture_interpretable 20 0 21 Acyl-CoA_oxidase_deficiency 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACADM condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 66 66 1.0000 condition_record_support_limited 20 66 59 See_cases|not_provided|not_specified 370 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAT1 mondo_mondo_0013599_medgen_c3279990_omim_614162_orphanet_391487 Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:MONDO:0013599,MedGen:C3279990,OMIM:614162,Orphanet:391487 65 65 1.0000 condition_architecture_interpretable 20 0 47 Autoimmune_enteropathy_and_endocrinopathy_-_susceptibility_to_chronic_infections_syndrome 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A1 mondo_mondo_0100344_medgen_c1866495_omim_601678_orphanet_112_orphanet_620217 Bartter disease type 1 MONDO:MONDO:0100344,MedGen:C1866495,OMIM:601678,Orphanet:112,Orphanet:620217 65 65 1.0000 condition_architecture_interpretable 20 0 36 Bartter_disease_type_1 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETBP1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 65 65 1.0000 condition_record_support_limited 20 65 19 See_cases|not_provided 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture QARS1 mondo_mondo_0014335_medgen_c4014239_omim_615760_orphanet_404437 Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760,Orphanet:404437 65 65 1.0000 condition_architecture_interpretable 20 0 7 Diffuse_cerebral_and_cerebellar_atrophy_-_intractable_seizures_-_progressive_microcephaly_syndrome 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMS2 mondo_mondo_0030843_medgen_c5436817_omim_619101 Mismatch repair cancer syndrome 4 MONDO:MONDO:0030843,MedGen:C5436817,OMIM:619101 65 65 1.0000 condition_architecture_interpretable 20 0 59 Mismatch_repair_cancer_syndrome_4 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMP22 mondo_mondo_0019011_medgen_c0751036_orphanet_65753 Charcot-Marie-Tooth disease, type I MONDO:MONDO:0019011,MedGen:C0751036,Orphanet:65753 65 65 1.0000 condition_architecture_interpretable 20 0 38 Charcot-Marie-Tooth_disease,_type_I 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MUSK mondo_mondo_0014587_medgen_c4225368_omim_616325_orphanet_590 Congenital myasthenic syndrome 9 MONDO:MONDO:0014587,MedGen:C4225368,OMIM:616325,Orphanet:590 65 65 1.0000 condition_architecture_interpretable 20 0 59 Congenital_myasthenic_syndrome_9 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTO1 mondo_mondo_0013865_medgen_c4749921_omim_614702_orphanet_314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency MONDO:MONDO:0013865,MedGen:C4749921,OMIM:614702,Orphanet:314637 65 65 1.0000 condition_architecture_interpretable 20 0 9 Mitochondrial_hypertrophic_cardiomyopathy_with_lactic_acidosis_due_to_MTO1_deficiency 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IRF6 mondo_mondo_0019508_medgen_c0175697_orphanet_888 Van der Woude syndrome MONDO:MONDO:0019508,MedGen:C0175697,Orphanet:888 65 65 1.0000 condition_architecture_interpretable 20 0 64 Van_der_Woude_syndrome 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSD17B4 mondo_mondo_0009300_medgen_c4551721_omim_233400_orphanet_2855_orphanet_642945 Perrault syndrome 1 MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400,Orphanet:2855,Orphanet:642945 65 65 1.0000 condition_architecture_interpretable 20 0 56 Perrault_syndrome_1 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBN1 mondo_mondo_0014831_medgen_c4310796_omim_616914_orphanet_300382 Progeroid and marfanoid aspect-lipodystrophy syndrome MONDO:MONDO:0014831,MedGen:C4310796,OMIM:616914,Orphanet:300382 65 65 1.0000 condition_architecture_interpretable 20 0 56 Progeroid_and_marfanoid_aspect-lipodystrophy_syndrome 3554 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH5 condition_not_provided condition not provided MedGen:C3661900 65 65 1.0000 condition_record_support_limited 20 65 58 not_provided 1093 large_gene_or_donor_burden_stress_case donor_burden_stress DEAF1 condition_not_provided condition not provided .|MedGen:C3661900 65 65 1.0000 condition_record_support_limited 20 65 12 See_cases|not_provided 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP27B1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 65 65 1.0000 condition_record_support_limited 20 65 25 not_provided 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSK condition_not_provided condition not provided MedGen:C3661900 65 65 1.0000 condition_record_support_limited 20 65 39 not_provided 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B mondo_mondo_0032889_medgen_c5231482_omim_618732_orphanet_689397 Poirier-Bienvenu neurodevelopmental syndrome MONDO:MONDO:0032889,MedGen:C5231482,OMIM:618732,Orphanet:689397 65 65 1.0000 condition_architecture_interpretable 20 0 30 Poirier-Bienvenu_neurodevelopmental_syndrome 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN7 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 65 65 1.0000 condition_record_support_limited 20 65 13 not_provided 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP8B1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 65 65 1.0000 condition_record_support_limited 20 65 30 not_provided|not_specified 131 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALPK3 mondo_mondo_0054838_medgen_c4748014_omim_618052 Cardiomyopathy, familial hypertrophic 27 MONDO:MONDO:0054838,MedGen:C4748014,OMIM:618052 65 65 1.0000 condition_architecture_interpretable 20 0 30 Cardiomyopathy,_familial_hypertrophic_27 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB mondo_mondo_0009470_medgen_c1855722_omim_243310_orphanet_2649_orphanet_2995 Baraitser-Winter syndrome 1 MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995 65 65 1.0000 condition_architecture_interpretable 20 0 37 Baraitser-Winter_syndrome_1 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 65 65 1.0000 condition_record_support_limited 20 65 42 not_provided|not_specified 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WNK1 mondo_mondo_0024309_medgen_c2752089_omim_201300_orphanet_970 Neuropathy, hereditary sensory and autonomic, type 2A MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970 64 64 1.0000 condition_architecture_interpretable 20 0 47 Neuropathy,_hereditary_sensory_and_autonomic,_type_2A 71 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture WDR45 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 64 64 1.0000 condition_record_support_limited 20 64 33 not_provided 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSPAN1 mondo_mondo_0018939_medgen_c0457133_orphanet_588_orphanet_899 Muscle eye brain disease MONDO:MONDO:0018939,MedGen:C0457133,Orphanet:588,Orphanet:899 64 64 1.0000 condition_architecture_interpretable 20 0 46 Muscle_eye_brain_disease 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN54 condition_not_provided condition not provided MedGen:C3661900 64 64 1.0000 condition_record_support_limited 20 64 13 not_provided 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TREX1 mondo_mondo_0009165_medgen_c0796126_omim_225750_orphanet_51 Aicardi-Goutieres syndrome 1 MONDO:MONDO:0009165,MedGen:C0796126,OMIM:225750,Orphanet:51 64 64 1.0000 condition_architecture_interpretable 20 0 53 Aicardi-Goutieres_syndrome_1 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMPRSS3 mondo_mondo_0010987_medgen_c1832827_omim_601072_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 8 MONDO:MONDO:0010987,MedGen:C1832827,OMIM:601072,Orphanet:90636 64 64 1.0000 condition_architecture_interpretable 20 0 34 Autosomal_recessive_nonsyndromic_hearing_loss_8 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCK condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 64 64 1.0000 condition_record_support_limited 20 64 35 not_provided 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC7A9 human_phenotype_ontology_hp_0003131_mondo_mondo_0009067_medgen_c0010691_omim_220100_orphanet_214 Cystinuria Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214 64 64 1.0000 condition_architecture_interpretable 20 0 17 Cystinuria 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN1A mondo_mondo_0012320_medgen_c1864987_omim_609634_orphanet_569 Migraine, familial hemiplegic, 3 MONDO:MONDO:0012320,MedGen:C1864987,OMIM:609634,Orphanet:569 64 64 1.0000 condition_architecture_interpretable 20 0 50 Migraine,_familial_hemiplegic,_3 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RUNX1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 64 64 1.0000 condition_record_support_limited 20 64 59 not_provided|not_specified 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 64 64 1.0000 condition_record_support_limited 20 64 50 not_provided|not_specified 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture REEP1 mondo_mondo_0012453_medgen_c1853247_omim_610250_orphanet_101011 Hereditary spastic paraplegia 31 MONDO:MONDO:0012453,MedGen:C1853247,OMIM:610250,Orphanet:101011 64 64 1.0000 condition_architecture_interpretable 20 0 20 Hereditary_spastic_paraplegia_31 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKHD1 pkhd1_related_disorder PKHD1-related disorder . 64 64 1.0000 condition_architecture_interpretable 20 0 60 PKHD1-related_disorder 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PGM3 mondo_mondo_0014353_medgen_c4014371_omim_615816_orphanet_443811 Immunodeficiency 23 MONDO:MONDO:0014353,MedGen:C4014371,OMIM:615816,Orphanet:443811 64 64 1.0000 condition_architecture_interpretable 20 0 10 Immunodeficiency_23 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIX condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 64 64 1.0000 condition_record_support_limited 20 64 19 See_cases|not_provided 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCF2 mondo_mondo_0009310_medgen_c1856245_omim_233710_orphanet_379 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 MONDO:MONDO:0009310,MedGen:C1856245,OMIM:233710,Orphanet:379 64 64 1.0000 condition_architecture_interpretable 20 0 15 Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_2 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMA1 condition_not_provided condition not provided MedGen:C3661900 64 64 1.0000 condition_record_support_limited 20 64 14 not_provided 125 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2E condition_not_provided condition not provided .|MedGen:C3661900 64 64 1.0000 condition_record_support_limited 20 64 20 See_cases|not_provided 136 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture IQCB1 mondo_mondo_0012225_medgen_c1836517_omim_609254_orphanet_3156 Senior-Loken syndrome 5 MONDO:MONDO:0012225,MedGen:C1836517,OMIM:609254,Orphanet:3156 64 64 1.0000 condition_architecture_interpretable 20 0 26 Senior-Loken_syndrome_5 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDUA mondo_mondo_0011760_medgen_c0026708_omim_607016_orphanet_93474 Mucopolysaccharidosis, MPS-I-S MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016,Orphanet:93474 64 64 1.0000 condition_architecture_interpretable 20 0 62 Mucopolysaccharidosis,_MPS-I-S 419 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 64 64 1.0000 condition_architecture_interpretable 20 0 60 Nonsyndromic_genetic_hearing_loss 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATAD2B mondo_mondo_0014034_medgen_c3554448_omim_615074_orphanet_363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074,Orphanet:363686 64 64 1.0000 condition_architecture_interpretable 20 0 22 Severe_intellectual_disability-poor_language-strabismus-grimacing_face-long_fingers_syndrome 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXL2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 64 64 1.0000 condition_record_support_limited 20 64 19 not_provided|not_specified 174 single_exon_hotspot_opportunity local_compact_architecture CYBA mondo_mondo_0009308_medgen_c1856255_omim_233690_orphanet_379 Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative MONDO:MONDO:0009308,MedGen:C1856255,OMIM:233690,Orphanet:379 64 64 1.0000 condition_architecture_interpretable 20 0 27 Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-negative 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL7A1 col7a1_related_disorder COL7A1-related disorder . 64 64 1.0000 condition_architecture_interpretable 20 0 54 COL7A1-related_disorder 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COG5 mondo_mondo_0013325_medgen_c3150876_omim_613612_orphanet_263487 COG5-congenital disorder of glycosylation MONDO:MONDO:0013325,MedGen:C3150876,OMIM:613612,Orphanet:263487 64 64 1.0000 condition_architecture_interpretable 20 0 6 COG5-congenital_disorder_of_glycosylation 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCNH mondo_mondo_0020783_medgen_c4747394_omim_608354_orphanet_137667 Capillary malformation-arteriovenous malformation 1 MONDO:MONDO:0020783,MedGen:C4747394,OMIM:608354,Orphanet:137667 64 64 1.0000 condition_architecture_interpretable 20 0 20 Capillary_malformation-arteriovenous_malformation_1 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BTD condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 64 64 1.0000 condition_record_support_limited 20 64 57 not_provided|not_specified 251 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2A1 mondo_mondo_0010977_medgen_c1832918_omim_601003_orphanet_53347 Brody myopathy MONDO:MONDO:0010977,MedGen:C1832918,OMIM:601003,Orphanet:53347 64 64 1.0000 condition_architecture_interpretable 20 0 11 Brody_myopathy 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIPL1 mondo_mondo_0011458_medgen_c1858386_omim_604393 Leber congenital amaurosis 4 MONDO:MONDO:0011458,MedGen:C1858386,OMIM:604393 64 64 1.0000 condition_architecture_interpretable 20 0 25 Leber_congenital_amaurosis_4 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WAC mondo_mondo_0014741_medgen_c5681129_omim_616708_orphanet_284169_orphanet_466950 DeSanto-Shinawi syndrome due to WAC point mutation MONDO:MONDO:0014741,MedGen:C5681129,OMIM:616708,Orphanet:284169,Orphanet:466950 63 63 1.0000 condition_architecture_interpretable 20 0 16 DeSanto-Shinawi_syndrome_due_to_WAC_point_mutation 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMPD1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 63 63 1.0000 condition_record_support_limited 20 63 54 not_provided|not_specified 386 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RYR1 mondo_mondo_0020485_medgen_c1840365_omim_619542 King Denborough syndrome MONDO:MONDO:0020485,MedGen:C1840365,OMIM:619542 63 63 1.0000 condition_architecture_interpretable 20 0 59 King_Denborough_syndrome 770 large_gene_or_donor_burden_stress_case donor_burden_stress RIF1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 63 63 1.0000 condition_record_support_limited 20 63 54 See_cases|not_provided 500 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RDH12 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 63 63 1.0000 condition_architecture_interpretable 20 0 56 Leber_congenital_amaurosis 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6B mondo_mondo_0013429_medgen_c3151107_omim_613801_orphanet_791 Retinitis pigmentosa 40 MONDO:MONDO:0013429,MedGen:C3151107,OMIM:613801,Orphanet:791 63 63 1.0000 condition_architecture_interpretable 20 0 43 Retinitis_pigmentosa_40 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PARN mondo_mondo_0014612_medgen_c4225347_omim_616371_orphanet_2032 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 MONDO:MONDO:0014612,MedGen:C4225347,OMIM:616371,Orphanet:2032 63 63 1.0000 condition_architecture_interpretable 20 0 56 Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_4 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR2F1 mondo_mondo_0014320_medgen_c3810363_omim_615722_orphanet_401777 Bosch-Boonstra-Schaaf optic atrophy syndrome MONDO:MONDO:0014320,MedGen:C3810363,OMIM:615722,Orphanet:401777 63 63 1.0000 condition_architecture_interpretable 20 0 9 Bosch-Boonstra-Schaaf_optic_atrophy_syndrome 118 compact_adjacent_exon_block_opportunity local_compact_architecture NOTCH2 mondo_mondo_0007057_medgen_c0917715_omim_102500_orphanet_955 Hajdu-Cheney syndrome MONDO:MONDO:0007057,MedGen:C0917715,OMIM:102500,Orphanet:955 63 63 1.0000 condition_architecture_interpretable 20 0 16 Hajdu-Cheney_syndrome 98 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO6 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 63 63 1.0000 condition_record_support_limited 20 63 17 not_provided|not_specified 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED17 condition_not_provided condition not provided MedGen:C3661900 63 63 1.0000 condition_record_support_limited 20 63 17 not_provided 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM5C condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 63 63 1.0000 condition_record_support_limited 20 63 19 See_cases|not_provided 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KAT6B condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 63 63 1.0000 condition_record_support_limited 20 63 25 See_cases|not_provided 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture HNF1B condition_not_provided condition not provided MedGen:C3661900 63 63 1.0000 condition_record_support_limited 20 63 40 not_provided 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HDAC8 mondo_mondo_0010471_medgen_c3550903_omim_300882_orphanet_199 Cornelia de Lange syndrome 5 MONDO:MONDO:0010471,MedGen:C3550903,OMIM:300882,Orphanet:199 63 63 1.0000 condition_architecture_interpretable 20 0 11 Cornelia_de_Lange_syndrome_5 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPHN mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 63 63 1.0000 condition_architecture_interpretable 20 0 56 Leber_congenital_amaurosis 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EDA condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 63 63 1.0000 condition_record_support_limited 20 63 38 See_cases|not_provided 276 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX41 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 63 63 1.0000 condition_record_support_limited 20 63 37 not_provided 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRTAP mondo_mondo_0012536_medgen_c1853162_omim_610682 Osteogenesis imperfecta type 7 MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682 63 63 1.0000 condition_architecture_interpretable 20 0 9 Osteogenesis_imperfecta_type_7 66 compact_adjacent_exon_block_opportunity local_compact_architecture CPT2 mondo_mondo_0012136_medgen_c1833518_omim_608836_orphanet_228308 Carnitine palmitoyl transferase II deficiency, neonatal form MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308 63 63 1.0000 condition_architecture_interpretable 20 0 61 Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBS condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 63 63 1.0000 condition_record_support_limited 20 63 59 See_cases|not_provided|not_specified 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATRIP mondo_mondo_0009165_medgen_c0796126_omim_225750_orphanet_51 Aicardi-Goutieres syndrome 1 MONDO:MONDO:0009165,MedGen:C0796126,OMIM:225750,Orphanet:51 63 63 1.0000 condition_architecture_interpretable 20 0 53 Aicardi-Goutieres_syndrome_1 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATM mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 63 63 1.0000 condition_architecture_interpretable 20 0 52 Malignant_tumor_of_breast 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ARX mondo_mondo_0010632_medgen_c3463992_omim_308350 Developmental and epileptic encephalopathy, 1 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 63 63 1.0000 condition_architecture_interpretable 20 0 46 Developmental_and_epileptic_encephalopathy,_1 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TWIST1 mondo_mondo_0007399_medgen_c4551902_omim_123100_orphanet_63440 TWIST1-related craniosynostosis MONDO:MONDO:0007399,MedGen:C4551902,OMIM:123100,Orphanet:63440 62 62 1.0000 condition_architecture_interpretable 20 0 61 TWIST1-related_craniosynostosis 96 compact_adjacent_exon_block_opportunity local_compact_architecture TTR cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 62 62 1.0000 condition_architecture_interpretable 20 0 59 Cardiovascular_phenotype 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPO mondo_mondo_0010133_medgen_c1291299_omim_274500_orphanet_95716 Deficiency of iodide peroxidase MONDO:MONDO:0010133,MedGen:C1291299,OMIM:274500,Orphanet:95716 62 62 1.0000 condition_architecture_interpretable 20 0 30 Deficiency_of_iodide_peroxidase 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TK2 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 62 62 1.0000 condition_architecture_interpretable 20 0 35 Mitochondrial_disease 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG7 condition_not_provided condition not provided MedGen:C3661900 62 62 1.0000 condition_record_support_limited 20 62 48 not_provided 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 62 62 1.0000 condition_record_support_limited 20 62 26 not_provided 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC34A3 mondo_mondo_0009431_medgen_c1853271_omim_241530_orphanet_157215 Autosomal recessive hypophosphatemic bone disease MONDO:MONDO:0009431,MedGen:C1853271,OMIM:241530,Orphanet:157215 62 62 1.0000 condition_architecture_interpretable 20 0 25 Autosomal_recessive_hypophosphatemic_bone_disease 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A4 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 62 62 1.0000 condition_architecture_interpretable 20 0 60 Rare_genetic_deafness 631 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RTTN condition_not_provided condition not provided .|MedGen:C3661900 62 62 1.0000 condition_record_support_limited 20 62 11 See_cases|not_provided 82 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PYGL mondo_mondo_0009294_medgen_c0017925_omim_232700_orphanet_369 Glycogen storage disease, type VI MONDO:MONDO:0009294,MedGen:C0017925,OMIM:232700,Orphanet:369 62 62 1.0000 condition_architecture_interpretable 20 0 8 Glycogen_storage_disease,_type_VI 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PARN mondo_mondo_0014600_medgen_c4225356_omim_616353 Dyskeratosis congenita, autosomal recessive 6 MONDO:MONDO:0014600,MedGen:C4225356,OMIM:616353 62 62 1.0000 condition_architecture_interpretable 20 0 55 Dyskeratosis_congenita,_autosomal_recessive_6 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NBAS mondo_mondo_0014659_medgen_c3809651_omim_616483 Infantile liver failure syndrome 2 MONDO:MONDO:0014659,MedGen:C3809651,OMIM:616483 62 62 1.0000 condition_architecture_interpretable 20 0 46 Infantile_liver_failure_syndrome_2 245 large_gene_or_donor_burden_stress_case donor_burden_stress MSH2 mondo_mondo_0030840_medgen_c5436806_omim_619096 Mismatch repair cancer syndrome 2 MONDO:MONDO:0030840,MedGen:C5436806,OMIM:619096 62 62 1.0000 condition_architecture_interpretable 20 0 62 Mismatch_repair_cancer_syndrome_2 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MLYCD mondo_mondo_0009556_medgen_c0342793_omim_248360_orphanet_943 Deficiency of malonyl-CoA decarboxylase MONDO:MONDO:0009556,MedGen:C0342793,OMIM:248360,Orphanet:943 62 62 1.0000 condition_architecture_interpretable 20 0 3 Deficiency_of_malonyl-CoA_decarboxylase 68 compact_adjacent_exon_block_opportunity local_compact_architecture LZTR1 mondo_mondo_0011531_medgen_c1854469_omim_605275_orphanet_648 Noonan syndrome 2 MONDO:MONDO:0011531,MedGen:C1854469,OMIM:605275,Orphanet:648 62 62 1.0000 condition_architecture_interpretable 20 0 54 Noonan_syndrome_2 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KAT6B mondo_mondo_0011365_medgen_c1863557_omim_603736_orphanet_3047 Blepharophimosis - intellectual disability syndrome, SBBYS type MONDO:MONDO:0011365,MedGen:C1863557,OMIM:603736,Orphanet:3047 62 62 1.0000 condition_architecture_interpretable 20 0 29 Blepharophimosis_-_intellectual_disability_syndrome,_SBBYS_type 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture HAX1 mondo_mondo_0012548_medgen_c5235141_omim_610738_orphanet_99749 Kostmann syndrome MONDO:MONDO:0012548,MedGen:C5235141,OMIM:610738,Orphanet:99749 62 62 1.0000 condition_architecture_interpretable 20 0 8 Kostmann_syndrome 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRN condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 62 62 1.0000 condition_record_support_limited 20 62 43 not_provided 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA3 mondo_mondo_0007797_medgen_c1840333_omim_146255_orphanet_2237 Hypoparathyroidism, deafness, renal disease syndrome MONDO:MONDO:0007797,MedGen:C1840333,OMIM:146255,Orphanet:2237 62 62 1.0000 condition_architecture_interpretable 20 0 14 Hypoparathyroidism,_deafness,_renal_disease_syndrome 109 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FMO3 condition_not_provided condition not provided MedGen:C3661900 62 62 1.0000 condition_record_support_limited 20 62 23 not_provided 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKTN mondo_mondo_0009678_medgen_c0410174_omim_253800_orphanet_272_orphanet_588_orphanet_899 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:MONDO:0009678,MedGen:C0410174,OMIM:253800,Orphanet:272,Orphanet:588,Orphanet:899 62 62 1.0000 condition_architecture_interpretable 20 0 56 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNE mondo_mondo_0014586_medgen_c4225369_omim_616324_orphanet_590 Congenital myasthenic syndrome 4B MONDO:MONDO:0014586,MedGen:C4225369,OMIM:616324,Orphanet:590 62 62 1.0000 condition_architecture_interpretable 20 0 57 Congenital_myasthenic_syndrome_4B 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKN2A mondo_mondo_0011713_medgen_c1838547_omim_606719_orphanet_404560 Melanoma-pancreatic cancer syndrome MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719,Orphanet:404560 62 62 1.0000 condition_architecture_interpretable 20 0 47 Melanoma-pancreatic_cancer_syndrome 168 compact_adjacent_exon_block_opportunity local_compact_architecture CACNA1A mondo_mondo_0008457_medgen_c0752124_omim_183086_orphanet_98758 Spinocerebellar ataxia type 6 MONDO:MONDO:0008457,MedGen:C0752124,OMIM:183086,Orphanet:98758 62 62 1.0000 condition_architecture_interpretable 20 0 52 Spinocerebellar_ataxia_type_6 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TSC2 human_phenotype_ontology_hp_0032051_mondo_mondo_0011818_medgen_c1846385_omim_607341_orphanet_268994 Isolated focal cortical dysplasia type II Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994 61 61 1.0000 condition_architecture_interpretable 20 0 58 Isolated_focal_cortical_dysplasia_type_II 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TRIM37 condition_not_provided condition not provided .|MedGen:C3661900 61 61 1.0000 condition_record_support_limited 20 61 24 See_cases|not_provided 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TONSL condition_not_provided condition not provided MedGen:C3661900 61 61 1.0000 condition_record_support_limited 20 61 9 not_provided 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 mondo_mondo_0013302_medgen_c3150796_omim_613550_orphanet_84081 Nephronophthisis 11 MONDO:MONDO:0013302,MedGen:C3150796,OMIM:613550,Orphanet:84081 61 61 1.0000 condition_architecture_interpretable 20 0 58 Nephronophthisis_11 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SBF2 mondo_mondo_0018995_medgen_c4082197_orphanet_64749 Charcot-Marie-Tooth disease type 4 MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749 61 61 1.0000 condition_architecture_interpretable 20 0 8 Charcot-Marie-Tooth_disease_type_4 88 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PRX mondo_mondo_0018995_medgen_c4082197_orphanet_64749 Charcot-Marie-Tooth disease type 4 MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749 61 61 1.0000 condition_architecture_interpretable 20 0 29 Charcot-Marie-Tooth_disease_type_4 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PITX2 mondo_mondo_0008386_medgen_c3714873_omim_180500_orphanet_782 Axenfeld-Rieger syndrome type 1 MONDO:MONDO:0008386,MedGen:C3714873,OMIM:180500,Orphanet:782 61 61 1.0000 condition_architecture_interpretable 20 0 27 Axenfeld-Rieger_syndrome_type_1 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDCD10 mondo_mondo_0011305_medgen_c1864040_omim_603285_orphanet_221061 Cerebral cavernous malformation 3 MONDO:MONDO:0011305,MedGen:C1864040,OMIM:603285,Orphanet:221061 61 61 1.0000 condition_architecture_interpretable 20 0 15 Cerebral_cavernous_malformation_3 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTOGL condition_not_provided condition not provided MedGen:C3661900 61 61 1.0000 condition_record_support_limited 20 61 19 not_provided 99 large_gene_or_donor_burden_stress_case donor_burden_stress NAGLU condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 61 61 1.0000 condition_record_support_limited 20 61 49 not_provided 295 compact_adjacent_exon_block_opportunity local_compact_architecture MYO5B condition_not_provided condition not provided MedGen:C3661900 61 61 1.0000 condition_record_support_limited 20 61 16 not_provided 104 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MUSK human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 61 61 1.0000 condition_architecture_interpretable 20 0 59 Fetal_akinesia_deformation_sequence_1 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPV17 condition_not_provided condition not provided MedGen:C3661900 61 61 1.0000 condition_record_support_limited 20 61 42 not_provided 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCPH1 mondo_mondo_0009617_medgen_c1855081_omim_251200_orphanet_2512 Microcephaly 1, primary, autosomal recessive MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512 61 61 1.0000 condition_architecture_interpretable 20 0 16 Microcephaly_1,_primary,_autosomal_recessive 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRT14 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 61 61 1.0000 condition_record_support_limited 20 61 35 not_provided 76 compact_adjacent_exon_block_opportunity local_compact_architecture HPS4 mondo_mondo_0013556_medgen_c3484357_omim_614073_orphanet_231500_orphanet_79430 Hermansky-Pudlak syndrome 4 MONDO:MONDO:0013556,MedGen:C3484357,OMIM:614073,Orphanet:231500,Orphanet:79430 61 61 1.0000 condition_architecture_interpretable 20 0 14 Hermansky-Pudlak_syndrome_4 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBN1 mondo_mondo_0007055_medgen_c0265287_omim_102370_orphanet_969 Acromicric dysplasia MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370,Orphanet:969 61 61 1.0000 condition_architecture_interpretable 20 0 56 Acromicric_dysplasia 3554 large_gene_or_donor_burden_stress_case donor_burden_stress EBF3 mondo_mondo_0015021_medgen_c4310618_omim_617330_orphanet_658843 Hypotonia, ataxia, and delayed development syndrome MONDO:MONDO:0015021,MedGen:C4310618,OMIM:617330,Orphanet:658843 61 61 1.0000 condition_architecture_interpretable 20 0 22 Hypotonia,_ataxia,_and_delayed_development_syndrome 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC1H1 mondo_mondo_0013644_medgen_c3280220_omim_614228_orphanet_284232 Charcot-Marie-Tooth disease axonal type 2O MONDO:MONDO:0013644,MedGen:C3280220,OMIM:614228,Orphanet:284232 61 61 1.0000 condition_architecture_interpretable 20 0 31 Charcot-Marie-Tooth_disease_axonal_type_2O 176 large_gene_or_donor_burden_stress_case donor_burden_stress CYP27B1 mondo_mondo_0020723_medgen_cn283242_omim_264700 Vitamin D-dependent rickets, type 1A MONDO:MONDO:0020723,MedGen:CN283242,OMIM:264700 61 61 1.0000 condition_architecture_interpretable 20 0 25 Vitamin_D-dependent_rickets,_type_1A 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP1B1 mondo_mondo_0009277_medgen_c1856439_omim_231300_orphanet_98976_orphanet_98977 Glaucoma 3A MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977 61 61 1.0000 condition_architecture_interpretable 20 0 51 Glaucoma_3A 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP1B1 mondo_mondo_0020366_medgen_c0020302 Congenital glaucoma MONDO:MONDO:0020366,MedGen:C0020302 61 61 1.0000 condition_architecture_interpretable 20 0 43 Congenital_glaucoma 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPT2 mondo_mondo_0009704_medgen_c1833508_omim_255110_orphanet_157_orphanet_228302 Carnitine palmitoyl transferase II deficiency, myopathic form MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302 61 61 1.0000 condition_architecture_interpretable 20 0 61 Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL1A2 mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 Osteogenesis imperfecta MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 61 61 1.0000 condition_architecture_interpretable 20 0 40 Osteogenesis_imperfecta 722 large_gene_or_donor_burden_stress_case donor_burden_stress CHEK2 mondo_mondo_0700271_medgen_c5882668_omim_609265_orphanet_524 CHEK2-related cancer predisposition MONDO:MONDO:0700271,MedGen:C5882668,OMIM:609265,Orphanet:524 61 61 1.0000 condition_architecture_interpretable 20 0 56 CHEK2-related_cancer_predisposition 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CFH mondo_mondo_0012540_medgen_c1853147_omim_610698 Age related macular degeneration 4 MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698 61 61 1.0000 condition_architecture_interpretable 20 0 48 Age_related_macular_degeneration_4 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP8B1 mondo_mondo_0009469_medgen_c4551899_omim_243300_orphanet_65682_orphanet_99960 Benign recurrent intrahepatic cholestasis type 1 MONDO:MONDO:0009469,MedGen:C4551899,OMIM:243300,Orphanet:65682,Orphanet:99960 61 61 1.0000 condition_architecture_interpretable 20 0 33 Benign_recurrent_intrahepatic_cholestasis_type_1 131 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARID1B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 61 61 1.0000 condition_architecture_interpretable 20 0 24 Inborn_genetic_diseases 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ADGRV1 mondo_mondo_0011443_medgen_c1858493_omim_604352 Febrile seizures, familial, 4 MONDO:MONDO:0011443,MedGen:C1858493,OMIM:604352 61 61 1.0000 condition_architecture_interpretable 20 0 56 Febrile_seizures,_familial,_4 650 large_gene_or_donor_burden_stress_case donor_burden_stress XIAP mondo_mondo_0010385_medgen_c1845076_omim_300635_orphanet_2442_orphanet_538934 X-linked lymphoproliferative disease due to XIAP deficiency MONDO:MONDO:0010385,MedGen:C1845076,OMIM:300635,Orphanet:2442,Orphanet:538934 60 60 1.0000 condition_architecture_interpretable 20 0 9 X-linked_lymphoproliferative_disease_due_to_XIAP_deficiency 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WFS1 mondo_mondo_0010963_medgen_c1833021_omim_600965_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 6 MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635 60 60 1.0000 condition_architecture_interpretable 20 0 55 Autosomal_dominant_nonsyndromic_hearing_loss_6 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USP9X condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 60 60 1.0000 condition_record_support_limited 20 60 5 See_cases|not_provided 128 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRAPPC11 mondo_mondo_0014144_medgen_c4517996_omim_615356_orphanet_369840 Autosomal recessive limb-girdle muscular dystrophy type R18 MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356,Orphanet:369840 60 60 1.0000 condition_architecture_interpretable 20 0 15 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_R18 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM127 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 60 60 1.0000 condition_architecture_interpretable 20 0 36 Hereditary_cancer-predisposing_syndrome 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA2 mondo_mondo_0011053_medgen_c1303073_omim_601358_orphanet_3051 Nicolaides-Baraitser syndrome MONDO:MONDO:0011053,MedGen:C1303073,OMIM:601358,Orphanet:3051 60 60 1.0000 condition_architecture_interpretable 20 0 26 Nicolaides-Baraitser_syndrome 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC17A5 mondo_mondo_0010027_medgen_c1096902_omim_269920_orphanet_309324_orphanet_834 Sialic acid storage disease, severe infantile type MONDO:MONDO:0010027,MedGen:C1096902,OMIM:269920,Orphanet:309324,Orphanet:834 60 60 1.0000 condition_architecture_interpretable 20 0 57 Sialic_acid_storage_disease,_severe_infantile_type 154 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD1B mondo_mondo_0033559_medgen_c5436574_omim_619000 Intellectual developmental disorder with seizures and language delay MONDO:MONDO:0033559,MedGen:C5436574,OMIM:619000 60 60 1.0000 condition_architecture_interpretable 20 0 9 Intellectual_developmental_disorder_with_seizures_and_language_delay 95 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RAI1 mondo_mondo_0008434_medgen_c0795864_omim_182290_orphanet_819 Smith-Magenis syndrome MONDO:MONDO:0008434,MedGen:C0795864,OMIM:182290,Orphanet:819 60 60 1.0000 condition_architecture_interpretable 20 0 9 Smith-Magenis_syndrome 161 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PRPF8 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 60 60 1.0000 condition_record_support_limited 20 60 17 not_provided 77 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PEX26 mondo_mondo_0013938_medgen_c3888385_omim_614872_orphanet_912 Peroxisome biogenesis disorder 7A (Zellweger) MONDO:MONDO:0013938,MedGen:C3888385,OMIM:614872,Orphanet:912 60 60 1.0000 condition_architecture_interpretable 20 0 44 Peroxisome_biogenesis_disorder_7A_(Zellweger) 63 compact_adjacent_exon_block_opportunity local_compact_architecture FECH condition_not_provided condition not provided MedGen:C3661900 60 60 1.0000 condition_record_support_limited 20 60 17 not_provided 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL5 mondo_mondo_0030797_medgen_c5676970_omim_619845 Retinitis pigmentosa 93 MONDO:MONDO:0030797,MedGen:C5676970,OMIM:619845 60 60 1.0000 condition_architecture_interpretable 20 0 59 Retinitis_pigmentosa_93 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2AK3 mondo_mondo_0009192_medgen_c0432217_omim_226980_orphanet_1667 Wolcott-Rallison dysplasia MONDO:MONDO:0009192,MedGen:C0432217,OMIM:226980,Orphanet:1667 60 60 1.0000 condition_architecture_interpretable 20 0 13 Wolcott-Rallison_dysplasia 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ8A mondo_mondo_0012784_medgen_c2677589_omim_612016_orphanet_139485 Autosomal recessive ataxia due to ubiquinone deficiency MONDO:MONDO:0012784,MedGen:C2677589,OMIM:612016,Orphanet:139485 60 60 1.0000 condition_architecture_interpretable 20 0 32 Autosomal_recessive_ataxia_due_to_ubiquinone_deficiency 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL2A1 col2a1_related_disorder COL2A1-related disorder . 60 60 1.0000 condition_architecture_interpretable 20 0 38 COL2A1-related_disorder 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 mondo_mondo_0008702_medgen_c0220685_omim_200610_orphanet_932_orphanet_93296 Achondrogenesis type II MONDO:MONDO:0008702,MedGen:C0220685,OMIM:200610,Orphanet:932,Orphanet:93296 60 60 1.0000 condition_architecture_interpretable 20 0 40 Achondrogenesis_type_II 1101 large_gene_or_donor_burden_stress_case donor_burden_stress CLN8 mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 Neuronal ceroid lipofuscinosis MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 60 60 1.0000 condition_architecture_interpretable 20 0 22 Neuronal_ceroid_lipofuscinosis 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNA2D2 mondo_mondo_0800491_medgen_c0393706_orphanet_1934 Early-infantile DEE MONDO:MONDO:0800491,MedGen:C0393706,Orphanet:1934 60 60 1.0000 condition_architecture_interpretable 20 0 3 Early-infantile_DEE 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA1 human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Ovarian neoplasm Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 60 60 1.0000 condition_architecture_interpretable 20 0 52 Ovarian_neoplasm 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRAF mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 60 60 1.0000 condition_architecture_interpretable 20 0 58 RASopathy 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2A2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 60 60 1.0000 condition_record_support_limited 20 60 9 not_provided 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARID2 mondo_mondo_0033492_medgen_c4540499_omim_617808 Coffin-Siris syndrome 6 MONDO:MONDO:0033492,MedGen:C4540499,OMIM:617808 60 60 1.0000 condition_architecture_interpretable 20 0 6 Coffin-Siris_syndrome_6 101 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AGRN mondo_mondo_0014052_medgen_c3808739_omim_615120_orphanet_590 Congenital myasthenic syndrome 8 MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590 60 60 1.0000 condition_architecture_interpretable 20 0 9 Congenital_myasthenic_syndrome_8 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture VPS13C condition_not_provided condition not provided MedGen:C3661900 59 59 1.0000 condition_record_support_limited 20 59 6 not_provided 88 large_gene_or_donor_burden_stress_case donor_burden_stress USH2A mondo_mondo_0016484_medgen_c0339534_orphanet_231178 Usher syndrome type 2 MONDO:MONDO:0016484,MedGen:C0339534,Orphanet:231178 59 59 1.0000 condition_architecture_interpretable 20 0 44 Usher_syndrome_type_2 2100 large_gene_or_donor_burden_stress_case donor_burden_stress TTC7A mondo_mondo_0009465_medgen_c0220744_orphanet_2300 Multiple gastrointestinal atresias MONDO:MONDO:0009465,MedGen:C0220744,Orphanet:2300 59 59 1.0000 condition_architecture_interpretable 20 0 22 Multiple_gastrointestinal_atresias 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNXB mondo_mondo_0014422_medgen_c4014831_omim_615963_orphanet_289365 Vesicoureteral reflux 8 MONDO:MONDO:0014422,MedGen:C4014831,OMIM:615963,Orphanet:289365 59 59 1.0000 condition_architecture_interpretable 20 0 53 Vesicoureteral_reflux_8 142 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TMEM67 mondo_mondo_0800103_medgen_c5435651_omim_216360_orphanet_1454 COACH syndrome 1 MONDO:MONDO:0800103,MedGen:C5435651,OMIM:216360,Orphanet:1454 59 59 1.0000 condition_architecture_interpretable 20 0 56 COACH_syndrome_1 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TG mondo_mondo_0011982_medgen_c1842444_omim_608175 Autoimmune thyroid disease, susceptibility to, 3 MONDO:MONDO:0011982,MedGen:C1842444,OMIM:608175 59 59 1.0000 condition_architecture_interpretable 20 0 59 Autoimmune_thyroid_disease,_susceptibility_to,_3 241 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCTN3 mondo_mondo_0009794_medgen_c0406727_omim_258860_orphanet_2753 Orofacial-digital syndrome IV MONDO:MONDO:0009794,MedGen:C0406727,OMIM:258860,Orphanet:2753 59 59 1.0000 condition_architecture_interpretable 20 0 55 Orofacial-digital_syndrome_IV 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA2 condition_not_provided condition not provided MedGen:C3661900 59 59 1.0000 condition_record_support_limited 20 59 27 not_provided 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A5 mondo_mondo_0013827_medgen_c3553288_omim_614618_orphanet_3197 Hyperekplexia 3 MONDO:MONDO:0013827,MedGen:C3553288,OMIM:614618,Orphanet:3197 59 59 1.0000 condition_architecture_interpretable 20 0 7 Hyperekplexia_3 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC22A5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 59 59 1.0000 condition_record_support_limited 20 59 57 not_provided|not_specified 285 compact_adjacent_exon_block_opportunity local_compact_architecture SEPSECS mondo_mondo_0013438_medgen_c3151140_omim_613811_orphanet_247198_orphanet_2524 Pontocerebellar hypoplasia type 2D MONDO:MONDO:0013438,MedGen:C3151140,OMIM:613811,Orphanet:247198,Orphanet:2524 59 59 1.0000 condition_architecture_interpretable 20 0 26 Pontocerebellar_hypoplasia_type_2D 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SALL1 mondo_mondo_0054581_medgen_c4551481_omim_107480_orphanet_857 Townes-Brocks syndrome 1 MONDO:MONDO:0054581,MedGen:C4551481,OMIM:107480,Orphanet:857 59 59 1.0000 condition_architecture_interpretable 20 0 8 Townes-Brocks_syndrome_1 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RANBP2 mondo_mondo_0007509_medgen_c3888065_omim_129490_orphanet_1810_orphanet_238468 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant MONDO:MONDO:0007509,MedGen:C3888065,OMIM:129490,Orphanet:1810,Orphanet:238468 59 59 1.0000 condition_architecture_interpretable 20 0 52 Ectodermal_dysplasia_10A,_hypohidrotic/hair/nail_type,_autosomal_dominant 96 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PTPN11 mondo_mondo_0100082_medgen_c4551484_omim_151100_orphanet_500 LEOPARD syndrome 1 MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100,Orphanet:500 59 59 1.0000 condition_architecture_interpretable 20 0 58 LEOPARD_syndrome_1 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPF31 mondo_mondo_0010828_medgen_c1838601_omim_600138_orphanet_791 Retinitis pigmentosa 11 MONDO:MONDO:0010828,MedGen:C1838601,OMIM:600138,Orphanet:791 59 59 1.0000 condition_architecture_interpretable 20 0 27 Retinitis_pigmentosa_11 261 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP3 mondo_mondo_0011456_medgen_c1858392_omim_604387_orphanet_655 Nephronophthisis 3 MONDO:MONDO:0011456,MedGen:C1858392,OMIM:604387,Orphanet:655 59 59 1.0000 condition_architecture_interpretable 20 0 52 Nephronophthisis_3 161 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NKX2-1 mondo_mondo_0012593_medgen_c1970269_omim_610978_orphanet_209905 Brain-lung-thyroid syndrome MONDO:MONDO:0012593,MedGen:C1970269,OMIM:610978,Orphanet:209905 59 59 1.0000 condition_architecture_interpretable 20 0 21 Brain-lung-thyroid_syndrome 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFAF5 mondo_mondo_0032621_medgen_c4748785_omim_618238 Mitochondrial complex I deficiency, nuclear type 16 MONDO:MONDO:0032621,MedGen:C4748785,OMIM:618238 59 59 1.0000 condition_architecture_interpretable 20 0 34 Mitochondrial_complex_I_deficiency,_nuclear_type_16 117 compact_adjacent_exon_block_opportunity local_compact_architecture NBEAL2 mondo_mondo_0007686_medgen_c0272302_omim_139090_orphanet_721 Gray platelet syndrome MONDO:MONDO:0007686,MedGen:C0272302,OMIM:139090,Orphanet:721 59 59 1.0000 condition_architecture_interpretable 20 0 4 Gray_platelet_syndrome 72 large_gene_or_donor_burden_stress_case donor_burden_stress MYLK mondo_mondo_0013418_medgen_c3151077_omim_613780 Aortic aneurysm, familial thoracic 7 MONDO:MONDO:0013418,MedGen:C3151077,OMIM:613780 59 59 1.0000 condition_architecture_interpretable 20 0 3 Aortic_aneurysm,_familial_thoracic_7 73 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MSH2 mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 59 59 1.0000 condition_architecture_interpretable 20 0 42 Carcinoma_of_colon 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MKS1 mondo_mondo_0014928_medgen_c4310705_omim_617121 Joubert syndrome 28 MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121 59 59 1.0000 condition_architecture_interpretable 20 0 58 Joubert_syndrome_28 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFRP mondo_mondo_0012605_medgen_c1970236_omim_611040_orphanet_251279 Isolated microphthalmia 5 MONDO:MONDO:0012605,MedGen:C1970236,OMIM:611040,Orphanet:251279 59 59 1.0000 condition_architecture_interpretable 20 0 21 Isolated_microphthalmia_5 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LTBP2 condition_not_provided condition not provided MedGen:C3661900 59 59 1.0000 condition_record_support_limited 20 59 6 not_provided 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA2B mondo_mondo_0031332_medgen_cn300358_omim_273800 Glanzmann thrombasthenia 1 MONDO:MONDO:0031332,MedGen:CN300358,OMIM:273800 59 59 1.0000 condition_architecture_interpretable 20 0 52 Glanzmann_thrombasthenia_1 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS mondo_mondo_0007078_medgen_c3494506_omim_103580_orphanet_79443 Pseudohypoparathyroidism type I A MONDO:MONDO:0007078,MedGen:C3494506,OMIM:103580,Orphanet:79443 59 59 1.0000 condition_architecture_interpretable 20 0 30 Pseudohypoparathyroidism_type_I_A 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL5 mondo_mondo_0030859_medgen_c5436837_omim_619111 COACH syndrome 2 MONDO:MONDO:0030859,MedGen:C5436837,OMIM:619111 59 59 1.0000 condition_architecture_interpretable 20 0 59 COACH_syndrome_2 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCM condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 59 59 1.0000 condition_record_support_limited 20 59 44 See_cases|not_provided|not_specified 201 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EDAR mondo_mondo_0007509_medgen_c3888065_omim_129490_orphanet_1810_orphanet_238468 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant MONDO:MONDO:0007509,MedGen:C3888065,OMIM:129490,Orphanet:1810,Orphanet:238468 59 59 1.0000 condition_architecture_interpretable 20 0 52 Ectodermal_dysplasia_10A,_hypohidrotic/hair/nail_type,_autosomal_dominant 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP7B1 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 59 59 1.0000 condition_architecture_interpretable 20 0 26 Spastic_paraplegia 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP21A2 condition_not_provided condition not provided MedGen:C3661900 59 59 1.0000 condition_record_support_limited 20 59 34 not_provided 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP11B2 corticosterone_methyl_oxidase_type_ii_deficiency Corticosterone methyl oxidase type II deficiency . 59 59 1.0000 condition_architecture_interpretable 20 0 38 Corticosterone_methyl_oxidase_type_II_deficiency 131 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH1 mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 59 59 1.0000 condition_architecture_interpretable 20 0 51 Familial_cancer_of_breast 622 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CCNH condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 59 59 1.0000 condition_record_support_limited 20 59 28 See_cases|not_provided|not_specified 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASQ2 mondo_mondo_0011484_medgen_c1631597_omim_604772_orphanet_3286 Catecholaminergic polymorphic ventricular tachycardia 1 MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286 59 59 1.0000 condition_architecture_interpretable 20 0 30 Catecholaminergic_polymorphic_ventricular_tachycardia_1 79 compact_adjacent_exon_block_opportunity local_compact_architecture CACNA1A mondo_mondo_0020756_medgen_c1832884_omim_141500_orphanet_569 Migraine, familial hemiplegic, 1 MONDO:MONDO:0020756,MedGen:C1832884,OMIM:141500,Orphanet:569 59 59 1.0000 condition_architecture_interpretable 20 0 52 Migraine,_familial_hemiplegic,_1 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture C1QTNF5 mondo_mondo_0012605_medgen_c1970236_omim_611040_orphanet_251279 Isolated microphthalmia 5 MONDO:MONDO:0012605,MedGen:C1970236,OMIM:611040,Orphanet:251279 59 59 1.0000 condition_architecture_interpretable 20 0 21 Isolated_microphthalmia_5 70 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture ANO10 condition_not_provided condition not provided MedGen:C3661900 59 59 1.0000 condition_record_support_limited 20 59 20 not_provided 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH7A1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 59 59 1.0000 condition_record_support_limited 20 59 47 See_cases|not_provided|not_specified 184 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC2 mondo_mondo_0009380_medgen_c0022350_omim_237500_orphanet_234 Dubin-Johnson syndrome MONDO:MONDO:0009380,MedGen:C0022350,OMIM:237500,Orphanet:234 59 59 1.0000 condition_architecture_interpretable 20 0 39 Dubin-Johnson_syndrome 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB4 mondo_mondo_0011214_medgen_c1865643_omim_602347_orphanet_79305 Progressive familial intrahepatic cholestasis type 3 MONDO:MONDO:0011214,MedGen:C1865643,OMIM:602347,Orphanet:79305 59 59 1.0000 condition_architecture_interpretable 20 0 37 Progressive_familial_intrahepatic_cholestasis_type_3 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTPA condition_not_provided condition not provided MedGen:C3661900 58 58 1.0000 condition_record_support_limited 20 58 28 not_provided 91 compact_adjacent_exon_block_opportunity local_compact_architecture TRIOBP condition_not_provided condition not provided .|MedGen:C3661900 58 58 1.0000 condition_record_support_limited 20 58 19 See_cases|not_provided 100 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TGFB3 mondo_mondo_0014262_medgen_c3810012_omim_615582 Rienhoff syndrome MONDO:MONDO:0014262,MedGen:C3810012,OMIM:615582 58 58 1.0000 condition_architecture_interpretable 20 0 20 Rienhoff_syndrome 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCTN3 mondo_mondo_0013896_medgen_c3553758_omim_614815_orphanet_2754 Joubert syndrome 18 MONDO:MONDO:0013896,MedGen:C3553758,OMIM:614815,Orphanet:2754 58 58 1.0000 condition_architecture_interpretable 20 0 55 Joubert_syndrome_18 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX9 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 58 58 1.0000 condition_record_support_limited 20 58 16 not_provided|not_specified 134 compact_adjacent_exon_block_opportunity local_compact_architecture SOX10 condition_not_provided condition not provided MedGen:C3661900 58 58 1.0000 condition_record_support_limited 20 58 22 not_provided 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture QDPR mondo_mondo_0009862_medgen_c0268465_omim_261630_orphanet_226_orphanet_238583 Dihydropteridine reductase deficiency MONDO:MONDO:0009862,MedGen:C0268465,OMIM:261630,Orphanet:226,Orphanet:238583 58 58 1.0000 condition_architecture_interpretable 20 0 7 Dihydropteridine_reductase_deficiency 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR2F condition_not_provided condition not provided MedGen:C3661900 58 58 1.0000 condition_record_support_limited 20 58 22 not_provided 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLA2G6 condition_not_provided condition not provided .|MedGen:C3661900 58 58 1.0000 condition_record_support_limited 20 58 44 See_cases|not_provided 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTOA condition_not_provided condition not provided MedGen:C3661900 58 58 1.0000 condition_record_support_limited 20 58 12 not_provided 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPC2 mondo_mondo_0011873_medgen_c1843366_omim_607625_orphanet_646 Niemann-Pick disease, type C2 MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625,Orphanet:646 58 58 1.0000 condition_architecture_interpretable 20 0 9 Niemann-Pick_disease,_type_C2 59 compact_adjacent_exon_block_opportunity local_compact_architecture NBN human_phenotype_ontology_hp_0004803_human_phenotype_ontology_hp_0005555_human_phenotype_ontology_hp_0006721_mondo_mondo_0004967_medgen_c0023449_omim_613065_orphanet_513 Acute lymphoid leukemia Human_Phenotype_Ontology:HP:0004803,Human_Phenotype_Ontology:HP:0005555,Human_Phenotype_Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513 58 58 1.0000 condition_architecture_interpretable 20 0 58 Acute_lymphoid_leukemia 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control LAMB3 mondo_mondo_0007094_medgen_c4011403_omim_104530_orphanet_88661 Amelogenesis imperfecta type 1A MONDO:MONDO:0007094,MedGen:C4011403,OMIM:104530,Orphanet:88661 58 58 1.0000 condition_architecture_interpretable 20 0 51 Amelogenesis_imperfecta_type_1A 305 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KMT2C kmt2c_related_ndd KMT2C-related NDD . 58 58 1.0000 condition_architecture_interpretable 20 0 18 KMT2C-related_NDD 174 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 58 58 1.0000 condition_architecture_interpretable 20 0 21 Inborn_genetic_diseases 520 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KCNT1 mondo_mondo_0013989_medgen_c3554195_omim_614959_orphanet_293181 Developmental and epileptic encephalopathy, 14 MONDO:MONDO:0013989,MedGen:C3554195,OMIM:614959,Orphanet:293181 58 58 1.0000 condition_architecture_interpretable 20 0 46 Developmental_and_epileptic_encephalopathy,_14 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 mondo_mondo_0024540_medgen_c4551509_omim_220400_orphanet_768_orphanet_90647 Jervell and Lange-Nielsen syndrome 1 MONDO:MONDO:0024540,MedGen:C4551509,OMIM:220400,Orphanet:768,Orphanet:90647 58 58 1.0000 condition_architecture_interpretable 20 0 50 Jervell_and_Lange-Nielsen_syndrome_1 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA7 mondo_mondo_0013177_medgen_c2750786_omim_613204_orphanet_34520 Congenital muscular dystrophy due to integrin alpha-7 deficiency MONDO:MONDO:0013177,MedGen:C2750786,OMIM:613204,Orphanet:34520 58 58 1.0000 condition_architecture_interpretable 20 0 4 Congenital_muscular_dystrophy_due_to_integrin_alpha-7_deficiency 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPG1 condition_not_provided condition not provided MedGen:C3661900 58 58 1.0000 condition_record_support_limited 20 58 5 not_provided 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNRNPK mondo_mondo_0014700_medgen_c4225274_omim_616580_orphanet_2729_orphanet_453499_orphanet_453504 Au-Kline syndrome MONDO:MONDO:0014700,MedGen:C4225274,OMIM:616580,Orphanet:2729,Orphanet:453499,Orphanet:453504 58 58 1.0000 condition_architecture_interpretable 20 0 8 Au-Kline_syndrome 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF4A mondo_mondo_0007452_medgen_c1852093_omim_125850_orphanet_552 Maturity-onset diabetes of the young type 1 MONDO:MONDO:0007452,MedGen:C1852093,OMIM:125850,Orphanet:552 58 58 1.0000 condition_architecture_interpretable 20 0 42 Maturity-onset_diabetes_of_the_young_type_1 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 58 58 1.0000 condition_architecture_interpretable 20 0 56 Rare_genetic_deafness 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCDH condition_not_provided condition not provided MedGen:C3661900 58 58 1.0000 condition_record_support_limited 20 58 56 not_provided 324 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBN1 mondo_mondo_0008492_medgen_c1861456_omim_184900_orphanet_2833 Stiff skin syndrome MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900,Orphanet:2833 58 58 1.0000 condition_architecture_interpretable 20 0 54 Stiff_skin_syndrome 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FANCL mondo_mondo_0013566_medgen_c3469528_omim_614083_orphanet_84 Fanconi anemia complementation group L MONDO:MONDO:0013566,MedGen:C3469528,OMIM:614083,Orphanet:84 58 58 1.0000 condition_architecture_interpretable 20 0 34 Fanconi_anemia_complementation_group_L 120 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2AK3 condition_not_provided condition not provided MedGen:C3661900 58 58 1.0000 condition_record_support_limited 20 58 14 not_provided 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DGAT1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 58 58 1.0000 condition_record_support_limited 20 58 11 See_cases|not_provided 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCX condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 58 58 1.0000 condition_record_support_limited 20 58 26 not_provided 165 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL2A1 mondo_mondo_0008471_medgen_c2745959_omim_183900_orphanet_94068 Spondyloepiphyseal dysplasia congenita MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900,Orphanet:94068 58 58 1.0000 condition_architecture_interpretable 20 0 40 Spondyloepiphyseal_dysplasia_congenita 1101 large_gene_or_donor_burden_stress_case donor_burden_stress CNGA1 condition_not_provided condition not provided .|MedGen:C3661900 58 58 1.0000 condition_record_support_limited 20 58 28 See_cases|not_provided 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLTC mondo_mondo_0030922_medgen_c4693389_omim_617854 Intellectual disability, autosomal dominant 56 MONDO:MONDO:0030922,MedGen:C4693389,OMIM:617854 58 58 1.0000 condition_architecture_interpretable 20 0 9 Intellectual_disability,_autosomal_dominant_56 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS2 mondo_mondo_0014692_medgen_c4225281_omim_616562_orphanet_791 Retinitis pigmentosa 74 MONDO:MONDO:0014692,MedGen:C4225281,OMIM:616562,Orphanet:791 58 58 1.0000 condition_architecture_interpretable 20 0 58 Retinitis_pigmentosa_74 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V0A4 mondo_mondo_0011268_medgen_c5399980_omim_602722 Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss MONDO:MONDO:0011268,MedGen:C5399980,OMIM:602722 58 58 1.0000 condition_architecture_interpretable 20 0 22 Renal_tubular_acidosis,_distal,_3,_with_or_without_sensorineural_hearing_loss 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATM atm_related_disorder ATM-related disorder . 58 58 1.0000 condition_architecture_interpretable 20 0 54 ATM-related_disorder 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control AGL condition_not_provided condition not provided MedGen:C3661900 58 58 1.0000 condition_record_support_limited 20 58 48 not_provided 624 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WFS1 mondo_mondo_0013673_medgen_c3280358_omim_614296_orphanet_411590 Wolfram-like syndrome MONDO:MONDO:0013673,MedGen:C3280358,OMIM:614296,Orphanet:411590 57 57 1.0000 condition_architecture_interpretable 20 0 56 Wolfram-like_syndrome 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR19 mondo_mondo_0013718_medgen_c3280612_omim_614377_orphanet_655 Nephronophthisis 13 MONDO:MONDO:0013718,MedGen:C3280612,OMIM:614377,Orphanet:655 57 57 1.0000 condition_architecture_interpretable 20 0 48 Nephronophthisis_13 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WAC condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 57 57 1.0000 condition_record_support_limited 20 57 15 See_cases|not_provided 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSPEAR condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 57 57 1.0000 condition_record_support_limited 20 57 17 not_provided|not_specified 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSFM condition_not_provided condition not provided MedGen:C3661900 57 57 1.0000 condition_record_support_limited 20 57 25 not_provided 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TK2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 57 57 1.0000 condition_record_support_limited 20 57 32 not_provided 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF20 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 57 57 1.0000 condition_record_support_limited 20 57 21 See_cases|not_provided 139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture STX1B mondo_mondo_0014517_medgen_c4015395_omim_616172_orphanet_36387 Generalized epilepsy with febrile seizures plus, type 9 MONDO:MONDO:0014517,MedGen:C4015395,OMIM:616172,Orphanet:36387 57 57 1.0000 condition_architecture_interpretable 20 0 4 Generalized_epilepsy_with_febrile_seizures_plus,_type_9 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPAG1 mondo_mondo_0014216_medgen_c3809706_omim_615505_orphanet_244 Primary ciliary dyskinesia 28 MONDO:MONDO:0014216,MedGen:C3809706,OMIM:615505,Orphanet:244 57 57 1.0000 condition_architecture_interpretable 20 0 9 Primary_ciliary_dyskinesia_28 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX5 mondo_mondo_0014778_medgen_c4225202_omim_616803_orphanet_313884_orphanet_313892_orphanet_530983 Lamb-Shaffer syndrome MONDO:MONDO:0014778,MedGen:C4225202,OMIM:616803,Orphanet:313884,Orphanet:313892,Orphanet:530983 57 57 1.0000 condition_architecture_interpretable 20 0 18 Lamb-Shaffer_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC34A3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 57 57 1.0000 condition_record_support_limited 20 57 26 not_provided 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A13 mondo_mondo_0011601_medgen_c1853942_omim_605814_orphanet_247598 Neonatal intrahepatic cholestasis due to citrin deficiency MONDO:MONDO:0011601,MedGen:C1853942,OMIM:605814,Orphanet:247598 57 57 1.0000 condition_architecture_interpretable 20 0 49 Neonatal_intrahepatic_cholestasis_due_to_citrin_deficiency 213 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAG1 mondo_mondo_0011338_medgen_c2700553_omim_603554_orphanet_39041 Histiocytic medullary reticulosis MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554,Orphanet:39041 57 57 1.0000 condition_architecture_interpretable 20 0 53 Histiocytic_medullary_reticulosis 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD51C condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 57 57 1.0000 condition_record_support_limited 20 57 55 not_provided|not_specified 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PNKP condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 57 57 1.0000 condition_record_support_limited 20 57 28 not_provided|not_specified 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6C condition_not_provided condition not provided MedGen:C3661900 57 57 1.0000 condition_record_support_limited 20 57 19 not_provided 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NMNAT1 mondo_mondo_0012056_medgen_c1837873_omim_608553_orphanet_65 Leber congenital amaurosis 9 MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65 57 57 1.0000 condition_architecture_interpretable 20 0 14 Leber_congenital_amaurosis_9 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NKX2-1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 57 57 1.0000 condition_record_support_limited 20 57 18 See_cases|not_provided 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNH2 efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 Cardiac arrhythmia EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 57 57 1.0000 condition_architecture_interpretable 20 0 41 Cardiac_arrhythmia 720 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBN1 mondo_mondo_0007514_medgen_c3541518_omim_129600_orphanet_1885 Ectopia lentis 1, isolated, autosomal dominant MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Orphanet:1885 57 57 1.0000 condition_architecture_interpretable 20 0 56 Ectopia_lentis_1,_isolated,_autosomal_dominant 3554 large_gene_or_donor_burden_stress_case donor_burden_stress DMD mondo_mondo_0010542_medgen_c3668940_omim_302045_orphanet_154 Dilated cardiomyopathy 3B MONDO:MONDO:0010542,MedGen:C3668940,OMIM:302045,Orphanet:154 57 57 1.0000 condition_architecture_interpretable 20 0 54 Dilated_cardiomyopathy_3B 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DDX41 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 57 57 1.0000 condition_architecture_interpretable 20 0 36 Inborn_genetic_diseases 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CR2 mondo_mondo_0013862_medgen_c3542922_omim_614699_orphanet_1572_orphanet_696894 Immunodeficiency, common variable, 7 MONDO:MONDO:0013862,MedGen:C3542922,OMIM:614699,Orphanet:1572,Orphanet:696894 57 57 1.0000 condition_architecture_interpretable 20 0 4 Immunodeficiency,_common_variable,_7 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCNKB mondo_mondo_0011822_medgen_c1846343_omim_607364_orphanet_112_orphanet_93605 Bartter disease type 3 MONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364,Orphanet:112,Orphanet:93605 57 57 1.0000 condition_architecture_interpretable 20 0 44 Bartter_disease_type_3 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C7 condition_not_provided condition not provided MedGen:C3661900 57 57 1.0000 condition_record_support_limited 20 57 10 not_provided 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA1 inherited_breast_cancer_and_ovarian_cancer Inherited breast cancer and ovarian cancer . 57 57 1.0000 condition_architecture_interpretable 20 0 52 Inherited_breast_cancer_and_ovarian_cancer 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ASAH1 mondo_mondo_0009218_medgen_c0268255_omim_228000_orphanet_333 Farber lipogranulomatosis MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000,Orphanet:333 57 57 1.0000 condition_architecture_interpretable 20 0 23 Farber_lipogranulomatosis 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP5Z1 mondo_mondo_0013342_medgen_c3150901_omim_613647_orphanet_306511 Hereditary spastic paraplegia 48 MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511 57 57 1.0000 condition_architecture_interpretable 20 0 16 Hereditary_spastic_paraplegia_48 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTS17 condition_not_provided condition not provided MedGen:C3661900 57 57 1.0000 condition_record_support_limited 20 57 4 not_provided 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AARS1 mondo_mondo_0018993_medgen_c0270914_orphanet_64746 Charcot-Marie-Tooth disease type 2 MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746 57 57 1.0000 condition_architecture_interpretable 20 0 13 Charcot-Marie-Tooth_disease_type_2 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR35 mondo_mondo_0013323_medgen_c3150874_omim_613610_orphanet_1515 Cranioectodermal dysplasia 2 MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515 56 56 1.0000 condition_architecture_interpretable 20 0 50 Cranioectodermal_dysplasia_2 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPATA7 mondo_mondo_0011415_medgen_c1858677_omim_604232 Leber congenital amaurosis 3 MONDO:MONDO:0011415,MedGen:C1858677,OMIM:604232 56 56 1.0000 condition_architecture_interpretable 20 0 17 Leber_congenital_amaurosis_3 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS6KA3 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 56 56 1.0000 condition_record_support_limited 20 56 15 See_cases|not_provided 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB9B mondo_mondo_0010733_medgen_c0751604_omim_312920_orphanet_99015 Hereditary spastic paraplegia 2 MONDO:MONDO:0010733,MedGen:C0751604,OMIM:312920,Orphanet:99015 56 56 1.0000 condition_architecture_interpretable 20 0 27 Hereditary_spastic_paraplegia_2 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRSS23 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 56 56 1.0000 condition_record_support_limited 20 56 6 not_provided 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMM2 condition_not_provided condition not provided .|MedGen:C3661900 56 56 1.0000 condition_record_support_limited 20 56 53 See_cases|not_provided 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLP1 mondo_mondo_0010733_medgen_c0751604_omim_312920_orphanet_99015 Hereditary spastic paraplegia 2 MONDO:MONDO:0010733,MedGen:C0751604,OMIM:312920,Orphanet:99015 56 56 1.0000 condition_architecture_interpretable 20 0 27 Hereditary_spastic_paraplegia_2 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLA2G6 mondo_mondo_0012444_medgen_c1857747_omim_610217_orphanet_35069 Neurodegeneration with brain iron accumulation 2B MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217,Orphanet:35069 56 56 1.0000 condition_architecture_interpretable 20 0 47 Neurodegeneration_with_brain_iron_accumulation_2B 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIEZO2 mondo_mondo_0014941_medgen_c4310692_omim_617146 Arthrogryposis, distal, with impaired proprioception and touch MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146 56 56 1.0000 condition_architecture_interpretable 20 0 13 Arthrogryposis,_distal,_with_impaired_proprioception_and_touch 134 large_gene_or_donor_burden_stress_case donor_burden_stress NF2 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 56 56 1.0000 condition_architecture_interpretable 20 0 27 Hereditary_cancer-predisposing_syndrome 285 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MLH1 mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 56 56 1.0000 condition_architecture_interpretable 20 0 44 Carcinoma_of_colon 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MECP2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 56 56 1.0000 condition_architecture_interpretable 20 0 40 Inborn_genetic_diseases 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LIFR mondo_mondo_0031280_medgen_c0796176_omim_ps601559_orphanet_3206 Stuve-Wiedemann syndrome MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206 56 56 1.0000 condition_architecture_interpretable 20 0 25 Stuve-Wiedemann_syndrome 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LDLRAP1 mondo_mondo_0011374_medgen_c1863512_omim_603813_orphanet_391665 Hypercholesterolemia, familial, 4 MONDO:MONDO:0011374,MedGen:C1863512,OMIM:603813,Orphanet:391665 56 56 1.0000 condition_architecture_interpretable 20 0 21 Hypercholesterolemia,_familial,_4 68 compact_adjacent_exon_block_opportunity local_compact_architecture KIF1A condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 56 56 1.0000 condition_record_support_limited 20 56 31 See_cases|not_provided 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture HPRT1 mondo_mondo_0010299_medgen_c0268117_omim_300323_orphanet_79233 Partial hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233 56 56 1.0000 condition_architecture_interpretable 20 0 54 Partial_hypoxanthine-guanine_phosphoribosyltransferase_deficiency 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GFAP mondo_mondo_0008752_medgen_c0270726_omim_203450_orphanet_58 Alexander disease MONDO:MONDO:0008752,MedGen:C0270726,OMIM:203450,Orphanet:58 56 56 1.0000 condition_architecture_interpretable 20 0 35 Alexander_disease 74 compact_adjacent_exon_block_opportunity local_compact_architecture GATAD1 mondo_mondo_0008953_medgen_c4721541_omim_214100 Peroxisome biogenesis disorder 1A (Zellweger) MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100 56 56 1.0000 condition_architecture_interpretable 20 0 50 Peroxisome_biogenesis_disorder_1A_(Zellweger) 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLCN mondo_mondo_0800445_medgen_cn375946_omim_135150_orphanet_122 Birt-Hogg-Dube syndrome 1 MONDO:MONDO:0800445,MedGen:CN375946,OMIM:135150,Orphanet:122 56 56 1.0000 condition_architecture_interpretable 20 0 49 Birt-Hogg-Dube_syndrome_1 425 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ERCC2 mondo_mondo_0011125_medgen_c1866504_omim_601675_orphanet_33364 Trichothiodystrophy 1, photosensitive MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675,Orphanet:33364 56 56 1.0000 condition_architecture_interpretable 20 0 53 Trichothiodystrophy_1,_photosensitive 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHCR7 condition_not_provided condition not provided MedGen:C3661900 56 56 1.0000 condition_record_support_limited 20 56 50 not_provided 300 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA1 human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Breast neoplasm Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 56 56 1.0000 condition_architecture_interpretable 20 0 52 Breast_neoplasm 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control B3GALNT2 mondo_mondo_0014071_medgen_c3554638_omim_615181_orphanet_588_orphanet_899 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 MONDO:MONDO:0014071,MedGen:C3554638,OMIM:615181,Orphanet:588,Orphanet:899 56 56 1.0000 condition_architecture_interpretable 20 0 11 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_11 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASH1L mondo_mondo_0030918_medgen_c4540478_omim_617796 Intellectual disability, autosomal dominant 52 MONDO:MONDO:0030918,MedGen:C4540478,OMIM:617796 56 56 1.0000 condition_architecture_interpretable 20 0 8 Intellectual_disability,_autosomal_dominant_52 99 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AMN mondo_mondo_0009853_medgen_c4551825_omim_ps261100_orphanet_35858 Imerslund-Grasbeck syndrome MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858 56 56 1.0000 condition_architecture_interpretable 20 0 13 Imerslund-Grasbeck_syndrome 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 mondo_mondo_0017182_medgen_c3888018_orphanet_276525 Familial hyperinsulinism MONDO:MONDO:0017182,MedGen:C3888018,Orphanet:276525 56 56 1.0000 condition_architecture_interpretable 20 0 53 Familial_hyperinsulinism 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF462 mondo_mondo_0032836_medgen_c5568107_omim_618619_orphanet_502430 Weiss-Kruszka syndrome MONDO:MONDO:0032836,MedGen:C5568107,OMIM:618619,Orphanet:502430 55 55 1.0000 condition_architecture_interpretable 20 0 7 Weiss-Kruszka_syndrome 84 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture WDR35 mondo_mondo_0013569_medgen_c3279792_omim_614091_orphanet_498497_orphanet_93271 Short-rib thoracic dysplasia 7 with or without polydactyly MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091,Orphanet:498497,Orphanet:93271 55 55 1.0000 condition_architecture_interpretable 20 0 51 Short-rib_thoracic_dysplasia_7_with_or_without_polydactyly 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSHR condition_not_provided condition not provided MedGen:C3661900 55 55 1.0000 condition_record_support_limited 20 55 21 not_provided 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSFM mondo_mondo_0012512_medgen_c1864840_omim_610505_orphanet_168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 MONDO:MONDO:0012512,MedGen:C1864840,OMIM:610505,Orphanet:168566 55 55 1.0000 condition_architecture_interpretable 20 0 25 Fatal_mitochondrial_disease_due_to_combined_oxidative_phosphorylation_defect_type_3 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 mondo_mondo_0011202_medgen_c1865794_omim_602152_orphanet_140976 RHYNS syndrome MONDO:MONDO:0011202,MedGen:C1865794,OMIM:602152,Orphanet:140976 55 55 1.0000 condition_architecture_interpretable 20 0 53 RHYNS_syndrome 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCOF1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 55 55 1.0000 condition_record_support_limited 20 55 23 See_cases|not_provided 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STK11 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 55 55 1.0000 condition_record_support_limited 20 55 39 not_provided|not_specified 395 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control STAT1 mondo_mondo_0013427_medgen_c3151088_omim_613796_orphanet_391311 Immunodeficiency 31B MONDO:MONDO:0013427,MedGen:C3151088,OMIM:613796,Orphanet:391311 55 55 1.0000 condition_architecture_interpretable 20 0 47 Immunodeficiency_31B 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPINK5 mondo_mondo_0009735_medgen_c5574950_omim_256500_orphanet_634 Netherton syndrome MONDO:MONDO:0009735,MedGen:C5574950,OMIM:256500,Orphanet:634 55 55 1.0000 condition_architecture_interpretable 20 0 34 Netherton_syndrome 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX11 mondo_mondo_0014376_medgen_c4014528_omim_615866_orphanet_1465 Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism MONDO:MONDO:0014376,MedGen:C4014528,OMIM:615866,Orphanet:1465 55 55 1.0000 condition_architecture_interpretable 20 0 12 Intellectual_developmental_disorder_with_microcephaly_and_with_or_without_ocular_malformations_or_hypogonadotropic_hypogonadism 84 single_exon_hotspot_opportunity local_compact_architecture SMC1A condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 55 55 1.0000 condition_record_support_limited 20 55 20 See_cases|not_provided 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC38A8 condition_not_provided condition not provided MedGen:C3661900 55 55 1.0000 condition_record_support_limited 20 55 14 not_provided 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETBP1 mondo_mondo_0014482_medgen_c4015141_omim_616078_orphanet_436151 Intellectual disability, autosomal dominant 29 MONDO:MONDO:0014482,MedGen:C4015141,OMIM:616078,Orphanet:436151 55 55 1.0000 condition_architecture_interpretable 20 0 20 Intellectual_disability,_autosomal_dominant_29 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RTEL1 mondo_mondo_0015780_medgen_c0265965_omim_ps127550_orphanet_1775 Dyskeratosis congenita MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775 55 55 1.0000 condition_architecture_interpretable 20 0 35 Dyskeratosis_congenita 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS19 human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Diamond-Blackfan anemia Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 55 55 1.0000 condition_architecture_interpretable 20 0 18 Diamond-Blackfan_anemia 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAPSN mondo_mondo_0100102_medgen_c4760576_omim_618388 Fetal akinesia deformation sequence 2 MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388 55 55 1.0000 condition_architecture_interpretable 20 0 44 Fetal_akinesia_deformation_sequence_2 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3A mondo_mondo_0011897_medgen_cn034185_omim_607694_orphanet_137639_orphanet_447893_orphanet_447896_orphanet_77295_orphanet_88637 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism MONDO:MONDO:0011897,MedGen:CN034185,OMIM:607694,Orphanet:137639,Orphanet:447893,Orphanet:447896,Orphanet:77295,Orphanet:88637 55 55 1.0000 condition_architecture_interpretable 20 0 38 Leukodystrophy,_hypomyelinating,_7,_with_or_without_oligodontia_and/or_hypogonadotropic_hypogonadism 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6B human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 55 55 1.0000 condition_architecture_interpretable 20 0 40 Retinal_dystrophy 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OFD1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 55 55 1.0000 condition_record_support_limited 20 55 18 See_cases|not_provided 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ODAD2 mondo_mondo_0014193_medgen_c3809548_omim_615451_orphanet_244 Primary ciliary dyskinesia 23 MONDO:MONDO:0014193,MedGen:C3809548,OMIM:615451,Orphanet:244 55 55 1.0000 condition_architecture_interpretable 20 0 10 Primary_ciliary_dyskinesia_23 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEU1 condition_not_provided condition not provided MedGen:C3661900 55 55 1.0000 condition_record_support_limited 20 55 25 not_provided 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYT1L mondo_mondo_0014678_medgen_c4225296_omim_616521 Intellectual disability, autosomal dominant 39 MONDO:MONDO:0014678,MedGen:C4225296,OMIM:616521 55 55 1.0000 condition_architecture_interpretable 20 0 12 Intellectual_disability,_autosomal_dominant_39 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYH11 mondo_mondo_0007568_medgen_c1851504_omim_132900 Aortic aneurysm, familial thoracic 4 MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900 55 55 1.0000 condition_architecture_interpretable 20 0 7 Aortic_aneurysm,_familial_thoracic_4 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LMBRD1 mondo_mondo_0010183_medgen_c1848578_omim_277380_orphanet_79284 Methylmalonic aciduria and homocystinuria type cblF MONDO:MONDO:0010183,MedGen:C1848578,OMIM:277380,Orphanet:79284 55 55 1.0000 condition_architecture_interpretable 20 0 4 Methylmalonic_aciduria_and_homocystinuria_type_cblF 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture L1CAM mondo_mondo_0010611_medgen_c0265216_omim_307000_orphanet_2182 X-linked hydrocephalus syndrome MONDO:MONDO:0010611,MedGen:C0265216,OMIM:307000,Orphanet:2182 55 55 1.0000 condition_architecture_interpretable 20 0 29 X-linked_hydrocephalus_syndrome 203 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ2 mondo_mondo_0008222_medgen_c1563715_omim_170390_orphanet_37553 Andersen Tawil syndrome MONDO:MONDO:0008222,MedGen:C1563715,OMIM:170390,Orphanet:37553 55 55 1.0000 condition_architecture_interpretable 20 0 52 Andersen_Tawil_syndrome 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KAT6B mondo_mondo_0011640_medgen_c1853566_omim_606170_orphanet_85201 Genitopatellar syndrome MONDO:MONDO:0011640,MedGen:C1853566,OMIM:606170,Orphanet:85201 55 55 1.0000 condition_architecture_interpretable 20 0 23 Genitopatellar_syndrome 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture IRF2BPL mondo_mondo_0060759_medgen_c4748127_omim_618088_orphanet_597623 Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:MONDO:0060759,MedGen:C4748127,OMIM:618088,Orphanet:597623 55 55 1.0000 condition_architecture_interpretable 20 0 12 Neurodevelopmental_disorder_with_regression,_abnormal_movements,_loss_of_speech,_and_seizures 96 single_exon_hotspot_opportunity local_compact_architecture IL7R mondo_mondo_0012163_medgen_c5676890_omim_608971 Immunodeficiency 104 MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971 55 55 1.0000 condition_architecture_interpretable 20 0 12 Immunodeficiency_104 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSD3B2 mondo_mondo_0008727_mesh_c538236_medgen_c0342471_omim_201810_orphanet_90791 3 beta-Hydroxysteroid dehydrogenase deficiency MONDO:MONDO:0008727,MeSH:C538236,MedGen:C0342471,OMIM:201810,Orphanet:90791 55 55 1.0000 condition_architecture_interpretable 20 0 29 3_beta-Hydroxysteroid_dehydrogenase_deficiency 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HJV condition_not_provided condition not provided MedGen:C3661900 55 55 1.0000 condition_record_support_limited 20 55 28 not_provided 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLA cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 55 55 1.0000 condition_architecture_interpretable 20 0 49 Cardiovascular_phenotype 1115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 55 55 1.0000 condition_record_support_limited 20 55 37 not_provided 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRB3 mondo_mondo_0012843_medgen_c2677087_omim_612269_orphanet_64280 Epilepsy, childhood absence, susceptibility to, 5 MONDO:MONDO:0012843,MedGen:C2677087,OMIM:612269,Orphanet:64280 55 55 1.0000 condition_architecture_interpretable 20 0 52 Epilepsy,_childhood_absence,_susceptibility_to,_5 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBN1 mondo_mondo_0013612_medgen_c3280054_omim_614185_orphanet_2623 Geleophysic dysplasia 2 MONDO:MONDO:0013612,MedGen:C3280054,OMIM:614185,Orphanet:2623 55 55 1.0000 condition_architecture_interpretable 20 0 52 Geleophysic_dysplasia_2 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FARS2 mondo_mondo_0013986_medgen_c4755312_omim_614946_orphanet_319519 Combined oxidative phosphorylation defect type 14 MONDO:MONDO:0013986,MedGen:C4755312,OMIM:614946,Orphanet:319519 55 55 1.0000 condition_architecture_interpretable 20 0 14 Combined_oxidative_phosphorylation_defect_type_14 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELANE human_phenotype_ontology_hp_0040289_mondo_mondo_0008090_medgen_c0221023_omim_162800_orphanet_2686 Cyclical neutropenia Human_Phenotype_Ontology:HP:0040289,MONDO:MONDO:0008090,MedGen:C0221023,OMIM:162800,Orphanet:2686 55 55 1.0000 condition_architecture_interpretable 20 0 52 Cyclical_neutropenia 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC1H1 mondo_mondo_0013805_medgen_c3281202_omim_614563 Intellectual disability, autosomal dominant 13 MONDO:MONDO:0013805,MedGen:C3281202,OMIM:614563 55 55 1.0000 condition_architecture_interpretable 20 0 26 Intellectual_disability,_autosomal_dominant_13 176 large_gene_or_donor_burden_stress_case donor_burden_stress DDX41 mondo_mondo_0014809_medgen_c4225174_omim_616871_orphanet_488647 DDX41-related hematologic malignancy predisposition syndrome MONDO:MONDO:0014809,MedGen:C4225174,OMIM:616871,Orphanet:488647 55 55 1.0000 condition_architecture_interpretable 20 0 32 DDX41-related_hematologic_malignancy_predisposition_syndrome 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP4V2 condition_not_provided condition not provided MedGen:C3661900 55 55 1.0000 condition_record_support_limited 20 55 24 not_provided 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTLA4 mondo_mondo_0014493_medgen_c4015214_omim_616100_orphanet_436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:MONDO:0014493,MedGen:C4015214,OMIM:616100,Orphanet:436159 55 55 1.0000 condition_architecture_interpretable 20 0 12 Autoimmune_lymphoproliferative_syndrome_due_to_CTLA4_haploinsufficiency 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPAP condition_not_provided condition not provided MedGen:C3661900 55 55 1.0000 condition_record_support_limited 20 55 16 not_provided 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CP condition_not_provided condition not provided .|MedGen:C3661900 55 55 1.0000 condition_record_support_limited 20 55 32 .|not_provided 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 55 55 1.0000 condition_record_support_limited 20 55 4 not_provided 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCDC39 mondo_mondo_0013434_medgen_c3151136_omim_613807_orphanet_244 Primary ciliary dyskinesia 14 MONDO:MONDO:0013434,MedGen:C3151136,OMIM:613807,Orphanet:244 55 55 1.0000 condition_architecture_interpretable 20 0 28 Primary_ciliary_dyskinesia_14 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCHE mondo_mondo_0015270_medgen_c1283400_omim_617936_orphanet_132 Deficiency of butyrylcholinesterase MONDO:MONDO:0015270,MedGen:C1283400,OMIM:617936,Orphanet:132 55 55 1.0000 condition_architecture_interpretable 20 0 9 Deficiency_of_butyrylcholinesterase 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AVPR2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 55 55 1.0000 condition_record_support_limited 20 55 23 See_cases|not_provided 109 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACAN mondo_mondo_0100462_medgen_c3665488_omim_165800_orphanet_251262 Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262 55 55 1.0000 condition_architecture_interpretable 20 0 22 Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans 203 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture WWOX mondo_mondo_0013687_medgen_c3280452_omim_614322_orphanet_284282 Autosomal recessive spinocerebellar ataxia 12 MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322,Orphanet:284282 54 54 1.0000 condition_architecture_interpretable 20 0 52 Autosomal_recessive_spinocerebellar_ataxia_12 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTPA mondo_mondo_0010188_medgen_c1848533_omim_277460_orphanet_96 Familial isolated deficiency of vitamin E MONDO:MONDO:0010188,MedGen:C1848533,OMIM:277460,Orphanet:96 54 54 1.0000 condition_architecture_interpretable 20 0 31 Familial_isolated_deficiency_of_vitamin_E 91 compact_adjacent_exon_block_opportunity local_compact_architecture TP63 tp63_related_spectrum_disorders TP63-Related Spectrum Disorders . 54 54 1.0000 condition_architecture_interpretable 20 0 21 TP63-Related_Spectrum_Disorders 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYN1 mondo_mondo_0010339_medgen_c5774177_omim_300491_orphanet_85294 Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:MONDO:0010339,MedGen:C5774177,OMIM:300491,Orphanet:85294 54 54 1.0000 condition_architecture_interpretable 20 0 13 Epilepsy,_X-linked_1,_with_variable_learning_disabilities_and_behavior_disorders 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC45A2 mondo_mondo_0011683_medgen_c1847836_omim_606574_orphanet_79435 Oculocutaneous albinism type 4 MONDO:MONDO:0011683,MedGen:C1847836,OMIM:606574,Orphanet:79435 54 54 1.0000 condition_architecture_interpretable 20 0 39 Oculocutaneous_albinism_type_4 112 compact_adjacent_exon_block_opportunity local_compact_architecture SGCE condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 54 54 1.0000 condition_record_support_limited 20 54 28 not_provided 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RUNX2 mondo_mondo_0007340_medgen_c0008928_omim_119600_orphanet_1452 Cleidocranial dysostosis MONDO:MONDO:0007340,MedGen:C0008928,OMIM:119600,Orphanet:1452 54 54 1.0000 condition_architecture_interpretable 20 0 16 Cleidocranial_dysostosis 166 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RB1 mondo_mondo_0018160_medgen_c0751483_orphanet_357027 Hereditary retinoblastoma MONDO:MONDO:0018160,MedGen:C0751483,Orphanet:357027 54 54 1.0000 condition_architecture_interpretable 20 0 33 Hereditary_retinoblastoma 947 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PIK3CA mondo_mondo_1040002_medgen_c4728213_orphanet_530313 PIK3CA related overgrowth syndrome MONDO:MONDO:1040002,MedGen:C4728213,Orphanet:530313 54 54 1.0000 condition_architecture_interpretable 20 0 41 PIK3CA_related_overgrowth_syndrome 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NHS mondo_mondo_0010545_medgen_c0796085_omim_302350_orphanet_627 Nance-Horan syndrome MONDO:MONDO:0010545,MedGen:C0796085,OMIM:302350,Orphanet:627 54 54 1.0000 condition_architecture_interpretable 20 0 11 Nance-Horan_syndrome 76 compact_adjacent_exon_block_opportunity local_compact_architecture MPZ mondo_mondo_0007307_medgen_c0270912_omim_118200_orphanet_101082 Charcot-Marie-Tooth disease type 1B MONDO:MONDO:0007307,MedGen:C0270912,OMIM:118200,Orphanet:101082 54 54 1.0000 condition_architecture_interpretable 20 0 48 Charcot-Marie-Tooth_disease_type_1B 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARP7 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 54 54 1.0000 condition_record_support_limited 20 54 13 not_provided 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INPP5E mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 54 54 1.0000 condition_architecture_interpretable 20 0 20 Joubert_syndrome 79 compact_adjacent_exon_block_opportunity local_compact_architecture HBB medgen_c0271980 Beta zero thalassemia MedGen:C0271980 54 54 1.0000 condition_architecture_interpretable 20 0 53 Beta_zero_thalassemia 428 compact_adjacent_exon_block_opportunity local_compact_architecture GRM6 condition_not_provided condition not provided MedGen:C3661900 54 54 1.0000 condition_record_support_limited 20 54 12 not_provided 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALE mondo_mondo_0009257_medgen_c0751161_omim_230350_orphanet_352_orphanet_79238 UDPglucose-4-epimerase deficiency MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238 54 54 1.0000 condition_architecture_interpretable 20 0 21 UDPglucose-4-epimerase_deficiency 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXF1 mondo_mondo_0009934_medgen_c2960310_omim_265380_orphanet_210122 Alveolar capillary dysplasia with pulmonary venous misalignment MONDO:MONDO:0009934,MedGen:C2960310,OMIM:265380,Orphanet:210122 54 54 1.0000 condition_architecture_interpretable 20 0 5 Alveolar_capillary_dysplasia_with_pulmonary_venous_misalignment 66 compact_adjacent_exon_block_opportunity local_compact_architecture FMO3 human_phenotype_ontology_hp_0003614_mondo_mondo_0011182_medgen_c0342739_omim_602079 Trimethylaminuria Human_Phenotype_Ontology:HP:0003614,MONDO:MONDO:0011182,MedGen:C0342739,OMIM:602079 54 54 1.0000 condition_architecture_interpretable 20 0 21 Trimethylaminuria 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBN1 mondo_mondo_0011431_medgen_c1858556_omim_604308 MASS syndrome MONDO:MONDO:0011431,MedGen:C1858556,OMIM:604308 54 54 1.0000 condition_architecture_interpretable 20 0 51 MASS_syndrome 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FANCC condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 54 54 1.0000 condition_record_support_limited 20 54 46 not_provided|not_specified 301 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBF3 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 54 54 1.0000 condition_record_support_limited 20 54 19 See_cases|not_provided 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSP mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 Arrhythmogenic right ventricular cardiomyopathy MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 54 54 1.0000 condition_architecture_interpretable 20 0 43 Arrhythmogenic_right_ventricular_cardiomyopathy 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DCAF17 mondo_mondo_0009419_medgen_c0342286_omim_241080_orphanet_3464 Woodhouse-Sakati syndrome MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464 54 54 1.0000 condition_architecture_interpretable 20 0 2 Woodhouse-Sakati_syndrome 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DARS2 mondo_mondo_0012622_medgen_c1970180_omim_611105_orphanet_137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome MONDO:MONDO:0012622,MedGen:C1970180,OMIM:611105,Orphanet:137898 54 54 1.0000 condition_architecture_interpretable 20 0 28 Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLTC condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 54 54 1.0000 condition_record_support_limited 20 54 6 See_cases|not_provided 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN3 mondo_mondo_0019262_medgen_cn293564_orphanet_79264 Juvenile neuronal ceroid lipofuscinosis MONDO:MONDO:0019262,MedGen:CN293564,Orphanet:79264 54 54 1.0000 condition_architecture_interpretable 20 0 37 Juvenile_neuronal_ceroid_lipofuscinosis 220 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHST3 mondo_mondo_0007738_medgen_c1837657_omim_143095_orphanet_263463 Spondyloepiphyseal dysplasia with congenital joint dislocations MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095,Orphanet:263463 54 54 1.0000 condition_architecture_interpretable 20 0 7 Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP78 condition_not_provided condition not provided MedGen:C3661900 54 54 1.0000 condition_record_support_limited 20 54 17 not_provided 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCS1L mondo_mondo_0007415_medgen_c3541471_omim_124000_orphanet_254902 Mitochondrial complex III deficiency nuclear type 1 MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000,Orphanet:254902 54 54 1.0000 condition_architecture_interpretable 20 0 47 Mitochondrial_complex_III_deficiency_nuclear_type_1 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AAAS mondo_mondo_0009279_medgen_c0271742_omim_231550_orphanet_869 Glucocorticoid deficiency with achalasia MONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550,Orphanet:869 54 54 1.0000 condition_architecture_interpretable 20 0 30 Glucocorticoid_deficiency_with_achalasia 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WFS1 mondo_mondo_0007287_medgen_c3805412_omim_116400_orphanet_91492_orphanet_98991_orphanet_98992_orphanet_98995 Cataract 41 MONDO:MONDO:0007287,MedGen:C3805412,OMIM:116400,Orphanet:91492,Orphanet:98991,Orphanet:98992,Orphanet:98995 53 53 1.0000 condition_architecture_interpretable 20 0 52 Cataract_41 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR62 condition_not_provided condition not provided MedGen:C3661900 53 53 1.0000 condition_record_support_limited 20 53 16 not_provided 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAT1 mondo_mondo_0013956_medgen_c4013950_omim_614892_orphanet_319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency MONDO:MONDO:0013956,MedGen:C4013950,OMIM:614892,Orphanet:319595 53 53 1.0000 condition_architecture_interpretable 20 0 48 Mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_STAT1_deficiency 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPEN mondo_mondo_0859143_medgen_c5543339_omim_619312_orphanet_662234 Radio-Tartaglia syndrome MONDO:MONDO:0859143,MedGen:C5543339,OMIM:619312,Orphanet:662234 53 53 1.0000 condition_architecture_interpretable 20 0 11 Radio-Tartaglia_syndrome 101 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SLC2A2 mondo_mondo_0009216_medgen_c3495427_omim_227810_orphanet_2088 Fanconi-Bickel syndrome MONDO:MONDO:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088 53 53 1.0000 condition_architecture_interpretable 20 0 17 Fanconi-Bickel_syndrome 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A1 mondo_mondo_0001586_medgen_c0023786_orphanet_579 Mucopolysaccharidosis type 1 MONDO:MONDO:0001586,MedGen:C0023786,Orphanet:579 53 53 1.0000 condition_architecture_interpretable 20 0 24 Mucopolysaccharidosis_type_1 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC20A2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 53 53 1.0000 condition_record_support_limited 20 53 16 not_provided 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHA condition_not_provided condition not provided MedGen:C3661900 53 53 1.0000 condition_record_support_limited 20 53 45 not_provided 320 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SCN5A mondo_mondo_0011377_medgen_c1859062_omim_603830_orphanet_101016_orphanet_768 Long QT syndrome 3 MONDO:MONDO:0011377,MedGen:C1859062,OMIM:603830,Orphanet:101016,Orphanet:768 53 53 1.0000 condition_architecture_interpretable 20 0 47 Long_QT_syndrome_3 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RXYLT1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 53 53 1.0000 condition_record_support_limited 20 53 11 not_provided 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTCH1 mondo_mondo_0958174_medgen_cn376810_omim_109400 Basal cell nevus syndrome 1 MONDO:MONDO:0958174,MedGen:CN376810,OMIM:109400 53 53 1.0000 condition_architecture_interpretable 20 0 29 Basal_cell_nevus_syndrome_1 736 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIEZO2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 53 53 1.0000 condition_record_support_limited 20 53 18 not_provided 134 large_gene_or_donor_burden_stress_case donor_burden_stress NRXN1 mondo_mondo_0013690_medgen_c3280479_omim_614325_orphanet_221150 Pitt-Hopkins-like syndrome 2 MONDO:MONDO:0013690,MedGen:C3280479,OMIM:614325,Orphanet:221150 53 53 1.0000 condition_architecture_interpretable 20 0 10 Pitt-Hopkins-like_syndrome_2 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYH7 mondo_mondo_0008050_medgen_c4552004_omim_160500_orphanet_59135 MYH7-related skeletal myopathy MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:59135 53 53 1.0000 condition_architecture_interpretable 20 0 46 MYH7-related_skeletal_myopathy 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MSH6 mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 53 53 1.0000 condition_architecture_interpretable 20 0 44 Carcinoma_of_colon 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MLC1 mondo_mondo_0011391_medgen_c1858854_orphanet_2478 Megalencephalic leukoencephalopathy with subcortical cysts MONDO:MONDO:0011391,MedGen:C1858854,Orphanet:2478 53 53 1.0000 condition_architecture_interpretable 20 0 45 Megalencephalic_leukoencephalopathy_with_subcortical_cysts 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITF mondo_mondo_0007077_medgen_c0391816_omim_103500_orphanet_42665 Tietz syndrome MONDO:MONDO:0007077,MedGen:C0391816,OMIM:103500,Orphanet:42665 53 53 1.0000 condition_architecture_interpretable 20 0 50 Tietz_syndrome 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LTBP4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 53 53 1.0000 condition_record_support_limited 20 53 5 not_provided 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMX1B mondo_mondo_0008061_medgen_c0027341_omim_161200_orphanet_2614 Nail-patella syndrome MONDO:MONDO:0008061,MedGen:C0027341,OMIM:161200,Orphanet:2614 53 53 1.0000 condition_architecture_interpretable 20 0 25 Nail-patella_syndrome 148 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNV2 condition_not_provided condition not provided MedGen:C3661900 53 53 1.0000 condition_record_support_limited 20 53 20 not_provided 80 compact_adjacent_exon_block_opportunity local_compact_architecture HYAL1 mondo_mondo_0011093_medgen_c1291490_omim_601492_orphanet_67041 Deficiency of hyaluronoglucosaminidase MONDO:MONDO:0011093,MedGen:C1291490,OMIM:601492,Orphanet:67041 53 53 1.0000 condition_architecture_interpretable 20 0 0 Deficiency_of_hyaluronoglucosaminidase 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSD3B2 condition_not_provided condition not provided MedGen:C3661900 53 53 1.0000 condition_record_support_limited 20 53 28 not_provided 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2D condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 53 53 1.0000 condition_record_support_limited 20 53 48 not_provided|not_specified 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLDC condition_not_provided condition not provided MedGen:C3661900 53 53 1.0000 condition_record_support_limited 20 53 46 not_provided 481 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATAD2B condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 53 53 1.0000 condition_record_support_limited 20 53 20 See_cases|not_provided 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATAD1 medgen_c4551980_omim_234580_orphanet_3220 Heimler syndrome 1 MedGen:C4551980,OMIM:234580,Orphanet:3220 53 53 1.0000 condition_architecture_interpretable 20 0 43 Heimler_syndrome_1 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA3 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 53 53 1.0000 condition_record_support_limited 20 53 14 See_cases|not_provided 109 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBN1 mondo_mondo_0012013_medgen_c1869115_omim_608328_orphanet_2084 Weill-Marchesani syndrome 2, dominant MONDO:MONDO:0012013,MedGen:C1869115,OMIM:608328,Orphanet:2084 53 53 1.0000 condition_architecture_interpretable 20 0 51 Weill-Marchesani_syndrome_2,_dominant 3554 large_gene_or_donor_burden_stress_case donor_burden_stress ENPP1 mondo_mondo_0008817_medgen_c4551985_omim_208000_orphanet_51608 Arterial calcification, generalized, of infancy, 1 MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608 53 53 1.0000 condition_architecture_interpretable 20 0 35 Arterial_calcification,_generalized,_of_infancy,_1 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DMXL2 condition_not_provided condition not provided MedGen:C3661900 53 53 1.0000 condition_record_support_limited 20 53 1 not_provided 61 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DGUOK condition_not_provided condition not provided MedGen:C3661900 53 53 1.0000 condition_record_support_limited 20 53 23 not_provided 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL11A1 mondo_mondo_0011493_medgen_c1858084_omim_604841_orphanet_828_orphanet_90654 Stickler syndrome type 2 MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841,Orphanet:828,Orphanet:90654 53 53 1.0000 condition_architecture_interpretable 20 0 21 Stickler_syndrome_type_2 248 large_gene_or_donor_burden_stress_case donor_burden_stress CHRNE condition_not_provided condition not provided MedGen:C3661900 53 53 1.0000 condition_record_support_limited 20 53 46 not_provided 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHEK2 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 53 53 1.0000 condition_architecture_interpretable 20 0 49 Hereditary_breast_ovarian_cancer_syndrome 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CDKN1B mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 53 53 1.0000 condition_architecture_interpretable 20 0 28 Hereditary_cancer-predisposing_syndrome 114 compact_adjacent_exon_block_opportunity local_compact_architecture C6 condition_not_provided condition not provided MedGen:C3661900 53 53 1.0000 condition_record_support_limited 20 53 12 not_provided 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA1 brca1_related_disorder BRCA1-related disorder . 53 53 1.0000 condition_architecture_interpretable 20 0 51 BRCA1-related_disorder 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BMPR2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 53 53 1.0000 condition_record_support_limited 20 53 37 not_provided|not_specified 502 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AVPR2 mondo_mondo_0010581_medgen_c1563705_omim_304800_orphanet_223 Diabetes insipidus, nephrogenic, X-linked MONDO:MONDO:0010581,MedGen:C1563705,OMIM:304800,Orphanet:223 53 53 1.0000 condition_architecture_interpretable 20 0 25 Diabetes_insipidus,_nephrogenic,_X-linked 109 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 53 53 1.0000 condition_record_support_limited 20 53 35 not_provided|not_specified 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB24 mondo_mondo_0013553_medgen_c3279748_omim_614069_orphanet_2268 Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MONDO:MONDO:0013553,MedGen:C3279748,OMIM:614069,Orphanet:2268 52 52 1.0000 condition_architecture_interpretable 20 0 4 Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_2 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WAS condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 52 52 1.0000 condition_record_support_limited 20 52 28 not_provided 206 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTR condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 52 52 1.0000 condition_record_support_limited 20 52 50 not_provided|not_specified 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIOBP mondo_mondo_0012355_medgen_c1853276_omim_609823_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 28 MONDO:MONDO:0012355,MedGen:C1853276,OMIM:609823,Orphanet:90636 52 52 1.0000 condition_architecture_interpretable 20 0 18 Autosomal_recessive_nonsyndromic_hearing_loss_28 100 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TREX1 mondo_mondo_0008641_medgen_c1860518_omim_192315_orphanet_247691_orphanet_3421_orphanet_63261_orphanet_71291 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:MONDO:0008641,MedGen:C1860518,OMIM:192315,Orphanet:247691,Orphanet:3421,Orphanet:63261,Orphanet:71291 52 52 1.0000 condition_architecture_interpretable 20 0 49 Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC13A5 mondo_mondo_0014392_medgen_c4014621_omim_615905_orphanet_442835 Developmental and epileptic encephalopathy, 25 MONDO:MONDO:0014392,MedGen:C4014621,OMIM:615905,Orphanet:442835 52 52 1.0000 condition_architecture_interpretable 20 0 9 Developmental_and_epileptic_encephalopathy,_25 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL5 human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Diamond-Blackfan anemia Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 52 52 1.0000 condition_architecture_interpretable 20 0 11 Diamond-Blackfan_anemia 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTEN mondo_mondo_0013092_medgen_c2751642_omim_613028_orphanet_182067 Glioma susceptibility 2 MONDO:MONDO:0013092,MedGen:C2751642,OMIM:613028,Orphanet:182067 52 52 1.0000 condition_architecture_interpretable 20 0 46 Glioma_susceptibility_2 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PRPF31 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 52 52 1.0000 condition_architecture_interpretable 20 0 24 Retinitis_pigmentosa 261 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR5A1 mondo_mondo_0013066_medgen_c3489793_omim_612965 46,XY sex reversal 3 MONDO:MONDO:0013066,MedGen:C3489793,OMIM:612965 52 52 1.0000 condition_architecture_interpretable 20 0 18 46,XY_sex_reversal_3 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MLH1 lynch_like_syndrome Lynch-like syndrome . 52 52 1.0000 condition_architecture_interpretable 20 0 39 Lynch-like_syndrome 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MFN2 mondo_mondo_0012231_medgen_c4721887_omim_609260_orphanet_99947 Charcot-Marie-Tooth disease type 2A2 MONDO:MONDO:0012231,MedGen:C4721887,OMIM:609260,Orphanet:99947 52 52 1.0000 condition_architecture_interpretable 20 0 37 Charcot-Marie-Tooth_disease_type_2A2 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LIPA mondo_mondo_0019149_medgen_c0008384_omim_278000_orphanet_75234 Cholesteryl ester storage disease MONDO:MONDO:0019149,MedGen:C0008384,OMIM:278000,Orphanet:75234 52 52 1.0000 condition_architecture_interpretable 20 0 45 Cholesteryl_ester_storage_disease 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITPR1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 52 52 1.0000 condition_record_support_limited 20 52 17 not_provided|not_specified 85 large_gene_or_donor_burden_stress_case donor_burden_stress HPS1 mondo_mondo_0019312_medgen_c0079504_omim_ps203300_orphanet_79430 Hermansky-Pudlak syndrome MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430 52 52 1.0000 condition_architecture_interpretable 20 0 40 Hermansky-Pudlak_syndrome 194 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMGCS2 mondo_mondo_0011614_medgen_c2751532_omim_605911_orphanet_35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency MONDO:MONDO:0011614,MedGen:C2751532,OMIM:605911,Orphanet:35701 52 52 1.0000 condition_architecture_interpretable 20 0 6 3-hydroxy-3-methylglutaryl-CoA_synthase_deficiency 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HBA2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 52 52 1.0000 condition_record_support_limited 20 52 44 not_provided|not_specified 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation GAN mondo_mondo_0009749_medgen_c1850386_omim_256850_orphanet_643 Giant axonal neuropathy 1 MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850,Orphanet:643 52 52 1.0000 condition_architecture_interpretable 20 0 4 Giant_axonal_neuropathy_1 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALNT3 condition_not_provided condition not provided MedGen:C3661900 52 52 1.0000 condition_record_support_limited 20 52 20 not_provided 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXRED1 condition_not_provided condition not provided MedGen:C3661900 52 52 1.0000 condition_record_support_limited 20 52 10 not_provided 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBP1 mondo_mondo_0009251_medgen_c0016756_omim_229700_orphanet_348 Fructose-biphosphatase deficiency MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348 52 52 1.0000 condition_architecture_interpretable 20 0 9 Fructose-biphosphatase_deficiency 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBN1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 52 52 1.0000 condition_architecture_interpretable 20 0 36 Cardiovascular_phenotype 3554 large_gene_or_donor_burden_stress_case donor_burden_stress CYP19A1 condition_not_provided condition not provided MedGen:C3661900 52 52 1.0000 condition_record_support_limited 20 52 12 not_provided 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTCF mondo_mondo_0014213_medgen_c3809686_omim_615502_orphanet_363611 CTCF-related neurodevelopmental disorder MONDO:MONDO:0014213,MedGen:C3809686,OMIM:615502,Orphanet:363611 52 52 1.0000 condition_architecture_interpretable 20 0 12 CTCF-related_neurodevelopmental_disorder 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHST6 mondo_mondo_0009020_medgen_c1636149_omim_217800_orphanet_98969 Macular corneal dystrophy MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800,Orphanet:98969 52 52 1.0000 condition_architecture_interpretable 20 0 3 Macular_corneal_dystrophy 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFH mondo_mondo_0012350_medgen_c0398777_omim_609814 Factor H deficiency MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814 52 52 1.0000 condition_architecture_interpretable 20 0 45 Factor_H_deficiency 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRPF1 mondo_mondo_0015022_medgen_c4310617_omim_617333_orphanet_698090 Intellectual developmental disorder with dysmorphic facies and ptosis MONDO:MONDO:0015022,MedGen:C4310617,OMIM:617333,Orphanet:698090 52 52 1.0000 condition_architecture_interpretable 20 0 10 Intellectual_developmental_disorder_with_dysmorphic_facies_and_ptosis 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA2 human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Breast neoplasm Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 52 52 1.0000 condition_architecture_interpretable 20 0 47 Breast_neoplasm 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BAP1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 52 52 1.0000 condition_record_support_limited 20 52 34 not_provided 413 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control AUTS2 mondo_mondo_0014361_medgen_c4014435_omim_615834_orphanet_352490 Autism spectrum disorder due to AUTS2 deficiency MONDO:MONDO:0014361,MedGen:C4014435,OMIM:615834,Orphanet:352490 52 52 1.0000 condition_architecture_interpretable 20 0 12 Autism_spectrum_disorder_due_to_AUTS2_deficiency 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATRIP mondo_mondo_0008641_medgen_c1860518_omim_192315_orphanet_247691_orphanet_3421_orphanet_63261_orphanet_71291 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:MONDO:0008641,MedGen:C1860518,OMIM:192315,Orphanet:247691,Orphanet:3421,Orphanet:63261,Orphanet:71291 52 52 1.0000 condition_architecture_interpretable 20 0 49 Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARX mondo_mondo_0010317_medgen_c0796244_omim_300419_orphanet_777 Intellectual disability, X-linked, with or without seizures, ARX-related MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419,Orphanet:777 52 52 1.0000 condition_architecture_interpretable 20 0 46 Intellectual_disability,_X-linked,_with_or_without_seizures,_ARX-related 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTS18 condition_not_provided condition not provided MedGen:C3661900 52 52 1.0000 condition_record_support_limited 20 52 5 not_provided 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WFS1 human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Type 2 diabetes mellitus Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 51 51 1.0000 condition_architecture_interpretable 20 0 51 Type_2_diabetes_mellitus 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPM6 mondo_mondo_0011176_medgen_c1865974_omim_602014_orphanet_30924 Intestinal hypomagnesemia 1 MONDO:MONDO:0011176,MedGen:C1865974,OMIM:602014,Orphanet:30924 51 51 1.0000 condition_architecture_interpretable 20 0 5 Intestinal_hypomagnesemia_1 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TREX1 mondo_mondo_0012500_medgen_c0024145_omim_610448 Chilblain lupus 1 MONDO:MONDO:0012500,MedGen:C0024145,OMIM:610448 51 51 1.0000 condition_architecture_interpretable 20 0 50 Chilblain_lupus_1 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 mondo_mondo_0014442_medgen_c2673874_omim_615991_orphanet_110 Bardet-Biedl syndrome 14 MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110 51 51 1.0000 condition_architecture_interpretable 20 0 51 Bardet-Biedl_syndrome_14 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAT3 medgen_c4288261 STAT3 gain of function MedGen:C4288261 51 51 1.0000 condition_architecture_interpretable 20 0 51 STAT3_gain_of_function 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SRCAP condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 51 51 1.0000 condition_record_support_limited 20 51 17 not_provided 111 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SMC3 mondo_mondo_0012555_medgen_c1853099_omim_610759_orphanet_199 Cornelia de Lange syndrome 3 MONDO:MONDO:0012555,MedGen:C1853099,OMIM:610759,Orphanet:199 51 51 1.0000 condition_architecture_interpretable 20 0 9 Cornelia_de_Lange_syndrome_3 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLCO2A1 mondo_mondo_0013756_medgen_c3280800_omim_614441_orphanet_2796 Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 MONDO:MONDO:0013756,MedGen:C3280800,OMIM:614441,Orphanet:2796 51 51 1.0000 condition_architecture_interpretable 20 0 18 Hypertrophic_osteoarthropathy,_primary,_autosomal_recessive,_2 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SIN3A condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 51 51 1.0000 condition_record_support_limited 20 51 7 See_cases|not_provided 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN1A human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 51 51 1.0000 condition_architecture_interpretable 20 0 29 Seizure 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RANBP2 mondo_mondo_0016619_medgen_c0406702_orphanet_248 Autosomal recessive hypohidrotic ectodermal dysplasia syndrome MONDO:MONDO:0016619,MedGen:C0406702,Orphanet:248 51 51 1.0000 condition_architecture_interpretable 20 0 51 Autosomal_recessive_hypohidrotic_ectodermal_dysplasia_syndrome 96 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture QRICH1 mondo_mondo_0979877_medgen_c4693824_omim_ps617982 Ververi-Brady syndrome MONDO:MONDO:0979877,MedGen:C4693824,OMIM:PS617982 51 51 1.0000 condition_architecture_interpretable 20 0 13 Ververi-Brady_syndrome 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PREPL mondo_mondo_0044299_medgen_c4479088_omim_616224 Myasthenic syndrome, congenital, 22 MONDO:MONDO:0044299,MedGen:C4479088,OMIM:616224 51 51 1.0000 condition_architecture_interpretable 20 0 7 Myasthenic_syndrome,_congenital,_22 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 51 51 1.0000 condition_record_support_limited 20 51 41 See_cases|not_provided|not_specified 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PBX1 mondo_mondo_0060549_medgen_c4539968_omim_617641_orphanet_656130 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay MONDO:MONDO:0060549,MedGen:C4539968,OMIM:617641,Orphanet:656130 51 51 1.0000 condition_architecture_interpretable 20 0 11 Congenital_anomalies_of_kidney_and_urinary_tract_syndrome_with_or_without_hearing_loss,_abnormal_ears,_or_developmental_delay 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAH pah_related_disorder PAH-related disorder . 51 51 1.0000 condition_architecture_interpretable 20 0 51 PAH-related_disorder 886 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTOG mondo_mondo_0013985_medgen_c3554163_omim_614945_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 18B MONDO:MONDO:0013985,MedGen:C3554163,OMIM:614945,Orphanet:90636 51 51 1.0000 condition_architecture_interpretable 20 0 18 Autosomal_recessive_nonsyndromic_hearing_loss_18B 130 large_gene_or_donor_burden_stress_case donor_burden_stress OPTN mondo_mondo_0013264_medgen_c3150692_omim_613435_orphanet_803 Amyotrophic lateral sclerosis type 12 MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435,Orphanet:803 51 51 1.0000 condition_architecture_interpretable 20 0 41 Amyotrophic_lateral_sclerosis_type_12 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR2F1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 51 51 1.0000 condition_record_support_limited 20 51 12 See_cases|not_provided|not_specified 118 compact_adjacent_exon_block_opportunity local_compact_architecture NDP condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 51 51 1.0000 condition_record_support_limited 20 51 17 not_provided 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 51 51 1.0000 condition_record_support_limited 20 51 44 not_provided|not_specified 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 mondo_mondo_0010235_medgen_c0796222_omim_300055_orphanet_3077 X-linked intellectual disability-psychosis-macroorchidism syndrome MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055,Orphanet:3077 51 51 1.0000 condition_architecture_interpretable 20 0 44 X-linked_intellectual_disability-psychosis-macroorchidism_syndrome 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAGEL2 mondo_mondo_0014243_medgen_c5575066_omim_615547_orphanet_398069 Schaaf-Yang syndrome MONDO:MONDO:0014243,MedGen:C5575066,OMIM:615547,Orphanet:398069 51 51 1.0000 condition_architecture_interpretable 20 0 10 Schaaf-Yang_syndrome 95 single_exon_hotspot_opportunity local_compact_architecture KMT2B mondo_mondo_0015004_medgen_c4310633_omim_617284_orphanet_589618 Dystonia 28, childhood-onset MONDO:MONDO:0015004,MedGen:C4310633,OMIM:617284,Orphanet:589618 51 51 1.0000 condition_architecture_interpretable 20 0 16 Dystonia_28,_childhood-onset 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture IMPG2 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 51 51 1.0000 condition_architecture_interpretable 20 0 27 Retinal_dystrophy 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HJV mondo_mondo_0011216_medgen_c1865614_omim_602390_orphanet_79230 Hemochromatosis type 2A MONDO:MONDO:0011216,MedGen:C1865614,OMIM:602390,Orphanet:79230 51 51 1.0000 condition_architecture_interpretable 20 0 29 Hemochromatosis_type_2A 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP1BA mondo_mondo_0009276_mesh_d001606_medgen_c0005129_omim_231200_orphanet_274 Bernard Soulier syndrome MONDO:MONDO:0009276,MeSH:D001606,MedGen:C0005129,OMIM:231200,Orphanet:274 51 51 1.0000 condition_architecture_interpretable 20 0 21 Bernard_Soulier_syndrome 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRB3 mondo_mondo_0020759_medgen_c1838604_omim_600131_orphanet_64280 Epilepsy, childhood absence, susceptibility to, 1 MONDO:MONDO:0020759,MedGen:C1838604,OMIM:600131,Orphanet:64280 51 51 1.0000 condition_architecture_interpretable 20 0 51 Epilepsy,_childhood_absence,_susceptibility_to,_1 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F8 mondo_mondo_0010604_mesh_d002836_medgen_c0008533_omim_306900_orphanet_98879 Hereditary factor IX deficiency disease MONDO:MONDO:0010604,MeSH:D002836,MedGen:C0008533,OMIM:306900,Orphanet:98879 51 51 1.0000 condition_architecture_interpretable 20 0 31 Hereditary_factor_IX_deficiency_disease 641 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EIF2B5 mondo_mondo_0800448_medgen_c1858991_omim_ps603896_orphanet_135_orphanet_99853 Vanishing white matter disease MONDO:MONDO:0800448,MedGen:C1858991,OMIM:PS603896,Orphanet:135,Orphanet:99853 51 51 1.0000 condition_architecture_interpretable 20 0 34 Vanishing_white_matter_disease 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EDAR mondo_mondo_0016619_medgen_c0406702_orphanet_248 Autosomal recessive hypohidrotic ectodermal dysplasia syndrome MONDO:MONDO:0016619,MedGen:C0406702,Orphanet:248 51 51 1.0000 condition_architecture_interpretable 20 0 51 Autosomal_recessive_hypohidrotic_ectodermal_dysplasia_syndrome 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ECEL1 mondo_mondo_0014028_medgen_c3554415_omim_615065_orphanet_329457 Distal arthrogryposis type 5D MONDO:MONDO:0014028,MedGen:C3554415,OMIM:615065,Orphanet:329457 51 51 1.0000 condition_architecture_interpretable 20 0 9 Distal_arthrogryposis_type_5D 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNOT3 mondo_mondo_0032864_medgen_c5231456_omim_618672 Intellectual developmental disorder with speech delay, autism, and dysmorphic facies MONDO:MONDO:0032864,MedGen:C5231456,OMIM:618672 51 51 1.0000 condition_architecture_interpretable 20 0 6 Intellectual_developmental_disorder_with_speech_delay,_autism,_and_dysmorphic_facies 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNG condition_not_provided condition not provided MedGen:C3661900 51 51 1.0000 condition_record_support_limited 20 51 24 not_provided 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNG mondo_mondo_0009926_medgen_c0265261_omim_265000_orphanet_2990 Autosomal recessive multiple pterygium syndrome MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000,Orphanet:2990 51 51 1.0000 condition_architecture_interpretable 20 0 43 Autosomal_recessive_multiple_pterygium_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASD1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 51 51 1.0000 condition_record_support_limited 20 51 26 not_provided 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS5 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 51 51 1.0000 condition_architecture_interpretable 20 0 25 Bardet-Biedl_syndrome 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATRIP mondo_mondo_0012500_medgen_c0024145_omim_610448 Chilblain lupus 1 MONDO:MONDO:0012500,MedGen:C0024145,OMIM:610448 51 51 1.0000 condition_architecture_interpretable 20 0 50 Chilblain_lupus_1 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACO2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 51 51 1.0000 condition_record_support_limited 20 51 6 not_provided 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZMYND11 mondo_mondo_0014486_medgen_c4015167_omim_616083_orphanet_436151_orphanet_694304 Intellectual disability, autosomal dominant 30 MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083,Orphanet:436151,Orphanet:694304 50 50 1.0000 condition_architecture_interpretable 20 0 17 Intellectual_disability,_autosomal_dominant_30 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WWOX mondo_mondo_0010632_medgen_c3463992_omim_308350 Developmental and epileptic encephalopathy, 1 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 50 50 1.0000 condition_architecture_interpretable 20 0 49 Developmental_and_epileptic_encephalopathy,_1 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBR1 condition_not_provided condition not provided MedGen:C3661900 50 50 1.0000 condition_record_support_limited 20 50 5 not_provided 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRIP12 mondo_mondo_0030914_medgen_c2931130_omim_617752_orphanet_600731 Clark-Baraitser syndrome MONDO:MONDO:0030914,MedGen:C2931130,OMIM:617752,Orphanet:600731 50 50 1.0000 condition_architecture_interpretable 20 0 11 Clark-Baraitser_syndrome 98 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TP53 tp53_related_disorder TP53-related disorder . 50 50 1.0000 condition_architecture_interpretable 20 0 47 TP53-related_disorder 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TBX5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 50 50 1.0000 condition_record_support_limited 20 50 18 not_provided 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCE condition_not_provided condition not provided MedGen:C3661900 50 50 1.0000 condition_record_support_limited 20 50 10 not_provided 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG11 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 50 50 1.0000 condition_architecture_interpretable 20 0 41 Hereditary_spastic_paraplegia 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SLC35A3 mondo_mondo_0014248_medgen_c3809910_omim_615553_orphanet_370943 Autism spectrum disorder - epilepsy - arthrogryposis syndrome MONDO:MONDO:0014248,MedGen:C3809910,OMIM:615553,Orphanet:370943 50 50 1.0000 condition_architecture_interpretable 20 0 2 Autism_spectrum_disorder_-_epilepsy_-_arthrogryposis_syndrome 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A38 mondo_mondo_0008785_medgen_c4225425_omim_205950_orphanet_260305 Sideroblastic anemia 2 MONDO:MONDO:0008785,MedGen:C4225425,OMIM:205950,Orphanet:260305 50 50 1.0000 condition_architecture_interpretable 20 0 6 Sideroblastic_anemia_2 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RP1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 50 50 1.0000 condition_architecture_interpretable 20 0 34 Retinitis_pigmentosa 334 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RIF1 mondo_mondo_0018958_medgen_c0206157_omim_ps161800_orphanet_607 Nemaline myopathy MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607 50 50 1.0000 condition_architecture_interpretable 20 0 36 Nemaline_myopathy 500 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAG1 condition_not_provided condition not provided MedGen:C3661900 50 50 1.0000 condition_record_support_limited 20 50 45 not_provided 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 50 50 1.0000 condition_record_support_limited 20 50 36 not_provided 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHKG2 mondo_mondo_0013091_medgen_c2751643_omim_613027_orphanet_264580 Glycogen storage disease IXc MONDO:MONDO:0013091,MedGen:C2751643,OMIM:613027,Orphanet:264580 50 50 1.0000 condition_architecture_interpretable 20 0 9 Glycogen_storage_disease_IXc 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OFD1 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 50 50 1.0000 condition_architecture_interpretable 20 0 50 Joubert_syndrome 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPR2 mondo_mondo_0014401_medgen_c4014690_omim_615923_orphanet_329191 Tall stature-scoliosis-macrodactyly of the great toes syndrome MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923,Orphanet:329191 50 50 1.0000 condition_architecture_interpretable 20 0 46 Tall_stature-scoliosis-macrodactyly_of_the_great_toes_syndrome 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP3 mondo_mondo_0009966_medgen_c2673885_omim_267010_orphanet_3032 NPHP3-related Meckel-like syndrome MONDO:MONDO:0009966,MedGen:C2673885,OMIM:267010,Orphanet:3032 50 50 1.0000 condition_architecture_interpretable 20 0 48 NPHP3-related_Meckel-like_syndrome 161 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYPN mondo_mondo_0014100_medgen_c3714995_omim_615248_orphanet_154_orphanet_75249 Dilated cardiomyopathy 1KK MONDO:MONDO:0014100,MedGen:C3714995,OMIM:615248,Orphanet:154,Orphanet:75249 50 50 1.0000 condition_architecture_interpretable 20 0 8 Dilated_cardiomyopathy_1KK 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 50 50 1.0000 condition_architecture_interpretable 20 0 49 Charcot-Marie-Tooth_disease 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCPH1 condition_not_provided condition not provided .|MedGen:C3661900 50 50 1.0000 condition_record_support_limited 20 50 16 See_cases|not_provided 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LEMD3 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 50 50 1.0000 condition_record_support_limited 20 50 6 See_cases|not_provided 70 compact_adjacent_exon_block_opportunity local_compact_architecture KCNJ1 mondo_mondo_0009424_medgen_c1855849_omim_241200_orphanet_112_orphanet_620220 Bartter disease type 2 MONDO:MONDO:0009424,MedGen:C1855849,OMIM:241200,Orphanet:112,Orphanet:620220 50 50 1.0000 condition_architecture_interpretable 20 0 21 Bartter_disease_type_2 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INVS mondo_mondo_0011190_medgen_c1865872_omim_602088_orphanet_655_orphanet_93591 Infantile nephronophthisis MONDO:MONDO:0011190,MedGen:C1865872,OMIM:602088,Orphanet:655,Orphanet:93591 50 50 1.0000 condition_architecture_interpretable 20 0 27 Infantile_nephronophthisis 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 50 50 1.0000 condition_record_support_limited 20 50 13 not_provided 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLE1 lethal_congenital_contractural_syndrome_finnish_type Lethal congenital contractural syndrome Finnish type . 50 50 1.0000 condition_architecture_interpretable 20 0 27 Lethal_congenital_contractural_syndrome_Finnish_type 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PC3 mondo_mondo_0012930_medgen_c2751630_omim_612541_orphanet_331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:MONDO:0012930,MedGen:C2751630,OMIM:612541,Orphanet:331176 50 50 1.0000 condition_architecture_interpretable 20 0 12 Autosomal_recessive_severe_congenital_neutropenia_due_to_G6PC3_deficiency 52 compact_adjacent_exon_block_opportunity local_compact_architecture FGFR1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 50 50 1.0000 condition_record_support_limited 20 50 25 not_provided 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCD2OS mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 Fanconi anemia MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 50 50 1.0000 condition_architecture_interpretable 20 0 18 Fanconi_anemia 72 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELN condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 50 50 1.0000 condition_record_support_limited 20 50 18 not_provided 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2AK4 mondo_mondo_0009329_medgen_c0340848_omim_234810_orphanet_199241 Familial pulmonary capillary hemangiomatosis MONDO:MONDO:0009329,MedGen:C0340848,OMIM:234810,Orphanet:199241 50 50 1.0000 condition_architecture_interpretable 20 0 11 Familial_pulmonary_capillary_hemangiomatosis 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2A1 mondo_mondo_0014893_medgen_c4310739_omim_617062_orphanet_689422 Okur-Chung neurodevelopmental syndrome MONDO:MONDO:0014893,MedGen:C4310739,OMIM:617062,Orphanet:689422 50 50 1.0000 condition_architecture_interpretable 20 0 22 Okur-Chung_neurodevelopmental_syndrome 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCNKB condition_not_provided condition not provided MedGen:C3661900 50 50 1.0000 condition_record_support_limited 20 50 27 not_provided 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEBPA human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Acute myeloid leukemia Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 50 50 1.0000 condition_architecture_interpretable 20 0 4 Acute_myeloid_leukemia 67 single_exon_hotspot_opportunity local_compact_architecture CC2D1A condition_not_provided condition not provided MedGen:C3661900 50 50 1.0000 condition_record_support_limited 20 50 8 not_provided 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 50 50 1.0000 condition_record_support_limited 20 50 30 not_provided 134 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AOPEP mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 50 50 1.0000 condition_architecture_interpretable 20 0 42 Hereditary_cancer-predisposing_syndrome 191 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA12 mondo_mondo_0009443_medgen_c0598226_omim_242500_orphanet_457 Autosomal recessive congenital ichthyosis 4B MONDO:MONDO:0009443,MedGen:C0598226,OMIM:242500,Orphanet:457 50 50 1.0000 condition_architecture_interpretable 20 0 35 Autosomal_recessive_congenital_ichthyosis_4B 206 large_gene_or_donor_burden_stress_case donor_burden_stress WNK1 mondo_mondo_0013778_medgen_c1840391_omim_614492_orphanet_757_orphanet_88940 Pseudohypoaldosteronism type 2C MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940 49 49 1.0000 condition_architecture_interpretable 20 0 46 Pseudohypoaldosteronism_type_2C 71 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture WDR19 mondo_mondo_0013719_medgen_c3280616_omim_614378_orphanet_1515 Cranioectodermal dysplasia 4 MONDO:MONDO:0013719,MedGen:C3280616,OMIM:614378,Orphanet:1515 49 49 1.0000 condition_architecture_interpretable 20 0 46 Cranioectodermal_dysplasia_4 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UNC80 mondo_mondo_0014777_medgen_c4225203_omim_616801_orphanet_371364_orphanet_700333 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 MONDO:MONDO:0014777,MedGen:C4225203,OMIM:616801,Orphanet:371364,Orphanet:700333 49 49 1.0000 condition_architecture_interpretable 20 0 25 Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_2 147 large_gene_or_donor_burden_stress_case donor_burden_stress TRAPPC9 condition_not_provided condition not provided MedGen:C3661900 49 49 1.0000 condition_record_support_limited 20 49 14 not_provided 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP63 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 49 49 1.0000 condition_record_support_limited 20 49 25 not_provided 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNI3 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 49 49 1.0000 condition_architecture_interpretable 20 0 20 Hypertrophic_cardiomyopathy 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TLK2 mondo_mondo_0054837_medgen_c4748003_omim_618050 Intellectual disability, autosomal dominant 57 MONDO:MONDO:0054837,MedGen:C4748003,OMIM:618050 49 49 1.0000 condition_architecture_interpretable 20 0 14 Intellectual_disability,_autosomal_dominant_57 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture THRB mondo_mondo_0008569_medgen_c2937288_omim_188570 Thyroid hormone resistance, generalized, autosomal dominant MONDO:MONDO:0008569,MedGen:C2937288,OMIM:188570 49 49 1.0000 condition_architecture_interpretable 20 0 29 Thyroid_hormone_resistance,_generalized,_autosomal_dominant 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCTN2 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 49 49 1.0000 condition_architecture_interpretable 20 0 47 Joubert_syndrome 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPTAN1 mondo_mondo_0800491_medgen_c0393706_orphanet_1934 Early-infantile DEE MONDO:MONDO:0800491,MedGen:C0393706,Orphanet:1934 49 49 1.0000 condition_architecture_interpretable 20 0 9 Early-infantile_DEE 131 large_gene_or_donor_burden_stress_case donor_burden_stress SMCHD1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 49 49 1.0000 condition_record_support_limited 20 49 14 not_provided 140 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SMAD4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 49 49 1.0000 condition_record_support_limited 20 49 36 not_provided 300 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SLC2A10 mondo_mondo_0008818_medgen_c1859726_omim_208050_orphanet_3342 Arterial tortuosity syndrome MONDO:MONDO:0008818,MedGen:C1859726,OMIM:208050,Orphanet:3342 49 49 1.0000 condition_architecture_interpretable 20 0 19 Arterial_tortuosity_syndrome 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SIN3A mondo_mondo_0044700_medgen_c4310804_omim_613406_orphanet_500166_orphanet_94065 SIN3A-related intellectual disability syndrome due to a point mutation MONDO:MONDO:0044700,MedGen:C4310804,OMIM:613406,Orphanet:500166,Orphanet:94065 49 49 1.0000 condition_architecture_interpretable 20 0 7 SIN3A-related_intellectual_disability_syndrome_due_to_a_point_mutation 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETX condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 49 49 1.0000 condition_record_support_limited 20 49 23 not_provided 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SDHD mondo_mondo_0008192_medgen_c3494181_omim_168000_orphanet_29072 Pheochromocytoma/paraganglioma syndrome 1 MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000,Orphanet:29072 49 49 1.0000 condition_architecture_interpretable 20 0 40 Pheochromocytoma/paraganglioma_syndrome_1 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB27A mondo_mondo_0011872_medgen_c1868679_omim_607624_orphanet_381_orphanet_79477 Griscelli syndrome type 2 MONDO:MONDO:0011872,MedGen:C1868679,OMIM:607624,Orphanet:381,Orphanet:79477 49 49 1.0000 condition_architecture_interpretable 20 0 13 Griscelli_syndrome_type_2 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 49 49 1.0000 condition_architecture_interpretable 20 0 48 Cardiovascular_phenotype 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD2 human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Polycystic kidney disease Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 49 49 1.0000 condition_architecture_interpretable 20 0 37 Polycystic_kidney_disease 428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NT5DC1 condition_not_provided condition not provided MedGen:C3661900 49 49 1.0000 condition_record_support_limited 20 49 13 not_provided 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP4 mondo_mondo_0011756_medgen_c1846979_omim_606996_orphanet_3156 Senior-Loken syndrome 4 MONDO:MONDO:0011756,MedGen:C1846979,OMIM:606996,Orphanet:3156 49 49 1.0000 condition_architecture_interpretable 20 0 48 Senior-Loken_syndrome_4 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYOC human_phenotype_ontology_hp_0012108_mondo_mondo_0005338_medgen_c0017612 Open-angle glaucoma Human_Phenotype_Ontology:HP:0012108,MONDO:MONDO:0005338,MedGen:C0017612 49 49 1.0000 condition_architecture_interpretable 20 0 19 Open-angle_glaucoma 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYH7 mondo_mondo_0008409_medgen_c1842160_omim_608358_orphanet_437572_orphanet_636965 Myosin storage myopathy MONDO:MONDO:0008409,MedGen:C1842160,OMIM:608358,Orphanet:437572,Orphanet:636965 49 49 1.0000 condition_architecture_interpretable 20 0 43 Myosin_storage_myopathy 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MITF mondo_mondo_0013759_medgen_c3152204_omim_614456_orphanet_293822 Melanoma, cutaneous malignant, susceptibility to, 8 MONDO:MONDO:0013759,MedGen:C3152204,OMIM:614456,Orphanet:293822 49 49 1.0000 condition_architecture_interpretable 20 0 49 Melanoma,_cutaneous_malignant,_susceptibility_to,_8 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MESP2 mondo_mondo_0012097_medgen_c1837549_omim_608681_orphanet_2311 Spondylocostal dysostosis 2, autosomal recessive MONDO:MONDO:0012097,MedGen:C1837549,OMIM:608681,Orphanet:2311 49 49 1.0000 condition_architecture_interpretable 20 0 11 Spondylocostal_dysostosis_2,_autosomal_recessive 77 compact_adjacent_exon_block_opportunity local_compact_architecture KMT2C condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 49 49 1.0000 condition_record_support_limited 20 49 14 not_provided 174 large_gene_or_donor_burden_stress_case donor_burden_stress HYDIN mondo_mondo_0012088_medgen_c1837615_omim_608647_orphanet_244 Primary ciliary dyskinesia 5 MONDO:MONDO:0012088,MedGen:C1837615,OMIM:608647,Orphanet:244 49 49 1.0000 condition_architecture_interpretable 20 0 0 Primary_ciliary_dyskinesia_5 66 large_gene_or_donor_burden_stress_case donor_burden_stress GSS human_phenotype_ontology_hp_0003343_mondo_mondo_0009947_medgen_c0398746_omim_266130_orphanet_289846 Glutathione synthetase deficiency with 5-oxoprolinuria Human_Phenotype_Ontology:HP:0003343,MONDO:MONDO:0009947,MedGen:C0398746,OMIM:266130,Orphanet:289846 49 49 1.0000 condition_architecture_interpretable 20 0 23 Glutathione_synthetase_deficiency_with_5-oxoprolinuria 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNPTAB mondo_mondo_0019248_medgen_c0026697_orphanet_79212 Mucolipidosis MONDO:MONDO:0019248,MedGen:C0026697,Orphanet:79212 49 49 1.0000 condition_architecture_interpretable 20 0 40 Mucolipidosis 436 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBN1 isolated_thoracic_aortic_aneurysm Isolated thoracic aortic aneurysm . 49 49 1.0000 condition_architecture_interpretable 20 0 35 Isolated_thoracic_aortic_aneurysm 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FAN1 mondo_mondo_0013898_medgen_c3553774_omim_614817_orphanet_401996 Karyomegalic interstitial nephritis MONDO:MONDO:0013898,MedGen:C3553774,OMIM:614817,Orphanet:401996 49 49 1.0000 condition_architecture_interpretable 20 0 8 Karyomegalic_interstitial_nephritis 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F7 mondo_mondo_0009211_medgen_c0272320_omim_227500_orphanet_327 Congenital factor VII deficiency MONDO:MONDO:0009211,MedGen:C0272320,OMIM:227500,Orphanet:327 49 49 1.0000 condition_architecture_interpretable 20 0 33 Congenital_factor_VII_deficiency 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXT2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 49 49 1.0000 condition_record_support_limited 20 49 36 not_provided 221 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 49 49 1.0000 condition_record_support_limited 20 49 20 not_provided|not_specified 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHTKD1 mondo_mondo_0008774_medgen_c1859817_omim_204750_orphanet_79154 2-aminoadipic 2-oxoadipic aciduria MONDO:MONDO:0008774,MedGen:C1859817,OMIM:204750,Orphanet:79154 49 49 1.0000 condition_architecture_interpretable 20 0 11 2-aminoadipic_2-oxoadipic_aciduria 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL10A1 condition_not_provided condition not provided MedGen:C3661900 49 49 1.0000 condition_record_support_limited 20 49 13 not_provided 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 49 49 1.0000 condition_record_support_limited 20 49 17 not_provided 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFI condition_not_provided condition not provided MedGen:C3661900 49 49 1.0000 condition_record_support_limited 20 49 25 not_provided 124 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCN6 condition_not_provided condition not provided MedGen:C3661900 49 49 1.0000 condition_record_support_limited 20 49 19 not_provided 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAMTA1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 49 49 1.0000 condition_record_support_limited 20 49 15 See_cases|not_provided 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AUTS2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 49 49 1.0000 condition_record_support_limited 20 49 11 not_provided 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG8 mondo_mondo_0011969_medgen_c2931002_omim_608104_orphanet_79325 ALG8 congenital disorder of glycosylation MONDO:MONDO:0011969,MedGen:C2931002,OMIM:608104,Orphanet:79325 49 49 1.0000 condition_architecture_interpretable 20 0 35 ALG8_congenital_disorder_of_glycosylation 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZFYVE26 mondo_mondo_0012990_medgen_c2675186_omim_612712 Leber congenital amaurosis 13 MONDO:MONDO:0012990,MedGen:C2675186,OMIM:612712 48 48 1.0000 condition_architecture_interpretable 20 0 22 Leber_congenital_amaurosis_13 454 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TWNK condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 48 48 1.0000 condition_record_support_limited 20 48 18 See_cases|not_provided 82 compact_adjacent_exon_block_opportunity local_compact_architecture SZT2 mondo_mondo_0014201_medgen_c3809624_omim_615476_orphanet_369894 Developmental and epileptic encephalopathy, 18 MONDO:MONDO:0014201,MedGen:C3809624,OMIM:615476,Orphanet:369894 48 48 1.0000 condition_architecture_interpretable 20 0 22 Developmental_and_epileptic_encephalopathy,_18 188 large_gene_or_donor_burden_stress_case donor_burden_stress SLC9A6 mondo_mondo_0010278_medgen_c2678194_omim_300243_orphanet_85278 Christianson syndrome MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243,Orphanet:85278 48 48 1.0000 condition_architecture_interpretable 20 0 9 Christianson_syndrome 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERAC1 mondo_mondo_0013875_medgen_c4040739_omim_614739_orphanet_352328 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:MONDO:0013875,MedGen:C4040739,OMIM:614739,Orphanet:352328 48 48 1.0000 condition_architecture_interpretable 20 0 11 3-methylglutaconic_aciduria_with_deafness,_encephalopathy,_and_Leigh-like_syndrome 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNASEH2B mondo_mondo_0012429_medgen_c3489724_omim_610181_orphanet_51 Aicardi-Goutieres syndrome 2 MONDO:MONDO:0012429,MedGen:C3489724,OMIM:610181,Orphanet:51 48 48 1.0000 condition_architecture_interpretable 20 0 11 Aicardi-Goutieres_syndrome_2 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0012209_mondo_mondo_0011908_medgen_c0349639_omim_607785_orphanet_86834 Juvenile myelomonocytic leukemia Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834 48 48 1.0000 condition_architecture_interpretable 20 0 48 Juvenile_myelomonocytic_leukemia 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROM1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 48 48 1.0000 condition_architecture_interpretable 20 0 31 Retinal_dystrophy 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAR1A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 48 48 1.0000 condition_record_support_limited 20 48 26 not_provided 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP3 mondo_mondo_0008833_medgen_c3715199_omim_208540 Renal-hepatic-pancreatic dysplasia 1 MONDO:MONDO:0008833,MedGen:C3715199,OMIM:208540 48 48 1.0000 condition_architecture_interpretable 20 0 45 Renal-hepatic-pancreatic_dysplasia_1 161 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFV1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 48 48 1.0000 condition_record_support_limited 20 48 18 not_provided|not_specified 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL2RG condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 48 48 1.0000 condition_record_support_limited 20 48 28 See_cases|not_provided|not_specified 165 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT80 mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 Jeune thoracic dystrophy MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 48 48 1.0000 condition_architecture_interpretable 20 0 8 Jeune_thoracic_dystrophy 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GFAP condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 48 48 1.0000 condition_record_support_limited 20 48 35 not_provided 74 compact_adjacent_exon_block_opportunity local_compact_architecture FREM2 mondo_mondo_0054738_medgen_c4540036_omim_617666 Fraser syndrome 2 MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666 48 48 1.0000 condition_architecture_interpretable 20 0 30 Fraser_syndrome_2 129 compact_adjacent_exon_block_opportunity local_compact_architecture EBP mondo_mondo_0020603_medgen_c0282102_omim_302960_orphanet_35173 Chondrodysplasia punctata 2 X-linked dominant MONDO:MONDO:0020603,MedGen:C0282102,OMIM:302960,Orphanet:35173 48 48 1.0000 condition_architecture_interpretable 20 0 11 Chondrodysplasia_punctata_2_X-linked_dominant 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIPK1A human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Diamond-Blackfan anemia Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 48 48 1.0000 condition_architecture_interpretable 20 0 10 Diamond-Blackfan_anemia 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 48 48 1.0000 condition_record_support_limited 20 48 23 not_provided 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A5 mondo_mondo_0018965_medgen_c1567741_omim_ps301050_orphanet_63 Alport syndrome MONDO:MONDO:0018965,MedGen:C1567741,OMIM:PS301050,Orphanet:63 48 48 1.0000 condition_architecture_interpretable 20 0 25 Alport_syndrome 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 mondo_mondo_0032814_medgen_c5231411_omim_618564_orphanet_477749 Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MONDO:MONDO:0032814,MedGen:C5231411,OMIM:618564,Orphanet:477749 48 48 1.0000 condition_architecture_interpretable 20 0 46 Microangiopathy_and_leukoencephalopathy,_pontine,_autosomal_dominant 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL17A1 mondo_mondo_0030750_medgen_c2608084_omim_619787 Epidermolysis bullosa, junctional 4, intermediate MONDO:MONDO:0030750,MedGen:C2608084,OMIM:619787 48 48 1.0000 condition_architecture_interpretable 20 0 33 Epidermolysis_bullosa,_junctional_4,_intermediate 180 large_gene_or_donor_burden_stress_case donor_burden_stress CLRN1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 48 48 1.0000 condition_record_support_limited 20 48 32 not_provided|not_specified 97 compact_adjacent_exon_block_opportunity local_compact_architecture CAMTA1 mondo_mondo_0013886_medgen_c3553661_omim_614756_orphanet_314647 Cerebellar dysfunction with variable cognitive and behavioral abnormalities MONDO:MONDO:0013886,MedGen:C3553661,OMIM:614756,Orphanet:314647 48 48 1.0000 condition_architecture_interpretable 20 0 13 Cerebellar_dysfunction_with_variable_cognitive_and_behavioral_abnormalities 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C5 condition_not_provided condition not provided MedGen:C3661900 48 48 1.0000 condition_record_support_limited 20 48 5 not_provided 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 mondo_mondo_0700270_medgen_cn377759 ATM-related cancer predisposition MONDO:MONDO:0700270,MedGen:CN377759 48 48 1.0000 condition_architecture_interpretable 20 0 44 ATM-related_cancer_predisposition 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF mondo_mondo_0015280_medgen_c1275081_omim_ps115150_orphanet_1340 Cardio-facio-cutaneous syndrome MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340 48 48 1.0000 condition_architecture_interpretable 20 0 44 Cardio-facio-cutaneous_syndrome 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCKDHB condition_not_provided condition not provided MedGen:C3661900 48 48 1.0000 condition_record_support_limited 20 48 34 not_provided 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOB condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 48 48 1.0000 condition_record_support_limited 20 48 29 not_provided|not_specified 248 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALOXE3 mondo_mondo_0011680_medgen_c3539888_omim_606545 Autosomal recessive congenital ichthyosis 3 MONDO:MONDO:0011680,MedGen:C3539888,OMIM:606545 48 48 1.0000 condition_architecture_interpretable 20 0 10 Autosomal_recessive_congenital_ichthyosis_3 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB20 mondo_mondo_0009798_medgen_c0796121_omim_259050_orphanet_3042 Primrose syndrome MONDO:MONDO:0009798,MedGen:C0796121,OMIM:259050,Orphanet:3042 47 47 1.0000 condition_architecture_interpretable 20 0 15 Primrose_syndrome 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB18 mondo_mondo_0012869_medgen_cn029689_omim_612337 Intellectual disability, autosomal dominant 22 MONDO:MONDO:0012869,MedGen:CN029689,OMIM:612337 47 47 1.0000 condition_architecture_interpretable 20 0 17 Intellectual_disability,_autosomal_dominant_22 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TYR mondo_mondo_0018910_medgen_c0078918_omim_ps203100_orphanet_55 Oculocutaneous albinism MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55 47 47 1.0000 condition_architecture_interpretable 20 0 41 Oculocutaneous_albinism 311 compact_adjacent_exon_block_opportunity local_compact_architecture TTC21B mondo_mondo_0013442_medgen_c3151186_omim_613820_orphanet_655 Nephronophthisis 12 MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820,Orphanet:655 47 47 1.0000 condition_architecture_interpretable 20 0 38 Nephronophthisis_12 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF12 mondo_mondo_0014128_medgen_c3715051_omim_615314_orphanet_35098_orphanet_35099_orphanet_672979 TCF12-related craniosynostosis MONDO:MONDO:0014128,MedGen:C3715051,OMIM:615314,Orphanet:35098,Orphanet:35099,Orphanet:672979 47 47 1.0000 condition_architecture_interpretable 20 0 19 TCF12-related_craniosynostosis 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ST3GAL5 mondo_mondo_0018274_medgen_c1836824_omim_609056_orphanet_171714_orphanet_370933 GM3 synthase deficiency MONDO:MONDO:0018274,MedGen:C1836824,OMIM:609056,Orphanet:171714,Orphanet:370933 47 47 1.0000 condition_architecture_interpretable 20 0 8 GM3_synthase_deficiency 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPAST mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 47 47 1.0000 condition_architecture_interpretable 20 0 27 Hereditary_spastic_paraplegia 615 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC4A11 mondo_mondo_0009019_medgen_c1857569_omim_217700_orphanet_293603 Congenital hereditary endothelial dystrophy of cornea MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orphanet:293603 47 47 1.0000 condition_architecture_interpretable 20 0 40 Congenital_hereditary_endothelial_dystrophy_of_cornea 179 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC19A2 condition_not_provided condition not provided MedGen:C3661900 47 47 1.0000 condition_record_support_limited 20 47 15 not_provided 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHA mondo_mondo_0013339_medgen_c3150898_omim_613642_orphanet_154 Dilated cardiomyopathy 1GG MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154 47 47 1.0000 condition_architecture_interpretable 20 0 42 Dilated_cardiomyopathy_1GG 320 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SCLT1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 47 47 1.0000 condition_record_support_limited 20 47 4 not_provided|not_specified 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RSPH4A human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 47 47 1.0000 condition_architecture_interpretable 20 0 14 Primary_ciliary_dyskinesia 57 compact_adjacent_exon_block_opportunity local_compact_architecture RPS6KA3 mondo_mondo_0010447_medgen_c0796225_omim_300844_orphanet_777 Intellectual disability, X-linked 19 MONDO:MONDO:0010447,MedGen:C0796225,OMIM:300844,Orphanet:777 47 47 1.0000 condition_architecture_interpretable 20 0 38 Intellectual_disability,_X-linked_19 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ROGDI mondo_mondo_0009185_medgen_c0406740_omim_226750_orphanet_1946 Amelocerebrohypohidrotic syndrome MONDO:MONDO:0009185,MedGen:C0406740,OMIM:226750,Orphanet:1946 47 47 1.0000 condition_architecture_interpretable 20 0 4 Amelocerebrohypohidrotic_syndrome 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET mondo_mondo_0008234_mesh_d018813_medgen_c0025268_omim_171400_orphanet_247698_orphanet_653 Multiple endocrine neoplasia type 2A MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400,Orphanet:247698,Orphanet:653 47 47 1.0000 condition_architecture_interpretable 20 0 43 Multiple_endocrine_neoplasia_type_2A 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 47 47 1.0000 condition_record_support_limited 20 47 18 not_provided|not_specified 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKLR mondo_mondo_0009950_medgen_c0340968_omim_266200_orphanet_766 Pyruvate kinase deficiency of red cells MONDO:MONDO:0009950,MedGen:C0340968,OMIM:266200,Orphanet:766 47 47 1.0000 condition_architecture_interpretable 20 0 24 Pyruvate_kinase_deficiency_of_red_cells 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PALB2 mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 47 47 1.0000 condition_architecture_interpretable 20 0 44 Malignant_tumor_of_breast 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control OCRL condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 47 47 1.0000 condition_record_support_limited 20 47 19 not_provided 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP1 mondo_mondo_0009728_medgen_c1855681_omim_256100_orphanet_655_orphanet_93592 Nephronophthisis 1 MONDO:MONDO:0009728,MedGen:C1855681,OMIM:256100,Orphanet:655,Orphanet:93592 47 47 1.0000 condition_architecture_interpretable 20 0 40 Nephronophthisis_1 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NBAS mondo_mondo_0013889_medgen_c3541319_omim_614800_orphanet_391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome MONDO:MONDO:0013889,MedGen:C3541319,OMIM:614800,Orphanet:391677 47 47 1.0000 condition_architecture_interpretable 20 0 45 Short_stature-optic_atrophy-Pelger-Huët_anomaly_syndrome 245 large_gene_or_donor_burden_stress_case donor_burden_stress MPV17 mondo_mondo_0009747_medgen_c1850406_omim_256810_orphanet_255229 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MONDO:MONDO:0009747,MedGen:C1850406,OMIM:256810,Orphanet:255229 47 47 1.0000 condition_architecture_interpretable 20 0 34 Mitochondrial_DNA_depletion_syndrome_6_(hepatocerebral_type) 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMNA efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 47 47 1.0000 condition_architecture_interpretable 20 0 47 Primary_dilated_cardiomyopathy 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA mondo_mondo_0021569_medgen_c0410190_omim_181350_orphanet_261_orphanet_264 Emery-Dreifuss muscular dystrophy 2, autosomal dominant MONDO:MONDO:0021569,MedGen:C0410190,OMIM:181350,Orphanet:261,Orphanet:264 47 47 1.0000 condition_architecture_interpretable 20 0 42 Emery-Dreifuss_muscular_dystrophy_2,_autosomal_dominant 536 compact_adjacent_exon_block_opportunity local_compact_architecture KRAS condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 47 47 1.0000 condition_record_support_limited 20 47 34 not_provided|not_specified 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIZ condition_not_provided condition not provided MedGen:C3661900 47 47 1.0000 condition_record_support_limited 20 47 11 not_provided 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM6A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 47 47 1.0000 condition_record_support_limited 20 47 16 not_provided 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ2 mondo_mondo_0012314_medgen_c1865018_omim_609622_orphanet_51083 Short QT syndrome type 3 MONDO:MONDO:0012314,MedGen:C1865018,OMIM:609622,Orphanet:51083 47 47 1.0000 condition_architecture_interpretable 20 0 46 Short_QT_syndrome_type_3 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEXA condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 47 47 1.0000 condition_record_support_limited 20 47 46 .|not_provided|not_specified 331 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJC2 mondo_mondo_0012125_medgen_c1837355_omim_608804_orphanet_280270_orphanet_280282 Hypomyelinating leukodystrophy 2 MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804,Orphanet:280270,Orphanet:280282 47 47 1.0000 condition_architecture_interpretable 20 0 13 Hypomyelinating_leukodystrophy_2 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA8 mondo_mondo_0007285_medgen_c1861828_omim_116200_orphanet_1377 Cataract 1 multiple types MONDO:MONDO:0007285,MedGen:C1861828,OMIM:116200,Orphanet:1377 47 47 1.0000 condition_architecture_interpretable 20 0 12 Cataract_1_multiple_types 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA1 mondo_mondo_0100089_medgen_c1845837 GATA binding protein 1 related thrombocytopenia with dyserythropoiesis MONDO:MONDO:0100089,MedGen:C1845837 47 47 1.0000 condition_architecture_interpretable 20 0 45 GATA_binding_protein_1_related_thrombocytopenia_with_dyserythropoiesis 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETFDH condition_not_provided condition not provided MedGen:C3661900 47 47 1.0000 condition_record_support_limited 20 47 42 not_provided 301 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC4 mondo_mondo_0010215_medgen_c0268140_omim_278760 Xeroderma pigmentosum, group F MONDO:MONDO:0010215,MedGen:C0268140,OMIM:278760 47 47 1.0000 condition_architecture_interpretable 20 0 43 Xeroderma_pigmentosum,_group_F 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC2I2 mondo_mondo_0014287_medgen_c3810200_omim_615633_orphanet_474_orphanet_93271 Short-rib thoracic dysplasia 11 with or without polydactyly MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271 47 47 1.0000 condition_architecture_interpretable 20 0 4 Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DES condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 47 47 1.0000 condition_record_support_limited 20 47 39 not_provided 123 compact_adjacent_exon_block_opportunity local_compact_architecture DDX3X mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 47 47 1.0000 condition_architecture_interpretable 20 0 24 Inborn_genetic_diseases 366 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP24A1 mondo_mondo_0020739_medgen_cn031131_omim_143880_orphanet_300547 Hypercalcemia, infantile, 1 MONDO:MONDO:0020739,MedGen:CN031131,OMIM:143880,Orphanet:300547 47 47 1.0000 condition_architecture_interpretable 20 0 16 Hypercalcemia,_infantile,_1 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COMP mondo_mondo_0008322_medgen_c0410538_omim_177170_orphanet_750 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome MONDO:MONDO:0008322,MedGen:C0410538,OMIM:177170,Orphanet:750 47 47 1.0000 condition_architecture_interpretable 20 0 20 Pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL1A1 mondo_mondo_0007244_medgen_c0020497_omim_114000_orphanet_1310 Infantile cortical hyperostosis MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000,Orphanet:1310 47 47 1.0000 condition_architecture_interpretable 20 0 39 Infantile_cortical_hyperostosis 1430 large_gene_or_donor_burden_stress_case donor_burden_stress CDK13 mondo_mondo_0044302_medgen_c4479246_omim_617360_orphanet_646278 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MONDO:MONDO:0044302,MedGen:C4479246,OMIM:617360,Orphanet:646278 47 47 1.0000 condition_architecture_interpretable 20 0 17 Congenital_heart_defects,_dysmorphic_facial_features,_and_intellectual_developmental_disorder 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNA1B condition_not_provided condition not provided .|MedGen:C3661900 47 47 1.0000 condition_record_support_limited 20 47 2 See_cases|not_provided 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BRAF mondo_mondo_0007265_medgen_cn029449_omim_115150_orphanet_1340 Cardiofaciocutaneous syndrome 1 MONDO:MONDO:0007265,MedGen:CN029449,OMIM:115150,Orphanet:1340 47 47 1.0000 condition_architecture_interpretable 20 0 38 Cardiofaciocutaneous_syndrome_1 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB4 mondo_mondo_0013995_medgen_c3554241_omim_614972_orphanet_69665 Cholestasis, intrahepatic, of pregnancy, 3 MONDO:MONDO:0013995,MedGen:C3554241,OMIM:614972,Orphanet:69665 47 47 1.0000 condition_architecture_interpretable 20 0 28 Cholestasis,_intrahepatic,_of_pregnancy,_3 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF292 mondo_mondo_0030934_medgen_c5543067_omim_619188 Intellectual developmental disorder, autosomal dominant 64 MONDO:MONDO:0030934,MedGen:C5543067,OMIM:619188 46 46 1.0000 condition_architecture_interpretable 20 0 15 Intellectual_developmental_disorder,_autosomal_dominant_64 99 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture WWOX mondo_mondo_0014533_medgen_c4015519_omim_616211_orphanet_442835 Developmental and epileptic encephalopathy, 28 MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211,Orphanet:442835 46 46 1.0000 condition_architecture_interpretable 20 0 28 Developmental_and_epileptic_encephalopathy,_28 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VPS13D condition_not_provided condition not provided MedGen:C3661900 46 46 1.0000 condition_record_support_limited 20 46 8 not_provided 76 large_gene_or_donor_burden_stress_case donor_burden_stress TTN mondo_mondo_0100493_medgen_cn315649 Autosomal recessive titinopathy MONDO:MONDO:0100493,MedGen:CN315649 46 46 1.0000 condition_architecture_interpretable 20 0 27 Autosomal_recessive_titinopathy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TJP2 mondo_mondo_0014381_medgen_c2931067_omim_615878_orphanet_480483_orphanet_79304 Cholestasis, progressive familial intrahepatic, 4 MONDO:MONDO:0014381,MedGen:C2931067,OMIM:615878,Orphanet:480483,Orphanet:79304 46 46 1.0000 condition_architecture_interpretable 20 0 15 Cholestasis,_progressive_familial_intrahepatic,_4 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCE1 mondo_mondo_0011789_medgen_c3551915_omim_607174_orphanet_263662 Familial meningioma MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174,Orphanet:263662 46 46 1.0000 condition_architecture_interpretable 20 0 12 Familial_meningioma 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 46 46 1.0000 condition_record_support_limited 20 46 32 not_provided|not_specified 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD3 mondo_mondo_0013426_medgen_c3151087_omim_613795_orphanet_284984 Aneurysm-osteoarthritis syndrome MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795,Orphanet:284984 46 46 1.0000 condition_architecture_interpretable 20 0 21 Aneurysm-osteoarthritis_syndrome 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCA condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 46 46 1.0000 condition_record_support_limited 20 46 39 not_provided 186 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN8A mondo_mondo_0013680_medgen_c3280415_omim_614306 Cognitive impairment with or without cerebellar ataxia MONDO:MONDO:0013680,MedGen:C3280415,OMIM:614306 46 46 1.0000 condition_architecture_interpretable 20 0 23 Cognitive_impairment_with_or_without_cerebellar_ataxia 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 46 46 1.0000 condition_architecture_interpretable 20 0 27 Inborn_genetic_diseases 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RAPSN mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 Congenital myasthenic syndrome MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 46 46 1.0000 condition_architecture_interpretable 20 0 32 Congenital_myasthenic_syndrome 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUF60 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 46 46 1.0000 condition_record_support_limited 20 46 20 not_provided 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRRT2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 46 46 1.0000 condition_record_support_limited 20 46 27 not_provided 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PINK1 mondo_mondo_0011613_medgen_c1853833_omim_605909_orphanet_2828 Autosomal recessive early-onset Parkinson disease 6 MONDO:MONDO:0011613,MedGen:C1853833,OMIM:605909,Orphanet:2828 46 46 1.0000 condition_architecture_interpretable 20 0 8 Autosomal_recessive_early-onset_Parkinson_disease_6 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX10 mondo_mondo_0019609_medgen_c0043459_orphanet_912 Zellweger spectrum disorders MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912 46 46 1.0000 condition_architecture_interpretable 20 0 37 Zellweger_spectrum_disorders 142 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture P3H2 condition_not_provided condition not provided MedGen:C3661900 46 46 1.0000 condition_record_support_limited 20 46 6 not_provided 53 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture NPHS2 human_phenotype_ontology_hp_0012588_mondo_mondo_0044765_medgen_c0403397 Steroid-resistant nephrotic syndrome Human_Phenotype_Ontology:HP:0012588,MONDO:MONDO:0044765,MedGen:C0403397 46 46 1.0000 condition_architecture_interpretable 20 0 37 Steroid-resistant_nephrotic_syndrome 158 compact_adjacent_exon_block_opportunity local_compact_architecture LZTR1 mondo_mondo_0014693_medgen_c4225280_omim_616564_orphanet_648 Noonan syndrome 10 MONDO:MONDO:0014693,MedGen:C4225280,OMIM:616564,Orphanet:648 46 46 1.0000 condition_architecture_interpretable 20 0 39 Noonan_syndrome_10 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP5 mondo_mondo_0009820_medgen_c0432252_omim_259770_orphanet_2788 Osteoporosis with pseudoglioma MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770,Orphanet:2788 46 46 1.0000 condition_architecture_interpretable 20 0 29 Osteoporosis_with_pseudoglioma 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMA3 mondo_mondo_0030747_medgen_c5676937_omim_619784 Epidermolysis bullosa, junctional 2B, severe MONDO:MONDO:0030747,MedGen:C5676937,OMIM:619784 46 46 1.0000 condition_architecture_interpretable 20 0 41 Epidermolysis_bullosa,_junctional_2B,_severe 266 large_gene_or_donor_burden_stress_case donor_burden_stress KCNA2 mondo_mondo_0014607_medgen_c4225350_omim_616366_orphanet_442835 Developmental and epileptic encephalopathy, 32 MONDO:MONDO:0014607,MedGen:C4225350,OMIM:616366,Orphanet:442835 46 46 1.0000 condition_architecture_interpretable 20 0 12 Developmental_and_epileptic_encephalopathy,_32 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IQCB1 human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Nephronophthisis Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 46 46 1.0000 condition_architecture_interpretable 20 0 25 Nephronophthisis 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 condition_not_provided condition not provided MedGen:C3661900 46 46 1.0000 condition_record_support_limited 20 46 37 not_provided 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT172 mondo_mondo_0023670_medgen_c4310707_omim_619471 Bardet-Biedl syndrome 20 MONDO:MONDO:0023670,MedGen:C4310707,OMIM:619471 46 46 1.0000 condition_architecture_interpretable 20 0 44 Bardet-Biedl_syndrome_20 157 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture GLRA1 mondo_mondo_0021022_medgen_c4084968_omim_ps149400_orphanet_3197 Hereditary hyperekplexia MONDO:MONDO:0021022,MedGen:C4084968,OMIM:PS149400,Orphanet:3197 46 46 1.0000 condition_architecture_interpretable 20 0 17 Hereditary_hyperekplexia 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 46 46 1.0000 condition_record_support_limited 20 46 44 not_provided|not_specified 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXO7 mondo_mondo_0009830_medgen_c1850100_omim_260300_orphanet_171695 Parkinsonian-pyramidal syndrome MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300,Orphanet:171695 46 46 1.0000 condition_architecture_interpretable 20 0 6 Parkinsonian-pyramidal_syndrome 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAT4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 46 46 1.0000 condition_record_support_limited 20 46 5 not_provided 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CYP11B1 mondo_mondo_0007080_medgen_c3838731_omim_103900_orphanet_403 Glucocorticoid-remediable aldosteronism MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403 46 46 1.0000 condition_architecture_interpretable 20 0 46 Glucocorticoid-remediable_aldosteronism 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A4 mondo_mondo_0007086_medgen_c5882663_omim_104200_orphanet_63_orphanet_88918 Autosomal dominant Alport syndrome MONDO:MONDO:0007086,MedGen:C5882663,OMIM:104200,Orphanet:63,Orphanet:88918 46 46 1.0000 condition_architecture_interpretable 20 0 29 Autosomal_dominant_Alport_syndrome 860 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 46 46 1.0000 condition_architecture_interpretable 20 0 20 Inborn_genetic_diseases 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CDKN2A condition_not_provided condition not provided MedGen:C3661900 46 46 1.0000 condition_record_support_limited 20 46 44 not_provided 168 compact_adjacent_exon_block_opportunity local_compact_architecture BCL11A mondo_mondo_0014914_medgen_c4310833_omim_617101 Dias-Logan syndrome MONDO:MONDO:0014914,MedGen:C4310833,OMIM:617101 46 46 1.0000 condition_architecture_interpretable 20 0 13 Dias-Logan_syndrome 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATRX condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 46 46 1.0000 condition_record_support_limited 20 46 18 not_provided 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B arid1b_related_bafopathy ARID1B-related BAFopathy . 46 46 1.0000 condition_architecture_interpretable 20 0 29 ARID1B-related_BAFopathy 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALOX12B condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 46 46 1.0000 condition_record_support_limited 20 46 24 See_cases|not_provided 150 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZMYND11 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 45 45 1.0000 condition_record_support_limited 20 45 17 not_provided 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VWF mondo_mondo_0024574_mesh_d014842_medgen_c0042974 von Willebrand disorder MONDO:MONDO:0024574,MeSH:D014842,MedGen:C0042974 45 45 1.0000 condition_architecture_interpretable 20 0 31 von_Willebrand_disorder 454 large_gene_or_donor_burden_stress_case donor_burden_stress UROD condition_not_provided condition not provided MedGen:C3661900 45 45 1.0000 condition_record_support_limited 20 45 15 not_provided 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TYMP mondo_mondo_0017575_medgen_c0872218_orphanet_298 Mitochondrial neurogastrointestinal encephalomyopathy MONDO:MONDO:0017575,MedGen:C0872218,Orphanet:298 45 45 1.0000 condition_architecture_interpretable 20 0 32 Mitochondrial_neurogastrointestinal_encephalomyopathy 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TULP1 mondo_mondo_0010827_medgen_c1838603_omim_600132_orphanet_791 Retinitis pigmentosa 14 MONDO:MONDO:0010827,MedGen:C1838603,OMIM:600132,Orphanet:791 45 45 1.0000 condition_architecture_interpretable 20 0 39 Retinitis_pigmentosa_14 151 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNXB condition_not_provided condition not provided .|MedGen:C3661900 45 45 1.0000 condition_record_support_limited 20 45 20 See_cases|not_provided 142 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TGFBR2 mondo_mondo_0012427_medgen_c2674574_omim_610168_orphanet_284973_orphanet_558 Loeys-Dietz syndrome 2 MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168,Orphanet:284973,Orphanet:558 45 45 1.0000 condition_architecture_interpretable 20 0 25 Loeys-Dietz_syndrome_2 130 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCTN2 mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 Meckel-Gruber syndrome MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 45 45 1.0000 condition_architecture_interpretable 20 0 45 Meckel-Gruber_syndrome 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNJ1 mondo_mondo_0014233_medgen_c3809824_omim_615530_orphanet_391411 Early-onset Parkinson disease 20 MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530,Orphanet:391411 45 45 1.0000 condition_architecture_interpretable 20 0 40 Early-onset_Parkinson_disease_20 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 45 45 1.0000 condition_architecture_interpretable 20 0 17 Inborn_genetic_diseases 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC29A3 mondo_mondo_0011273_medgen_c1864445_omim_602782_orphanet_168569 H syndrome MONDO:MONDO:0011273,MedGen:C1864445,OMIM:602782,Orphanet:168569 45 45 1.0000 condition_architecture_interpretable 20 0 12 H_syndrome 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A5 mondo_mondo_0014718_medgen_c4225257_omim_616645_orphanet_293181 Developmental and epileptic encephalopathy, 34 MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645,Orphanet:293181 45 45 1.0000 condition_architecture_interpretable 20 0 0 Developmental_and_epileptic_encephalopathy,_34 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGSH condition_not_provided condition not provided .|MedGen:C3661900 45 45 1.0000 condition_record_support_limited 20 45 40 See_cases|not_provided 210 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHC mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 45 45 1.0000 condition_architecture_interpretable 20 0 34 Hereditary_cancer-predisposing_syndrome 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLEC condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 45 45 1.0000 condition_record_support_limited 20 45 15 not_provided 154 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PIK3R1 mondo_mondo_0010026_medgen_c0878684_omim_269880_orphanet_3163 SHORT syndrome MONDO:MONDO:0010026,MedGen:C0878684,OMIM:269880,Orphanet:3163 45 45 1.0000 condition_architecture_interpretable 20 0 33 SHORT_syndrome 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHYH condition_not_provided condition not provided MedGen:C3661900 45 45 1.0000 condition_record_support_limited 20 45 18 not_provided 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHOX2B mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 45 45 1.0000 condition_architecture_interpretable 20 0 16 Hereditary_cancer-predisposing_syndrome 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX12 mondo_mondo_0009959_medgen_c3550693_omim_266510_orphanet_44_orphanet_772 Peroxisome biogenesis disorder type 3B MONDO:MONDO:0009959,MedGen:C3550693,OMIM:266510,Orphanet:44,Orphanet:772 45 45 1.0000 condition_architecture_interpretable 20 0 45 Peroxisome_biogenesis_disorder_type_3B 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX1 mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 Peroxisome biogenesis disorder MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 45 45 1.0000 condition_architecture_interpretable 20 0 39 Peroxisome_biogenesis_disorder 469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6A mondo_mondo_0013437_medgen_c3151139_omim_613810_orphanet_791 Retinitis pigmentosa 43 MONDO:MONDO:0013437,MedGen:C3151139,OMIM:613810,Orphanet:791 45 45 1.0000 condition_architecture_interpretable 20 0 29 Retinitis_pigmentosa_43 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR5A1 mondo_mondo_0020040_medgen_c2751824_orphanet_98085 46,XY disorder of sex development MONDO:MONDO:0020040,MedGen:C2751824,Orphanet:98085 45 45 1.0000 condition_architecture_interpretable 20 0 44 46,XY_disorder_of_sex_development 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NF1 human_phenotype_ontology_hp_0009736_medgen_c4024216 Tibial pseudarthrosis Human_Phenotype_Ontology:HP:0009736,MedGen:C4024216 45 45 1.0000 condition_architecture_interpretable 20 0 43 Tibial_pseudarthrosis 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MYO15A medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 45 45 1.0000 condition_architecture_interpretable 20 0 33 Rare_genetic_deafness 714 large_gene_or_donor_burden_stress_case donor_burden_stress MPV17 mondo_mondo_0032728_medgen_c5193076_omim_618400 Charcot-Marie-Tooth disease, axonal, type 2EE MONDO:MONDO:0032728,MedGen:C5193076,OMIM:618400 45 45 1.0000 condition_architecture_interpretable 20 0 38 Charcot-Marie-Tooth_disease,_axonal,_type_2EE 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPL mondo_mondo_0800452_medgen_c5882667_omim_604498_orphanet_3319 Congenital amegakaryocytic thrombocytopenia 1 MONDO:MONDO:0800452,MedGen:C5882667,OMIM:604498,Orphanet:3319 45 45 1.0000 condition_architecture_interpretable 20 0 40 Congenital_amegakaryocytic_thrombocytopenia_1 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MERTK mondo_mondo_0013469_medgen_c3151228_omim_613862_orphanet_791 Retinitis pigmentosa 38 MONDO:MONDO:0013469,MedGen:C3151228,OMIM:613862,Orphanet:791 45 45 1.0000 condition_architecture_interpretable 20 0 26 Retinitis_pigmentosa_38 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMOD3 mondo_mondo_0014513_medgen_c4015360_omim_616165 Nemaline myopathy 10 MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 45 45 1.0000 condition_architecture_interpretable 20 0 5 Nemaline_myopathy_10 47 compact_adjacent_exon_block_opportunity local_compact_architecture KCNQ1 mondo_mondo_0011857_medgen_c1837014_omim_607554 Atrial fibrillation, familial, 3 MONDO:MONDO:0011857,MedGen:C1837014,OMIM:607554 45 45 1.0000 condition_architecture_interpretable 20 0 45 Atrial_fibrillation,_familial,_3 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KANSL1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 45 45 1.0000 condition_record_support_limited 20 45 11 See_cases|not_provided 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDS condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 45 45 1.0000 condition_record_support_limited 20 45 39 not_provided 793 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GMPPB mondo_mondo_0014142_medgen_c4518000_omim_615352_orphanet_363623 Autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:MONDO:0014142,MedGen:C4518000,OMIM:615352,Orphanet:363623 45 45 1.0000 condition_architecture_interpretable 20 0 41 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2T 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA1 human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Diamond-Blackfan anemia Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 45 45 1.0000 condition_architecture_interpretable 20 0 45 Diamond-Blackfan_anemia 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 45 45 1.0000 condition_record_support_limited 20 45 37 not_provided 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXOSC3 mondo_mondo_0013853_medgen_c3553449_omim_614678_orphanet_2254 Pontocerebellar hypoplasia type 1B MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678,Orphanet:2254 45 45 1.0000 condition_architecture_interpretable 20 0 10 Pontocerebellar_hypoplasia_type_1B 50 compact_adjacent_exon_block_opportunity local_compact_architecture ERCC6L2 condition_not_provided condition not provided MedGen:C3661900 45 45 1.0000 condition_record_support_limited 20 45 5 not_provided 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC6 mondo_mondo_0010909_medgen_c3551173_omim_600630_orphanet_178338 UV-sensitive syndrome 1 MONDO:MONDO:0010909,MedGen:C3551173,OMIM:600630,Orphanet:178338 45 45 1.0000 condition_architecture_interpretable 20 0 45 UV-sensitive_syndrome_1 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC6 mondo_mondo_0014843_medgen_c4310783_omim_616946 Premature ovarian failure 11 MONDO:MONDO:0014843,MedGen:C4310783,OMIM:616946 45 45 1.0000 condition_architecture_interpretable 20 0 44 Premature_ovarian_failure_11 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1 mondo_mondo_0014598_medgen_c4225357_omim_616346_orphanet_2382 Developmental and epileptic encephalopathy, 31A MONDO:MONDO:0014598,MedGen:C4225357,OMIM:616346,Orphanet:2382 45 45 1.0000 condition_architecture_interpretable 20 0 12 Developmental_and_epileptic_encephalopathy,_31A 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAI1 mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 Kartagener syndrome MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 45 45 1.0000 condition_architecture_interpretable 20 0 34 Kartagener_syndrome 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF5 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 45 45 1.0000 condition_architecture_interpretable 20 0 6 Primary_ciliary_dyskinesia 50 compact_adjacent_exon_block_opportunity local_compact_architecture DNAAF3 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 45 45 1.0000 condition_architecture_interpretable 20 0 9 Primary_ciliary_dyskinesia 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP4F22 gene_50992_mondo_mondo_0011485_medgen_c1858133_omim_604777_orphanet_313 Autosomal recessive congenital ichthyosis 5 Gene:50992,MONDO:MONDO:0011485,MedGen:C1858133,OMIM:604777,Orphanet:313 45 45 1.0000 condition_architecture_interpretable 20 0 18 Autosomal_recessive_congenital_ichthyosis_5 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTC1 mondo_mondo_0024564_medgen_c4552029_omim_612199_orphanet_313838 Cerebroretinal microangiopathy with calcifications and cysts 1 MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199,Orphanet:313838 45 45 1.0000 condition_architecture_interpretable 20 0 32 Cerebroretinal_microangiopathy_with_calcifications_and_cysts_1 136 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSF1R condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 45 45 1.0000 condition_record_support_limited 20 45 14 not_provided 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRPPA mondo_mondo_0013835_medgen_c3553330_omim_614643_orphanet_899 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 MONDO:MONDO:0013835,MedGen:C3553330,OMIM:614643,Orphanet:899 45 45 1.0000 condition_architecture_interpretable 20 0 35 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_7 57 compact_adjacent_exon_block_opportunity local_compact_architecture CNGA3 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 45 45 1.0000 condition_architecture_interpretable 20 0 37 Retinal_dystrophy 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLRN1 mondo_mondo_0013610_medgen_c3280041_omim_614180_orphanet_791 Retinitis pigmentosa 61 MONDO:MONDO:0013610,MedGen:C3280041,OMIM:614180,Orphanet:791 45 45 1.0000 condition_architecture_interpretable 20 0 35 Retinitis_pigmentosa_61 97 compact_adjacent_exon_block_opportunity local_compact_architecture CLN8 mondo_mondo_0010830_medgen_c1838570_omim_600143_orphanet_168491_orphanet_228354_orphanet_79264 Neuronal ceroid lipofuscinosis 8 MONDO:MONDO:0010830,MedGen:C1838570,OMIM:600143,Orphanet:168491,Orphanet:228354,Orphanet:79264 45 45 1.0000 condition_architecture_interpretable 20 0 24 Neuronal_ceroid_lipofuscinosis_8 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFH condition_not_provided condition not provided MedGen:C3661900 45 45 1.0000 condition_record_support_limited 20 45 23 not_provided 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C9 condition_not_provided condition not provided MedGen:C3661900 45 45 1.0000 condition_record_support_limited 20 45 12 not_provided 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRIP1 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 45 45 1.0000 condition_architecture_interpretable 20 0 41 Ovarian_cancer 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ARX mondo_mondo_0010268_medgen_c1846171_omim_300215_orphanet_452 X-linked lissencephaly with abnormal genitalia MONDO:MONDO:0010268,MedGen:C1846171,OMIM:300215,Orphanet:452 45 45 1.0000 condition_architecture_interpretable 20 0 15 X-linked_lissencephaly_with_abnormal_genitalia 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4B1 mondo_mondo_0013551_medgen_c3279738_omim_614066_orphanet_280763 Hereditary spastic paraplegia 47 MONDO:MONDO:0013551,MedGen:C3279738,OMIM:614066,Orphanet:280763 45 45 1.0000 condition_architecture_interpretable 20 0 21 Hereditary_spastic_paraplegia_47 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA1 condition_not_provided condition not provided MedGen:C3661900 45 45 1.0000 condition_record_support_limited 20 45 9 not_provided 76 large_gene_or_donor_burden_stress_case donor_burden_stress ZMYM2 mondo_mondo_0859190_medgen_c5561984_omim_619522 Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities MONDO:MONDO:0859190,MedGen:C5561984,OMIM:619522 44 44 1.0000 condition_architecture_interpretable 20 0 13 Neurodevelopmental-craniofacial_syndrome_with_variable_renal_and_cardiac_abnormalities 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSHR mondo_mondo_0010142_medgen_c3493776_omim_275200_orphanet_90673 Hypothyroidism due to TSH receptor mutations MONDO:MONDO:0010142,MedGen:C3493776,OMIM:275200,Orphanet:90673 44 44 1.0000 condition_architecture_interpretable 20 0 23 Hypothyroidism_due_to_TSH_receptor_mutations 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM231 mondo_mondo_0014164_medgen_c3809352_omim_615397_orphanet_564 Meckel syndrome, type 11 MONDO:MONDO:0014164,MedGen:C3809352,OMIM:615397,Orphanet:564 44 44 1.0000 condition_architecture_interpretable 20 0 42 Meckel_syndrome,_type_11 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TJP2 condition_not_provided condition not provided MedGen:C3661900 44 44 1.0000 condition_record_support_limited 20 44 13 not_provided 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNJ1 mondo_mondo_0033362_medgen_c4479313_omim_617389 Developmental and epileptic encephalopathy, 53 MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 44 44 1.0000 condition_architecture_interpretable 20 0 42 Developmental_and_epileptic_encephalopathy,_53 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SURF1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 44 44 1.0000 condition_record_support_limited 20 44 33 See_cases|not_provided|not_specified 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SURF1 mondo_mondo_0014733_medgen_c4225246_omim_616684_orphanet_391351 Charcot-Marie-Tooth disease type 4K MONDO:MONDO:0014733,MedGen:C4225246,OMIM:616684,Orphanet:391351 44 44 1.0000 condition_architecture_interpretable 20 0 44 Charcot-Marie-Tooth_disease_type_4K 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 44 44 1.0000 condition_record_support_limited 20 44 34 not_provided|not_specified 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOS1 mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 44 44 1.0000 condition_architecture_interpretable 20 0 33 RASopathy 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 44 44 1.0000 condition_record_support_limited 20 44 20 not_provided|not_specified 321 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC35A2 mondo_mondo_0010478_medgen_c3806688_omim_300896_orphanet_356961 SLC35A2-congenital disorder of glycosylation MONDO:MONDO:0010478,MedGen:C3806688,OMIM:300896,Orphanet:356961 44 44 1.0000 condition_architecture_interpretable 20 0 5 SLC35A2-congenital_disorder_of_glycosylation 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 mondo_mondo_0032873_medgen_c5231465_omim_618697 Retinitis pigmentosa 87 with choroidal involvement MONDO:MONDO:0032873,MedGen:C5231465,OMIM:618697 44 44 1.0000 condition_architecture_interpretable 20 0 44 Retinitis_pigmentosa_87_with_choroidal_involvement 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RORB condition_not_provided condition not provided MedGen:C3661900 44 44 1.0000 condition_record_support_limited 20 44 4 not_provided 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RERE mondo_mondo_0014857_medgen_c5567477_omim_616975_orphanet_494344 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart MONDO:MONDO:0014857,MedGen:C5567477,OMIM:616975,Orphanet:494344 44 44 1.0000 condition_architecture_interpretable 20 0 14 Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RDH5 condition_not_provided condition not provided .|MedGen:C3661900 44 44 1.0000 condition_record_support_limited 20 44 20 See_cases|not_provided 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROC condition_not_provided condition not provided MedGen:C3661900 44 44 1.0000 condition_record_support_limited 20 44 28 not_provided 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKCG mondo_mondo_0011540_medgen_c1854369_omim_605361_orphanet_98763 Spinocerebellar ataxia type 14 MONDO:MONDO:0011540,MedGen:C1854369,OMIM:605361,Orphanet:98763 44 44 1.0000 condition_architecture_interpretable 20 0 15 Spinocerebellar_ataxia_type_14 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPOX condition_not_provided condition not provided .|MedGen:C3661900 44 44 1.0000 condition_record_support_limited 20 44 8 See_cases|not_provided 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMGNT1 mondo_mondo_0014929_medgen_c4310704_omim_617123 Retinitis pigmentosa 76 MONDO:MONDO:0014929,MedGen:C4310704,OMIM:617123 44 44 1.0000 condition_architecture_interpretable 20 0 41 Retinitis_pigmentosa_76 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPT1 condition_not_provided condition not provided MedGen:C3661900 44 44 1.0000 condition_record_support_limited 20 44 13 not_provided 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLA2G6 mondo_mondo_0013060_medgen_c2751842_omim_612953_orphanet_199351 Autosomal recessive Parkinson disease 14 MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953,Orphanet:199351 44 44 1.0000 condition_architecture_interpretable 20 0 42 Autosomal_recessive_Parkinson_disease_14 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX26 mondo_mondo_0013939_medgen_c3553951_omim_614873_orphanet_44 Peroxisome biogenesis disorder 7B MONDO:MONDO:0013939,MedGen:C3553951,OMIM:614873,Orphanet:44 44 44 1.0000 condition_architecture_interpretable 20 0 44 Peroxisome_biogenesis_disorder_7B 63 compact_adjacent_exon_block_opportunity local_compact_architecture OBSL1 mondo_mondo_0013039_medgen_c2752041_omim_612921_orphanet_2616 3M syndrome 2 MONDO:MONDO:0013039,MedGen:C2752041,OMIM:612921,Orphanet:2616 44 44 1.0000 condition_architecture_interpretable 20 0 11 3M_syndrome_2 73 compact_adjacent_exon_block_opportunity local_compact_architecture NR5A1 mondo_mondo_0009776_medgen_c0403810_omim_258150 Oligosynaptic infertility MONDO:MONDO:0009776,MedGen:C0403810,OMIM:258150 44 44 1.0000 condition_architecture_interpretable 20 0 44 Oligosynaptic_infertility 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO5B mondo_mondo_0009635_medgen_c0341306_omim_251850_orphanet_2290 Congenital microvillous atrophy MONDO:MONDO:0009635,MedGen:C0341306,OMIM:251850,Orphanet:2290 44 44 1.0000 condition_architecture_interpretable 20 0 15 Congenital_microvillous_atrophy 104 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MEGF10 mondo_mondo_0013731_medgen_c3280679_omim_614399_orphanet_439212 MEGF10-related myopathy MONDO:MONDO:0013731,MedGen:C3280679,OMIM:614399,Orphanet:439212 44 44 1.0000 condition_architecture_interpretable 20 0 6 MEGF10-related_myopathy 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRRC56 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 44 44 1.0000 condition_record_support_limited 20 44 24 not_provided 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture IRAK1BP1 mondo_mondo_0035133_medgen_c4693860_omim_617991_orphanet_589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome MONDO:MONDO:0035133,MedGen:C4693860,OMIM:617991,Orphanet:589905 44 44 1.0000 condition_architecture_interpretable 20 0 12 PHIP-related_behavioral_problems-intellectual_disability-obesity-dysmorphic_features_syndrome 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT74 condition_not_provided condition not provided MedGen:C3661900 44 44 1.0000 condition_record_support_limited 20 44 11 not_provided 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HUWE1 mondo_mondo_0010407_medgen_c2678046_omim_309590_orphanet_3056_orphanet_85328 Intellectual disability, X-linked syndromic, Turner type MONDO:MONDO:0010407,MedGen:C2678046,OMIM:309590,Orphanet:3056,Orphanet:85328 44 44 1.0000 condition_architecture_interpretable 20 0 13 Intellectual_disability,_X-linked_syndromic,_Turner_type 75 large_gene_or_donor_burden_stress_case donor_burden_stress HBB mondo_mondo_0044348_medgen_c0019045 Hemoglobinopathy MONDO:MONDO:0044348,MedGen:C0019045 44 44 1.0000 condition_architecture_interpretable 20 0 36 Hemoglobinopathy 428 compact_adjacent_exon_block_opportunity local_compact_architecture GREB1L mondo_mondo_0024520_medgen_c4540497_omim_617805 Renal hypodysplasia/aplasia 3 MONDO:MONDO:0024520,MedGen:C4540497,OMIM:617805 44 44 1.0000 condition_architecture_interpretable 20 0 6 Renal_hypodysplasia/aplasia_3 86 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture GNPTAB condition_not_provided condition not provided MedGen:C3661900 44 44 1.0000 condition_record_support_limited 20 44 40 not_provided 436 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA1 mondo_mondo_0009266_medgen_c0268250_omim_230900_orphanet_77260 Gaucher disease type II MONDO:MONDO:0009266,MedGen:C0268250,OMIM:230900,Orphanet:77260 44 44 1.0000 condition_architecture_interpretable 20 0 42 Gaucher_disease_type_II 360 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATAD1 mondo_mondo_0011101_medgen_c0282527_omim_601539_orphanet_44 Peroxisome biogenesis disorder 1B MONDO:MONDO:0011101,MedGen:C0282527,OMIM:601539,Orphanet:44 44 44 1.0000 condition_architecture_interpretable 20 0 44 Peroxisome_biogenesis_disorder_1B 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLVCR1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 44 44 1.0000 condition_record_support_limited 20 44 12 See_cases|not_provided 59 compact_adjacent_exon_block_opportunity local_compact_architecture FKBP10 condition_not_provided condition not provided MedGen:C3661900 44 44 1.0000 condition_record_support_limited 20 44 20 not_provided 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 44 44 1.0000 condition_record_support_limited 20 44 36 See_cases|not_provided|not_specified 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC6 mondo_mondo_0013409_medgen_c3151063_omim_613761 Age related macular degeneration 5 MONDO:MONDO:0013409,MedGen:C3151063,OMIM:613761 44 44 1.0000 condition_architecture_interpretable 20 0 44 Age_related_macular_degeneration_5 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC4 mondo_mondo_0014108_medgen_c3808988_omim_615272_orphanet_84 Fanconi anemia complementation group Q MONDO:MONDO:0014108,MedGen:C3808988,OMIM:615272,Orphanet:84 44 44 1.0000 condition_architecture_interpretable 20 0 42 Fanconi_anemia_complementation_group_Q 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSG2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 44 44 1.0000 condition_record_support_limited 20 44 21 not_provided|not_specified 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIAPH1 mondo_mondo_0014714_medgen_c5567650_omim_616632_orphanet_477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:MONDO:0014714,MedGen:C5567650,OMIM:616632,Orphanet:477814 44 44 1.0000 condition_architecture_interpretable 20 0 41 Progressive_microcephaly-seizures-cortical_blindness-developmental_delay_syndrome 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP4V2 mondo_mondo_0008865_medgen_c1859486_omim_210370_orphanet_41751 Bietti crystalline corneoretinal dystrophy MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370,Orphanet:41751 44 44 1.0000 condition_architecture_interpretable 20 0 24 Bietti_crystalline_corneoretinal_dystrophy 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP19A1 mondo_mondo_0013301_medgen_c1960539_omim_613546_orphanet_91 Aromatase deficiency MONDO:MONDO:0013301,MedGen:C1960539,OMIM:613546,Orphanet:91 44 44 1.0000 condition_architecture_interpretable 20 0 18 Aromatase_deficiency 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSD mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 Neuronal ceroid lipofuscinosis MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 44 44 1.0000 condition_architecture_interpretable 20 0 2 Neuronal_ceroid_lipofuscinosis 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2A1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 44 44 1.0000 condition_record_support_limited 20 44 21 See_cases|not_provided 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL2A1 mondo_mondo_0007987_medgen_c0265279_omim_156550_orphanet_485 Kniest dysplasia MONDO:MONDO:0007987,MedGen:C0265279,OMIM:156550,Orphanet:485 44 44 1.0000 condition_architecture_interpretable 20 0 30 Kniest_dysplasia 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 mondo_mondo_0007525_medgen_c4551623_omim_130060_orphanet_1899_orphanet_99875_orphanet_99876 Ehlers-Danlos syndrome, arthrochalasia type MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060,Orphanet:1899,Orphanet:99875,Orphanet:99876 44 44 1.0000 condition_architecture_interpretable 20 0 42 Ehlers-Danlos_syndrome,_arthrochalasia_type 1430 large_gene_or_donor_burden_stress_case donor_burden_stress CLDN16 mondo_mondo_0009550_medgen_c0268448_omim_248250_orphanet_31043 Primary hypomagnesemia MONDO:MONDO:0009550,MedGen:C0268448,OMIM:248250,Orphanet:31043 44 44 1.0000 condition_architecture_interpretable 20 0 11 Primary_hypomagnesemia 56 compact_adjacent_exon_block_opportunity local_compact_architecture BLM condition_not_provided condition not provided MedGen:C3661900 44 44 1.0000 condition_record_support_limited 20 44 40 not_provided 583 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BEST1 mondo_mondo_0012733_medgen_c3888198_omim_611809_orphanet_139455 Autosomal recessive bestrophinopathy MONDO:MONDO:0012733,MedGen:C3888198,OMIM:611809,Orphanet:139455 44 44 1.0000 condition_architecture_interpretable 20 0 32 Autosomal_recessive_bestrophinopathy 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V0A2 mondo_mondo_0012117_medgen_c2931006_omim_608776_orphanet_79328 ALG9 congenital disorder of glycosylation MONDO:MONDO:0012117,MedGen:C2931006,OMIM:608776,Orphanet:79328 44 44 1.0000 condition_architecture_interpretable 20 0 14 ALG9_congenital_disorder_of_glycosylation 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGXT mondo_mondo_0002474_medgen_c0020501_omim_ps259900_orphanet_416 Primary hyperoxaluria MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416 44 44 1.0000 condition_architecture_interpretable 20 0 41 Primary_hyperoxaluria 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGK mondo_mondo_0008922_medgen_c1859317_omim_212350_orphanet_1369 Sengers syndrome MONDO:MONDO:0008922,MedGen:C1859317,OMIM:212350,Orphanet:1369 44 44 1.0000 condition_architecture_interpretable 20 0 27 Sengers_syndrome 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCG8 condition_not_provided condition not provided MedGen:C3661900 44 44 1.0000 condition_record_support_limited 20 44 16 not_provided 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCG5 mondo_mondo_0008863_medgen_c0342907_omim_ps210250_orphanet_2882 Sitosterolemia MONDO:MONDO:0008863,MedGen:C0342907,OMIM:PS210250,Orphanet:2882 44 44 1.0000 condition_architecture_interpretable 20 0 14 Sitosterolemia 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA12 mondo_mondo_0011026_medgen_c1832550_omim_601277_orphanet_313 Autosomal recessive congenital ichthyosis 4A MONDO:MONDO:0011026,MedGen:C1832550,OMIM:601277,Orphanet:313 44 44 1.0000 condition_architecture_interpretable 20 0 36 Autosomal_recessive_congenital_ichthyosis_4A 206 large_gene_or_donor_burden_stress_case donor_burden_stress WNT10A mondo_mondo_0009145_medgen_c1857069_omim_224750_orphanet_50944 Schöpf-Schulz-Passarge syndrome MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750,Orphanet:50944 43 43 1.0000 condition_architecture_interpretable 20 0 34 Schöpf-Schulz-Passarge_syndrome 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR19 mondo_mondo_0030809_medgen_c5676980_omim_619867 Spermatogenic failure 72 MONDO:MONDO:0030809,MedGen:C5676980,OMIM:619867 43 43 1.0000 condition_architecture_interpretable 20 0 42 Spermatogenic_failure_72 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A9 condition_not_provided condition not provided MedGen:C3661900 43 43 1.0000 condition_record_support_limited 20 43 30 not_provided 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A8 condition_not_provided condition not provided MedGen:C3661900 43 43 1.0000 condition_record_support_limited 20 43 30 not_provided 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A7 condition_not_provided condition not provided MedGen:C3661900 43 43 1.0000 condition_record_support_limited 20 43 30 not_provided 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A6 condition_not_provided condition not provided MedGen:C3661900 43 43 1.0000 condition_record_support_limited 20 43 30 not_provided 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A5 condition_not_provided condition not provided MedGen:C3661900 43 43 1.0000 condition_record_support_limited 20 43 30 not_provided 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A4 condition_not_provided condition not provided MedGen:C3661900 43 43 1.0000 condition_record_support_limited 20 43 30 not_provided 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A3 condition_not_provided condition not provided MedGen:C3661900 43 43 1.0000 condition_record_support_limited 20 43 30 not_provided 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A10 condition_not_provided condition not provided MedGen:C3661900 43 43 1.0000 condition_record_support_limited 20 43 30 not_provided 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A1 condition_not_provided condition not provided MedGen:C3661900 43 43 1.0000 condition_record_support_limited 20 43 30 not_provided 80 compact_adjacent_exon_block_opportunity local_compact_architecture TYK2 mondo_mondo_0012682_medgen_c1969086_omim_611521_orphanet_331226 Immunodeficiency 35 MONDO:MONDO:0012682,MedGen:C1969086,OMIM:611521,Orphanet:331226 43 43 1.0000 condition_architecture_interpretable 20 0 3 Immunodeficiency_35 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TULP1 mondo_mondo_0013457_medgen_c3151206_omim_613843_orphanet_65 Leber congenital amaurosis 15 MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843,Orphanet:65 43 43 1.0000 condition_architecture_interpretable 20 0 34 Leber_congenital_amaurosis_15 151 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLX4 mondo_mondo_0013499_medgen_c3469542_omim_613951_orphanet_84 Fanconi anemia complementation group P MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84 43 43 1.0000 condition_architecture_interpretable 20 0 20 Fanconi_anemia_complementation_group_P 153 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SLC6A8 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 43 43 1.0000 condition_record_support_limited 20 43 25 not_provided|not_specified 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC20A2 mondo_mondo_0024538_medgen_c4551624_omim_213600_orphanet_1980 Idiopathic basal ganglia calcification 1 MONDO:MONDO:0024538,MedGen:C4551624,OMIM:213600,Orphanet:1980 43 43 1.0000 condition_architecture_interpretable 20 0 17 Idiopathic_basal_ganglia_calcification_1 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SALL4 mondo_mondo_0011812_medgen_c1623209_omim_607323_orphanet_93293_orphanet_959 Duane-radial ray syndrome MONDO:MONDO:0011812,MedGen:C1623209,OMIM:607323,Orphanet:93293,Orphanet:959 43 43 1.0000 condition_architecture_interpretable 20 0 7 Duane-radial_ray_syndrome 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RYR1 human_phenotype_ontology_hp_0034733_mondo_mondo_0018493_medgen_c0024591_orphanet_423 Malignant hyperthermia of anesthesia Human_Phenotype_Ontology:HP:0034733,MONDO:MONDO:0018493,MedGen:C0024591,Orphanet:423 43 43 1.0000 condition_architecture_interpretable 20 0 40 Malignant_hyperthermia_of_anesthesia 770 large_gene_or_donor_burden_stress_case donor_burden_stress RFX5 mondo_mondo_0008855_medgen_c5447452_omim_ps209920_orphanet_572 MHC class II deficiency MONDO:MONDO:0008855,MedGen:C5447452,OMIM:PS209920,Orphanet:572 43 43 1.0000 condition_architecture_interpretable 20 0 7 MHC_class_II_deficiency 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLCE1 mondo_mondo_0012546_medgen_c1853124_omim_610725_orphanet_656 Nephrotic syndrome, type 3 MONDO:MONDO:0012546,MedGen:C1853124,OMIM:610725,Orphanet:656 43 43 1.0000 condition_architecture_interpretable 20 0 8 Nephrotic_syndrome,_type_3 63 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PEX10 mondo_mondo_0013937_medgen_c3553948_omim_614871_orphanet_44 Peroxisome biogenesis disorder 6B MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871,Orphanet:44 43 43 1.0000 condition_architecture_interpretable 20 0 42 Peroxisome_biogenesis_disorder_6B 142 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PALB2 palb2_related_disorder PALB2-related disorder . 43 43 1.0000 condition_architecture_interpretable 20 0 42 PALB2-related_disorder 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NR2F1-AS1 mondo_mondo_0014320_medgen_c3810363_omim_615722_orphanet_401777 Bosch-Boonstra-Schaaf optic atrophy syndrome MONDO:MONDO:0014320,MedGen:C3810363,OMIM:615722,Orphanet:401777 43 43 1.0000 condition_architecture_interpretable 20 0 5 Bosch-Boonstra-Schaaf_optic_atrophy_syndrome 79 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture MUTYH human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 43 43 1.0000 condition_architecture_interpretable 20 0 35 Gastric_cancer 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MPL mondo_mondo_0011173_medgen_c3275998_omim_601977 Thrombocythemia 2 MONDO:MONDO:0011173,MedGen:C3275998,OMIM:601977 43 43 1.0000 condition_architecture_interpretable 20 0 43 Thrombocythemia_2 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LPIN2 mondo_mondo_0012316_medgen_c1864997_omim_609628_orphanet_77297 Majeed syndrome MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297 43 43 1.0000 condition_architecture_interpretable 20 0 5 Majeed_syndrome 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMA3 mondo_mondo_0009513_medgen_c1328355_omim_245660_orphanet_2407 Laryngo-onycho-cutaneous syndrome MONDO:MONDO:0009513,MedGen:C1328355,OMIM:245660,Orphanet:2407 43 43 1.0000 condition_architecture_interpretable 20 0 38 Laryngo-onycho-cutaneous_syndrome 266 large_gene_or_donor_burden_stress_case donor_burden_stress KLHL40 mondo_mondo_0014138_medgen_c3809209_omim_615348_orphanet_171430 Nemaline myopathy 8 MONDO:MONDO:0014138,MedGen:C3809209,OMIM:615348,Orphanet:171430 43 43 1.0000 condition_architecture_interpretable 20 0 3 Nemaline_myopathy_8 44 compact_adjacent_exon_block_opportunity local_compact_architecture KDM5B condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 43 43 1.0000 condition_record_support_limited 20 43 11 See_cases|not_provided 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNT1 mondo_mondo_0014002_medgen_c3554306_omim_615005_orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy 5 MONDO:MONDO:0014002,MedGen:C3554306,OMIM:615005,Orphanet:98784 43 43 1.0000 condition_architecture_interpretable 20 0 41 Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGB4 mondo_mondo_0030768_medgen_c5676956_omim_619816 Epidermolysis bullosa, junctional 5A, intermediate MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816 43 43 1.0000 condition_architecture_interpretable 20 0 40 Epidermolysis_bullosa,_junctional_5A,_intermediate 160 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ITGB3 mondo_mondo_0031009_medgen_c5543273_omim_619267 Glanzmann thrombasthenia 2 MONDO:MONDO:0031009,MedGen:C5543273,OMIM:619267 43 43 1.0000 condition_architecture_interpretable 20 0 36 Glanzmann_thrombasthenia_2 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IKBKG condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 43 43 1.0000 condition_record_support_limited 20 43 16 not_provided 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPHN mondo_mondo_0014212_medgen_c1854990_omim_615501_orphanet_308400_orphanet_833 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C MONDO:MONDO:0014212,MedGen:C1854990,OMIM:615501,Orphanet:308400,Orphanet:833 43 43 1.0000 condition_architecture_interpretable 20 0 2 Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_C 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP3 mondo_mondo_0010580_medgen_c0342288_omim_304790_orphanet_37042 Insulin-dependent diabetes mellitus secretory diarrhea syndrome MONDO:MONDO:0010580,MedGen:C0342288,OMIM:304790,Orphanet:37042 43 43 1.0000 condition_architecture_interpretable 20 0 8 Insulin-dependent_diabetes_mellitus_secretory_diarrhea_syndrome 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKTN mondo_mondo_0012699_medgen_c1969040_omim_611588_orphanet_206554 Autosomal recessive limb-girdle muscular dystrophy type 2M MONDO:MONDO:0012699,MedGen:C1969040,OMIM:611588,Orphanet:206554 43 43 1.0000 condition_architecture_interpretable 20 0 42 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2M 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGD1 mondo_mondo_0010589_medgen_c0175701_omim_305400_orphanet_915 Aarskog syndrome MONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400,Orphanet:915 43 43 1.0000 condition_architecture_interpretable 20 0 8 Aarskog_syndrome 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL5 condition_not_provided condition not provided MedGen:C3661900 43 43 1.0000 condition_record_support_limited 20 43 28 not_provided 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBN1 fbn1_related_disorder FBN1-related disorder . 43 43 1.0000 condition_architecture_interpretable 20 0 29 FBN1-related_disorder 3554 large_gene_or_donor_burden_stress_case donor_burden_stress ERCC6 mondo_mondo_0008903_medgen_c0242379_omim_211980 Lung cancer MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 43 43 1.0000 condition_architecture_interpretable 20 0 43 Lung_cancer 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENPP1 condition_not_provided condition not provided MedGen:C3661900 43 43 1.0000 condition_record_support_limited 20 43 17 not_provided 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX11 mondo_mondo_0013252_medgen_c3150658_omim_613398_orphanet_280558 Warsaw breakage syndrome MONDO:MONDO:0013252,MedGen:C3150658,OMIM:613398,Orphanet:280558 43 43 1.0000 condition_architecture_interpretable 20 0 9 Warsaw_breakage_syndrome 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DARS2 condition_not_provided condition not provided .|MedGen:C3661900 43 43 1.0000 condition_record_support_limited 20 43 29 See_cases|not_provided 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 43 43 1.0000 condition_record_support_limited 20 43 7 See_cases|not_provided 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN5 mondo_mondo_0010644_medgen_c1839874_omim_308990_orphanet_1652_orphanet_93622 Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis MONDO:MONDO:0010644,MedGen:C1839874,OMIM:308990,Orphanet:1652,Orphanet:93622 43 43 1.0000 condition_architecture_interpretable 20 0 39 Proteinuria,_low_molecular_weight,_with_hypercalciuria_and_nephrocalcinosis 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFH mondo_mondo_0007472_medgen_c0730295_omim_126700_orphanet_75376 Basal laminar drusen MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376 43 43 1.0000 condition_architecture_interpretable 20 0 41 Basal_laminar_drusen 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDK5RAP2 mondo_mondo_0011488_medgen_c1858108_omim_604804_orphanet_2512 Microcephaly 3, primary, autosomal recessive MONDO:MONDO:0011488,MedGen:C1858108,OMIM:604804,Orphanet:2512 43 43 1.0000 condition_architecture_interpretable 20 0 9 Microcephaly_3,_primary,_autosomal_recessive 78 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CCM2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 43 43 1.0000 condition_record_support_limited 20 43 21 not_provided 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASR mondo_mondo_0009397_medgen_c1832615_omim_239200_orphanet_417 Neonatal severe primary hyperparathyroidism MONDO:MONDO:0009397,MedGen:C1832615,OMIM:239200,Orphanet:417 43 43 1.0000 condition_architecture_interpretable 20 0 38 Neonatal_severe_primary_hyperparathyroidism 313 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNA1A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 43 43 1.0000 condition_architecture_interpretable 20 0 28 Inborn_genetic_diseases 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture C17ORF107 mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 Congenital myasthenic syndrome MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 43 43 1.0000 condition_architecture_interpretable 20 0 31 Congenital_myasthenic_syndrome 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMPR2 medgen_c5679820_orphanet_422 Idiopathic and/or familial pulmonary arterial hypertension MedGen:C5679820,Orphanet:422 43 43 1.0000 condition_architecture_interpretable 20 0 43 Idiopathic_and/or_familial_pulmonary_arterial_hypertension 502 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARID1A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 43 43 1.0000 condition_record_support_limited 20 43 13 not_provided 141 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AQP2 human_phenotype_ontology_hp_0009806_mondo_mondo_0016383_medgen_c0162283_orphanet_223 Nephrogenic diabetes insipidus Human_Phenotype_Ontology:HP:0009806,MONDO:MONDO:0016383,MedGen:C0162283,Orphanet:223 43 43 1.0000 condition_architecture_interpretable 20 0 30 Nephrogenic_diabetes_insipidus 75 compact_adjacent_exon_block_opportunity local_compact_architecture APC medgen_c1851124_omim_135290_orphanet_873 Desmoid disease, hereditary MedGen:C1851124,OMIM:135290,Orphanet:873 43 43 1.0000 condition_architecture_interpretable 20 0 41 Desmoid_disease,_hereditary 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control VPS33B mondo_mondo_0008822_medgen_c1859722_omim_208085_orphanet_2697 Arthrogryposis, renal dysfunction, and cholestasis 1 MONDO:MONDO:0008822,MedGen:C1859722,OMIM:208085,Orphanet:2697 42 42 1.0000 condition_architecture_interpretable 20 0 26 Arthrogryposis,_renal_dysfunction,_and_cholestasis_1 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIP12 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 42 42 1.0000 condition_record_support_limited 20 42 11 See_cases|not_provided 98 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRIM32 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 42 42 1.0000 condition_architecture_interpretable 20 0 10 Bardet-Biedl_syndrome 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM231 mondo_mondo_0013994_medgen_c3554235_omim_614970_orphanet_475 Joubert syndrome 20 MONDO:MONDO:0013994,MedGen:C3554235,OMIM:614970,Orphanet:475 42 42 1.0000 condition_architecture_interpretable 20 0 41 Joubert_syndrome_20 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture THAP1 mondo_mondo_0011264_medgen_c1414216_omim_602629_orphanet_98806 Torsion dystonia 6 MONDO:MONDO:0011264,MedGen:C1414216,OMIM:602629,Orphanet:98806 42 42 1.0000 condition_architecture_interpretable 20 0 11 Torsion_dystonia_6 46 compact_adjacent_exon_block_opportunity local_compact_architecture TAOK1 mondo_mondo_0859199_medgen_c5562004_omim_619575 Developmental delay with or without intellectual impairment or behavioral abnormalities MONDO:MONDO:0859199,MedGen:C5562004,OMIM:619575 42 42 1.0000 condition_architecture_interpretable 20 0 7 Developmental_delay_with_or_without_intellectual_impairment_or_behavioral_abnormalities 72 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPEN condition_not_provided condition not provided MedGen:C3661900 42 42 1.0000 condition_record_support_limited 20 42 14 not_provided 101 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SP110 mondo_mondo_0009338_medgen_c1856128_omim_235550_orphanet_79124 Hepatic veno-occlusive disease-immunodeficiency syndrome MONDO:MONDO:0009338,MedGen:C1856128,OMIM:235550,Orphanet:79124 42 42 1.0000 condition_architecture_interpretable 20 0 9 Hepatic_veno-occlusive_disease-immunodeficiency_syndrome 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC5A1 mondo_mondo_0011731_medgen_c0268186_omim_606824_orphanet_35710 Congenital glucose-galactose malabsorption MONDO:MONDO:0011731,MedGen:C0268186,OMIM:606824,Orphanet:35710 42 42 1.0000 condition_architecture_interpretable 20 0 6 Congenital_glucose-galactose_malabsorption 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC40A1 mondo_mondo_0011631_medgen_c1853733_omim_606069_orphanet_139491 Hemochromatosis type 4 MONDO:MONDO:0011631,MedGen:C1853733,OMIM:606069,Orphanet:139491 42 42 1.0000 condition_architecture_interpretable 20 0 6 Hemochromatosis_type_4 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN4A mondo_mondo_0008195_medgen_c0221055_omim_168300_orphanet_684 Paramyotonia congenita of Von Eulenburg MONDO:MONDO:0008195,MedGen:C0221055,OMIM:168300,Orphanet:684 42 42 1.0000 condition_architecture_interpretable 20 0 39 Paramyotonia_congenita_of_Von_Eulenburg 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RLBP1 condition_not_provided condition not provided MedGen:C3661900 42 42 1.0000 condition_record_support_limited 20 42 20 not_provided 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBCK1 mondo_mondo_0014389_medgen_c4014605_omim_615895_orphanet_329173_orphanet_397937 Polyglucosan body myopathy type 1 MONDO:MONDO:0014389,MedGen:C4014605,OMIM:615895,Orphanet:329173,Orphanet:397937 42 42 1.0000 condition_architecture_interpretable 20 0 11 Polyglucosan_body_myopathy_type_1 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD51D condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 42 42 1.0000 condition_record_support_limited 20 42 38 not_provided 245 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTPN11 ptpn11_related_disorder PTPN11-related disorder . 42 42 1.0000 condition_architecture_interpretable 20 0 41 PTPN11-related_disorder 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLH condition_not_provided condition not provided .|MedGen:C3661900 42 42 1.0000 condition_record_support_limited 20 42 16 See_cases|not_provided 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLGARF mondo_mondo_0008758_medgen_c0205710_omim_203700_orphanet_726 Progressive sclerosing poliodystrophy MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726 42 42 1.0000 condition_architecture_interpretable 20 0 16 Progressive_sclerosing_poliodystrophy 61 compact_adjacent_exon_block_opportunity local_compact_architecture PIGN condition_not_provided condition not provided MedGen:C3661900 42 42 1.0000 condition_record_support_limited 20 42 33 not_provided 179 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIEZO1 mondo_mondo_0014797_medgen_c4225184_omim_616843_orphanet_568062 Lymphatic malformation 6 MONDO:MONDO:0014797,MedGen:C4225184,OMIM:616843,Orphanet:568062 42 42 1.0000 condition_architecture_interpretable 20 0 14 Lymphatic_malformation_6 120 large_gene_or_donor_burden_stress_case donor_burden_stress PCNT pcnt_related_disorder PCNT-related disorder . 42 42 1.0000 condition_architecture_interpretable 20 0 22 PCNT-related_disorder 350 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture OPTN medgen_c1842026 Glaucoma 1, open angle, E MedGen:C1842026 42 42 1.0000 condition_architecture_interpretable 20 0 41 Glaucoma_1,_open_angle,_E 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPHN1 mondo_mondo_0010337_medgen_c1845366_omim_300486_orphanet_137831 X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:MONDO:0010337,MedGen:C1845366,OMIM:300486,Orphanet:137831 42 42 1.0000 condition_architecture_interpretable 20 0 5 X-linked_intellectual_disability-cerebellar_hypoplasia_syndrome 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NSD2 mondo_mondo_0859219_medgen_c5562061_omim_619695_orphanet_659642 Rauch-Steindl syndrome MONDO:MONDO:0859219,MedGen:C5562061,OMIM:619695,Orphanet:659642 42 42 1.0000 condition_architecture_interpretable 20 0 6 Rauch-Steindl_syndrome 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NF2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 42 42 1.0000 condition_record_support_limited 20 42 28 See_cases|not_provided 285 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NBEA mondo_mondo_0030930_medgen_c5436914_omim_619157 Neurodevelopmental disorder with or without early-onset generalized epilepsy MONDO:MONDO:0030930,MedGen:C5436914,OMIM:619157 42 42 1.0000 condition_architecture_interpretable 20 0 3 Neurodevelopmental_disorder_with_or_without_early-onset_generalized_epilepsy 81 large_gene_or_donor_burden_stress_case donor_burden_stress NALCN mondo_mondo_0024567_medgen_c3809454_omim_615419_orphanet_371364_orphanet_700336 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 MONDO:MONDO:0024567,MedGen:C3809454,OMIM:615419,Orphanet:371364,Orphanet:700336 42 42 1.0000 condition_architecture_interpretable 20 0 11 Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_1 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MPL mondo_mondo_0009692_mesh_d055728_medgen_c0001815_omim_254450_orphanet_824 Primary myelofibrosis MONDO:MONDO:0009692,MeSH:D055728,MedGen:C0001815,OMIM:254450,Orphanet:824 42 42 1.0000 condition_architecture_interpretable 20 0 42 Primary_myelofibrosis 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF5A human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 42 42 1.0000 condition_architecture_interpretable 20 0 16 Spastic_paraplegia 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM5B mondo_mondo_0020850_medgen_c4748219_omim_618109 Intellectual disability, autosomal recessive 65 MONDO:MONDO:0020850,MedGen:C4748219,OMIM:618109 42 42 1.0000 condition_architecture_interpretable 20 0 9 Intellectual_disability,_autosomal_recessive_65 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 mondo_mondo_0012313_medgen_c1865019_omim_609621_orphanet_51083 Short QT syndrome type 2 MONDO:MONDO:0012313,MedGen:C1865019,OMIM:609621,Orphanet:51083 42 42 1.0000 condition_architecture_interpretable 20 0 41 Short_QT_syndrome_type_2 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNB1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 42 42 1.0000 condition_record_support_limited 20 42 20 not_provided 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT81 condition_not_provided condition not provided MedGen:C3661900 42 42 1.0000 condition_record_support_limited 20 42 4 not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF4A human_phenotype_ontology_hp_0004904_mondo_mondo_0018911_medgen_c0342276_omim_ps125850_orphanet_552 Maturity-onset diabetes of the young Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552 42 42 1.0000 condition_architecture_interpretable 20 0 38 Maturity-onset_diabetes_of_the_young 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAO1 mondo_mondo_0014199_medgen_c3809606_omim_615473_orphanet_1934 Developmental and epileptic encephalopathy, 17 MONDO:MONDO:0014199,MedGen:C3809606,OMIM:615473,Orphanet:1934 42 42 1.0000 condition_architecture_interpretable 20 0 26 Developmental_and_epileptic_encephalopathy,_17 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALNS mondo_mondo_0018938_medgen_c0026707_orphanet_582 Morquio syndrome MONDO:MONDO:0018938,MedGen:C0026707,Orphanet:582 42 42 1.0000 condition_architecture_interpretable 20 0 41 Morquio_syndrome 299 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FRMD7 condition_not_provided condition not provided MedGen:C3661900 42 42 1.0000 condition_record_support_limited 20 42 9 not_provided 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0004439_mondo_mondo_0007405_mesh_d003394_medgen_c0010273_omim_123500_orphanet_207 Crouzon syndrome Human_Phenotype_Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500,Orphanet:207 42 42 1.0000 condition_architecture_interpretable 20 0 36 Crouzon_syndrome 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXO11 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 42 42 1.0000 condition_record_support_limited 20 42 14 See_cases|not_provided 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPHB4 mondo_mondo_0020785_medgen_c4748670_omim_618196_orphanet_693912 Capillary malformation-arteriovenous malformation 2 MONDO:MONDO:0020785,MedGen:C4748670,OMIM:618196,Orphanet:693912 42 42 1.0000 condition_architecture_interpretable 20 0 16 Capillary_malformation-arteriovenous_malformation_2 135 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF1 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 42 42 1.0000 condition_architecture_interpretable 20 0 10 Primary_ciliary_dyskinesia 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLL3 condition_not_provided condition not provided MedGen:C3661900 42 42 1.0000 condition_record_support_limited 20 42 14 not_provided 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIAPH1 mondo_mondo_0007424_medgen_c1852282_omim_124900_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 1 MONDO:MONDO:0007424,MedGen:C1852282,OMIM:124900,Orphanet:90635 42 42 1.0000 condition_architecture_interpretable 20 0 40 Autosomal_dominant_nonsyndromic_hearing_loss_1 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DBT mondo_mondo_0023693_medgen_c1855371_omim_620699 Maple syrup urine disease type 2 MONDO:MONDO:0023693,MedGen:C1855371,OMIM:620699 42 42 1.0000 condition_architecture_interpretable 20 0 24 Maple_syrup_urine_disease_type_2 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL3 condition_not_provided condition not provided MedGen:C3661900 42 42 1.0000 condition_record_support_limited 20 42 13 not_provided 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A3 mondo_mondo_0957317_medgen_c0241908_omim_ps141200 Benign familial hematuria MONDO:MONDO:0957317,MedGen:C0241908,OMIM:PS141200 42 42 1.0000 condition_architecture_interpretable 20 0 40 Benign_familial_hematuria 855 large_gene_or_donor_burden_stress_case donor_burden_stress CHD4 mondo_mondo_0014946_medgen_c4310688_omim_617159_orphanet_653712 Sifrim-Hitz-Weiss syndrome MONDO:MONDO:0014946,MedGen:C4310688,OMIM:617159,Orphanet:653712 42 42 1.0000 condition_architecture_interpretable 20 0 8 Sifrim-Hitz-Weiss_syndrome 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1C condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 42 42 1.0000 condition_record_support_limited 20 42 20 not_provided 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATP8B1 mondo_mondo_0008892_medgen_c4551898_omim_211600_orphanet_79306 Progressive familial intrahepatic cholestasis type 1 MONDO:MONDO:0008892,MedGen:C4551898,OMIM:211600,Orphanet:79306 42 42 1.0000 condition_architecture_interpretable 20 0 26 Progressive_familial_intrahepatic_cholestasis_type_1 131 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 mondo_mondo_0013900_medgen_c3553788_omim_614820_orphanet_2131 Alternating hemiplegia of childhood 2 MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131 42 42 1.0000 condition_architecture_interpretable 20 0 28 Alternating_hemiplegia_of_childhood_2 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASTN2 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 42 42 1.0000 condition_architecture_interpretable 20 0 10 Bardet-Biedl_syndrome 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4M1 mondo_mondo_0013048_medgen_c2752008_omim_612936_orphanet_280763 Hereditary spastic paraplegia 50 MONDO:MONDO:0013048,MedGen:C2752008,OMIM:612936,Orphanet:280763 42 42 1.0000 condition_architecture_interpretable 20 0 14 Hereditary_spastic_paraplegia_50 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACADSB human_phenotype_ontology_hp_0020147_mondo_mondo_0012392_medgen_c1864912_omim_610006_orphanet_79157 Deficiency of 2-methylbutyryl-CoA dehydrogenase Human_Phenotype_Ontology:HP:0020147,MONDO:MONDO:0012392,MedGen:C1864912,OMIM:610006,Orphanet:79157 42 42 1.0000 condition_architecture_interpretable 20 0 10 Deficiency_of_2-methylbutyryl-CoA_dehydrogenase 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBGCP4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 41 41 1.0000 condition_record_support_limited 20 41 6 not_provided 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB8 mondo_mondo_0021573_medgen_c4225210_omim_616780 Oocyte maturation defect 2 MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780 41 41 1.0000 condition_architecture_interpretable 20 0 1 Oocyte_maturation_defect_2 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC21B mondo_mondo_0013441_medgen_c3151185_omim_613819_orphanet_474 Asphyxiating thoracic dystrophy 4 MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819,Orphanet:474 41 41 1.0000 condition_architecture_interpretable 20 0 38 Asphyxiating_thoracic_dystrophy_4 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBL1XR1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 41 41 1.0000 condition_record_support_limited 20 41 14 See_cases|not_provided 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBL1XR1 mondo_mondo_0011213_medgen_c1865644_omim_602342_orphanet_487825 Pierpont syndrome MONDO:MONDO:0011213,MedGen:C1865644,OMIM:602342,Orphanet:487825 41 41 1.0000 condition_architecture_interpretable 20 0 18 Pierpont_syndrome 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPINK5 condition_not_provided condition not provided MedGen:C3661900 41 41 1.0000 condition_record_support_limited 20 41 31 not_provided 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOS1 mondo_mondo_0012547_medgen_c1853120_omim_610733_orphanet_648 Noonan syndrome 4 MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733,Orphanet:648 41 41 1.0000 condition_architecture_interpretable 20 0 32 Noonan_syndrome_4 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A1 mondo_mondo_0012805_medgen_c1842534_omim_612126_orphanet_98811 Childhood onset GLUT1 deficiency syndrome 2 MONDO:MONDO:0012805,MedGen:C1842534,OMIM:612126,Orphanet:98811 41 41 1.0000 condition_architecture_interpretable 20 0 27 Childhood_onset_GLUT1_deficiency_syndrome_2 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETX mondo_mondo_0011223_medgen_c1865409_omim_602433_orphanet_357043 Amyotrophic lateral sclerosis type 4 MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043 41 41 1.0000 condition_architecture_interpretable 20 0 35 Amyotrophic_lateral_sclerosis_type_4 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RPGRIP1L condition_not_provided condition not provided MedGen:C3661900 41 41 1.0000 condition_record_support_limited 20 41 35 not_provided 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNASEH2A mondo_mondo_0012472_medgen_c1835912_omim_610333_orphanet_51 Aicardi-Goutieres syndrome 4 MONDO:MONDO:0012472,MedGen:C1835912,OMIM:610333,Orphanet:51 41 41 1.0000 condition_architecture_interpretable 20 0 8 Aicardi-Goutieres_syndrome_4 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPO mondo_mondo_0012407_medgen_c1864723_omim_610090_orphanet_79096 Pyridoxal phosphate-responsive seizures MONDO:MONDO:0012407,MedGen:C1864723,OMIM:610090,Orphanet:79096 41 41 1.0000 condition_architecture_interpretable 20 0 13 Pyridoxal_phosphate-responsive_seizures 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLA2G6 mondo_mondo_0017998_medgen_cn204472_orphanet_329303 PLA2G6-associated neurodegeneration MONDO:MONDO:0017998,MedGen:CN204472,Orphanet:329303 41 41 1.0000 condition_architecture_interpretable 20 0 37 PLA2G6-associated_neurodegeneration 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHKA1 mondo_mondo_0010362_medgen_c1845151_omim_300559_orphanet_715 Glycogen storage disease IXd MONDO:MONDO:0010362,MedGen:C1845151,OMIM:300559,Orphanet:715 41 41 1.0000 condition_architecture_interpretable 20 0 10 Glycogen_storage_disease_IXd 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX7 mondo_mondo_0015776_medgen_c0282529_omim_ps215100_orphanet_177 Rhizomelic chondrodysplasia punctata MONDO:MONDO:0015776,MedGen:C0282529,OMIM:PS215100,Orphanet:177 41 41 1.0000 condition_architecture_interpretable 20 0 29 Rhizomelic_chondrodysplasia_punctata 142 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPTN mondo_mondo_0100553_medgen_c0339573_omim_137760 Primary open angle glaucoma MONDO:MONDO:0100553,MedGen:C0339573,OMIM:137760 41 41 1.0000 condition_architecture_interpretable 20 0 41 Primary_open_angle_glaucoma 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYH7 mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 Primary familial hypertrophic cardiomyopathy MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 41 41 1.0000 condition_architecture_interpretable 20 0 40 Primary_familial_hypertrophic_cardiomyopathy 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MOCS2 condition_not_provided condition not provided MedGen:C3661900 41 41 1.0000 condition_record_support_limited 20 41 16 not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MLH1 mondo_mondo_0010159_medgen_c5399763_omim_276300_orphanet_252202 Mismatch repair cancer syndrome 1 MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:252202 41 41 1.0000 condition_architecture_interpretable 20 0 41 Mismatch_repair_cancer_syndrome_1 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MAN1B1 mondo_mondo_0013624_medgen_c3280127_omim_614202_orphanet_88616 Rafiq syndrome MONDO:MONDO:0013624,MedGen:C3280127,OMIM:614202,Orphanet:88616 41 41 1.0000 condition_architecture_interpretable 20 0 6 Rafiq_syndrome 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LIFR mondo_mondo_0800043_medgen_c5676888_omim_601559_orphanet_3206 Stüve-Wiedemann syndrome 1 MONDO:MONDO:0800043,MedGen:C5676888,OMIM:601559,Orphanet:3206 41 41 1.0000 condition_architecture_interpretable 20 0 22 Stüve-Wiedemann_syndrome_1 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LDLR ldlr_related_disorder LDLR-related disorder . 41 41 1.0000 condition_architecture_interpretable 20 0 40 LDLR-related_disorder 1933 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMC2 mondo_mondo_0030749_medgen_c5676939_omim_619786 Epidermolysis bullosa, junctional 3B, severe MONDO:MONDO:0030749,MedGen:C5676939,OMIM:619786 41 41 1.0000 condition_architecture_interpretable 20 0 37 Epidermolysis_bullosa,_junctional_3B,_severe 223 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture L2HGDH human_phenotype_ontology_hp_0040144_mondo_mondo_0009370_medgen_c1855995_omim_236792_orphanet_79314 L-2-hydroxyglutaric aciduria Human_Phenotype_Ontology:HP:0040144,MONDO:MONDO:0009370,MedGen:C1855995,OMIM:236792,Orphanet:79314 41 41 1.0000 condition_architecture_interpretable 20 0 10 L-2-hydroxyglutaric_aciduria 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ11 condition_not_provided condition not provided MedGen:C3661900 41 41 1.0000 condition_record_support_limited 20 41 21 not_provided 72 single_exon_hotspot_opportunity local_compact_architecture KCNJ1 condition_not_provided condition not provided MedGen:C3661900 41 41 1.0000 condition_record_support_limited 20 41 21 not_provided 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSD17B3 condition_not_provided condition not provided MedGen:C3661900 41 41 1.0000 condition_record_support_limited 20 41 23 not_provided 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPS6 mondo_mondo_0013558_medgen_c3888007_omim_614075_orphanet_231512_orphanet_79430 Hermansky-Pudlak syndrome 6 MONDO:MONDO:0013558,MedGen:C3888007,OMIM:614075,Orphanet:231512,Orphanet:79430 41 41 1.0000 condition_architecture_interpretable 20 0 23 Hermansky-Pudlak_syndrome_6 99 single_exon_hotspot_opportunity local_compact_architecture HBB medgen_c3841475 BETA-PLUS-THALASSEMIA MedGen:C3841475 41 41 1.0000 condition_architecture_interpretable 20 0 38 BETA-PLUS-THALASSEMIA 428 compact_adjacent_exon_block_opportunity local_compact_architecture GNAO1 mondo_mondo_0800491_medgen_c0393706_orphanet_1934 Early-infantile DEE MONDO:MONDO:0800491,MedGen:C0393706,Orphanet:1934 41 41 1.0000 condition_architecture_interpretable 20 0 22 Early-infantile_DEE 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GMPPB mondo_mondo_0014140_medgen_c3809216_omim_615350_orphanet_588 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350,Orphanet:588 41 41 1.0000 condition_architecture_interpretable 20 0 39 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A14 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDAP1 mondo_mondo_0011916_medgen_c1842983_omim_607831_orphanet_101097_orphanet_99944 Charcot-Marie-Tooth disease axonal type 2K MONDO:MONDO:0011916,MedGen:C1842983,OMIM:607831,Orphanet:101097,Orphanet:99944 41 41 1.0000 condition_architecture_interpretable 20 0 35 Charcot-Marie-Tooth_disease_axonal_type_2K 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA1 mondo_mondo_0009267_medgen_c0268251_omim_231000_orphanet_355_orphanet_77261 Gaucher disease type III MONDO:MONDO:0009267,MedGen:C0268251,OMIM:231000,Orphanet:355,Orphanet:77261 41 41 1.0000 condition_architecture_interpretable 20 0 41 Gaucher_disease_type_III 360 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GANAB mondo_mondo_0010916_medgen_c3887964_omim_600666 Polycystic kidney disease 3 with or without polycystic liver disease MONDO:MONDO:0010916,MedGen:C3887964,OMIM:600666 41 41 1.0000 condition_architecture_interpretable 20 0 10 Polycystic_kidney_disease_3_with_or_without_polycystic_liver_disease 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLG mondo_mondo_0011596_medgen_c1853965_omim_605803 Dermatitis, atopic, 2 MONDO:MONDO:0011596,MedGen:C1853965,OMIM:605803 41 41 1.0000 condition_architecture_interpretable 20 0 35 Dermatitis,_atopic,_2 246 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ECHS1 condition_not_provided condition not provided MedGen:C3661900 41 41 1.0000 condition_record_support_limited 20 41 21 not_provided 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ECHS1 mondo_mondo_0014563_medgen_c4225391_omim_616277_orphanet_255241_orphanet_653880 Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency MONDO:MONDO:0014563,MedGen:C4225391,OMIM:616277,Orphanet:255241,Orphanet:653880 41 41 1.0000 condition_architecture_interpretable 20 0 21 Mitochondrial_short-chain_Enoyl-Coa_hydratase_1_deficiency 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSP mondo_mondo_0014355_medgen_c4014393_omim_615821_orphanet_476096_orphanet_65282 Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282 41 41 1.0000 condition_architecture_interpretable 20 0 32 Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DNAH11 condition_not_provided condition not provided MedGen:C3661900 41 41 1.0000 condition_record_support_limited 20 41 31 not_provided 574 large_gene_or_donor_burden_stress_case donor_burden_stress DCX mondo_mondo_0010239_medgen_c4551968_omim_300067_orphanet_2148 Lissencephaly type 1 due to doublecortin gene mutation MONDO:MONDO:0010239,MedGen:C4551968,OMIM:300067,Orphanet:2148 41 41 1.0000 condition_architecture_interpretable 20 0 24 Lissencephaly_type_1_due_to_doublecortin_gene_mutation 165 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCLRE1C medgen_c1865371 Athabaskan severe combined immunodeficiency MedGen:C1865371 41 41 1.0000 condition_architecture_interpretable 20 0 20 Athabaskan_severe_combined_immunodeficiency 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP27A1 condition_not_provided condition not provided MedGen:C3661900 41 41 1.0000 condition_record_support_limited 20 41 39 not_provided 214 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSF3R mondo_mondo_0014865_medgen_c4310764_omim_617014_orphanet_420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency MONDO:MONDO:0014865,MedGen:C4310764,OMIM:617014,Orphanet:420702 41 41 1.0000 condition_architecture_interpretable 20 0 8 Autosomal_recessive_severe_congenital_neutropenia_due_to_CSF3R_deficiency 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL2A1 mondo_mondo_0012287_medgen_c1836080_omim_609508 Stickler syndrome, type I, nonsyndromic ocular MONDO:MONDO:0012287,MedGen:C1836080,OMIM:609508 41 41 1.0000 condition_architecture_interpretable 20 0 32 Stickler_syndrome,_type_I,_nonsyndromic_ocular 1101 large_gene_or_donor_burden_stress_case donor_burden_stress CHRNG mondo_mondo_0009668_medgen_c1854678_omim_253290_orphanet_33108 Lethal multiple pterygium syndrome MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108 41 41 1.0000 condition_architecture_interpretable 20 0 39 Lethal_multiple_pterygium_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHD7 chd7_related_disorder CHD7-related disorder . 41 41 1.0000 condition_architecture_interpretable 20 0 21 CHD7-related_disorder 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CEP83 mondo_mondo_0014374_medgen_c3890591_omim_615862_orphanet_655 Nephronophthisis 18 MONDO:MONDO:0014374,MedGen:C3890591,OMIM:615862,Orphanet:655 41 41 1.0000 condition_architecture_interpretable 20 0 4 Nephronophthisis_18 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDK5RAP2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 41 41 1.0000 condition_record_support_limited 20 41 9 not_provided|not_specified 78 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CDK13 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 41 41 1.0000 condition_record_support_limited 20 41 17 not_provided 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH3 condition_not_provided condition not provided MedGen:C3661900 41 41 1.0000 condition_record_support_limited 20 41 11 not_provided 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD46 mondo_mondo_0016244_medgen_c2931788_orphanet_2134 Atypical hemolytic-uremic syndrome MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134 41 41 1.0000 condition_architecture_interpretable 20 0 14 Atypical_hemolytic-uremic_syndrome 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2C1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 41 41 1.0000 condition_record_support_limited 20 41 3 not_provided 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARMC9 condition_not_provided condition not provided MedGen:C3661900 41 41 1.0000 condition_record_support_limited 20 41 8 not_provided 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AQP2 mondo_mondo_0007451_medgen_c1563706_omim_125800_orphanet_223 Diabetes insipidus, nephrogenic, autosomal MONDO:MONDO:0007451,MedGen:C1563706,OMIM:125800,Orphanet:223 41 41 1.0000 condition_architecture_interpretable 20 0 28 Diabetes_insipidus,_nephrogenic,_autosomal 75 compact_adjacent_exon_block_opportunity local_compact_architecture USP9X mondo_mondo_0010502_medgen_c4225416_omim_300968 Intellectual disability, X-linked 99, syndromic, female-restricted MONDO:MONDO:0010502,MedGen:C4225416,OMIM:300968 40 40 1.0000 condition_architecture_interpretable 20 0 6 Intellectual_disability,_X-linked_99,_syndromic,_female-restricted 128 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TSPAN1 mondo_mondo_0014929_medgen_c4310704_omim_617123 Retinitis pigmentosa 76 MONDO:MONDO:0014929,MedGen:C4310704,OMIM:617123 40 40 1.0000 condition_architecture_interpretable 20 0 37 Retinitis_pigmentosa_76 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPP1 mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 Neuronal ceroid lipofuscinosis MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 40 40 1.0000 condition_architecture_interpretable 20 0 37 Neuronal_ceroid_lipofuscinosis 221 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNRC6B mondo_mondo_0030995_medgen_c5543226_omim_619243 Global developmental delay with speech and behavioral abnormalities MONDO:MONDO:0030995,MedGen:C5543226,OMIM:619243 40 40 1.0000 condition_architecture_interpretable 20 0 8 Global_developmental_delay_with_speech_and_behavioral_abnormalities 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TNNT2 mondo_mondo_0007266_medgen_c1861864_omim_115195 Hypertrophic cardiomyopathy 2 MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195 40 40 1.0000 condition_architecture_interpretable 20 0 37 Hypertrophic_cardiomyopathy_2 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNT2 mondo_mondo_0011095_medgen_c1832243_omim_601494_orphanet_154_orphanet_54260 Dilated cardiomyopathy 1D MONDO:MONDO:0011095,MedGen:C1832243,OMIM:601494,Orphanet:154,Orphanet:54260 40 40 1.0000 condition_architecture_interpretable 20 0 37 Dilated_cardiomyopathy_1D 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture THRB condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 40 40 1.0000 condition_record_support_limited 20 40 29 not_provided|not_specified 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAB2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 40 40 1.0000 condition_record_support_limited 20 40 9 not_provided 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAB2 mondo_mondo_0014000_medgen_c3554279_omim_614980 Congenital heart defects, multiple types, 2 MONDO:MONDO:0014000,MedGen:C3554279,OMIM:614980 40 40 1.0000 condition_architecture_interpretable 20 0 8 Congenital_heart_defects,_multiple_types,_2 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 mondo_mondo_0020071_medgen_cn276928 Infantile epilepsy syndrome MONDO:MONDO:0020071,MedGen:CN276928 40 40 1.0000 condition_architecture_interpretable 20 0 35 Infantile_epilepsy_syndrome 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAT3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 40 40 1.0000 condition_record_support_limited 20 40 21 not_provided 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX10 mondo_mondo_0012698_medgen_c2700405_omim_611584_orphanet_3440 Waardenburg syndrome type 2E MONDO:MONDO:0012698,MedGen:C2700405,OMIM:611584,Orphanet:3440 40 40 1.0000 condition_architecture_interpretable 20 0 14 Waardenburg_syndrome_type_2E 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SH3TC2 condition_not_provided condition not provided MedGen:C3661900 40 40 1.0000 condition_record_support_limited 20 40 27 not_provided 162 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHD condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 40 40 1.0000 condition_record_support_limited 20 40 33 not_provided|not_specified 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SALL1 mondo_mondo_0007142_mesh_c536974_medgen_c0265246_omim_ps107480_orphanet_857 Townes syndrome MONDO:MONDO:0007142,MeSH:C536974,MedGen:C0265246,OMIM:PS107480,Orphanet:857 40 40 1.0000 condition_architecture_interpretable 20 0 12 Townes_syndrome 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 40 40 1.0000 condition_architecture_interpretable 20 0 35 Retinal_dystrophy 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD21 mondo_mondo_0013864_medgen_c3553517_omim_614701_orphanet_199 Cornelia de Lange syndrome 4 MONDO:MONDO:0013864,MedGen:C3553517,OMIM:614701,Orphanet:199 40 40 1.0000 condition_architecture_interpretable 20 0 8 Cornelia_de_Lange_syndrome_4 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP1 mondo_mondo_0010822_medgen_c1838625_omim_600118_orphanet_2510 Warburg micro syndrome 1 MONDO:MONDO:0010822,MedGen:C1838625,OMIM:600118,Orphanet:2510 40 40 1.0000 condition_architecture_interpretable 20 0 11 Warburg_micro_syndrome_1 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUS1 condition_not_provided condition not provided MedGen:C3661900 40 40 1.0000 condition_record_support_limited 20 40 13 not_provided 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR2F mondo_mondo_0012698_medgen_c2700405_omim_611584_orphanet_3440 Waardenburg syndrome type 2E MONDO:MONDO:0012698,MedGen:C2700405,OMIM:611584,Orphanet:3440 40 40 1.0000 condition_architecture_interpretable 20 0 14 Waardenburg_syndrome_type_2E 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR1C mondo_mondo_0014666_medgen_c4225305_omim_616494_orphanet_88637 Hypomyelinating leukodystrophy 11 MONDO:MONDO:0014666,MedGen:C4225305,OMIM:616494,Orphanet:88637 40 40 1.0000 condition_architecture_interpretable 20 0 27 Hypomyelinating_leukodystrophy_11 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG medgen_c4763519 POLG-related disorder MedGen:C4763519 40 40 1.0000 condition_architecture_interpretable 20 0 35 POLG-related_disorder 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHYH mondo_mondo_0009958_medgen_c0034960_omim_266500_orphanet_773 Phytanic acid storage disease MONDO:MONDO:0009958,MedGen:C0034960,OMIM:266500,Orphanet:773 40 40 1.0000 condition_architecture_interpretable 20 0 18 Phytanic_acid_storage_disease 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PGM1 mondo_mondo_0013968_medgen_c2752015_omim_614921_orphanet_319646 PGM1-congenital disorder of glycosylation MONDO:MONDO:0013968,MedGen:C2752015,OMIM:614921,Orphanet:319646 40 40 1.0000 condition_architecture_interpretable 20 0 10 PGM1-congenital_disorder_of_glycosylation 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NT5DC1 mondo_mondo_0007983_medgen_c0265289_omim_156500_orphanet_174 Metaphyseal chondrodysplasia, Schmid type MONDO:MONDO:0007983,MedGen:C0265289,OMIM:156500,Orphanet:174 40 40 1.0000 condition_architecture_interpretable 20 0 13 Metaphyseal_chondrodysplasia,_Schmid_type 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFAF5 mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 Mitochondrial complex I deficiency MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 40 40 1.0000 condition_architecture_interpretable 20 0 32 Mitochondrial_complex_I_deficiency 117 compact_adjacent_exon_block_opportunity local_compact_architecture MYH9 mondo_mondo_0015912_medgen_c5200934_omim_155100_orphanet_182050 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MONDO:MONDO:0015912,MedGen:C5200934,OMIM:155100,Orphanet:182050 40 40 1.0000 condition_architecture_interpretable 20 0 19 Macrothrombocytopenia_and_granulocyte_inclusions_with_or_without_nephritis_or_sensorineural_hearing_loss 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MSH2 lynch_like_syndrome Lynch-like syndrome . 40 40 1.0000 condition_architecture_interpretable 20 0 26 Lynch-like_syndrome 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MME mondo_mondo_0014866_medgen_c4015635_omim_617017_orphanet_443950 Charcot-Marie-Tooth disease axonal type 2T MONDO:MONDO:0014866,MedGen:C4015635,OMIM:617017,Orphanet:443950 40 40 1.0000 condition_architecture_interpretable 20 0 21 Charcot-Marie-Tooth_disease_axonal_type_2T 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAGEL2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 40 40 1.0000 condition_record_support_limited 20 40 7 not_provided 95 single_exon_hotspot_opportunity local_compact_architecture LRP6 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 40 40 1.0000 condition_record_support_limited 20 40 5 not_provided 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KMT5B mondo_mondo_0030917_medgen_c4540474_omim_617788_orphanet_684226 Intellectual disability, autosomal dominant 51 MONDO:MONDO:0030917,MedGen:C4540474,OMIM:617788,Orphanet:684226 40 40 1.0000 condition_architecture_interpretable 20 0 6 Intellectual_disability,_autosomal_dominant_51 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INF2 mondo_mondo_0013191_medgen_c2750475_omim_613237_orphanet_656 Focal segmental glomerulosclerosis 5 MONDO:MONDO:0013191,MedGen:C2750475,OMIM:613237,Orphanet:656 40 40 1.0000 condition_architecture_interpretable 20 0 28 Focal_segmental_glomerulosclerosis_5 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GYS1 mondo_mondo_0012693_medgen_c1969054_omim_611556_orphanet_137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency MONDO:MONDO:0012693,MedGen:C1969054,OMIM:611556,Orphanet:137625 40 40 1.0000 condition_architecture_interpretable 20 0 6 Glycogen_storage_disease_due_to_muscle_and_heart_glycogen_synthase_deficiency 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPAA1 condition_not_provided condition not provided MedGen:C3661900 40 40 1.0000 condition_record_support_limited 20 40 9 not_provided 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GORAB condition_not_provided condition not provided MedGen:C3661900 40 40 1.0000 condition_record_support_limited 20 40 7 not_provided 49 compact_adjacent_exon_block_opportunity local_compact_architecture GNPAT mondo_mondo_0009112_medgen_c1857242_omim_222765_orphanet_177_orphanet_309796 Rhizomelic chondrodysplasia punctata type 2 MONDO:MONDO:0009112,MedGen:C1857242,OMIM:222765,Orphanet:177,Orphanet:309796 40 40 1.0000 condition_architecture_interpretable 20 0 10 Rhizomelic_chondrodysplasia_punctata_type_2 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI2 mondo_mondo_0014369_medgen_c4014479_omim_615849_orphanet_420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome MONDO:MONDO:0014369,MedGen:C4014479,OMIM:615849,Orphanet:420584 40 40 1.0000 condition_architecture_interpretable 20 0 24 Postaxial_polydactyly-anterior_pituitary_anomalies-facial_dysmorphism_syndrome 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD mondo_mondo_0021024_medgen_c1970028_omim_611162_orphanet_673 Malaria, susceptibility to MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673 40 40 1.0000 condition_architecture_interpretable 20 0 39 Malaria,_susceptibility_to 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKTN mondo_mondo_0013156_medgen_c2751052_omim_613152 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 MONDO:MONDO:0013156,MedGen:C2751052,OMIM:613152 40 40 1.0000 condition_architecture_interpretable 20 0 39 Muscular_dystrophy-dystroglycanopathy_(congenital_without_intellectual_disability),_type_B4 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FA2H mondo_mondo_0012866_medgen_c3496228_omim_612319_orphanet_171629 Hereditary spastic paraplegia 35 MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319,Orphanet:171629 40 40 1.0000 condition_architecture_interpretable 20 0 16 Hereditary_spastic_paraplegia_35 63 compact_adjacent_exon_block_opportunity local_compact_architecture F7 condition_not_provided condition not provided .|MedGen:C3661900 40 40 1.0000 condition_record_support_limited 20 40 27 See_cases|not_provided 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 40 40 1.0000 condition_record_support_limited 20 40 17 not_provided 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELANE condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 40 40 1.0000 condition_record_support_limited 20 40 16 not_provided|not_specified 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFNB1 mondo_mondo_0010570_medgen_c0220767_omim_304110_orphanet_1520 Craniofrontonasal syndrome MONDO:MONDO:0010570,MedGen:C0220767,OMIM:304110,Orphanet:1520 40 40 1.0000 condition_architecture_interpretable 20 0 9 Craniofrontonasal_syndrome 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBP condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 40 40 1.0000 condition_record_support_limited 20 40 13 not_provided 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF2 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 40 40 1.0000 condition_architecture_interpretable 20 0 6 Primary_ciliary_dyskinesia 50 compact_adjacent_exon_block_opportunity local_compact_architecture COL4A5 col4a5_related_disorder COL4A5-related disorder . 40 40 1.0000 condition_architecture_interpretable 20 0 23 COL4A5-related_disorder 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 mondo_mondo_0010078_medgen_c0796173_omim_271700_orphanet_1856 Spondyloperipheral dysplasia MONDO:MONDO:0010078,MedGen:C0796173,OMIM:271700,Orphanet:1856 40 40 1.0000 condition_architecture_interpretable 20 0 28 Spondyloperipheral_dysplasia 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A2 mondo_mondo_0040501_medgen_cn293783_omim_617821 Ehlers-Danlos syndrome, arthrochalasia type, 2 MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821 40 40 1.0000 condition_architecture_interpretable 20 0 34 Ehlers-Danlos_syndrome,_arthrochalasia_type,_2 722 large_gene_or_donor_burden_stress_case donor_burden_stress COL10A1 mondo_mondo_0007983_medgen_c0265289_omim_156500_orphanet_174 Metaphyseal chondrodysplasia, Schmid type MONDO:MONDO:0007983,MedGen:C0265289,OMIM:156500,Orphanet:174 40 40 1.0000 condition_architecture_interpretable 20 0 13 Metaphyseal_chondrodysplasia,_Schmid_type 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFH mondo_mondo_0009335_medgen_c2749604_omim_235400_orphanet_2134_orphanet_90038 Hemolytic uremic syndrome, atypical, susceptibility to, 1 MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038 40 40 1.0000 condition_architecture_interpretable 20 0 23 Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP135 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 40 40 1.0000 condition_record_support_limited 20 40 8 not_provided 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 mondo_mondo_0017746_medgen_c2748910_orphanet_3095 Atypical Rett syndrome MONDO:MONDO:0017746,MedGen:C2748910,Orphanet:3095 40 40 1.0000 condition_architecture_interpretable 20 0 40 Atypical_Rett_syndrome 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BAG3 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 40 40 1.0000 condition_architecture_interpretable 20 0 25 Cardiovascular_phenotype 154 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APC human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 40 40 1.0000 condition_architecture_interpretable 20 0 34 Gastric_cancer 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 40 40 1.0000 condition_architecture_interpretable 20 0 32 Colorectal_cancer 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control AMT mondo_mondo_0958179_medgen_cn376801_omim_605899 Glycine encephalopathy 1 MONDO:MONDO:0958179,MedGen:CN376801,OMIM:605899 40 40 1.0000 condition_architecture_interpretable 20 0 34 Glycine_encephalopathy_1 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG12 mondo_mondo_0011783_medgen_c2931001_omim_607143_orphanet_79324 ALG12-congenital disorder of glycosylation MONDO:MONDO:0011783,MedGen:C2931001,OMIM:607143,Orphanet:79324 40 40 1.0000 condition_architecture_interpretable 20 0 7 ALG12-congenital_disorder_of_glycosylation 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VSX2 mondo_mondo_0012409_medgen_c1864720_omim_610093_orphanet_2542 Isolated microphthalmia 2 MONDO:MONDO:0012409,MedGen:C1864720,OMIM:610093,Orphanet:2542 39 39 1.0000 condition_architecture_interpretable 20 0 17 Isolated_microphthalmia_2 52 compact_adjacent_exon_block_opportunity local_compact_architecture TTC8 mondo_mondo_0013274_medgen_c3150715_omim_613464_orphanet_791 Retinitis pigmentosa 51 MONDO:MONDO:0013274,MedGen:C3150715,OMIM:613464,Orphanet:791 39 39 1.0000 condition_architecture_interpretable 20 0 19 Retinitis_pigmentosa_51 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 39 39 1.0000 condition_record_support_limited 20 39 19 not_provided 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRDN mondo_mondo_0011484_medgen_c1631597_omim_604772_orphanet_3286 Catecholaminergic polymorphic ventricular tachycardia 1 MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286 39 39 1.0000 condition_architecture_interpretable 20 0 19 Catecholaminergic_polymorphic_ventricular_tachycardia_1 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPP1 mondo_mondo_0012235_medgen_c1836474_omim_609270_orphanet_284324 Autosomal recessive spinocerebellar ataxia 7 MONDO:MONDO:0012235,MedGen:C1836474,OMIM:609270,Orphanet:284324 39 39 1.0000 condition_architecture_interpretable 20 0 38 Autosomal_recessive_spinocerebellar_ataxia_7 221 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP53 mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 39 39 1.0000 condition_architecture_interpretable 20 0 38 Familial_cancer_of_breast 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TLK2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 39 39 1.0000 condition_record_support_limited 20 39 13 See_cases|not_provided 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFAP2A mondo_mondo_0007235_mesh_d019280_medgen_c0376524_omim_113620_orphanet_1297 Branchiooculofacial syndrome MONDO:MONDO:0007235,MeSH:D019280,MedGen:C0376524,OMIM:113620,Orphanet:1297 39 39 1.0000 condition_architecture_interpretable 20 0 12 Branchiooculofacial_syndrome 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SQSTM1 mondo_mondo_0011183_medgen_c4085251_omim_602080 Paget disease of bone 2, early-onset MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080 39 39 1.0000 condition_architecture_interpretable 20 0 39 Paget_disease_of_bone_2,_early-onset 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SQSTM1 mondo_mondo_0007105_medgen_c5779877_omim_105550_orphanet_275872 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:MONDO:0007105,MedGen:C5779877,OMIM:105550,Orphanet:275872 39 39 1.0000 condition_architecture_interpretable 20 0 39 Frontotemporal_dementia_and/or_amyotrophic_lateral_sclerosis_1 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPTAN1 mondo_mondo_0013277_medgen_c3150731_omim_613477_orphanet_3451 Developmental and epileptic encephalopathy, 5 MONDO:MONDO:0013277,MedGen:C3150731,OMIM:613477,Orphanet:3451 39 39 1.0000 condition_architecture_interpretable 20 0 14 Developmental_and_epileptic_encephalopathy,_5 131 large_gene_or_donor_burden_stress_case donor_burden_stress SPEG condition_not_provided condition not provided MedGen:C3661900 39 39 1.0000 condition_record_support_limited 20 39 7 not_provided 51 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SLC4A1 mondo_mondo_0012981_medgen_c2675212_omim_612653_orphanet_822 Hereditary spherocytosis type 4 MONDO:MONDO:0012981,MedGen:C2675212,OMIM:612653,Orphanet:822 39 39 1.0000 condition_architecture_interpretable 20 0 25 Hereditary_spherocytosis_type_4 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAF1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 39 39 1.0000 condition_record_support_limited 20 39 31 not_provided|not_specified 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN23 condition_not_provided condition not provided MedGen:C3661900 39 39 1.0000 condition_record_support_limited 20 39 2 not_provided 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKN condition_not_provided condition not provided MedGen:C3661900 39 39 1.0000 condition_record_support_limited 20 39 22 not_provided 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRF1 mondo_mondo_0015541_medgen_c0272199_omim_ps267700_orphanet_158038_orphanet_540 Familial hemophagocytic lymphohistiocytosis MONDO:MONDO:0015541,MedGen:C0272199,OMIM:PS267700,Orphanet:158038,Orphanet:540 39 39 1.0000 condition_architecture_interpretable 20 0 33 Familial_hemophagocytic_lymphohistiocytosis 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRDM5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 39 39 1.0000 condition_record_support_limited 20 39 12 not_provided 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGQ mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 39 39 1.0000 condition_architecture_interpretable 20 0 8 Epilepsy 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTOGL mondo_mondo_0013984_medgen_c3554159_omim_614944_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 84B MONDO:MONDO:0013984,MedGen:C3554159,OMIM:614944,Orphanet:90636 39 39 1.0000 condition_architecture_interpretable 20 0 15 Autosomal_recessive_nonsyndromic_hearing_loss_84B 99 large_gene_or_donor_burden_stress_case donor_burden_stress OPLAH human_phenotype_ontology_hp_0040142_mondo_mondo_0009825_medgen_c0268525_omim_260005_orphanet_33572 5-Oxoprolinase deficiency Human_Phenotype_Ontology:HP:0040142,MONDO:MONDO:0009825,MedGen:C0268525,OMIM:260005,Orphanet:33572 39 39 1.0000 condition_architecture_interpretable 20 0 1 5-Oxoprolinase_deficiency 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO3A condition_not_provided condition not provided MedGen:C3661900 39 39 1.0000 condition_record_support_limited 20 39 9 not_provided 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSH6 mondo_mondo_0007356_medgen_c2936783_omim_120435_orphanet_144 Lynch syndrome 1 MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144 39 39 1.0000 condition_architecture_interpretable 20 0 34 Lynch_syndrome_1 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MID1 mondo_mondo_0010222_medgen_c2936904_omim_300000_orphanet_2745 X-linked Opitz G/BBB syndrome MONDO:MONDO:0010222,MedGen:C2936904,OMIM:300000,Orphanet:2745 39 39 1.0000 condition_architecture_interpretable 20 0 8 X-linked_Opitz_G/BBB_syndrome 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEGF8 mondo_mondo_0013998_medgen_c3554247_omim_614976_orphanet_65759 MEGF8-related Carpenter syndrome MONDO:MONDO:0013998,MedGen:C3554247,OMIM:614976,Orphanet:65759 39 39 1.0000 condition_architecture_interpretable 20 0 1 MEGF8-related_Carpenter_syndrome 43 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KRT1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 39 39 1.0000 condition_record_support_limited 20 39 21 not_provided 48 compact_adjacent_exon_block_opportunity local_compact_architecture KIAA0753 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 39 39 1.0000 condition_record_support_limited 20 39 9 not_provided|not_specified 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 39 39 1.0000 condition_architecture_interpretable 20 0 31 Inborn_genetic_diseases 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JAG1 jag1_related_disorder JAG1-related disorder . 39 39 1.0000 condition_architecture_interpretable 20 0 13 JAG1-related_disorder 461 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA6 condition_not_provided condition not provided MedGen:C3661900 39 39 1.0000 condition_record_support_limited 20 39 4 not_provided 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPS4 condition_not_provided condition not provided MedGen:C3661900 39 39 1.0000 condition_record_support_limited 20 39 13 not_provided 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GYS2 mondo_mondo_0009414_medgen_c1855861_omim_240600_orphanet_2089 Glycogen storage disorder due to hepatic glycogen synthase deficiency MONDO:MONDO:0009414,MedGen:C1855861,OMIM:240600,Orphanet:2089 39 39 1.0000 condition_architecture_interpretable 20 0 10 Glycogen_storage_disorder_due_to_hepatic_glycogen_synthase_deficiency 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2D human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 39 39 1.0000 condition_architecture_interpretable 20 0 23 Retinal_dystrophy 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2D mondo_mondo_0100453_medgen_cn305603 GUCY2D-related recessive retinopathy MONDO:MONDO:0100453,MedGen:CN305603 39 39 1.0000 condition_architecture_interpretable 20 0 30 GUCY2D-related_recessive_retinopathy 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GHR condition_not_provided condition not provided .|MedGen:C3661900 39 39 1.0000 condition_record_support_limited 20 39 14 See_cases|not_provided 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCK mondo_mondo_0011236_medgen_c1865290_omim_602485_orphanet_79299 Hyperinsulinism due to glucokinase deficiency MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299 39 39 1.0000 condition_architecture_interpretable 20 0 36 Hyperinsulinism_due_to_glucokinase_deficiency 655 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA1 mondo_mondo_0011945_medgen_c1842704_omim_608013_orphanet_85212 Gaucher disease perinatal lethal MONDO:MONDO:0011945,MedGen:C1842704,OMIM:608013,Orphanet:85212 39 39 1.0000 condition_architecture_interpretable 20 0 36 Gaucher_disease_perinatal_lethal 360 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FIG4 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 39 39 1.0000 condition_record_support_limited 20 39 27 See_cases|not_provided 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 mondo_mondo_0007043_medgen_c0220658_omim_101600_orphanet_710 Pfeiffer syndrome MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orphanet:710 39 39 1.0000 condition_architecture_interpretable 20 0 34 Pfeiffer_syndrome 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGD1 condition_not_provided condition not provided MedGen:C3661900 39 39 1.0000 condition_record_support_limited 20 39 9 not_provided 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCF mondo_mondo_0011325_medgen_c3469526_omim_603467_orphanet_84 Fanconi anemia complementation group F MONDO:MONDO:0011325,MedGen:C3469526,OMIM:603467,Orphanet:84 39 39 1.0000 condition_architecture_interpretable 20 0 15 Fanconi_anemia_complementation_group_F 57 single_exon_hotspot_opportunity local_compact_architecture FANCD2OS mondo_mondo_0009214_medgen_c3160738_omim_227646_orphanet_84 Fanconi anemia complementation group D2 MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646,Orphanet:84 39 39 1.0000 condition_architecture_interpretable 20 0 18 Fanconi_anemia_complementation_group_D2 72 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F13A1 human_phenotype_ontology_hp_0040233_mondo_mondo_0013187_medgen_c2750514_omim_613225_orphanet_331 Factor XIII, A subunit, deficiency of Human_Phenotype_Ontology:HP:0040233,MONDO:MONDO:0013187,MedGen:C2750514,OMIM:613225,Orphanet:331 39 39 1.0000 condition_architecture_interpretable 20 0 11 Factor_XIII,_A_subunit,_deficiency_of 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA4 mondo_mondo_0011541_medgen_c1854368_omim_605362_orphanet_217622 Dilated cardiomyopathy 1J MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362,Orphanet:217622 39 39 1.0000 condition_architecture_interpretable 20 0 8 Dilated_cardiomyopathy_1J 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ESCO2 mondo_mondo_0008992_medgen_c0796099_omim_216100_orphanet_2319 Juberg-Hayward syndrome MONDO:MONDO:0008992,MedGen:C0796099,OMIM:216100,Orphanet:2319 39 39 1.0000 condition_architecture_interpretable 20 0 39 Juberg-Hayward_syndrome 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYLD condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 39 39 1.0000 condition_record_support_limited 20 39 9 not_provided|not_specified 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CP mondo_mondo_0013555_medgen_c3888001_omim_614072_orphanet_231512_orphanet_79430 Hermansky-Pudlak syndrome 3 MONDO:MONDO:0013555,MedGen:C3888001,OMIM:614072,Orphanet:231512,Orphanet:79430 39 39 1.0000 condition_architecture_interpretable 20 0 20 Hermansky-Pudlak_syndrome_3 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A3 condition_not_provided condition not provided MedGen:C3661900 39 39 1.0000 condition_record_support_limited 20 39 9 not_provided 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCNKB mondo_mondo_0000909_medgen_c4310805_omim_613090_orphanet_112 Bartter disease type 4B MONDO:MONDO:0000909,MedGen:C4310805,OMIM:613090,Orphanet:112 39 39 1.0000 condition_architecture_interpretable 20 0 39 Bartter_disease_type_4B 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN5 mondo_mondo_0010687_medgen_c0403720_omim_310468_orphanet_1652_orphanet_93622 X-linked recessive nephrolithiasis with renal failure MONDO:MONDO:0010687,MedGen:C0403720,OMIM:310468,Orphanet:1652,Orphanet:93622 39 39 1.0000 condition_architecture_interpretable 20 0 38 X-linked_recessive_nephrolithiasis_with_renal_failure 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDAN1 condition_not_provided condition not provided MedGen:C3661900 39 39 1.0000 condition_record_support_limited 20 39 9 not_provided 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C8B condition_not_provided condition not provided MedGen:C3661900 39 39 1.0000 condition_record_support_limited 20 39 8 not_provided 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATM breast_and_or_ovarian_cancer Breast and/or ovarian cancer MedGen:CN221562 39 39 1.0000 condition_architecture_interpretable 20 0 37 Breast_and/or_ovarian_cancer 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ARHGEF9 mondo_mondo_0010375_medgen_c1845102_omim_300607_orphanet_163985_orphanet_2076 Developmental and epileptic encephalopathy, 8 MONDO:MONDO:0010375,MedGen:C1845102,OMIM:300607,Orphanet:163985,Orphanet:2076 39 39 1.0000 condition_architecture_interpretable 20 0 12 Developmental_and_epileptic_encephalopathy,_8 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AQP2 condition_not_provided condition not provided MedGen:C3661900 39 39 1.0000 condition_record_support_limited 20 39 23 not_provided 75 compact_adjacent_exon_block_opportunity local_compact_architecture AMPD2 mondo_mondo_0014351_medgen_c4014354_omim_615809_orphanet_369920 Pontocerebellar hypoplasia type 9 MONDO:MONDO:0014351,MedGen:C4014354,OMIM:615809,Orphanet:369920 39 39 1.0000 condition_architecture_interpretable 20 0 25 Pontocerebellar_hypoplasia_type_9 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHI1 condition_not_provided condition not provided .|MedGen:C3661900 39 39 1.0000 condition_record_support_limited 20 39 31 See_cases|not_provided 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A9 mondo_mondo_0021020_medgen_c0010324_omim_218800_orphanet_79234 Crigler-Najjar syndrome type 1 MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234 38 38 1.0000 condition_architecture_interpretable 20 0 31 Crigler-Najjar_syndrome_type_1 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A8 mondo_mondo_0021020_medgen_c0010324_omim_218800_orphanet_79234 Crigler-Najjar syndrome type 1 MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234 38 38 1.0000 condition_architecture_interpretable 20 0 31 Crigler-Najjar_syndrome_type_1 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A7 mondo_mondo_0021020_medgen_c0010324_omim_218800_orphanet_79234 Crigler-Najjar syndrome type 1 MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234 38 38 1.0000 condition_architecture_interpretable 20 0 31 Crigler-Najjar_syndrome_type_1 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A6 mondo_mondo_0021020_medgen_c0010324_omim_218800_orphanet_79234 Crigler-Najjar syndrome type 1 MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234 38 38 1.0000 condition_architecture_interpretable 20 0 31 Crigler-Najjar_syndrome_type_1 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A5 mondo_mondo_0021020_medgen_c0010324_omim_218800_orphanet_79234 Crigler-Najjar syndrome type 1 MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234 38 38 1.0000 condition_architecture_interpretable 20 0 31 Crigler-Najjar_syndrome_type_1 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A4 mondo_mondo_0021020_medgen_c0010324_omim_218800_orphanet_79234 Crigler-Najjar syndrome type 1 MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234 38 38 1.0000 condition_architecture_interpretable 20 0 31 Crigler-Najjar_syndrome_type_1 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A3 mondo_mondo_0021020_medgen_c0010324_omim_218800_orphanet_79234 Crigler-Najjar syndrome type 1 MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234 38 38 1.0000 condition_architecture_interpretable 20 0 31 Crigler-Najjar_syndrome_type_1 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A10 mondo_mondo_0021020_medgen_c0010324_omim_218800_orphanet_79234 Crigler-Najjar syndrome type 1 MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234 38 38 1.0000 condition_architecture_interpretable 20 0 31 Crigler-Najjar_syndrome_type_1 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A1 mondo_mondo_0021020_medgen_c0010324_omim_218800_orphanet_79234 Crigler-Najjar syndrome type 1 MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234 38 38 1.0000 condition_architecture_interpretable 20 0 31 Crigler-Najjar_syndrome_type_1 80 compact_adjacent_exon_block_opportunity local_compact_architecture TYR tyr_related_disorder TYR-related disorder . 38 38 1.0000 condition_architecture_interpretable 20 0 36 TYR-related_disorder 311 compact_adjacent_exon_block_opportunity local_compact_architecture TUBB4A mondo_mondo_0012905_medgen_c2676244_omim_612438_orphanet_139441 Hypomyelinating leukodystrophy 6 MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441 38 38 1.0000 condition_architecture_interpretable 20 0 20 Hypomyelinating_leukodystrophy_6 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC9 mondo_mondo_0013173_medgen_c2750791_omim_613192_orphanet_88616 Intellectual disability, autosomal recessive 13 MONDO:MONDO:0013173,MedGen:C2750791,OMIM:613192,Orphanet:88616 38 38 1.0000 condition_architecture_interpretable 20 0 14 Intellectual_disability,_autosomal_recessive_13 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNT2 mondo_mondo_0012900_medgen_c2676271_omim_612422_orphanet_75249 Cardiomyopathy, familial restrictive, 3 MONDO:MONDO:0012900,MedGen:C2676271,OMIM:612422,Orphanet:75249 38 38 1.0000 condition_architecture_interpretable 20 0 38 Cardiomyopathy,_familial_restrictive,_3 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMC6 mondo_mondo_0009176_medgen_c0014522_orphanet_302 Epidermodysplasia verruciformis MONDO:MONDO:0009176,MedGen:C0014522,Orphanet:302 38 38 1.0000 condition_architecture_interpretable 20 0 3 Epidermodysplasia_verruciformis 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBL1XR1 mondo_mondo_0014842_medgen_c4310784_omim_616944_orphanet_2823 Intellectual disability, autosomal dominant 41 MONDO:MONDO:0014842,MedGen:C4310784,OMIM:616944,Orphanet:2823 38 38 1.0000 condition_architecture_interpretable 20 0 16 Intellectual_disability,_autosomal_dominant_41 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STRC mondo_mondo_0011364_medgen_c1863561_omim_603720_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 16 MONDO:MONDO:0011364,MedGen:C1863561,OMIM:603720,Orphanet:90636 38 38 1.0000 condition_architecture_interpretable 20 0 20 Autosomal_recessive_nonsyndromic_hearing_loss_16 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPATA22 medgen_c0751663 Canavan Disease, Familial Form MedGen:C0751663 38 38 1.0000 condition_architecture_interpretable 20 0 34 Canavan_Disease,_Familial_Form 186 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SCN4A mondo_mondo_0013234_medgen_c2750061_omim_613345_orphanet_681 Hypokalemic periodic paralysis, type 2 MONDO:MONDO:0013234,MedGen:C2750061,OMIM:613345,Orphanet:681 38 38 1.0000 condition_architecture_interpretable 20 0 35 Hypokalemic_periodic_paralysis,_type_2 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RYR2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 38 38 1.0000 condition_architecture_interpretable 20 0 28 Cardiovascular_phenotype 254 large_gene_or_donor_burden_stress_case donor_burden_stress RP2 mondo_mondo_0010723_medgen_c2681923_omim_312600_orphanet_791 Retinitis pigmentosa 2 MONDO:MONDO:0010723,MedGen:C2681923,OMIM:312600,Orphanet:791 38 38 1.0000 condition_architecture_interpretable 20 0 15 Retinitis_pigmentosa_2 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RP2 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 38 38 1.0000 condition_architecture_interpretable 20 0 12 Retinal_dystrophy 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ROR2 mondo_mondo_0009999_medgen_c5399974_omim_268310_orphanet_1507_orphanet_97360 Autosomal recessive Robinow syndrome MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310,Orphanet:1507,Orphanet:97360 38 38 1.0000 condition_architecture_interpretable 20 0 13 Autosomal_recessive_Robinow_syndrome 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RECQL4 condition_not_provided condition not provided .|MedGen:C3661900 38 38 1.0000 condition_record_support_limited 20 38 32 See_cases|not_provided 385 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB9B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 38 38 1.0000 condition_record_support_limited 20 38 20 not_provided 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP1 condition_not_provided condition not provided MedGen:C3661900 38 38 1.0000 condition_record_support_limited 20 38 16 not_provided 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 38 38 1.0000 condition_record_support_limited 20 38 14 not_provided 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROP1 condition_not_provided condition not provided MedGen:C3661900 38 38 1.0000 condition_record_support_limited 20 38 26 not_provided 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POU4F3 mondo_mondo_0011226_medgen_c1865366_omim_602459_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 15 MONDO:MONDO:0011226,MedGen:C1865366,OMIM:602459,Orphanet:90635 38 38 1.0000 condition_architecture_interpretable 20 0 4 Autosomal_dominant_nonsyndromic_hearing_loss_15 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA2 mondo_mondo_0012545_medgen_c1853136_omim_610717_orphanet_98908 Neutral lipid storage myopathy MONDO:MONDO:0012545,MedGen:C1853136,OMIM:610717,Orphanet:98908 38 38 1.0000 condition_architecture_interpretable 20 0 4 Neutral_lipid_storage_myopathy 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLP1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 38 38 1.0000 condition_record_support_limited 20 38 20 not_provided 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0011240_medgen_c1865285_omim_602501_orphanet_60040 Megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:MONDO:0011240,MedGen:C1865285,OMIM:602501,Orphanet:60040 38 38 1.0000 condition_architecture_interpretable 20 0 31 Megalencephaly-capillary_malformation-polymicrogyria_syndrome 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX13 mondo_mondo_0013949_medgen_c3554000_omim_614883_orphanet_912 Peroxisome biogenesis disorder 11A (Zellweger) MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883,Orphanet:912 38 38 1.0000 condition_architecture_interpretable 20 0 9 Peroxisome_biogenesis_disorder_11A_(Zellweger) 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NOTCH1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 38 38 1.0000 condition_record_support_limited 20 38 14 See_cases|not_provided 163 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NAGA mondo_mondo_0012221_medgen_c1836544_omim_609241_orphanet_3137_orphanet_79279_orphanet_79281 Alpha-N-acetylgalactosaminidase deficiency type 1 MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241,Orphanet:3137,Orphanet:79279,Orphanet:79281 38 38 1.0000 condition_architecture_interpretable 20 0 9 Alpha-N-acetylgalactosaminidase_deficiency_type_1 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYCN condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 38 38 1.0000 condition_record_support_limited 20 38 11 See_cases|not_provided 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MESP2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 38 38 1.0000 condition_record_support_limited 20 38 10 not_provided 77 compact_adjacent_exon_block_opportunity local_compact_architecture MAGT1 mondo_mondo_0010455_medgen_c3275445_omim_300853_orphanet_317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia MONDO:MONDO:0010455,MedGen:C3275445,OMIM:300853,Orphanet:317476 38 38 1.0000 condition_architecture_interpretable 20 0 4 X-linked_immunodeficiency_with_magnesium_defect,_Epstein-Barr_virus_infection_and_neoplasia 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LCT condition_not_provided condition not provided MedGen:C3661900 38 38 1.0000 condition_record_support_limited 20 38 5 not_provided 49 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LARS2 condition_not_provided condition not provided MedGen:C3661900 38 38 1.0000 condition_record_support_limited 20 38 10 not_provided 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARP7 mondo_mondo_0014031_medgen_c3554439_omim_615071_orphanet_319671 Microcephalic primordial dwarfism, Alazami type MONDO:MONDO:0014031,MedGen:C3554439,OMIM:615071,Orphanet:319671 38 38 1.0000 condition_architecture_interpretable 20 0 13 Microcephalic_primordial_dwarfism,_Alazami_type 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMA3 mondo_mondo_0030746_medgen_c5676936_omim_619783 Epidermolysis bullosa, junctional 2A, intermediate MONDO:MONDO:0030746,MedGen:C5676936,OMIM:619783 38 38 1.0000 condition_architecture_interpretable 20 0 36 Epidermolysis_bullosa,_junctional_2A,_intermediate 266 large_gene_or_donor_burden_stress_case donor_burden_stress HSD17B3 mondo_mondo_0009916_medgen_c0268296_omim_264300_orphanet_752 Testosterone 17-beta-dehydrogenase deficiency MONDO:MONDO:0009916,MedGen:C0268296,OMIM:264300,Orphanet:752 38 38 1.0000 condition_architecture_interpretable 20 0 21 Testosterone_17-beta-dehydrogenase_deficiency 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPS5 mondo_mondo_0013557_medgen_c3888004_omim_614074_orphanet_231512_orphanet_79430 Hermansky-Pudlak syndrome 5 MONDO:MONDO:0013557,MedGen:C3888004,OMIM:614074,Orphanet:231512,Orphanet:79430 38 38 1.0000 condition_architecture_interpretable 20 0 18 Hermansky-Pudlak_syndrome_5 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HIVEP2 mondo_mondo_0014858_medgen_c4707429_omim_616977 Intellectual disability, autosomal dominant 43 MONDO:MONDO:0014858,MedGen:C4707429,OMIM:616977 38 38 1.0000 condition_architecture_interpretable 20 0 10 Intellectual_disability,_autosomal_dominant_43 74 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture GMPPB mondo_mondo_0014141_medgen_c3809221_omim_615351 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351 38 38 1.0000 condition_architecture_interpretable 20 0 38 Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B14 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GFPT1 mondo_mondo_0012518_medgen_c3552335_omim_610542_orphanet_353327_orphanet_590 Congenital myasthenic syndrome 12 MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590 38 38 1.0000 condition_architecture_interpretable 20 0 6 Congenital_myasthenic_syndrome_12 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA1 mondo_mondo_0008199_medgen_c3160718_omim_168600_orphanet_411602 Parkinson disease, late-onset MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600,Orphanet:411602 38 38 1.0000 condition_architecture_interpretable 20 0 35 Parkinson_disease,_late-onset 360 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA1 mondo_mondo_0009268_medgen_c1856476_omim_231005_orphanet_2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome MONDO:MONDO:0009268,MedGen:C1856476,OMIM:231005,Orphanet:2072 38 38 1.0000 condition_architecture_interpretable 20 0 38 Gaucher_disease-ophthalmoplegia-cardiovascular_calcification_syndrome 360 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FTCD mondo_mondo_0009240_medgen_c0268609_omim_229100_orphanet_51208 Glutamate formiminotransferase deficiency MONDO:MONDO:0009240,MedGen:C0268609,OMIM:229100,Orphanet:51208 38 38 1.0000 condition_architecture_interpretable 20 0 5 Glutamate_formiminotransferase_deficiency 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FREM1 mondo_mondo_0012165_medgen_c2750433_omim_608980_orphanet_217266 BNAR syndrome MONDO:MONDO:0012165,MedGen:C2750433,OMIM:608980,Orphanet:217266 38 38 1.0000 condition_architecture_interpretable 20 0 33 BNAR_syndrome 71 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FGD4 mondo_mondo_0018995_medgen_c4082197_orphanet_64749 Charcot-Marie-Tooth disease type 4 MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749 38 38 1.0000 condition_architecture_interpretable 20 0 9 Charcot-Marie-Tooth_disease_type_4 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 38 38 1.0000 condition_record_support_limited 20 38 26 not_provided 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAM20A mondo_mondo_0008771_medgen_c2931783_omim_204690_orphanet_1031_orphanet_171836 Amelogenesis imperfecta type 1G MONDO:MONDO:0008771,MedGen:C2931783,OMIM:204690,Orphanet:1031,Orphanet:171836 38 38 1.0000 condition_architecture_interpretable 20 0 7 Amelogenesis_imperfecta_type_1G 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F7 mondo_mondo_0002244_mesh_d005168_medgen_c0015503 Factor VII deficiency MONDO:MONDO:0002244,MeSH:D005168,MedGen:C0015503 38 38 1.0000 condition_architecture_interpretable 20 0 18 Factor_VII_deficiency 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFEMP2 mondo_mondo_0013754_medgen_c3280798_omim_614437_orphanet_90349 Cutis laxa, autosomal recessive, type 1B MONDO:MONDO:0013754,MedGen:C3280798,OMIM:614437,Orphanet:90349 38 38 1.0000 condition_architecture_interpretable 20 0 12 Cutis_laxa,_autosomal_recessive,_type_1B 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUX1 mondo_mondo_0032680_medgen_c5193032_omim_618330 Global developmental delay with or without impaired intellectual development MONDO:MONDO:0032680,MedGen:C5193032,OMIM:618330 38 38 1.0000 condition_architecture_interpretable 20 0 5 Global_developmental_delay_with_or_without_impaired_intellectual_development 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTCF condition_not_provided condition not provided .|MedGen:C3661900 38 38 1.0000 condition_record_support_limited 20 38 13 See_cases|not_provided 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A1 human_phenotype_ontology_hp_0000631_mondo_mondo_0008373_medgen_c0423401_omim_180000_orphanet_75326 Retinal arterial tortuosity Human_Phenotype_Ontology:HP:0000631,MONDO:MONDO:0008373,MedGen:C0423401,OMIM:180000,Orphanet:75326 38 38 1.0000 condition_architecture_interpretable 20 0 38 Retinal_arterial_tortuosity 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 mondo_mondo_0100533_medgen_c3281105_omim_614519 Hemorrhage, intracerebral, susceptibility to MONDO:MONDO:0100533,MedGen:C3281105,OMIM:614519 38 38 1.0000 condition_architecture_interpretable 20 0 37 Hemorrhage,_intracerebral,_susceptibility_to 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL27A1 mondo_mondo_0014061_medgen_c3554594_omim_615155_orphanet_438117 Steel syndrome MONDO:MONDO:0014061,MedGen:C3554594,OMIM:615155,Orphanet:438117 38 38 1.0000 condition_architecture_interpretable 20 0 13 Steel_syndrome 158 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 mondo_mondo_0030854_medgen_c5436842_omim_619115 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 MONDO:MONDO:0030854,MedGen:C5436842,OMIM:619115 38 38 1.0000 condition_architecture_interpretable 20 0 35 Combined_osteogenesis_imperfecta_and_Ehlers-Danlos_syndrome_1 1430 large_gene_or_donor_burden_stress_case donor_burden_stress CLCN5 mondo_mondo_0010358_medgen_c1845168_omim_300554_orphanet_1652_orphanet_93622 Hypophosphatemic rickets, X-linked recessive MONDO:MONDO:0010358,MedGen:C1845168,OMIM:300554,Orphanet:1652,Orphanet:93622 38 38 1.0000 condition_architecture_interpretable 20 0 37 Hypophosphatemic_rickets,_X-linked_recessive 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CIC mondo_mondo_0030910_medgen_c4539848_omim_617600 Intellectual disability, autosomal dominant 45 MONDO:MONDO:0030910,MedGen:C4539848,OMIM:617600 38 38 1.0000 condition_architecture_interpretable 20 0 7 Intellectual_disability,_autosomal_dominant_45 75 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHKB mondo_mondo_0011246_medgen_c1865233_omim_602541_orphanet_280671 Megaconial type congenital muscular dystrophy MONDO:MONDO:0011246,MedGen:C1865233,OMIM:602541,Orphanet:280671 38 38 1.0000 condition_architecture_interpretable 20 0 4 Megaconial_type_congenital_muscular_dystrophy 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHD7 mondo_mondo_0012880_medgen_c3552553_omim_612370_orphanet_478 Hypogonadotropic hypogonadism 5 with or without anosmia MONDO:MONDO:0012880,MedGen:C3552553,OMIM:612370,Orphanet:478 38 38 1.0000 condition_architecture_interpretable 20 0 22 Hypogonadotropic_hypogonadism_5_with_or_without_anosmia 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CDH23 mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 Usher syndrome MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 38 38 1.0000 condition_architecture_interpretable 20 0 28 Usher_syndrome 725 large_gene_or_donor_burden_stress_case donor_burden_stress C3 condition_not_provided condition not provided MedGen:C3661900 38 38 1.0000 condition_record_support_limited 20 38 11 not_provided 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C3 mondo_mondo_0013417_medgen_c3151071_omim_613779_orphanet_280133 Complement component 3 deficiency MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779,Orphanet:280133 38 38 1.0000 condition_architecture_interpretable 20 0 17 Complement_component_3_deficiency 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BPTF mondo_mondo_0060596_medgen_c4540327_omim_617755_orphanet_686482 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies MONDO:MONDO:0060596,MedGen:C4540327,OMIM:617755,Orphanet:686482 38 38 1.0000 condition_architecture_interpretable 20 0 9 Neurodevelopmental_disorder_with_dysmorphic_facies_and_distal_limb_anomalies 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BCL11A condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 38 38 1.0000 condition_record_support_limited 20 38 8 See_cases|not_provided 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASPA medgen_c0751663 Canavan Disease, Familial Form MedGen:C0751663 38 38 1.0000 condition_architecture_interpretable 20 0 34 Canavan_Disease,_Familial_Form 182 compact_adjacent_exon_block_opportunity local_compact_architecture ALPL alpl_related_disorder ALPL-related disorder . 38 38 1.0000 condition_architecture_interpretable 20 0 37 ALPL-related_disorder 532 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIP condition_not_provided condition not provided MedGen:C3661900 38 38 1.0000 condition_record_support_limited 20 38 14 not_provided 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRV1 mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 Usher syndrome MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 38 38 1.0000 condition_architecture_interpretable 20 0 20 Usher_syndrome 650 large_gene_or_donor_burden_stress_case donor_burden_stress ACP5 mondo_mondo_0011939_medgen_c1842763_omim_607944_orphanet_1855 Spondyloenchondrodysplasia with immune dysregulation MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944,Orphanet:1855 38 38 1.0000 condition_architecture_interpretable 20 0 6 Spondyloenchondrodysplasia_with_immune_dysregulation 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF292 condition_not_provided condition not provided MedGen:C3661900 37 37 1.0000 condition_record_support_limited 20 37 14 not_provided 99 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture XDH mondo_mondo_0010209_medgen_c0268118_omim_278300_orphanet_3467_orphanet_93601 Hereditary xanthinuria type 1 MONDO:MONDO:0010209,MedGen:C0268118,OMIM:278300,Orphanet:3467,Orphanet:93601 37 37 1.0000 condition_architecture_interpretable 20 0 10 Hereditary_xanthinuria_type_1 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBE3B condition_not_provided condition not provided MedGen:C3661900 37 37 1.0000 condition_record_support_limited 20 37 7 not_provided 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBE3B mondo_mondo_0009485_medgen_c1855663_omim_244450_orphanet_2707 Oculocerebrofacial syndrome, Kaufman type MONDO:MONDO:0009485,MedGen:C1855663,OMIM:244450,Orphanet:2707 37 37 1.0000 condition_architecture_interpretable 20 0 8 Oculocerebrofacial_syndrome,_Kaufman_type 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB2B mondo_mondo_0012399_medgen_c3552236_omim_610031_orphanet_300573 Complex cortical dysplasia with other brain malformations 7 MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573 37 37 1.0000 condition_architecture_interpretable 20 0 10 Complex_cortical_dysplasia_with_other_brain_malformations_7 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 mondo_mondo_0011633_medgen_c1853710_omim_606071_orphanet_99937 Charcot-Marie-Tooth disease axonal type 2C MONDO:MONDO:0011633,MedGen:C1853710,OMIM:606071,Orphanet:99937 37 37 1.0000 condition_architecture_interpretable 20 0 23 Charcot-Marie-Tooth_disease_axonal_type_2C 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMC8 mondo_mondo_0009176_medgen_c0014522_orphanet_302 Epidermodysplasia verruciformis MONDO:MONDO:0009176,MedGen:C0014522,Orphanet:302 37 37 1.0000 condition_architecture_interpretable 20 0 3 Epidermodysplasia_verruciformis 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOD1 condition_not_provided condition not provided .|MedGen:C3661900 37 37 1.0000 condition_record_support_limited 20 37 35 See_cases|not_provided 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMC1A mondo_mondo_0026771_medgen_c5393312_omim_301044 Developmental and epileptic encephalopathy, 85, with or without midline brain defects MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044 37 37 1.0000 condition_architecture_interpretable 20 0 17 Developmental_and_epileptic_encephalopathy,_85,_with_or_without_midline_brain_defects 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD6 human_phenotype_ontology_hp_0002974_human_phenotype_ontology_hp_0003962_mondo_mondo_0017985_medgen_c0158761_orphanet_3269 Radioulnar synostosis Human_Phenotype_Ontology:HP:0002974,Human_Phenotype_Ontology:HP:0003962,MONDO:MONDO:0017985,MedGen:C0158761,Orphanet:3269 37 37 1.0000 condition_architecture_interpretable 20 0 13 Radioulnar_synostosis 82 compact_adjacent_exon_block_opportunity local_compact_architecture SLC5A2 mondo_mondo_0009297_medgen_c3245525_omim_233100_orphanet_69076 Familial renal glucosuria MONDO:MONDO:0009297,MedGen:C3245525,OMIM:233100,Orphanet:69076 37 37 1.0000 condition_architecture_interpretable 20 0 5 Familial_renal_glucosuria 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SH2D1A mondo_mondo_0024551_medgen_c5399825_omim_308240_orphanet_2442_orphanet_538931 X-linked lymphoproliferative disease due to SH2D1A deficiency MONDO:MONDO:0024551,MedGen:C5399825,OMIM:308240,Orphanet:2442,Orphanet:538931 37 37 1.0000 condition_architecture_interpretable 20 0 4 X-linked_lymphoproliferative_disease_due_to_SH2D1A_deficiency 43 compact_adjacent_exon_block_opportunity local_compact_architecture SGCD mondo_mondo_0011028_medgen_c1832525_omim_601287_orphanet_219 Autosomal recessive limb-girdle muscular dystrophy type 2F MONDO:MONDO:0011028,MedGen:C1832525,OMIM:601287,Orphanet:219 37 37 1.0000 condition_architecture_interpretable 20 0 18 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2F 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN2A scn2a_related_disorder SCN2A-related disorder . 37 37 1.0000 condition_architecture_interpretable 20 0 20 SCN2A-related_disorder 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A scn1a_related_disorder SCN1A-related disorder . 37 37 1.0000 condition_architecture_interpretable 20 0 22 SCN1A-related_disorder 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RYR1 mondo_mondo_0100150_medgen_cn305348_orphanet_98742 RYR1-related myopathy MONDO:MONDO:0100150,MedGen:CN305348,Orphanet:98742 37 37 1.0000 condition_architecture_interpretable 20 0 25 RYR1-related_myopathy 770 large_gene_or_donor_burden_stress_case donor_burden_stress RUSC2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 37 37 1.0000 condition_record_support_limited 20 37 2 not_provided 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 mondo_mondo_0020297_medgen_c5681679_orphanet_98733 Noonan syndrome and Noonan-related syndrome MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 37 37 1.0000 condition_architecture_interpretable 20 0 37 Noonan_syndrome_and_Noonan-related_syndrome 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROS1 mondo_mondo_0012868_medgen_c3278211_omim_612336_orphanet_26349_orphanet_743 Thrombophilia due to protein S deficiency, autosomal dominant MONDO:MONDO:0012868,MedGen:C3278211,OMIM:612336,Orphanet:26349,Orphanet:743 37 37 1.0000 condition_architecture_interpretable 20 0 17 Thrombophilia_due_to_protein_S_deficiency,_autosomal_dominant 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMGNT1 condition_not_provided condition not provided MedGen:C3661900 37 37 1.0000 condition_record_support_limited 20 37 28 not_provided 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDHB mondo_mondo_0013580_medgen_c3279841_omim_614111_orphanet_255138_orphanet_765 Pyruvate dehydrogenase E1-beta deficiency MONDO:MONDO:0013580,MedGen:C3279841,OMIM:614111,Orphanet:255138,Orphanet:765 37 37 1.0000 condition_architecture_interpretable 20 0 6 Pyruvate_dehydrogenase_E1-beta_deficiency 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NUS1 mondo_mondo_0014904_medgen_c4310727_omim_617082 Congenital disorder of glycosylation, type IAA MONDO:MONDO:0014904,MedGen:C4310727,OMIM:617082 37 37 1.0000 condition_architecture_interpretable 20 0 4 Congenital_disorder_of_glycosylation,_type_IAA 81 compact_adjacent_exon_block_opportunity local_compact_architecture NR0B1 mondo_mondo_0010226_medgen_c1848296_omim_300018 46,XY sex reversal 2 MONDO:MONDO:0010226,MedGen:C1848296,OMIM:300018 37 37 1.0000 condition_architecture_interpretable 20 0 37 46,XY_sex_reversal_2 124 compact_adjacent_exon_block_opportunity local_compact_architecture NPHP1 mondo_mondo_0009962_medgen_c4551559_omim_266900_orphanet_3156 Senior-Loken syndrome 1 MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900,Orphanet:3156 37 37 1.0000 condition_architecture_interpretable 20 0 36 Senior-Loken_syndrome_1 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NLRP3 mondo_mondo_0016168_medgen_c2316212_orphanet_208650 Cryopyrin associated periodic syndrome MONDO:MONDO:0016168,MedGen:C2316212,Orphanet:208650 37 37 1.0000 condition_architecture_interpretable 20 0 27 Cryopyrin_associated_periodic_syndrome 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYT1L condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 37 37 1.0000 condition_record_support_limited 20 37 11 not_provided 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYH7 mondo_mondo_0009708_medgen_c1850709_omim_255160_orphanet_636970 Myopathy, myosin storage, autosomal recessive MONDO:MONDO:0009708,MedGen:C1850709,OMIM:255160,Orphanet:636970 37 37 1.0000 condition_architecture_interpretable 20 0 37 Myopathy,_myosin_storage,_autosomal_recessive 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MOCOS mondo_mondo_0011346_medgen_c1863688_omim_603592_orphanet_3467_orphanet_93602 Xanthinuria type II MONDO:MONDO:0011346,MedGen:C1863688,OMIM:603592,Orphanet:3467,Orphanet:93602 37 37 1.0000 condition_architecture_interpretable 20 0 2 Xanthinuria_type_II 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFSD8 mondo_mondo_0015674_medgen_c0022340 Late-infantile neuronal ceroid lipofuscinosis MONDO:MONDO:0015674,MedGen:C0022340 37 37 1.0000 condition_architecture_interpretable 20 0 32 Late-infantile_neuronal_ceroid_lipofuscinosis 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAT1A mondo_mondo_0009607_mesh_c564683_medgen_c0268621_omim_250850_orphanet_168598 Hepatic methionine adenosyltransferase deficiency MONDO:MONDO:0009607,MeSH:C564683,MedGen:C0268621,OMIM:250850,Orphanet:168598 37 37 1.0000 condition_architecture_interpretable 20 0 11 Hepatic_methionine_adenosyltransferase_deficiency 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP4 mondo_mondo_0008931_medgen_c1859309_omim_212780_orphanet_3258 Cenani-Lenz syndactyly syndrome MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780,Orphanet:3258 37 37 1.0000 condition_architecture_interpretable 20 0 28 Cenani-Lenz_syndactyly_syndrome 46 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LPIN1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 37 37 1.0000 condition_record_support_limited 20 37 12 See_cases|not_provided 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMNA mondo_mondo_0013178_medgen_c2750785_omim_613205_orphanet_157973 Congenital muscular dystrophy due to LMNA mutation MONDO:MONDO:0013178,MedGen:C2750785,OMIM:613205,Orphanet:157973 37 37 1.0000 condition_architecture_interpretable 20 0 33 Congenital_muscular_dystrophy_due_to_LMNA_mutation 536 compact_adjacent_exon_block_opportunity local_compact_architecture LAMC2 mondo_mondo_0030748_medgen_c5676938_omim_619785 Epidermolysis bullosa, junctional 3A, intermediate MONDO:MONDO:0030748,MedGen:C5676938,OMIM:619785 37 37 1.0000 condition_architecture_interpretable 20 0 34 Epidermolysis_bullosa,_junctional_3A,_intermediate 223 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KMT2D mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 37 37 1.0000 condition_architecture_interpretable 20 0 19 Inborn_genetic_diseases 1026 large_gene_or_donor_burden_stress_case donor_burden_stress IRF2BPL condition_not_provided condition not provided MedGen:C3661900 37 37 1.0000 condition_record_support_limited 20 37 14 not_provided 96 single_exon_hotspot_opportunity local_compact_architecture HPD mondo_mondo_0010162_medgen_c0268623_omim_276710_orphanet_69723 Tyrosinemia type III MONDO:MONDO:0010162,MedGen:C0268623,OMIM:276710,Orphanet:69723 37 37 1.0000 condition_architecture_interpretable 20 0 31 Tyrosinemia_type_III 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNRNPU condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 37 37 1.0000 condition_record_support_limited 20 37 13 See_cases|not_provided 148 compact_adjacent_exon_block_opportunity local_compact_architecture HBA1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 37 37 1.0000 condition_record_support_limited 20 37 30 not_provided|not_specified 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation GNB1 mondo_mondo_0014855_medgen_c4310774_omim_616973_orphanet_488613 Intellectual disability, autosomal dominant 42 MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613 37 37 1.0000 condition_architecture_interpretable 20 0 21 Intellectual_disability,_autosomal_dominant_42 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA3 mondo_mondo_0011162_medgen_c1866078_omim_601885_orphanet_91492 Cataract 14 multiple types MONDO:MONDO:0011162,MedGen:C1866078,OMIM:601885,Orphanet:91492 37 37 1.0000 condition_architecture_interpretable 20 0 7 Cataract_14_multiple_types 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDF5 condition_not_provided condition not provided MedGen:C3661900 37 37 1.0000 condition_record_support_limited 20 37 13 not_provided 52 compact_adjacent_exon_block_opportunity local_compact_architecture GCH1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 37 37 1.0000 condition_record_support_limited 20 37 18 not_provided 113 compact_adjacent_exon_block_opportunity local_compact_architecture FRRS1L mondo_mondo_0014859_medgen_c4310770_omim_616981 Developmental and epileptic encephalopathy, 37 MONDO:MONDO:0014859,MedGen:C4310770,OMIM:616981 37 37 1.0000 condition_architecture_interpretable 20 0 10 Developmental_and_epileptic_encephalopathy,_37 39 compact_adjacent_exon_block_opportunity local_compact_architecture FREM1 mondo_mondo_0009560_medgen_c1855425_omim_248450_orphanet_2717 Oculotrichoanal syndrome MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717 37 37 1.0000 condition_architecture_interpretable 20 0 35 Oculotrichoanal_syndrome 71 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DNM1L condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 37 37 1.0000 condition_record_support_limited 20 37 10 not_provided|not_specified 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF11 mondo_mondo_0013979_medgen_c3543826_omim_614935_orphanet_244 Primary ciliary dyskinesia 19 MONDO:MONDO:0013979,MedGen:C3543826,OMIM:614935,Orphanet:244 37 37 1.0000 condition_architecture_interpretable 20 0 7 Primary_ciliary_dyskinesia_19 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNTN2 mondo_mondo_0014167_medgen_c3809374_omim_615400_orphanet_86814 Epilepsy, familial adult myoclonic, 5 MONDO:MONDO:0014167,MedGen:C3809374,OMIM:615400,Orphanet:86814 37 37 1.0000 condition_architecture_interpretable 20 0 2 Epilepsy,_familial_adult_myoclonic,_5 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLPB mondo_mondo_0014561_medgen_c5676893_omim_616271_orphanet_445038 3-methylglutaconic aciduria, type VIIB MONDO:MONDO:0014561,MedGen:C5676893,OMIM:616271,Orphanet:445038 37 37 1.0000 condition_architecture_interpretable 20 0 9 3-methylglutaconic_aciduria,_type_VIIB 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC73 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 37 37 1.0000 condition_architecture_interpretable 20 0 19 Hereditary_cancer-predisposing_syndrome 152 compact_adjacent_exon_block_opportunity local_compact_architecture CCN6 mondo_mondo_0008827_medgen_c0432215_omim_208230_orphanet_1159 Progressive pseudorheumatoid dysplasia MONDO:MONDO:0008827,MedGen:C0432215,OMIM:208230,Orphanet:1159 37 37 1.0000 condition_architecture_interpretable 20 0 18 Progressive_pseudorheumatoid_dysplasia 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCDC40 mondo_mondo_0013435_medgen_c3151137_omim_613808_orphanet_244 Primary ciliary dyskinesia 15 MONDO:MONDO:0013435,MedGen:C3151137,OMIM:613808,Orphanet:244 37 37 1.0000 condition_architecture_interpretable 20 0 17 Primary_ciliary_dyskinesia_15 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS5 mondo_mondo_0014434_medgen_c3892039_omim_615983_orphanet_110 Bardet-Biedl syndrome 5 MONDO:MONDO:0014434,MedGen:C3892039,OMIM:615983,Orphanet:110 37 37 1.0000 condition_architecture_interpretable 20 0 23 Bardet-Biedl_syndrome_5 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARL6 mondo_mondo_0010832_medgen_c1859564_omim_600151_orphanet_110 Bardet-Biedl syndrome 3 MONDO:MONDO:0010832,MedGen:C1859564,OMIM:600151,Orphanet:110 37 37 1.0000 condition_architecture_interpretable 20 0 33 Bardet-Biedl_syndrome_3 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO10 mondo_mondo_0013392_medgen_c3150998_omim_613728_orphanet_284289 Autosomal recessive spinocerebellar ataxia 10 MONDO:MONDO:0013392,MedGen:C3150998,OMIM:613728,Orphanet:284289 37 37 1.0000 condition_architecture_interpretable 20 0 20 Autosomal_recessive_spinocerebellar_ataxia_10 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AEBP1 condition_not_provided condition not provided MedGen:C3661900 37 37 1.0000 condition_record_support_limited 20 37 7 not_provided 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCD4 mondo_mondo_0013925_medgen_c3553915_omim_614857_orphanet_369955 Methylmalonic acidemia with homocystinuria, type cblJ MONDO:MONDO:0013925,MedGen:C3553915,OMIM:614857,Orphanet:369955 37 37 1.0000 condition_architecture_interpretable 20 0 5 Methylmalonic_acidemia_with_homocystinuria,_type_cblJ 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AARS2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 37 37 1.0000 condition_record_support_limited 20 37 10 not_provided 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZIC2 mondo_mondo_0012322_medgen_c1864827_omim_609637_orphanet_2162 Holoprosencephaly 5 MONDO:MONDO:0012322,MedGen:C1864827,OMIM:609637,Orphanet:2162 36 36 1.0000 condition_architecture_interpretable 20 0 1 Holoprosencephaly_5 51 compact_adjacent_exon_block_opportunity local_compact_architecture ZBTB20 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 36 36 1.0000 condition_record_support_limited 20 36 10 See_cases|not_provided 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WHRN condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 36 36 1.0000 condition_record_support_limited 20 36 6 not_provided|not_specified 55 compact_adjacent_exon_block_opportunity local_compact_architecture WDR72 mondo_mondo_0013181_medgen_c2750771_omim_613211_orphanet_88661 Amelogenesis imperfecta hypomaturation type 2A3 MONDO:MONDO:0013181,MedGen:C2750771,OMIM:613211,Orphanet:88661 36 36 1.0000 condition_architecture_interpretable 20 0 5 Amelogenesis_imperfecta_hypomaturation_type_2A3 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR26 mondo_mondo_0054636_medgen_c4539927_omim_617616_orphanet_513456 Skraban-Deardorff syndrome MONDO:MONDO:0054636,MedGen:C4539927,OMIM:617616,Orphanet:513456 36 36 1.0000 condition_architecture_interpretable 20 0 1 Skraban-Deardorff_syndrome 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VLDLR condition_not_provided condition not provided MedGen:C3661900 36 36 1.0000 condition_record_support_limited 20 36 7 not_provided 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB3 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 36 36 1.0000 condition_record_support_limited 20 36 19 See_cases|not_provided 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB2B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 36 36 1.0000 condition_record_support_limited 20 36 8 not_provided 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC8 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 36 36 1.0000 condition_architecture_interpretable 20 0 18 Bardet-Biedl_syndrome 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 condition_not_provided condition not provided MedGen:C3661900 36 36 1.0000 condition_record_support_limited 20 36 24 not_provided 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM237 mondo_mondo_0013745_medgen_c3280766_omim_614424 Joubert syndrome 14 MONDO:MONDO:0013745,MedGen:C3280766,OMIM:614424 36 36 1.0000 condition_architecture_interpretable 20 0 6 Joubert_syndrome_14 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFB2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 36 36 1.0000 condition_record_support_limited 20 36 18 not_provided 112 compact_adjacent_exon_block_opportunity local_compact_architecture SUFU mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 36 36 1.0000 condition_architecture_interpretable 20 0 16 Hereditary_cancer-predisposing_syndrome 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SRFBP1 condition_not_provided condition not provided MedGen:C3661900 36 36 1.0000 condition_record_support_limited 20 36 12 not_provided 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC4A11 mondo_mondo_0013204_medgen_c2750450_omim_613268_orphanet_98974 Corneal dystrophy, Fuchs endothelial, 4 MONDO:MONDO:0013204,MedGen:C2750450,OMIM:613268,Orphanet:98974 36 36 1.0000 condition_architecture_interpretable 20 0 35 Corneal_dystrophy,_Fuchs_endothelial,_4 179 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RINT1 condition_not_provided condition not provided MedGen:C3661900 36 36 1.0000 condition_record_support_limited 20 36 1 not_provided 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RGS9 condition_not_provided condition not provided MedGen:C3661900 36 36 1.0000 condition_record_support_limited 20 36 4 not_provided 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAF1 mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 36 36 1.0000 condition_architecture_interpretable 20 0 35 RASopathy 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYGM condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 36 36 1.0000 condition_record_support_limited 20 36 32 See_cases|not_provided 294 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKN mondo_mondo_0010820_medgen_c1868675_omim_600116_orphanet_2828 Autosomal recessive juvenile Parkinson disease 2 MONDO:MONDO:0010820,MedGen:C1868675,OMIM:600116,Orphanet:2828 36 36 1.0000 condition_architecture_interpretable 20 0 24 Autosomal_recessive_juvenile_Parkinson_disease_2 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNP mondo_mondo_0013171_medgen_c0268125_omim_613179_orphanet_760 Purine-nucleoside phosphorylase deficiency MONDO:MONDO:0013171,MedGen:C0268125,OMIM:613179,Orphanet:760 36 36 1.0000 condition_architecture_interpretable 20 0 12 Purine-nucleoside_phosphorylase_deficiency 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD2 pkd2_related_disorder PKD2-related disorder . 36 36 1.0000 condition_architecture_interpretable 20 0 25 PKD2-related_disorder 428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3R1 mondo_mondo_0014453_medgen_c4014934_omim_616005_orphanet_397596_orphanet_693681 Immunodeficiency 36 with lymphoproliferation MONDO:MONDO:0014453,MedGen:C4014934,OMIM:616005,Orphanet:397596,Orphanet:693681 36 36 1.0000 condition_architecture_interpretable 20 0 33 Immunodeficiency_36_with_lymphoproliferation 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PALB2 mondo_mondo_0700272_medgen_cn377761 PALB2-related cancer predisposition MONDO:MONDO:0700272,MedGen:CN377761 36 36 1.0000 condition_architecture_interpretable 20 0 36 PALB2-related_cancer_predisposition 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NLRP3 mondo_mondo_0007349_medgen_c4551895_omim_120100_orphanet_47045 Familial cold autoinflammatory syndrome 1 MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100,Orphanet:47045 36 36 1.0000 condition_architecture_interpretable 20 0 36 Familial_cold_autoinflammatory_syndrome_1 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NHLRC1 mondo_mondo_0009697_medgen_c0751783_omim_ps254780_orphanet_501 Lafora disease MONDO:MONDO:0009697,MedGen:C0751783,OMIM:PS254780,Orphanet:501 36 36 1.0000 condition_architecture_interpretable 20 0 9 Lafora_disease 49 single_exon_hotspot_opportunity local_compact_architecture MYCN mondo_mondo_0008115_medgen_c4551774_omim_164280_orphanet_1305_orphanet_391641 Feingold syndrome type 1 MONDO:MONDO:0008115,MedGen:C4551774,OMIM:164280,Orphanet:1305,Orphanet:391641 36 36 1.0000 condition_architecture_interpretable 20 0 11 Feingold_syndrome_type_1 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MOGS mondo_mondo_0011629_medgen_c1853736_omim_606056_orphanet_79330 MOGS-congenital disorder of glycosylation MONDO:MONDO:0011629,MedGen:C1853736,OMIM:606056,Orphanet:79330 36 36 1.0000 condition_architecture_interpretable 20 0 2 MOGS-congenital_disorder_of_glycosylation 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED17 mondo_mondo_0013351_medgen_c3150921_omim_613668_orphanet_402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668,Orphanet:402364 36 36 1.0000 condition_architecture_interpretable 20 0 17 Infantile_cerebral_and_cerebellar_atrophy_with_postnatal_progressive_microcephaly 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED13L human_phenotype_ontology_hp_0031348_mondo_mondo_0019443_medgen_c3531771_omim_608808_orphanet_860 Dextro-looped transposition of the great arteries Human_Phenotype_Ontology:HP:0031348,MONDO:MONDO:0019443,MedGen:C3531771,OMIM:608808,Orphanet:860 36 36 1.0000 condition_architecture_interpretable 20 0 10 Dextro-looped_transposition_of_the_great_arteries 284 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LOX condition_not_provided condition not provided MedGen:C3661900 36 36 1.0000 condition_record_support_limited 20 36 12 not_provided 54 compact_adjacent_exon_block_opportunity local_compact_architecture KMT2D kmt2d_related_disorder KMT2D-related disorder . 36 36 1.0000 condition_architecture_interpretable 20 0 19 KMT2D-related_disorder 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KCNQ4 mondo_mondo_0010817_medgen_c2677637_omim_600101_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 2A MONDO:MONDO:0010817,MedGen:C2677637,OMIM:600101,Orphanet:90635 36 36 1.0000 condition_architecture_interpretable 20 0 11 Autosomal_dominant_nonsyndromic_hearing_loss_2A 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGF1R mondo_mondo_0010038_medgen_c1849157_omim_270450_orphanet_73273 Growth delay due to insulin-like growth factor I resistance MONDO:MONDO:0010038,MedGen:C1849157,OMIM:270450,Orphanet:73273 36 36 1.0000 condition_architecture_interpretable 20 0 8 Growth_delay_due_to_insulin-like_growth_factor_I_resistance 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HADHA mondo_mondo_0958181_medgen_cn376812_omim_609015 Mitochondrial trifunctional protein deficiency 1 MONDO:MONDO:0958181,MedGen:CN376812,OMIM:609015 36 36 1.0000 condition_architecture_interpretable 20 0 35 Mitochondrial_trifunctional_protein_deficiency_1 238 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GYG1 mondo_mondo_0014526_medgen_c4015452_omim_616199_orphanet_456369 Polyglucosan body myopathy type 2 MONDO:MONDO:0014526,MedGen:C4015452,OMIM:616199,Orphanet:456369 36 36 1.0000 condition_architecture_interpretable 20 0 35 Polyglucosan_body_myopathy_type_2 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS mondo_mondo_0012912_medgen_c0033835_omim_612463_orphanet_79445 Pseudopseudohypoparathyroidism MONDO:MONDO:0012912,MedGen:C0033835,OMIM:612463,Orphanet:79445 36 36 1.0000 condition_architecture_interpretable 20 0 28 Pseudopseudohypoparathyroidism 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLRA1 mondo_mondo_0007868_medgen_c4551954_omim_149400_orphanet_3197 Hyperekplexia 1 MONDO:MONDO:0007868,MedGen:C4551954,OMIM:149400,Orphanet:3197 36 36 1.0000 condition_architecture_interpretable 20 0 15 Hyperekplexia_1 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI2 mondo_mondo_0012563_medgen_c1835819_omim_610829_orphanet_2162 Holoprosencephaly 9 MONDO:MONDO:0012563,MedGen:C1835819,OMIM:610829,Orphanet:2162 36 36 1.0000 condition_architecture_interpretable 20 0 24 Holoprosencephaly_9 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GGCX condition_not_provided condition not provided MedGen:C3661900 36 36 1.0000 condition_record_support_limited 20 36 10 not_provided 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALNS condition_not_provided condition not provided MedGen:C3661900 36 36 1.0000 condition_record_support_limited 20 36 31 not_provided 299 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALK1 condition_not_provided condition not provided MedGen:C3661900 36 36 1.0000 condition_record_support_limited 20 36 13 not_provided 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FUS mondo_mondo_0011951_medgen_c2931786_omim_608030_orphanet_275872_orphanet_803 Amyotrophic lateral sclerosis type 6 MONDO:MONDO:0011951,MedGen:C2931786,OMIM:608030,Orphanet:275872,Orphanet:803 36 36 1.0000 condition_architecture_interpretable 20 0 26 Amyotrophic_lateral_sclerosis_type_6 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP mondo_mondo_0011688_medgen_c1847759_omim_606612 Muscular dystrophy-dystroglycanopathy type B5 MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612 36 36 1.0000 condition_architecture_interpretable 20 0 35 Muscular_dystrophy-dystroglycanopathy_type_B5 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETFB mondo_mondo_0009282_medgen_c0268596_omim_231680_orphanet_26791 Multiple acyl-CoA dehydrogenase deficiency MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680,Orphanet:26791 36 36 1.0000 condition_architecture_interpretable 20 0 1 Multiple_acyl-CoA_dehydrogenase_deficiency 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENPP1 mondo_mondo_0013219_medgen_c2750078_omim_613312_orphanet_289176 Hypophosphatemic rickets, autosomal recessive, 2 MONDO:MONDO:0013219,MedGen:C2750078,OMIM:613312,Orphanet:289176 36 36 1.0000 condition_architecture_interpretable 20 0 29 Hypophosphatemic_rickets,_autosomal_recessive,_2 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSPP mondo_mondo_0007441_medgen_c2973527_omim_125490_orphanet_166260 Dentinogenesis imperfecta type 2 MONDO:MONDO:0007441,MedGen:C2973527,OMIM:125490,Orphanet:166260 36 36 1.0000 condition_architecture_interpretable 20 0 6 Dentinogenesis_imperfecta_type_2 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJC21 condition_not_provided condition not provided MedGen:C3661900 36 36 1.0000 condition_record_support_limited 20 36 8 not_provided 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DMD cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 36 36 1.0000 condition_architecture_interpretable 20 0 26 Cardiovascular_phenotype 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DLL1 mondo_mondo_0032877_medgen_c5231470_omim_618709 Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures MONDO:MONDO:0032877,MedGen:C5231470,OMIM:618709 36 36 1.0000 condition_architecture_interpretable 20 0 5 Neurodevelopmental_disorder_with_nonspecific_brain_abnormalities_and_with_or_without_seizures 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DICER1 mondo_mondo_0018445_medgen_c4748924_omim_618272_orphanet_404476 Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome MONDO:MONDO:0018445,MedGen:C4748924,OMIM:618272,Orphanet:404476 36 36 1.0000 condition_architecture_interpretable 20 0 25 Global_developmental_delay_-_lung_cysts_-_overgrowth_-_Wilms_tumor_syndrome 833 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CYBA mondo_mondo_0018305_medgen_c0018203_omim_ps306400_orphanet_379 Chronic granulomatous disease MONDO:MONDO:0018305,MedGen:C0018203,OMIM:PS306400,Orphanet:379 36 36 1.0000 condition_architecture_interpretable 20 0 26 Chronic_granulomatous_disease 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRPPA mondo_mondo_0014474_medgen_c5190987_omim_616052_orphanet_352479 Autosomal recessive limb-girdle muscular dystrophy type 2U MONDO:MONDO:0014474,MedGen:C5190987,OMIM:616052,Orphanet:352479 36 36 1.0000 condition_architecture_interpretable 20 0 35 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2U 57 compact_adjacent_exon_block_opportunity local_compact_architecture COL2A1 mondo_mondo_0008476_medgen_c0700635_omim_184250_orphanet_93346 Spondyloepimetaphyseal dysplasia, Strudwick type MONDO:MONDO:0008476,MedGen:C0700635,OMIM:184250,Orphanet:93346 36 36 1.0000 condition_architecture_interpretable 20 0 27 Spondyloepimetaphyseal_dysplasia,_Strudwick_type 1101 large_gene_or_donor_burden_stress_case donor_burden_stress CLRN1 mondo_mondo_0010170_medgen_c5779850_omim_276902 Usher syndrome type 3A MONDO:MONDO:0010170,MedGen:C5779850,OMIM:276902 36 36 1.0000 condition_architecture_interpretable 20 0 22 Usher_syndrome_type_3A 97 compact_adjacent_exon_block_opportunity local_compact_architecture CHEK2 mondo_mondo_0002629_medgen_c0585442_omim_259500_orphanet_668 Bone osteosarcoma MONDO:MONDO:0002629,MedGen:C0585442,OMIM:259500,Orphanet:668 36 36 1.0000 condition_architecture_interpretable 20 0 35 Bone_osteosarcoma 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CDH23 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 36 36 1.0000 condition_architecture_interpretable 20 0 26 Rare_genetic_deafness 725 large_gene_or_donor_burden_stress_case donor_burden_stress CDCA7L human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 36 36 1.0000 condition_architecture_interpretable 20 0 3 Primary_ciliary_dyskinesia 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C10ORF105 condition_not_provided condition not provided MedGen:C3661900 36 36 1.0000 condition_record_support_limited 20 36 14 not_provided 65 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture BMP1 condition_not_provided condition not provided MedGen:C3661900 36 36 1.0000 condition_record_support_limited 20 36 5 not_provided 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BLTP1 mondo_mondo_0060631_medgen_c4693347_omim_617822_orphanet_610569 Alkuraya-Kucinskas syndrome MONDO:MONDO:0060631,MedGen:C4693347,OMIM:617822,Orphanet:610569 36 36 1.0000 condition_architecture_interpretable 20 0 2 Alkuraya-Kucinskas_syndrome 53 large_gene_or_donor_burden_stress_case donor_burden_stress BCL11B mondo_mondo_0060763_medgen_c4748152_omim_618092_orphanet_662829 Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities MONDO:MONDO:0060763,MedGen:C4748152,OMIM:618092,Orphanet:662829 36 36 1.0000 condition_architecture_interpretable 20 0 6 Intellectual_developmental_disorder_with_speech_delay,_dysmorphic_facies,_and_t-cell_abnormalities 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AXDND1 mondo_mondo_0010974_medgen_c1868672_omim_600995_orphanet_656 Nephrotic syndrome, type 2 MONDO:MONDO:0010974,MedGen:C1868672,OMIM:600995,Orphanet:656 36 36 1.0000 condition_architecture_interpretable 20 0 22 Nephrotic_syndrome,_type_2 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASH1L condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 36 36 1.0000 condition_record_support_limited 20 36 9 not_provided 99 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARSG condition_not_provided condition not provided MedGen:C3661900 36 36 1.0000 condition_record_support_limited 20 36 4 not_provided 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARL6 mondo_mondo_0013312_medgen_c3150808_omim_613575_orphanet_791 Retinitis pigmentosa 55 MONDO:MONDO:0013312,MedGen:C3150808,OMIM:613575,Orphanet:791 36 36 1.0000 condition_architecture_interpretable 20 0 34 Retinitis_pigmentosa_55 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANK2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 36 36 1.0000 condition_record_support_limited 20 36 6 See_cases|not_provided 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALG8 mondo_mondo_0054743_medgen_c4693472_omim_617874 Polycystic liver disease 3 with or without kidney cysts MONDO:MONDO:0054743,MedGen:C4693472,OMIM:617874 36 36 1.0000 condition_architecture_interpretable 20 0 33 Polycystic_liver_disease_3_with_or_without_kidney_cysts 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 mondo_mondo_0100084_medgen_cn295279 Alpha-actinopathy MONDO:MONDO:0100084,MedGen:CN295279 36 36 1.0000 condition_architecture_interpretable 20 0 30 Alpha-actinopathy 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABAT mondo_mondo_0013166_medgen_c0342708_omim_613163_orphanet_2066 Gamma-aminobutyric acid transaminase deficiency MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163,Orphanet:2066 36 36 1.0000 condition_architecture_interpretable 20 0 1 Gamma-aminobutyric_acid_transaminase_deficiency 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF142 mondo_mondo_0032741_medgen_c5193088_omim_618425 Neurodevelopmental disorder with impaired speech and hyperkinetic movements MONDO:MONDO:0032741,MedGen:C5193088,OMIM:618425 35 35 1.0000 condition_architecture_interpretable 20 0 8 Neurodevelopmental_disorder_with_impaired_speech_and_hyperkinetic_movements 43 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture VPS13B vps13b_related_disorder VPS13B-related disorder . 35 35 1.0000 condition_architecture_interpretable 20 0 29 VPS13B-related_disorder 996 large_gene_or_donor_burden_stress_case donor_burden_stress TRAF3IP1 condition_not_provided condition not provided MedGen:C3661900 35 35 1.0000 condition_record_support_limited 20 35 3 not_provided 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM70 mondo_mondo_0013546_medgen_c3279699_omim_614052_orphanet_1194 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MONDO:MONDO:0013546,MedGen:C3279699,OMIM:614052,Orphanet:1194 35 35 1.0000 condition_architecture_interpretable 20 0 6 Mitochondrial_complex_V_(ATP_synthase)_deficiency,_nuclear_type_2 38 compact_adjacent_exon_block_opportunity local_compact_architecture TECTA mondo_mondo_0011351_medgen_c1863655_omim_603629_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 21 MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629,Orphanet:90636 35 35 1.0000 condition_architecture_interpretable 20 0 17 Autosomal_recessive_nonsyndromic_hearing_loss_21 123 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCTN1 mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 Meckel-Gruber syndrome MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 35 35 1.0000 condition_architecture_interpretable 20 0 35 Meckel-Gruber_syndrome 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCTN1 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 35 35 1.0000 condition_architecture_interpretable 20 0 35 Joubert_syndrome 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX20 condition_not_provided condition not provided MedGen:C3661900 35 35 1.0000 condition_record_support_limited 20 35 5 not_provided 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TANGO2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 35 35 1.0000 condition_record_support_limited 20 35 12 not_provided 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SRY mondo_mondo_0020712_medgen_c2748896_omim_400044_orphanet_242 46,XY sex reversal 1 MONDO:MONDO:0020712,MedGen:C2748896,OMIM:400044,Orphanet:242 35 35 1.0000 condition_architecture_interpretable 20 0 3 46,XY_sex_reversal_1 42 single_exon_hotspot_opportunity local_compact_architecture SMN1 condition_not_provided condition not provided MedGen:C3661900 35 35 1.0000 condition_record_support_limited 20 35 13 not_provided 79 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation SLC52A2 mondo_mondo_0013867_medgen_c3553538_omim_614707_orphanet_572550_orphanet_97229 Brown-Vialetto-van Laere syndrome 2 MONDO:MONDO:0013867,MedGen:C3553538,OMIM:614707,Orphanet:572550,Orphanet:97229 35 35 1.0000 condition_architecture_interpretable 20 0 12 Brown-Vialetto-van_Laere_syndrome_2 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD1B condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 35 35 1.0000 condition_record_support_limited 20 35 10 See_cases|not_provided 95 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SERPINC1 condition_not_provided condition not provided MedGen:C3661900 35 35 1.0000 condition_record_support_limited 20 35 22 not_provided 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SELENON condition_not_provided condition not provided .|MedGen:C3661900 35 35 1.0000 condition_record_support_limited 20 35 29 See_cases|not_provided 112 compact_adjacent_exon_block_opportunity local_compact_architecture SCN9A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 35 35 1.0000 condition_record_support_limited 20 35 25 not_provided|not_specified 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RPL11 human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Diamond-Blackfan anemia Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 35 35 1.0000 condition_architecture_interpretable 20 0 8 Diamond-Blackfan_anemia 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ROBO3 mondo_mondo_0020790_medgen_c4551964_omim_607313_orphanet_2744 Gaze palsy, familial horizontal, with progressive scoliosis 1 MONDO:MONDO:0020790,MedGen:C4551964,OMIM:607313,Orphanet:2744 35 35 1.0000 condition_architecture_interpretable 20 0 3 Gaze_palsy,_familial_horizontal,_with_progressive_scoliosis_1 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRMT7 mondo_mondo_0014944_medgen_c4310689_omim_617157_orphanet_464288 Short stature-brachydactyly-obesity-global developmental delay syndrome MONDO:MONDO:0014944,MedGen:C4310689,OMIM:617157,Orphanet:464288 35 35 1.0000 condition_architecture_interpretable 20 0 7 Short_stature-brachydactyly-obesity-global_developmental_delay_syndrome 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POR mondo_mondo_0008726_medgen_c3150099_omim_201750_orphanet_63269 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis MONDO:MONDO:0008726,MedGen:C3150099,OMIM:201750,Orphanet:63269 35 35 1.0000 condition_architecture_interpretable 20 0 29 Antley-Bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POC1B condition_not_provided condition not provided MedGen:C3661900 35 35 1.0000 condition_record_support_limited 20 35 10 not_provided 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF6 mondo_mondo_0010537_medgen_c0265339_omim_301900_orphanet_127 Borjeson-Forssman-Lehmann syndrome MONDO:MONDO:0010537,MedGen:C0265339,OMIM:301900,Orphanet:127 35 35 1.0000 condition_architecture_interpretable 20 0 6 Borjeson-Forssman-Lehmann_syndrome 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6B human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 35 35 1.0000 condition_architecture_interpretable 20 0 28 Retinitis_pigmentosa 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCARE human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 35 35 1.0000 condition_architecture_interpretable 20 0 21 Retinal_dystrophy 151 compact_adjacent_exon_block_opportunity local_compact_architecture PAPSS2 mondo_mondo_0019666_medgen_c2748516_omim_612847_orphanet_93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type MONDO:MONDO:0019666,MedGen:C2748516,OMIM:612847,Orphanet:93282 35 35 1.0000 condition_architecture_interpretable 20 0 6 Spondyloepimetaphyseal_dysplasia,_PAPSS2_type 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPHN1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 35 35 1.0000 condition_record_support_limited 20 35 5 not_provided 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA3 mondo_mondo_0009787_medgen_c0574084_omim_258501_orphanet_67047 3-Methylglutaconic aciduria type 3 MONDO:MONDO:0009787,MedGen:C0574084,OMIM:258501,Orphanet:67047 35 35 1.0000 condition_architecture_interpretable 20 0 15 3-Methylglutaconic_aciduria_type_3 38 compact_adjacent_exon_block_opportunity local_compact_architecture OBSCN condition_not_provided condition not provided MedGen:C3661900 35 35 1.0000 condition_record_support_limited 20 35 2 not_provided 55 large_gene_or_donor_burden_stress_case donor_burden_stress NR3C2 mondo_mondo_0008329_medgen_c1449842_omim_177735_orphanet_171871_orphanet_756 Autosomal dominant pseudohypoaldosteronism type 1 MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756 35 35 1.0000 condition_architecture_interpretable 20 0 9 Autosomal_dominant_pseudohypoaldosteronism_type_1 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSH6 msh6_related_disorder MSH6-related disorder . 35 35 1.0000 condition_architecture_interpretable 20 0 33 MSH6-related_disorder 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MICU1 condition_not_provided condition not provided MedGen:C3661900 35 35 1.0000 condition_record_support_limited 20 35 9 not_provided 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCCC1 condition_not_provided condition not provided MedGen:C3661900 35 35 1.0000 condition_record_support_limited 20 35 31 not_provided 203 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LPL human_phenotype_ontology_hp_0008158_mondo_mondo_0007759_medgen_c0020474_omim_144250 Hyperlipidemia, familial combined, LPL related Human_Phenotype_Ontology:HP:0008158,MONDO:MONDO:0007759,MedGen:C0020474,OMIM:144250 35 35 1.0000 condition_architecture_interpretable 20 0 27 Hyperlipidemia,_familial_combined,_LPL_related 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IBA57 mondo_mondo_0014132_medgen_c3809165_omim_615330_orphanet_363424 Multiple mitochondrial dysfunctions syndrome 3 MONDO:MONDO:0014132,MedGen:C3809165,OMIM:615330,Orphanet:363424 35 35 1.0000 condition_architecture_interpretable 20 0 24 Multiple_mitochondrial_dysfunctions_syndrome_3 38 compact_adjacent_exon_block_opportunity local_compact_architecture HIBCH human_phenotype_ontology_hp_6000215_mondo_mondo_0009603_medgen_c0342738_omim_250620_orphanet_88639 3-hydroxyisobutyryl-CoA hydrolase deficiency Human_Phenotype_Ontology:HP:6000215,MONDO:MONDO:0009603,MedGen:C0342738,OMIM:250620,Orphanet:88639 35 35 1.0000 condition_architecture_interpretable 20 0 12 3-hydroxyisobutyryl-CoA_hydrolase_deficiency 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HFE mondo_mondo_0006507_medgen_c0392514_omim_ps235200 Hereditary hemochromatosis MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200 35 35 1.0000 condition_architecture_interpretable 20 0 10 Hereditary_hemochromatosis 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HBA1 mondo_mondo_0054802_medgen_c4693823_omim_617981 Erythrocytosis, familial, 7 MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981 35 35 1.0000 condition_architecture_interpretable 20 0 35 Erythrocytosis,_familial,_7 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation GYG1 mondo_mondo_0013291_medgen_c3150754_omim_613507_orphanet_263297 Glycogen storage disease XV MONDO:MONDO:0013291,MedGen:C3150754,OMIM:613507,Orphanet:263297 35 35 1.0000 condition_architecture_interpretable 20 0 35 Glycogen_storage_disease_XV 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GTPBP3 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 35 35 1.0000 condition_record_support_limited 20 35 6 See_cases|not_provided 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPR179 condition_not_provided condition not provided MedGen:C3661900 35 35 1.0000 condition_record_support_limited 20 35 9 not_provided 45 compact_adjacent_exon_block_opportunity local_compact_architecture GCK human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Type 2 diabetes mellitus Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 35 35 1.0000 condition_architecture_interpretable 20 0 35 Type_2_diabetes_mellitus 655 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALNT3 mondo_mondo_0100252_medgen_c4692564_omim_211900_orphanet_53715 Tumoral calcinosis, hyperphosphatemic, familial, 1 MONDO:MONDO:0100252,MedGen:C4692564,OMIM:211900,Orphanet:53715 35 35 1.0000 condition_architecture_interpretable 20 0 20 Tumoral_calcinosis,_hyperphosphatemic,_familial,_1 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRA1 mondo_mondo_0012627_medgen_c4013473_omim_611136_orphanet_307_orphanet_64280 Epilepsy, idiopathic generalized, susceptibility to, 13 MONDO:MONDO:0012627,MedGen:C4013473,OMIM:611136,Orphanet:307,Orphanet:64280 35 35 1.0000 condition_architecture_interpretable 20 0 31 Epilepsy,_idiopathic_generalized,_susceptibility_to,_13 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 35 35 1.0000 condition_record_support_limited 20 35 6 See_cases|not_provided 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFNB1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 35 35 1.0000 condition_record_support_limited 20 35 9 not_provided 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAH9 mondo_mondo_0032664_medgen_c4749028_omim_618300 Ciliary dyskinesia, primary, 40 MONDO:MONDO:0032664,MedGen:C4749028,OMIM:618300 35 35 1.0000 condition_architecture_interpretable 20 0 15 Ciliary_dyskinesia,_primary,_40 157 large_gene_or_donor_burden_stress_case donor_burden_stress DGKE mondo_mondo_0016244_medgen_c2931788_orphanet_2134 Atypical hemolytic-uremic syndrome MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134 35 35 1.0000 condition_architecture_interpretable 20 0 14 Atypical_hemolytic-uremic_syndrome 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DBT mondo_mondo_0023691_medgen_c1855369_omim_248600 Maple syrup urine disease type 1A MONDO:MONDO:0023691,MedGen:C1855369,OMIM:248600 35 35 1.0000 condition_architecture_interpretable 20 0 27 Maple_syrup_urine_disease_type_1A 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP1B1 mondo_mondo_0800472_medgen_cn375931 CYP1B1-related glaucoma with or without anterior segment dysgenesis MONDO:MONDO:0800472,MedGen:CN375931 35 35 1.0000 condition_architecture_interpretable 20 0 32 CYP1B1-related_glaucoma_with_or_without_anterior_segment_dysgenesis 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL4B gene_114890_mondo_mondo_0010306_medgen_c1845861_omim_300354_orphanet_85289_orphanet_85293 X-linked intellectual disability Cabezas type Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354,Orphanet:85289,Orphanet:85293 35 35 1.0000 condition_architecture_interpretable 20 0 5 X-linked_intellectual_disability_Cabezas_type 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRB1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 35 35 1.0000 condition_architecture_interpretable 20 0 15 Retinitis_pigmentosa 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COX15 condition_not_provided condition not provided MedGen:C3661900 35 35 1.0000 condition_record_support_limited 20 35 7 not_provided 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL1A2 col1a2_related_disorder COL1A2-related disorder . 35 35 1.0000 condition_architecture_interpretable 20 0 25 COL1A2-related_disorder 722 large_gene_or_donor_burden_stress_case donor_burden_stress CNGA1 mondo_mondo_0013405_medgen_c3151059_omim_613756_orphanet_791 Retinitis pigmentosa 49 MONDO:MONDO:0013405,MedGen:C3151059,OMIM:613756,Orphanet:791 35 35 1.0000 condition_architecture_interpretable 20 0 22 Retinitis_pigmentosa_49 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHD3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 35 35 1.0000 condition_record_support_limited 20 35 16 not_provided 122 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CEP152 mondo_mondo_0013923_medgen_c3553886_omim_614852_orphanet_2512 Microcephaly 9, primary, autosomal recessive MONDO:MONDO:0013923,MedGen:C3553886,OMIM:614852,Orphanet:2512 35 35 1.0000 condition_architecture_interpretable 20 0 27 Microcephaly_9,_primary,_autosomal_recessive 142 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CD36 mondo_mondo_0012031_medgen_c1842090_omim_608404 Platelet-type bleeding disorder 10 MONDO:MONDO:0012031,MedGen:C1842090,OMIM:608404 35 35 1.0000 condition_architecture_interpretable 20 0 15 Platelet-type_bleeding_disorder_10 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CANT1 condition_not_provided condition not provided MedGen:C3661900 35 35 1.0000 condition_record_support_limited 20 35 13 not_provided 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C17ORF107 mondo_mondo_0012157_medgen_c1837091_omim_608931_orphanet_590 Congenital myasthenic syndrome 4C MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orphanet:590 35 35 1.0000 condition_architecture_interpretable 20 0 31 Congenital_myasthenic_syndrome_4C 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA2 human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 35 35 1.0000 condition_architecture_interpretable 20 0 31 Breast_carcinoma 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 35 35 1.0000 condition_architecture_interpretable 20 0 32 Gastric_cancer 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BCKDHA condition_not_provided condition not provided MedGen:C3661900 35 35 1.0000 condition_record_support_limited 20 35 31 not_provided 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BAG3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 35 35 1.0000 condition_record_support_limited 20 35 23 not_provided 154 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APC human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Hepatocellular carcinoma Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 35 35 1.0000 condition_architecture_interpretable 20 0 34 Hepatocellular_carcinoma 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ALMS1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 35 35 1.0000 condition_architecture_interpretable 20 0 26 Retinal_dystrophy 999 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AIRE condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 35 35 1.0000 condition_record_support_limited 20 35 30 not_provided 227 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFG3L2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 35 35 1.0000 condition_record_support_limited 20 35 15 not_provided 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRV1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 35 35 1.0000 condition_architecture_interpretable 20 0 20 Retinal_dystrophy 650 large_gene_or_donor_burden_stress_case donor_burden_stress ACTG1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 35 35 1.0000 condition_record_support_limited 20 35 19 See_cases|not_provided|not_specified 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF469 mondo_mondo_0024543_medgen_c0268344_omim_229200_orphanet_90354 Brittle cornea syndrome 1 MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354 34 34 1.0000 condition_architecture_interpretable 20 0 11 Brittle_cornea_syndrome_1 197 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZMYM2 condition_not_provided condition not provided MedGen:C3661900 34 34 1.0000 condition_record_support_limited 20 34 10 not_provided 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB18 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 34 34 1.0000 condition_record_support_limited 20 34 16 not_provided 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A9 mondo_mondo_0007745_medgen_c0017551_omim_143500 Gilbert syndrome MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500 34 34 1.0000 condition_architecture_interpretable 20 0 30 Gilbert_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A8 mondo_mondo_0007745_medgen_c0017551_omim_143500 Gilbert syndrome MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500 34 34 1.0000 condition_architecture_interpretable 20 0 30 Gilbert_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A7 mondo_mondo_0007745_medgen_c0017551_omim_143500 Gilbert syndrome MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500 34 34 1.0000 condition_architecture_interpretable 20 0 30 Gilbert_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A6 mondo_mondo_0007745_medgen_c0017551_omim_143500 Gilbert syndrome MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500 34 34 1.0000 condition_architecture_interpretable 20 0 30 Gilbert_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A5 mondo_mondo_0007745_medgen_c0017551_omim_143500 Gilbert syndrome MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500 34 34 1.0000 condition_architecture_interpretable 20 0 30 Gilbert_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A4 mondo_mondo_0007745_medgen_c0017551_omim_143500 Gilbert syndrome MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500 34 34 1.0000 condition_architecture_interpretable 20 0 30 Gilbert_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A3 mondo_mondo_0007745_medgen_c0017551_omim_143500 Gilbert syndrome MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500 34 34 1.0000 condition_architecture_interpretable 20 0 30 Gilbert_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A10 mondo_mondo_0007745_medgen_c0017551_omim_143500 Gilbert syndrome MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500 34 34 1.0000 condition_architecture_interpretable 20 0 30 Gilbert_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A1 mondo_mondo_0007745_medgen_c0017551_omim_143500 Gilbert syndrome MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500 34 34 1.0000 condition_architecture_interpretable 20 0 30 Gilbert_syndrome 80 compact_adjacent_exon_block_opportunity local_compact_architecture TTC7A mondo_mondo_0800030_medgen_c5968858_omim_243150_orphanet_436252 Gastrointestinal defects and immunodeficiency syndrome 1 MONDO:MONDO:0800030,MedGen:C5968858,OMIM:243150,Orphanet:436252 34 34 1.0000 condition_architecture_interpretable 20 0 22 Gastrointestinal_defects_and_immunodeficiency_syndrome_1 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPM1 mondo_mondo_0013183_medgen_c2750747_omim_613216_orphanet_215 Congenital stationary night blindness 1C MONDO:MONDO:0013183,MedGen:C2750747,OMIM:613216,Orphanet:215 34 34 1.0000 condition_architecture_interpretable 20 0 15 Congenital_stationary_night_blindness_1C 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNT2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 34 34 1.0000 condition_record_support_limited 20 34 24 not_provided 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPTBN1 mondo_mondo_0859178_medgen_c5561957_omim_619475 Developmental delay, impaired speech, and behavioral abnormalities MONDO:MONDO:0859178,MedGen:C5561957,OMIM:619475 34 34 1.0000 condition_architecture_interpretable 20 0 3 Developmental_delay,_impaired_speech,_and_behavioral_abnormalities 59 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SKIC3 mondo_mondo_0024541_medgen_c4551982_omim_222470_orphanet_84064 Trichohepatoenteric syndrome 1 MONDO:MONDO:0024541,MedGen:C4551982,OMIM:222470,Orphanet:84064 34 34 1.0000 condition_architecture_interpretable 20 0 21 Trichohepatoenteric_syndrome_1 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPING1 mondo_mondo_0033946_medgen_c4552294_orphanet_528623 Hereditary angioedema with C1Inh deficiency MONDO:MONDO:0033946,MedGen:C4552294,Orphanet:528623 34 34 1.0000 condition_architecture_interpretable 20 0 5 Hereditary_angioedema_with_C1Inh_deficiency 374 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIT1 mondo_mondo_0014143_medgen_c3809233_omim_615355_orphanet_648 Noonan syndrome 8 MONDO:MONDO:0014143,MedGen:C3809233,OMIM:615355,Orphanet:648 34 34 1.0000 condition_architecture_interpretable 20 0 29 Noonan_syndrome_8 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RHO human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 34 34 1.0000 condition_architecture_interpretable 20 0 30 Retinitis_pigmentosa 198 compact_adjacent_exon_block_opportunity local_compact_architecture RET mondo_mondo_0007723_medgen_c3888239_omim_142623_orphanet_388 Hirschsprung disease, susceptibility to, 1 MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388 34 34 1.0000 condition_architecture_interpretable 20 0 25 Hirschsprung_disease,_susceptibility_to,_1 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RELA condition_not_provided condition not provided MedGen:C3661900 34 34 1.0000 condition_record_support_limited 20 34 5 not_provided 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPH2 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 34 34 1.0000 condition_architecture_interpretable 20 0 33 Retinitis_pigmentosa 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRG4 mondo_mondo_0008828_medgen_c1859690_omim_208250_orphanet_2848 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome MONDO:MONDO:0008828,MedGen:C1859690,OMIM:208250,Orphanet:2848 34 34 1.0000 condition_architecture_interpretable 20 0 4 Camptodactyly-arthropathy-coxa_vara-pericarditis_syndrome 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRF1 mondo_mondo_0011508_medgen_c4721532_omim_605027 Lymphoma, non-Hodgkin, familial MONDO:MONDO:0011508,MedGen:C4721532,OMIM:605027 34 34 1.0000 condition_architecture_interpretable 20 0 34 Lymphoma,_non-Hodgkin,_familial 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PORCN mondo_mondo_0010592_medgen_c0016395_omim_305600_orphanet_2092 Focal dermal hypoplasia MONDO:MONDO:0010592,MedGen:C0016395,OMIM:305600,Orphanet:2092 34 34 1.0000 condition_architecture_interpretable 20 0 9 Focal_dermal_hypoplasia 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT2 condition_not_provided condition not provided MedGen:C3661900 34 34 1.0000 condition_record_support_limited 20 34 20 not_provided 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLS3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 34 34 1.0000 condition_record_support_limited 20 34 2 not_provided|not_specified 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PGAP1 mondo_mondo_0014348_medgen_c4014343_omim_615802_orphanet_88616 Intellectual disability, autosomal recessive 42 MONDO:MONDO:0014348,MedGen:C4014343,OMIM:615802,Orphanet:88616 34 34 1.0000 condition_architecture_interpretable 20 0 6 Intellectual_disability,_autosomal_recessive_42 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX6 condition_not_provided condition not provided .|MedGen:C3661900 34 34 1.0000 condition_record_support_limited 20 34 29 See_cases|not_provided 301 compact_adjacent_exon_block_opportunity local_compact_architecture PEX16 mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 Peroxisome biogenesis disorder MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 34 34 1.0000 condition_architecture_interpretable 20 0 3 Peroxisome_biogenesis_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCARE mondo_mondo_0013263_medgen_c3150691_omim_613428_orphanet_791 Retinitis pigmentosa 54 MONDO:MONDO:0013263,MedGen:C3150691,OMIM:613428,Orphanet:791 34 34 1.0000 condition_architecture_interpretable 20 0 22 Retinitis_pigmentosa_54 151 compact_adjacent_exon_block_opportunity local_compact_architecture OBSL1 condition_not_provided condition not provided MedGen:C3661900 34 34 1.0000 condition_record_support_limited 20 34 9 not_provided 73 compact_adjacent_exon_block_opportunity local_compact_architecture NR4A2 mondo_mondo_0859257_medgen_c5677001_omim_619911_orphanet_660017 Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism MONDO:MONDO:0859257,MedGen:C5677001,OMIM:619911,Orphanet:660017 34 34 1.0000 condition_architecture_interpretable 20 0 1 Intellectual_developmental_disorder_with_language_impairment_and_early-onset_DOPA-responsive_dystonia-parkinsonism 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR2F1-AS1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 34 34 1.0000 condition_record_support_limited 20 34 8 See_cases|not_provided|not_specified 79 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture NFKB1 mondo_mondo_0014697_medgen_c4225277_omim_616576_orphanet_1572_orphanet_696874 Immunodeficiency, common variable, 12 MONDO:MONDO:0014697,MedGen:C4225277,OMIM:616576,Orphanet:1572,Orphanet:696874 34 34 1.0000 condition_architecture_interpretable 20 0 12 Immunodeficiency,_common_variable,_12 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEFL mondo_mondo_0011894_medgen_c1843225_omim_607684_orphanet_99939 Charcot-Marie-Tooth disease type 2E MONDO:MONDO:0011894,MedGen:C1843225,OMIM:607684,Orphanet:99939 34 34 1.0000 condition_architecture_interpretable 20 0 15 Charcot-Marie-Tooth_disease_type_2E 51 compact_adjacent_exon_block_opportunity local_compact_architecture NCAPH2 condition_not_provided condition not provided MedGen:C3661900 34 34 1.0000 condition_record_support_limited 20 34 14 not_provided 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MVK condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 34 34 1.0000 condition_record_support_limited 20 34 31 not_provided|not_specified 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPDZ mondo_mondo_0014085_medgen_c3554691_omim_615219_orphanet_2185 Hydrocephalus, nonsyndromic, autosomal recessive 2 MONDO:MONDO:0014085,MedGen:C3554691,OMIM:615219,Orphanet:2185 34 34 1.0000 condition_architecture_interpretable 20 0 15 Hydrocephalus,_nonsyndromic,_autosomal_recessive_2 131 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MID1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 34 34 1.0000 condition_record_support_limited 20 34 7 not_provided 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFSD8 condition_not_provided condition not provided MedGen:C3661900 34 34 1.0000 condition_record_support_limited 20 34 27 not_provided 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEF2C condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 34 34 1.0000 condition_record_support_limited 20 34 13 not_provided|not_specified 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED12 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 34 34 1.0000 condition_record_support_limited 20 34 16 See_cases|not_provided 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LRRC56 mondo_mondo_0009026_medgen_c0587248_omim_218040_orphanet_3071 Costello syndrome MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071 34 34 1.0000 condition_architecture_interpretable 20 0 21 Costello_syndrome 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRP5 mondo_mondo_0011151_medgen_c1866176_omim_601813_orphanet_891 Exudative vitreoretinopathy 4 MONDO:MONDO:0011151,MedGen:C1866176,OMIM:601813,Orphanet:891 34 34 1.0000 condition_architecture_interpretable 20 0 22 Exudative_vitreoretinopathy_4 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMP2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 34 34 1.0000 condition_record_support_limited 20 34 19 not_provided 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 34 34 1.0000 condition_architecture_interpretable 20 0 26 RASopathy 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNA1 mondo_mondo_0008047_medgen_c1719788_omim_160120_orphanet_37612_orphanet_972 Episodic ataxia type 1 MONDO:MONDO:0008047,MedGen:C1719788,OMIM:160120,Orphanet:37612,Orphanet:972 34 34 1.0000 condition_architecture_interpretable 20 0 13 Episodic_ataxia_type_1 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IRF6 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 34 34 1.0000 condition_record_support_limited 20 34 14 not_provided 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGF1R condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 34 34 1.0000 condition_record_support_limited 20 34 8 not_provided 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS mondo_mondo_0009026_medgen_c0587248_omim_218040_orphanet_3071 Costello syndrome MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071 34 34 1.0000 condition_architecture_interpretable 20 0 21 Costello_syndrome 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMGCL mondo_mondo_0012173_medgen_c3711645_omim_609016_orphanet_5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:MONDO:0012173,MedGen:C3711645,OMIM:609016,Orphanet:5 34 34 1.0000 condition_architecture_interpretable 20 0 27 Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HERC1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 34 34 1.0000 condition_record_support_limited 20 34 2 See_cases|not_provided 50 large_gene_or_donor_burden_stress_case donor_burden_stress GRIA2 mondo_mondo_0030060_medgen_c5394502_omim_618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities MONDO:MONDO:0030060,MedGen:C5394502,OMIM:618917 34 34 1.0000 condition_architecture_interpretable 20 0 4 Neurodevelopmental_disorder_with_language_impairment_and_behavioral_abnormalities 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPC3 mondo_mondo_0008679_medgen_cn033288_omim_194070_orphanet_654 Wilms tumor 1 MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070,Orphanet:654 34 34 1.0000 condition_architecture_interpretable 20 0 9 Wilms_tumor_1 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNPAT condition_not_provided condition not provided MedGen:C3661900 34 34 1.0000 condition_record_support_limited 20 34 11 not_provided 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLMN mondo_mondo_0007672_medgen_c1841984_omim_138000_orphanet_83454 Glomuvenous malformation MONDO:MONDO:0007672,MedGen:C1841984,OMIM:138000,Orphanet:83454 34 34 1.0000 condition_architecture_interpretable 20 0 10 Glomuvenous_malformation 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 gjb2_related_disorder GJB2-related disorder . 34 34 1.0000 condition_architecture_interpretable 20 0 34 GJB2-related_disorder 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FREM1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 34 34 1.0000 condition_record_support_limited 20 34 8 not_provided 71 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FAS condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 34 34 1.0000 condition_record_support_limited 20 34 15 not_provided 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F2 mondo_mondo_0013361_medgen_c0272317_omim_613679_orphanet_325 Congenital prothrombin deficiency MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325 34 34 1.0000 condition_architecture_interpretable 20 0 8 Congenital_prothrombin_deficiency 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA1 mondo_mondo_0011258_medgen_c1865143_omim_602588 Branchiootic syndrome 1 MONDO:MONDO:0011258,MedGen:C1865143,OMIM:602588 34 34 1.0000 condition_architecture_interpretable 20 0 20 Branchiootic_syndrome_1 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2B5 mondo_mondo_0957873_medgen_c5779973_omim_620315 Leukoencephalopathy with vanishing white matter 5 MONDO:MONDO:0957873,MedGen:C5779973,OMIM:620315 34 34 1.0000 condition_architecture_interpretable 20 0 19 Leukoencephalopathy_with_vanishing_white_matter_5 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOCK6 mondo_mondo_0013635_medgen_c3280182_omim_614219_orphanet_974 Adams-Oliver syndrome 2 MONDO:MONDO:0013635,MedGen:C3280182,OMIM:614219,Orphanet:974 34 34 1.0000 condition_architecture_interpretable 20 0 14 Adams-Oliver_syndrome_2 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DHDDS mondo_mondo_0013468_medgen_c3151227_omim_613861_orphanet_791 Retinitis pigmentosa 59 MONDO:MONDO:0013468,MedGen:C3151227,OMIM:613861,Orphanet:791 34 34 1.0000 condition_architecture_interpretable 20 0 12 Retinitis_pigmentosa_59 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRX condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 34 34 1.0000 condition_record_support_limited 20 34 27 See_cases|not_provided 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ4 mondo_mondo_0014562_medgen_c5568562_omim_616276_orphanet_457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome MONDO:MONDO:0014562,MedGen:C5568562,OMIM:616276,Orphanet:457185 34 34 1.0000 condition_architecture_interpretable 20 0 11 Neonatal_encephalomyopathy-cardiomyopathy-respiratory_distress_syndrome 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL1A2 mondo_mondo_0009159_medgen_c4303789_omim_225320_orphanet_230851 Ehlers-Danlos syndrome, cardiac valvular type MONDO:MONDO:0009159,MedGen:C4303789,OMIM:225320,Orphanet:230851 34 34 1.0000 condition_architecture_interpretable 20 0 26 Ehlers-Danlos_syndrome,_cardiac_valvular_type 722 large_gene_or_donor_burden_stress_case donor_burden_stress COL12A1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 34 34 1.0000 condition_record_support_limited 20 34 16 not_provided 132 large_gene_or_donor_burden_stress_case donor_burden_stress CNGB1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 34 34 1.0000 condition_architecture_interpretable 20 0 23 Retinitis_pigmentosa 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRND mondo_mondo_0009668_medgen_c1854678_omim_253290_orphanet_33108 Lethal multiple pterygium syndrome MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108 34 34 1.0000 condition_architecture_interpretable 20 0 13 Lethal_multiple_pterygium_syndrome 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCDC88C mondo_mondo_0009360_medgen_c3887608_omim_236600_orphanet_2185 Hydrocephalus, nonsyndromic, autosomal recessive 1 MONDO:MONDO:0009360,MedGen:C3887608,OMIM:236600,Orphanet:2185 34 34 1.0000 condition_architecture_interpretable 20 0 28 Hydrocephalus,_nonsyndromic,_autosomal_recessive_1 113 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CASQ2 mondo_mondo_0012762_medgen_c2677794_omim_611938_orphanet_3286 Catecholaminergic polymorphic ventricular tachycardia 2 MONDO:MONDO:0012762,MedGen:C2677794,OMIM:611938,Orphanet:3286 34 34 1.0000 condition_architecture_interpretable 20 0 24 Catecholaminergic_polymorphic_ventricular_tachycardia_2 79 compact_adjacent_exon_block_opportunity local_compact_architecture BRWD3 mondo_mondo_0010393_medgen_c1970841_omim_300659 Intellectual disability, X-linked 93 MONDO:MONDO:0010393,MedGen:C1970841,OMIM:300659 34 34 1.0000 condition_architecture_interpretable 20 0 2 Intellectual_disability,_X-linked_93 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BRCA2 human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Ovarian neoplasm Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 34 34 1.0000 condition_architecture_interpretable 20 0 26 Ovarian_neoplasm 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATP7B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 34 34 1.0000 condition_architecture_interpretable 20 0 33 Inborn_genetic_diseases 858 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V0A4 condition_not_provided condition not provided MedGen:C3661900 34 34 1.0000 condition_record_support_limited 20 34 19 not_provided 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2B2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 34 34 1.0000 condition_record_support_limited 20 34 3 not_provided|not_specified 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARL13B mondo_mondo_0012855_medgen_c2676771_omim_612291_orphanet_475 Joubert syndrome 8 MONDO:MONDO:0012855,MedGen:C2676771,OMIM:612291,Orphanet:475 34 34 1.0000 condition_architecture_interpretable 20 0 6 Joubert_syndrome_8 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP3B2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 34 34 1.0000 condition_record_support_limited 20 34 5 not_provided 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANKS6 mondo_mondo_0014158_medgen_c3809320_omim_615382_orphanet_655 Nephronophthisis 16 MONDO:MONDO:0014158,MedGen:C3809320,OMIM:615382,Orphanet:655 34 34 1.0000 condition_architecture_interpretable 20 0 2 Nephronophthisis_16 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANKRD17 mondo_mondo_0859186_medgen_c5561975_omim_619504 Chopra-Amiel-Gordon syndrome MONDO:MONDO:0859186,MedGen:C5561975,OMIM:619504 34 34 1.0000 condition_architecture_interpretable 20 0 6 Chopra-Amiel-Gordon_syndrome 46 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALDH18A1 mondo_mondo_0014706_medgen_c4225268_omim_616603_orphanet_90348 Cutis laxa, autosomal dominant 3 MONDO:MONDO:0014706,MedGen:C4225268,OMIM:616603,Orphanet:90348 34 34 1.0000 condition_architecture_interpretable 20 0 34 Cutis_laxa,_autosomal_dominant_3 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADCY5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 34 34 1.0000 condition_record_support_limited 20 34 9 not_provided 57 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture ACE mondo_mondo_0009970_medgen_c5681536_omim_267430_orphanet_97369 Renal tubular dysgenesis of genetic origin MONDO:MONDO:0009970,MedGen:C5681536,OMIM:267430,Orphanet:97369 34 34 1.0000 condition_architecture_interpretable 20 0 28 Renal_tubular_dysgenesis_of_genetic_origin 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZIC3 mondo_mondo_0010607_medgen_c1844020_omim_306955_orphanet_450 Heterotaxy, visceral, 1, X-linked MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955,Orphanet:450 33 33 1.0000 condition_architecture_interpretable 20 0 2 Heterotaxy,_visceral,_1,_X-linked 41 compact_adjacent_exon_block_opportunity local_compact_architecture WDFY3 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 33 33 1.0000 condition_record_support_limited 20 33 9 .|See_cases|not_provided|not_specified 84 large_gene_or_donor_burden_stress_case donor_burden_stress UMOD condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 33 33 1.0000 condition_record_support_limited 20 33 20 not_provided|not_specified 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSC2 tsc2_related_disorder TSC2-related disorder . 33 33 1.0000 condition_architecture_interpretable 20 0 25 TSC2-related_disorder 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TMEM216 mondo_mondo_0011963_medgen_c1842577_omim_608091_orphanet_2318 Joubert syndrome 2 MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091,Orphanet:2318 33 33 1.0000 condition_architecture_interpretable 20 0 23 Joubert_syndrome_2 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCTN2 mondo_mondo_0014724_medgen_c4084841_omim_616654_orphanet_475 Joubert syndrome 24 MONDO:MONDO:0014724,MedGen:C4084841,OMIM:616654,Orphanet:475 33 33 1.0000 condition_architecture_interpretable 20 0 29 Joubert_syndrome_24 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX1 mondo_mondo_0008564_medgen_c0012236_omim_188400_orphanet_567 DiGeorge syndrome MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400,Orphanet:567 33 33 1.0000 condition_architecture_interpretable 20 0 8 DiGeorge_syndrome 56 compact_adjacent_exon_block_opportunity local_compact_architecture SYNE4 condition_not_provided condition not provided MedGen:C3661900 33 33 1.0000 condition_record_support_limited 20 33 12 not_provided 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPTBN2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 33 33 1.0000 condition_record_support_limited 20 33 8 not_provided|not_specified 56 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTAN1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 33 33 1.0000 condition_record_support_limited 20 33 13 See_cases|not_provided|not_specified 131 large_gene_or_donor_burden_stress_case donor_burden_stress SLC24A5 condition_not_provided condition not provided MedGen:C3661900 33 33 1.0000 condition_record_support_limited 20 33 5 not_provided 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC24A1 condition_not_provided condition not provided MedGen:C3661900 33 33 1.0000 condition_record_support_limited 20 33 6 not_provided 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD2 mondo_mondo_0014791_medgen_c4085873_omim_616831_orphanet_597738 Luscan-Lumish syndrome MONDO:MONDO:0014791,MedGen:C4085873,OMIM:616831,Orphanet:597738 33 33 1.0000 condition_architecture_interpretable 20 0 6 Luscan-Lumish_syndrome 68 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RPGR mondo_mondo_0010566_medgen_c1844776_omim_304020_orphanet_1872 X-linked cone-rod dystrophy 1 MONDO:MONDO:0010566,MedGen:C1844776,OMIM:304020,Orphanet:1872 33 33 1.0000 condition_architecture_interpretable 20 0 25 X-linked_cone-rod_dystrophy_1 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAG2 mondo_mondo_0000573_medgen_cn257931 Recombinase activating gene 2 deficiency MONDO:MONDO:0000573,MedGen:CN257931 33 33 1.0000 condition_architecture_interpretable 20 0 32 Recombinase_activating_gene_2_deficiency 147 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPRC mondo_mondo_0012163_medgen_c5676890_omim_608971 Immunodeficiency 104 MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971 33 33 1.0000 condition_architecture_interpretable 20 0 4 Immunodeficiency_104 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPM1D condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 33 33 1.0000 condition_record_support_limited 20 33 10 not_provided 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPM1D mondo_mondo_0044318_medgen_c4479517_omim_617450_orphanet_653767 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold MONDO:MONDO:0044318,MedGen:C4479517,OMIM:617450,Orphanet:653767 33 33 1.0000 condition_architecture_interpretable 20 0 11 Intellectual_developmental_disorder_with_gastrointestinal_difficulties_and_high_pain_threshold 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMGNT1 mondo_mondo_0018276_medgen_c5679911_orphanet_370953 Muscular dystrophy-dystroglycanopathy MONDO:MONDO:0018276,MedGen:C5679911,Orphanet:370953 33 33 1.0000 condition_architecture_interpretable 20 0 32 Muscular_dystrophy-dystroglycanopathy 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA1 mondo_mondo_0014011_medgen_c3554355_omim_615024_orphanet_79394 Autosomal recessive congenital ichthyosis 10 MONDO:MONDO:0014011,MedGen:C3554355,OMIM:615024,Orphanet:79394 33 33 1.0000 condition_architecture_interpretable 20 0 15 Autosomal_recessive_congenital_ichthyosis_10 48 compact_adjacent_exon_block_opportunity local_compact_architecture PIK3R1 mondo_mondo_0014083_medgen_c3554689_omim_615214 Agammaglobulinemia 7, autosomal recessive MONDO:MONDO:0014083,MedGen:C3554689,OMIM:615214 33 33 1.0000 condition_architecture_interpretable 20 0 32 Agammaglobulinemia_7,_autosomal_recessive 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 33 33 1.0000 condition_record_support_limited 20 33 16 not_provided 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA1 mondo_mondo_0007429_medgen_c3276549_omim_125250 Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250 33 33 1.0000 condition_architecture_interpretable 20 0 18 Optic_atrophy_with_or_without_deafness,_ophthalmoplegia,_myopathy,_ataxia,_and_neuropathy 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ODAD3 mondo_mondo_0014465_medgen_c4015016_omim_616037_orphanet_244 Primary ciliary dyskinesia 30 MONDO:MONDO:0014465,MedGen:C4015016,OMIM:616037,Orphanet:244 33 33 1.0000 condition_architecture_interpretable 20 0 3 Primary_ciliary_dyskinesia_30 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 33 33 1.0000 condition_record_support_limited 20 33 22 not_provided 161 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NOTCH3 notch3_related_disorder NOTCH3-related disorder . 33 33 1.0000 condition_architecture_interpretable 20 0 30 NOTCH3-related_disorder 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NDUFS4 mondo_mondo_0100224_medgen_cn257533_omim_252010 Mitochondrial complex I deficiency, nuclear type 1 MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 33 33 1.0000 condition_architecture_interpretable 20 0 12 Mitochondrial_complex_I_deficiency,_nuclear_type_1 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTMR2 mondo_mondo_0011066_medgen_c1832399_omim_601382_orphanet_99955 Charcot-Marie-Tooth disease type 4B1 MONDO:MONDO:0011066,MedGen:C1832399,OMIM:601382,Orphanet:99955 33 33 1.0000 condition_architecture_interpretable 20 0 8 Charcot-Marie-Tooth_disease_type_4B1 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MERTK human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 33 33 1.0000 condition_architecture_interpretable 20 0 19 Retinal_dystrophy 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ3 mondo_mondo_0016027_medgen_c0220669_omim_ps121200_orphanet_1949 Benign neonatal seizures MONDO:MONDO:0016027,MedGen:C0220669,OMIM:PS121200,Orphanet:1949 33 33 1.0000 condition_architecture_interpretable 20 0 9 Benign_neonatal_seizures 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 33 33 1.0000 condition_architecture_interpretable 20 0 27 Seizure 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IRF6 mondo_mondo_0007333_medgen_c4551864_omim_119300 Van der Woude syndrome 1 MONDO:MONDO:0007333,MedGen:C4551864,OMIM:119300 33 33 1.0000 condition_architecture_interpretable 20 0 16 Van_der_Woude_syndrome_1 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IRAK4 mondo_mondo_0011888_medgen_c1843256_omim_607676_orphanet_70592 Immunodeficiency 67 MONDO:MONDO:0011888,MedGen:C1843256,OMIM:607676,Orphanet:70592 33 33 1.0000 condition_architecture_interpretable 20 0 2 Immunodeficiency_67 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT140 condition_not_provided condition not provided .|MedGen:C3661900 33 33 1.0000 condition_record_support_limited 20 33 28 See_cases|not_provided 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFIH1 mondo_mondo_0014367_medgen_c3888244_omim_615846_orphanet_51 Aicardi-Goutieres syndrome 7 MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51 33 33 1.0000 condition_architecture_interpretable 20 0 14 Aicardi-Goutieres_syndrome_7 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HUWE1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 33 33 1.0000 condition_record_support_limited 20 33 12 not_provided 75 large_gene_or_donor_burden_stress_case donor_burden_stress HIVEP2 condition_not_provided condition not provided MedGen:C3661900 33 33 1.0000 condition_record_support_limited 20 33 10 not_provided 74 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture GPHN human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 33 33 1.0000 condition_architecture_interpretable 20 0 29 Retinal_dystrophy 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAO1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 33 33 1.0000 condition_record_support_limited 20 33 20 not_provided 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATM mondo_mondo_0012996_medgen_c2675179_omim_612718_orphanet_35704 Arginine:glycine amidinotransferase deficiency MONDO:MONDO:0012996,MedGen:C2675179,OMIM:612718,Orphanet:35704 33 33 1.0000 condition_architecture_interpretable 20 0 6 Arginine:glycine_amidinotransferase_deficiency 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXC1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 33 33 1.0000 condition_record_support_limited 20 33 14 not_provided 150 single_exon_hotspot_opportunity local_compact_architecture ERCC4 mondo_mondo_0016006_medgen_c0009207_orphanet_191 Cockayne syndrome MONDO:MONDO:0016006,MedGen:C0009207,Orphanet:191 33 33 1.0000 condition_architecture_interpretable 20 0 33 Cockayne_syndrome 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT3B mondo_mondo_0000133_medgen_c0398788_omim_ps242860_orphanet_2268 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency MONDO:MONDO:0000133,MedGen:C0398788,OMIM:PS242860,Orphanet:2268 33 33 1.0000 condition_architecture_interpretable 20 0 9 Centromeric_instability_of_chromosomes_1,9_and_16_and_immunodeficiency 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLG4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 33 33 1.0000 condition_record_support_limited 20 33 17 not_provided 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP11A1 condition_not_provided condition not provided MedGen:C3661900 33 33 1.0000 condition_record_support_limited 20 33 14 not_provided 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CWC27 condition_not_provided condition not provided MedGen:C3661900 33 33 1.0000 condition_record_support_limited 20 33 7 not_provided 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPT2 condition_not_provided condition not provided MedGen:C3661900 33 33 1.0000 condition_record_support_limited 20 33 26 not_provided 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COMP mondo_mondo_0007561_medgen_c1838280_omim_132400_orphanet_93308 Multiple epiphyseal dysplasia type 1 MONDO:MONDO:0007561,MedGen:C1838280,OMIM:132400,Orphanet:93308 33 33 1.0000 condition_architecture_interpretable 20 0 16 Multiple_epiphyseal_dysplasia_type_1 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGB1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 33 33 1.0000 condition_architecture_interpretable 20 0 19 Retinal_dystrophy 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 33 33 1.0000 condition_record_support_limited 20 33 7 not_provided 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH23 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 33 33 1.0000 condition_architecture_interpretable 20 0 20 Retinal_dystrophy 725 large_gene_or_donor_burden_stress_case donor_burden_stress CCDC88A condition_not_provided condition not provided MedGen:C3661900 33 33 1.0000 condition_record_support_limited 20 33 2 not_provided 36 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CARD11 mondo_mondo_0014645_medgen_c4551967_omim_616452_orphanet_464336 BENTA disease MONDO:MONDO:0014645,MedGen:C4551967,OMIM:616452,Orphanet:464336 33 33 1.0000 condition_architecture_interpretable 20 0 30 BENTA_disease 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRPF1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 33 33 1.0000 condition_record_support_limited 20 33 10 See_cases|not_provided 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA2 inherited_ovarian_cancer_without_breast_cancer Inherited ovarian cancer (without breast cancer) . 33 33 1.0000 condition_architecture_interpretable 20 0 32 Inherited_ovarian_cancer_(without_breast_cancer) 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BMPR1A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 33 33 1.0000 condition_record_support_limited 20 33 26 not_provided 295 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATP1A2 mondo_mondo_0011232_medgen_c1865322_omim_602481_orphanet_569 Migraine, familial hemiplegic, 2 MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569 33 33 1.0000 condition_architecture_interpretable 20 0 24 Migraine,_familial_hemiplegic,_2 134 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AOPEP condition_not_provided condition not provided MedGen:C3661900 33 33 1.0000 condition_record_support_limited 20 33 28 not_provided 191 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANTXR2 mondo_mondo_0009229_medgen_c5574677_omim_228600_orphanet_2028_orphanet_498474 Hyaline fibromatosis syndrome MONDO:MONDO:0009229,MedGen:C5574677,OMIM:228600,Orphanet:2028,Orphanet:498474 33 33 1.0000 condition_architecture_interpretable 20 0 4 Hyaline_fibromatosis_syndrome 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMT mondo_mondo_0958192_medgen_c5830559_omim_620398 Glycine encephalopathy 2 MONDO:MONDO:0958192,MedGen:C5830559,OMIM:620398 33 33 1.0000 condition_architecture_interpretable 20 0 26 Glycine_encephalopathy_2 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG3 mondo_mondo_0010998_medgen_c1832736_omim_601110_orphanet_79321 ALG3-congenital disorder of glycosylation MONDO:MONDO:0010998,MedGen:C1832736,OMIM:601110,Orphanet:79321 33 33 1.0000 condition_architecture_interpretable 20 0 6 ALG3-congenital_disorder_of_glycosylation 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AICDA mondo_mondo_0011528_medgen_c1720956_omim_605258_orphanet_101089 Hyper-IgM syndrome type 2 MONDO:MONDO:0011528,MedGen:C1720956,OMIM:605258,Orphanet:101089 33 33 1.0000 condition_architecture_interpretable 20 0 10 Hyper-IgM_syndrome_type_2 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABHD12 condition_not_provided condition not provided MedGen:C3661900 33 33 1.0000 condition_record_support_limited 20 33 6 not_provided 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF454 condition_not_provided condition not provided MedGen:C3661900 32 32 1.0000 condition_record_support_limited 20 32 8 not_provided 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WT1 mondo_mondo_0009733_medgen_c3151568_omim_256370_orphanet_656 Nephrotic syndrome, type 4 MONDO:MONDO:0009733,MedGen:C3151568,OMIM:256370,Orphanet:656 32 32 1.0000 condition_architecture_interpretable 20 0 19 Nephrotic_syndrome,_type_4 153 compact_adjacent_exon_block_opportunity local_compact_architecture WDPCP mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 32 32 1.0000 condition_architecture_interpretable 20 0 11 Bardet-Biedl_syndrome 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VPS13D mondo_mondo_0011811_medgen_c1846492_omim_607317_orphanet_95434 Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome MONDO:MONDO:0011811,MedGen:C1846492,OMIM:607317,Orphanet:95434 32 32 1.0000 condition_architecture_interpretable 20 0 7 Autosomal_recessive_cerebellar_ataxia-saccadic_intrusion_syndrome 76 large_gene_or_donor_burden_stress_case donor_burden_stress VARS1 mondo_mondo_0060621_medgen_c4540493_omim_617802 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy MONDO:MONDO:0060621,MedGen:C4540493,OMIM:617802 32 32 1.0000 condition_architecture_interpretable 20 0 3 Neurodevelopmental_disorder_with_microcephaly,_seizures,_and_cortical_atrophy 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USH1G mondo_mondo_0011748_medgen_c1847089_omim_606943_orphanet_231169_orphanet_886 Usher syndrome type 1G MONDO:MONDO:0011748,MedGen:C1847089,OMIM:606943,Orphanet:231169,Orphanet:886 32 32 1.0000 condition_architecture_interpretable 20 0 12 Usher_syndrome_type_1G 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSPAN1 condition_not_provided condition not provided MedGen:C3661900 32 32 1.0000 condition_record_support_limited 20 32 25 not_provided 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM216 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 32 32 1.0000 condition_architecture_interpretable 20 0 15 Joubert_syndrome 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGM1 mondo_mondo_0017778_medgen_c5848247_orphanet_313 Lamellar ichthyosis MONDO:MONDO:0017778,MedGen:C5848247,Orphanet:313 32 32 1.0000 condition_architecture_interpretable 20 0 29 Lamellar_ichthyosis 297 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPRED1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 32 32 1.0000 condition_record_support_limited 20 32 24 See_cases|not_provided 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA4 mondo_mondo_0013821_medgen_c3553249_omim_614609_orphanet_1465 Intellectual disability, autosomal dominant 16 MONDO:MONDO:0013821,MedGen:C3553249,OMIM:614609,Orphanet:1465 32 32 1.0000 condition_architecture_interpretable 20 0 15 Intellectual_disability,_autosomal_dominant_16 321 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC5A5 condition_not_provided condition not provided MedGen:C3661900 32 32 1.0000 condition_record_support_limited 20 32 9 not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC34A1 condition_not_provided condition not provided MedGen:C3661900 32 32 1.0000 condition_record_support_limited 20 32 12 not_provided 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC27A4 condition_not_provided condition not provided MedGen:C3661900 32 32 1.0000 condition_record_support_limited 20 32 11 not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SH3TC2 mondo_mondo_0013237_medgen_c3150596_omim_613353 Susceptibility to mononeuropathy of the median nerve, mild MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353 32 32 1.0000 condition_architecture_interpretable 20 0 32 Susceptibility_to_mononeuropathy_of_the_median_nerve,_mild 162 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINF1 mondo_mondo_0013515_medgen_c3279564_omim_613982_orphanet_666 Osteogenesis imperfecta type 6 MONDO:MONDO:0013515,MedGen:C3279564,OMIM:613982,Orphanet:666 32 32 1.0000 condition_architecture_interpretable 20 0 12 Osteogenesis_imperfecta_type_6 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEC63 mondo_mondo_0014860_medgen_c4310769_omim_617004_orphanet_2924 Polycystic liver disease 2 MONDO:MONDO:0014860,MedGen:C4310769,OMIM:617004,Orphanet:2924 32 32 1.0000 condition_architecture_interpretable 20 0 11 Polycystic_liver_disease_2 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCO2 mondo_mondo_0011283_medgen_c4551995_omim_603041_orphanet_298 Mitochondrial DNA depletion syndrome 1 MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041,Orphanet:298 32 32 1.0000 condition_architecture_interpretable 20 0 14 Mitochondrial_DNA_depletion_syndrome_1 110 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SCN5A mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 Congenital long QT syndrome MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 32 32 1.0000 condition_architecture_interpretable 20 0 31 Congenital_long_QT_syndrome 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A mondo_mondo_0018959_medgen_c2931826_omim_608390_orphanet_612_orphanet_99734_orphanet_99735_orphanet_99736 Potassium-aggravated myotonia MONDO:MONDO:0018959,MedGen:C2931826,OMIM:608390,Orphanet:612,Orphanet:99734,Orphanet:99735,Orphanet:99736 32 32 1.0000 condition_architecture_interpretable 20 0 29 Potassium-aggravated_myotonia 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A mondo_mondo_0013620_medgen_c3280112_omim_614198_orphanet_590 Congenital myasthenic syndrome 16 MONDO:MONDO:0013620,MedGen:C3280112,OMIM:614198,Orphanet:590 32 32 1.0000 condition_architecture_interpretable 20 0 28 Congenital_myasthenic_syndrome_16 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 32 32 1.0000 condition_architecture_interpretable 20 0 27 Developmental_and_epileptic_encephalopathy 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SAG condition_not_provided condition not provided MedGen:C3661900 32 32 1.0000 condition_record_support_limited 20 32 10 not_provided 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RYR1 succinylcholine_response_toxicity succinylcholine response - Toxicity . 32 32 1.0000 condition_architecture_interpretable 20 0 32 succinylcholine_response_-_Toxicity 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 sevoflurane_response_toxicity sevoflurane response - Toxicity . 32 32 1.0000 condition_architecture_interpretable 20 0 32 sevoflurane_response_-_Toxicity 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 methoxyflurane_response_toxicity methoxyflurane response - Toxicity . 32 32 1.0000 condition_architecture_interpretable 20 0 32 methoxyflurane_response_-_Toxicity 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 isoflurane_response_toxicity isoflurane response - Toxicity . 32 32 1.0000 condition_architecture_interpretable 20 0 32 isoflurane_response_-_Toxicity 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 halothane_response_toxicity halothane response - Toxicity . 32 32 1.0000 condition_architecture_interpretable 20 0 32 halothane_response_-_Toxicity 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 enflurane_response_toxicity enflurane response - Toxicity . 32 32 1.0000 condition_architecture_interpretable 20 0 32 enflurane_response_-_Toxicity 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 desflurane_response_toxicity desflurane response - Toxicity . 32 32 1.0000 condition_architecture_interpretable 20 0 32 desflurane_response_-_Toxicity 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 mondo_mondo_0009711_medgen_c0546264_orphanet_2020 Congenital myopathy with fiber type disproportion MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020 32 32 1.0000 condition_architecture_interpretable 20 0 30 Congenital_myopathy_with_fiber_type_disproportion 770 large_gene_or_donor_burden_stress_case donor_burden_stress RPGRIP1 condition_not_provided condition not provided MedGen:C3661900 32 32 1.0000 condition_record_support_limited 20 32 26 not_provided 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RDH12 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 32 32 1.0000 condition_architecture_interpretable 20 0 29 Retinal_dystrophy 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUS1 mondo_mondo_0024553_medgen_c4551958_omim_600462_orphanet_2598 Myopathy, lactic acidosis, and sideroblastic anemia 1 MONDO:MONDO:0024553,MedGen:C4551958,OMIM:600462,Orphanet:2598 32 32 1.0000 condition_architecture_interpretable 20 0 11 Myopathy,_lactic_acidosis,_and_sideroblastic_anemia_1 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTEN pten_related_disorder PTEN-related disorder . 32 32 1.0000 condition_architecture_interpretable 20 0 28 PTEN-related_disorder 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN mondo_mondo_0016063_medgen_c0018553_omim_ps158350_orphanet_201 Cowden syndrome MONDO:MONDO:0016063,MedGen:C0018553,OMIM:PS158350,Orphanet:201 32 32 1.0000 condition_architecture_interpretable 20 0 27 Cowden_syndrome 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control POU3F3 mondo_mondo_0032830_medgen_c5231424_omim_618604_orphanet_656135 Snijders blok-fisher syndrome MONDO:MONDO:0032830,MedGen:C5231424,OMIM:618604,Orphanet:656135 32 32 1.0000 condition_architecture_interpretable 20 0 6 Snijders_blok-fisher_syndrome 52 single_exon_hotspot_opportunity local_compact_architecture POLR3B mondo_mondo_0013722_medgen_c3280644_omim_614381_orphanet_85186_orphanet_88637 Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism MONDO:MONDO:0013722,MedGen:C3280644,OMIM:614381,Orphanet:85186,Orphanet:88637 32 32 1.0000 condition_architecture_interpretable 20 0 15 Hypomyelinating_leukodystrophy_8_with_or_without_oligodontia_and-or_hypogonadotropic_hypogonadism 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PANK2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 32 32 1.0000 condition_record_support_limited 20 32 26 See_cases|not_provided 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAH mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 32 32 1.0000 condition_architecture_interpretable 20 0 32 Inborn_genetic_diseases 886 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NLRP3 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 32 32 1.0000 condition_record_support_limited 20 32 22 See_cases|not_provided 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NGLY1 mondo_mondo_0800044_medgen_cn306977_omim_615273_orphanet_404454 Congenital disorder of deglycosylation 1 MONDO:MONDO:0800044,MedGen:CN306977,OMIM:615273,Orphanet:404454 32 32 1.0000 condition_architecture_interpretable 20 0 17 Congenital_disorder_of_deglycosylation_1 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMACHC condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 32 32 1.0000 condition_record_support_limited 20 32 32 not_provided|not_specified 178 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MBD5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 32 32 1.0000 condition_record_support_limited 20 32 10 not_provided 119 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LMNA mondo_mondo_0008310_medgen_c0033300_omim_176670_orphanet_740 Hutchinson-Gilford syndrome MONDO:MONDO:0008310,MedGen:C0033300,OMIM:176670,Orphanet:740 32 32 1.0000 condition_architecture_interpretable 20 0 27 Hutchinson-Gilford_syndrome 536 compact_adjacent_exon_block_opportunity local_compact_architecture LHX3 mondo_mondo_0009091_medgen_c3489787_omim_221750_orphanet_231720 Non-acquired combined pituitary hormone deficiency with spine abnormalities MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750,Orphanet:231720 32 32 1.0000 condition_architecture_interpretable 20 0 8 Non-acquired_combined_pituitary_hormone_deficiency_with_spine_abnormalities 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LGI1 mondo_mondo_0010898_medgen_c1838062_orphanet_101046 Autosomal dominant epilepsy with auditory features MONDO:MONDO:0010898,MedGen:C1838062,Orphanet:101046 32 32 1.0000 condition_architecture_interpretable 20 0 10 Autosomal_dominant_epilepsy_with_auditory_features 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LDB3 mondo_mondo_0012277_medgen_c4721886_omim_609452_orphanet_98912 Myofibrillar myopathy 4 MONDO:MONDO:0012277,MedGen:C4721886,OMIM:609452,Orphanet:98912 32 32 1.0000 condition_architecture_interpretable 20 0 3 Myofibrillar_myopathy_4 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIRREL2 mondo_mondo_0009732_medgen_c0403399_omim_256300_orphanet_839 Finnish congenital nephrotic syndrome MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839 32 32 1.0000 condition_architecture_interpretable 20 0 9 Finnish_congenital_nephrotic_syndrome 40 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture KCNT1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 32 32 1.0000 condition_record_support_limited 20 32 20 See_cases|not_provided|not_specified 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 kcnq2_related_disorder KCNQ2-related disorder MedGen:CN169299 32 32 1.0000 condition_architecture_interpretable 20 0 27 KCNQ2-related_disorder 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JUP mondo_mondo_0011017_medgen_c1832600_omim_601214_orphanet_34217 Naxos disease MONDO:MONDO:0011017,MedGen:C1832600,OMIM:601214,Orphanet:34217 32 32 1.0000 condition_architecture_interpretable 20 0 26 Naxos_disease 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INF2 mondo_mondo_0013758_medgen_c4302667_omim_614455_orphanet_93114 Charcot-Marie-Tooth disease dominant intermediate E MONDO:MONDO:0013758,MedGen:C4302667,OMIM:614455,Orphanet:93114 32 32 1.0000 condition_architecture_interpretable 20 0 28 Charcot-Marie-Tooth_disease_dominant_intermediate_E 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPD human_phenotype_ontology_hp_0034457_mondo_mondo_0007700_medgen_c2931042_omim_140350_orphanet_2118 Hawkinsinuria Human_Phenotype_Ontology:HP:0034457,MONDO:MONDO:0007700,MedGen:C2931042,OMIM:140350,Orphanet:2118 32 32 1.0000 condition_architecture_interpretable 20 0 31 Hawkinsinuria 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF1B human_phenotype_ontology_hp_0004904_mondo_mondo_0018911_medgen_c0342276_omim_ps125850_orphanet_552 Maturity-onset diabetes of the young Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552 32 32 1.0000 condition_architecture_interpretable 20 0 31 Maturity-onset_diabetes_of_the_young 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HADHA condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 32 32 1.0000 condition_record_support_limited 20 32 25 not_provided 238 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 32 32 1.0000 condition_record_support_limited 20 32 14 not_provided 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNE mondo_mondo_0958325_medgen_c5935593_omim_620757 Thrombocytopenia 12 with or without myopathy MONDO:MONDO:0958325,MedGen:C5935593,OMIM:620757 32 32 1.0000 condition_architecture_interpretable 20 0 31 Thrombocytopenia_12_with_or_without_myopathy 223 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 32 32 1.0000 condition_record_support_limited 20 32 18 not_provided|not_specified 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDAP1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 32 32 1.0000 condition_record_support_limited 20 32 21 not_provided 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBE1 mondo_mondo_0009897_medgen_c1849722_omim_263570_orphanet_206583 Adult polyglucosan body disease MONDO:MONDO:0009897,MedGen:C1849722,OMIM:263570,Orphanet:206583 32 32 1.0000 condition_architecture_interpretable 20 0 32 Adult_polyglucosan_body_disease 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRB3 mondo_mondo_0014921_medgen_c4310712_omim_617113 Developmental and epileptic encephalopathy, 43 MONDO:MONDO:0014921,MedGen:C4310712,OMIM:617113 32 32 1.0000 condition_architecture_interpretable 20 0 10 Developmental_and_epileptic_encephalopathy,_43 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCF mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 Fanconi anemia MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 32 32 1.0000 condition_architecture_interpretable 20 0 15 Fanconi_anemia 57 single_exon_hotspot_opportunity local_compact_architecture EIF2AK4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 32 32 1.0000 condition_record_support_limited 20 32 12 not_provided 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DICER1 human_phenotype_ontology_hp_0100528_mondo_mondo_0011014_medgen_c1266144_omim_601200_orphanet_64742 Pleuropulmonary blastoma Human_Phenotype_Ontology:HP:0100528,MONDO:MONDO:0011014,MedGen:C1266144,OMIM:601200,Orphanet:64742 32 32 1.0000 condition_architecture_interpretable 20 0 26 Pleuropulmonary_blastoma 833 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CYP7B1 mondo_mondo_0010047_medgen_c1849115_omim_270800_orphanet_100986 Hereditary spastic paraplegia 5A MONDO:MONDO:0010047,MedGen:C1849115,OMIM:270800,Orphanet:100986 32 32 1.0000 condition_architecture_interpretable 20 0 22 Hereditary_spastic_paraplegia_5A 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP1B1 human_phenotype_ontology_hp_0008007_mondo_mondo_0000365_medgen_c1533041 Primary congenital glaucoma Human_Phenotype_Ontology:HP:0008007,MONDO:MONDO:0000365,MedGen:C1533041 32 32 1.0000 condition_architecture_interpretable 20 0 29 Primary_congenital_glaucoma 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP11B2 mondo_mondo_0012524_medgen_c3463917_omim_610600_orphanet_427 Corticosterone methyloxidase type 2 deficiency MONDO:MONDO:0012524,MedGen:C3463917,OMIM:610600,Orphanet:427 32 32 1.0000 condition_architecture_interpretable 20 0 30 Corticosterone_methyloxidase_type_2_deficiency 131 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL3 mondo_mondo_0030994_medgen_c5543225_omim_619239 Neurodevelopmental disorder with or without autism or seizures MONDO:MONDO:0030994,MedGen:C5543225,OMIM:619239 32 32 1.0000 condition_architecture_interpretable 20 0 10 Neurodevelopmental_disorder_with_or_without_autism_or_seizures 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A4 col4a4_related_disorder COL4A4-related disorder . 32 32 1.0000 condition_architecture_interpretable 20 0 26 COL4A4-related_disorder 860 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL2A1 mondo_mondo_0007895_medgen_c1835437_omim_151210_orphanet_85166 Platyspondylic dysplasia, Torrance type MONDO:MONDO:0007895,MedGen:C1835437,OMIM:151210,Orphanet:85166 32 32 1.0000 condition_architecture_interpretable 20 0 29 Platyspondylic_dysplasia,_Torrance_type 1101 large_gene_or_donor_burden_stress_case donor_burden_stress CLRN1 mondo_mondo_0016485_medgen_c1568248_orphanet_231183 Usher syndrome type 3 MONDO:MONDO:0016485,MedGen:C1568248,Orphanet:231183 32 32 1.0000 condition_architecture_interpretable 20 0 22 Usher_syndrome_type_3 97 compact_adjacent_exon_block_opportunity local_compact_architecture CLN6 mondo_mondo_0008768_medgen_c5561927_omim_204300_orphanet_700477 Ceroid lipofuscinosis, neuronal, 6B (Kufs type) MONDO:MONDO:0008768,MedGen:C5561927,OMIM:204300,Orphanet:700477 32 32 1.0000 condition_architecture_interpretable 20 0 31 Ceroid_lipofuscinosis,_neuronal,_6B_(Kufs_type) 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN3 condition_not_provided condition not provided MedGen:C3661900 32 32 1.0000 condition_record_support_limited 20 32 27 not_provided 220 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN7 mondo_mondo_0012676_medgen_c1969106_omim_611490_orphanet_667 Autosomal recessive osteopetrosis 4 MONDO:MONDO:0012676,MedGen:C1969106,OMIM:611490,Orphanet:667 32 32 1.0000 condition_architecture_interpretable 20 0 13 Autosomal_recessive_osteopetrosis_4 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CARD11 mondo_mondo_0014081_medgen_c3554686_omim_615206_orphanet_357237 Severe combined immunodeficiency due to CARD11 deficiency MONDO:MONDO:0014081,MedGen:C3554686,OMIM:615206,Orphanet:357237 32 32 1.0000 condition_architecture_interpretable 20 0 30 Severe_combined_immunodeficiency_due_to_CARD11_deficiency 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN1 condition_not_provided condition not provided MedGen:C3661900 32 32 1.0000 condition_record_support_limited 20 32 12 not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRIP1 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 32 32 1.0000 condition_architecture_interpretable 20 0 29 Hereditary_breast_ovarian_cancer_syndrome 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATRX mondo_mondo_0010663_medgen_c4759781_omim_309580_orphanet_73220_orphanet_93970_orphanet_93971_orphanet_93972_orphanet_93973_orphanet_93974_orphanet_93975 Intellectual disability-hypotonic facies syndrome, X-linked, 1 MONDO:MONDO:0010663,MedGen:C4759781,OMIM:309580,Orphanet:73220,Orphanet:93970,Orphanet:93971,Orphanet:93972,Orphanet:93973,Orphanet:93974,Orphanet:93975 32 32 1.0000 condition_architecture_interpretable 20 0 19 Intellectual_disability-hypotonic_facies_syndrome,_X-linked,_1 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATP8A2 mondo_mondo_0014104_medgen_c3808977_omim_615268_orphanet_1766 Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 MONDO:MONDO:0014104,MedGen:C3808977,OMIM:615268,Orphanet:1766 32 32 1.0000 condition_architecture_interpretable 20 0 6 Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_4 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP7A condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 32 32 1.0000 condition_record_support_limited 20 32 16 See_cases|not_provided|not_specified 254 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V0A2 mondo_mondo_0018163_medgen_c0268355_omim_219200_orphanet_357058 Cutis laxa with osteodystrophy MONDO:MONDO:0018163,MedGen:C0268355,OMIM:219200,Orphanet:357058 32 32 1.0000 condition_architecture_interpretable 20 0 21 Cutis_laxa_with_osteodystrophy 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASS1 condition_not_provided condition not provided .|MedGen:C3661900 32 32 1.0000 condition_record_support_limited 20 32 31 See_cases|not_provided 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARX condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 32 32 1.0000 condition_record_support_limited 20 32 18 not_provided 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARFGEF1 mondo_mondo_0859263_medgen_c5575272_omim_619964 Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures MONDO:MONDO:0859263,MedGen:C5575272,OMIM:619964 32 32 1.0000 condition_architecture_interpretable 20 0 6 Developmental_delay,_impaired_speech,_and_behavioral_abnormalities,_with_or_without_seizures 79 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ACADS condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 32 32 1.0000 condition_record_support_limited 20 32 26 not_provided 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZAP70 mondo_mondo_0010023_medgen_c2931299_omim_269840_orphanet_911 Combined immunodeficiency due to ZAP70 deficiency MONDO:MONDO:0010023,MedGen:C2931299,OMIM:269840,Orphanet:911 31 31 1.0000 condition_architecture_interpretable 20 0 5 Combined_immunodeficiency_due_to_ZAP70_deficiency 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YARS2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 31 31 1.0000 condition_record_support_limited 20 31 6 not_provided 37 compact_adjacent_exon_block_opportunity local_compact_architecture TULP1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 31 31 1.0000 condition_architecture_interpretable 20 0 18 Retinal_dystrophy 151 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TOP3A condition_not_provided condition not provided MedGen:C3661900 31 31 1.0000 condition_record_support_limited 20 31 6 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNFRSF13B mondo_mondo_0009413_medgen_c3150354_omim_240500_orphanet_1572 Immunodeficiency, common variable, 2 MONDO:MONDO:0009413,MedGen:C3150354,OMIM:240500,Orphanet:1572 31 31 1.0000 condition_architecture_interpretable 20 0 12 Immunodeficiency,_common_variable,_2 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 31 31 1.0000 condition_record_support_limited 20 31 22 not_provided|not_specified 130 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCD mondo_mondo_0044646_medgen_c5567454_omim_617193_orphanet_496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome MONDO:MONDO:0044646,MedGen:C5567454,OMIM:617193,Orphanet:496641 31 31 1.0000 condition_architecture_interpretable 20 0 13 Early-onset_progressive_diffuse_brain_atrophy-microcephaly-muscle_weakness-optic_atrophy_syndrome 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAT2 mondo_mondo_0014715_medgen_c4225260_omim_616636_orphanet_431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636,Orphanet:431166 31 31 1.0000 condition_architecture_interpretable 20 0 0 Primary_immunodeficiency_with_post-measles-mumps-rubella_vaccine_viral_infection 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SRCAP mondo_mondo_0007621_medgen_c0729582_omim_136140_orphanet_2044 Floating-Harbor syndrome MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140,Orphanet:2044 31 31 1.0000 condition_architecture_interpretable 20 0 16 Floating-Harbor_syndrome 111 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SOX5 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 31 31 1.0000 condition_record_support_limited 20 31 13 See_cases|not_provided 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 31 31 1.0000 condition_record_support_limited 20 31 13 not_provided 102 single_exon_hotspot_opportunity local_compact_architecture SOS1 mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 Noonan syndrome MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 31 31 1.0000 condition_architecture_interpretable 20 0 27 Noonan_syndrome 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINF1 condition_not_provided condition not provided MedGen:C3661900 31 31 1.0000 condition_record_support_limited 20 31 13 not_provided 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEC23B condition_not_provided condition not provided .|MedGen:C3661900 31 31 1.0000 condition_record_support_limited 20 31 22 See_cases|not_provided 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPH2 mondo_mondo_0008210_medgen_c4551999_omim_169150_orphanet_99001 Patterned macular dystrophy 1 MONDO:MONDO:0008210,MedGen:C4551999,OMIM:169150,Orphanet:99001 31 31 1.0000 condition_architecture_interpretable 20 0 25 Patterned_macular_dystrophy_1 361 compact_adjacent_exon_block_opportunity local_compact_architecture PGAP3 mondo_mondo_0014318_medgen_c3810354_omim_615716_orphanet_247262 Hyperphosphatasia with intellectual disability syndrome 4 MONDO:MONDO:0014318,MedGen:C3810354,OMIM:615716,Orphanet:247262 31 31 1.0000 condition_architecture_interpretable 20 0 10 Hyperphosphatasia_with_intellectual_disability_syndrome_4 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OCRL mondo_mondo_0010359_medgen_c1845167_omim_300555_orphanet_1652_orphanet_93623 Dent disease type 2 MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555,Orphanet:1652,Orphanet:93623 31 31 1.0000 condition_architecture_interpretable 20 0 15 Dent_disease_type_2 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NSUN2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 31 31 1.0000 condition_record_support_limited 20 31 7 See_cases|not_provided 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NHEJ1 mondo_mondo_0012650_medgen_c1969799_omim_611291_orphanet_169079 Cernunnos-XLF deficiency MONDO:MONDO:0012650,MedGen:C1969799,OMIM:611291,Orphanet:169079 31 31 1.0000 condition_architecture_interpretable 20 0 3 Cernunnos-XLF_deficiency 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDP human_phenotype_ontology_hp_6000262_mondo_mondo_0010691_medgen_c0266526_omim_310600_orphanet_649 Atrophia bulborum hereditaria Human_Phenotype_Ontology:HP:6000262,MONDO:MONDO:0010691,MedGen:C0266526,OMIM:310600,Orphanet:649 31 31 1.0000 condition_architecture_interpretable 20 0 13 Atrophia_bulborum_hereditaria 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTMR2 mondo_mondo_0018995_medgen_c4082197_orphanet_64749 Charcot-Marie-Tooth disease type 4 MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749 31 31 1.0000 condition_architecture_interpretable 20 0 10 Charcot-Marie-Tooth_disease_type_4 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTHFR condition_not_provided condition not provided .|MedGen:C3661900 31 31 1.0000 condition_record_support_limited 20 31 27 See_cases|not_provided 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAX mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 31 31 1.0000 condition_architecture_interpretable 20 0 12 Hereditary_cancer-predisposing_syndrome 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIAA0586 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 31 31 1.0000 condition_record_support_limited 20 31 25 not_provided 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSPB1 mondo_mondo_0011687_medgen_c1847823_omim_606595_orphanet_99940 Charcot-Marie-Tooth disease axonal type 2F MONDO:MONDO:0011687,MedGen:C1847823,OMIM:606595,Orphanet:99940 31 31 1.0000 condition_architecture_interpretable 20 0 22 Charcot-Marie-Tooth_disease_axonal_type_2F 39 compact_adjacent_exon_block_opportunity local_compact_architecture GPR143 mondo_mondo_0021019_medgen_c0342684_omim_300500_orphanet_54 Ocular albinism, type I MONDO:MONDO:0021019,MedGen:C0342684,OMIM:300500,Orphanet:54 31 31 1.0000 condition_architecture_interpretable 20 0 23 Ocular_albinism,_type_I 112 compact_adjacent_exon_block_opportunity local_compact_architecture GPHN condition_not_provided condition not provided MedGen:C3661900 31 31 1.0000 condition_record_support_limited 20 31 26 not_provided 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNRHR mondo_mondo_0007794_medgen_c0342384_omim_146110_orphanet_432 Hypogonadotropic hypogonadism 7 with or without anosmia MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432 31 31 1.0000 condition_architecture_interpretable 20 0 16 Hypogonadotropic_hypogonadism_7_with_or_without_anosmia 43 compact_adjacent_exon_block_opportunity local_compact_architecture GJB2 medgen_c3887873 Hearing loss MedGen:C3887873 31 31 1.0000 condition_architecture_interpretable 20 0 30 Hearing_loss 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCK mondo_mondo_0100165_medgen_c5393570_omim_606176 Permanent neonatal diabetes mellitus 1 MONDO:MONDO:0100165,MedGen:C5393570,OMIM:606176 31 31 1.0000 condition_architecture_interpretable 20 0 31 Permanent_neonatal_diabetes_mellitus_1 655 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCK gck_related_disorder GCK-related disorder . 31 31 1.0000 condition_architecture_interpretable 20 0 25 GCK-related_disorder 655 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRG2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 31 31 1.0000 condition_record_support_limited 20 31 19 not_provided 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRA1 mondo_mondo_0005579_medgen_c0270850_omim_600669_omim_ps600669 Idiopathic generalized epilepsy MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669 31 31 1.0000 condition_architecture_interpretable 20 0 31 Idiopathic_generalized_epilepsy 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRA1 medgen_c1970160_orphanet_307 Epilepsy, childhood absence 4 MedGen:C1970160,Orphanet:307 31 31 1.0000 condition_architecture_interpretable 20 0 31 Epilepsy,_childhood_absence_4 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLNB mondo_mondo_0010094_medgen_c1848934_omim_272460_orphanet_3275 Spondylocarpotarsal synostosis syndrome MONDO:MONDO:0010094,MedGen:C1848934,OMIM:272460,Orphanet:3275 31 31 1.0000 condition_architecture_interpretable 20 0 6 Spondylocarpotarsal_synostosis_syndrome 153 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLCN mondo_mondo_0008259_medgen_c1868193_omim_173600_orphanet_2903 Familial spontaneous pneumothorax MONDO:MONDO:0008259,MedGen:C1868193,OMIM:173600,Orphanet:2903 31 31 1.0000 condition_architecture_interpretable 20 0 31 Familial_spontaneous_pneumothorax 425 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control DYNC2LI1 condition_not_provided condition not provided MedGen:C3661900 31 31 1.0000 condition_record_support_limited 20 31 15 not_provided 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYM mondo_mondo_0009130_medgen_c0265286_omim_223800_orphanet_239 Dyggve-Melchior-Clausen syndrome MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800,Orphanet:239 31 31 1.0000 condition_architecture_interpretable 20 0 12 Dyggve-Melchior-Clausen_syndrome 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF4 condition_not_provided condition not provided MedGen:C3661900 31 31 1.0000 condition_record_support_limited 20 31 12 not_provided 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DGUOK mondo_mondo_0009636_medgen_cn074093_omim_251880_orphanet_279934 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) MONDO:MONDO:0009636,MedGen:CN074093,OMIM:251880,Orphanet:279934 31 31 1.0000 condition_architecture_interpretable 20 0 23 Mitochondrial_DNA_depletion_syndrome_3_(hepatocerebral_type) 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP24A1 condition_not_provided condition not provided MedGen:C3661900 31 31 1.0000 condition_record_support_limited 20 31 17 not_provided 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP11B2 mondo_mondo_0008751_medgen_c0268293_omim_203400_orphanet_427 Corticosterone 18-monooxygenase deficiency MONDO:MONDO:0008751,MedGen:C0268293,OMIM:203400,Orphanet:427 31 31 1.0000 condition_architecture_interpretable 20 0 30 Corticosterone_18-monooxygenase_deficiency 131 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPLANE1 mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 31 31 1.0000 condition_architecture_interpretable 20 0 20 Joubert_syndrome_and_related_disorders 343 large_gene_or_donor_burden_stress_case donor_burden_stress COL3A1 mondo_mondo_0032688_medgen_c5193040_omim_618343_orphanet_636941 Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome MONDO:MONDO:0032688,MedGen:C5193040,OMIM:618343,Orphanet:636941 31 31 1.0000 condition_architecture_interpretable 20 0 23 Polymicrogyria_with_or_without_vascular-type_Ehlers-Danlos_syndrome 937 large_gene_or_donor_burden_stress_case donor_burden_stress CLCN4 mondo_mondo_0010250_medgen_c0796221_omim_300114_orphanet_485350_orphanet_777 Intellectual disability, X-linked 49 MONDO:MONDO:0010250,MedGen:C0796221,OMIM:300114,Orphanet:485350,Orphanet:777 31 31 1.0000 condition_architecture_interpretable 20 0 5 Intellectual_disability,_X-linked_49 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP104 mondo_mondo_0014770_medgen_c4084842_omim_616781_orphanet_475 Joubert syndrome 25 MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475 31 31 1.0000 condition_architecture_interpretable 20 0 18 Joubert_syndrome_25 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C1S condition_not_provided condition not provided MedGen:C3661900 31 31 1.0000 condition_record_support_limited 20 31 3 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C17ORF107 mondo_mondo_0014586_medgen_c4225369_omim_616324_orphanet_590 Congenital myasthenic syndrome 4B MONDO:MONDO:0014586,MedGen:C4225369,OMIM:616324,Orphanet:590 31 31 1.0000 condition_architecture_interpretable 20 0 28 Congenital_myasthenic_syndrome_4B 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BSCL2 mondo_mondo_0010020_medgen_c1720863_omim_269700_orphanet_528_orphanet_696289 Congenital generalized lipodystrophy type 2 MONDO:MONDO:0010020,MedGen:C1720863,OMIM:269700,Orphanet:528,Orphanet:696289 31 31 1.0000 condition_architecture_interpretable 20 0 21 Congenital_generalized_lipodystrophy_type_2 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2A2 mondo_mondo_0007417_medgen_c0022595_omim_124200_orphanet_218 Keratosis follicularis MONDO:MONDO:0007417,MedGen:C0022595,OMIM:124200,Orphanet:218 31 31 1.0000 condition_architecture_interpretable 20 0 7 Keratosis_follicularis 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APC mondo_mondo_0017790_medgen_c4749917_omim_619182_orphanet_314022 Gastric adenocarcinoma and proximal polyposis of the stomach MONDO:MONDO:0017790,MedGen:C4749917,OMIM:619182,Orphanet:314022 31 31 1.0000 condition_architecture_interpretable 20 0 31 Gastric_adenocarcinoma_and_proximal_polyposis_of_the_stomach 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ALDH18A1 mondo_mondo_0017569_medgen_c0268354_orphanet_2962 de Barsy syndrome MONDO:MONDO:0017569,MedGen:C0268354,Orphanet:2962 31 31 1.0000 condition_architecture_interpretable 20 0 31 de_Barsy_syndrome 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH18A1 mondo_mondo_0015091_medgen_c1832669 Autosomal dominant spastic paraplegia type 9 MONDO:MONDO:0015091,MedGen:C1832669 31 31 1.0000 condition_architecture_interpretable 20 0 31 Autosomal_dominant_spastic_paraplegia_type_9 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGBL5 condition_not_provided condition not provided MedGen:C3661900 31 31 1.0000 condition_record_support_limited 20 31 1 not_provided 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC2 abcc2_related_disorder ABCC2-related disorder . 31 31 1.0000 condition_architecture_interpretable 20 0 26 ABCC2-related_disorder 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZMPSTE24 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 30 30 1.0000 condition_record_support_limited 20 30 12 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZMIZ1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 30 30 1.0000 condition_record_support_limited 20 30 11 See_cases|not_provided|not_specified 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSPAN12 condition_not_provided condition not provided MedGen:C3661900 30 30 1.0000 condition_record_support_limited 20 30 9 not_provided 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSPAN1 mondo_mondo_0018276_medgen_c5679911_orphanet_370953 Muscular dystrophy-dystroglycanopathy MONDO:MONDO:0018276,MedGen:C5679911,Orphanet:370953 30 30 1.0000 condition_architecture_interpretable 20 0 30 Muscular_dystrophy-dystroglycanopathy 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG11 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 30 30 1.0000 condition_architecture_interpretable 20 0 26 Inborn_genetic_diseases 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SNX14 mondo_mondo_0014601_medgen_c5190595_omim_616354_orphanet_397709 Autosomal recessive spinocerebellar ataxia 20 MONDO:MONDO:0014601,MedGen:C5190595,OMIM:616354,Orphanet:397709 30 30 1.0000 condition_architecture_interpretable 20 0 7 Autosomal_recessive_spinocerebellar_ataxia_20 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC7A9 condition_not_provided condition not provided MedGen:C3661900 30 30 1.0000 condition_record_support_limited 20 30 16 not_provided 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SIL1 mondo_mondo_0009567_medgen_c0024814_omim_248800_orphanet_559 Marinesco-Sjögren syndrome MONDO:MONDO:0009567,MedGen:C0024814,OMIM:248800,Orphanet:559 30 30 1.0000 condition_architecture_interpretable 20 0 5 Marinesco-Sjögren_syndrome 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SHH condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 30 30 1.0000 condition_record_support_limited 20 30 12 See_cases|not_provided 125 compact_adjacent_exon_block_opportunity local_compact_architecture SH3TC2 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 30 30 1.0000 condition_architecture_interpretable 20 0 28 Charcot-Marie-Tooth_disease 162 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SF3B4 mondo_mondo_0007943_medgen_c0265245_omim_154400_orphanet_245 Nager syndrome MONDO:MONDO:0007943,MedGen:C0265245,OMIM:154400,Orphanet:245 30 30 1.0000 condition_architecture_interpretable 20 0 5 Nager_syndrome 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD1A mondo_mondo_0033630_medgen_c5436699_omim_619056 Neurodevelopmental disorder with speech impairment and dysmorphic facies MONDO:MONDO:0033630,MedGen:C5436699,OMIM:619056 30 30 1.0000 condition_architecture_interpretable 20 0 4 Neurodevelopmental_disorder_with_speech_impairment_and_dysmorphic_facies 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SBDS mondo_mondo_0044204_medgen_c4692625_omim_260400 Shwachman-Diamond syndrome 1 MONDO:MONDO:0044204,MedGen:C4692625,OMIM:260400 30 30 1.0000 condition_architecture_interpretable 20 0 18 Shwachman-Diamond_syndrome_1 48 compact_adjacent_exon_block_opportunity local_compact_architecture SALL1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 30 30 1.0000 condition_record_support_limited 20 30 8 not_provided 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1L rpgrip1l_related_disorder RPGRIP1L-related disorder MedGen:CN239416 30 30 1.0000 condition_architecture_interpretable 20 0 27 RPGRIP1L-related_disorder 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNF43 mondo_mondo_0014919_medgen_c4310714_omim_617108_orphanet_157798 Sessile serrated polyposis cancer syndrome MONDO:MONDO:0014919,MedGen:C4310714,OMIM:617108,Orphanet:157798 30 30 1.0000 condition_architecture_interpretable 20 0 1 Sessile_serrated_polyposis_cancer_syndrome 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNF168 condition_not_provided condition not provided MedGen:C3661900 30 30 1.0000 condition_record_support_limited 20 30 6 not_provided 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RMND1 mondo_mondo_0013969_medgen_c5190991_omim_614922_orphanet_324535 Combined oxidative phosphorylation defect type 11 MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922,Orphanet:324535 30 30 1.0000 condition_architecture_interpretable 20 0 11 Combined_oxidative_phosphorylation_defect_type_11 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RDH5 human_phenotype_ontology_hp_0030642_mondo_mondo_0007639_medgen_c0311338_omim_136880_orphanet_227796_orphanet_52427 Pigmentary retinal dystrophy Human_Phenotype_Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880,Orphanet:227796,Orphanet:52427 30 30 1.0000 condition_architecture_interpretable 20 0 18 Pigmentary_retinal_dystrophy 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RCBTB1 condition_not_provided condition not provided MedGen:C3661900 30 30 1.0000 condition_record_support_limited 20 30 5 not_provided 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBP3 condition_not_provided condition not provided MedGen:C3661900 30 30 1.0000 condition_record_support_limited 20 30 7 not_provided 41 compact_adjacent_exon_block_opportunity local_compact_architecture RAG1 human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 30 30 1.0000 condition_architecture_interpretable 20 0 30 Severe_combined_immunodeficiency_disease 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD50 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 30 30 1.0000 condition_record_support_limited 20 30 28 See_cases|not_provided 483 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUS7 mondo_mondo_0032687_medgen_c5193039_omim_618342 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature MONDO:MONDO:0032687,MedGen:C5193039,OMIM:618342 30 30 1.0000 condition_architecture_interpretable 20 0 4 Intellectual_developmental_disorder_with_abnormal_behavior,_microcephaly,_and_short_stature 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTEN mondo_mondo_0011789_medgen_c3551915_omim_607174_orphanet_263662 Familial meningioma MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174,Orphanet:263662 30 30 1.0000 condition_architecture_interpretable 20 0 30 Familial_meningioma 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PSAT1 mondo_mondo_0014466_medgen_c4015019_omim_616038_orphanet_2671_orphanet_583602 Neu-Laxova syndrome 2 MONDO:MONDO:0014466,MedGen:C4015019,OMIM:616038,Orphanet:2671,Orphanet:583602 30 30 1.0000 condition_architecture_interpretable 20 0 10 Neu-Laxova_syndrome_2 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PORCN condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 30 30 1.0000 condition_record_support_limited 20 30 9 not_provided 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMP22 condition_not_provided condition not provided MedGen:C3661900 30 30 1.0000 condition_record_support_limited 20 30 22 not_provided 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLK4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 30 30 1.0000 condition_record_support_limited 20 30 2 not_provided 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD1L1 condition_not_provided condition not provided MedGen:C3661900 30 30 1.0000 condition_record_support_limited 20 30 8 not_provided 60 large_gene_or_donor_burden_stress_case donor_burden_stress PITX2 mondo_mondo_0007662_medgen_c1842031_omim_137600_orphanet_91483 Anterior segment dysgenesis 4 MONDO:MONDO:0007662,MedGen:C1842031,OMIM:137600,Orphanet:91483 30 30 1.0000 condition_architecture_interpretable 20 0 29 Anterior_segment_dysgenesis_4 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NUS1 mondo_mondo_0030921_medgen_c4693371_omim_617831 Intellectual disability, autosomal dominant 55, with seizures MONDO:MONDO:0030921,MedGen:C4693371,OMIM:617831 30 30 1.0000 condition_architecture_interpretable 20 0 6 Intellectual_disability,_autosomal_dominant_55,_with_seizures 81 compact_adjacent_exon_block_opportunity local_compact_architecture NOTCH1 mondo_mondo_0024523_medgen_c3887892_omim_109730 Aortic valve disease 1 MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730 30 30 1.0000 condition_architecture_interpretable 20 0 14 Aortic_valve_disease_1 163 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NDUFS1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 30 30 1.0000 condition_record_support_limited 20 30 8 See_cases|not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO7A myo7a_related_disorder MYO7A-related disorder . 30 30 1.0000 condition_architecture_interpretable 20 0 25 MYO7A-related_disorder 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO18B mondo_mondo_0014689_medgen_c4225285_omim_616549_orphanet_447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:MONDO:0014689,MedGen:C4225285,OMIM:616549,Orphanet:447974 30 30 1.0000 condition_architecture_interpretable 20 0 15 Klippel-Feil_anomaly-myopathy-facial_dysmorphism_syndrome 140 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH9 condition_not_provided condition not provided MedGen:C3661900 30 30 1.0000 condition_record_support_limited 20 30 19 not_provided 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH7 mondo_mondo_0009711_medgen_c0546264_orphanet_2020 Congenital myopathy with fiber type disproportion MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020 30 30 1.0000 condition_architecture_interpretable 20 0 29 Congenital_myopathy_with_fiber_type_disproportion 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED13 mondo_mondo_0032485_medgen_c5231400_omim_618009 Intellectual developmental disorder 61 MONDO:MONDO:0032485,MedGen:C5231400,OMIM:618009 30 30 1.0000 condition_architecture_interpretable 20 0 6 Intellectual_developmental_disorder_61 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MECP2 medgen_c5880921 MECP2-related disorder MedGen:C5880921 30 30 1.0000 condition_architecture_interpretable 20 0 27 MECP2-related_disorder 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAX mondo_mondo_0017366_medgen_c4274332_omim_ps168000_orphanet_29072 Hereditary pheochromocytoma and paraganglioma MONDO:MONDO:0017366,MedGen:C4274332,OMIM:PS168000,Orphanet:29072 30 30 1.0000 condition_architecture_interpretable 20 0 13 Hereditary_pheochromocytoma_and_paraganglioma 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARGE1 mondo_mondo_0012138_medgen_c1837229_omim_608840 Muscular dystrophy-dystroglycanopathy type B6 MONDO:MONDO:0012138,MedGen:C1837229,OMIM:608840 30 30 1.0000 condition_architecture_interpretable 20 0 2 Muscular_dystrophy-dystroglycanopathy_type_B6 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMB3 mondo_mondo_0017612_medgen_c0079301_omim_ps226650_orphanet_305 Junctional epidermolysis bullosa MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305 30 30 1.0000 condition_architecture_interpretable 20 0 24 Junctional_epidermolysis_bullosa 305 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture L1CAM mondo_mondo_0010559_medgen_c0795953_omim_303350_orphanet_2466 MASA syndrome MONDO:MONDO:0010559,MedGen:C0795953,OMIM:303350,Orphanet:2466 30 30 1.0000 condition_architecture_interpretable 20 0 20 MASA_syndrome 203 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KLHL41 mondo_mondo_0014326_medgen_c3810384_omim_615731 Nemaline myopathy 9 MONDO:MONDO:0014326,MedGen:C3810384,OMIM:615731 30 30 1.0000 condition_architecture_interpretable 20 0 2 Nemaline_myopathy_9 32 compact_adjacent_exon_block_opportunity local_compact_architecture KDM5C human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 30 30 1.0000 condition_architecture_interpretable 20 0 10 Spastic_paraplegia 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B mondo_mondo_0100038_medgen_c5568766_orphanet_528084 Complex neurodevelopmental disorder MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 30 30 1.0000 condition_architecture_interpretable 20 0 25 Complex_neurodevelopmental_disorder 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAO1 mondo_mondo_0060491_medgen_c4479569_omim_617493 Neurodevelopmental disorder with involuntary movements MONDO:MONDO:0060491,MedGen:C4479569,OMIM:617493 30 30 1.0000 condition_architecture_interpretable 20 0 20 Neurodevelopmental_disorder_with_involuntary_movements 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA1 mondo_mondo_0007488_medgen_c0752347_omim_127750 Lewy body dementia MONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750 30 30 1.0000 condition_architecture_interpretable 20 0 28 Lewy_body_dementia 360 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXC2 mondo_mondo_0007922_medgen_c0265345_omim_153400_orphanet_33001 Distichiasis-lymphedema syndrome MONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400,Orphanet:33001 30 30 1.0000 condition_architecture_interpretable 20 0 5 Distichiasis-lymphedema_syndrome 57 single_exon_hotspot_opportunity local_compact_architecture FERMT1 mondo_mondo_0008260_medgen_c0406557_omim_173650_orphanet_2908_orphanet_306539 Kindler syndrome MONDO:MONDO:0008260,MedGen:C0406557,OMIM:173650,Orphanet:2908,Orphanet:306539 30 30 1.0000 condition_architecture_interpretable 20 0 7 Kindler_syndrome 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FA2H human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 30 30 1.0000 condition_architecture_interpretable 20 0 15 Spastic_paraplegia 63 compact_adjacent_exon_block_opportunity local_compact_architecture ERCC8 mondo_mondo_0013829_medgen_c3553298_omim_614621_orphanet_178338 UV-sensitive syndrome 2 MONDO:MONDO:0013829,MedGen:C3553298,OMIM:614621,Orphanet:178338 30 30 1.0000 condition_architecture_interpretable 20 0 30 UV-sensitive_syndrome_2 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPG5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 30 30 1.0000 condition_record_support_limited 20 30 16 not_provided 213 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EMD condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 30 30 1.0000 condition_record_support_limited 20 30 22 not_provided 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2B1 condition_not_provided condition not provided .|MedGen:C3661900 30 30 1.0000 condition_record_support_limited 20 30 5 See_cases|not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC2LI1 mondo_mondo_0008863_medgen_c0342907_omim_ps210250_orphanet_2882 Sitosterolemia MONDO:MONDO:0008863,MedGen:C0342907,OMIM:PS210250,Orphanet:2882 30 30 1.0000 condition_architecture_interpretable 20 0 11 Sitosterolemia 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYM condition_not_provided condition not provided MedGen:C3661900 30 30 1.0000 condition_record_support_limited 20 30 11 not_provided 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOCK2 mondo_mondo_0014637_medgen_c4225328_omim_616433_orphanet_447737 DOCK2 deficiency MONDO:MONDO:0014637,MedGen:C4225328,OMIM:616433,Orphanet:447737 30 30 1.0000 condition_architecture_interpretable 20 0 0 DOCK2_deficiency 34 large_gene_or_donor_burden_stress_case donor_burden_stress DNAI2 mondo_mondo_0012906_medgen_c2676235_omim_612444_orphanet_244 Primary ciliary dyskinesia 9 MONDO:MONDO:0012906,MedGen:C2676235,OMIM:612444,Orphanet:244 30 30 1.0000 condition_architecture_interpretable 20 0 19 Primary_ciliary_dyskinesia_9 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDHD2 mondo_mondo_0014018_medgen_c3539495_omim_615033_orphanet_320380 Hereditary spastic paraplegia 54 MONDO:MONDO:0014018,MedGen:C3539495,OMIM:615033,Orphanet:320380 30 30 1.0000 condition_architecture_interpretable 20 0 7 Hereditary_spastic_paraplegia_54 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCHS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 30 30 1.0000 condition_record_support_limited 20 30 1 not_provided 40 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CYP2U1 mondo_mondo_0014015_medgen_c3539507_omim_615030_orphanet_320411 Hereditary spastic paraplegia 56 MONDO:MONDO:0014015,MedGen:C3539507,OMIM:615030,Orphanet:320411 30 30 1.0000 condition_architecture_interpretable 20 0 9 Hereditary_spastic_paraplegia_56 51 compact_adjacent_exon_block_opportunity local_compact_architecture CYP1B1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 30 30 1.0000 condition_record_support_limited 20 30 26 not_provided|not_specified 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP11B1 human_phenotype_ontology_hp_0008258_mondo_mondo_0018479_medgen_c0001627_orphanet_418 Congenital adrenal hyperplasia Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418 30 30 1.0000 condition_architecture_interpretable 20 0 22 Congenital_adrenal_hyperplasia 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP11A1 mondo_mondo_0013400_medgen_c3151055_omim_613743_orphanet_168558 Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency MONDO:MONDO:0013400,MedGen:C3151055,OMIM:613743,Orphanet:168558 30 30 1.0000 condition_architecture_interpretable 20 0 14 Congenital_adrenal_insufficiency_with_46,_XY_sex_reversal_OR_46,XY_disorder_of_sex_development-adrenal_insufficiency_due_to_CYP11A1_deficiency 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL13A1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 30 30 1.0000 condition_record_support_limited 20 30 6 See_cases|not_provided 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNTNAP2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 30 30 1.0000 condition_record_support_limited 20 30 14 See_cases|not_provided 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHEK2 mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 Familial prostate cancer MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 30 30 1.0000 condition_architecture_interpretable 20 0 30 Familial_prostate_cancer 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHAMP1 mondo_mondo_0014699_medgen_c5676894_omim_616579_orphanet_692193 Intellectual disability, autosomal dominant 40 MONDO:MONDO:0014699,MedGen:C5676894,OMIM:616579,Orphanet:692193 30 30 1.0000 condition_architecture_interpretable 20 0 9 Intellectual_disability,_autosomal_dominant_40 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP410 condition_not_provided condition not provided MedGen:C3661900 30 30 1.0000 condition_record_support_limited 20 30 14 not_provided 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CENPF mondo_mondo_0009477_medgen_c1855705_omim_243605_orphanet_444069_orphanet_506307 Stromme syndrome MONDO:MONDO:0009477,MedGen:C1855705,OMIM:243605,Orphanet:444069,Orphanet:506307 30 30 1.0000 condition_architecture_interpretable 20 0 6 Stromme_syndrome 60 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CDKN2A mondo_mondo_0007967_medgen_c1835042_omim_155755_orphanet_252206 Melanoma and neural system tumor syndrome MONDO:MONDO:0007967,MedGen:C1835042,OMIM:155755,Orphanet:252206 30 30 1.0000 condition_architecture_interpretable 20 0 28 Melanoma_and_neural_system_tumor_syndrome 168 compact_adjacent_exon_block_opportunity local_compact_architecture CASK intellectual_disability_cask_related_x_linked Intellectual disability, CASK-related, X-linked MedGen:CN043158 30 30 1.0000 condition_architecture_interpretable 20 0 10 Intellectual_disability,_CASK-related,_X-linked 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNA1A mondo_mondo_0033361_medgen_c4479236_omim_617350 Developmental and epileptic encephalopathy, 52 MONDO:MONDO:0033361,MedGen:C4479236,OMIM:617350 30 30 1.0000 condition_architecture_interpretable 20 0 30 Developmental_and_epileptic_encephalopathy,_52 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BSCL2 mondo_mondo_0018993_medgen_c0270914_orphanet_64746 Charcot-Marie-Tooth disease type 2 MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746 30 30 1.0000 condition_architecture_interpretable 20 0 13 Charcot-Marie-Tooth_disease_type_2 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMPR2 mondo_mondo_0020713_medgen_c3887658_omim_265450_orphanet_31837 Pulmonary venoocclusive disease 1 MONDO:MONDO:0020713,MedGen:C3887658,OMIM:265450,Orphanet:31837 30 30 1.0000 condition_architecture_interpretable 20 0 25 Pulmonary_venoocclusive_disease_1 502 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS10 condition_not_provided condition not provided MedGen:C3661900 30 30 1.0000 condition_record_support_limited 20 30 30 not_provided 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATL1 condition_not_provided condition not provided MedGen:C3661900 30 30 1.0000 condition_record_support_limited 20 30 20 not_provided 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGPAT2 mondo_mondo_0012071_medgen_c1720862_omim_608594_orphanet_528_orphanet_696189 Congenital generalized lipodystrophy type 1 MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594,Orphanet:528,Orphanet:696189 30 30 1.0000 condition_architecture_interpretable 20 0 10 Congenital_generalized_lipodystrophy_type_1 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZC4H2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 29 29 1.0000 condition_record_support_limited 20 29 12 See_cases|not_provided 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZC4H2 gene_4183_mondo_mondo_0010758_medgen_c0796200_omim_314580_orphanet_3454_orphanet_85283 Wieacker-Wolff syndrome Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580,Orphanet:3454,Orphanet:85283 29 29 1.0000 condition_architecture_interpretable 20 0 14 Wieacker-Wolff_syndrome 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YY1 mondo_mondo_0044738_medgen_c4479652_omim_617557_orphanet_506358 Gabriele de Vries syndrome MONDO:MONDO:0044738,MedGen:C4479652,OMIM:617557,Orphanet:506358 29 29 1.0000 condition_architecture_interpretable 20 0 3 Gabriele_de_Vries_syndrome 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WNT1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 29 29 1.0000 condition_record_support_limited 20 29 6 See_cases|not_provided 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WASHC5 mondo_mondo_0011339_medgen_c1863704_omim_603563_orphanet_100989 Hereditary spastic paraplegia 8 MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563,Orphanet:100989 29 29 1.0000 condition_architecture_interpretable 20 0 20 Hereditary_spastic_paraplegia_8 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VLDLR mondo_mondo_0024542_medgen_c4551552_omim_224050_orphanet_1766 Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 MONDO:MONDO:0024542,MedGen:C4551552,OMIM:224050,Orphanet:1766 29 29 1.0000 condition_architecture_interpretable 20 0 8 Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_1 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USP53 mondo_mondo_0030503_medgen_c5562043_omim_619658 Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss MONDO:MONDO:0030503,MedGen:C5562043,OMIM:619658 29 29 1.0000 condition_architecture_interpretable 20 0 9 Cholestasis,_progressive_familial_intrahepatic,_7,_with_or_without_hearing_loss 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USH1G condition_not_provided condition not provided MedGen:C3661900 29 29 1.0000 condition_record_support_limited 20 29 11 not_provided 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A9 mondo_mondo_0011725_medgen_c2931132_omim_606785_orphanet_205_orphanet_79235 Crigler-Najjar syndrome, type II MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235 29 29 1.0000 condition_architecture_interpretable 20 0 25 Crigler-Najjar_syndrome,_type_II 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A8 mondo_mondo_0011725_medgen_c2931132_omim_606785_orphanet_205_orphanet_79235 Crigler-Najjar syndrome, type II MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235 29 29 1.0000 condition_architecture_interpretable 20 0 25 Crigler-Najjar_syndrome,_type_II 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A7 mondo_mondo_0011725_medgen_c2931132_omim_606785_orphanet_205_orphanet_79235 Crigler-Najjar syndrome, type II MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235 29 29 1.0000 condition_architecture_interpretable 20 0 25 Crigler-Najjar_syndrome,_type_II 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A6 mondo_mondo_0011725_medgen_c2931132_omim_606785_orphanet_205_orphanet_79235 Crigler-Najjar syndrome, type II MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235 29 29 1.0000 condition_architecture_interpretable 20 0 25 Crigler-Najjar_syndrome,_type_II 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A5 mondo_mondo_0011725_medgen_c2931132_omim_606785_orphanet_205_orphanet_79235 Crigler-Najjar syndrome, type II MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235 29 29 1.0000 condition_architecture_interpretable 20 0 25 Crigler-Najjar_syndrome,_type_II 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A4 mondo_mondo_0011725_medgen_c2931132_omim_606785_orphanet_205_orphanet_79235 Crigler-Najjar syndrome, type II MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235 29 29 1.0000 condition_architecture_interpretable 20 0 25 Crigler-Najjar_syndrome,_type_II 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A3 mondo_mondo_0011725_medgen_c2931132_omim_606785_orphanet_205_orphanet_79235 Crigler-Najjar syndrome, type II MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235 29 29 1.0000 condition_architecture_interpretable 20 0 25 Crigler-Najjar_syndrome,_type_II 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A10 mondo_mondo_0011725_medgen_c2931132_omim_606785_orphanet_205_orphanet_79235 Crigler-Najjar syndrome, type II MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235 29 29 1.0000 condition_architecture_interpretable 20 0 25 Crigler-Najjar_syndrome,_type_II 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A1 mondo_mondo_0011725_medgen_c2931132_omim_606785_orphanet_205_orphanet_79235 Crigler-Najjar syndrome, type II MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235 29 29 1.0000 condition_architecture_interpretable 20 0 25 Crigler-Najjar_syndrome,_type_II 80 compact_adjacent_exon_block_opportunity local_compact_architecture TYR mondo_mondo_0018135_medgen_c0268494_orphanet_352731 Oculocutaneous albinism type 1 MONDO:MONDO:0018135,MedGen:C0268494,Orphanet:352731 29 29 1.0000 condition_architecture_interpretable 20 0 24 Oculocutaneous_albinism_type_1 311 compact_adjacent_exon_block_opportunity local_compact_architecture TSHR mondo_mondo_0012203_medgen_c1836706_omim_609152_orphanet_424 Familial hyperthyroidism due to mutations in TSH receptor MONDO:MONDO:0012203,MedGen:C1836706,OMIM:609152,Orphanet:424 29 29 1.0000 condition_architecture_interpretable 20 0 20 Familial_hyperthyroidism_due_to_mutations_in_TSH_receptor 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNFRSF1A mondo_mondo_0007727_medgen_c1275126_omim_142680_orphanet_32960 TNF receptor-associated periodic fever syndrome (TRAPS) MONDO:MONDO:0007727,MedGen:C1275126,OMIM:142680,Orphanet:32960 29 29 1.0000 condition_architecture_interpretable 20 0 14 TNF_receptor-associated_periodic_fever_syndrome_(TRAPS) 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERT condition_not_provided condition not provided MedGen:C3661900 29 29 1.0000 condition_record_support_limited 20 29 22 not_provided 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERC mondo_mondo_0007485_medgen_c4551974_omim_127550_orphanet_1775 Dyskeratosis congenita, autosomal dominant 1 MONDO:MONDO:0007485,MedGen:C4551974,OMIM:127550,Orphanet:1775 29 29 1.0000 condition_architecture_interpretable 20 0 7 Dyskeratosis_congenita,_autosomal_dominant_1 49 single_exon_hotspot_opportunity local_compact_architecture TBX3 mondo_mondo_0008411_medgen_c1866994_omim_181450_orphanet_3138 Ulnar-mammary syndrome MONDO:MONDO:0008411,MedGen:C1866994,OMIM:181450,Orphanet:3138 29 29 1.0000 condition_architecture_interpretable 20 0 1 Ulnar-mammary_syndrome 37 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 mondo_mondo_0011627_medgen_c1853755_omim_606053 Intellectual developmental disorder with autism and speech delay MONDO:MONDO:0011627,MedGen:C1853755,OMIM:606053 29 29 1.0000 condition_architecture_interpretable 20 0 4 Intellectual_developmental_disorder_with_autism_and_speech_delay 69 compact_adjacent_exon_block_opportunity local_compact_architecture SUCLG1 mondo_mondo_0009504_medgen_c3151476_omim_245400_orphanet_17 Mitochondrial DNA depletion syndrome 9 MONDO:MONDO:0009504,MedGen:C3151476,OMIM:245400,Orphanet:17 29 29 1.0000 condition_architecture_interpretable 20 0 1 Mitochondrial_DNA_depletion_syndrome_9 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SRRM2 mondo_mondo_0957397_medgen_c5830612_omim_620439_orphanet_652487 Intellectual developmental disorder, autosomal dominant 72 MONDO:MONDO:0957397,MedGen:C5830612,OMIM:620439,Orphanet:652487 29 29 1.0000 condition_architecture_interpretable 20 0 8 Intellectual_developmental_disorder,_autosomal_dominant_72 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SMARCC2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 29 29 1.0000 condition_record_support_limited 20 29 10 not_provided 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCC2 mondo_mondo_0032702_medgen_c5193054_omim_618362 Coffin-Siris syndrome 8 MONDO:MONDO:0032702,MedGen:C5193054,OMIM:618362 29 29 1.0000 condition_architecture_interpretable 20 0 8 Coffin-Siris_syndrome_8 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD6 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 29 29 1.0000 condition_record_support_limited 20 29 11 See_cases|not_provided 82 compact_adjacent_exon_block_opportunity local_compact_architecture SLC6A19 mondo_mondo_0009324_medgen_c0018609_omim_234500_orphanet_2116 Neutral 1 amino acid transport defect MONDO:MONDO:0009324,MedGen:C0018609,OMIM:234500,Orphanet:2116 29 29 1.0000 condition_architecture_interpretable 20 0 9 Neutral_1_amino_acid_transport_defect 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC16A2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 29 29 1.0000 condition_record_support_limited 20 29 13 not_provided 112 compact_adjacent_exon_block_opportunity local_compact_architecture SDHAF2 mondo_mondo_0017366_medgen_c4274332_omim_ps168000_orphanet_29072 Hereditary pheochromocytoma and paraganglioma MONDO:MONDO:0017366,MedGen:C4274332,OMIM:PS168000,Orphanet:29072 29 29 1.0000 condition_architecture_interpretable 20 0 18 Hereditary_pheochromocytoma_and_paraganglioma 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCO2 mondo_mondo_0011451_medgen_c5399977_omim_604377_orphanet_1561 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377,Orphanet:1561 29 29 1.0000 condition_architecture_interpretable 20 0 19 Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1 110 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SCN2A mondo_mondo_0030064_medgen_c5394520_omim_618924 Episodic ataxia, type 9 MONDO:MONDO:0030064,MedGen:C5394520,OMIM:618924 29 29 1.0000 condition_architecture_interpretable 20 0 24 Episodic_ataxia,_type_9 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SAMHD1 mondo_mondo_0018866_medgen_c0393591_omim_ps225750_orphanet_51 Aicardi Goutieres syndrome MONDO:MONDO:0018866,MedGen:C0393591,OMIM:PS225750,Orphanet:51 29 29 1.0000 condition_architecture_interpretable 20 0 23 Aicardi_Goutieres_syndrome 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL5 mondo_mondo_0012937_medgen_c2931850_omim_612561_orphanet_124 Diamond-Blackfan anemia 6 MONDO:MONDO:0012937,MedGen:C2931850,OMIM:612561,Orphanet:124 29 29 1.0000 condition_architecture_interpretable 20 0 9 Diamond-Blackfan_anemia_6 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RMRP mondo_mondo_0009601_medgen_c1834821_omim_250460 Metaphyseal dysplasia without hypotrichosis MONDO:MONDO:0009601,MedGen:C1834821,OMIM:250460 29 29 1.0000 condition_architecture_interpretable 20 0 28 Metaphyseal_dysplasia_without_hypotrichosis 302 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation RAD51C mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 29 29 1.0000 condition_architecture_interpretable 20 0 28 Hereditary_breast_ovarian_cancer_syndrome 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTPRQ mondo_mondo_0013249_medgen_c3150654_omim_613391_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 84A MONDO:MONDO:0013249,MedGen:C3150654,OMIM:613391,Orphanet:90636 29 29 1.0000 condition_architecture_interpretable 20 0 4 Autosomal_recessive_nonsyndromic_hearing_loss_84A 60 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PLOD3 condition_not_provided condition not provided MedGen:C3661900 29 29 1.0000 condition_record_support_limited 20 29 2 not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6A human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 29 29 1.0000 condition_architecture_interpretable 20 0 15 Retinitis_pigmentosa 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDCD10 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 29 29 1.0000 condition_record_support_limited 20 29 12 not_provided 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCCB condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 29 29 1.0000 condition_record_support_limited 20 29 23 not_provided|not_specified 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NT5C2 mondo_mondo_0013165_medgen_c3888209_omim_613162_orphanet_320396 Hereditary spastic paraplegia 45 MONDO:MONDO:0013165,MedGen:C3888209,OMIM:613162,Orphanet:320396 29 29 1.0000 condition_architecture_interpretable 20 0 3 Hereditary_spastic_paraplegia_45 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NSD1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 29 29 1.0000 condition_architecture_interpretable 20 0 11 Inborn_genetic_diseases 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NR2E3 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 29 29 1.0000 condition_architecture_interpretable 20 0 24 Retinal_dystrophy 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFV1 mondo_mondo_0032609_medgen_c4748753_omim_618225 Mitochondrial complex I deficiency, nuclear type 4 MONDO:MONDO:0032609,MedGen:C4748753,OMIM:618225 29 29 1.0000 condition_architecture_interpretable 20 0 16 Mitochondrial_complex_I_deficiency,_nuclear_type_4 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCAPH2 mondo_mondo_0011451_medgen_c5399977_omim_604377_orphanet_1561 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377,Orphanet:1561 29 29 1.0000 condition_architecture_interpretable 20 0 19 Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO3A mondo_mondo_0011774_medgen_c1846784_omim_607101_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 30 MONDO:MONDO:0011774,MedGen:C1846784,OMIM:607101,Orphanet:90636 29 29 1.0000 condition_architecture_interpretable 20 0 6 Autosomal_recessive_nonsyndromic_hearing_loss_30 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 mybpc3_related_disorder MYBPC3-related disorder . 29 29 1.0000 condition_architecture_interpretable 20 0 27 MYBPC3-related_disorder 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSH6 inherited_mmr_deficiency_lynch_syndrome Inherited MMR deficiency (Lynch syndrome) . 29 29 1.0000 condition_architecture_interpretable 20 0 24 Inherited_MMR_deficiency_(Lynch_syndrome) 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH6 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 29 29 1.0000 condition_architecture_interpretable 20 0 21 Gastric_cancer 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MNX1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 29 29 1.0000 condition_record_support_limited 20 29 3 not_provided 50 compact_adjacent_exon_block_opportunity local_compact_architecture MEIS2 mondo_mondo_0010970_medgen_c1832950_omim_600987 Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies MONDO:MONDO:0010970,MedGen:C1832950,OMIM:600987 29 29 1.0000 condition_architecture_interpretable 20 0 6 Cardiac_malformation,_cleft_lip/palate,_microcephaly,_and_digital_anomalies 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED12 mondo_mondo_0010590_medgen_c5399762_omim_305450_orphanet_93932 FG syndrome 1 MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450,Orphanet:93932 29 29 1.0000 condition_architecture_interpretable 20 0 26 FG_syndrome_1 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MECP2 mondo_mondo_0010283_medgen_c1846058_omim_300260_orphanet_1762 Syndromic X-linked intellectual disability Lubs type MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260,Orphanet:1762 29 29 1.0000 condition_architecture_interpretable 20 0 29 Syndromic_X-linked_intellectual_disability_Lubs_type 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MC4R medgen_c4759928_omim_618406 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 MedGen:C4759928,OMIM:618406 29 29 1.0000 condition_architecture_interpretable 20 0 17 BODY_MASS_INDEX_QUANTITATIVE_TRAIT_LOCUS_20 59 single_exon_hotspot_opportunity local_compact_architecture MAPT condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 29 29 1.0000 condition_record_support_limited 20 29 27 not_provided 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF5A mondo_mondo_0011408_medgen_c1858712_omim_604187_orphanet_100991 Hereditary spastic paraplegia 10 MONDO:MONDO:0011408,MedGen:C1858712,OMIM:604187,Orphanet:100991 29 29 1.0000 condition_architecture_interpretable 20 0 12 Hereditary_spastic_paraplegia_10 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM6B condition_not_provided condition not provided .|MedGen:C3661900 29 29 1.0000 condition_record_support_limited 20 29 16 See_cases|not_provided 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF1B human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Type 2 diabetes mellitus Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 29 29 1.0000 condition_architecture_interpretable 20 0 29 Type_2_diabetes_mellitus 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEXB condition_not_provided condition not provided .|MedGen:C3661900 29 29 1.0000 condition_record_support_limited 20 29 25 See_cases|not_provided 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HECW2 mondo_mondo_0014995_medgen_c4310643_omim_617268 Neurodevelopmental disorder with hypotonia, seizures, and absent language MONDO:MONDO:0014995,MedGen:C4310643,OMIM:617268 29 29 1.0000 condition_architecture_interpretable 20 0 9 Neurodevelopmental_disorder_with_hypotonia,_seizures,_and_absent_language 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA1 mondo_mondo_0009768_medgen_c2749477_omim_257850_orphanet_2710 Oculodentodigital dysplasia, autosomal recessive MONDO:MONDO:0009768,MedGen:C2749477,OMIM:257850,Orphanet:2710 29 29 1.0000 condition_architecture_interpretable 20 0 12 Oculodentodigital_dysplasia,_autosomal_recessive 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FYCO1 mondo_mondo_0012395_medgen_c1864908_omim_610019_orphanet_91492_orphanet_98991_orphanet_98992_orphanet_98995 Cataract 18 MONDO:MONDO:0012395,MedGen:C1864908,OMIM:610019,Orphanet:91492,Orphanet:98991,Orphanet:98992,Orphanet:98995 29 29 1.0000 condition_architecture_interpretable 20 0 5 Cataract_18 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FREM1 mondo_mondo_0013774_medgen_c3280974_omim_614485_orphanet_3366 Trigonocephaly 2 MONDO:MONDO:0013774,MedGen:C3280974,OMIM:614485,Orphanet:3366 29 29 1.0000 condition_architecture_interpretable 20 0 29 Trigonocephaly_2 71 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FKBP10 mondo_mondo_0012592_medgen_c3151218_omim_610968_orphanet_666 Osteogenesis imperfecta type 11 MONDO:MONDO:0012592,MedGen:C3151218,OMIM:610968,Orphanet:666 29 29 1.0000 condition_architecture_interpretable 20 0 16 Osteogenesis_imperfecta_type_11 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FIG4 mondo_mondo_0012640_medgen_c1970011_omim_611228_orphanet_139515 Charcot-Marie-Tooth disease type 4J MONDO:MONDO:0012640,MedGen:C1970011,OMIM:611228,Orphanet:139515 29 29 1.0000 condition_architecture_interpretable 20 0 28 Charcot-Marie-Tooth_disease_type_4J 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FECH mondo_mondo_0008319_medgen_c4692546_omim_177000_orphanet_79278 Protoporphyria, erythropoietic, 1 MONDO:MONDO:0008319,MedGen:C4692546,OMIM:177000,Orphanet:79278 29 29 1.0000 condition_architecture_interpretable 20 0 15 Protoporphyria,_erythropoietic,_1 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EVC condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 29 29 1.0000 condition_record_support_limited 20 29 20 See_cases|not_provided 320 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC5 mondo_mondo_0010216_medgen_c0268141_omim_278780 Xeroderma pigmentosum, group G MONDO:MONDO:0010216,MedGen:C0268141,OMIM:278780 29 29 1.0000 condition_architecture_interpretable 20 0 18 Xeroderma_pigmentosum,_group_G 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPM2A mondo_mondo_0020074_medgen_c0751778_omim_ps254800_orphanet_308_orphanet_98261 Progressive myoclonic epilepsy MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261 29 29 1.0000 condition_architecture_interpretable 20 0 19 Progressive_myoclonic_epilepsy 55 compact_adjacent_exon_block_opportunity local_compact_architecture EPM2A mondo_mondo_0009697_medgen_c0751783_omim_ps254780_orphanet_501 Lafora disease MONDO:MONDO:0009697,MedGen:C0751783,OMIM:PS254780,Orphanet:501 29 29 1.0000 condition_architecture_interpretable 20 0 23 Lafora_disease 55 compact_adjacent_exon_block_opportunity local_compact_architecture EP300 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 29 29 1.0000 condition_architecture_interpretable 20 0 4 Inborn_genetic_diseases 264 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EIF2B2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 29 29 1.0000 condition_record_support_limited 20 29 16 not_provided 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ECM1 mondo_mondo_0009530_medgen_c0023795_omim_247100_orphanet_530 Lipid proteinosis MONDO:MONDO:0009530,MedGen:C0023795,OMIM:247100,Orphanet:530 29 29 1.0000 condition_architecture_interpretable 20 0 6 Lipid_proteinosis 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DPAGT1 mondo_mondo_0011964_medgen_c2931004_omim_608093_orphanet_86309 DPAGT1-congenital disorder of glycosylation MONDO:MONDO:0011964,MedGen:C2931004,OMIM:608093,Orphanet:86309 29 29 1.0000 condition_architecture_interpretable 20 0 23 DPAGT1-congenital_disorder_of_glycosylation 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1L mondo_mondo_0013726_medgen_c3280660_omim_614388_orphanet_330050 Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 MONDO:MONDO:0013726,MedGen:C3280660,OMIM:614388,Orphanet:330050 29 29 1.0000 condition_architecture_interpretable 20 0 9 Encephalopathy,_lethal,_due_to_defective_mitochondrial_peroxisomal_fission_1 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DMD dystrophin_deficiency Dystrophin deficiency . 29 29 1.0000 condition_architecture_interpretable 20 0 29 Dystrophin_deficiency 2119 large_gene_or_donor_burden_stress_case donor_burden_stress CREBBP mondo_mondo_0020763_medgen_c5193034_omim_618332 Menke-Hennekam syndrome 1 MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332 29 29 1.0000 condition_architecture_interpretable 20 0 20 Menke-Hennekam_syndrome_1 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL5A2 mondo_mondo_0019567_medgen_c0268335_omim_130000 Ehlers-Danlos syndrome, classic type, 1 MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000 29 29 1.0000 condition_architecture_interpretable 20 0 5 Ehlers-Danlos_syndrome,_classic_type,_1 62 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 mondo_mondo_0014701_medgen_c4225273_omim_616583_orphanet_459051 Spondyloepiphyseal dysplasia, Stanescu type MONDO:MONDO:0014701,MedGen:C4225273,OMIM:616583,Orphanet:459051 29 29 1.0000 condition_architecture_interpretable 20 0 27 Spondyloepiphyseal_dysplasia,_Stanescu_type 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A2 mondo_mondo_0030855_medgen_c5436847_omim_619120 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 MONDO:MONDO:0030855,MedGen:C5436847,OMIM:619120 29 29 1.0000 condition_architecture_interpretable 20 0 25 Combined_osteogenesis_imperfecta_and_Ehlers-Danlos_syndrome_2 722 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0000939_human_phenotype_ontology_hp_0002774_mondo_mondo_0005298_medgen_c0029456_omim_166710 Osteoporosis Human_Phenotype_Ontology:HP:0000939,Human_Phenotype_Ontology:HP:0002774,MONDO:MONDO:0005298,MedGen:C0029456,OMIM:166710 29 29 1.0000 condition_architecture_interpretable 20 0 29 Osteoporosis 1430 large_gene_or_donor_burden_stress_case donor_burden_stress CHD7 mondo_mondo_1010178_medgen_cn380413_omim_214800 CHD7-related CHARGE syndrome MONDO:MONDO:1010178,MedGen:CN380413,OMIM:214800 29 29 1.0000 condition_architecture_interpretable 20 0 9 CHD7-related_CHARGE_syndrome 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CERKL human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 29 29 1.0000 condition_architecture_interpretable 20 0 22 Retinal_dystrophy 202 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDAN1 mondo_mondo_0009135_medgen_c5574667_omim_224120 Anemia, congenital dyserythropoietic, type 1a MONDO:MONDO:0009135,MedGen:C5574667,OMIM:224120 29 29 1.0000 condition_architecture_interpretable 20 0 11 Anemia,_congenital_dyserythropoietic,_type_1a 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCNO human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 29 29 1.0000 condition_architecture_interpretable 20 0 9 Primary_ciliary_dyskinesia 37 compact_adjacent_exon_block_opportunity local_compact_architecture CCDC88C mondo_mondo_0014475_medgen_c4518336_omim_616053_orphanet_423275 Spinocerebellar ataxia type 40 MONDO:MONDO:0014475,MedGen:C4518336,OMIM:616053,Orphanet:423275 29 29 1.0000 condition_architecture_interpretable 20 0 28 Spinocerebellar_ataxia_type_40 113 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CASR nephrolithiasis_nephrocalcinosis Nephrolithiasis/nephrocalcinosis MedGen:CN580796 29 29 1.0000 condition_architecture_interpretable 20 0 24 Nephrolithiasis/nephrocalcinosis 313 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN1 mondo_mondo_0014827_medgen_c5567483_omim_616907_orphanet_488594 Autosomal recessive spastic paraplegia type 76 MONDO:MONDO:0014827,MedGen:C5567483,OMIM:616907,Orphanet:488594 29 29 1.0000 condition_architecture_interpretable 20 0 12 Autosomal_recessive_spastic_paraplegia_type_76 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNA1F mondo_mondo_0010241_medgen_c1848172_omim_300071_orphanet_215 Congenital stationary night blindness 2A MONDO:MONDO:0010241,MedGen:C1848172,OMIM:300071,Orphanet:215 29 29 1.0000 condition_architecture_interpretable 20 0 13 Congenital_stationary_night_blindness_2A 189 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A cacna1a_related_disorder CACNA1A-related disorder . 29 29 1.0000 condition_architecture_interpretable 20 0 19 CACNA1A-related_disorder 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BPTF condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 29 29 1.0000 condition_record_support_limited 20 29 7 See_cases|not_provided 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture B3GAT3 mondo_mondo_0009511_medgen_c3278404_omim_245600_orphanet_284139 Larsen-like syndrome, B3GAT3 type MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139 29 29 1.0000 condition_architecture_interpretable 20 0 9 Larsen-like_syndrome,_B3GAT3_type 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP7B atp7b_related_disorder ATP7B-related disorder . 29 29 1.0000 condition_architecture_interpretable 20 0 27 ATP7B-related_disorder 858 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASL condition_not_provided condition not provided MedGen:C3661900 29 29 1.0000 condition_record_support_limited 20 29 26 not_provided 236 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIP mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 29 29 1.0000 condition_architecture_interpretable 20 0 12 Hereditary_cancer-predisposing_syndrome 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADCY10 condition_not_provided condition not provided MedGen:C3661900 29 29 1.0000 condition_record_support_limited 20 29 2 not_provided 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADA2 mondo_mondo_0008436_medgen_c0282492_omim_182410_orphanet_820 Sneddon syndrome MONDO:MONDO:0008436,MedGen:C0282492,OMIM:182410,Orphanet:820 29 29 1.0000 condition_architecture_interpretable 20 0 27 Sneddon_syndrome 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTL6B mondo_mondo_0032768_medgen_c5193113_omim_618468 Developmental and epileptic encephalopathy, 76 MONDO:MONDO:0032768,MedGen:C5193113,OMIM:618468 29 29 1.0000 condition_architecture_interpretable 20 0 10 Developmental_and_epileptic_encephalopathy,_76 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTG2 mondo_mondo_0020754_medgen_c5542197_omim_155310_orphanet_2604 Visceral myopathy 1 MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604 29 29 1.0000 condition_architecture_interpretable 20 0 15 Visceral_myopathy_1 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTG1 mondo_mondo_0013812_medgen_c3281235_omim_614583_orphanet_2995 Baraitser-winter syndrome 2 MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995 29 29 1.0000 condition_architecture_interpretable 20 0 24 Baraitser-winter_syndrome_2 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACE condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 29 29 1.0000 condition_record_support_limited 20 29 14 not_provided 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA4 mondo_mondo_0019353_medgen_c0271093_orphanet_827 Stargardt disease MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827 29 29 1.0000 condition_architecture_interpretable 20 0 9 Stargardt_disease 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 29 29 1.0000 condition_architecture_interpretable 20 0 29 Retinal_disorder 1464 large_gene_or_donor_burden_stress_case donor_burden_stress WT1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 28 28 1.0000 condition_record_support_limited 20 28 14 not_provided 153 compact_adjacent_exon_block_opportunity local_compact_architecture VDR mondo_mondo_0010186_medgen_c0342646_omim_277440_orphanet_93160 Vitamin D-dependent rickets type II with alopecia MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160 28 28 1.0000 condition_architecture_interpretable 20 0 9 Vitamin_D-dependent_rickets_type_II_with_alopecia 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VCP mondo_mondo_0013501_medgen_c5436279_omim_613954_orphanet_275872_orphanet_803 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803 28 28 1.0000 condition_architecture_interpretable 20 0 26 Frontotemporal_dementia_and/or_amyotrophic_lateral_sclerosis_6 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBGCP6 mondo_mondo_0009624_medgen_c3278481_omim_251270 Microcephaly and chorioretinopathy 1 MONDO:MONDO:0009624,MedGen:C3278481,OMIM:251270 28 28 1.0000 condition_architecture_interpretable 20 0 11 Microcephaly_and_chorioretinopathy_1 135 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TREX1 condition_not_provided condition not provided MedGen:C3661900 28 28 1.0000 condition_record_support_limited 20 28 23 not_provided 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TK2 mondo_mondo_0012301_medgen_c3149750_omim_609560_orphanet_254875 Mitochondrial DNA depletion syndrome, myopathic form MONDO:MONDO:0012301,MedGen:C3149750,OMIM:609560,Orphanet:254875 28 28 1.0000 condition_architecture_interpretable 20 0 25 Mitochondrial_DNA_depletion_syndrome,_myopathic_form 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TET3 mondo_mondo_0032922_medgen_c5394097_omim_618798_orphanet_684216 Beck-Fahrner syndrome MONDO:MONDO:0032922,MedGen:C5394097,OMIM:618798,Orphanet:684216 28 28 1.0000 condition_architecture_interpretable 20 0 7 Beck-Fahrner_syndrome 52 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCTN2 mondo_mondo_0013482_medgen_c3836857_omim_613885_orphanet_564 Meckel syndrome, type 8 MONDO:MONDO:0013482,MedGen:C3836857,OMIM:613885,Orphanet:564 28 28 1.0000 condition_architecture_interpretable 20 0 26 Meckel_syndrome,_type_8 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A1 mondo_mondo_0010983_medgen_c1832855_omim_601042_orphanet_53583 Dystonia 9 MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042,Orphanet:53583 28 28 1.0000 condition_architecture_interpretable 20 0 19 Dystonia_9 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SIRT4 mondo_mondo_0971172_medgen_c5935628_omim_620851_orphanet_686488 Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language MONDO:MONDO:0971172,MedGen:C5935628,OMIM:620851,Orphanet:686488 28 28 1.0000 condition_architecture_interpretable 20 0 6 Neurodevelopmental_disorder_with_hypotonia,_brain_anomalies,_distinctive_facies,_and_absent_language 30 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SHOX condition_not_provided condition not provided MedGen:C3661900 28 28 1.0000 condition_record_support_limited 20 28 9 not_provided 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN9A mondo_mondo_0009459_medgen_c1855739_omim_243000_orphanet_88642_orphanet_970 Channelopathy-associated congenital insensitivity to pain, autosomal recessive MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000,Orphanet:88642,Orphanet:970 28 28 1.0000 condition_architecture_interpretable 20 0 13 Channelopathy-associated_congenital_insensitivity_to_pain,_autosomal_recessive 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SBF1 condition_not_provided condition not provided .|MedGen:C3661900 28 28 1.0000 condition_record_support_limited 20 28 3 See_cases|not_provided 37 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RNU4-2 mondo_mondo_0971172_medgen_c5935628_omim_620851_orphanet_686488 Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language MONDO:MONDO:0971172,MedGen:C5935628,OMIM:620851,Orphanet:686488 28 28 1.0000 condition_architecture_interpretable 20 0 6 Neurodevelopmental_disorder_with_hypotonia,_brain_anomalies,_distinctive_facies,_and_absent_language 30 single_exon_hotspot_opportunity local_compact_architecture RIF1 mondo_mondo_0018958_medgen_c0206157_omim_ps161800_omim_ps256030_orphanet_607 Nemaline myopathy MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,OMIM:PS256030,Orphanet:607 28 28 1.0000 condition_architecture_interpretable 20 0 27 Nemaline_myopathy 500 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RERE condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 28 28 1.0000 condition_record_support_limited 20 28 13 not_provided 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture REEP1 condition_not_provided condition not provided MedGen:C3661900 28 28 1.0000 condition_record_support_limited 20 28 14 not_provided 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSAP mondo_mondo_0018868_medgen_c0023522_omim_250100_orphanet_512 Metachromatic leukodystrophy MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,Orphanet:512 28 28 1.0000 condition_architecture_interpretable 20 0 16 Metachromatic_leukodystrophy 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPH2 mondo_mondo_0019353_medgen_c0271093_omim_ps248200_orphanet_827 Stargardt disease MONDO:MONDO:0019353,MedGen:C0271093,OMIM:PS248200,Orphanet:827 28 28 1.0000 condition_architecture_interpretable 20 0 28 Stargardt_disease 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRF1 condition_not_provided condition not provided MedGen:C3661900 28 28 1.0000 condition_record_support_limited 20 28 25 not_provided 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMS2 mondo_mondo_0010159_medgen_c5399763_omim_276300_orphanet_252202 Mismatch repair cancer syndrome 1 MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:252202 28 28 1.0000 condition_architecture_interpretable 20 0 25 Mismatch_repair_cancer_syndrome_1 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PIGB condition_not_provided condition not provided MedGen:C3661900 28 28 1.0000 condition_record_support_limited 20 28 6 not_provided 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX9 mondo_mondo_0011477_medgen_c1970291_omim_604625_orphanet_99798 Tooth agenesis, selective, 3 MONDO:MONDO:0011477,MedGen:C1970291,OMIM:604625,Orphanet:99798 28 28 1.0000 condition_architecture_interpretable 20 0 3 Tooth_agenesis,_selective,_3 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTOF medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 28 28 1.0000 condition_architecture_interpretable 20 0 23 Rare_genetic_deafness 355 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture OTOA mondo_mondo_0011762_medgen_c1846896_omim_607039_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 22 MONDO:MONDO:0011762,MedGen:C1846896,OMIM:607039,Orphanet:90636 28 28 1.0000 condition_architecture_interpretable 20 0 11 Autosomal_recessive_nonsyndromic_hearing_loss_22 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OCA2 oca2_related_disorder OCA2-related disorder . 28 28 1.0000 condition_architecture_interpretable 20 0 24 OCA2-related_disorder 309 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NYX condition_not_provided condition not provided MedGen:C3661900 28 28 1.0000 condition_record_support_limited 20 28 6 not_provided 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NIPAL4 mondo_mondo_0012847_medgen_c2677065_omim_612281_orphanet_313_orphanet_79394 Autosomal recessive congenital ichthyosis 6 MONDO:MONDO:0012847,MedGen:C2677065,OMIM:612281,Orphanet:313,Orphanet:79394 28 28 1.0000 condition_architecture_interpretable 20 0 5 Autosomal_recessive_congenital_ichthyosis_6 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIA condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 28 28 1.0000 condition_record_support_limited 20 28 7 not_provided 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYSM1 condition_not_provided condition not provided MedGen:C3661900 28 28 1.0000 condition_record_support_limited 20 28 3 not_provided 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYRF mondo_mondo_0032653_medgen_c4748946_omim_618280_orphanet_647811 Cardiac-urogenital syndrome MONDO:MONDO:0032653,MedGen:C4748946,OMIM:618280,Orphanet:647811 28 28 1.0000 condition_architecture_interpretable 20 0 6 Cardiac-urogenital_syndrome 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCCC2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 28 28 1.0000 condition_record_support_limited 20 28 25 not_provided 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCCC2 mondo_mondo_0018950_medgen_c4551505_omim_ps210200_orphanet_6 Methylcrotonyl-CoA carboxylase deficiency MONDO:MONDO:0018950,MedGen:C4551505,OMIM:PS210200,Orphanet:6 28 28 1.0000 condition_architecture_interpretable 20 0 25 Methylcrotonyl-CoA_carboxylase_deficiency 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAPT human_phenotype_ontology_hp_0002145_mondo_mondo_0017276_medgen_c0338451_omim_600274_orphanet_282 Frontotemporal dementia Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282 28 28 1.0000 condition_architecture_interpretable 20 0 21 Frontotemporal_dementia 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAN2B1 condition_not_provided condition not provided MedGen:C3661900 28 28 1.0000 condition_record_support_limited 20 28 25 not_provided 358 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP4 mondo_mondo_0013679_medgen_c3280402_omim_614305_orphanet_3152 Sclerosteosis 2 MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305,Orphanet:3152 28 28 1.0000 condition_architecture_interpretable 20 0 28 Sclerosteosis_2 46 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LRP4 mondo_mondo_0014578_medgen_c4225377_omim_616304_orphanet_590 Congenital myasthenic syndrome 17 MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304,Orphanet:590 28 28 1.0000 condition_architecture_interpretable 20 0 28 Congenital_myasthenic_syndrome_17 46 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LPIN1 mondo_mondo_0009992_medgen_c1849386_omim_268200_orphanet_99845 Myoglobinuria, acute recurrent, autosomal recessive MONDO:MONDO:0009992,MedGen:C1849386,OMIM:268200,Orphanet:99845 28 28 1.0000 condition_architecture_interpretable 20 0 12 Myoglobinuria,_acute_recurrent,_autosomal_recessive 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMNA mondo_mondo_0007906_medgen_c1720860_omim_151660_orphanet_2348 Familial partial lipodystrophy, Dunnigan type MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660,Orphanet:2348 28 28 1.0000 condition_architecture_interpretable 20 0 26 Familial_partial_lipodystrophy,_Dunnigan_type 536 compact_adjacent_exon_block_opportunity local_compact_architecture LHCGR mondo_mondo_0009384_medgen_c0266432_omim_238320 Leydig cell agenesis MONDO:MONDO:0009384,MedGen:C0266432,OMIM:238320 28 28 1.0000 condition_architecture_interpretable 20 0 15 Leydig_cell_agenesis 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARS2 mondo_mondo_0014126_medgen_c3809105_omim_615300_orphanet_2855 Perrault syndrome 4 MONDO:MONDO:0014126,MedGen:C3809105,OMIM:615300,Orphanet:2855 28 28 1.0000 condition_architecture_interpretable 20 0 12 Perrault_syndrome_4 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF7 condition_not_provided condition not provided MedGen:C3661900 28 28 1.0000 condition_record_support_limited 20 28 18 not_provided 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF5A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 28 28 1.0000 condition_record_support_limited 20 28 15 not_provided 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCTD7 mondo_mondo_0012721_medgen_c2673257_omim_611726_orphanet_263516 Progressive myoclonic epilepsy type 3 MONDO:MONDO:0012721,MedGen:C2673257,OMIM:611726,Orphanet:263516 28 28 1.0000 condition_architecture_interpretable 20 0 5 Progressive_myoclonic_epilepsy_type_3 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ2 mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 Congenital long QT syndrome MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 28 28 1.0000 condition_architecture_interpretable 20 0 28 Congenital_long_QT_syndrome 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IVD condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 28 28 1.0000 condition_record_support_limited 20 28 23 not_provided 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IHH condition_not_provided condition not provided MedGen:C3661900 28 28 1.0000 condition_record_support_limited 20 28 9 not_provided 48 compact_adjacent_exon_block_opportunity local_compact_architecture IFT43 condition_not_provided condition not provided MedGen:C3661900 28 28 1.0000 condition_record_support_limited 20 28 4 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSD17B4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 28 28 1.0000 condition_record_support_limited 20 28 20 not_provided|not_specified 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HGSNAT condition_not_provided condition not provided MedGen:C3661900 28 28 1.0000 condition_record_support_limited 20 28 23 not_provided 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HDAC8 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 28 28 1.0000 condition_record_support_limited 20 28 10 not_provided 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP1BB mondo_mondo_0009276_mesh_d001606_medgen_c0005129_omim_231200_orphanet_274 Bernard Soulier syndrome MONDO:MONDO:0009276,MeSH:D001606,MedGen:C0005129,OMIM:231200,Orphanet:274 28 28 1.0000 condition_architecture_interpretable 20 0 8 Bernard_Soulier_syndrome 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLE1 mondo_mondo_0012750_medgen_c5193016_omim_611890_orphanet_53696 Lethal arthrogryposis-anterior horn cell disease syndrome MONDO:MONDO:0012750,MedGen:C5193016,OMIM:611890,Orphanet:53696 28 28 1.0000 condition_architecture_interpretable 20 0 24 Lethal_arthrogryposis-anterior_horn_cell_disease_syndrome 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 28 28 1.0000 condition_architecture_interpretable 20 0 27 Hearing_impairment 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA1 mondo_mondo_0008111_medgen_c0812437_omim_164200_orphanet_2710 Oculodentodigital dysplasia MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200,Orphanet:2710 28 28 1.0000 condition_architecture_interpretable 20 0 11 Oculodentodigital_dysplasia 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDAP1 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 28 28 1.0000 condition_architecture_interpretable 20 0 27 Charcot-Marie-Tooth_disease 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FREM2 mondo_mondo_0007410_medgen_c1852453_omim_123570_orphanet_91396 Isolated cryptophthalmia MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570,Orphanet:91396 28 28 1.0000 condition_architecture_interpretable 20 0 28 Isolated_cryptophthalmia 129 compact_adjacent_exon_block_opportunity local_compact_architecture FLT4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 28 28 1.0000 condition_record_support_limited 20 28 10 not_provided 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGA condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 28 28 1.0000 condition_record_support_limited 20 28 15 See_cases|not_provided 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EVC2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 28 28 1.0000 condition_record_support_limited 20 28 23 not_provided|not_specified 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC5 condition_not_provided condition not provided .|MedGen:C3661900 28 28 1.0000 condition_record_support_limited 20 28 12 See_cases|not_provided 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC3 mondo_mondo_0012531_medgen_c0268136_omim_610651 Xeroderma pigmentosum group B MONDO:MONDO:0012531,MedGen:C0268136,OMIM:610651 28 28 1.0000 condition_architecture_interpretable 20 0 23 Xeroderma_pigmentosum_group_B 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYRK1A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 28 28 1.0000 condition_architecture_interpretable 20 0 16 Intellectual_disability 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DONSON condition_not_provided condition not provided .|MedGen:C3661900 28 28 1.0000 condition_record_support_limited 20 28 6 See_cases|not_provided 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIPK1A mondo_mondo_0012937_medgen_c2931850_omim_612561_orphanet_124 Diamond-Blackfan anemia 6 MONDO:MONDO:0012937,MedGen:C2931850,OMIM:612561,Orphanet:124 28 28 1.0000 condition_architecture_interpretable 20 0 8 Diamond-Blackfan_anemia_6 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DEAF1 mondo_mondo_0014357_medgen_c4014414_omim_615828 Intellectual disability, autosomal dominant 24 MONDO:MONDO:0014357,MedGen:C4014414,OMIM:615828 28 28 1.0000 condition_architecture_interpretable 20 0 9 Intellectual_disability,_autosomal_dominant_24 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSRP3 mondo_mondo_0012804_medgen_c2677491_omim_612124 Hypertrophic cardiomyopathy 12 MONDO:MONDO:0012804,MedGen:C2677491,OMIM:612124 28 28 1.0000 condition_architecture_interpretable 20 0 27 Hypertrophic_cardiomyopathy_12 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNKSR2 mondo_mondo_0030909_medgen_c4538788_omim_301008 Intellectual disability, X-linked, syndromic, Houge type MONDO:MONDO:0030909,MedGen:C4538788,OMIM:301008 28 28 1.0000 condition_architecture_interpretable 20 0 3 Intellectual_disability,_X-linked,_syndromic,_Houge_type 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNA1 mondo_mondo_0009668_medgen_c1854678_omim_253290_orphanet_33108 Lethal multiple pterygium syndrome MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108 28 28 1.0000 condition_architecture_interpretable 20 0 8 Lethal_multiple_pterygium_syndrome 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFI mondo_mondo_0013041_medgen_c2752039_omim_612923_orphanet_2134 Atypical hemolytic-uremic syndrome with I factor anomaly MONDO:MONDO:0013041,MedGen:C2752039,OMIM:612923,Orphanet:2134 28 28 1.0000 condition_architecture_interpretable 20 0 22 Atypical_hemolytic-uremic_syndrome_with_I_factor_anomaly 124 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP63 condition_not_provided condition not provided MedGen:C3661900 28 28 1.0000 condition_record_support_limited 20 28 1 not_provided 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP120 mondo_mondo_0014577_medgen_c4225378_omim_616300_orphanet_474 Short-rib thoracic dysplasia 13 with or without polydactyly MONDO:MONDO:0014577,MedGen:C4225378,OMIM:616300,Orphanet:474 28 28 1.0000 condition_architecture_interpretable 20 0 4 Short-rib_thoracic_dysplasia_13_with_or_without_polydactyly 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CENPF condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 28 28 1.0000 condition_record_support_limited 20 28 5 not_provided 60 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CASR mondo_mondo_0013032_medgen_c2752062_omim_612899 Epilepsy, idiopathic generalized, susceptibility to, 8 MONDO:MONDO:0013032,MedGen:C2752062,OMIM:612899 28 28 1.0000 condition_architecture_interpretable 20 0 28 Epilepsy,_idiopathic_generalized,_susceptibility_to,_8 313 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C17ORF107 condition_not_provided condition not provided MedGen:C3661900 28 28 1.0000 condition_record_support_limited 20 28 23 not_provided 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRIP1 mondo_mondo_0016248_medgen_c5679802 Familial ovarian cancer MONDO:MONDO:0016248,MedGen:C5679802 28 28 1.0000 condition_architecture_interpretable 20 0 24 Familial_ovarian_cancer 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BCOR condition_not_provided condition not provided MedGen:C3661900 28 28 1.0000 condition_record_support_limited 20 28 10 not_provided 114 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BBS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 28 28 1.0000 condition_record_support_limited 20 28 26 not_provided 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATRIP condition_not_provided condition not provided MedGen:C3661900 28 28 1.0000 condition_record_support_limited 20 28 23 not_provided 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMN mondo_mondo_0100157_medgen_c4016948_omim_618882 Imerslund-Grasbeck syndrome type 2 MONDO:MONDO:0100157,MedGen:C4016948,OMIM:618882 28 28 1.0000 condition_architecture_interpretable 20 0 12 Imerslund-Grasbeck_syndrome_type_2 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADSS1 condition_not_provided condition not provided MedGen:C3661900 28 28 1.0000 condition_record_support_limited 20 28 8 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACVRL1 medgen_c1832529 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia MedGen:C1832529 28 28 1.0000 condition_architecture_interpretable 20 0 18 Pulmonary_arterial_hypertension_related_to_hereditary_hemorrhagic_telangiectasia 546 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA2 mondo_mondo_0012730_medgen_c2673186_omim_611788 Aortic aneurysm, familial thoracic 6 MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788 28 28 1.0000 condition_architecture_interpretable 20 0 16 Aortic_aneurysm,_familial_thoracic_6 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACOX1 mondo_mondo_0030073_medgen_c5394554_omim_618960_orphanet_631248 Mitchell syndrome MONDO:MONDO:0030073,MedGen:C5394554,OMIM:618960,Orphanet:631248 28 28 1.0000 condition_architecture_interpretable 20 0 19 Mitchell_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACAD8 mondo_mondo_0012648_medgen_c1969809_omim_611283_orphanet_79159 Deficiency of isobutyryl-CoA dehydrogenase MONDO:MONDO:0012648,MedGen:C1969809,OMIM:611283,Orphanet:79159 28 28 1.0000 condition_architecture_interpretable 20 0 6 Deficiency_of_isobutyryl-CoA_dehydrogenase 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB4 abcb4_related_disorder ABCB4-related disorder . 28 28 1.0000 condition_architecture_interpretable 20 0 24 ABCB4-related_disorder 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA3 mondo_mondo_0012580_medgen_c3711368_omim_ps265120_orphanet_264675 Hereditary pulmonary alveolar proteinosis MONDO:MONDO:0012580,MedGen:C3711368,OMIM:PS265120,Orphanet:264675 28 28 1.0000 condition_architecture_interpretable 20 0 22 Hereditary_pulmonary_alveolar_proteinosis 135 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZNF292 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 27 27 1.0000 condition_architecture_interpretable 20 0 17 Neurodevelopmental_disorder 99 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture VPS33B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 27 27 1.0000 condition_record_support_limited 20 27 19 not_provided 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A9 mondo_mondo_0009383_medgen_c0270210_omim_237900_orphanet_2312 Lucey-Driscoll syndrome MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312 27 27 1.0000 condition_architecture_interpretable 20 0 25 Lucey-Driscoll_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A8 mondo_mondo_0009383_medgen_c0270210_omim_237900_orphanet_2312 Lucey-Driscoll syndrome MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312 27 27 1.0000 condition_architecture_interpretable 20 0 25 Lucey-Driscoll_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A7 mondo_mondo_0009383_medgen_c0270210_omim_237900_orphanet_2312 Lucey-Driscoll syndrome MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312 27 27 1.0000 condition_architecture_interpretable 20 0 25 Lucey-Driscoll_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A6 mondo_mondo_0009383_medgen_c0270210_omim_237900_orphanet_2312 Lucey-Driscoll syndrome MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312 27 27 1.0000 condition_architecture_interpretable 20 0 25 Lucey-Driscoll_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A5 mondo_mondo_0009383_medgen_c0270210_omim_237900_orphanet_2312 Lucey-Driscoll syndrome MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312 27 27 1.0000 condition_architecture_interpretable 20 0 25 Lucey-Driscoll_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A4 mondo_mondo_0009383_medgen_c0270210_omim_237900_orphanet_2312 Lucey-Driscoll syndrome MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312 27 27 1.0000 condition_architecture_interpretable 20 0 25 Lucey-Driscoll_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A3 mondo_mondo_0009383_medgen_c0270210_omim_237900_orphanet_2312 Lucey-Driscoll syndrome MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312 27 27 1.0000 condition_architecture_interpretable 20 0 25 Lucey-Driscoll_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A10 mondo_mondo_0009383_medgen_c0270210_omim_237900_orphanet_2312 Lucey-Driscoll syndrome MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312 27 27 1.0000 condition_architecture_interpretable 20 0 25 Lucey-Driscoll_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A1 mondo_mondo_0009383_medgen_c0270210_omim_237900_orphanet_2312 Lucey-Driscoll syndrome MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312 27 27 1.0000 condition_architecture_interpretable 20 0 25 Lucey-Driscoll_syndrome 80 compact_adjacent_exon_block_opportunity local_compact_architecture TSC1 mondo_mondo_0011705_medgen_c0751674_omim_606690_orphanet_538 Lymphangiomyomatosis MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690,Orphanet:538 27 27 1.0000 condition_architecture_interpretable 20 0 24 Lymphangiomyomatosis 739 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TPM2 mondo_mondo_0007157_medgen_c0220662_omim_108120_orphanet_1146 Arthrogryposis, distal, type 1A MONDO:MONDO:0007157,MedGen:C0220662,OMIM:108120,Orphanet:1146 27 27 1.0000 condition_architecture_interpretable 20 0 14 Arthrogryposis,_distal,_type_1A 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNI3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 27 27 1.0000 condition_record_support_limited 20 27 20 not_provided|not_specified 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERT mondo_mondo_0013878_medgen_c3553617_omim_614742_orphanet_88 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 MONDO:MONDO:0013878,MedGen:C3553617,OMIM:614742,Orphanet:88 27 27 1.0000 condition_architecture_interpretable 20 0 19 Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_1 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 27 27 1.0000 condition_record_support_limited 20 27 11 not_provided 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAP1 mondo_mondo_0011476_medgen_c1858266_omim_ps604571_orphanet_34592 MHC class I deficiency MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592 27 27 1.0000 condition_architecture_interpretable 20 0 2 MHC_class_I_deficiency 29 compact_adjacent_exon_block_opportunity local_compact_architecture TAFAZZIN condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 27 27 1.0000 condition_record_support_limited 20 27 12 not_provided|not_specified 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAF1 mondo_mondo_0010500_medgen_c4225418_omim_300966_orphanet_480907 Intellectual disability, X-linked, syndromic 33 MONDO:MONDO:0010500,MedGen:C4225418,OMIM:300966,Orphanet:480907 27 27 1.0000 condition_architecture_interpretable 20 0 15 Intellectual_disability,_X-linked,_syndromic_33 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUCLA2 mondo_mondo_0012791_medgen_c5980207_omim_612073_orphanet_1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria MONDO:MONDO:0012791,MedGen:C5980207,OMIM:612073,Orphanet:1933 27 27 1.0000 condition_architecture_interpretable 20 0 4 Mitochondrial_DNA_depletion_syndrome,_encephalomyopathic_form_with_methylmalonic_aciduria 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STX11 mondo_mondo_0011336_medgen_c1863728_omim_603552_orphanet_540 Familial hemophagocytic lymphohistiocytosis 4 MONDO:MONDO:0011336,MedGen:C1863728,OMIM:603552,Orphanet:540 27 27 1.0000 condition_architecture_interpretable 20 0 2 Familial_hemophagocytic_lymphohistiocytosis_4 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STRA6 mondo_mondo_0011010_medgen_c1832661_omim_601186_orphanet_2470 Matthew-Wood syndrome MONDO:MONDO:0011010,MedGen:C1832661,OMIM:601186,Orphanet:2470 27 27 1.0000 condition_architecture_interpretable 20 0 8 Matthew-Wood_syndrome 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAT5B mondo_mondo_0100211_medgen_c5435698_omim_245590_orphanet_220465 Growth hormone insensitivity with immune dysregulation 1, autosomal recessive MONDO:MONDO:0100211,MedGen:C5435698,OMIM:245590,Orphanet:220465 27 27 1.0000 condition_architecture_interpretable 20 0 4 Growth_hormone_insensitivity_with_immune_dysregulation_1,_autosomal_recessive 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC34A1 mondo_mondo_0014851_medgen_c4310473_omim_616963_orphanet_300547 Hypercalcemia, infantile, 2 MONDO:MONDO:0014851,MedGen:C4310473,OMIM:616963,Orphanet:300547 27 27 1.0000 condition_architecture_interpretable 20 0 20 Hypercalcemia,_infantile,_2 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 27 27 1.0000 condition_record_support_limited 20 27 6 not_provided 68 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SET mondo_mondo_0020847_medgen_c4748195_omim_618106 Intellectual disability, autosomal dominant 58 MONDO:MONDO:0020847,MedGen:C4748195,OMIM:618106 27 27 1.0000 condition_architecture_interpretable 20 0 4 Intellectual_disability,_autosomal_dominant_58 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN8A mondo_mondo_0014903_medgen_c4310728_omim_617080_orphanet_306 Seizures, benign familial infantile, 5 MONDO:MONDO:0014903,MedGen:C4310728,OMIM:617080,Orphanet:306 27 27 1.0000 condition_architecture_interpretable 20 0 25 Seizures,_benign_familial_infantile,_5 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A mondo_mondo_0011003_medgen_c1832680_omim_601154_orphanet_154 Dilated cardiomyopathy 1E MONDO:MONDO:0011003,MedGen:C1832680,OMIM:601154,Orphanet:154 27 27 1.0000 condition_architecture_interpretable 20 0 27 Dilated_cardiomyopathy_1E 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RTN4IP1 condition_not_provided condition not provided MedGen:C3661900 27 27 1.0000 condition_record_support_limited 20 27 4 not_provided 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RTEL1 condition_not_provided condition not provided .|MedGen:C3661900 27 27 1.0000 condition_record_support_limited 20 27 23 See_cases|not_provided 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RSPH3 mondo_mondo_0014657_medgen_c4225311_omim_616481_orphanet_244 Primary ciliary dyskinesia 32 MONDO:MONDO:0014657,MedGen:C4225311,OMIM:616481,Orphanet:244 27 27 1.0000 condition_architecture_interpretable 20 0 1 Primary_ciliary_dyskinesia_32 29 compact_adjacent_exon_block_opportunity local_compact_architecture RRM2B mondo_mondo_0012792_medgen_c2749861_omim_612075_orphanet_255235 Mitochondrial DNA depletion syndrome 8a MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075,Orphanet:255235 27 27 1.0000 condition_architecture_interpretable 20 0 16 Mitochondrial_DNA_depletion_syndrome_8a 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS19 mondo_mondo_0007110_medgen_c2676137_omim_105650_orphanet_124 Diamond-Blackfan anemia 1 MONDO:MONDO:0007110,MedGen:C2676137,OMIM:105650,Orphanet:124 27 27 1.0000 condition_architecture_interpretable 20 0 13 Diamond-Blackfan_anemia_1 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RMRP mondo_mondo_0054560_medgen_c4551965_omim_607095_orphanet_93347 Anauxetic dysplasia 1 MONDO:MONDO:0054560,MedGen:C4551965,OMIM:607095,Orphanet:93347 27 27 1.0000 condition_architecture_interpretable 20 0 26 Anauxetic_dysplasia_1 302 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation RIT1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 27 27 1.0000 condition_record_support_limited 20 27 27 not_provided|not_specified 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET mondo_mondo_0007958_medgen_c1833921_omim_155240_orphanet_653_orphanet_99361 Familial medullary thyroid carcinoma MONDO:MONDO:0007958,MedGen:C1833921,OMIM:155240,Orphanet:653,Orphanet:99361 27 27 1.0000 condition_architecture_interpretable 20 0 26 Familial_medullary_thyroid_carcinoma 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRX condition_not_provided condition not provided MedGen:C3661900 27 27 1.0000 condition_record_support_limited 20 27 18 not_provided 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRRT2 mondo_mondo_0011593_medgen_c1853995_omim_605751_orphanet_306 Seizures, benign familial infantile, 2 MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751,Orphanet:306 27 27 1.0000 condition_architecture_interpretable 20 0 15 Seizures,_benign_familial_infantile,_2 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRR12 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 27 27 1.0000 condition_record_support_limited 20 27 5 not_provided 74 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PROM1 mondo_mondo_0012796_medgen_c2677516_omim_612095_orphanet_791 Retinitis pigmentosa 41 MONDO:MONDO:0012796,MedGen:C2677516,OMIM:612095,Orphanet:791 27 27 1.0000 condition_architecture_interpretable 20 0 21 Retinitis_pigmentosa_41 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPARG mondo_mondo_0011448_medgen_c1720861_omim_604367_orphanet_79083 PPARG-related familial partial lipodystrophy MONDO:MONDO:0011448,MedGen:C1720861,OMIM:604367,Orphanet:79083 27 27 1.0000 condition_architecture_interpretable 20 0 6 PPARG-related_familial_partial_lipodystrophy 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POU1F1 mondo_mondo_0024464_medgen_c2751608_omim_613038 Pituitary hormone deficiency, combined, 1 MONDO:MONDO:0024464,MedGen:C2751608,OMIM:613038 27 27 1.0000 condition_architecture_interpretable 20 0 10 Pituitary_hormone_deficiency,_combined,_1 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR1C mondo_mondo_0009558_medgen_c1855433_omim_248390_orphanet_861 Treacher Collins syndrome 3 MONDO:MONDO:0009558,MedGen:C1855433,OMIM:248390,Orphanet:861 27 27 1.0000 condition_architecture_interpretable 20 0 25 Treacher_Collins_syndrome_3 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG2 condition_not_provided condition not provided MedGen:C3661900 27 27 1.0000 condition_record_support_limited 20 27 2 not_provided 33 compact_adjacent_exon_block_opportunity local_compact_architecture PMS2 pms2_related_disorder PMS2-related disorder . 27 27 1.0000 condition_architecture_interpretable 20 0 26 PMS2-related_disorder 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PKP2 mondo_mondo_0016342_medgen_c4274968_omim_ps107970_orphanet_217656 Familial isolated arrhythmogenic right ventricular dysplasia MONDO:MONDO:0016342,MedGen:C4274968,OMIM:PS107970,Orphanet:217656 27 27 1.0000 condition_architecture_interpretable 20 0 25 Familial_isolated_arrhythmogenic_right_ventricular_dysplasia 344 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PJVK condition_not_provided condition not provided MedGen:C3661900 27 27 1.0000 condition_record_support_limited 20 27 10 not_provided 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CD mondo_mondo_0014222_medgen_c3714976_omim_615513_orphanet_397596_orphanet_693661 Immunodeficiency 14 MONDO:MONDO:0014222,MedGen:C3714976,OMIM:615513,Orphanet:397596,Orphanet:693661 27 27 1.0000 condition_architecture_interpretable 20 0 4 Immunodeficiency_14 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGG condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 27 27 1.0000 condition_record_support_limited 20 27 18 not_provided 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHGDH mondo_mondo_0009736_medgen_c4551478_omim_256520_orphanet_2671_orphanet_583607 Neu-Laxova syndrome 1 MONDO:MONDO:0009736,MedGen:C4551478,OMIM:256520,Orphanet:2671,Orphanet:583607 27 27 1.0000 condition_architecture_interpretable 20 0 25 Neu-Laxova_syndrome_1 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF3 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 27 27 1.0000 condition_architecture_interpretable 20 0 21 Retinitis_pigmentosa 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEPD mondo_mondo_0008221_medgen_c0268532_omim_170100_orphanet_742 Prolidase deficiency MONDO:MONDO:0008221,MedGen:C0268532,OMIM:170100,Orphanet:742 27 27 1.0000 condition_architecture_interpretable 20 0 19 Prolidase_deficiency 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OCA2 mondo_mondo_0018910_medgen_c0078918_omim_ps203100_orphanet_55 Oculocutaneous albinism MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55 27 27 1.0000 condition_architecture_interpretable 20 0 25 Oculocutaneous_albinism 309 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP4 condition_not_provided condition not provided MedGen:C3661900 27 27 1.0000 condition_record_support_limited 20 27 20 not_provided 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NOTCH3 mondo_mondo_0007537_medgen_c1851710_omim_130720_orphanet_2789 Lateral meningocele syndrome MONDO:MONDO:0007537,MedGen:C1851710,OMIM:130720,Orphanet:2789 27 27 1.0000 condition_architecture_interpretable 20 0 20 Lateral_meningocele_syndrome 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NGLY1 condition_not_provided condition not provided MedGen:C3661900 27 27 1.0000 condition_record_support_limited 20 27 21 not_provided 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDRG1 mondo_mondo_0018995_medgen_c4082197_orphanet_64749 Charcot-Marie-Tooth disease type 4 MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749 27 27 1.0000 condition_architecture_interpretable 20 0 5 Charcot-Marie-Tooth_disease_type_4 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYH9 medgen_c1854520 MYH9-related disorder MedGen:C1854520 27 27 1.0000 condition_architecture_interpretable 20 0 17 MYH9-related_disorder 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MTHFD1 condition_not_provided condition not provided MedGen:C3661900 27 27 1.0000 condition_record_support_limited 20 27 8 not_provided 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPL condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 27 27 1.0000 condition_record_support_limited 20 27 23 not_provided|not_specified 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MILR1 condition_not_provided condition not provided MedGen:C3661900 27 27 1.0000 condition_record_support_limited 20 27 2 not_provided 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP2K1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 27 27 1.0000 condition_record_support_limited 20 27 18 not_provided|not_specified 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRBA condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 27 27 1.0000 condition_record_support_limited 20 27 12 not_provided|not_specified 186 large_gene_or_donor_burden_stress_case donor_burden_stress LIAS mondo_mondo_0013762_medgen_c3280887_omim_614462_orphanet_401859 Lipoic acid synthetase deficiency MONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462,Orphanet:401859 27 27 1.0000 condition_architecture_interpretable 20 0 5 Lipoic_acid_synthetase_deficiency 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture L1CAM mondo_mondo_0017140_medgen_c5779710_orphanet_275543 L1 syndrome MONDO:MONDO:0017140,MedGen:C5779710,Orphanet:275543 27 27 1.0000 condition_architecture_interpretable 20 0 13 L1_syndrome 203 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRT10 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 27 27 1.0000 condition_record_support_limited 20 27 16 See_cases|not_provided 41 compact_adjacent_exon_block_opportunity local_compact_architecture JUP mondo_mondo_0012684_medgen_c1969081_omim_611528 Arrhythmogenic right ventricular dysplasia 12 MONDO:MONDO:0012684,MedGen:C1969081,OMIM:611528 27 27 1.0000 condition_architecture_interpretable 20 0 26 Arrhythmogenic_right_ventricular_dysplasia_12 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT140 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 27 27 1.0000 condition_architecture_interpretable 20 0 15 Retinal_dystrophy 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF1B mondo_mondo_0007763_medgen_cn074294_omim_144700_orphanet_422526 Nonpapillary renal cell carcinoma MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526 27 27 1.0000 condition_architecture_interpretable 20 0 27 Nonpapillary_renal_cell_carcinoma 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HBA2 mondo_mondo_0054802_medgen_c4693823_omim_617981 Erythrocytosis, familial, 7 MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981 27 27 1.0000 condition_architecture_interpretable 20 0 27 Erythrocytosis,_familial,_7 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HADH mondo_mondo_0017715_medgen_c1291230_omim_231530_orphanet_309127_orphanet_71212 Deficiency of 3-hydroxyacyl-CoA dehydrogenase MONDO:MONDO:0017715,MedGen:C1291230,OMIM:231530,Orphanet:309127,Orphanet:71212 27 27 1.0000 condition_architecture_interpretable 20 0 7 Deficiency_of_3-hydroxyacyl-CoA_dehydrogenase 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPI mondo_mondo_0013275_medgen_c0272064_omim_613470_orphanet_712 Hemolytic anemia due to glucophosphate isomerase deficiency MONDO:MONDO:0013275,MedGen:C0272064,OMIM:613470,Orphanet:712 27 27 1.0000 condition_architecture_interpretable 20 0 7 Hemolytic_anemia_due_to_glucophosphate_isomerase_deficiency 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS human_phenotype_ontology_hp_0000852_mondo_mondo_0019992_medgen_c0033806_orphanet_79443_orphanet_97593 Pseudohypoparathyroidism Human_Phenotype_Ontology:HP:0000852,MONDO:MONDO:0019992,MedGen:C0033806,Orphanet:79443,Orphanet:97593 27 27 1.0000 condition_architecture_interpretable 20 0 19 Pseudohypoparathyroidism 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS gnas_related_disorder GNAS-related disorder MedGen:CN380105 27 27 1.0000 condition_architecture_interpretable 20 0 18 GNAS-related_disorder 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDAP1 mondo_mondo_0012014_medgen_c1842197_omim_608340_orphanet_217055 Charcot-Marie-Tooth disease recessive intermediate A MONDO:MONDO:0012014,MedGen:C1842197,OMIM:608340,Orphanet:217055 27 27 1.0000 condition_architecture_interpretable 20 0 25 Charcot-Marie-Tooth_disease_recessive_intermediate_A 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAMT condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 27 27 1.0000 condition_record_support_limited 20 27 25 See_cases|not_provided|not_specified 145 compact_adjacent_exon_block_opportunity local_compact_architecture G6PD mondo_mondo_0005775_medgen_c2939465 G6PD deficiency MONDO:MONDO:0005775,MedGen:C2939465 27 27 1.0000 condition_architecture_interpretable 20 0 25 G6PD_deficiency 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PC1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 27 27 1.0000 condition_record_support_limited 20 27 25 not_provided|not_specified 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FUS mondo_mondo_0013888_medgen_c3539195_omim_614782 Tremor, hereditary essential, 4 MONDO:MONDO:0013888,MedGen:C3539195,OMIM:614782 27 27 1.0000 condition_architecture_interpretable 20 0 26 Tremor,_hereditary_essential,_4 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FERMT1 condition_not_provided condition not provided MedGen:C3661900 27 27 1.0000 condition_record_support_limited 20 27 7 not_provided 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F8 mondo_mondo_0859082_medgen_c5676879_omim_301071 Thrombophilia, X-linked, due to factor 8 defect MONDO:MONDO:0859082,MedGen:C5676879,OMIM:301071 27 27 1.0000 condition_architecture_interpretable 20 0 23 Thrombophilia,_X-linked,_due_to_factor_8_defect 641 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EZH2 mondo_mondo_0010193_medgen_c0265210_omim_277590_orphanet_3447 Weaver syndrome MONDO:MONDO:0010193,MedGen:C0265210,OMIM:277590,Orphanet:3447 27 27 1.0000 condition_architecture_interpretable 20 0 7 Weaver_syndrome 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA4 mondo_mondo_0011031_medgen_c1832476_omim_601316_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 10 MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316,Orphanet:90635 27 27 1.0000 condition_architecture_interpretable 20 0 2 Autosomal_dominant_nonsyndromic_hearing_loss_10 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXOSC9 condition_not_provided condition not provided MedGen:C3661900 27 27 1.0000 condition_record_support_limited 20 27 4 not_provided 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC5 mondo_mondo_0014696_medgen_c1851443_omim_616570 Cerebrooculofacioskeletal syndrome 3 MONDO:MONDO:0014696,MedGen:C1851443,OMIM:616570 27 27 1.0000 condition_architecture_interpretable 20 0 19 Cerebrooculofacioskeletal_syndrome_3 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENG eng_related_disorder ENG-related disorder . 27 27 1.0000 condition_architecture_interpretable 20 0 24 ENG-related_disorder 607 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EDNRB condition_not_provided condition not provided MedGen:C3661900 27 27 1.0000 condition_record_support_limited 20 27 8 not_provided 41 compact_adjacent_exon_block_opportunity local_compact_architecture DYNC2I1 mondo_mondo_0014214_medgen_c3809691_omim_615503_orphanet_93271 Short-rib thoracic dysplasia 8 with or without polydactyly MONDO:MONDO:0014214,MedGen:C3809691,OMIM:615503,Orphanet:93271 27 27 1.0000 condition_architecture_interpretable 20 0 1 Short-rib_thoracic_dysplasia_8_with_or_without_polydactyly 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSP efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 27 27 1.0000 condition_architecture_interpretable 20 0 25 Primary_dilated_cardiomyopathy 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DPAGT1 mondo_mondo_0013883_medgen_c3553645_omim_614750_orphanet_353327_orphanet_590 Congenital myasthenic syndrome 13 MONDO:MONDO:0013883,MedGen:C3553645,OMIM:614750,Orphanet:353327,Orphanet:590 27 27 1.0000 condition_architecture_interpretable 20 0 22 Congenital_myasthenic_syndrome_13 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAH5 dnah5_related_disorder DNAH5-related disorder . 27 27 1.0000 condition_architecture_interpretable 20 0 21 DNAH5-related_disorder 1093 large_gene_or_donor_burden_stress_case donor_burden_stress DLL1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 27 27 1.0000 condition_record_support_limited 20 27 5 not_provided 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DGAT1 mondo_mondo_0014375_medgen_c4014516_omim_615863_orphanet_329242 Congenital diarrhea 7 with exudative enteropathy MONDO:MONDO:0014375,MedGen:C4014516,OMIM:615863,Orphanet:329242 27 27 1.0000 condition_architecture_interpretable 20 0 13 Congenital_diarrhea_7_with_exudative_enteropathy 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDHD1 mondo_mondo_0012256_medgen_c1836295_omim_609340_orphanet_101008 Hereditary spastic paraplegia 28 MONDO:MONDO:0012256,MedGen:C1836295,OMIM:609340,Orphanet:101008 27 27 1.0000 condition_architecture_interpretable 20 0 1 Hereditary_spastic_paraplegia_28 30 compact_adjacent_exon_block_opportunity local_compact_architecture CTC1 condition_not_provided condition not provided MedGen:C3661900 27 27 1.0000 condition_record_support_limited 20 27 20 not_provided 136 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSRP3 mondo_mondo_0011840_medgen_c1843808_omim_607482_orphanet_154 Dilated cardiomyopathy 1M MONDO:MONDO:0011840,MedGen:C1843808,OMIM:607482,Orphanet:154 27 27 1.0000 condition_architecture_interpretable 20 0 27 Dilated_cardiomyopathy_1M 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRX human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 27 27 1.0000 condition_architecture_interpretable 20 0 19 Retinal_dystrophy 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A3 mondo_mondo_0009681_medgen_c0410179_omim_254090_orphanet_75840 Ullrich congenital muscular dystrophy 1A MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840 27 27 1.0000 condition_architecture_interpretable 20 0 17 Ullrich_congenital_muscular_dystrophy_1A 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL6A1 mondo_mondo_0009681_medgen_c0410179_omim_254090_orphanet_75840 Ullrich congenital muscular dystrophy 1A MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840 27 27 1.0000 condition_architecture_interpretable 20 0 17 Ullrich_congenital_muscular_dystrophy_1A 194 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL18A1 mondo_mondo_0800166_medgen_c1849409_omim_ps267750_orphanet_1571 Knobloch syndrome MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571 27 27 1.0000 condition_architecture_interpretable 20 0 16 Knobloch_syndrome 214 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL17A1 mondo_mondo_0007381_medgen_c1852551_omim_122400_orphanet_293381 Epithelial recurrent erosion dystrophy MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400,Orphanet:293381 27 27 1.0000 condition_architecture_interpretable 20 0 24 Epithelial_recurrent_erosion_dystrophy 180 large_gene_or_donor_burden_stress_case donor_burden_stress CHD4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 27 27 1.0000 condition_record_support_limited 20 27 10 not_provided 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 27 27 1.0000 condition_architecture_interpretable 20 0 10 Inborn_genetic_diseases 368 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CABP4 condition_not_provided condition not provided MedGen:C3661900 27 27 1.0000 condition_record_support_limited 20 27 10 not_provided 30 compact_adjacent_exon_block_opportunity local_compact_architecture C8A condition_not_provided condition not provided MedGen:C3661900 27 27 1.0000 condition_record_support_limited 20 27 5 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 breast_and_or_ovarian_cancer Breast and/or ovarian cancer MedGen:CN221562 27 27 1.0000 condition_architecture_interpretable 20 0 27 Breast_and/or_ovarian_cancer 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BSND condition_not_provided condition not provided MedGen:C3661900 27 27 1.0000 condition_record_support_limited 20 27 16 not_provided 39 compact_adjacent_exon_block_opportunity local_compact_architecture BICRA mondo_mondo_0025699_medgen_c5444111_omim_619325 Coffin-Siris syndrome 12 MONDO:MONDO:0025699,MedGen:C5444111,OMIM:619325 27 27 1.0000 condition_architecture_interpretable 20 0 1 Coffin-Siris_syndrome_12 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS2 condition_not_provided condition not provided MedGen:C3661900 27 27 1.0000 condition_record_support_limited 20 27 23 not_provided 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AUH mondo_mondo_0009610_medgen_c0342727_omim_250950_orphanet_67046 3-methylglutaconic aciduria type 1 MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950,Orphanet:67046 27 27 1.0000 condition_architecture_interpretable 20 0 6 3-methylglutaconic_aciduria_type_1 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATF6 condition_not_provided condition not provided MedGen:C3661900 27 27 1.0000 condition_record_support_limited 20 27 6 not_provided 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AR mondo_mondo_0010720_medgen_c0268301_omim_312300_orphanet_90797 Partial androgen insensitivity syndrome MONDO:MONDO:0010720,MedGen:C0268301,OMIM:312300,Orphanet:90797 27 27 1.0000 condition_architecture_interpretable 20 0 18 Partial_androgen_insensitivity_syndrome 365 compact_adjacent_exon_block_opportunity local_compact_architecture AP4B1 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 27 27 1.0000 condition_architecture_interpretable 20 0 19 Spastic_paraplegia 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO5 mondo_mondo_0013222_medgen_c2750076_omim_613319_orphanet_399096 Miyoshi muscular dystrophy 3 MONDO:MONDO:0013222,MedGen:C2750076,OMIM:613319,Orphanet:399096 27 27 1.0000 condition_architecture_interpretable 20 0 25 Miyoshi_muscular_dystrophy_3 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALS2 mondo_mondo_0008780_medgen_c1859807_omim_205100_orphanet_300605 Amyotrophic lateral sclerosis type 2, juvenile MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100,Orphanet:300605 27 27 1.0000 condition_architecture_interpretable 20 0 16 Amyotrophic_lateral_sclerosis_type_2,_juvenile 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH5A1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 27 27 1.0000 condition_record_support_limited 20 27 24 See_cases|not_provided|not_specified 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AK2 mondo_mondo_0009973_medgen_c0272167_omim_267500_orphanet_33355 Reticular dysgenesis MONDO:MONDO:0009973,MedGen:C0272167,OMIM:267500,Orphanet:33355 27 27 1.0000 condition_architecture_interpretable 20 0 6 Reticular_dysgenesis 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAR condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 27 27 1.0000 condition_record_support_limited 20 27 8 not_provided 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTG1 mondo_mondo_0011480_medgen_c1858172_omim_604717_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 20 MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635 27 27 1.0000 condition_architecture_interpretable 20 0 21 Autosomal_dominant_nonsyndromic_hearing_loss_20 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZFYVE26 condition_not_provided condition not provided MedGen:C3661900 26 26 1.0000 condition_record_support_limited 20 26 21 not_provided 454 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture WDR73 mondo_mondo_0033005_medgen_c4551772_omim_251300_orphanet_2065_orphanet_83472 Galloway-Mowat syndrome 1 MONDO:MONDO:0033005,MedGen:C4551772,OMIM:251300,Orphanet:2065,Orphanet:83472 26 26 1.0000 condition_architecture_interpretable 20 0 11 Galloway-Mowat_syndrome_1 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VPS13C mondo_mondo_0014796_medgen_c4225186_omim_616840_orphanet_2828 Autosomal recessive early-onset Parkinson disease 23 MONDO:MONDO:0014796,MedGen:C4225186,OMIM:616840,Orphanet:2828 26 26 1.0000 condition_architecture_interpretable 20 0 9 Autosomal_recessive_early-onset_Parkinson_disease_23 88 large_gene_or_donor_burden_stress_case donor_burden_stress VARS2 condition_not_provided condition not provided MedGen:C3661900 26 26 1.0000 condition_record_support_limited 20 26 8 not_provided 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USP7 mondo_mondo_0014805_medgen_c5393908_orphanet_643549 Hao-Fountain syndrome MONDO:MONDO:0014805,MedGen:C5393908,Orphanet:643549 26 26 1.0000 condition_architecture_interpretable 20 0 5 Hao-Fountain_syndrome 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TWNK mondo_mondo_0012241_medgen_c1836439_omim_609286 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286 26 26 1.0000 condition_architecture_interpretable 20 0 15 Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_3 82 compact_adjacent_exon_block_opportunity local_compact_architecture TUBB2A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 26 26 1.0000 condition_record_support_limited 20 26 8 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSC1 human_phenotype_ontology_hp_0032051_mondo_mondo_0011818_medgen_c1846385_omim_607341_orphanet_268994 Isolated focal cortical dysplasia type II Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994 26 26 1.0000 condition_architecture_interpretable 20 0 23 Isolated_focal_cortical_dysplasia_type_II 739 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TRPC6 mondo_mondo_0011390_medgen_c1858915_omim_603965_orphanet_656 Focal segmental glomerulosclerosis 2 MONDO:MONDO:0011390,MedGen:C1858915,OMIM:603965,Orphanet:656 26 26 1.0000 condition_architecture_interpretable 20 0 7 Focal_segmental_glomerulosclerosis_2 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 26 26 1.0000 condition_record_support_limited 20 26 15 not_provided 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TOR1AIP1 mondo_mondo_0014900_medgen_c4511482_omim_617072_orphanet_424261 Autosomal recessive limb-girdle muscular dystrophy type 2Y MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261 26 26 1.0000 condition_architecture_interpretable 20 0 2 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Y 30 compact_adjacent_exon_block_opportunity local_compact_architecture TNNT1 mondo_mondo_0011539_medgen_c1854380_omim_605355_orphanet_98902 Nemaline myopathy 5 MONDO:MONDO:0011539,MedGen:C1854380,OMIM:605355,Orphanet:98902 26 26 1.0000 condition_architecture_interpretable 20 0 6 Nemaline_myopathy_5 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFB2 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 26 26 1.0000 condition_architecture_interpretable 20 0 14 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 112 compact_adjacent_exon_block_opportunity local_compact_architecture TECTA mondo_mondo_0011102_medgen_c1832187_omim_601543_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 12 MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543,Orphanet:90635 26 26 1.0000 condition_architecture_interpretable 20 0 16 Autosomal_dominant_nonsyndromic_hearing_loss_12 123 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCF3 condition_not_provided condition not provided MedGen:C3661900 26 26 1.0000 condition_record_support_limited 20 26 1 not_provided 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX4 mondo_mondo_0024533_medgen_c4552070_omim_178600_orphanet_422 Pulmonary hypertension, primary, 1 MONDO:MONDO:0024533,MedGen:C4552070,OMIM:178600,Orphanet:422 26 26 1.0000 condition_architecture_interpretable 20 0 13 Pulmonary_hypertension,_primary,_1 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 26 26 1.0000 condition_architecture_interpretable 20 0 15 Inborn_genetic_diseases 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STIM1 mondo_mondo_0013008_medgen_c2748557_omim_612783_orphanet_169090_orphanet_317430 Combined immunodeficiency due to STIM1 deficiency MONDO:MONDO:0013008,MedGen:C2748557,OMIM:612783,Orphanet:169090,Orphanet:317430 26 26 1.0000 condition_architecture_interpretable 20 0 23 Combined_immunodeficiency_due_to_STIM1_deficiency 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SRCAP mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 26 26 1.0000 condition_architecture_interpretable 20 0 8 Neurodevelopmental_disorder 111 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SNORD118 mondo_mondo_0013803_medgen_c3281200_omim_614561_orphanet_542310 Leukoencephalopathy with calcifications and cysts MONDO:MONDO:0013803,MedGen:C3281200,OMIM:614561,Orphanet:542310 26 26 1.0000 condition_architecture_interpretable 20 0 6 Leukoencephalopathy_with_calcifications_and_cysts 28 single_exon_hotspot_opportunity local_compact_architecture SMARCE1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 26 26 1.0000 condition_architecture_interpretable 20 0 9 Hereditary_cancer-predisposing_syndrome 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD9 mondo_mondo_0014134_medgen_c3888002_omim_615342_orphanet_422 Pulmonary hypertension, primary, 2 MONDO:MONDO:0014134,MedGen:C3888002,OMIM:615342,Orphanet:422 26 26 1.0000 condition_architecture_interpretable 20 0 1 Pulmonary_hypertension,_primary,_2 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC5A5 mondo_mondo_0020716_medgen_c1848805_omim_274400_orphanet_95716 Thyroid dyshormonogenesis 1 MONDO:MONDO:0020716,MedGen:C1848805,OMIM:274400,Orphanet:95716 26 26 1.0000 condition_architecture_interpretable 20 0 9 Thyroid_dyshormonogenesis_1 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A1 mondo_mondo_0011758_medgen_c0086795_omim_607014_orphanet_93473 Hurler syndrome MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014,Orphanet:93473 26 26 1.0000 condition_architecture_interpretable 20 0 24 Hurler_syndrome 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A46 mondo_mondo_0014671_medgen_c4225302_omim_616505 Neuropathy, hereditary motor and sensory, type 6B MONDO:MONDO:0014671,MedGen:C4225302,OMIM:616505 26 26 1.0000 condition_architecture_interpretable 20 0 7 Neuropathy,_hereditary_motor_and_sensory,_type_6B 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC19A2 mondo_mondo_0009575_medgen_c0342287_omim_249270_orphanet_49827 Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness MONDO:MONDO:0009575,MedGen:C0342287,OMIM:249270,Orphanet:49827 26 26 1.0000 condition_architecture_interpretable 20 0 15 Megaloblastic_anemia,_thiamine-responsive,_with_diabetes_mellitus_and_sensorineural_deafness 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SHOX mondo_mondo_0007481_medgen_c0265309_omim_127300_orphanet_240 Leri-Weill dyschondrosteosis MONDO:MONDO:0007481,MedGen:C0265309,OMIM:127300,Orphanet:240 26 26 1.0000 condition_architecture_interpretable 20 0 10 Leri-Weill_dyschondrosteosis 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEC24D condition_not_provided condition not provided MedGen:C3661900 26 26 1.0000 condition_record_support_limited 20 26 5 not_provided 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHD mondo_mondo_0017366_medgen_c4274332_omim_ps168000_orphanet_29072 Hereditary pheochromocytoma and paraganglioma MONDO:MONDO:0017366,MedGen:C4274332,OMIM:PS168000,Orphanet:29072 26 26 1.0000 condition_architecture_interpretable 20 0 24 Hereditary_pheochromocytoma_and_paraganglioma 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHAF2 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 26 26 1.0000 condition_architecture_interpretable 20 0 19 Hereditary_cancer-predisposing_syndrome 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN1B mondo_mondo_0013015_medgen_c2748541_omim_612838_orphanet_130_orphanet_871 Brugada syndrome 5 MONDO:MONDO:0013015,MedGen:C2748541,OMIM:612838,Orphanet:130,Orphanet:871 26 26 1.0000 condition_architecture_interpretable 20 0 6 Brugada_syndrome_5 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SBDS human_phenotype_ontology_hp_0001915_mondo_mondo_0015909_medgen_c0002874_omim_609135_orphanet_182040_orphanet_88 Aplastic anemia Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88 26 26 1.0000 condition_architecture_interpretable 20 0 17 Aplastic_anemia 48 compact_adjacent_exon_block_opportunity local_compact_architecture RTTN mondo_mondo_0018764_medgen_c3553831_omim_614833_orphanet_468631 Microcephalic primordial dwarfism due to RTTN deficiency MONDO:MONDO:0018764,MedGen:C3553831,OMIM:614833,Orphanet:468631 26 26 1.0000 condition_architecture_interpretable 20 0 11 Microcephalic_primordial_dwarfism_due_to_RTTN_deficiency 82 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RORA mondo_mondo_0060745_medgen_c4748041_omim_618060 Intellectual developmental disorder with or without epilepsy or cerebellar ataxia MONDO:MONDO:0060745,MedGen:C4748041,OMIM:618060 26 26 1.0000 condition_architecture_interpretable 20 0 2 Intellectual_developmental_disorder_with_or_without_epilepsy_or_cerebellar_ataxia 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RECQL4 mondo_mondo_0016369_medgen_c5203410_omim_268400_orphanet_221016 Rothmund-Thomson syndrome type 2 MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016 26 26 1.0000 condition_architecture_interpretable 20 0 25 Rothmund-Thomson_syndrome_type_2 385 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RARS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 26 26 1.0000 condition_record_support_limited 20 26 6 not_provided 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYROXD1 condition_not_provided condition not provided MedGen:C3661900 26 26 1.0000 condition_record_support_limited 20 26 5 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYCR1 condition_not_provided condition not provided MedGen:C3661900 26 26 1.0000 condition_record_support_limited 20 26 15 not_provided 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROM1 mondo_mondo_0012983_medgen_c2675210_omim_612657_orphanet_1872 Cone-rod dystrophy 12 MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,Orphanet:1872 26 26 1.0000 condition_architecture_interpretable 20 0 19 Cone-rod_dystrophy_12 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPT1 condition_not_provided condition not provided MedGen:C3661900 26 26 1.0000 condition_record_support_limited 20 26 25 not_provided 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP3CA condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 26 26 1.0000 condition_record_support_limited 20 26 8 See_cases|not_provided 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP3CA mondo_mondo_0020630_medgen_c4540199_omim_617711 Developmental and epileptic encephalopathy 91 MONDO:MONDO:0020630,MedGen:C4540199,OMIM:617711 26 26 1.0000 condition_architecture_interpretable 20 0 8 Developmental_and_epileptic_encephalopathy_91 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3A mondo_mondo_0009910_medgen_c0406586_omim_264090_orphanet_3455 Neonatal pseudo-hydrocephalic progeroid syndrome MONDO:MONDO:0009910,MedGen:C0406586,OMIM:264090,Orphanet:3455 26 26 1.0000 condition_architecture_interpretable 20 0 21 Neonatal_pseudo-hydrocephalic_progeroid_syndrome 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLH mondo_mondo_0010214_medgen_c1848410_omim_278750_orphanet_90342 Xeroderma pigmentosum variant type MONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750,Orphanet:90342 26 26 1.0000 condition_architecture_interpretable 20 0 15 Xeroderma_pigmentosum_variant_type 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHKA2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 26 26 1.0000 condition_record_support_limited 20 26 13 not_provided 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX3 condition_not_provided condition not provided MedGen:C3661900 26 26 1.0000 condition_record_support_limited 20 26 3 not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX2 mondo_mondo_0019609_medgen_c0043459_orphanet_912 Zellweger spectrum disorders MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912 26 26 1.0000 condition_architecture_interpretable 20 0 16 Zellweger_spectrum_disorders 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PALB2 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 26 26 1.0000 condition_architecture_interpretable 20 0 24 Gastric_cancer 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NR2E3 mondo_mondo_0012625_medgen_c1970163_omim_611131_orphanet_791 Retinitis pigmentosa 37 MONDO:MONDO:0012625,MedGen:C1970163,OMIM:611131,Orphanet:791 26 26 1.0000 condition_architecture_interpretable 20 0 24 Retinitis_pigmentosa_37 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEB neb_related_disorder NEB-related disorder . 26 26 1.0000 condition_architecture_interpretable 20 0 20 NEB-related_disorder 1871 large_gene_or_donor_burden_stress_case donor_burden_stress NDRG1 mondo_mondo_0011085_medgen_c1832334_omim_601455_orphanet_99950 Charcot-Marie-Tooth disease type 4D MONDO:MONDO:0011085,MedGen:C1832334,OMIM:601455,Orphanet:99950 26 26 1.0000 condition_architecture_interpretable 20 0 6 Charcot-Marie-Tooth_disease_type_4D 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMP13 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 26 26 1.0000 condition_record_support_limited 20 26 7 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITF condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 26 26 1.0000 condition_record_support_limited 20 26 18 not_provided|not_specified 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFSD8 mondo_mondo_0014515_medgen_c4015371_omim_616170 Macular dystrophy with central cone involvement MONDO:MONDO:0014515,MedGen:C4015371,OMIM:616170 26 26 1.0000 condition_architecture_interpretable 20 0 24 Macular_dystrophy_with_central_cone_involvement 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MARVELD2 mondo_mondo_0012420_medgen_c1857811_omim_610153_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 49 MONDO:MONDO:0012420,MedGen:C1857811,OMIM:610153,Orphanet:90636 26 26 1.0000 condition_architecture_interpretable 20 0 6 Autosomal_recessive_nonsyndromic_hearing_loss_49 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP2K1 mondo_mondo_0014113_medgen_c3809006_omim_615279_orphanet_1340 Cardiofaciocutaneous syndrome 3 MONDO:MONDO:0014113,MedGen:C3809006,OMIM:615279,Orphanet:1340 26 26 1.0000 condition_architecture_interpretable 20 0 15 Cardiofaciocutaneous_syndrome_3 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP1B mondo_mondo_0030061_medgen_c5394503_omim_618918 Periventricular nodular heterotopia 9 MONDO:MONDO:0030061,MedGen:C5394503,OMIM:618918 26 26 1.0000 condition_architecture_interpretable 20 0 13 Periventricular_nodular_heterotopia_9 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LZTR1 lztr1_related_disorder LZTR1-related disorder . 26 26 1.0000 condition_architecture_interpretable 20 0 22 LZTR1-related_disorder 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LGI1 mondo_mondo_0700090_medgen_cn030884_omim_600512_orphanet_101046 Epilepsy, familial temporal lobe, 1 MONDO:MONDO:0700090,MedGen:CN030884,OMIM:600512,Orphanet:101046 26 26 1.0000 condition_architecture_interpretable 20 0 8 Epilepsy,_familial_temporal_lobe,_1 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KMT5B condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 26 26 1.0000 condition_record_support_limited 20 26 8 See_cases|not_provided 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KMT2D mondo_mondo_0035651_medgen_c5680310_omim_620186_orphanet_589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome MONDO:MONDO:0035651,MedGen:C5680310,OMIM:620186,Orphanet:589856 26 26 1.0000 condition_architecture_interpretable 20 0 17 Choanal_atresia-athelia-hypothyroidism-delayed_puberty-short_stature_syndrome 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KIF1C mondo_mondo_0012651_medgen_c1969796_omim_611302_orphanet_397946 Spastic ataxia 2 MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302,Orphanet:397946 26 26 1.0000 condition_architecture_interpretable 20 0 6 Spastic_ataxia_2 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 mondo_mondo_0007534_medgen_c0004903_omim_130650_orphanet_116 Beckwith-Wiedemann syndrome MONDO:MONDO:0007534,MedGen:C0004903,OMIM:130650,Orphanet:116 26 26 1.0000 condition_architecture_interpretable 20 0 26 Beckwith-Wiedemann_syndrome 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IKBKB mondo_mondo_0014267_medgen_c4747743_omim_615592_orphanet_397787 Severe combined immunodeficiency due to IKK2 deficiency MONDO:MONDO:0014267,MedGen:C4747743,OMIM:615592,Orphanet:397787 26 26 1.0000 condition_architecture_interpretable 20 0 5 Severe_combined_immunodeficiency_due_to_IKK2_deficiency 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 26 26 1.0000 condition_record_support_limited 20 26 20 not_provided 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF1A mondo_mondo_0012919_medgen_c2675866_omim_612520 Type 1 diabetes mellitus 20 MONDO:MONDO:0012919,MedGen:C2675866,OMIM:612520 26 26 1.0000 condition_architecture_interpretable 20 0 25 Type_1_diabetes_mellitus_20 384 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP1BA mondo_mondo_0007930_medgen_c3277076_omim_153670_orphanet_274 Bernard-Soulier syndrome, type A2, autosomal dominant MONDO:MONDO:0007930,MedGen:C3277076,OMIM:153670,Orphanet:274 26 26 1.0000 condition_architecture_interpretable 20 0 22 Bernard-Soulier_syndrome,_type_A2,_autosomal_dominant 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXE3 mondo_mondo_0012456_medgen_c1853230_omim_610256_orphanet_83461 Congenital primary aphakia MONDO:MONDO:0012456,MedGen:C1853230,OMIM:610256,Orphanet:83461 26 26 1.0000 condition_architecture_interpretable 20 0 17 Congenital_primary_aphakia 33 single_exon_hotspot_opportunity local_compact_architecture ETFA glutaric_acidemia_type_2a Glutaric acidemia type 2A . 26 26 1.0000 condition_architecture_interpretable 20 0 16 Glutaric_acidemia_type_2A 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYRK1A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 26 26 1.0000 condition_architecture_interpretable 20 0 14 Inborn_genetic_diseases 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DUOXA2 mondo_mondo_0010137_medgen_c0342196_omim_274900_orphanet_95716 Thyroglobulin synthesis defect MONDO:MONDO:0010137,MedGen:C0342196,OMIM:274900,Orphanet:95716 26 26 1.0000 condition_architecture_interpretable 20 0 4 Thyroglobulin_synthesis_defect 27 compact_adjacent_exon_block_opportunity local_compact_architecture DSG1 condition_not_provided condition not provided MedGen:C3661900 26 26 1.0000 condition_record_support_limited 20 26 6 not_provided 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOK7 condition_not_provided condition not provided MedGen:C3661900 26 26 1.0000 condition_record_support_limited 20 26 25 not_provided 144 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNHD1 condition_not_provided condition not provided MedGen:C3661900 26 26 1.0000 condition_record_support_limited 20 26 3 not_provided 45 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CUBN condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 26 26 1.0000 condition_record_support_limited 20 26 21 See_cases|not_provided|not_specified 206 large_gene_or_donor_burden_stress_case donor_burden_stress CSF1R mondo_mondo_0030796_medgen_c3711381_omim_ps221820_orphanet_313808 Hereditary diffuse leukoencephalopathy with spheroids MONDO:MONDO:0030796,MedGen:C3711381,OMIM:PS221820,Orphanet:313808 26 26 1.0000 condition_architecture_interpretable 20 0 13 Hereditary_diffuse_leukoencephalopathy_with_spheroids 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRB2 condition_not_provided condition not provided MedGen:C3661900 26 26 1.0000 condition_record_support_limited 20 26 10 not_provided 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A2 mondo_mondo_0013773_medgen_c3280970_omim_614483_orphanet_2940_orphanet_99810 Porencephaly 2 MONDO:MONDO:0013773,MedGen:C3280970,OMIM:614483,Orphanet:2940,Orphanet:99810 26 26 1.0000 condition_architecture_interpretable 20 0 4 Porencephaly_2 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A1 mondo_mondo_0800461_medgen_cn376119 COL4A1-related disorder MONDO:MONDO:0800461,MedGen:CN376119 26 26 1.0000 condition_architecture_interpretable 20 0 12 COL4A1-related_disorder 396 large_gene_or_donor_burden_stress_case donor_burden_stress COG7 mondo_mondo_0012118_medgen_c2931010_omim_608779_orphanet_79333 COG7 congenital disorder of glycosylation MONDO:MONDO:0012118,MedGen:C2931010,OMIM:608779,Orphanet:79333 26 26 1.0000 condition_architecture_interpretable 20 0 3 COG7_congenital_disorder_of_glycosylation 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNNM4 condition_not_provided condition not provided MedGen:C3661900 26 26 1.0000 condition_record_support_limited 20 26 5 not_provided 49 compact_adjacent_exon_block_opportunity local_compact_architecture CNGA3 human_phenotype_ontology_hp_0011516_mondo_mondo_0018852_medgen_c0152200_orphanet_49382 Achromatopsia Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382 26 26 1.0000 condition_architecture_interpretable 20 0 20 Achromatopsia 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHAMP1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 26 26 1.0000 condition_record_support_limited 20 26 9 See_cases|not_provided 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFI mondo_mondo_0012594_medgen_c3463916_omim_610984_orphanet_200418 Factor I deficiency MONDO:MONDO:0012594,MedGen:C3463916,OMIM:610984,Orphanet:200418 26 26 1.0000 condition_architecture_interpretable 20 0 23 Factor_I_deficiency 124 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD46 condition_not_provided condition not provided MedGen:C3661900 26 26 1.0000 condition_record_support_limited 20 26 10 not_provided 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD40LG condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 26 26 1.0000 condition_record_support_limited 20 26 10 not_provided|not_specified 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 26 26 1.0000 condition_architecture_interpretable 20 0 23 Gastric_cancer 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRWD3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 26 26 1.0000 condition_record_support_limited 20 26 2 not_provided 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BRCA1 human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 26 26 1.0000 condition_architecture_interpretable 20 0 23 Breast_carcinoma 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRAT1 condition_not_provided condition not provided MedGen:C3661900 26 26 1.0000 condition_record_support_limited 20 26 17 not_provided 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BLOC1S6 mondo_mondo_0013606_medgen_c3280026_omim_614171_orphanet_280663_orphanet_79430 Hermansky-Pudlak syndrome 9 MONDO:MONDO:0013606,MedGen:C3280026,OMIM:614171,Orphanet:280663,Orphanet:79430 26 26 1.0000 condition_architecture_interpretable 20 0 2 Hermansky-Pudlak_syndrome_9 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATM inherited_breast_cancer_and_ovarian_cancer Inherited breast cancer and ovarian cancer . 26 26 1.0000 condition_architecture_interpretable 20 0 24 Inherited_breast_cancer_and_ovarian_cancer 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ARID2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 26 26 1.0000 condition_record_support_limited 20 26 4 not_provided 101 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANO6 condition_not_provided condition not provided MedGen:C3661900 26 26 1.0000 condition_record_support_limited 20 26 2 not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANKRD11 ankrd11_related_disorder ANKRD11-related disorder . 26 26 1.0000 condition_architecture_interpretable 20 0 13 ANKRD11-related_disorder 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALG9 mondo_mondo_0012117_medgen_c2931006_omim_608776_orphanet_79328 ALG9 congenital disorder of glycosylation MONDO:MONDO:0012117,MedGen:C2931006,OMIM:608776,Orphanet:79328 26 26 1.0000 condition_architecture_interpretable 20 0 16 ALG9_congenital_disorder_of_glycosylation 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALAS2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 26 26 1.0000 condition_record_support_limited 20 26 5 not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACE mondo_mondo_0012963_medgen_c2675470_omim_612624 Microvascular complications of diabetes, susceptibility to, 3 MONDO:MONDO:0012963,MedGen:C2675470,OMIM:612624 26 26 1.0000 condition_architecture_interpretable 20 0 26 Microvascular_complications_of_diabetes,_susceptibility_to,_3 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACE mondo_mondo_0100533_medgen_c3281105_omim_614519 Hemorrhage, intracerebral, susceptibility to MONDO:MONDO:0100533,MedGen:C3281105,OMIM:614519 26 26 1.0000 condition_architecture_interpretable 20 0 26 Hemorrhage,_intracerebral,_susceptibility_to 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCD1 abcd1_related_disorder ABCD1-related disorder . 26 26 1.0000 condition_architecture_interpretable 20 0 19 ABCD1-related_disorder 512 compact_adjacent_exon_block_opportunity local_compact_architecture ABCC8 mondo_mondo_0016391_medgen_c0158981_orphanet_224 Neonatal diabetes mellitus MONDO:MONDO:0016391,MedGen:C0158981,Orphanet:224 26 26 1.0000 condition_architecture_interpretable 20 0 20 Neonatal_diabetes_mellitus 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YWHAG condition_not_provided condition not provided MedGen:C3661900 25 25 1.0000 condition_record_support_limited 20 25 5 not_provided 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XDH mondo_mondo_0011346_medgen_c1863688_omim_603592_orphanet_3467_orphanet_93602 Xanthinuria type II MONDO:MONDO:0011346,MedGen:C1863688,OMIM:603592,Orphanet:3467,Orphanet:93602 25 25 1.0000 condition_architecture_interpretable 20 0 11 Xanthinuria_type_II 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VWF vwf_related_disorder VWF-related disorder . 25 25 1.0000 condition_architecture_interpretable 20 0 21 VWF-related_disorder 454 large_gene_or_donor_burden_stress_case donor_burden_stress VPS33B mondo_mondo_0031040_medgen_c5774311_omim_620010 Cholestasis, progressive familial intrahepatic, 12 MONDO:MONDO:0031040,MedGen:C5774311,OMIM:620010 25 25 1.0000 condition_architecture_interpretable 20 0 23 Cholestasis,_progressive_familial_intrahepatic,_12 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VCP mondo_mondo_0000507_medgen_c1833662_omim_ps167320_orphanet_52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,Orphanet:52430 25 25 1.0000 condition_architecture_interpretable 20 0 25 Inclusion_body_myopathy_with_Paget_disease_of_bone_and_frontotemporal_dementia 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UNC13D condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 25 25 1.0000 condition_record_support_limited 20 25 22 See_cases|not_provided 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB3 mondo_mondo_0013541_medgen_c3808397_omim_614039_orphanet_300570 Complex cortical dysplasia with other brain malformations 1 MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570 25 25 1.0000 condition_architecture_interpretable 20 0 16 Complex_cortical_dysplasia_with_other_brain_malformations_1 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPK1 mondo_mondo_0013761_medgen_c3280866_omim_614458_orphanet_293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency MONDO:MONDO:0013761,MedGen:C3280866,OMIM:614458,Orphanet:293955 25 25 1.0000 condition_architecture_interpretable 20 0 7 Childhood_encephalopathy_due_to_thiamine_pyrophosphokinase_deficiency 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM260 mondo_mondo_0044321_medgen_c4479549_omim_617478_orphanet_689822 Structural heart defects and renal anomalies syndrome MONDO:MONDO:0044321,MedGen:C4479549,OMIM:617478,Orphanet:689822 25 25 1.0000 condition_architecture_interpretable 20 0 4 Structural_heart_defects_and_renal_anomalies_syndrome 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM127 human_phenotype_ontology_hp_0002666_mondo_mondo_0008233_medgen_c0031511_omim_171300_orphanet_29072 Pheochromocytoma Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072 25 25 1.0000 condition_architecture_interpretable 20 0 18 Pheochromocytoma 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMC1 mondo_mondo_0011708_medgen_c1847626_omim_606705_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 36 MONDO:MONDO:0011708,MedGen:C1847626,OMIM:606705,Orphanet:90635 25 25 1.0000 condition_architecture_interpretable 20 0 23 Autosomal_dominant_nonsyndromic_hearing_loss_36 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 25 25 1.0000 condition_record_support_limited 20 25 12 not_provided 108 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR1 mondo_mondo_0012212_medgen_c4551955_omim_609192_orphanet_60030 Loeys-Dietz syndrome 1 MONDO:MONDO:0012212,MedGen:C4551955,OMIM:609192,Orphanet:60030 25 25 1.0000 condition_architecture_interpretable 20 0 10 Loeys-Dietz_syndrome_1 108 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 25 25 1.0000 condition_architecture_interpretable 20 0 9 Inborn_genetic_diseases 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STRC medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 25 25 1.0000 condition_architecture_interpretable 20 0 15 Rare_genetic_deafness 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture STIM1 mondo_mondo_0008497_medgen_c1861451_omim_185070_orphanet_3204 Stormorken syndrome MONDO:MONDO:0008497,MedGen:C1861451,OMIM:185070,Orphanet:3204 25 25 1.0000 condition_architecture_interpretable 20 0 23 Stormorken_syndrome 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SRD5A2 condition_not_provided condition not provided .|MedGen:C3661900 25 25 1.0000 condition_record_support_limited 20 25 23 See_cases|not_provided 89 compact_adjacent_exon_block_opportunity local_compact_architecture SPTBN4 mondo_mondo_0060496_medgen_c4479603_omim_617519 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MONDO:MONDO:0060496,MedGen:C4479603,OMIM:617519 25 25 1.0000 condition_architecture_interpretable 20 0 3 Neurodevelopmental_disorder_with_hypotonia,_neuropathy,_and_deafness 33 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTB sptb_related_disorder SPTB-related disorder . 25 25 1.0000 condition_architecture_interpretable 20 0 14 SPTB-related_disorder 557 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SOX11 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 25 25 1.0000 condition_record_support_limited 20 25 10 not_provided 84 single_exon_hotspot_opportunity local_compact_architecture SMN1 mondo_mondo_0009669_medgen_c5848259_omim_253300_orphanet_83330 Werdnig-Hoffmann disease MONDO:MONDO:0009669,MedGen:C5848259,OMIM:253300,Orphanet:83330 25 25 1.0000 condition_architecture_interpretable 20 0 13 Werdnig-Hoffmann_disease 79 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation SLC4A1 mondo_mondo_0008368_medgen_cn280572_omim_179800_orphanet_93608 Autosomal dominant distal renal tubular acidosis MONDO:MONDO:0008368,MedGen:CN280572,OMIM:179800,Orphanet:93608 25 25 1.0000 condition_architecture_interpretable 20 0 20 Autosomal_dominant_distal_renal_tubular_acidosis 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC38A8 mondo_mondo_0012216_medgen_c3807873_omim_609218_orphanet_397618 Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:MONDO:0012216,MedGen:C3807873,OMIM:609218,Orphanet:397618 25 25 1.0000 condition_architecture_interpretable 20 0 14 Foveal_hypoplasia_-_optic_nerve_decussation_defect_-_anterior_segment_dysgenesis_syndrome 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC27A4 mondo_mondo_0012089_medgen_c1837610_omim_608649_orphanet_88621 Ichthyosis prematurity syndrome MONDO:MONDO:0012089,MedGen:C1837610,OMIM:608649,Orphanet:88621 25 25 1.0000 condition_architecture_interpretable 20 0 10 Ichthyosis_prematurity_syndrome 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A4 slc26a4_related_disorder SLC26A4-related disorder . 25 25 1.0000 condition_architecture_interpretable 20 0 24 SLC26A4-related_disorder 631 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC16A2 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 25 25 1.0000 condition_architecture_interpretable 20 0 14 Spastic_paraplegia 112 compact_adjacent_exon_block_opportunity local_compact_architecture SCYL1 mondo_mondo_0014744_medgen_c5569084_omim_616719_orphanet_466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:MONDO:0014744,MedGen:C5569084,OMIM:616719,Orphanet:466794 25 25 1.0000 condition_architecture_interpretable 20 0 5 Acute_infantile_liver_failure-cerebellar_ataxia-peripheral_sensory_motor_neuropathy_syndrome 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCP2 condition_not_provided condition not provided MedGen:C3661900 25 25 1.0000 condition_record_support_limited 20 25 4 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN8A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 25 25 1.0000 condition_architecture_interpretable 20 0 11 Inborn_genetic_diseases 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A mondo_mondo_0024562_medgen_c1837845_omim_608567_orphanet_166282 Sick sinus syndrome 1 MONDO:MONDO:0024562,MedGen:C1837845,OMIM:608567,Orphanet:166282 25 25 1.0000 condition_architecture_interpretable 20 0 23 Sick_sinus_syndrome_1 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A mondo_mondo_0957247_medgen_c5830453_omim_620351 Congenital myopathy 22A, classic MONDO:MONDO:0957247,MedGen:C5830453,OMIM:620351 25 25 1.0000 condition_architecture_interpretable 20 0 22 Congenital_myopathy_22A,_classic 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCARB2 mondo_mondo_0009699_mesh_d020191_medgen_c0751779_omim_254900_orphanet_163696 Action myoclonus-renal failure syndrome MONDO:MONDO:0009699,MeSH:D020191,MedGen:C0751779,OMIM:254900,Orphanet:163696 25 25 1.0000 condition_architecture_interpretable 20 0 11 Action_myoclonus-renal_failure_syndrome 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS26 mondo_mondo_0013217_medgen_c2750080_omim_613309_orphanet_124 Diamond-Blackfan anemia 10 MONDO:MONDO:0013217,MedGen:C2750080,OMIM:613309,Orphanet:124 25 25 1.0000 condition_architecture_interpretable 20 0 9 Diamond-Blackfan_anemia_10 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RFXANK mondo_mondo_0008855_medgen_c5447452_omim_ps209920_orphanet_572 MHC class II deficiency MONDO:MONDO:0008855,MedGen:C5447452,OMIM:PS209920,Orphanet:572 25 25 1.0000 condition_architecture_interpretable 20 0 10 MHC_class_II_deficiency 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RANBP2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 25 25 1.0000 condition_record_support_limited 20 25 12 not_provided 96 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PYCR1 mondo_mondo_0013051_medgen_c2751987_omim_612940_orphanet_357064 Autosomal recessive cutis laxa type 2B MONDO:MONDO:0013051,MedGen:C2751987,OMIM:612940,Orphanet:357064 25 25 1.0000 condition_architecture_interpretable 20 0 15 Autosomal_recessive_cutis_laxa_type_2B 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRRT2 mondo_mondo_0100352_medgen_c4552000_omim_128200_orphanet_98809 Episodic kinesigenic dyskinesia 1 MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200,Orphanet:98809 25 25 1.0000 condition_architecture_interpretable 20 0 17 Episodic_kinesigenic_dyskinesia_1 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPH2 mondo_mondo_0011974_medgen_c1842475_omim_608133_orphanet_791 Retinitis pigmentosa 7 MONDO:MONDO:0011974,MedGen:C1842475,OMIM:608133,Orphanet:791 25 25 1.0000 condition_architecture_interpretable 20 0 22 Retinitis_pigmentosa_7 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRPH2 mondo_mondo_0018973_medgen_c1868569_orphanet_63454 Patterned dystrophy of the retinal pigment epithelium MONDO:MONDO:0018973,MedGen:C1868569,Orphanet:63454 25 25 1.0000 condition_architecture_interpretable 20 0 24 Patterned_dystrophy_of_the_retinal_pigment_epithelium 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRKAR1A mondo_mondo_0008771_medgen_c2931783_omim_204690_orphanet_1031_orphanet_171836 Amelogenesis imperfecta type 1G MONDO:MONDO:0008771,MedGen:C2931783,OMIM:204690,Orphanet:1031,Orphanet:171836 25 25 1.0000 condition_architecture_interpretable 20 0 5 Amelogenesis_imperfecta_type_1G 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PREPL human_phenotype_ontology_hp_0003131_mondo_mondo_0009067_medgen_c0010691_omim_220100_orphanet_214 Cystinuria Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214 25 25 1.0000 condition_architecture_interpretable 20 0 3 Cystinuria 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRDM5 mondo_mondo_0013605_medgen_c3280011_omim_614170_orphanet_90354 Brittle cornea syndrome 2 MONDO:MONDO:0013605,MedGen:C3280011,OMIM:614170,Orphanet:90354 25 25 1.0000 condition_architecture_interpretable 20 0 10 Brittle_cornea_syndrome_2 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMGNT2 mondo_mondo_0013904_medgen_c3553813_omim_614830_orphanet_899 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 MONDO:MONDO:0013904,MedGen:C3553813,OMIM:614830,Orphanet:899 25 25 1.0000 condition_architecture_interpretable 20 0 4 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_8 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 25 25 1.0000 condition_architecture_interpretable 20 0 12 Inborn_genetic_diseases 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDHX mondo_mondo_0009503_medgen_c1855553_omim_245349_orphanet_255182 Pyruvate dehydrogenase E3-binding protein deficiency MONDO:MONDO:0009503,MedGen:C1855553,OMIM:245349,Orphanet:255182 25 25 1.0000 condition_architecture_interpretable 20 0 8 Pyruvate_dehydrogenase_E3-binding_protein_deficiency 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAH human_phenotype_ontology_hp_0004923_medgen_c0751435 Hyperphenylalaninemia Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435 25 25 1.0000 condition_architecture_interpretable 20 0 25 Hyperphenylalaninemia 886 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NSD1 mondo_mondo_0007534_medgen_c0004903_omim_130650_orphanet_116 Beckwith-Wiedemann syndrome MONDO:MONDO:0007534,MedGen:C0004903,OMIM:130650,Orphanet:116 25 25 1.0000 condition_architecture_interpretable 20 0 20 Beckwith-Wiedemann_syndrome 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH2 mondo_mondo_0012439_medgen_c1857761_omim_610205_orphanet_261629_orphanet_52 Alagille syndrome due to a NOTCH2 point mutation MONDO:MONDO:0012439,MedGen:C1857761,OMIM:610205,Orphanet:261629,Orphanet:52 25 25 1.0000 condition_architecture_interpretable 20 0 10 Alagille_syndrome_due_to_a_NOTCH2_point_mutation 98 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NDUFS6 condition_not_provided condition not provided MedGen:C3661900 25 25 1.0000 condition_record_support_limited 20 25 14 not_provided 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO6 mondo_mondo_0011660_medgen_c2931767_omim_606346_orphanet_228012 Autosomal dominant nonsyndromic hearing loss 22 MONDO:MONDO:0011660,MedGen:C2931767,OMIM:606346,Orphanet:228012 25 25 1.0000 condition_architecture_interpretable 20 0 11 Autosomal_dominant_nonsyndromic_hearing_loss_22 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MRE11 condition_not_provided condition not provided MedGen:C3661900 25 25 1.0000 condition_record_support_limited 20 25 20 not_provided 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED13 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 25 25 1.0000 condition_record_support_limited 20 25 6 See_cases|not_provided|not_specified 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MECP2 mondo_mondo_0010342_medgen_c1845336_omim_300496 Autism, susceptibility to, X-linked 3 MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496 25 25 1.0000 condition_architecture_interpretable 20 0 23 Autism,_susceptibility_to,_X-linked_3 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LPL cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 25 25 1.0000 condition_architecture_interpretable 20 0 22 Cardiovascular_phenotype 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMF1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 25 25 1.0000 condition_record_support_limited 20 25 9 not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LDLRAP1 mondo_mondo_0005439_medgen_c0020445_omim_ps143890 Familial hypercholesterolemia MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 25 25 1.0000 condition_architecture_interpretable 20 0 19 Familial_hypercholesterolemia 68 compact_adjacent_exon_block_opportunity local_compact_architecture KCNQ4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 25 25 1.0000 condition_record_support_limited 20 25 14 not_provided|not_specified 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ10 mondo_mondo_0013005_medgen_c2748572_omim_612780_orphanet_199343 EAST syndrome MONDO:MONDO:0013005,MedGen:C2748572,OMIM:612780,Orphanet:199343 25 25 1.0000 condition_architecture_interpretable 20 0 6 EAST_syndrome 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KATNIP condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 25 25 1.0000 condition_record_support_limited 20 25 4 See_cases|not_provided|not_specified 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INSR condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 25 25 1.0000 condition_record_support_limited 20 25 7 not_provided|not_specified 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL17RA mondo_mondo_0013500_medgen_c4310803_omim_613953_orphanet_1334 Immunodeficiency 51 MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953,Orphanet:1334 25 25 1.0000 condition_architecture_interpretable 20 0 0 Immunodeficiency_51 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT140 ift140_related_disorder IFT140-related disorder . 25 25 1.0000 condition_architecture_interpretable 20 0 21 IFT140-related_disorder 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPDL human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 25 25 1.0000 condition_architecture_interpretable 20 0 13 Spastic_paraplegia 48 single_exon_hotspot_opportunity local_compact_architecture HBA2 human_phenotype_ontology_hp_0005511_mondo_mondo_0007705_medgen_c0700299_omim_140700_orphanet_178330 Heinz body anemia Human_Phenotype_Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330 25 25 1.0000 condition_architecture_interpretable 20 0 24 Heinz_body_anemia 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 human_phenotype_ontology_hp_0005511_mondo_mondo_0007705_medgen_c0700299_omim_140700_orphanet_178330 Heinz body anemia Human_Phenotype_Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330 25 25 1.0000 condition_architecture_interpretable 20 0 25 Heinz_body_anemia 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation GUCY2D mondo_mondo_0032811_medgen_c5231408_omim_618555 Night blindness, congenital stationary, type1i MONDO:MONDO:0032811,MedGen:C5231408,OMIM:618555 25 25 1.0000 condition_architecture_interpretable 20 0 23 Night_blindness,_congenital_stationary,_type1i 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2D mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 25 25 1.0000 condition_architecture_interpretable 20 0 18 Leber_congenital_amaurosis 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GMPPB condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 25 25 1.0000 condition_record_support_limited 20 25 16 not_provided 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLMN condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 25 25 1.0000 condition_record_support_limited 20 25 11 See_cases|not_provided|not_specified 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRB3 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 25 25 1.0000 condition_record_support_limited 20 25 11 See_cases|not_provided 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRB2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 25 25 1.0000 condition_architecture_interpretable 20 0 9 Intellectual_disability 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 mondo_mondo_0007793_medgen_c0410529_omim_146000_orphanet_429 Hypochondroplasia MONDO:MONDO:0007793,MedGen:C0410529,OMIM:146000,Orphanet:429 25 25 1.0000 condition_architecture_interpretable 20 0 23 Hypochondroplasia 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DMD human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 25 25 1.0000 condition_architecture_interpretable 20 0 25 Cardiomyopathy 2119 large_gene_or_donor_burden_stress_case donor_burden_stress CYLD mondo_mondo_0007565_medgen_c1851526_omim_132700_orphanet_211_orphanet_79493 Familial cylindromatosis MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700,Orphanet:211,Orphanet:79493 25 25 1.0000 condition_architecture_interpretable 20 0 8 Familial_cylindromatosis 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CXCR4 mondo_mondo_8000006_medgen_c5542296_omim_193670_orphanet_51636 WHIM syndrome 1 MONDO:MONDO:8000006,MedGen:C5542296,OMIM:193670,Orphanet:51636 25 25 1.0000 condition_architecture_interpretable 20 0 6 WHIM_syndrome_1 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPAP mondo_mondo_0012029_medgen_c1842109_omim_608393_orphanet_2512 Microcephaly 6, primary, autosomal recessive MONDO:MONDO:0012029,MedGen:C1842109,OMIM:608393,Orphanet:2512 25 25 1.0000 condition_architecture_interpretable 20 0 16 Microcephaly_6,_primary,_autosomal_recessive 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A2 mondo_mondo_0958235_medgen_c5935582_omim_620727 Ullrich congenital muscular dystrophy 1B MONDO:MONDO:0958235,MedGen:C5935582,OMIM:620727 25 25 1.0000 condition_architecture_interpretable 20 0 13 Ullrich_congenital_muscular_dystrophy_1B 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL5A1 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 25 25 1.0000 condition_architecture_interpretable 20 0 13 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A3 col4a3_related_disorder COL4A3-related disorder . 25 25 1.0000 condition_architecture_interpretable 20 0 21 COL4A3-related_disorder 855 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 mondo_mondo_0019354_medgen_c0265253_omim_ps108300_orphanet_828 Stickler syndrome MONDO:MONDO:0019354,MedGen:C0265253,OMIM:PS108300,Orphanet:828 25 25 1.0000 condition_architecture_interpretable 20 0 15 Stickler_syndrome 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 mondo_mondo_0012206_medgen_c1836683_omim_609162_orphanet_137678 Spondyloepiphyseal dysplasia with metatarsal shortening MONDO:MONDO:0012206,MedGen:C1836683,OMIM:609162,Orphanet:137678 25 25 1.0000 condition_architecture_interpretable 20 0 25 Spondyloepiphyseal_dysplasia_with_metatarsal_shortening 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 mondo_mondo_0011496_medgen_c0432214_omim_604864_orphanet_93279 Namaqualand hip dysplasia MONDO:MONDO:0011496,MedGen:C0432214,OMIM:604864,Orphanet:93279 25 25 1.0000 condition_architecture_interpretable 20 0 25 Namaqualand_hip_dysplasia 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 mondo_mondo_0007562_medgen_c1851536_omim_132450_orphanet_166011 Multiple epiphyseal dysplasia, Beighton type MONDO:MONDO:0007562,MedGen:C1851536,OMIM:132450,Orphanet:166011 25 25 1.0000 condition_architecture_interpretable 20 0 24 Multiple_epiphyseal_dysplasia,_Beighton_type 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 mondo_mondo_0054550_medgen_c4551562_omim_608805_orphanet_86820 Avascular necrosis of femoral head, primary, 1 MONDO:MONDO:0054550,MedGen:C4551562,OMIM:608805,Orphanet:86820 25 25 1.0000 condition_architecture_interpretable 20 0 23 Avascular_necrosis_of_femoral_head,_primary,_1 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A2 mondo_mondo_0012333_medgen_c1864746_omim_609706_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 53 MONDO:MONDO:0012333,MedGen:C1864746,OMIM:609706,Orphanet:90636 25 25 1.0000 condition_architecture_interpretable 20 0 14 Autosomal_recessive_nonsyndromic_hearing_loss_53 197 large_gene_or_donor_burden_stress_case donor_burden_stress CLN6 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 25 25 1.0000 condition_record_support_limited 20 25 18 not_provided 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CIC condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 25 25 1.0000 condition_record_support_limited 20 25 2 not_provided 75 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CD46 mondo_mondo_0013040_medgen_c2752040_omim_612922_orphanet_2134 Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly MONDO:MONDO:0013040,MedGen:C2752040,OMIM:612922,Orphanet:2134 25 25 1.0000 condition_architecture_interpretable 20 0 13 Atypical_hemolytic-uremic_syndrome_with_MCP/CD46_anomaly 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNA1S mondo_mondo_0859514_medgen_c5830283_omim_620246 Congenital myopathy 18 MONDO:MONDO:0859514,MedGen:C5830283,OMIM:620246 25 25 1.0000 condition_architecture_interpretable 20 0 22 Congenital_myopathy_18 126 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1C mondo_mondo_0859286_medgen_c5774213_omim_620029 Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures MONDO:MONDO:0859286,MedGen:C5774213,OMIM:620029 25 25 1.0000 condition_architecture_interpretable 20 0 4 Neurodevelopmental_disorder_with_hypotonia,_language_delay,_and_skeletal_defects_with_or_without_seizures 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture C2 condition_not_provided condition not provided MedGen:C3661900 25 25 1.0000 condition_record_support_limited 20 25 3 not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C19ORF12 mondo_mondo_0013674_medgen_c3280371_omim_614298_orphanet_289560 Neurodegeneration with brain iron accumulation 4 MONDO:MONDO:0013674,MedGen:C3280371,OMIM:614298,Orphanet:289560 25 25 1.0000 condition_architecture_interpretable 20 0 10 Neurodegeneration_with_brain_iron_accumulation_4 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA1 inherited_ovarian_cancer_without_breast_cancer Inherited ovarian cancer (without breast cancer) . 25 25 1.0000 condition_architecture_interpretable 20 0 25 Inherited_ovarian_cancer_(without_breast_cancer) 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APTX mondo_mondo_0008842_medgen_c1859598_omim_208920_orphanet_1168 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920,Orphanet:1168 25 25 1.0000 condition_architecture_interpretable 20 0 7 Ataxia,_early-onset,_with_oculomotor_apraxia_and_hypoalbuminemia 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APC apc_related_disorder APC-related disorder . 25 25 1.0000 condition_architecture_interpretable 20 0 22 APC-related_disorder 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control AMPD2 mondo_mondo_0014305_medgen_c3810295_omim_615686_orphanet_401805 Hereditary spastic paraplegia 63 MONDO:MONDO:0014305,MedGen:C3810295,OMIM:615686,Orphanet:401805 25 25 1.0000 condition_architecture_interpretable 20 0 22 Hereditary_spastic_paraplegia_63 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGPS mondo_mondo_0010823_medgen_c1838612_omim_600121_orphanet_177_orphanet_309803 Rhizomelic chondrodysplasia punctata type 3 MONDO:MONDO:0010823,MedGen:C1838612,OMIM:600121,Orphanet:177,Orphanet:309803 25 25 1.0000 condition_architecture_interpretable 20 0 2 Rhizomelic_chondrodysplasia_punctata_type_3 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGK mondo_mondo_0013859_medgen_c3553494_omim_614691_orphanet_91492 Cataract 38 MONDO:MONDO:0013859,MedGen:C3553494,OMIM:614691,Orphanet:91492 25 25 1.0000 condition_architecture_interpretable 20 0 25 Cataract_38 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFG2A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 25 25 1.0000 condition_record_support_limited 20 25 19 not_provided 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADSL condition_not_provided condition not provided MedGen:C3661900 25 25 1.0000 condition_record_support_limited 20 25 21 not_provided 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADA2 condition_not_provided condition not provided .|MedGen:C3661900 25 25 1.0000 condition_record_support_limited 20 25 20 See_cases|not_provided 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADA human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 25 25 1.0000 condition_architecture_interpretable 20 0 24 Severe_combined_immunodeficiency_disease 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCG8 mondo_mondo_0020747_medgen_c2749759_omim_210250 Sitosterolemia 1 MONDO:MONDO:0020747,MedGen:C2749759,OMIM:210250 25 25 1.0000 condition_architecture_interpretable 20 0 14 Sitosterolemia_1 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZMYND10 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 24 24 1.0000 condition_architecture_interpretable 20 0 10 Primary_ciliary_dyskinesia 35 compact_adjacent_exon_block_opportunity local_compact_architecture ZMIZ1 mondo_mondo_0032855_medgen_c5231448_omim_618659 Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies MONDO:MONDO:0032855,MedGen:C5231448,OMIM:618659 24 24 1.0000 condition_architecture_interpretable 20 0 11 Neurodevelopmental_disorder_with_dysmorphic_facies_and_distal_skeletal_anomalies 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZEB2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 24 24 1.0000 condition_architecture_interpretable 20 0 12 Inborn_genetic_diseases 389 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WWOX condition_not_provided condition not provided .|MedGen:C3661900 24 24 1.0000 condition_record_support_limited 20 24 20 See_cases|not_provided 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDFY3 mondo_mondo_0054593_medgen_c4479608_omim_617520 Microcephaly 18, primary, autosomal dominant MONDO:MONDO:0054593,MedGen:C4479608,OMIM:617520 24 24 1.0000 condition_architecture_interpretable 20 0 5 Microcephaly_18,_primary,_autosomal_dominant 84 large_gene_or_donor_burden_stress_case donor_burden_stress VWF mondo_mondo_0015628_medgen_c1282968_orphanet_166084 Von Willebrand disease type 2A MONDO:MONDO:0015628,MedGen:C1282968,Orphanet:166084 24 24 1.0000 condition_architecture_interpretable 20 0 23 Von_Willebrand_disease_type_2A 454 large_gene_or_donor_burden_stress_case donor_burden_stress VARS2 mondo_mondo_0014397_medgen_c4014660_omim_615917_orphanet_420728 Combined oxidative phosphorylation defect type 20 MONDO:MONDO:0014397,MedGen:C4014660,OMIM:615917,Orphanet:420728 24 24 1.0000 condition_architecture_interpretable 20 0 6 Combined_oxidative_phosphorylation_defect_type_20 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 condition_not_provided condition not provided MedGen:C3661900 24 24 1.0000 condition_record_support_limited 20 24 20 not_provided 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Skeletal dysplasia Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 24 24 1.0000 condition_architecture_interpretable 20 0 23 Skeletal_dysplasia 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRDN mondo_mondo_0014191_medgen_c3809536_omim_615441_orphanet_3286 Catecholaminergic polymorphic ventricular tachycardia 5 MONDO:MONDO:0014191,MedGen:C3809536,OMIM:615441,Orphanet:3286 24 24 1.0000 condition_architecture_interpretable 20 0 15 Catecholaminergic_polymorphic_ventricular_tachycardia_5 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM3 mondo_mondo_0012239_medgen_c5829889_omim_609284_orphanet_171433_orphanet_171439_orphanet_171881 Congenital myopathy 4B, autosomal recessive MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284,Orphanet:171433,Orphanet:171439,Orphanet:171881 24 24 1.0000 condition_architecture_interpretable 20 0 20 Congenital_myopathy_4B,_autosomal_recessive 35 compact_adjacent_exon_block_opportunity local_compact_architecture TP53 human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Hepatocellular carcinoma Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 24 24 1.0000 condition_architecture_interpretable 20 0 24 Hepatocellular_carcinoma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 mondo_mondo_0024498_medgen_c2750850_omim_137800 Glioma susceptibility 1 MONDO:MONDO:0024498,MedGen:C2750850,OMIM:137800 24 24 1.0000 condition_architecture_interpretable 20 0 24 Glioma_susceptibility_1 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 24 24 1.0000 condition_architecture_interpretable 20 0 23 Colorectal_cancer 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 human_phenotype_ontology_hp_0200022_mondo_mondo_0009837_medgen_c0205770_omim_260500_orphanet_251899_orphanet_2807 Choroid plexus papilloma Human_Phenotype_Ontology:HP:0200022,MONDO:MONDO:0009837,MedGen:C0205770,OMIM:260500,Orphanet:251899,Orphanet:2807 24 24 1.0000 condition_architecture_interpretable 20 0 24 Choroid_plexus_papilloma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TMEM127 condition_not_provided condition not provided MedGen:C3661900 24 24 1.0000 condition_record_support_limited 20 24 19 not_provided 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM107 mondo_mondo_0013803_medgen_c3281200_omim_614561_orphanet_542310 Leukoencephalopathy with calcifications and cysts MONDO:MONDO:0013803,MedGen:C3281200,OMIM:614561,Orphanet:542310 24 24 1.0000 condition_architecture_interpretable 20 0 7 Leukoencephalopathy_with_calcifications_and_cysts 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFB3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 24 24 1.0000 condition_record_support_limited 20 24 12 not_provided 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TEK condition_not_provided condition not provided MedGen:C3661900 24 24 1.0000 condition_record_support_limited 20 24 11 not_provided 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCTN1 mondo_mondo_0013608_medgen_c3280031_omim_614173_orphanet_475 Joubert syndrome 13 MONDO:MONDO:0013608,MedGen:C3280031,OMIM:614173,Orphanet:475 24 24 1.0000 condition_architecture_interpretable 20 0 13 Joubert_syndrome_13 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAP2 mondo_mondo_0011476_medgen_c1858266_omim_ps604571_orphanet_34592 MHC class I deficiency MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592 24 24 1.0000 condition_architecture_interpretable 20 0 2 MHC_class_I_deficiency 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STIM1 mondo_mondo_0008051_medgen_c0410207_omim_ps160565_orphanet_2593 Myopathy with tubular aggregates MONDO:MONDO:0008051,MedGen:C0410207,OMIM:PS160565,Orphanet:2593 24 24 1.0000 condition_architecture_interpretable 20 0 24 Myopathy_with_tubular_aggregates 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SORL1 condition_not_provided condition not provided MedGen:C3661900 24 24 1.0000 condition_record_support_limited 20 24 0 not_provided 26 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SMPD4 mondo_mondo_0032838_medgen_c5231431_omim_618622_orphanet_664923 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MONDO:MONDO:0032838,MedGen:C5231431,OMIM:618622,Orphanet:664923 24 24 1.0000 condition_architecture_interpretable 20 0 1 Neurodevelopmental_disorder_with_microcephaly,_arthrogryposis,_and_structural_brain_anomalies 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMC3 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 24 24 1.0000 condition_record_support_limited 20 24 5 See_cases|not_provided 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCB1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 24 24 1.0000 condition_architecture_interpretable 20 0 14 Hereditary_cancer-predisposing_syndrome 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC52A3 mondo_mondo_0024537_medgen_c0796274_omim_211530_orphanet_572543_orphanet_97229 Brown-Vialetto-van Laere syndrome 1 MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530,Orphanet:572543,Orphanet:97229 24 24 1.0000 condition_architecture_interpretable 20 0 7 Brown-Vialetto-van_Laere_syndrome_1 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC45A2 medgen_c2673584_omim_227240 SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR MedGen:C2673584,OMIM:227240 24 24 1.0000 condition_architecture_interpretable 20 0 23 SKIN/HAIR/EYE_PIGMENTATION_5,_BLACK/NONBLACK_HAIR 112 compact_adjacent_exon_block_opportunity local_compact_architecture SKIC2 mondo_mondo_0013818_medgen_c3281289_omim_614602_orphanet_84064 Trichohepatoenteric syndrome 2 MONDO:MONDO:0013818,MedGen:C3281289,OMIM:614602,Orphanet:84064 24 24 1.0000 condition_architecture_interpretable 20 0 16 Trichohepatoenteric_syndrome_2 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SIGMAR1 mondo_mondo_0013715_medgen_c3280587_omim_614373_orphanet_300605 Amyotrophic lateral sclerosis type 16 MONDO:MONDO:0013715,MedGen:C3280587,OMIM:614373,Orphanet:300605 24 24 1.0000 condition_architecture_interpretable 20 0 19 Amyotrophic_lateral_sclerosis_type_16 27 compact_adjacent_exon_block_opportunity local_compact_architecture SGCA mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 Autosomal recessive limb-girdle muscular dystrophy MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 24 24 1.0000 condition_architecture_interpretable 20 0 23 Autosomal_recessive_limb-girdle_muscular_dystrophy 186 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEC63 human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Autosomal dominant polycystic liver disease Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 24 24 1.0000 condition_architecture_interpretable 20 0 6 Autosomal_dominant_polycystic_liver_disease 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN5A mondo_mondo_0007240_medgen_c1879286_omim_113900_orphanet_871 Progressive familial heart block, type 1A MONDO:MONDO:0007240,MedGen:C1879286,OMIM:113900,Orphanet:871 24 24 1.0000 condition_architecture_interpretable 20 0 24 Progressive_familial_heart_block,_type_1A 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A mondo_mondo_0013530_medgen_c3151464_omim_614022 Atrial fibrillation, familial, 10 MONDO:MONDO:0013530,MedGen:C3151464,OMIM:614022 24 24 1.0000 condition_architecture_interpretable 20 0 24 Atrial_fibrillation,_familial,_10 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A mondo_mondo_0957265_medgen_c5830501_omim_620369 Congenital myopathy 22B, severe fetal MONDO:MONDO:0957265,MedGen:C5830501,OMIM:620369 24 24 1.0000 condition_architecture_interpretable 20 0 20 Congenital_myopathy_22B,_severe_fetal 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RUNX1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 24 24 1.0000 condition_architecture_interpretable 20 0 17 Inborn_genetic_diseases 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RRM2B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 24 24 1.0000 condition_record_support_limited 20 24 11 not_provided|not_specified 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ROR2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 24 24 1.0000 condition_record_support_limited 20 24 8 not_provided 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET ret_related_disorder RET-related disorder . 24 24 1.0000 condition_architecture_interpretable 20 0 16 RET-related_disorder 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RECQL4 mondo_mondo_0009955_medgen_c1849453_omim_266280_orphanet_3021 Rapadilino syndrome MONDO:MONDO:0009955,MedGen:C1849453,OMIM:266280,Orphanet:3021 24 24 1.0000 condition_architecture_interpretable 20 0 19 Rapadilino_syndrome 385 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAG2 condition_not_provided condition not provided MedGen:C3661900 24 24 1.0000 condition_record_support_limited 20 24 18 not_provided 147 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAF1 mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 Noonan syndrome MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 24 24 1.0000 condition_architecture_interpretable 20 0 22 Noonan_syndrome 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYCR2 mondo_mondo_0014632_medgen_c4225332_omim_616420_orphanet_481152 Hypomyelinating leukodystrophy 10 MONDO:MONDO:0014632,MedGen:C4225332,OMIM:616420,Orphanet:481152 24 24 1.0000 condition_architecture_interpretable 20 0 8 Hypomyelinating_leukodystrophy_10 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPRQ condition_not_provided condition not provided MedGen:C3661900 24 24 1.0000 condition_record_support_limited 20 24 6 not_provided 60 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PRKCSH mondo_mondo_0008265_medgen_c0887850_omim_174050_orphanet_2924 Polycystic liver disease 1 MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924 24 24 1.0000 condition_architecture_interpretable 20 0 7 Polycystic_liver_disease_1 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PQBP1 mondo_mondo_0010653_medgen_c0796135_omim_309500_orphanet_3242 Renpenning syndrome MONDO:MONDO:0010653,MedGen:C0796135,OMIM:309500,Orphanet:3242 24 24 1.0000 condition_architecture_interpretable 20 0 7 Renpenning_syndrome 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP1R12A mondo_mondo_0032934_medgen_c5394158_omim_618820 Genitourinary and/or brain malformation syndrome MONDO:MONDO:0032934,MedGen:C5394158,OMIM:618820 24 24 1.0000 condition_architecture_interpretable 20 0 2 Genitourinary_and/or_brain_malformation_syndrome 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POT1 condition_not_provided condition not provided MedGen:C3661900 24 24 1.0000 condition_record_support_limited 20 24 20 not_provided 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMK mondo_mondo_0014101_medgen_c3808964_omim_615249_orphanet_899 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:MONDO:0014101,MedGen:C3808964,OMIM:615249,Orphanet:899 24 24 1.0000 condition_architecture_interpretable 20 0 22 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_12 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA6 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 24 24 1.0000 condition_record_support_limited 20 24 14 not_provided 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD1L1 mondo_mondo_0014967_medgen_c4310668_omim_617205 Heterotaxy, visceral, 8, autosomal MONDO:MONDO:0014967,MedGen:C4310668,OMIM:617205 24 24 1.0000 condition_architecture_interpretable 20 0 9 Heterotaxy,_visceral,_8,_autosomal 60 large_gene_or_donor_burden_stress_case donor_burden_stress PJVK mondo_mondo_0012445_medgen_c1857744_omim_610220_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 59 MONDO:MONDO:0012445,MedGen:C1857744,OMIM:610220,Orphanet:90636 24 24 1.0000 condition_architecture_interpretable 20 0 10 Autosomal_recessive_nonsyndromic_hearing_loss_59 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3C2A condition_not_provided condition not provided MedGen:C3661900 24 24 1.0000 condition_record_support_limited 20 24 1 not_provided 30 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PDE6C mondo_mondo_0013129_medgen_c2751308_omim_613093_orphanet_49382 Cone dystrophy 4 MONDO:MONDO:0013129,MedGen:C2751308,OMIM:613093,Orphanet:49382 24 24 1.0000 condition_architecture_interpretable 20 0 14 Cone_dystrophy_4 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6A human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 24 24 1.0000 condition_architecture_interpretable 20 0 18 Retinal_dystrophy 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCCA condition_not_provided condition not provided MedGen:C3661900 24 24 1.0000 condition_record_support_limited 20 24 19 not_provided 298 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTX2 mondo_mondo_0012413_medgen_c1864690_omim_610125_orphanet_178364 Syndromic microphthalmia type 5 MONDO:MONDO:0012413,MedGen:C1864690,OMIM:610125,Orphanet:178364 24 24 1.0000 condition_architecture_interpretable 20 0 6 Syndromic_microphthalmia_type_5 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTOF mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 24 24 1.0000 condition_architecture_interpretable 20 0 20 Nonsyndromic_genetic_hearing_loss 355 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NRL condition_not_provided condition not provided MedGen:C3661900 24 24 1.0000 condition_record_support_limited 20 24 9 not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR0B1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 24 24 1.0000 condition_record_support_limited 20 24 8 not_provided 124 compact_adjacent_exon_block_opportunity local_compact_architecture NOTCH2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 24 24 1.0000 condition_record_support_limited 20 24 8 See_cases|not_provided 98 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NFIA mondo_mondo_0100478_medgen_c4478940_omim_613735 Brain malformations with or without urinary tract defects MONDO:MONDO:0100478,MedGen:C4478940,OMIM:613735 24 24 1.0000 condition_architecture_interpretable 20 0 6 Brain_malformations_with_or_without_urinary_tract_defects 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEXN mondo_mondo_0013147_medgen_c2751084_omim_613122_orphanet_154 Dilated cardiomyopathy 1CC MONDO:MONDO:0013147,MedGen:C2751084,OMIM:613122,Orphanet:154 24 24 1.0000 condition_architecture_interpretable 20 0 22 Dilated_cardiomyopathy_1CC 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCF4 mondo_mondo_0013507_medgen_c3151409_omim_613960_orphanet_379 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 MONDO:MONDO:0013507,MedGen:C3151409,OMIM:613960,Orphanet:379 24 24 1.0000 condition_architecture_interpretable 20 0 5 Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_3 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NBEA condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 24 24 1.0000 condition_record_support_limited 20 24 4 not_provided|not_specified 81 large_gene_or_donor_burden_stress_case donor_burden_stress MYO7A mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 24 24 1.0000 condition_architecture_interpretable 20 0 24 Hearing_loss,_autosomal_recessive 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MTOR mondo_mondo_0014716_medgen_c4225259_omim_616638_orphanet_457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome MONDO:MONDO:0014716,MedGen:C4225259,OMIM:616638,Orphanet:457485 24 24 1.0000 condition_architecture_interpretable 20 0 12 Macrocephaly-intellectual_disability-neurodevelopmental_disorder-small_thorax_syndrome 52 large_gene_or_donor_burden_stress_case donor_burden_stress MSL3 mondo_mondo_0026730_medgen_c5231394_omim_301032 Basilicata-Akhtar syndrome MONDO:MONDO:0026730,MedGen:C5231394,OMIM:301032 24 24 1.0000 condition_architecture_interpretable 20 0 9 Basilicata-Akhtar_syndrome 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPV17 mondo_mondo_0100512_medgen_c3711385_orphanet_254871 Mitochondrial DNA depletion syndrome, hepatocerebral form MONDO:MONDO:0100512,MedGen:C3711385,Orphanet:254871 24 24 1.0000 condition_architecture_interpretable 20 0 21 Mitochondrial_DNA_depletion_syndrome,_hepatocerebral_form 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECR condition_not_provided condition not provided MedGen:C3661900 24 24 1.0000 condition_record_support_limited 20 24 4 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MALT1 mondo_mondo_0014197_medgen_c3809583_omim_615468_orphanet_397964 Combined immunodeficiency due to MALT1 deficiency MONDO:MONDO:0014197,MedGen:C3809583,OMIM:615468,Orphanet:397964 24 24 1.0000 condition_architecture_interpretable 20 0 2 Combined_immunodeficiency_due_to_MALT1_deficiency 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAK mondo_mondo_0013611_medgen_c3280042_omim_614181_orphanet_791 Retinitis pigmentosa 62 MONDO:MONDO:0013611,MedGen:C3280042,OMIM:614181,Orphanet:791 24 24 1.0000 condition_architecture_interpretable 20 0 19 Retinitis_pigmentosa_62 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRAT condition_not_provided condition not provided MedGen:C3661900 24 24 1.0000 condition_record_support_limited 20 24 12 not_provided 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LHX3 condition_not_provided condition not provided MedGen:C3661900 24 24 1.0000 condition_record_support_limited 20 24 7 not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0012371_medgen_c1860991_omim_609942_orphanet_648 Noonan syndrome 3 MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648 24 24 1.0000 condition_architecture_interpretable 20 0 15 Noonan_syndrome_3 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF7 mondo_mondo_0011778_medgen_c1846722_omim_607131_orphanet_166024 Multiple epiphyseal dysplasia, Al-Gazali type MONDO:MONDO:0011778,MedGen:C1846722,OMIM:607131,Orphanet:166024 24 24 1.0000 condition_architecture_interpretable 20 0 23 Multiple_epiphyseal_dysplasia,_Al-Gazali_type 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF7 mondo_mondo_0013585_medgen_c3279899_omim_614120_orphanet_2189 Hydrolethalus syndrome 2 MONDO:MONDO:0013585,MedGen:C3279899,OMIM:614120,Orphanet:2189 24 24 1.0000 condition_architecture_interpretable 20 0 24 Hydrolethalus_syndrome_2 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIDINS220 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 24 24 1.0000 condition_record_support_limited 20 24 5 not_provided 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KCNQ1 kcnq1_related_disorder KCNQ1-related disorder MedGen:CN239322 24 24 1.0000 condition_architecture_interpretable 20 0 24 KCNQ1-related_disorder 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNMA1 mondo_mondo_0012276_medgen_c5574945_omim_609446_orphanet_79137 Generalized epilepsy-paroxysmal dyskinesia syndrome MONDO:MONDO:0012276,MedGen:C5574945,OMIM:609446,Orphanet:79137 24 24 1.0000 condition_architecture_interpretable 20 0 4 Generalized_epilepsy-paroxysmal_dyskinesia_syndrome 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 24 24 1.0000 condition_record_support_limited 20 24 22 not_provided|not_specified 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITPA mondo_mondo_0013461_medgen_c0342800_omim_613850 Inosine triphosphatase deficiency MONDO:MONDO:0013461,MedGen:C0342800,OMIM:613850 24 24 1.0000 condition_architecture_interpretable 20 0 10 Inosine_triphosphatase_deficiency 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGB3 mondo_mondo_0030996_medgen_c5543280_omim_619271 Bleeding disorder, platelet-type, 24 MONDO:MONDO:0030996,MedGen:C5543280,OMIM:619271 24 24 1.0000 condition_architecture_interpretable 20 0 20 Bleeding_disorder,_platelet-type,_24 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IARS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 24 24 1.0000 condition_record_support_limited 20 24 3 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF1A hnf1a_related_disorder HNF1A-related disorder . 24 24 1.0000 condition_architecture_interpretable 20 0 18 HNF1A-related_disorder 384 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2D mondo_mondo_0024539_medgen_c4551884_omim_215500_orphanet_75377 Choroidal dystrophy, central areolar, 1 MONDO:MONDO:0024539,MedGen:C4551884,OMIM:215500,Orphanet:75377 24 24 1.0000 condition_architecture_interpretable 20 0 24 Choroidal_dystrophy,_central_areolar,_1 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA2 mondo_mondo_0013737_medgen_c2828721_omim_614409_orphanet_320391 Hereditary spastic paraplegia 46 MONDO:MONDO:0013737,MedGen:C2828721,OMIM:614409,Orphanet:320391 24 24 1.0000 condition_architecture_interpretable 20 0 10 Hereditary_spastic_paraplegia_46 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRA1 mondo_mondo_0014328_medgen_c3810400_omim_615744_orphanet_33069 Developmental and epileptic encephalopathy, 19 MONDO:MONDO:0014328,MedGen:C3810400,OMIM:615744,Orphanet:33069 24 24 1.0000 condition_architecture_interpretable 20 0 9 Developmental_and_epileptic_encephalopathy,_19 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXC2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 24 24 1.0000 condition_record_support_limited 20 24 5 not_provided 57 single_exon_hotspot_opportunity local_compact_architecture FKBP10 mondo_mondo_0009806_medgen_c1850168_omim_259450_orphanet_1149_orphanet_2771 Bruck syndrome 1 MONDO:MONDO:0009806,MedGen:C1850168,OMIM:259450,Orphanet:1149,Orphanet:2771 24 24 1.0000 condition_architecture_interpretable 20 0 21 Bruck_syndrome_1 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGA mondo_mondo_0014452_medgen_c0272350_omim_616004_orphanet_335_orphanet_98881 Familial dysfibrinogenemia MONDO:MONDO:0014452,MedGen:C0272350,OMIM:616004,Orphanet:335,Orphanet:98881 24 24 1.0000 condition_architecture_interpretable 20 0 19 Familial_dysfibrinogenemia 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGA mondo_mondo_0008737_medgen_c2584774_omim_202400_orphanet_335_orphanet_98880 Congenital afibrinogenemia MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880 24 24 1.0000 condition_architecture_interpretable 20 0 19 Congenital_afibrinogenemia 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FERMT3 mondo_mondo_0013016_medgen_c2748536_omim_612840_orphanet_2968_orphanet_99844 Leukocyte adhesion deficiency 3 MONDO:MONDO:0013016,MedGen:C2748536,OMIM:612840,Orphanet:2968,Orphanet:99844 24 24 1.0000 condition_architecture_interpretable 20 0 1 Leukocyte_adhesion_deficiency_3 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAT1 condition_not_provided condition not provided MedGen:C3661900 24 24 1.0000 condition_record_support_limited 20 24 0 not_provided 38 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FASTKD2 mondo_mondo_0030020_medgen_c5394293_omim_618855 Combined oxidative phosphorylation deficiency 44 MONDO:MONDO:0030020,MedGen:C5394293,OMIM:618855 24 24 1.0000 condition_architecture_interpretable 20 0 12 Combined_oxidative_phosphorylation_deficiency_44 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCA fanca_related_disorder FANCA-related disorder . 24 24 1.0000 condition_architecture_interpretable 20 0 22 FANCA-related_disorder 955 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F8 f8_related_disorder F8-related disorder . 24 24 1.0000 condition_architecture_interpretable 20 0 13 F8-related_disorder 641 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture F5 human_phenotype_ontology_hp_0003225_mondo_mondo_0020586_medgen_c4317320_orphanet_326 Factor V deficiency Human_Phenotype_Ontology:HP:0003225,MONDO:MONDO:0020586,MedGen:C4317320,Orphanet:326 24 24 1.0000 condition_architecture_interpretable 20 0 6 Factor_V_deficiency 109 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture F10 mondo_mondo_0009212_medgen_c0272327_omim_227600_orphanet_328 Hereditary factor X deficiency disease MONDO:MONDO:0009212,MedGen:C0272327,OMIM:227600,Orphanet:328 24 24 1.0000 condition_architecture_interpretable 20 0 3 Hereditary_factor_X_deficiency_disease 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETV6 condition_not_provided condition not provided .|MedGen:C3661900 24 24 1.0000 condition_record_support_limited 20 24 9 See_cases|not_provided 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSC2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 24 24 1.0000 condition_record_support_limited 20 24 12 not_provided 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DRC1 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 24 24 1.0000 condition_architecture_interpretable 20 0 8 Primary_ciliary_dyskinesia 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOCK8 condition_not_provided condition not provided .|MedGen:C3661900 24 24 1.0000 condition_record_support_limited 20 24 14 .|not_provided 120 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DNM1 condition_not_provided condition not provided MedGen:C3661900 24 24 1.0000 condition_record_support_limited 20 24 11 not_provided 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLL3 mondo_mondo_0020692_medgen_cn032975_omim_277300_orphanet_2311 Spondylocostal dysostosis 1, autosomal recessive MONDO:MONDO:0020692,MedGen:CN032975,OMIM:277300,Orphanet:2311 24 24 1.0000 condition_architecture_interpretable 20 0 12 Spondylocostal_dysostosis_1,_autosomal_recessive 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DENND5A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 24 24 1.0000 condition_record_support_limited 20 24 2 not_provided 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRLF1 mondo_mondo_0010091_medgen_c1848947_omim_272430_orphanet_1545_orphanet_157820 Cold-induced sweating syndrome 1 MONDO:MONDO:0010091,MedGen:C1848947,OMIM:272430,Orphanet:1545,Orphanet:157820 24 24 1.0000 condition_architecture_interpretable 20 0 5 Cold-induced_sweating_syndrome_1 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL11A2 mondo_mondo_0044206_medgen_cn034493_omim_215150_orphanet_1427 Otospondylomegaepiphyseal dysplasia, autosomal recessive MONDO:MONDO:0044206,MedGen:CN034493,OMIM:215150,Orphanet:1427 24 24 1.0000 condition_architecture_interpretable 20 0 16 Otospondylomegaepiphyseal_dysplasia,_autosomal_recessive 197 large_gene_or_donor_burden_stress_case donor_burden_stress CNOT1 mondo_mondo_0033618_medgen_c5436647_omim_619033 Vissers-Bodmer syndrome MONDO:MONDO:0033618,MedGen:C5436647,OMIM:619033 24 24 1.0000 condition_architecture_interpretable 20 0 7 Vissers-Bodmer_syndrome 45 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHST14 mondo_mondo_0011142_medgen_c1866294_orphanet_2953 Ehlers-Danlos syndrome, musculocontractural type MONDO:MONDO:0011142,MedGen:C1866294,Orphanet:2953 24 24 1.0000 condition_architecture_interpretable 20 0 10 Ehlers-Danlos_syndrome,_musculocontractural_type 37 single_exon_hotspot_opportunity local_compact_architecture CEP290 mondo_mondo_0100451_medgen_cn305601 CEP290-related ciliopathy MONDO:MONDO:0100451,MedGen:CN305601 24 24 1.0000 condition_architecture_interpretable 20 0 23 CEP290-related_ciliopathy 949 large_gene_or_donor_burden_stress_case donor_burden_stress CDK10 mondo_mondo_0044324_medgen_c4540156_omim_617694 Al Kaissi syndrome MONDO:MONDO:0044324,MedGen:C4540156,OMIM:617694 24 24 1.0000 condition_architecture_interpretable 20 0 8 Al_Kaissi_syndrome 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC73 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 24 24 1.0000 condition_record_support_limited 20 24 14 not_provided 152 compact_adjacent_exon_block_opportunity local_compact_architecture CC2D2A cc2d2a_related_disorder CC2D2A-related disorder MedGen:CN239313 24 24 1.0000 condition_architecture_interpretable 20 0 22 CC2D2A-related_disorder 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBS mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 24 24 1.0000 condition_architecture_interpretable 20 0 24 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CANT1 mondo_mondo_0009629_medgen_c4012146_omim_251450_orphanet_1425 Desbuquois dysplasia 1 MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450,Orphanet:1425 24 24 1.0000 condition_architecture_interpretable 20 0 16 Desbuquois_dysplasia_1 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNA1C mondo_mondo_0010979_mesh_c536962_medgen_c1832916_omim_601005_orphanet_65283 Timothy syndrome MONDO:MONDO:0010979,MeSH:C536962,MedGen:C1832916,OMIM:601005,Orphanet:65283 24 24 1.0000 condition_architecture_interpretable 20 0 18 Timothy_syndrome 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture C10ORF105 mondo_mondo_0054601_medgen_c4539685_omim_617540 Pituitary adenoma 5, multiple types MONDO:MONDO:0054601,MedGen:C4539685,OMIM:617540 24 24 1.0000 condition_architecture_interpretable 20 0 15 Pituitary_adenoma_5,_multiple_types 65 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture BRIP1 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 24 24 1.0000 condition_architecture_interpretable 20 0 16 Gastric_cancer 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control B4GALT7 mondo_mondo_0007526_medgen_cn030853_orphanet_75496 Ehlers-Danlos syndrome progeroid type MONDO:MONDO:0007526,MedGen:CN030853,Orphanet:75496 24 24 1.0000 condition_architecture_interpretable 20 0 6 Ehlers-Danlos_syndrome_progeroid_type 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATM mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 24 24 1.0000 condition_architecture_interpretable 20 0 21 Hereditary_breast_ovarian_cancer_syndrome 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ARSB condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 24 24 1.0000 condition_record_support_limited 20 24 23 not_provided 254 compact_adjacent_exon_block_opportunity local_compact_architecture ANO5 mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 Autosomal recessive limb-girdle muscular dystrophy MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 24 24 1.0000 condition_architecture_interpretable 20 0 23 Autosomal_recessive_limb-girdle_muscular_dystrophy 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMER1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 24 24 1.0000 condition_record_support_limited 20 24 7 not_provided 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFG3L2 mondo_mondo_0012450_medgen_c1853249_omim_610246_orphanet_101109 Spinocerebellar ataxia type 28 MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246,Orphanet:101109 24 24 1.0000 condition_architecture_interpretable 20 0 11 Spinocerebellar_ataxia_type_28 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRV1 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 24 24 1.0000 condition_architecture_interpretable 20 0 14 Rare_genetic_deafness 650 large_gene_or_donor_burden_stress_case donor_burden_stress ADAMTS10 condition_not_provided condition not provided MedGen:C3661900 24 24 1.0000 condition_record_support_limited 20 24 2 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAM17 mondo_mondo_0013693_medgen_c3280501_omim_614328_orphanet_294023 Inflammatory skin and bowel disease, neonatal, 1 MONDO:MONDO:0013693,MedGen:C3280501,OMIM:614328,Orphanet:294023 24 24 1.0000 condition_architecture_interpretable 20 0 1 Inflammatory_skin_and_bowel_disease,_neonatal,_1 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADA condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 24 24 1.0000 condition_record_support_limited 20 24 22 not_provided|not_specified 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB11 abcb11_related_disorder ABCB11-related disorder . 24 24 1.0000 condition_architecture_interpretable 20 0 21 ABCB11-related_disorder 318 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBA5 mondo_mondo_0014933_medgen_c4310700_omim_617132 Developmental and epileptic encephalopathy, 44 MONDO:MONDO:0014933,MedGen:C4310700,OMIM:617132 23 23 1.0000 condition_architecture_interpretable 20 0 9 Developmental_and_epileptic_encephalopathy,_44 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TWIST1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 23 23 1.0000 condition_record_support_limited 20 23 13 not_provided 96 compact_adjacent_exon_block_opportunity local_compact_architecture TTC8 mondo_mondo_0014436_medgen_c1859566_omim_615985_orphanet_110 Bardet-Biedl syndrome 8 MONDO:MONDO:0014436,MedGen:C1859566,OMIM:615985,Orphanet:110 23 23 1.0000 condition_architecture_interpretable 20 0 16 Bardet-Biedl_syndrome_8 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIP4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 23 23 1.0000 condition_record_support_limited 20 23 7 not_provided|not_specified 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIM32 mondo_mondo_0009683_medgen_c0270968_omim_254110_orphanet_1878 Sarcotubular myopathy MONDO:MONDO:0009683,MedGen:C0270968,OMIM:254110,Orphanet:1878 23 23 1.0000 condition_architecture_interpretable 20 0 20 Sarcotubular_myopathy 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM1 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 23 23 1.0000 condition_architecture_interpretable 20 0 13 Hypertrophic_cardiomyopathy 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP63 mondo_mondo_0011428_medgen_c1858562_omim_604292_orphanet_1896 Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 MONDO:MONDO:0011428,MedGen:C1858562,OMIM:604292,Orphanet:1896 23 23 1.0000 condition_architecture_interpretable 20 0 17 Ectrodactyly,_ectodermal_dysplasia,_and_cleft_lip-palate_syndrome_3 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP53 mondo_mondo_0015459_medgen_c2931822_omim_607107_orphanet_150 Nasopharyngeal carcinoma MONDO:MONDO:0015459,MedGen:C2931822,OMIM:607107,Orphanet:150 23 23 1.0000 condition_architecture_interpretable 20 0 23 Nasopharyngeal_carcinoma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 mondo_mondo_0002629_medgen_c0585442_omim_259500_orphanet_668 Bone osteosarcoma MONDO:MONDO:0002629,MedGen:C0585442,OMIM:259500,Orphanet:668 23 23 1.0000 condition_architecture_interpretable 20 0 23 Bone_osteosarcoma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 mondo_mondo_0013876_medgen_c3553606_omim_614740 Basal cell carcinoma, susceptibility to, 7 MONDO:MONDO:0013876,MedGen:C3553606,OMIM:614740 23 23 1.0000 condition_architecture_interpretable 20 0 23 Basal_cell_carcinoma,_susceptibility_to,_7 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TONSL mondo_mondo_0010068_medgen_c1300260_omim_271510_orphanet_93357 Sponastrime dysplasia MONDO:MONDO:0010068,MedGen:C1300260,OMIM:271510,Orphanet:93357 23 23 1.0000 condition_architecture_interpretable 20 0 8 Sponastrime_dysplasia 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERT mondo_mondo_0015780_medgen_c0265965_omim_ps127550_orphanet_1775 Dyskeratosis congenita MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775 23 23 1.0000 condition_architecture_interpretable 20 0 15 Dyskeratosis_congenita 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STUB1 mondo_mondo_0014339_medgen_c5190574_omim_615768_orphanet_412057 Autosomal recessive spinocerebellar ataxia 16 MONDO:MONDO:0014339,MedGen:C5190574,OMIM:615768,Orphanet:412057 23 23 1.0000 condition_architecture_interpretable 20 0 8 Autosomal_recessive_spinocerebellar_ataxia_16 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAG1 mondo_mondo_0030912_medgen_c4539951_omim_617635_orphanet_502434 Intellectual disability, autosomal dominant 47 MONDO:MONDO:0030912,MedGen:C4539951,OMIM:617635,Orphanet:502434 23 23 1.0000 condition_architecture_interpretable 20 0 6 Intellectual_disability,_autosomal_dominant_47 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPTA1 mondo_mondo_0010053_medgen_c2678338_omim_270970_orphanet_822 Hereditary spherocytosis type 3 MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822 23 23 1.0000 condition_architecture_interpretable 20 0 15 Hereditary_spherocytosis_type_3 210 large_gene_or_donor_burden_stress_case donor_burden_stress SPR mondo_mondo_0012994_medgen_c0268468_omim_612716_orphanet_70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:MONDO:0012994,MedGen:C0268468,OMIM:612716,Orphanet:70594 23 23 1.0000 condition_architecture_interpretable 20 0 9 Dopa-responsive_dystonia_due_to_sepiapterin_reductase_deficiency 36 compact_adjacent_exon_block_opportunity local_compact_architecture SOX10 mondo_mondo_0012198_medgen_c1836727_omim_609136_orphanet_163746 PCWH syndrome MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136,Orphanet:163746 23 23 1.0000 condition_architecture_interpretable 20 0 7 PCWH_syndrome 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLCO2A1 condition_not_provided condition not provided MedGen:C3661900 23 23 1.0000 condition_record_support_limited 20 23 15 not_provided 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC9A6 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 23 23 1.0000 condition_record_support_limited 20 23 9 not_provided|not_specified 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 23 23 1.0000 condition_architecture_interpretable 20 0 13 Inborn_genetic_diseases 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC19A3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 23 23 1.0000 condition_record_support_limited 20 23 18 not_provided 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SKI mondo_mondo_0008426_medgen_c1321551_omim_182212_orphanet_2462 Shprintzen-Goldberg syndrome MONDO:MONDO:0008426,MedGen:C1321551,OMIM:182212,Orphanet:2462 23 23 1.0000 condition_architecture_interpretable 20 0 6 Shprintzen-Goldberg_syndrome 32 compact_adjacent_exon_block_opportunity local_compact_architecture SHH human_phenotype_ontology_hp_0001568_human_phenotype_ontology_hp_0001573_human_phenotype_ontology_hp_0006315_human_phenotype_ontology_hp_0006356_mondo_mondo_0007819_medgen_c1840235_omim_147250 Solitary median maxillary central incisor syndrome Human_Phenotype_Ontology:HP:0001568,Human_Phenotype_Ontology:HP:0001573,Human_Phenotype_Ontology:HP:0006315,Human_Phenotype_Ontology:HP:0006356,MONDO:MONDO:0007819,MedGen:C1840235,OMIM:147250 23 23 1.0000 condition_architecture_interpretable 20 0 5 Solitary_median_maxillary_central_incisor_syndrome 125 compact_adjacent_exon_block_opportunity local_compact_architecture SGCD mondo_mondo_0011702_medgen_c1847667_omim_606685_orphanet_154 Dilated cardiomyopathy 1L MONDO:MONDO:0011702,MedGen:C1847667,OMIM:606685,Orphanet:154 23 23 1.0000 condition_architecture_interpretable 20 0 16 Dilated_cardiomyopathy_1L 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RSPH1 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 23 23 1.0000 condition_architecture_interpretable 20 0 6 Primary_ciliary_dyskinesia 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 23 23 1.0000 condition_architecture_interpretable 20 0 17 Retinal_dystrophy 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RMND1 condition_not_provided condition not provided MedGen:C3661900 23 23 1.0000 condition_record_support_limited 20 23 9 not_provided 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RDH12 condition_not_provided condition not provided MedGen:C3661900 23 23 1.0000 condition_record_support_limited 20 23 23 not_provided 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBM10 mondo_mondo_0010711_medgen_c1839463_omim_311900_orphanet_2886 TARP syndrome MONDO:MONDO:0010711,MedGen:C1839463,OMIM:311900,Orphanet:2886 23 23 1.0000 condition_architecture_interpretable 20 0 2 TARP_syndrome 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAG2 mondo_mondo_0003778_medgen_c0398686_orphanet_101997 Inborn error of immunity MONDO:MONDO:0003778,MedGen:C0398686,Orphanet:101997 23 23 1.0000 condition_architecture_interpretable 20 0 23 Inborn_error_of_immunity 147 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD51D mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 23 23 1.0000 condition_architecture_interpretable 20 0 21 Hereditary_breast_ovarian_cancer_syndrome 245 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PRX mondo_mondo_0013959_medgen_c3540453_omim_614895_orphanet_99952 Charcot-Marie-Tooth disease type 4F MONDO:MONDO:0013959,MedGen:C3540453,OMIM:614895,Orphanet:99952 23 23 1.0000 condition_architecture_interpretable 20 0 16 Charcot-Marie-Tooth_disease_type_4F 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRSS56 mondo_mondo_0013293_medgen_c3150757_omim_613517_orphanet_2542 Isolated microphthalmia 6 MONDO:MONDO:0013293,MedGen:C3150757,OMIM:613517,Orphanet:2542 23 23 1.0000 condition_architecture_interpretable 20 0 1 Isolated_microphthalmia_6 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROS1 mondo_mondo_0002304_mesh_d018455_medgen_c0242666 Protein S deficiency disease MONDO:MONDO:0002304,MeSH:D018455,MedGen:C0242666 23 23 1.0000 condition_architecture_interpretable 20 0 9 Protein_S_deficiency_disease 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP2R5D mondo_mondo_0014602_medgen_c5779996_omim_616355_orphanet_457279 Hogue-Janssens syndrome 1 MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279 23 23 1.0000 condition_architecture_interpretable 20 0 12 Hogue-Janssens_syndrome_1 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POP1 condition_not_provided condition not provided MedGen:C3661900 23 23 1.0000 condition_record_support_limited 20 23 1 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR2F mondo_mondo_0012198_medgen_c1836727_omim_609136_orphanet_163746 PCWH syndrome MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136,Orphanet:163746 23 23 1.0000 condition_architecture_interpretable 20 0 7 PCWH_syndrome 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG mondo_mondo_0018158_medgen_c0342782_omim_ps603041_orphanet_35698 Mitochondrial DNA depletion syndrome MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041,Orphanet:35698 23 23 1.0000 condition_architecture_interpretable 20 0 19 Mitochondrial_DNA_depletion_syndrome 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMP22 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 23 23 1.0000 condition_architecture_interpretable 20 0 19 Charcot-Marie-Tooth_disease 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLA2G6 mondo_mondo_0018307_medgen_c2931845_omim_ps234200_orphanet_385 Neurodegeneration with brain iron accumulation MONDO:MONDO:0018307,MedGen:C2931845,OMIM:PS234200,Orphanet:385 23 23 1.0000 condition_architecture_interpretable 20 0 20 Neurodegeneration_with_brain_iron_accumulation 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLA2G6 human_phenotype_ontology_hp_0012675_medgen_c4021076 Iron accumulation in brain Human_Phenotype_Ontology:HP:0012675,MedGen:C4021076 23 23 1.0000 condition_architecture_interpretable 20 0 16 Iron_accumulation_in_brain 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0016063_medgen_c0018553_omim_ps158350_orphanet_201 Cowden syndrome MONDO:MONDO:0016063,MedGen:C0018553,OMIM:PS158350,Orphanet:201 23 23 1.0000 condition_architecture_interpretable 20 0 22 Cowden_syndrome 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGT mondo_mondo_0014165_medgen_c3809356_omim_615398_orphanet_369837 Multiple congenital anomalies-hypotonia-seizures syndrome 3 MONDO:MONDO:0014165,MedGen:C3809356,OMIM:615398,Orphanet:369837 23 23 1.0000 condition_architecture_interpretable 20 0 13 Multiple_congenital_anomalies-hypotonia-seizures_syndrome_3 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHEX human_phenotype_ontology_hp_0004912_mondo_mondo_0024300_mesh_d063730_medgen_c1704375 Hypophosphatemic rickets Human_Phenotype_Ontology:HP:0004912,MONDO:MONDO:0024300,MeSH:D063730,MedGen:C1704375 23 23 1.0000 condition_architecture_interpretable 20 0 12 Hypophosphatemic_rickets 842 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE3B condition_not_provided condition not provided MedGen:C3661900 23 23 1.0000 condition_record_support_limited 20 23 10 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PALB2 inherited_breast_cancer_and_ovarian_cancer Inherited breast cancer and ovarian cancer . 23 23 1.0000 condition_architecture_interpretable 20 0 20 Inherited_breast_cancer_and_ovarian_cancer 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PALB2 breast_and_or_ovarian_cancer Breast and/or ovarian cancer MedGen:CN221562 23 23 1.0000 condition_architecture_interpretable 20 0 21 Breast_and/or_ovarian_cancer 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ODAD1 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 23 23 1.0000 condition_architecture_interpretable 20 0 7 Primary_ciliary_dyskinesia 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NSUN2 mondo_mondo_0012613_medgen_c1970199_omim_611091_orphanet_88616 Intellectual disability, autosomal recessive 5 MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091,Orphanet:88616 23 23 1.0000 condition_architecture_interpretable 20 0 7 Intellectual_disability,_autosomal_recessive_5 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRXN1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 23 23 1.0000 condition_record_support_limited 20 23 8 not_provided 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPRL3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 23 23 1.0000 condition_record_support_limited 20 23 11 not_provided 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NKX2-1 mondo_mondo_0021011_medgen_c0393584_omim_118700_orphanet_1429 Benign hereditary chorea MONDO:MONDO:0021011,MedGen:C0393584,OMIM:118700,Orphanet:1429 23 23 1.0000 condition_architecture_interpretable 20 0 7 Benign_hereditary_chorea 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NIPBL nipbl_related_disorder NIPBL-related disorder . 23 23 1.0000 condition_architecture_interpretable 20 0 12 NIPBL-related_disorder 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NFIB mondo_mondo_0032658_medgen_c4748993_omim_618286 Macrocephaly, acquired, with impaired intellectual development MONDO:MONDO:0032658,MedGen:C4748993,OMIM:618286 23 23 1.0000 condition_architecture_interpretable 20 0 12 Macrocephaly,_acquired,_with_impaired_intellectual_development 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEXN mondo_mondo_0013477_medgen_c3151267_omim_613876 Hypertrophic cardiomyopathy 20 MONDO:MONDO:0013477,MedGen:C3151267,OMIM:613876 23 23 1.0000 condition_architecture_interpretable 20 0 22 Hypertrophic_cardiomyopathy_20 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEU1 mondo_mondo_0009738_medgen_c4282398_omim_256550_orphanet_812_orphanet_87876 Sialidosis type 2 MONDO:MONDO:0009738,MedGen:C4282398,OMIM:256550,Orphanet:812,Orphanet:87876 23 23 1.0000 condition_architecture_interpretable 20 0 16 Sialidosis_type_2 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEK8 mondo_mondo_0013444_medgen_c3151188_omim_613824_orphanet_655 Nephronophthisis 9 MONDO:MONDO:0013444,MedGen:C3151188,OMIM:613824,Orphanet:655 23 23 1.0000 condition_architecture_interpretable 20 0 14 Nephronophthisis_9 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFS6 mondo_mondo_0032615_medgen_c4748767_omim_618232 Mitochondrial complex I deficiency, nuclear type 9 MONDO:MONDO:0032615,MedGen:C4748767,OMIM:618232 23 23 1.0000 condition_architecture_interpretable 20 0 13 Mitochondrial_complex_I_deficiency,_nuclear_type_9 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NBAS mondo_mondo_0013111_medgen_c3278664_omim_613070_orphanet_217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070,Orphanet:217371 23 23 1.0000 condition_architecture_interpretable 20 0 18 Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins 245 large_gene_or_donor_burden_stress_case donor_burden_stress MYH7 myh7_related_disorder MYH7-related disorder . 23 23 1.0000 condition_architecture_interpretable 20 0 19 MYH7-related_disorder 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MTFMT condition_not_provided condition not provided MedGen:C3661900 23 23 1.0000 condition_record_support_limited 20 23 8 not_provided 32 compact_adjacent_exon_block_opportunity local_compact_architecture MORC2 mondo_mondo_0014736_medgen_c5569025_omim_616688_orphanet_466768 Charcot-Marie-Tooth disease axonal type 2Z MONDO:MONDO:0014736,MedGen:C5569025,OMIM:616688,Orphanet:466768 23 23 1.0000 condition_architecture_interpretable 20 0 12 Charcot-Marie-Tooth_disease_axonal_type_2Z 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MOCS2 mondo_mondo_0009644_medgen_c1854989_omim_252160_orphanet_308393_orphanet_833 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 MONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160,Orphanet:308393,Orphanet:833 23 23 1.0000 condition_architecture_interpretable 20 0 14 Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_B1 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MC2R mondo_mondo_0024536_medgen_c4049650_omim_202200_orphanet_361 Glucocorticoid deficiency 1 MONDO:MONDO:0024536,MedGen:C4049650,OMIM:202200,Orphanet:361 23 23 1.0000 condition_architecture_interpretable 20 0 6 Glucocorticoid_deficiency_1 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MARK2 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 23 23 1.0000 condition_architecture_interpretable 20 0 9 Autism_spectrum_disorder 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LZTR1 mondo_mondo_0008075_mesh_c536641_medgen_c1335929_omim_ps162091_orphanet_93921 Schwannomatosis MONDO:MONDO:0008075,MeSH:C536641,MedGen:C1335929,OMIM:PS162091,Orphanet:93921 23 23 1.0000 condition_architecture_interpretable 20 0 17 Schwannomatosis 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP6 mondo_mondo_0014749_medgen_c4225231_omim_616724_orphanet_99798 Tooth agenesis, selective, 7 MONDO:MONDO:0014749,MedGen:C4225231,OMIM:616724,Orphanet:99798 23 23 1.0000 condition_architecture_interpretable 20 0 6 Tooth_agenesis,_selective,_7 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMB1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 23 23 1.0000 condition_record_support_limited 20 23 2 not_provided 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KLHL7 condition_not_provided condition not provided MedGen:C3661900 23 23 1.0000 condition_record_support_limited 20 23 6 not_provided 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM4B mondo_mondo_0023657_medgen_c5543371_omim_619320 Intellectual developmental disorder, autosomal dominant 65 MONDO:MONDO:0023657,MedGen:C5543371,OMIM:619320 23 23 1.0000 condition_architecture_interpretable 20 0 1 Intellectual_developmental_disorder,_autosomal_dominant_65 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ11 mondo_mondo_0100164_medgen_c1833104_omim_ps606176_orphanet_99885 Permanent neonatal diabetes mellitus MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885 23 23 1.0000 condition_architecture_interpretable 20 0 18 Permanent_neonatal_diabetes_mellitus 72 single_exon_hotspot_opportunity local_compact_architecture IRAK1BP1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 23 23 1.0000 condition_record_support_limited 20 23 11 not_provided 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INPPL1 mondo_mondo_0009785_medgen_c0432219_omim_258480_orphanet_2746 Opsismodysplasia MONDO:MONDO:0009785,MedGen:C0432219,OMIM:258480,Orphanet:2746 23 23 1.0000 condition_architecture_interpretable 20 0 4 Opsismodysplasia 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL10RA mondo_mondo_0013153_medgen_c2751053_omim_613148_orphanet_238569 Inflammatory bowel disease 28 MONDO:MONDO:0013153,MedGen:C2751053,OMIM:613148,Orphanet:238569 23 23 1.0000 condition_architecture_interpretable 20 0 1 Inflammatory_bowel_disease_28 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSPG2 mondo_mondo_0100435_medgen_c4551479_omim_255800 Schwartz-Jampel syndrome type 1 MONDO:MONDO:0100435,MedGen:C4551479,OMIM:255800 23 23 1.0000 condition_architecture_interpretable 20 0 9 Schwartz-Jampel_syndrome_type_1 116 large_gene_or_donor_burden_stress_case donor_burden_stress HNF1A mondo_mondo_0007718_medgen_c1840646_omim_142330 Hepatic adenomas, familial MONDO:MONDO:0007718,MedGen:C1840646,OMIM:142330 23 23 1.0000 condition_architecture_interpretable 20 0 23 Hepatic_adenomas,_familial 384 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HBA2 mondo_mondo_0013512_medgen_c3161174_omim_613978_orphanet_93616 Hemoglobin H disease MONDO:MONDO:0013512,MedGen:C3161174,OMIM:613978,Orphanet:93616 23 23 1.0000 condition_architecture_interpretable 20 0 23 Hemoglobin_H_disease 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 mondo_mondo_0020835_medgen_c4693798_omim_617973 Methemoglobinemia, alpha type MONDO:MONDO:0020835,MedGen:C4693798,OMIM:617973 23 23 1.0000 condition_architecture_interpretable 20 0 23 Methemoglobinemia,_alpha_type 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 mondo_mondo_0013512_medgen_c3161174_omim_613978_orphanet_93616 Hemoglobin H disease MONDO:MONDO:0013512,MedGen:C3161174,OMIM:613978,Orphanet:93616 23 23 1.0000 condition_architecture_interpretable 20 0 23 Hemoglobin_H_disease 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HACE1 mondo_mondo_0014764_medgen_c4225215_omim_616756_orphanet_464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome MONDO:MONDO:0014764,MedGen:C4225215,OMIM:616756,Orphanet:464282 23 23 1.0000 condition_architecture_interpretable 20 0 3 Spastic_paraplegia-severe_developmental_delay-epilepsy_syndrome 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture H1-4 mondo_mondo_0044323_medgen_c4479637_omim_617537_orphanet_642763 Rahman syndrome MONDO:MONDO:0044323,MedGen:C4479637,OMIM:617537,Orphanet:642763 23 23 1.0000 condition_architecture_interpretable 20 0 11 Rahman_syndrome 36 single_exon_hotspot_opportunity local_compact_architecture GPC3 mondo_mondo_0020602_medgen_c0796154_omim_312870_orphanet_373 Simpson-Golabi-Behmel syndrome type 1 MONDO:MONDO:0020602,MedGen:C0796154,OMIM:312870,Orphanet:373 23 23 1.0000 condition_architecture_interpretable 20 0 6 Simpson-Golabi-Behmel_syndrome_type_1 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP9 mondo_mondo_0009276_mesh_d001606_medgen_c0005129_omim_231200_orphanet_274 Bernard Soulier syndrome MONDO:MONDO:0009276,MeSH:D001606,MedGen:C0005129,OMIM:231200,Orphanet:274 23 23 1.0000 condition_architecture_interpretable 20 0 8 Bernard_Soulier_syndrome 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP1BA condition_not_provided condition not provided MedGen:C3661900 23 23 1.0000 condition_record_support_limited 20 23 14 not_provided 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNRHR condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 23 23 1.0000 condition_record_support_limited 20 23 14 See_cases|not_provided 43 compact_adjacent_exon_block_opportunity local_compact_architecture GNAS mondo_mondo_0012911_medgen_c2932716_omim_612462_orphanet_79444 Pseudohypoparathyroidism type 1C MONDO:MONDO:0012911,MedGen:C2932716,OMIM:612462,Orphanet:79444 23 23 1.0000 condition_architecture_interpretable 20 0 19 Pseudohypoparathyroidism_type_1C 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI3 gli3_related_disorder GLI3-related disorder MedGen:CN239292 23 23 1.0000 condition_architecture_interpretable 20 0 7 GLI3-related_disorder 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GHR mondo_mondo_0009877_medgen_c0271568_omim_262500_orphanet_633 Laron-type isolated somatotropin defect MONDO:MONDO:0009877,MedGen:C0271568,OMIM:262500,Orphanet:633 23 23 1.0000 condition_architecture_interpretable 20 0 13 Laron-type_isolated_somatotropin_defect 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATAD1 condition_not_provided condition not provided MedGen:C3661900 23 23 1.0000 condition_record_support_limited 20 23 20 not_provided 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA6 mondo_mondo_0010802_medgen_c2931296_omim_600001_orphanet_2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:MONDO:0010802,MedGen:C2931296,OMIM:600001,Orphanet:2255 23 23 1.0000 condition_architecture_interpretable 20 0 8 Pancreatic_hypoplasia-diabetes-congenital_heart_disease_syndrome 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRB2 mondo_mondo_0020631_medgen_c4693362_omim_617829 Developmental and epileptic encephalopathy 92 MONDO:MONDO:0020631,MedGen:C4693362,OMIM:617829 23 23 1.0000 condition_architecture_interpretable 20 0 9 Developmental_and_epileptic_encephalopathy_92 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FTL mondo_mondo_0011638_medgen_c1853578_omim_606159_orphanet_157846 Neuroferritinopathy MONDO:MONDO:0011638,MedGen:C1853578,OMIM:606159,Orphanet:157846 23 23 1.0000 condition_architecture_interpretable 20 0 17 Neuroferritinopathy 31 compact_adjacent_exon_block_opportunity local_compact_architecture FRMD7 mondo_mondo_0010693_medgen_c1839580_omim_310700 Nystagmus 1, congenital, X-linked MONDO:MONDO:0010693,MedGen:C1839580,OMIM:310700 23 23 1.0000 condition_architecture_interpretable 20 0 9 Nystagmus_1,_congenital,_X-linked 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOLR1 mondo_mondo_0013110_medgen_c2751584_omim_613068_orphanet_217382 Cerebral folate transport deficiency MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068,Orphanet:217382 23 23 1.0000 condition_architecture_interpretable 20 0 4 Cerebral_folate_transport_deficiency 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKTN condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 23 23 1.0000 condition_record_support_limited 20 23 18 See_cases|not_provided 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 23 23 1.0000 condition_architecture_interpretable 20 0 22 Cardiovascular_phenotype 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 mondo_mondo_0007037_medgen_c0001080_omim_100800_orphanet_15 Achondroplasia MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800,Orphanet:15 23 23 1.0000 condition_architecture_interpretable 20 0 21 Achondroplasia 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 mondo_mondo_0014196_medgen_c1845146_omim_615465_orphanet_2117 Hartsfield-Bixler-Demyer syndrome MONDO:MONDO:0014196,MedGen:C1845146,OMIM:615465,Orphanet:2117 23 23 1.0000 condition_architecture_interpretable 20 0 12 Hartsfield-Bixler-Demyer_syndrome 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCD2 condition_not_provided condition not provided .|MedGen:C3661900 23 23 1.0000 condition_record_support_limited 20 23 17 See_cases|not_provided 279 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERF mondo_mondo_0007399_medgen_c4551902_omim_123100_orphanet_63440 TWIST1-related craniosynostosis MONDO:MONDO:0007399,MedGen:C4551902,OMIM:123100,Orphanet:63440 23 23 1.0000 condition_architecture_interpretable 20 0 11 TWIST1-related_craniosynostosis 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENPP1 mondo_mondo_0014227_medgen_c3809781_omim_615522_orphanet_324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome MONDO:MONDO:0014227,MedGen:C3809781,OMIM:615522,Orphanet:324561 23 23 1.0000 condition_architecture_interpretable 20 0 20 Hypopigmentation-punctate_palmoplantar_keratoderma_syndrome 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EEF1A2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 23 23 1.0000 condition_record_support_limited 20 23 11 not_provided 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EDAR condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 23 23 1.0000 condition_record_support_limited 20 23 11 not_provided 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSP mondo_mondo_0012323_medgen_c1864826_omim_609638_orphanet_158687 Lethal acantholytic epidermolysis bullosa MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687 23 23 1.0000 condition_architecture_interpretable 20 0 21 Lethal_acantholytic_epidermolysis_bullosa 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSP mondo_mondo_0013034_medgen_c1852127_omim_612908 Keratosis palmoplantaris striata 2 MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908 23 23 1.0000 condition_architecture_interpretable 20 0 21 Keratosis_palmoplantaris_striata_2 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DPYS condition_not_provided condition not provided MedGen:C3661900 23 23 1.0000 condition_record_support_limited 20 23 13 not_provided 31 compact_adjacent_exon_block_opportunity local_compact_architecture DNM2 mondo_mondo_0011674_medgen_c1847902_omim_606482_orphanet_100044_orphanet_228179 Charcot-Marie-Tooth disease dominant intermediate B MONDO:MONDO:0011674,MedGen:C1847902,OMIM:606482,Orphanet:100044,Orphanet:228179 23 23 1.0000 condition_architecture_interpretable 20 0 20 Charcot-Marie-Tooth_disease_dominant_intermediate_B 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJB2 mondo_mondo_0013947_medgen_c4749918_omim_614881_orphanet_314485 Neuronopathy, distal hereditary motor, autosomal recessive 5 MONDO:MONDO:0013947,MedGen:C4749918,OMIM:614881,Orphanet:314485 23 23 1.0000 condition_architecture_interpretable 20 0 4 Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_5 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DKC1 mondo_mondo_0010584_medgen_c1148551_omim_305000 Dyskeratosis congenita, X-linked MONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000 23 23 1.0000 condition_architecture_interpretable 20 0 8 Dyskeratosis_congenita,_X-linked 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DICER1 human_phenotype_ontology_hp_0009798_mondo_mondo_0007681_medgen_c0302859_omim_138800_orphanet_276399 Euthyroid goiter Human_Phenotype_Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800,Orphanet:276399 23 23 1.0000 condition_architecture_interpretable 20 0 20 Euthyroid_goiter 833 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control DHCR7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 23 23 1.0000 condition_architecture_interpretable 20 0 22 Inborn_genetic_diseases 300 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHCR7 dhcr7_related_disorder DHCR7-related disorder . 23 23 1.0000 condition_architecture_interpretable 20 0 22 DHCR7-related_disorder 300 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCDC2 mondo_mondo_0018816_medgen_c4479344_omim_617394_orphanet_480556 Isolated neonatal sclerosing cholangitis MONDO:MONDO:0018816,MedGen:C4479344,OMIM:617394,Orphanet:480556 23 23 1.0000 condition_architecture_interpretable 20 0 17 Isolated_neonatal_sclerosing_cholangitis 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture D2HGDH mondo_mondo_0024554_medgen_c3152055_omim_600721_orphanet_79315 D-2-hydroxyglutaric aciduria 1 MONDO:MONDO:0024554,MedGen:C3152055,OMIM:600721,Orphanet:79315 23 23 1.0000 condition_architecture_interpretable 20 0 3 D-2-hydroxyglutaric_aciduria_1 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP2R1 condition_not_provided condition not provided MedGen:C3661900 23 23 1.0000 condition_record_support_limited 20 23 10 not_provided 30 compact_adjacent_exon_block_opportunity local_compact_architecture CUL4B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 23 23 1.0000 condition_record_support_limited 20 23 4 not_provided 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPOX condition_not_provided condition not provided MedGen:C3661900 23 23 1.0000 condition_record_support_limited 20 23 4 not_provided 40 compact_adjacent_exon_block_opportunity local_compact_architecture COQ2 condition_not_provided condition not provided MedGen:C3661900 23 23 1.0000 condition_record_support_limited 20 23 9 not_provided 40 compact_adjacent_exon_block_opportunity local_compact_architecture COL6A2 mondo_mondo_0009681_medgen_c0410179_omim_254090_orphanet_75840 Ullrich congenital muscular dystrophy 1A MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840 23 23 1.0000 condition_architecture_interpretable 20 0 14 Ullrich_congenital_muscular_dystrophy_1A 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL2A1 mondo_mondo_0022800_medgen_c2931073_orphanet_93421 Type 2 collagenopathy MONDO:MONDO:0022800,MedGen:C2931073,Orphanet:93421 23 23 1.0000 condition_architecture_interpretable 20 0 12 Type_2_collagenopathy 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A2 mondo_mondo_0008490_medgen_c1848488_omim_184840_orphanet_166100_orphanet_3450 Otospondylomegaepiphyseal dysplasia, autosomal dominant MONDO:MONDO:0008490,MedGen:C1848488,OMIM:184840,Orphanet:166100,Orphanet:3450 23 23 1.0000 condition_architecture_interpretable 20 0 19 Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant 197 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A1 mondo_mondo_0007949_medgen_c0265235_omim_154780_orphanet_560 Marshall syndrome MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780,Orphanet:560 23 23 1.0000 condition_architecture_interpretable 20 0 17 Marshall_syndrome 248 large_gene_or_donor_burden_stress_case donor_burden_stress CLDN19 mondo_mondo_0009548_medgen_c4721891_omim_248190_orphanet_2196 Renal hypomagnesemia 5 with ocular involvement MONDO:MONDO:0009548,MedGen:C4721891,OMIM:248190,Orphanet:2196 23 23 1.0000 condition_architecture_interpretable 20 0 4 Renal_hypomagnesemia_5_with_ocular_involvement 25 compact_adjacent_exon_block_opportunity local_compact_architecture CLCN2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 23 23 1.0000 condition_record_support_limited 20 23 11 not_provided 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN2 mondo_mondo_0014292_medgen_c4554120_omim_615651_orphanet_363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema MONDO:MONDO:0014292,MedGen:C4554120,OMIM:615651,Orphanet:363540 23 23 1.0000 condition_architecture_interpretable 20 0 15 Leukoencephalopathy_with_mild_cerebellar_ataxia_and_white_matter_edema 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNB1 mondo_mondo_0014581_medgen_c4225374_omim_616313_orphanet_590 Congenital myasthenic syndrome 2A MONDO:MONDO:0014581,MedGen:C4225374,OMIM:616313,Orphanet:590 23 23 1.0000 condition_architecture_interpretable 20 0 8 Congenital_myasthenic_syndrome_2A 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHD3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 23 23 1.0000 condition_architecture_interpretable 20 0 8 Inborn_genetic_diseases 122 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CFTR cystic_fibrosis_diagnostic_test Cystic fibrosis diagnostic test . 23 23 1.0000 condition_architecture_interpretable 20 0 22 Cystic_fibrosis_diagnostic_test 1471 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CERKL human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 23 23 1.0000 condition_architecture_interpretable 20 0 22 Retinitis_pigmentosa 202 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP152 mondo_mondo_0013443_medgen_c3151187_omim_613823_orphanet_808 Seckel syndrome 5 MONDO:MONDO:0013443,MedGen:C3151187,OMIM:613823,Orphanet:808 23 23 1.0000 condition_architecture_interpretable 20 0 21 Seckel_syndrome_5 142 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1S condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 23 23 1.0000 condition_record_support_limited 20 23 13 not_provided 126 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture C11ORF65 atm_related_disorder ATM-related disorder . 23 23 1.0000 condition_architecture_interpretable 20 0 22 ATM-related_disorder 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BSND mondo_mondo_0015231_medgen_c0004775_omim_ps601678_orphanet_112 Bartter syndrome MONDO:MONDO:0015231,MedGen:C0004775,OMIM:PS601678,Orphanet:112 23 23 1.0000 condition_architecture_interpretable 20 0 16 Bartter_syndrome 39 compact_adjacent_exon_block_opportunity local_compact_architecture BCL11B condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 23 23 1.0000 condition_record_support_limited 20 23 5 See_cases|not_provided 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B4GALNT1 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 23 23 1.0000 condition_architecture_interpretable 20 0 6 Spastic_paraplegia 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B3GALT6 mondo_mondo_0014139_medgen_c3809210_omim_615349_orphanet_536467_orphanet_75496 Ehlers-Danlos syndrome, spondylodysplastic type, 2 MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349,Orphanet:536467,Orphanet:75496 23 23 1.0000 condition_architecture_interpretable 20 0 20 Ehlers-Danlos_syndrome,_spondylodysplastic_type,_2 36 single_exon_hotspot_opportunity local_compact_architecture AXDND1 condition_not_provided condition not provided MedGen:C3661900 23 23 1.0000 condition_record_support_limited 20 23 19 not_provided 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AVP mondo_mondo_0007450_medgen_c0342394_omim_125700_orphanet_178029_orphanet_30925 Neurohypophyseal diabetes insipidus MONDO:MONDO:0007450,MedGen:C0342394,OMIM:125700,Orphanet:178029,Orphanet:30925 23 23 1.0000 condition_architecture_interpretable 20 0 7 Neurohypophyseal_diabetes_insipidus 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASTN2 mondo_mondo_0009683_medgen_c0270968_omim_254110_orphanet_1878 Sarcotubular myopathy MONDO:MONDO:0009683,MedGen:C0270968,OMIM:254110,Orphanet:1878 23 23 1.0000 condition_architecture_interpretable 20 0 20 Sarcotubular_myopathy 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARHGEF18 condition_not_provided condition not provided MedGen:C3661900 23 23 1.0000 condition_record_support_limited 20 23 4 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMER1 mondo_mondo_0010310_medgen_c0432268_omim_300373_orphanet_2780 Osteopathia striata with cranial sclerosis MONDO:MONDO:0010310,MedGen:C0432268,OMIM:300373,Orphanet:2780 23 23 1.0000 condition_architecture_interpretable 20 0 5 Osteopathia_striata_with_cranial_sclerosis 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG1 mondo_mondo_0015286_medgen_c0282577_orphanet_137 Congenital disorder of glycosylation MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137 23 23 1.0000 condition_architecture_interpretable 20 0 17 Congenital_disorder_of_glycosylation 120 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH4A1 mondo_mondo_0009401_medgen_c2931835_omim_239510_orphanet_79101 Hyperprolinemia type 2 MONDO:MONDO:0009401,MedGen:C2931835,OMIM:239510,Orphanet:79101 23 23 1.0000 condition_architecture_interpretable 20 0 3 Hyperprolinemia_type_2 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALAS2 mondo_mondo_0020721_medgen_c4551511_omim_300751_orphanet_75563 X-linked sideroblastic anemia 1 MONDO:MONDO:0020721,MedGen:C4551511,OMIM:300751,Orphanet:75563 23 23 1.0000 condition_architecture_interpretable 20 0 4 X-linked_sideroblastic_anemia_1 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTSL4 mondo_mondo_0009152_medgen_c3541474_omim_225100_orphanet_1885 Ectopia lentis 2, isolated, autosomal recessive MONDO:MONDO:0009152,MedGen:C3541474,OMIM:225100,Orphanet:1885 23 23 1.0000 condition_architecture_interpretable 20 0 19 Ectopia_lentis_2,_isolated,_autosomal_recessive 166 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACADVL acadvl_related_disorder ACADVL-related disorder . 23 23 1.0000 condition_architecture_interpretable 20 0 21 ACADVL-related_disorder 513 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB4 mondo_mondo_0010939_medgen_c2609268_omim_600803_orphanet_69663 Low phospholipid associated cholelithiasis MONDO:MONDO:0010939,MedGen:C2609268,OMIM:600803,Orphanet:69663 23 23 1.0000 condition_architecture_interpretable 20 0 21 Low_phospholipid_associated_cholelithiasis 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA4 mondo_mondo_0010819_medgen_c1838644_omim_600110_orphanet_827 Stargardt disease 3 MONDO:MONDO:0010819,MedGen:C1838644,OMIM:600110,Orphanet:827 23 23 1.0000 condition_architecture_interpretable 20 0 20 Stargardt_disease_3 1464 large_gene_or_donor_burden_stress_case donor_burden_stress AARS2 mondo_mondo_0013570_medgen_c4518839_omim_614096_orphanet_319504 Combined oxidative phosphorylation defect type 8 MONDO:MONDO:0013570,MedGen:C4518839,OMIM:614096,Orphanet:319504 23 23 1.0000 condition_architecture_interpretable 20 0 9 Combined_oxidative_phosphorylation_defect_type_8 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF462 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 22 22 1.0000 condition_record_support_limited 20 22 5 not_provided|not_specified 84 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture WDR81 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 22 22 1.0000 condition_record_support_limited 20 22 7 not_provided|not_specified 36 compact_adjacent_exon_block_opportunity local_compact_architecture VPS33B mondo_mondo_0859278_medgen_c5774200_omim_620009 Keratoderma-ichthyosis-deafness syndrome, autosomal recessive MONDO:MONDO:0859278,MedGen:C5774200,OMIM:620009 22 22 1.0000 condition_architecture_interpretable 20 0 21 Keratoderma-ichthyosis-deafness_syndrome,_autosomal_recessive 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VPS13B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 22 22 1.0000 condition_architecture_interpretable 20 0 18 Inborn_genetic_diseases 996 large_gene_or_donor_burden_stress_case donor_burden_stress UROD mondo_mondo_0008296_medgen_c0268323_omim_176100_orphanet_101330_orphanet_443062 Familial porphyria cutanea tarda MONDO:MONDO:0008296,MedGen:C0268323,OMIM:176100,Orphanet:101330,Orphanet:443062 22 22 1.0000 condition_architecture_interpretable 20 0 12 Familial_porphyria_cutanea_tarda 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UPF3B mondo_mondo_0010398_medgen_c1970822_omim_300676_orphanet_776 Syndromic X-linked intellectual disability 14 MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676,Orphanet:776 22 22 1.0000 condition_architecture_interpretable 20 0 6 Syndromic_X-linked_intellectual_disability_14 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UNG mondo_mondo_0011971_medgen_c1720958_omim_608106_orphanet_101092 Hyper-IgM syndrome type 5 MONDO:MONDO:0011971,MedGen:C1720958,OMIM:608106,Orphanet:101092 22 22 1.0000 condition_architecture_interpretable 20 0 0 Hyper-IgM_syndrome_type_5 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A9 medgen_c1866173_omim_601816 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 MedGen:C1866173,OMIM:601816 22 22 1.0000 condition_architecture_interpretable 20 0 22 BILIRUBIN,_SERUM_LEVEL_OF,_QUANTITATIVE_TRAIT_LOCUS_1 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A8 medgen_c1866173_omim_601816 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 MedGen:C1866173,OMIM:601816 22 22 1.0000 condition_architecture_interpretable 20 0 22 BILIRUBIN,_SERUM_LEVEL_OF,_QUANTITATIVE_TRAIT_LOCUS_1 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A7 medgen_c1866173_omim_601816 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 MedGen:C1866173,OMIM:601816 22 22 1.0000 condition_architecture_interpretable 20 0 22 BILIRUBIN,_SERUM_LEVEL_OF,_QUANTITATIVE_TRAIT_LOCUS_1 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A6 medgen_c1866173_omim_601816 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 MedGen:C1866173,OMIM:601816 22 22 1.0000 condition_architecture_interpretable 20 0 22 BILIRUBIN,_SERUM_LEVEL_OF,_QUANTITATIVE_TRAIT_LOCUS_1 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A5 medgen_c1866173_omim_601816 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 MedGen:C1866173,OMIM:601816 22 22 1.0000 condition_architecture_interpretable 20 0 22 BILIRUBIN,_SERUM_LEVEL_OF,_QUANTITATIVE_TRAIT_LOCUS_1 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A4 medgen_c1866173_omim_601816 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 MedGen:C1866173,OMIM:601816 22 22 1.0000 condition_architecture_interpretable 20 0 22 BILIRUBIN,_SERUM_LEVEL_OF,_QUANTITATIVE_TRAIT_LOCUS_1 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A3 medgen_c1866173_omim_601816 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 MedGen:C1866173,OMIM:601816 22 22 1.0000 condition_architecture_interpretable 20 0 22 BILIRUBIN,_SERUM_LEVEL_OF,_QUANTITATIVE_TRAIT_LOCUS_1 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A10 medgen_c1866173_omim_601816 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 MedGen:C1866173,OMIM:601816 22 22 1.0000 condition_architecture_interpretable 20 0 22 BILIRUBIN,_SERUM_LEVEL_OF,_QUANTITATIVE_TRAIT_LOCUS_1 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A1 medgen_c1866173_omim_601816 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 MedGen:C1866173,OMIM:601816 22 22 1.0000 condition_architecture_interpretable 20 0 22 BILIRUBIN,_SERUM_LEVEL_OF,_QUANTITATIVE_TRAIT_LOCUS_1 80 compact_adjacent_exon_block_opportunity local_compact_architecture UGDH human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 22 22 1.0000 condition_architecture_interpretable 20 0 7 Epileptic_encephalopathy 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TYRP1 mondo_mondo_0008747_medgen_c0342683_omim_203290_orphanet_79433 Oculocutaneous albinism type 3 MONDO:MONDO:0008747,MedGen:C0342683,OMIM:203290,Orphanet:79433 22 22 1.0000 condition_architecture_interpretable 20 0 20 Oculocutaneous_albinism_type_3 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TULP1 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 22 22 1.0000 condition_architecture_interpretable 20 0 16 Leber_congenital_amaurosis 151 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 22 22 1.0000 condition_record_support_limited 20 22 8 not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 mondo_mondo_0007986_medgen_c0265281_omim_156530_orphanet_2635 Metatropic dysplasia MONDO:MONDO:0007986,MedGen:C0265281,OMIM:156530,Orphanet:2635 22 22 1.0000 condition_architecture_interpretable 20 0 15 Metatropic_dysplasia 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP53 mondo_mondo_0032573_medgen_c4748488_omim_618165 Bone marrow failure syndrome 5 MONDO:MONDO:0032573,MedGen:C4748488,OMIM:618165 22 22 1.0000 condition_architecture_interpretable 20 0 22 Bone_marrow_failure_syndrome_5 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TNXB cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 22 22 1.0000 condition_architecture_interpretable 20 0 12 Cardiovascular_phenotype 142 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TNNI3 mondo_mondo_0013369_medgen_c1860752_omim_613690 Hypertrophic cardiomyopathy 7 MONDO:MONDO:0013369,MedGen:C1860752,OMIM:613690 22 22 1.0000 condition_architecture_interpretable 20 0 17 Hypertrophic_cardiomyopathy_7 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNFAIP3 mondo_mondo_0800045_medgen_c4225218_omim_616744_orphanet_674762 Autoinflammatory syndrome, familial, Behcet-like 1 MONDO:MONDO:0800045,MedGen:C4225218,OMIM:616744,Orphanet:674762 22 22 1.0000 condition_architecture_interpretable 20 0 7 Autoinflammatory_syndrome,_familial,_Behcet-like_1 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM216 mondo_mondo_0011296_medgen_c1864148_omim_603194_orphanet_564 Meckel syndrome, type 2 MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194,Orphanet:564 22 22 1.0000 condition_architecture_interpretable 20 0 20 Meckel_syndrome,_type_2 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCAP mondo_mondo_0011843_medgen_c4225408_omim_607487 Hypertrophic cardiomyopathy 25 MONDO:MONDO:0011843,MedGen:C4225408,OMIM:607487 22 22 1.0000 condition_architecture_interpretable 20 0 20 Hypertrophic_cardiomyopathy_25 35 compact_adjacent_exon_block_opportunity local_compact_architecture TBX4 mondo_mondo_0007841_medgen_c1840061_omim_147891_orphanet_1509 Coxopodopatellar syndrome MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509 22 22 1.0000 condition_architecture_interpretable 20 0 12 Coxopodopatellar_syndrome 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNE1 mondo_mondo_0032778_medgen_c5193121_omim_618484 Arthrogryposis multiplex congenita 3, myogenic type MONDO:MONDO:0032778,MedGen:C5193121,OMIM:618484 22 22 1.0000 condition_architecture_interpretable 20 0 16 Arthrogryposis_multiplex_congenita_3,_myogenic_type 379 large_gene_or_donor_burden_stress_case donor_burden_stress STAG1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 22 22 1.0000 condition_record_support_limited 20 22 5 See_cases|not_provided 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 22 22 1.0000 condition_record_support_limited 20 22 7 not_provided 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCNN1A mondo_mondo_0009917_medgen_c5774176_omim_264350_orphanet_171876_orphanet_756 Pseudohypoaldosteronism, type IB1, autosomal recessive MONDO:MONDO:0009917,MedGen:C5774176,OMIM:264350,Orphanet:171876,Orphanet:756 22 22 1.0000 condition_architecture_interpretable 20 0 13 Pseudohypoaldosteronism,_type_IB1,_autosomal_recessive 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN5A efo_the_experimental_factor_ontology_efo_0005303_mesh_d013398_medgen_c0038644_omim_272120 SUDDEN INFANT DEATH SYNDROME EFO:_The_Experimental_Factor_Ontology:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120 22 22 1.0000 condition_architecture_interpretable 20 0 22 SUDDEN_INFANT_DEATH_SYNDROME 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A mondo_mondo_0018097_medgen_c0037769_orphanet_3451_orphanet_697160 West syndrome MONDO:MONDO:0018097,MedGen:C0037769,Orphanet:3451,Orphanet:697160 22 22 1.0000 condition_architecture_interpretable 20 0 17 West_syndrome 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCAPER mondo_mondo_0032594_medgen_c4748658_omim_618195 Intellectual developmental disorder and retinitis pigmentosa; IDDRP MONDO:MONDO:0032594,MedGen:C4748658,OMIM:618195 22 22 1.0000 condition_architecture_interpretable 20 0 7 Intellectual_developmental_disorder_and_retinitis_pigmentosa%3B_IDDRP 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 22 22 1.0000 condition_architecture_interpretable 20 0 17 Leber_congenital_amaurosis 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ROR2 mondo_mondo_0007220_medgen_c1862112_omim_113000_orphanet_572385_orphanet_93383 Brachydactyly type B1 MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000,Orphanet:572385,Orphanet:93383 22 22 1.0000 condition_architecture_interpretable 20 0 16 Brachydactyly_type_B1 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNU4ATAC condition_not_provided condition not provided MedGen:C3661900 22 22 1.0000 condition_record_support_limited 20 22 18 not_provided 28 single_exon_hotspot_opportunity local_compact_architecture RET mondo_mondo_0008082_mesh_d018814_medgen_c0025269_omim_162300_orphanet_247709_orphanet_653 Multiple endocrine neoplasia type 2B MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300,Orphanet:247709,Orphanet:653 22 22 1.0000 condition_architecture_interpretable 20 0 20 Multiple_endocrine_neoplasia_type_2B 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB23 mondo_mondo_0008710_medgen_c4551510_omim_201000_orphanet_65759 RAB23-related Carpenter syndrome MONDO:MONDO:0008710,MedGen:C4551510,OMIM:201000,Orphanet:65759 22 22 1.0000 condition_architecture_interpretable 20 0 6 RAB23-related_Carpenter_syndrome 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB23 mondo_mondo_0019012_medgen_c1275078_omim_ps201000_orphanet_65759 Carpenter syndrome MONDO:MONDO:0019012,MedGen:C1275078,OMIM:PS201000,Orphanet:65759 22 22 1.0000 condition_architecture_interpretable 20 0 6 Carpenter_syndrome 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PXDN mondo_mondo_0010015_medgen_c3151617_omim_269400_orphanet_289499 Anterior segment dysgenesis 7 MONDO:MONDO:0010015,MedGen:C3151617,OMIM:269400,Orphanet:289499 22 22 1.0000 condition_architecture_interpretable 20 0 1 Anterior_segment_dysgenesis_7 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PURA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 22 22 1.0000 condition_architecture_interpretable 20 0 6 Inborn_genetic_diseases 218 single_exon_hotspot_opportunity local_compact_architecture PRR12 mondo_mondo_0859193_medgen_c5551362_omim_ps619539 Neuroocular syndrome MONDO:MONDO:0859193,MedGen:C5551362,OMIM:PS619539 22 22 1.0000 condition_architecture_interpretable 20 0 7 Neuroocular_syndrome 74 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PPP2CA condition_not_provided condition not provided MedGen:C3661900 22 22 1.0000 condition_record_support_limited 20 22 4 not_provided 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POU1F1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 22 22 1.0000 condition_record_support_limited 20 22 9 not_provided|not_specified 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMK mondo_mondo_0014489_medgen_c4015184_omim_616094_orphanet_445110 Limb-girdle muscular dystrophy due to POMK deficiency MONDO:MONDO:0014489,MedGen:C4015184,OMIM:616094,Orphanet:445110 22 22 1.0000 condition_architecture_interpretable 20 0 22 Limb-girdle_muscular_dystrophy_due_to_POMK_deficiency 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLGARF condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 22 22 1.0000 condition_record_support_limited 20 22 11 not_provided 61 compact_adjacent_exon_block_opportunity local_compact_architecture PLOD2 condition_not_provided condition not provided MedGen:C3661900 22 22 1.0000 condition_record_support_limited 20 22 5 not_provided 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD1 condition_not_provided condition not provided MedGen:C3661900 22 22 1.0000 condition_record_support_limited 20 22 18 not_provided 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLCB1 mondo_mondo_0013389_medgen_c3150988_omim_613722 Developmental and epileptic encephalopathy, 12 MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722 22 22 1.0000 condition_architecture_interpretable 20 0 1 Developmental_and_epileptic_encephalopathy,_12 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKHD1 human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Autosomal dominant polycystic liver disease Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 22 22 1.0000 condition_architecture_interpretable 20 0 15 Autosomal_dominant_polycystic_liver_disease 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PIGA mondo_mondo_0010466_medgen_c3275508_omim_300868_orphanet_300496 Multiple congenital anomalies-hypotonia-seizures syndrome 2 MONDO:MONDO:0010466,MedGen:C3275508,OMIM:300868,Orphanet:300496 22 22 1.0000 condition_architecture_interpretable 20 0 8 Multiple_congenital_anomalies-hypotonia-seizures_syndrome_2 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PI4KA mondo_mondo_0014679_medgen_c4225295_omim_616531 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:MONDO:0014679,MedGen:C4225295,OMIM:616531 22 22 1.0000 condition_architecture_interpretable 20 0 6 Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis 42 large_gene_or_donor_burden_stress_case donor_burden_stress PHF21A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 22 22 1.0000 condition_record_support_limited 20 22 8 not_provided 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF21A mondo_mondo_0032883_medgen_c5231476_omim_618725 Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures MONDO:MONDO:0032883,MedGen:C5231476,OMIM:618725 22 22 1.0000 condition_architecture_interpretable 20 0 6 Intellectual_developmental_disorder_with_behavioral_abnormalities_and_craniofacial_dysmorphism_with_or_without_seizures 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX2 mondo_mondo_0013933_medgen_c3542026_omim_614867_orphanet_44 Peroxisome biogenesis disorder 5B MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867,Orphanet:44 22 22 1.0000 condition_architecture_interpretable 20 0 21 Peroxisome_biogenesis_disorder_5B 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTOF mondo_mondo_0021944_medgen_c1852271_omim_ps609129 Auditory neuropathy MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 22 22 1.0000 condition_architecture_interpretable 20 0 5 Auditory_neuropathy 355 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NSD2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 22 22 1.0000 condition_record_support_limited 20 22 5 not_provided 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR5A1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 22 22 1.0000 condition_record_support_limited 20 22 8 See_cases|not_provided 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEFL condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 22 22 1.0000 condition_record_support_limited 20 22 20 not_provided 51 compact_adjacent_exon_block_opportunity local_compact_architecture NDE1 mondo_mondo_0007568_medgen_c1851504_omim_132900 Aortic aneurysm, familial thoracic 4 MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900 22 22 1.0000 condition_architecture_interpretable 20 0 3 Aortic_aneurysm,_familial_thoracic_4 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAA10 mondo_mondo_0010457_medgen_c3275447_omim_300855_orphanet_276432 Ogden syndrome MONDO:MONDO:0010457,MedGen:C3275447,OMIM:300855,Orphanet:276432 22 22 1.0000 condition_architecture_interpretable 20 0 11 Ogden_syndrome 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTMR10 mondo_mondo_0013898_medgen_c3553774_omim_614817_orphanet_401996 Karyomegalic interstitial nephritis MONDO:MONDO:0013898,MedGen:C3553774,OMIM:614817,Orphanet:401996 22 22 1.0000 condition_architecture_interpretable 20 0 4 Karyomegalic_interstitial_nephritis 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSH6 mondo_mondo_0060760_medgen_c4748135_omim_618089 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities MONDO:MONDO:0060760,MedGen:C4748135,OMIM:618089 22 22 1.0000 condition_architecture_interpretable 20 0 7 Intellectual_developmental_disorder_with_dysmorphic_facies_and_behavioral_abnormalities 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MED23 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 22 22 1.0000 condition_record_support_limited 20 22 12 not_provided 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCOLN1 mondo_mondo_0010425_medgen_c2749050_omim_620763_orphanet_98955 Lisch epithelial corneal dystrophy MONDO:MONDO:0010425,MedGen:C2749050,OMIM:620763,Orphanet:98955 22 22 1.0000 condition_architecture_interpretable 20 0 22 Lisch_epithelial_corneal_dystrophy 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LTBP4 mondo_mondo_0013170_medgen_c2750804_omim_613177_orphanet_221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies MONDO:MONDO:0013170,MedGen:C2750804,OMIM:613177,Orphanet:221145 22 22 1.0000 condition_architecture_interpretable 20 0 4 Cutis_laxa_with_severe_pulmonary,_gastrointestinal_and_urinary_anomalies 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRRC37A2 mondo_mondo_0020074_medgen_c0751778_omim_ps254800_orphanet_308_orphanet_98261 Progressive myoclonic epilepsy MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261 22 22 1.0000 condition_architecture_interpretable 20 0 6 Progressive_myoclonic_epilepsy 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP5 mondo_mondo_0011877_medgen_c1843330_omim_607634_orphanet_2783 Autosomal dominant osteopetrosis 1 MONDO:MONDO:0011877,MedGen:C1843330,OMIM:607634,Orphanet:2783 22 22 1.0000 condition_architecture_interpretable 20 0 20 Autosomal_dominant_osteopetrosis_1 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LDLR human_phenotype_ontology_hp_0003124_human_phenotype_ontology_hp_0008154_human_phenotype_ontology_hp_0008173_human_phenotype_ontology_hp_0008359_mesh_d006937_medgen_c0020443 Hypercholesterolemia Human_Phenotype_Ontology:HP:0003124,Human_Phenotype_Ontology:HP:0008154,Human_Phenotype_Ontology:HP:0008173,Human_Phenotype_Ontology:HP:0008359,MeSH:D006937,MedGen:C0020443 22 22 1.0000 condition_architecture_interpretable 20 0 21 Hypercholesterolemia 1933 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRT6A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 22 22 1.0000 condition_record_support_limited 20 22 13 not_provided 29 compact_adjacent_exon_block_opportunity local_compact_architecture KRT5 mondo_mondo_0017610_medgen_c0079298_omim_ps131760_orphanet_304 Epidermolysis bullosa simplex MONDO:MONDO:0017610,MedGen:C0079298,OMIM:PS131760,Orphanet:304 22 22 1.0000 condition_architecture_interpretable 20 0 18 Epidermolysis_bullosa_simplex 96 compact_adjacent_exon_block_opportunity local_compact_architecture KIF14 mondo_mondo_0054761_medgen_c4693572_omim_617914 Microcephaly 20, primary, autosomal recessive MONDO:MONDO:0054761,MedGen:C4693572,OMIM:617914 22 22 1.0000 condition_architecture_interpretable 20 0 12 Microcephaly_20,_primary,_autosomal_recessive 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM5C mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 22 22 1.0000 condition_architecture_interpretable 20 0 10 Inborn_genetic_diseases 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNV2 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 22 22 1.0000 condition_architecture_interpretable 20 0 10 Retinal_dystrophy 80 compact_adjacent_exon_block_opportunity local_compact_architecture KCNV2 mondo_mondo_0012475_medgen_c1835897_omim_610356_orphanet_209932 Cone dystrophy with supernormal rod response MONDO:MONDO:0012475,MedGen:C1835897,OMIM:610356,Orphanet:209932 22 22 1.0000 condition_architecture_interpretable 20 0 17 Cone_dystrophy_with_supernormal_rod_response 80 compact_adjacent_exon_block_opportunity local_compact_architecture ITPR1 mondo_mondo_0007298_medgen_c1861732_omim_117360_orphanet_208513 Spinocerebellar ataxia type 29 MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360,Orphanet:208513 22 22 1.0000 condition_architecture_interpretable 20 0 11 Spinocerebellar_ataxia_type_29 85 large_gene_or_donor_burden_stress_case donor_burden_stress IMPG2 mondo_mondo_0013314_medgen_c3150819_omim_613581_orphanet_791 Retinitis pigmentosa 56 MONDO:MONDO:0013314,MedGen:C3150819,OMIM:613581,Orphanet:791 22 22 1.0000 condition_architecture_interpretable 20 0 13 Retinitis_pigmentosa_56 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPDH1 condition_not_provided condition not provided MedGen:C3661900 22 22 1.0000 condition_record_support_limited 20 22 4 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IHH human_phenotype_ontology_hp_0009371_mondo_mondo_0007215_medgen_c1862151_omim_112500_orphanet_93388 Brachydactyly type A1 Human_Phenotype_Ontology:HP:0009371,MONDO:MONDO:0007215,MedGen:C1862151,OMIM:112500,Orphanet:93388 22 22 1.0000 condition_architecture_interpretable 20 0 9 Brachydactyly_type_A1 48 compact_adjacent_exon_block_opportunity local_compact_architecture IFT80 mondo_mondo_0012644_medgen_c1970005_omim_611263_orphanet_474 Asphyxiating thoracic dystrophy 2 MONDO:MONDO:0012644,MedGen:C1970005,OMIM:611263,Orphanet:474 22 22 1.0000 condition_architecture_interpretable 20 0 8 Asphyxiating_thoracic_dystrophy_2 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT140 human_phenotype_ontology_hp_0000088_human_phenotype_ontology_hp_0000107_human_phenotype_ontology_hp_0000109_mondo_mondo_0002473_medgen_c3887499 Renal cyst Human_Phenotype_Ontology:HP:0000088,Human_Phenotype_Ontology:HP:0000107,Human_Phenotype_Ontology:HP:0000109,MONDO:MONDO:0002473,MedGen:C3887499 22 22 1.0000 condition_architecture_interpretable 20 0 15 Renal_cyst 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFNAR1 condition_not_provided condition not provided MedGen:C3661900 22 22 1.0000 condition_record_support_limited 20 22 3 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HTRA1 condition_not_provided condition not provided MedGen:C3661900 22 22 1.0000 condition_record_support_limited 20 22 14 not_provided 40 compact_adjacent_exon_block_opportunity local_compact_architecture HSPB1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 22 22 1.0000 condition_record_support_limited 20 22 17 not_provided|not_specified 39 compact_adjacent_exon_block_opportunity local_compact_architecture HPRT1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 22 22 1.0000 condition_record_support_limited 20 22 8 not_provided 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF1A human_phenotype_ontology_hp_0100651_mondo_mondo_0005147_medgen_c0011854_omim_222100 Diabetes mellitus type 1 Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100 22 22 1.0000 condition_architecture_interpretable 20 0 22 Diabetes_mellitus_type_1 384 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HINT1 mondo_mondo_0007646_medgen_c5700127_omim_137200_orphanet_324442 Autosomal recessive axonal neuropathy with neuromyotonia MONDO:MONDO:0007646,MedGen:C5700127,OMIM:137200,Orphanet:324442 22 22 1.0000 condition_architecture_interpretable 20 0 6 Autosomal_recessive_axonal_neuropathy_with_neuromyotonia 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HBB hbb_related_disorder HBB-related disorder MedGen:CN239378 22 22 1.0000 condition_architecture_interpretable 20 0 22 HBB-related_disorder 428 compact_adjacent_exon_block_opportunity local_compact_architecture GOSR2 mondo_mondo_0020074_medgen_c0751778_omim_ps254800_orphanet_308_orphanet_98261 Progressive myoclonic epilepsy MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261 22 22 1.0000 condition_architecture_interpretable 20 0 6 Progressive_myoclonic_epilepsy 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLRA1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 22 22 1.0000 condition_record_support_limited 20 22 12 not_provided 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLB1 glb1_related_disorder GLB1-related disorder MedGen:CN377807 22 22 1.0000 condition_architecture_interpretable 20 0 20 GLB1-related_disorder 322 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLA migalastat_response Migalastat response MedGen:CN233149 22 22 1.0000 condition_architecture_interpretable 20 0 22 Migalastat_response 1115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GHRHR condition_not_provided condition not provided MedGen:C3661900 22 22 1.0000 condition_record_support_limited 20 22 10 not_provided 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GHRHR mondo_mondo_0032567_medgen_c4722273_omim_618157_orphanet_684247 Isolated growth hormone deficiency, type 4 MONDO:MONDO:0032567,MedGen:C4722273,OMIM:618157,Orphanet:684247 22 22 1.0000 condition_architecture_interpretable 20 0 10 Isolated_growth_hormone_deficiency,_type_4 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDAP1 mondo_mondo_0011898_medgen_c1843183_omim_607706_orphanet_101097 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive MONDO:MONDO:0011898,MedGen:C1843183,OMIM:607706,Orphanet:101097 22 22 1.0000 condition_architecture_interpretable 20 0 22 Charcot-Marie-Tooth_disease,_axonal,_with_vocal_cord_paresis,_autosomal_recessive 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRA1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 22 22 1.0000 condition_record_support_limited 20 22 8 not_provided 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FTL mondo_mondo_0010952_medgen_c1833213_omim_600886_orphanet_163 Hereditary hyperferritinemia with congenital cataracts MONDO:MONDO:0010952,MedGen:C1833213,OMIM:600886,Orphanet:163 22 22 1.0000 condition_architecture_interpretable 20 0 17 Hereditary_hyperferritinemia_with_congenital_cataracts 31 compact_adjacent_exon_block_opportunity local_compact_architecture FGFR3 mondo_mondo_0008546_medgen_c1868678_omim_187600_orphanet_1860_orphanet_2655 Thanatophoric dysplasia type 1 MONDO:MONDO:0008546,MedGen:C1868678,OMIM:187600,Orphanet:1860,Orphanet:2655 22 22 1.0000 condition_architecture_interpretable 20 0 21 Thanatophoric_dysplasia_type_1 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBN1 thoracic_aortic_aneurysm_or_dissection Thoracic aortic aneurysm or dissection . 22 22 1.0000 condition_architecture_interpretable 20 0 15 Thoracic_aortic_aneurysm_or_dissection 3554 large_gene_or_donor_burden_stress_case donor_burden_stress ELP1 medgen_c5670652 ELP1-Associated Medulloblastoma MedGen:C5670652 22 22 1.0000 condition_architecture_interpretable 20 0 20 ELP1-Associated_Medulloblastoma 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2B4 condition_not_provided condition not provided MedGen:C3661900 22 22 1.0000 condition_record_support_limited 20 22 2 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EARS2 condition_not_provided condition not provided MedGen:C3661900 22 22 1.0000 condition_record_support_limited 20 22 7 not_provided 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNHD1 mondo_mondo_0030531_medgen_c5562067_omim_619712 Spermatogenic failure 65 MONDO:MONDO:0030531,MedGen:C5562067,OMIM:619712 22 22 1.0000 condition_architecture_interpretable 20 0 3 Spermatogenic_failure_65 45 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DMD human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 22 22 1.0000 condition_architecture_interpretable 20 0 11 Abnormality_of_the_musculature 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DLG3 mondo_mondo_0010452_medgen_c3275443_omim_300850_orphanet_777 Intellectual disability, X-linked 90 MONDO:MONDO:0010452,MedGen:C3275443,OMIM:300850,Orphanet:777 22 22 1.0000 condition_architecture_interpretable 20 0 5 Intellectual_disability,_X-linked_90 40 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture DCC mondo_mondo_0008002_medgen_c1834870_omim_157600_orphanet_238722 Mirror movements 1 MONDO:MONDO:0008002,MedGen:C1834870,OMIM:157600,Orphanet:238722 22 22 1.0000 condition_architecture_interpretable 20 0 7 Mirror_movements_1 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DBT condition_not_provided condition not provided MedGen:C3661900 22 22 1.0000 condition_record_support_limited 20 22 17 not_provided 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP7B1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 22 22 1.0000 condition_record_support_limited 20 22 17 not_provided 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP27A1 cyp27a1_related_disorder CYP27A1-related disorder . 22 22 1.0000 condition_architecture_interpretable 20 0 21 CYP27A1-related_disorder 214 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSF mondo_mondo_0014147_medgen_c3715049_omim_615362_orphanet_352709_orphanet_79262 Neuronal ceroid lipofuscinosis 13 MONDO:MONDO:0014147,MedGen:C3715049,OMIM:615362,Orphanet:352709,Orphanet:79262 22 22 1.0000 condition_architecture_interpretable 20 0 2 Neuronal_ceroid_lipofuscinosis_13 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSF2RA mondo_mondo_0010424_medgen_c2677877_omim_300770_orphanet_264675 Surfactant metabolism dysfunction, pulmonary, 4 MONDO:MONDO:0010424,MedGen:C2677877,OMIM:300770,Orphanet:264675 22 22 1.0000 condition_architecture_interpretable 20 0 2 Surfactant_metabolism_dysfunction,_pulmonary,_4 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CREBBP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 22 22 1.0000 condition_architecture_interpretable 20 0 8 Inborn_genetic_diseases 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL2A1 human_phenotype_ontology_hp_0003280_human_phenotype_ontology_hp_0005743_human_phenotype_ontology_hp_0006448_human_phenotype_ontology_hp_0010887_mondo_mondo_0007885_medgen_c1442965_omim_150600_orphanet_2380 Legg-Calve-Perthes disease Human_Phenotype_Ontology:HP:0003280,Human_Phenotype_Ontology:HP:0005743,Human_Phenotype_Ontology:HP:0006448,Human_Phenotype_Ontology:HP:0010887,MONDO:MONDO:0007885,MedGen:C1442965,OMIM:150600,Orphanet:2380 22 22 1.0000 condition_architecture_interpretable 20 0 22 Legg-Calve-Perthes_disease 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A1 col11a1_related_disorder COL11A1-related disorder . 22 22 1.0000 condition_architecture_interpretable 20 0 8 COL11A1-related_disorder 248 large_gene_or_donor_burden_stress_case donor_burden_stress COG6 mondo_mondo_0013810_medgen_c3553230_omim_614576_orphanet_464443 COG6-congenital disorder of glycosylation MONDO:MONDO:0013810,MedGen:C3553230,OMIM:614576,Orphanet:464443 22 22 1.0000 condition_architecture_interpretable 20 0 12 COG6-congenital_disorder_of_glycosylation 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNTN1 mondo_mondo_0012929_medgen_c2675527_omim_612540_orphanet_210163 Compton-North congenital myopathy MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540,Orphanet:210163 22 22 1.0000 condition_architecture_interpretable 20 0 0 Compton-North_congenital_myopathy 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNKSR2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 22 22 1.0000 condition_record_support_limited 20 22 3 not_provided 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGB3 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 22 22 1.0000 condition_architecture_interpretable 20 0 18 Retinal_dystrophy 271 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLASP1 condition_not_provided condition not provided MedGen:C3661900 22 22 1.0000 condition_record_support_limited 20 22 18 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFI mondo_mondo_0014189_medgen_c3809523_omim_615439 Age related macular degeneration 13 MONDO:MONDO:0014189,MedGen:C3809523,OMIM:615439 22 22 1.0000 condition_architecture_interpretable 20 0 20 Age_related_macular_degeneration_13 124 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CARD9 mondo_mondo_0008905_medgen_c1859353_omim_212050_orphanet_457088 Predisposition to invasive fungal disease due to CARD9 deficiency MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050,Orphanet:457088 22 22 1.0000 condition_architecture_interpretable 20 0 0 Predisposition_to_invasive_fungal_disease_due_to_CARD9_deficiency 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNA1F human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Congenital stationary night blindness Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 22 22 1.0000 condition_architecture_interpretable 20 0 9 Congenital_stationary_night_blindness 189 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture C12ORF57 mondo_mondo_0009033_medgen_c1857512_omim_218340_orphanet_1777 Temtamy syndrome MONDO:MONDO:0009033,MedGen:C1857512,OMIM:218340,Orphanet:1777 22 22 1.0000 condition_architecture_interpretable 20 0 6 Temtamy_syndrome 27 compact_adjacent_exon_block_opportunity local_compact_architecture C11ORF65 mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 22 22 1.0000 condition_architecture_interpretable 20 0 20 Malignant_tumor_of_breast 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAT1 mondo_mondo_0020841_medgen_c4748032_omim_618056 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures MONDO:MONDO:0020841,MedGen:C4748032,OMIM:618056 22 22 1.0000 condition_architecture_interpretable 20 0 13 Neurodevelopmental_disorder_with_cerebellar_atrophy_and_with_or_without_seizures 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS1 bbs1_related_disorder BBS1-related disorder . 22 22 1.0000 condition_architecture_interpretable 20 0 19 BBS1-related_disorder 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BARD1 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 22 22 1.0000 condition_architecture_interpretable 20 0 18 Hereditary_breast_ovarian_cancer_syndrome 610 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BARD1 mondo_mondo_0700267_medgen_cn377756 BARD1-related cancer predisposition MONDO:MONDO:0700267,MedGen:CN377756 22 22 1.0000 condition_architecture_interpretable 20 0 19 BARD1-related_cancer_predisposition 610 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP8A2 condition_not_provided condition not provided MedGen:C3661900 22 22 1.0000 condition_record_support_limited 20 22 6 not_provided 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 mondo_mondo_0030473_medgen_c5562018_omim_619606 Developmental and epileptic encephalopathy 99 MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606 22 22 1.0000 condition_architecture_interpretable 20 0 13 Developmental_and_epileptic_encephalopathy_99 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 mondo_mondo_0011038_medgen_c1832466_omim_601338_orphanet_1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171 22 22 1.0000 condition_architecture_interpretable 20 0 18 Cerebellar_ataxia-areflexia-pes_cavus-optic_atrophy-sensorineural_hearing_loss_syndrome 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATM mondo_mondo_0018604_medgen_c3896578_orphanet_440437 Familial colorectal cancer type X MONDO:MONDO:0018604,MedGen:C3896578,Orphanet:440437 22 22 1.0000 condition_architecture_interpretable 20 0 20 Familial_colorectal_cancer_type_X 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control AIPL1 mondo_mondo_0100438_medgen_cn305590 AIPL1-related retinopathy MONDO:MONDO:0100438,MedGen:CN305590 22 22 1.0000 condition_architecture_interpretable 20 0 18 AIPL1-related_retinopathy 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACAT1 condition_not_provided condition not provided MedGen:C3661900 22 22 1.0000 condition_record_support_limited 20 22 20 not_provided 212 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA1 mondo_mondo_0008783_medgen_c0039292_omim_205400_orphanet_31150 Tangier disease MONDO:MONDO:0008783,MedGen:C0039292,OMIM:205400,Orphanet:31150 22 22 1.0000 condition_architecture_interpretable 20 0 7 Tangier_disease 76 large_gene_or_donor_burden_stress_case donor_burden_stress ZNF341 condition_not_provided condition not provided MedGen:C3661900 21 21 1.0000 condition_record_support_limited 20 21 1 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZFYVE26 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 21 21 1.0000 condition_architecture_interpretable 20 0 16 Leber_congenital_amaurosis 454 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture XPC mondo_mondo_0019600_medgen_c0043346_orphanet_910 Xeroderma pigmentosum MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910 21 21 1.0000 condition_architecture_interpretable 20 0 18 Xeroderma_pigmentosum 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WRN condition_not_provided condition not provided MedGen:C3661900 21 21 1.0000 condition_record_support_limited 20 21 15 not_provided 421 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR19 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 21 21 1.0000 condition_record_support_limited 20 21 14 not_provided 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UROS mondo_mondo_0009902_medgen_c5886774_omim_263700_orphanet_79277 Cutaneous porphyria MONDO:MONDO:0009902,MedGen:C5886774,OMIM:263700,Orphanet:79277 21 21 1.0000 condition_architecture_interpretable 20 0 7 Cutaneous_porphyria 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBR1 mondo_mondo_0009479_medgen_c0175692_omim_243800_orphanet_2315 Johanson-Blizzard syndrome MONDO:MONDO:0009479,MedGen:C0175692,OMIM:243800,Orphanet:2315 21 21 1.0000 condition_architecture_interpretable 20 0 5 Johanson-Blizzard_syndrome 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TUBB4A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 21 21 1.0000 condition_record_support_limited 20 21 16 not_provided 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTPA ataxia_with_isolated_vitamin_e_deficiency Ataxia with isolated vitamin E deficiency . 21 21 1.0000 condition_architecture_interpretable 20 0 15 Ataxia_with_isolated_vitamin_E_deficiency 91 compact_adjacent_exon_block_opportunity local_compact_architecture TRIO mondo_mondo_0032939_medgen_c5394205_omim_618825 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MONDO:MONDO:0032939,MedGen:C5394205,OMIM:618825 21 21 1.0000 condition_architecture_interpretable 20 0 14 Intellectual_developmental_disorder,_autosomal_dominant_63,_with_macrocephaly 175 large_gene_or_donor_burden_stress_case donor_burden_stress TRIO mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 21 21 1.0000 condition_architecture_interpretable 20 0 8 Inborn_genetic_diseases 175 large_gene_or_donor_burden_stress_case donor_burden_stress TRIM32 mondo_mondo_0014439_medgen_c1859569_omim_615988_orphanet_110 Bardet-Biedl syndrome 11 MONDO:MONDO:0014439,MedGen:C1859569,OMIM:615988,Orphanet:110 21 21 1.0000 condition_architecture_interpretable 20 0 20 Bardet-Biedl_syndrome_11 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM3 mondo_mondo_0009711_medgen_c0546264_orphanet_2020 Congenital myopathy with fiber type disproportion MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020 21 21 1.0000 condition_architecture_interpretable 20 0 20 Congenital_myopathy_with_fiber_type_disproportion 35 compact_adjacent_exon_block_opportunity local_compact_architecture TNNT2 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 21 21 1.0000 condition_architecture_interpretable 20 0 21 Hypertrophic_cardiomyopathy 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNT2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 21 21 1.0000 condition_architecture_interpretable 20 0 20 Cardiovascular_phenotype 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 21 21 1.0000 condition_architecture_interpretable 20 0 17 Joubert_syndrome_and_related_disorders 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TIMM8A mondo_mondo_0010578_medgen_c0796074_omim_304700_orphanet_52368 Deafness dystonia syndrome MONDO:MONDO:0010578,MedGen:C0796074,OMIM:304700,Orphanet:52368 21 21 1.0000 condition_architecture_interpretable 20 0 3 Deafness_dystonia_syndrome 25 compact_adjacent_exon_block_opportunity local_compact_architecture TCAP mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 Primary familial hypertrophic cardiomyopathy MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 21 21 1.0000 condition_architecture_interpretable 20 0 20 Primary_familial_hypertrophic_cardiomyopathy 35 compact_adjacent_exon_block_opportunity local_compact_architecture TBX19 human_phenotype_ontology_hp_0011748_mondo_mondo_0008720_medgen_c0342388_omim_201400_orphanet_199296 Congenital isolated adrenocorticotropic hormone deficiency Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296 21 21 1.0000 condition_architecture_interpretable 20 0 8 Congenital_isolated_adrenocorticotropic_hormone_deficiency 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TARDBP mondo_mondo_0012790_medgen_c2677565_omim_612069_orphanet_275872_orphanet_803 Amyotrophic lateral sclerosis type 10 MONDO:MONDO:0012790,MedGen:C2677565,OMIM:612069,Orphanet:275872,Orphanet:803 21 21 1.0000 condition_architecture_interpretable 20 0 16 Amyotrophic_lateral_sclerosis_type_10 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TANC2 mondo_mondo_0030051_medgen_c5394447_omim_618906 Intellectual developmental disorder with autistic features and language delay, with or without seizures MONDO:MONDO:0030051,MedGen:C5394447,OMIM:618906 21 21 1.0000 condition_architecture_interpretable 20 0 3 Intellectual_developmental_disorder_with_autistic_features_and_language_delay,_with_or_without_seizures 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture STUB1 mondo_mondo_0032526_medgen_c4748158_omim_618093_orphanet_631103 Spinocerebellar ataxia 48 MONDO:MONDO:0032526,MedGen:C4748158,OMIM:618093,Orphanet:631103 21 21 1.0000 condition_architecture_interpretable 20 0 10 Spinocerebellar_ataxia_48 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STRC condition_not_provided condition not provided MedGen:C3661900 21 21 1.0000 condition_record_support_limited 20 21 15 not_provided 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture STRADA mondo_mondo_0012611_medgen_c1970203_omim_611087_orphanet_500533 Polyhydramnios, megalencephaly, and symptomatic epilepsy MONDO:MONDO:0012611,MedGen:C1970203,OMIM:611087,Orphanet:500533 21 21 1.0000 condition_architecture_interpretable 20 0 3 Polyhydramnios,_megalencephaly,_and_symptomatic_epilepsy 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPI1 human_phenotype_ontology_hp_0004432_human_phenotype_ontology_hp_0008328_mondo_mondo_0015977_mesh_d000361_medgen_c0001768_omim_ps601495_orphanet_183669 Agammaglobulinemia Human_Phenotype_Ontology:HP:0004432,Human_Phenotype_Ontology:HP:0008328,MONDO:MONDO:0015977,MeSH:D000361,MedGen:C0001768,OMIM:PS601495,Orphanet:183669 21 21 1.0000 condition_architecture_interpretable 20 0 6 Agammaglobulinemia 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPATA22 condition_not_provided condition not provided MedGen:C3661900 21 21 1.0000 condition_record_support_limited 20 21 17 not_provided 186 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SPART condition_not_provided condition not provided MedGen:C3661900 21 21 1.0000 condition_record_support_limited 20 21 7 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC34A1 mondo_mondo_0012850_medgen_c2676786_omim_612286_orphanet_244305 Hypophosphatemic nephrolithiasis/osteoporosis 1 MONDO:MONDO:0012850,MedGen:C2676786,OMIM:612286,Orphanet:244305 21 21 1.0000 condition_architecture_interpretable 20 0 17 Hypophosphatemic_nephrolithiasis/osteoporosis_1 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A13 mondo_mondo_0016603_medgen_c1863844_orphanet_247585 Citrullinemia type II MONDO:MONDO:0016603,MedGen:C1863844,Orphanet:247585 21 21 1.0000 condition_architecture_interpretable 20 0 21 Citrullinemia_type_II 213 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A6 mondo_mondo_0031068_medgen_c5774227_omim_620068 Charcot-Marie-Tooth disease, axonal, IIa 2II MONDO:MONDO:0031068,MedGen:C5774227,OMIM:620068 21 21 1.0000 condition_architecture_interpretable 20 0 19 Charcot-Marie-Tooth_disease,_axonal,_IIa_2II 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SIGMAR1 mondo_mondo_0011585_medgen_c1854023_omim_605726_orphanet_139552 Autosomal recessive distal spinal muscular atrophy 2 MONDO:MONDO:0011585,MedGen:C1854023,OMIM:605726,Orphanet:139552 21 21 1.0000 condition_architecture_interpretable 20 0 19 Autosomal_recessive_distal_spinal_muscular_atrophy_2 27 compact_adjacent_exon_block_opportunity local_compact_architecture SETD5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 21 21 1.0000 condition_architecture_interpretable 20 0 12 Inborn_genetic_diseases 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETBP1 mondo_mondo_0010010_medgen_c0265227_omim_269150_orphanet_798 Schinzel-Giedion syndrome MONDO:MONDO:0010010,MedGen:C0265227,OMIM:269150,Orphanet:798 21 21 1.0000 condition_architecture_interpretable 20 0 14 Schinzel-Giedion_syndrome 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHA mondo_mondo_0031006_medgen_c5543254_omim_619259 Neurodegeneration with ataxia and late-onset optic atrophy MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259 21 21 1.0000 condition_architecture_interpretable 20 0 21 Neurodegeneration_with_ataxia_and_late-onset_optic_atrophy 320 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SCNN1B mondo_mondo_0859317_medgen_c5774255_omim_620125 Pseudohypoaldosteronism, type IB2, autosomal recessive MONDO:MONDO:0859317,MedGen:C5774255,OMIM:620125 21 21 1.0000 condition_architecture_interpretable 20 0 15 Pseudohypoaldosteronism,_type_IB2,_autosomal_recessive 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SBF2 mondo_mondo_0011475_medgen_c1858278_omim_604563_orphanet_99956 Charcot-Marie-Tooth disease type 4B2 MONDO:MONDO:0011475,MedGen:C1858278,OMIM:604563,Orphanet:99956 21 21 1.0000 condition_architecture_interpretable 20 0 8 Charcot-Marie-Tooth_disease_type_4B2 88 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ROBO1 condition_not_provided condition not provided MedGen:C3661900 21 21 1.0000 condition_record_support_limited 20 21 2 not_provided 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLIG1 mondo_mondo_0014442_medgen_c2673874_omim_615991_orphanet_110 Bardet-Biedl syndrome 14 MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110 21 21 1.0000 condition_architecture_interpretable 20 0 14 Bardet-Biedl_syndrome_14 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RFX6 condition_not_provided condition not provided MedGen:C3661900 21 21 1.0000 condition_record_support_limited 20 21 3 not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RETREG1 condition_not_provided condition not provided MedGen:C3661900 21 21 1.0000 condition_record_support_limited 20 21 6 not_provided 25 compact_adjacent_exon_block_opportunity local_compact_architecture RASGRP1 condition_not_provided condition not provided MedGen:C3661900 21 21 1.0000 condition_record_support_limited 20 21 3 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAF1 mondo_mondo_0012690_medgen_c1969057_omim_611553_orphanet_648 Noonan syndrome 5 MONDO:MONDO:0012690,MedGen:C1969057,OMIM:611553,Orphanet:648 21 21 1.0000 condition_architecture_interpretable 20 0 20 Noonan_syndrome_5 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture QRICH1 condition_not_provided condition not provided MedGen:C3661900 21 21 1.0000 condition_record_support_limited 20 21 9 not_provided 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUS1 mondo_mondo_0000863_medgen_c1838103_omim_ps600462_orphanet_2598 Myopathy, lactic acidosis, and sideroblastic anemia MONDO:MONDO:0000863,MedGen:C1838103,OMIM:PS600462,Orphanet:2598 21 21 1.0000 condition_architecture_interpretable 20 0 6 Myopathy,_lactic_acidosis,_and_sideroblastic_anemia 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTEN human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Ovarian neoplasm Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 21 21 1.0000 condition_architecture_interpretable 20 0 14 Ovarian_neoplasm 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PRR12 mondo_mondo_0971007_medgen_c5925133_omim_619539_orphanet_659904 Neuroocular syndrome 1 MONDO:MONDO:0971007,MedGen:C5925133,OMIM:619539,Orphanet:659904 21 21 1.0000 condition_architecture_interpretable 20 0 6 Neuroocular_syndrome_1 74 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PHF3 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 21 21 1.0000 condition_architecture_interpretable 20 0 16 Retinal_dystrophy 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCSK1 mondo_mondo_0010961_medgen_c1833053_omim_600955_orphanet_71528 Obesity due to prohormone convertase I deficiency MONDO:MONDO:0010961,MedGen:C1833053,OMIM:600955,Orphanet:71528 21 21 1.0000 condition_architecture_interpretable 20 0 3 Obesity_due_to_prohormone_convertase_I_deficiency 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX9 human_phenotype_ontology_hp_0000668_mondo_mondo_0005486_medgen_c0020608_omim_ps106600_orphanet_99798 Hypodontia Human_Phenotype_Ontology:HP:0000668,MONDO:MONDO:0005486,MedGen:C0020608,OMIM:PS106600,Orphanet:99798 21 21 1.0000 condition_architecture_interpretable 20 0 5 Hypodontia 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAK1 mondo_mondo_0032568_medgen_c4748428_omim_618158 Intellectual developmental disorder with macrocephaly, seizures, and speech delay MONDO:MONDO:0032568,MedGen:C4748428,OMIM:618158 21 21 1.0000 condition_architecture_interpretable 20 0 6 Intellectual_developmental_disorder_with_macrocephaly,_seizures,_and_speech_delay 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OXCT1 mondo_mondo_0009492_medgen_c0342792_omim_245050_orphanet_832 Succinyl-CoA acetoacetate transferase deficiency MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832 21 21 1.0000 condition_architecture_interpretable 20 0 3 Succinyl-CoA_acetoacetate_transferase_deficiency 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OSTM1 condition_not_provided condition not provided MedGen:C3661900 21 21 1.0000 condition_record_support_limited 20 21 3 not_provided 27 compact_adjacent_exon_block_opportunity local_compact_architecture NPHP3 nphp3_related_disorder NPHP3-related disorder MedGen:CN379163 21 21 1.0000 condition_architecture_interpretable 20 0 16 NPHP3-related_disorder 161 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NONO mondo_mondo_0010501_medgen_c4225417_omim_300967_orphanet_466791 Syndromic X-linked intellectual disability 34 MONDO:MONDO:0010501,MedGen:C4225417,OMIM:300967,Orphanet:466791 21 21 1.0000 condition_architecture_interpretable 20 0 4 Syndromic_X-linked_intellectual_disability_34 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NLRP7 mondo_mondo_0009273_medgen_c3463897_omim_231090_orphanet_254688_orphanet_99927 Hydatidiform mole, recurrent, 1 MONDO:MONDO:0009273,MedGen:C3463897,OMIM:231090,Orphanet:254688,Orphanet:99927 21 21 1.0000 condition_architecture_interpretable 20 0 2 Hydatidiform_mole,_recurrent,_1 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NKX2-5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 21 21 1.0000 condition_record_support_limited 20 21 8 not_provided 125 compact_adjacent_exon_block_opportunity local_compact_architecture NEK8 mondo_mondo_0014174_medgen_c3809434_omim_615415 Renal-hepatic-pancreatic dysplasia 2 MONDO:MONDO:0014174,MedGen:C3809434,OMIM:615415 21 21 1.0000 condition_architecture_interpretable 20 0 16 Renal-hepatic-pancreatic_dysplasia_2 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYORG mondo_mondo_0032673_medgen_c5193025_omim_618317 Basal ganglia calcification, idiopathic, 7, autosomal recessive MONDO:MONDO:0032673,MedGen:C5193025,OMIM:618317 21 21 1.0000 condition_architecture_interpretable 20 0 2 Basal_ganglia_calcification,_idiopathic,_7,_autosomal_recessive 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYH7 efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 21 21 1.0000 condition_architecture_interpretable 20 0 20 Primary_dilated_cardiomyopathy 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED13L mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 21 21 1.0000 condition_architecture_interpretable 20 0 7 Inborn_genetic_diseases 284 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MAP2K1 mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 21 21 1.0000 condition_architecture_interpretable 20 0 17 RASopathy 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP5 mondo_mondo_0007764_medgen_c0432273_omim_144750_orphanet_2790 Worth disease MONDO:MONDO:0007764,MedGen:C0432273,OMIM:144750,Orphanet:2790 21 21 1.0000 condition_architecture_interpretable 20 0 20 Worth_disease 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP5 mondo_mondo_0044327_medgen_c4693479_omim_617875 Polycystic liver disease 4 with or without kidney cysts MONDO:MONDO:0044327,MedGen:C4693479,OMIM:617875 21 21 1.0000 condition_architecture_interpretable 20 0 20 Polycystic_liver_disease_4_with_or_without_kidney_cysts 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMNA human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 21 21 1.0000 condition_architecture_interpretable 20 0 18 Cardiomyopathy 536 compact_adjacent_exon_block_opportunity local_compact_architecture LHCGR condition_not_provided condition not provided MedGen:C3661900 21 21 1.0000 condition_record_support_limited 20 21 12 not_provided 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INPPL1 condition_not_provided condition not provided MedGen:C3661900 21 21 1.0000 condition_record_support_limited 20 21 4 not_provided 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INPP5E mondo_mondo_0008944_medgen_c4551568_omim_213300 Joubert syndrome 1 MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300 21 21 1.0000 condition_architecture_interpretable 20 0 18 Joubert_syndrome_1 79 compact_adjacent_exon_block_opportunity local_compact_architecture IARS2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 21 21 1.0000 condition_record_support_limited 20 21 3 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPDL mondo_mondo_0033613_medgen_c5436628_omim_619026_orphanet_210141_orphanet_641353 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MONDO:MONDO:0033613,MedGen:C5436628,OMIM:619026,Orphanet:210141,Orphanet:641353 21 21 1.0000 condition_architecture_interpretable 20 0 14 Neurodevelopmental_disorder_with_progressive_spasticity_and_brain_white_matter_abnormalities 48 single_exon_hotspot_opportunity local_compact_architecture HMOX1 condition_not_provided condition not provided MedGen:C3661900 21 21 1.0000 condition_record_support_limited 20 21 4 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HBB mondo_mondo_0011399_medgen_c0002312_omim_604131_orphanet_846 alpha Thalassemia MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846 21 21 1.0000 condition_architecture_interpretable 20 0 21 alpha_Thalassemia 428 compact_adjacent_exon_block_opportunity local_compact_architecture GRK1 mondo_mondo_0013259_medgen_c3150678_omim_613411_orphanet_75382 Oguchi disease-2 MONDO:MONDO:0013259,MedGen:C3150678,OMIM:613411,Orphanet:75382 21 21 1.0000 condition_architecture_interpretable 20 0 4 Oguchi_disease-2 21 compact_adjacent_exon_block_opportunity local_compact_architecture GPSM2 mondo_mondo_0011411_medgen_c1858695_omim_604213_orphanet_314597 Chudley-McCullough syndrome MONDO:MONDO:0011411,MedGen:C1858695,OMIM:604213,Orphanet:314597 21 21 1.0000 condition_architecture_interpretable 20 0 8 Chudley-McCullough_syndrome 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPLD1 mondo_mondo_0010083_medgen_c0268631_omim_271980_orphanet_22 Succinate-semialdehyde dehydrogenase deficiency MONDO:MONDO:0010083,MedGen:C0268631,OMIM:271980,Orphanet:22 21 21 1.0000 condition_architecture_interpretable 20 0 3 Succinate-semialdehyde_dehydrogenase_deficiency 21 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture GNB5 mondo_mondo_0014953_medgen_c5568877_omim_617173_orphanet_542306 Gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:MONDO:0014953,MedGen:C5568877,OMIM:617173,Orphanet:542306 21 21 1.0000 condition_architecture_interpretable 20 0 10 Gnb5-related_intellectual_disability-cardiac_arrhythmia_syndrome 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS mondo_mondo_0011301_medgen_c1864100_omim_603233_orphanet_94089 Pseudohypoparathyroidism type 1B MONDO:MONDO:0011301,MedGen:C1864100,OMIM:603233,Orphanet:94089 21 21 1.0000 condition_architecture_interpretable 20 0 19 Pseudohypoparathyroidism_type_1B 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS human_phenotype_ontology_hp_0025027_mondo_mondo_0008153_medgen_c0334041_omim_166350_orphanet_2762 Progressive osseous heteroplasia Human_Phenotype_Ontology:HP:0025027,MONDO:MONDO:0008153,MedGen:C0334041,OMIM:166350,Orphanet:2762 21 21 1.0000 condition_architecture_interpretable 20 0 19 Progressive_osseous_heteroplasia 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI3 mondo_mondo_0008266_medgen_c4282400_omim_174200 Polydactyly, postaxial, type A1 MONDO:MONDO:0008266,MedGen:C4282400,OMIM:174200 21 21 1.0000 condition_architecture_interpretable 20 0 11 Polydactyly,_postaxial,_type_A1 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDF1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 21 21 1.0000 condition_record_support_limited 20 21 6 not_provided|not_specified 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBE1 condition_not_provided condition not provided .|MedGen:C3661900 21 21 1.0000 condition_record_support_limited 20 21 20 See_cases|not_provided 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA2 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 21 21 1.0000 condition_architecture_interpretable 20 0 6 Spastic_paraplegia 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALE mondo_mondo_0958333_medgen_c5935599_omim_620776 Thrombocytopenia 13, syndromic MONDO:MONDO:0958333,MedGen:C5935599,OMIM:620776 21 21 1.0000 condition_architecture_interpretable 20 0 20 Thrombocytopenia_13,_syndromic 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLNC mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 Primary familial dilated cardiomyopathy MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 21 21 1.0000 condition_architecture_interpretable 20 0 10 Primary_familial_dilated_cardiomyopathy 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLCN mondo_mondo_0007763_medgen_cn074294_omim_144700_orphanet_422526 Nonpapillary renal cell carcinoma MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526 21 21 1.0000 condition_architecture_interpretable 20 0 21 Nonpapillary_renal_cell_carcinoma 425 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FGA mondo_mondo_0007099_medgen_c0268389_omim_105200_orphanet_85450 Familial visceral amyloidosis, Ostertag type MONDO:MONDO:0007099,MedGen:C0268389,OMIM:105200,Orphanet:85450 21 21 1.0000 condition_architecture_interpretable 20 0 18 Familial_visceral_amyloidosis,_Ostertag_type 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F7 mondo_mondo_0012039_medgen_c1832662_omim_608446 Myocardial infarction, susceptibility to MONDO:MONDO:0012039,MedGen:C1832662,OMIM:608446 21 21 1.0000 condition_architecture_interpretable 20 0 21 Myocardial_infarction,_susceptibility_to 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETV6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 21 21 1.0000 condition_architecture_interpretable 20 0 6 Inborn_genetic_diseases 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPB41 mondo_mondo_0012731_medgen_c2678497_omim_611804_orphanet_288 Elliptocytosis 1 MONDO:MONDO:0012731,MedGen:C2678497,OMIM:611804,Orphanet:288 21 21 1.0000 condition_architecture_interpretable 20 0 6 Elliptocytosis_1 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENPP1 human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Type 2 diabetes mellitus Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 21 21 1.0000 condition_architecture_interpretable 20 0 20 Type_2_diabetes_mellitus 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EMC1 mondo_mondo_0014811_medgen_c4225172_omim_616875 Cerebellar atrophy, visual impairment, and psychomotor retardation MONDO:MONDO:0014811,MedGen:C4225172,OMIM:616875 21 21 1.0000 condition_architecture_interpretable 20 0 12 Cerebellar_atrophy,_visual_impairment,_and_psychomotor_retardation%3B 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EEF1A2 mondo_mondo_0014625_medgen_c4225337_omim_616409_orphanet_442835 Developmental and epileptic encephalopathy, 33 MONDO:MONDO:0014625,MedGen:C4225337,OMIM:616409,Orphanet:442835 21 21 1.0000 condition_architecture_interpretable 20 0 11 Developmental_and_epileptic_encephalopathy,_33 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHFR condition_not_provided condition not provided MedGen:C3661900 21 21 1.0000 condition_record_support_limited 20 21 13 not_provided 43 compact_adjacent_exon_block_opportunity local_compact_architecture DHFR mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 21 21 1.0000 condition_architecture_interpretable 20 0 14 Hereditary_cancer-predisposing_syndrome 43 compact_adjacent_exon_block_opportunity local_compact_architecture DGKE mondo_mondo_0014005_medgen_c3554330_omim_615008_orphanet_329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis MONDO:MONDO:0014005,MedGen:C3554330,OMIM:615008,Orphanet:329903 21 21 1.0000 condition_architecture_interpretable 20 0 12 Immunoglobulin-mediated_membranoproliferative_glomerulonephritis 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP4V2 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 21 21 1.0000 condition_architecture_interpretable 20 0 15 Retinal_dystrophy 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNND1 mondo_mondo_0040503_medgen_c4540127_omim_617681 Blepharocheilodontic syndrome 2 MONDO:MONDO:0040503,MedGen:C4540127,OMIM:617681 21 21 1.0000 condition_architecture_interpretable 20 0 4 Blepharocheilodontic_syndrome_2 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 21 21 1.0000 condition_architecture_interpretable 20 0 8 Inborn_genetic_diseases 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CREBBP crebbp_related_disorder CREBBP-related disorder . 21 21 1.0000 condition_architecture_interpretable 20 0 11 CREBBP-related_disorder 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COQ8B mondo_mondo_0014257_medgen_c3809965_omim_615573_orphanet_656 Nephrotic syndrome, type 9 MONDO:MONDO:0014257,MedGen:C3809965,OMIM:615573,Orphanet:656 21 21 1.0000 condition_architecture_interpretable 20 0 8 Nephrotic_syndrome,_type_9 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ6 mondo_mondo_0013836_medgen_c3553349_omim_614650_orphanet_280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness MONDO:MONDO:0013836,MedGen:C3553349,OMIM:614650,Orphanet:280406 21 21 1.0000 condition_architecture_interpretable 20 0 5 Familial_steroid-resistant_nephrotic_syndrome_with_sensorineural_deafness 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ2 mondo_mondo_0011829_medgen_c3551954_omim_607426_orphanet_255249 Coenzyme Q10 deficiency, primary, 1 MONDO:MONDO:0011829,MedGen:C3551954,OMIM:607426,Orphanet:255249 21 21 1.0000 condition_architecture_interpretable 20 0 13 Coenzyme_Q10_deficiency,_primary,_1 40 compact_adjacent_exon_block_opportunity local_compact_architecture COL2A1 mondo_mondo_0031001_medgen_c1852989_omim_619248 Vitreoretinopathy with phalangeal epiphyseal dysplasia MONDO:MONDO:0031001,MedGen:C1852989,OMIM:619248 21 21 1.0000 condition_architecture_interpretable 20 0 21 Vitreoretinopathy_with_phalangeal_epiphyseal_dysplasia 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A2 human_phenotype_ontology_hp_0000939_human_phenotype_ontology_hp_0002774_mondo_mondo_0005298_medgen_c0029456_omim_166710 Osteoporosis Human_Phenotype_Ontology:HP:0000939,Human_Phenotype_Ontology:HP:0002774,MONDO:MONDO:0005298,MedGen:C0029456,OMIM:166710 21 21 1.0000 condition_architecture_interpretable 20 0 19 Osteoporosis 722 large_gene_or_donor_burden_stress_case donor_burden_stress COASY mondo_mondo_0014290_medgen_c4517377_omim_615643_orphanet_397725 Neurodegeneration with brain iron accumulation 6 MONDO:MONDO:0014290,MedGen:C4517377,OMIM:615643,Orphanet:397725 21 21 1.0000 condition_architecture_interpretable 20 0 7 Neurodegeneration_with_brain_iron_accumulation_6 30 compact_adjacent_exon_block_opportunity local_compact_architecture CNNM4 mondo_mondo_0009007_medgen_c3495589_omim_217080_orphanet_1873 Jalili syndrome MONDO:MONDO:0009007,MedGen:C3495589,OMIM:217080,Orphanet:1873 21 21 1.0000 condition_architecture_interpretable 20 0 5 Jalili_syndrome 49 compact_adjacent_exon_block_opportunity local_compact_architecture CNNM2 mondo_mondo_0020787_medgen_c4225333_omim_616418_orphanet_34527 Hypomagnesemia, seizures, and intellectual disability 1 MONDO:MONDO:0020787,MedGen:C4225333,OMIM:616418,Orphanet:34527 21 21 1.0000 condition_architecture_interpretable 20 0 6 Hypomagnesemia,_seizures,_and_intellectual_disability_1 39 compact_adjacent_exon_block_opportunity local_compact_architecture CHD8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 21 21 1.0000 condition_architecture_interpretable 20 0 9 Inborn_genetic_diseases 212 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 21 21 1.0000 condition_architecture_interpretable 20 0 18 Intellectual_disability 122 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CERS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 21 21 1.0000 condition_record_support_limited 20 21 6 not_provided|not_specified 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP250 mondo_mondo_0020780_medgen_c5193051_omim_618358 Cone-rod dystrophy and hearing loss 2 MONDO:MONDO:0020780,MedGen:C5193051,OMIM:618358 21 21 1.0000 condition_architecture_interpretable 20 0 12 Cone-rod_dystrophy_and_hearing_loss_2 102 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CAST mondo_mondo_0010961_medgen_c1833053_omim_600955_orphanet_71528 Obesity due to prohormone convertase I deficiency MONDO:MONDO:0010961,MedGen:C1833053,OMIM:600955,Orphanet:71528 21 21 1.0000 condition_architecture_interpretable 20 0 3 Obesity_due_to_prohormone_convertase_I_deficiency 51 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture BRAF mondo_mondo_0013379_medgen_c3150970_omim_613706_orphanet_648 Noonan syndrome 7 MONDO:MONDO:0013379,MedGen:C3150970,OMIM:613706,Orphanet:648 21 21 1.0000 condition_architecture_interpretable 20 0 21 Noonan_syndrome_7 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 Noonan syndrome MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 21 21 1.0000 condition_architecture_interpretable 20 0 21 Noonan_syndrome 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS4 bbs4_related_disorder BBS4-related disorder . 21 21 1.0000 condition_architecture_interpretable 20 0 17 BBS4-related_disorder 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASTN2 mondo_mondo_0014439_medgen_c1859569_omim_615988_orphanet_110 Bardet-Biedl syndrome 11 MONDO:MONDO:0014439,MedGen:C1859569,OMIM:615988,Orphanet:110 21 21 1.0000 condition_architecture_interpretable 20 0 20 Bardet-Biedl_syndrome_11 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASPM mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 21 21 1.0000 condition_architecture_interpretable 20 0 12 Inborn_genetic_diseases 348 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASAH1 mondo_mondo_0008045_medgen_c1834569_omim_159950_orphanet_2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950,Orphanet:2590 21 21 1.0000 condition_architecture_interpretable 20 0 15 Spinal_muscular_atrophy-progressive_myoclonic_epilepsy_syndrome 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARMC5 mondo_mondo_0014416_medgen_c4014803_omim_615954_orphanet_189427 ACTH-independent macronodular adrenal hyperplasia 2 MONDO:MONDO:0014416,MedGen:C4014803,OMIM:615954,Orphanet:189427 21 21 1.0000 condition_architecture_interpretable 20 0 1 ACTH-independent_macronodular_adrenal_hyperplasia_2 30 compact_adjacent_exon_block_opportunity local_compact_architecture ARCN1 mondo_mondo_0014948_medgen_c4310686_omim_617164_orphanet_659702 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay MONDO:MONDO:0014948,MedGen:C4310686,OMIM:617164,Orphanet:659702 21 21 1.0000 condition_architecture_interpretable 20 0 2 Short_stature,_rhizomelic,_with_microcephaly,_micrognathia,_and_developmental_delay 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APTX condition_not_provided condition not provided MedGen:C3661900 21 21 1.0000 condition_record_support_limited 20 21 7 not_provided 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APP condition_not_provided condition not provided MedGen:C3661900 21 21 1.0000 condition_record_support_limited 20 21 19 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOB mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 21 21 1.0000 condition_architecture_interpretable 20 0 6 Hypercholesterolemia,_familial,_1 248 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AP4M1 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 21 21 1.0000 condition_architecture_interpretable 20 0 13 Spastic_paraplegia 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4E1 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 21 21 1.0000 condition_architecture_interpretable 20 0 6 Spastic_paraplegia 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANK2 mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 21 21 1.0000 condition_architecture_interpretable 20 0 2 Long_QT_syndrome 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AMHR2 mondo_mondo_0009857_medgen_c1849930_omim_261550_orphanet_2856 Persistent Mullerian duct syndrome MONDO:MONDO:0009857,MedGen:C1849930,OMIM:261550,Orphanet:2856 21 21 1.0000 condition_architecture_interpretable 20 0 6 Persistent_Mullerian_duct_syndrome 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALS2 condition_not_provided condition not provided MedGen:C3661900 21 21 1.0000 condition_record_support_limited 20 21 13 not_provided 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIP mondo_mondo_0007052_medgen_c4538355_omim_102200_orphanet_314777_orphanet_963 Somatotroph adenoma MONDO:MONDO:0007052,MedGen:C4538355,OMIM:102200,Orphanet:314777,Orphanet:963 21 21 1.0000 condition_architecture_interpretable 20 0 13 Somatotroph_adenoma 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHI1 mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 21 21 1.0000 condition_architecture_interpretable 20 0 16 Joubert_syndrome_and_related_disorders 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACVRL1 mondo_mondo_0019180_medgen_c0039445_omim_ps187300_orphanet_774 Hereditary hemorrhagic telangiectasia MONDO:MONDO:0019180,MedGen:C0039445,OMIM:PS187300,Orphanet:774 21 21 1.0000 condition_architecture_interpretable 20 0 15 Hereditary_hemorrhagic_telangiectasia 546 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 21 21 1.0000 condition_record_support_limited 20 21 15 not_provided 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACBD5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 21 21 1.0000 condition_record_support_limited 20 21 1 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABHD5 mondo_mondo_0010155_medgen_c0268238_omim_275630_orphanet_98907 Triglyceride storage disease with ichthyosis MONDO:MONDO:0010155,MedGen:C0268238,OMIM:275630,Orphanet:98907 21 21 1.0000 condition_architecture_interpretable 20 0 7 Triglyceride_storage_disease_with_ichthyosis 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC6 abcc6_related_disorder ABCC6-related disorder . 21 21 1.0000 condition_architecture_interpretable 20 0 20 ABCC6-related_disorder 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA4 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 21 21 1.0000 condition_architecture_interpretable 20 0 18 Cone-rod_dystrophy 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ZFHX3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 20 20 1.0000 condition_record_support_limited 20 20 1 not_provided|not_specified 38 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZC4H2 mondo_mondo_0026762_medgen_c5393303_omim_301041 Wieacker-Wolff syndrome, female-restricted MONDO:MONDO:0026762,MedGen:C5393303,OMIM:301041 20 20 1.0000 condition_architecture_interpretable 20 0 6 Wieacker-Wolff_syndrome,_female-restricted 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WT1 wt1_related_disorder WT1-related disorder MedGen:CN377814 20 20 1.0000 condition_architecture_interpretable 20 0 12 WT1-related_disorder 153 compact_adjacent_exon_block_opportunity local_compact_architecture WDR74 rnu2_2_related_disorder RNU2-2 related disorder . 20 20 1.0000 condition_architecture_interpretable 20 0 5 RNU2-2_related_disorder 24 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture VIPAS39 mondo_mondo_0013255_medgen_c3150672_omim_613404_orphanet_2697 Arthrogryposis, renal dysfunction, and cholestasis 2 MONDO:MONDO:0013255,MedGen:C3150672,OMIM:613404,Orphanet:2697 20 20 1.0000 condition_architecture_interpretable 20 0 4 Arthrogryposis,_renal_dysfunction,_and_cholestasis_2 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VDR condition_not_provided condition not provided MedGen:C3661900 20 20 1.0000 condition_record_support_limited 20 20 9 not_provided 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBAP1 mondo_mondo_0032737_medgen_c5193084_omim_618418_orphanet_631068 Spastic paraplegia 80, autosomal dominant MONDO:MONDO:0032737,MedGen:C5193084,OMIM:618418,Orphanet:631068 20 20 1.0000 condition_architecture_interpretable 20 0 1 Spastic_paraplegia_80,_autosomal_dominant 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC14 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 20 20 1.0000 condition_architecture_interpretable 20 0 7 Primary_ciliary_dyskinesia 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSPEAR mondo_mondo_0032584_medgen_c4748560_omim_618180_orphanet_685067 Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis MONDO:MONDO:0032584,MedGen:C4748560,OMIM:618180,Orphanet:685067 20 20 1.0000 condition_architecture_interpretable 20 0 16 Ectodermal_dysplasia_14,_hair/tooth_type_with_or_without_hypohidrosis 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 20 20 1.0000 condition_record_support_limited 20 20 14 not_provided|not_specified 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TOMT mondo_mondo_0012670_medgen_c1969621_omim_611451_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 63 MONDO:MONDO:0012670,MedGen:C1969621,OMIM:611451,Orphanet:90636 20 20 1.0000 condition_architecture_interpretable 20 0 3 Autosomal_recessive_nonsyndromic_hearing_loss_63 24 compact_adjacent_exon_block_opportunity local_compact_architecture TFAP2A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 20 20 1.0000 condition_record_support_limited 20 20 11 not_provided 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TEK mondo_mondo_0010842_medgen_c1838437_omim_600195_orphanet_2451 Multiple cutaneous and mucosal venous malformations MONDO:MONDO:0010842,MedGen:C1838437,OMIM:600195,Orphanet:2451 20 20 1.0000 condition_architecture_interpretable 20 0 14 Multiple_cutaneous_and_mucosal_venous_malformations 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBR1 condition_not_provided condition not provided .|MedGen:C3661900 20 20 1.0000 condition_record_support_limited 20 20 5 See_cases|not_provided 69 compact_adjacent_exon_block_opportunity local_compact_architecture SRRM2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 20 20 1.0000 condition_architecture_interpretable 20 0 7 Neurodevelopmental_disorder 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPG7 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 20 20 1.0000 condition_architecture_interpretable 20 0 19 Hereditary_spastic_paraplegia 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCD2 condition_not_provided condition not provided MedGen:C3661900 20 20 1.0000 condition_record_support_limited 20 20 1 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A19 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 20 20 1.0000 condition_record_support_limited 20 20 9 not_provided|not_specified 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC4A1 mondo_mondo_0008494_medgen_c1861453_omim_185020_orphanet_398088 Cryohydrocytosis MONDO:MONDO:0008494,MedGen:C1861453,OMIM:185020,Orphanet:398088 20 20 1.0000 condition_architecture_interpretable 20 0 16 Cryohydrocytosis 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A5 condition_not_provided condition not provided MedGen:C3661900 20 20 1.0000 condition_record_support_limited 20 20 1 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A1 condition_not_provided condition not provided MedGen:C3661900 20 20 1.0000 condition_record_support_limited 20 20 19 not_provided 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHC condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 20 20 1.0000 condition_record_support_limited 20 20 18 not_provided|not_specified 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCNN1B mondo_mondo_0020607_medgen_cn031472_omim_177200_orphanet_526 Liddle syndrome 1 MONDO:MONDO:0020607,MedGen:CN031472,OMIM:177200,Orphanet:526 20 20 1.0000 condition_architecture_interpretable 20 0 15 Liddle_syndrome_1 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN5A mondo_mondo_0011376_medgen_c2751898_omim_603829_orphanet_228140 Ventricular fibrillation, paroxysmal familial, type 1 MONDO:MONDO:0011376,MedGen:C2751898,OMIM:603829,Orphanet:228140 20 20 1.0000 condition_architecture_interpretable 20 0 20 Ventricular_fibrillation,_paroxysmal_familial,_type_1 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCARB2 mondo_mondo_0020074_medgen_c0751778_omim_ps254800_orphanet_308_orphanet_98261 Progressive myoclonic epilepsy MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261 20 20 1.0000 condition_architecture_interpretable 20 0 10 Progressive_myoclonic_epilepsy 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 20 20 1.0000 condition_architecture_interpretable 20 0 10 Inborn_genetic_diseases 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS19 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 20 20 1.0000 condition_record_support_limited 20 20 9 not_provided 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RP2 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 20 20 1.0000 condition_architecture_interpretable 20 0 8 Retinitis_pigmentosa 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNU2-2 rnu2_2_related_disorder RNU2-2 related disorder . 20 20 1.0000 condition_architecture_interpretable 20 0 5 RNU2-2_related_disorder 24 single_exon_hotspot_opportunity local_compact_architecture RMRP condition_not_provided condition not provided MedGen:C3661900 20 20 1.0000 condition_record_support_limited 20 20 19 not_provided 302 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation RET human_phenotype_ontology_hp_0002666_mondo_mondo_0008233_medgen_c0031511_omim_171300_orphanet_29072 Pheochromocytoma Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072 20 20 1.0000 condition_architecture_interpretable 20 0 20 Pheochromocytoma 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAC1 mondo_mondo_0030913_medgen_c4540321_omim_617751_orphanet_500159 Intellectual disability, autosomal dominant 48 MONDO:MONDO:0030913,MedGen:C4540321,OMIM:617751,Orphanet:500159 20 20 1.0000 condition_architecture_interpretable 20 0 9 Intellectual_disability,_autosomal_dominant_48 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP2 mondo_mondo_0013641_medgen_c3280214_omim_614225_orphanet_2510 Warburg micro syndrome 2 MONDO:MONDO:0013641,MedGen:C3280214,OMIM:614225,Orphanet:2510 20 20 1.0000 condition_architecture_interpretable 20 0 11 Warburg_micro_syndrome_2 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSAP mondo_mondo_0012719_medgen_c2673635_omim_611721_orphanet_139406 Combined PSAP deficiency MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orphanet:139406 20 20 1.0000 condition_architecture_interpretable 20 0 15 Combined_PSAP_deficiency 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRRT2 mondo_mondo_0011178_medgen_c1865926_omim_602066_orphanet_31709 Infantile convulsions and choreoathetosis MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066,Orphanet:31709 20 20 1.0000 condition_architecture_interpretable 20 0 16 Infantile_convulsions_and_choreoathetosis 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROC mondo_mondo_0012860_medgen_c2676759_omim_612304_orphanet_745 Thrombophilia due to protein C deficiency, autosomal recessive MONDO:MONDO:0012860,MedGen:C2676759,OMIM:612304,Orphanet:745 20 20 1.0000 condition_architecture_interpretable 20 0 16 Thrombophilia_due_to_protein_C_deficiency,_autosomal_recessive 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKCG condition_not_provided condition not provided MedGen:C3661900 20 20 1.0000 condition_record_support_limited 20 20 16 not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPT1 mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 Neuronal ceroid lipofuscinosis MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 20 20 1.0000 condition_architecture_interpretable 20 0 19 Neuronal_ceroid_lipofuscinosis 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP2CA mondo_mondo_0032697_medgen_c5193048_omim_618354 Houge-Janssens syndrome 3 MONDO:MONDO:0032697,MedGen:C5193048,OMIM:618354 20 20 1.0000 condition_architecture_interpretable 20 0 4 Houge-Janssens_syndrome_3 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGLUT1 condition_not_provided condition not provided MedGen:C3661900 20 20 1.0000 condition_record_support_limited 20 20 4 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD2 mondo_mondo_0012217_medgen_c1836602_omim_609220_orphanet_2771 Bruck syndrome 2 MONDO:MONDO:0012217,MedGen:C1836602,OMIM:609220,Orphanet:2771 20 20 1.0000 condition_architecture_interpretable 20 0 5 Bruck_syndrome_2 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD1 pkd1_biallelic_autosomal_recessive_polycystic_kidney_disease PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease . 20 20 1.0000 condition_architecture_interpretable 20 0 13 PKD1-Biallelic_Autosomal_Recessive_Polycystic_Kidney_Disease 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PEX19 mondo_mondo_0013951_medgen_c3554002_omim_614886_orphanet_912 Peroxisome biogenesis disorder 12A (Zellweger) MONDO:MONDO:0013951,MedGen:C3554002,OMIM:614886,Orphanet:912 20 20 1.0000 condition_architecture_interpretable 20 0 2 Peroxisome_biogenesis_disorder_12A_(Zellweger) 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTOG medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 20 20 1.0000 condition_architecture_interpretable 20 0 12 Rare_genetic_deafness 130 large_gene_or_donor_burden_stress_case donor_burden_stress ORC1 condition_not_provided condition not provided MedGen:C3661900 20 20 1.0000 condition_record_support_limited 20 20 5 not_provided 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHS1 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 20 20 1.0000 condition_architecture_interpretable 20 0 18 Nephrotic_syndrome 468 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NF1 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 20 20 1.0000 condition_architecture_interpretable 20 0 17 Gastric_cancer 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NEK1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 20 20 1.0000 condition_record_support_limited 20 20 13 not_provided|not_specified 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFS1 mondo_mondo_0032610_medgen_c4748754_omim_618226 Mitochondrial complex I deficiency, nuclear type 5 MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226 20 20 1.0000 condition_architecture_interpretable 20 0 9 Mitochondrial_complex_I_deficiency,_nuclear_type_5 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFAF6 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 20 20 1.0000 condition_record_support_limited 20 20 6 not_provided 34 compact_adjacent_exon_block_opportunity local_compact_architecture NARS2 mondo_mondo_0014547_medgen_c4015643_omim_616239_orphanet_444458 Combined oxidative phosphorylation defect type 24 MONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239,Orphanet:444458 20 20 1.0000 condition_architecture_interpretable 20 0 8 Combined_oxidative_phosphorylation_defect_type_24 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MUTYH mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 20 20 1.0000 condition_architecture_interpretable 20 0 20 Carcinoma_of_colon 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH6 lynch_like_syndrome Lynch-like syndrome . 20 20 1.0000 condition_architecture_interpretable 20 0 18 Lynch-like_syndrome 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH2 inherited_mmr_deficiency_lynch_syndrome Inherited MMR deficiency (Lynch syndrome) . 20 20 1.0000 condition_architecture_interpretable 20 0 19 Inherited_MMR_deficiency_(Lynch_syndrome) 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MPZ mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 20 20 1.0000 condition_architecture_interpretable 20 0 18 Inborn_genetic_diseases 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MC4R condition_not_provided condition not provided MedGen:C3661900 20 20 1.0000 condition_record_support_limited 20 20 16 not_provided 59 single_exon_hotspot_opportunity local_compact_architecture LINS1 mondo_mondo_0013702_medgen_c3280538_omim_614340_orphanet_88616 Intellectual disability, autosomal recessive 27 MONDO:MONDO:0013702,MedGen:C3280538,OMIM:614340,Orphanet:88616 20 20 1.0000 condition_architecture_interpretable 20 0 3 Intellectual_disability,_autosomal_recessive_27 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 20 20 1.0000 condition_record_support_limited 20 20 2 not_provided|not_specified 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMA3 mondo_mondo_0017612_medgen_c0079301_omim_ps226650_orphanet_305 Junctional epidermolysis bullosa MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305 20 20 1.0000 condition_architecture_interpretable 20 0 10 Junctional_epidermolysis_bullosa 266 large_gene_or_donor_burden_stress_case donor_burden_stress KRT6A mondo_mondo_0014324_medgen_c3714948_omim_615726_orphanet_2309 Pachyonychia congenita 3 MONDO:MONDO:0014324,MedGen:C3714948,OMIM:615726,Orphanet:2309 20 20 1.0000 condition_architecture_interpretable 20 0 13 Pachyonychia_congenita_3 29 compact_adjacent_exon_block_opportunity local_compact_architecture KLHL3 mondo_mondo_0007772_medgen_c1840389_omim_145260_orphanet_757_orphanet_88938 Pseudohypoaldosteronism type 2A MONDO:MONDO:0007772,MedGen:C1840389,OMIM:145260,Orphanet:757,Orphanet:88938 20 20 1.0000 condition_architecture_interpretable 20 0 11 Pseudohypoaldosteronism_type_2A 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ11 human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Type 2 diabetes mellitus Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 20 20 1.0000 condition_architecture_interpretable 20 0 11 Type_2_diabetes_mellitus 72 single_exon_hotspot_opportunity local_compact_architecture KAT6A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 20 20 1.0000 condition_architecture_interpretable 20 0 9 Inborn_genetic_diseases 191 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture JAG1 human_phenotype_ontology_hp_0001636_mondo_mondo_0008542_medgen_c0039685_omim_187500_orphanet_3303 Tetralogy of Fallot Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303 20 20 1.0000 condition_architecture_interpretable 20 0 19 Tetralogy_of_Fallot 461 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITPA mondo_mondo_0014719_medgen_c4225256_omim_616647_orphanet_457375 Developmental and epileptic encephalopathy, 35 MONDO:MONDO:0014719,MedGen:C4225256,OMIM:616647,Orphanet:457375 20 20 1.0000 condition_architecture_interpretable 20 0 8 Developmental_and_epileptic_encephalopathy,_35 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA3 mondo_mondo_0013881_medgen_c4518785_omim_614748_orphanet_306504 Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MONDO:MONDO:0013881,MedGen:C4518785,OMIM:614748,Orphanet:306504 20 20 1.0000 condition_architecture_interpretable 20 0 3 Epidermolysis_bullosa,_junctional_7,_with_interstitial_lung_disease_and_nephrotic_syndrome 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA2B condition_not_provided condition not provided MedGen:C3661900 20 20 1.0000 condition_record_support_limited 20 20 17 not_provided 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT172 ift172_related_disorder IFT172-related disorder . 20 20 1.0000 condition_architecture_interpretable 20 0 12 IFT172-related_disorder 157 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture IBA57 mondo_mondo_0014644_medgen_c5568837_omim_616451_orphanet_468661 Hereditary spastic paraplegia 74 MONDO:MONDO:0014644,MedGen:C5568837,OMIM:616451,Orphanet:468661 20 20 1.0000 condition_architecture_interpretable 20 0 20 Hereditary_spastic_paraplegia_74 38 compact_adjacent_exon_block_opportunity local_compact_architecture HTRA1 mondo_mondo_0014768_medgen_c4225211_omim_616779 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 MONDO:MONDO:0014768,MedGen:C4225211,OMIM:616779 20 20 1.0000 condition_architecture_interpretable 20 0 9 Cerebral_arteriopathy,_autosomal_dominant,_with_subcortical_infarcts_and_leukoencephalopathy,_type_2 40 compact_adjacent_exon_block_opportunity local_compact_architecture HSPG2 mondo_mondo_0009140_medgen_c1857100_omim_224410_orphanet_1865 Lethal Kniest-like syndrome MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865 20 20 1.0000 condition_architecture_interpretable 20 0 9 Lethal_Kniest-like_syndrome 116 large_gene_or_donor_burden_stress_case donor_burden_stress HNRNPK condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 20 20 1.0000 condition_record_support_limited 20 20 8 not_provided 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF1A human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Type 2 diabetes mellitus Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 20 20 1.0000 condition_architecture_interpretable 20 0 20 Type_2_diabetes_mellitus 384 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF1A mondo_mondo_0007763_medgen_cn074294_omim_144700_orphanet_422526 Nonpapillary renal cell carcinoma MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526 20 20 1.0000 condition_architecture_interpretable 20 0 20 Nonpapillary_renal_cell_carcinoma 384 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HK1 condition_not_provided condition not provided .|MedGen:C3661900 20 20 1.0000 condition_record_support_limited 20 20 8 See_cases|not_provided 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture H1-4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 20 20 1.0000 condition_record_support_limited 20 20 11 not_provided|not_specified 36 single_exon_hotspot_opportunity local_compact_architecture GSS mondo_mondo_0009284_medgen_c1856399_omim_231900_orphanet_289849_orphanet_32 Glutathione synthetase deficiency without 5-oxoprolinuria MONDO:MONDO:0009284,MedGen:C1856399,OMIM:231900,Orphanet:289849,Orphanet:32 20 20 1.0000 condition_architecture_interpretable 20 0 20 Glutathione_synthetase_deficiency_without_5-oxoprolinuria 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPC3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 20 20 1.0000 condition_record_support_limited 20 20 10 not_provided 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP1BA mondo_mondo_0008332_medgen_c1280798_omim_177820_orphanet_52530 Pseudo von Willebrand disease MONDO:MONDO:0008332,MedGen:C1280798,OMIM:177820,Orphanet:52530 20 20 1.0000 condition_architecture_interpretable 20 0 15 Pseudo_von_Willebrand_disease 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLRB mondo_mondo_0013828_medgen_c3553291_omim_614619_orphanet_3197 Hyperekplexia 2 MONDO:MONDO:0013828,MedGen:C3553291,OMIM:614619,Orphanet:3197 20 20 1.0000 condition_architecture_interpretable 20 0 1 Hyperekplexia_2 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 20 20 1.0000 condition_record_support_limited 20 20 5 not_provided 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLE1 mondo_mondo_0009670_medgen_c1854664_omim_253310_orphanet_1486 Lethal congenital contracture syndrome 1 MONDO:MONDO:0009670,MedGen:C1854664,OMIM:253310,Orphanet:1486 20 20 1.0000 condition_architecture_interpretable 20 0 20 Lethal_congenital_contracture_syndrome_1 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLDN mondo_mondo_0014965_medgen_c4310670_omim_617194 Lethal congenital contracture syndrome 11 MONDO:MONDO:0014965,MedGen:C4310670,OMIM:617194 20 20 1.0000 condition_architecture_interpretable 20 0 5 Lethal_congenital_contracture_syndrome_11 26 compact_adjacent_exon_block_opportunity local_compact_architecture GJB1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 20 20 1.0000 condition_architecture_interpretable 20 0 19 Inborn_genetic_diseases 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAREM2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 20 20 1.0000 condition_record_support_limited 20 20 15 not_provided 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALK1 mondo_mondo_0009183_medgen_c5676875_omim_226730_orphanet_79403 Junctional epidermolysis bullosa with pyloric atresia MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403 20 20 1.0000 condition_architecture_interpretable 20 0 16 Junctional_epidermolysis_bullosa_with_pyloric_atresia 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRB2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 20 20 1.0000 condition_record_support_limited 20 20 10 not_provided 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLT4 mondo_mondo_0007919_medgen_c1704423_omim_153100_orphanet_79452 Hereditary lymphedema type I MONDO:MONDO:0007919,MedGen:C1704423,OMIM:153100,Orphanet:79452 20 20 1.0000 condition_architecture_interpretable 20 0 8 Hereditary_lymphedema_type_I 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLNB mondo_mondo_0007875_medgen_c0175778_omim_150250_orphanet_503 Larsen syndrome MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250,Orphanet:503 20 20 1.0000 condition_architecture_interpretable 20 0 8 Larsen_syndrome 153 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLCN mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 20 20 1.0000 condition_architecture_interpretable 20 0 20 Colorectal_cancer 425 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FANCB mondo_mondo_0010351_medgen_c1845292_omim_300514_orphanet_84 Fanconi anemia complementation group B MONDO:MONDO:0010351,MedGen:C1845292,OMIM:300514,Orphanet:84 20 20 1.0000 condition_architecture_interpretable 20 0 3 Fanconi_anemia_complementation_group_B 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAH condition_not_provided condition not provided MedGen:C3661900 20 20 1.0000 condition_record_support_limited 20 20 19 not_provided 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 20 20 1.0000 condition_record_support_limited 20 20 6 not_provided 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXT1 human_phenotype_ontology_hp_0006765_mondo_mondo_0008977_medgen_c0008479_omim_215300_orphanet_55880 Chondrosarcoma Human_Phenotype_Ontology:HP:0006765,MONDO:MONDO:0008977,MedGen:C0008479,OMIM:215300,Orphanet:55880 20 20 1.0000 condition_architecture_interpretable 20 0 15 Chondrosarcoma 516 compact_adjacent_exon_block_opportunity local_compact_architecture ERF condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 20 20 1.0000 condition_record_support_limited 20 20 14 See_cases|not_provided 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPCAM mondo_mondo_0013184_medgen_c2750737_omim_613217_orphanet_92050 Congenital diarrhea 5 with tufting enteropathy MONDO:MONDO:0013184,MedGen:C2750737,OMIM:613217,Orphanet:92050 20 20 1.0000 condition_architecture_interpretable 20 0 7 Congenital_diarrhea_5_with_tufting_enteropathy 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELOVL4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 20 20 1.0000 condition_record_support_limited 20 20 5 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYSF dysf_related_disorder DYSF-related disorder . 20 20 1.0000 condition_architecture_interpretable 20 0 19 DYSF-related_disorder 913 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC2H1 dync2h1_related_disorder DYNC2H1-related disorder MedGen:CN378770 20 20 1.0000 condition_architecture_interpretable 20 0 15 DYNC2H1-related_disorder 566 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC1H1 mondo_mondo_0008026_medgen_c5780022_omim_158600_orphanet_209341_orphanet_363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures MONDO:MONDO:0008026,MedGen:C5780022,OMIM:158600,Orphanet:209341,Orphanet:363447 20 20 1.0000 condition_architecture_interpretable 20 0 16 Autosomal_dominant_childhood-onset_proximal_spinal_muscular_atrophy_without_contractures 176 large_gene_or_donor_burden_stress_case donor_burden_stress DPYS mondo_mondo_0009111_medgen_c0342803_omim_222748_orphanet_38874 Dihydropyrimidinase deficiency MONDO:MONDO:0009111,MedGen:C0342803,OMIM:222748,Orphanet:38874 20 20 1.0000 condition_architecture_interpretable 20 0 12 Dihydropyrimidinase_deficiency 31 compact_adjacent_exon_block_opportunity local_compact_architecture DPM1 mondo_mondo_0012123_medgen_c1837396_omim_608799_orphanet_79322 Congenital disorder of glycosylation type 1E MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799,Orphanet:79322 20 20 1.0000 condition_architecture_interpretable 20 0 4 Congenital_disorder_of_glycosylation_type_1E 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJC19 mondo_mondo_0012435_medgen_c1857776_omim_610198_orphanet_66634 3-methylglutaconic aciduria type 5 MONDO:MONDO:0012435,MedGen:C1857776,OMIM:610198,Orphanet:66634 20 20 1.0000 condition_architecture_interpretable 20 0 3 3-methylglutaconic_aciduria_type_5 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DEPDC5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 20 20 1.0000 condition_architecture_interpretable 20 0 13 Inborn_genetic_diseases 382 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYB5R3 condition_not_provided condition not provided MedGen:C3661900 20 20 1.0000 condition_record_support_limited 20 20 12 not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSPP1 condition_not_provided condition not provided MedGen:C3661900 20 20 1.0000 condition_record_support_limited 20 20 18 not_provided 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ8B condition_not_provided condition not provided .|MedGen:C3661900 20 20 1.0000 condition_record_support_limited 20 20 8 See_cases|not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL2A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 20 20 1.0000 condition_architecture_interpretable 20 0 7 Inborn_genetic_diseases 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL18A1 mondo_mondo_0800167_medgen_c4551775_omim_267750 Knobloch syndrome 1 MONDO:MONDO:0800167,MedGen:C4551775,OMIM:267750 20 20 1.0000 condition_architecture_interpretable 20 0 13 Knobloch_syndrome_1 214 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL13A1 mondo_mondo_0014745_medgen_c4225235_omim_616720_orphanet_590 Congenital myasthenic syndrome 19 MONDO:MONDO:0014745,MedGen:C4225235,OMIM:616720,Orphanet:590 20 20 1.0000 condition_architecture_interpretable 20 0 6 Congenital_myasthenic_syndrome_19 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL11A2 mondo_mondo_0011159_medgen_c1866095_omim_601868_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 13 MONDO:MONDO:0011159,MedGen:C1866095,OMIM:601868,Orphanet:90635 20 20 1.0000 condition_architecture_interpretable 20 0 16 Autosomal_dominant_nonsyndromic_hearing_loss_13 197 large_gene_or_donor_burden_stress_case donor_burden_stress COG4 mondo_mondo_0013281_medgen_c4303552_omim_613489_orphanet_263501 COG4-congenital disorder of glycosylation MONDO:MONDO:0013281,MedGen:C4303552,OMIM:613489,Orphanet:263501 20 20 1.0000 condition_architecture_interpretable 20 0 6 COG4-congenital_disorder_of_glycosylation 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNTNAP1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 20 20 1.0000 condition_record_support_limited 20 20 5 not_provided 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 20 20 1.0000 condition_architecture_interpretable 20 0 12 Retinitis_pigmentosa 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CIITA mondo_mondo_0971005_medgen_cn377826_omim_209920 MHC class II deficiency 1 MONDO:MONDO:0971005,MedGen:CN377826,OMIM:209920 20 20 1.0000 condition_architecture_interpretable 20 0 13 MHC_class_II_deficiency_1 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFTR ivacaftor_response_efficacy ivacaftor response - Efficacy MedGen:CN322735 20 20 1.0000 condition_architecture_interpretable 20 0 20 ivacaftor_response_-_Efficacy 1471 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP78 mondo_mondo_0020778_medgen_c5193018_omim_617236 Cone-rod dystrophy and hearing loss 1 MONDO:MONDO:0020778,MedGen:C5193018,OMIM:617236 20 20 1.0000 condition_architecture_interpretable 20 0 15 Cone-rod_dystrophy_and_hearing_loss_1 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP41 mondo_mondo_0013763_medgen_c3280897_omim_614464_orphanet_475 Joubert syndrome 15 MONDO:MONDO:0013763,MedGen:C3280897,OMIM:614464,Orphanet:475 20 20 1.0000 condition_architecture_interpretable 20 0 3 Joubert_syndrome_15 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP135 mondo_mondo_0013849_medgen_c3553414_omim_614673_orphanet_2512 Microcephaly 8, primary, autosomal recessive MONDO:MONDO:0013849,MedGen:C3553414,OMIM:614673,Orphanet:2512 20 20 1.0000 condition_architecture_interpretable 20 0 5 Microcephaly_8,_primary,_autosomal_recessive 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC73 mondo_mondo_0007768_medgen_c1704981_omim_145001_orphanet_99880 Hyperparathyroidism 2 with jaw tumors MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001,Orphanet:99880 20 20 1.0000 condition_architecture_interpretable 20 0 16 Hyperparathyroidism_2_with_jaw_tumors 152 compact_adjacent_exon_block_opportunity local_compact_architecture CBL condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 20 20 1.0000 condition_record_support_limited 20 20 13 not_provided|not_specified 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASQ2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 20 20 1.0000 condition_architecture_interpretable 20 0 18 Cardiovascular_phenotype 79 compact_adjacent_exon_block_opportunity local_compact_architecture CASP8 mondo_mondo_0011804_medgen_c1846545_omim_607271_orphanet_275517 Autoimmune lymphoproliferative syndrome type 2B MONDO:MONDO:0011804,MedGen:C1846545,OMIM:607271,Orphanet:275517 20 20 1.0000 condition_architecture_interpretable 20 0 0 Autoimmune_lymphoproliferative_syndrome_type_2B 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C6 mondo_mondo_0012908_medgen_c2676232_omim_612446 Complement component 6 deficiency MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446 20 20 1.0000 condition_architecture_interpretable 20 0 12 Complement_component_6_deficiency 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS2 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 20 20 1.0000 condition_architecture_interpretable 20 0 18 Retinal_dystrophy 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS2 bbs2_related_disorder BBS2-related disorder MedGen:CN239228 20 20 1.0000 condition_architecture_interpretable 20 0 19 BBS2-related_disorder 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AVPR2 human_phenotype_ontology_hp_0009806_mondo_mondo_0016383_medgen_c0162283_orphanet_223 Nephrogenic diabetes insipidus Human_Phenotype_Ontology:HP:0009806,MONDO:MONDO:0016383,MedGen:C0162283,Orphanet:223 20 20 1.0000 condition_architecture_interpretable 20 0 9 Nephrogenic_diabetes_insipidus 109 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATM mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 20 20 1.0000 condition_architecture_interpretable 20 0 20 Malignant_tumor_of_urinary_bladder 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM medgen_c3469522 Breast cancer, susceptibility to MedGen:C3469522 20 20 1.0000 condition_architecture_interpretable 20 0 19 Breast_cancer,_susceptibility_to 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ASPA condition_not_provided condition not provided MedGen:C3661900 20 20 1.0000 condition_record_support_limited 20 20 17 not_provided 182 compact_adjacent_exon_block_opportunity local_compact_architecture ARID1A mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 20 20 1.0000 condition_architecture_interpretable 20 0 2 Malignant_tumor_of_urinary_bladder 141 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AP4M1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 20 20 1.0000 condition_record_support_limited 20 20 14 not_provided|not_specified 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP3B2 mondo_mondo_0015000_medgen_c4310637_omim_617276 Developmental and epileptic encephalopathy, 48 MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 20 20 1.0000 condition_architecture_interpretable 20 0 7 Developmental_and_epileptic_encephalopathy,_48 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANOS1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 20 20 1.0000 condition_record_support_limited 20 20 7 See_cases|not_provided 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADNP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 20 20 1.0000 condition_architecture_interpretable 20 0 13 Inborn_genetic_diseases 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRV1 adgrv1_related_disorder ADGRV1-related disorder . 20 20 1.0000 condition_architecture_interpretable 20 0 10 ADGRV1-related_disorder 650 large_gene_or_donor_burden_stress_case donor_burden_stress ADCY5 mondo_mondo_0800028_medgen_c1847627_omim_606703_orphanet_324588 Dyskinesia with orofacial involvement, autosomal dominant MONDO:MONDO:0800028,MedGen:C1847627,OMIM:606703,Orphanet:324588 20 20 1.0000 condition_architecture_interpretable 20 0 5 Dyskinesia_with_orofacial_involvement,_autosomal_dominant 57 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture ADAMTSL4 mondo_mondo_0009153_medgen_c1644196_omim_225200_orphanet_1885 Ectopia lentis et pupillae MONDO:MONDO:0009153,MedGen:C1644196,OMIM:225200,Orphanet:1885 20 20 1.0000 condition_architecture_interpretable 20 0 19 Ectopia_lentis_et_pupillae 166 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCD1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 20 20 1.0000 condition_architecture_interpretable 20 0 17 Inborn_genetic_diseases 512 compact_adjacent_exon_block_opportunity local_compact_architecture AARS2 mondo_mondo_0014387_medgen_c4014588_omim_615889_orphanet_99853 Leukoencephalopathy, progressive, with ovarian failure MONDO:MONDO:0014387,MedGen:C4014588,OMIM:615889,Orphanet:99853 20 20 1.0000 condition_architecture_interpretable 20 0 9 Leukoencephalopathy,_progressive,_with_ovarian_failure 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF276 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 19 19 1.0000 condition_record_support_limited 20 19 15 not_provided|not_specified 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XPA mondo_mondo_0019600_medgen_c0043346_orphanet_910 Xeroderma pigmentosum MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910 19 19 1.0000 condition_record_support_limited 20 0 15 Xeroderma_pigmentosum 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WNT1 mondo_mondo_0014086_medgen_c3808844_omim_615220_orphanet_666 Osteogenesis imperfecta type 15 MONDO:MONDO:0014086,MedGen:C3808844,OMIM:615220,Orphanet:666 19 19 1.0000 condition_record_support_limited 20 0 8 Osteogenesis_imperfecta_type_15 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WASHC5 mondo_mondo_0019078_medgen_c0796137_omim_ps220210_orphanet_7 Ritscher-Schinzel syndrome MONDO:MONDO:0019078,MedGen:C0796137,OMIM:PS220210,Orphanet:7 19 19 1.0000 condition_record_support_limited 20 0 19 Ritscher-Schinzel_syndrome 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USP9X mondo_mondo_0010487_medgen_c3806746_omim_300919_orphanet_777 Intellectual disability, X-linked 99 MONDO:MONDO:0010487,MedGen:C3806746,OMIM:300919,Orphanet:777 19 19 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability,_X-linked_99 128 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture USB1 condition_not_provided condition not provided MedGen:C3661900 19 19 1.0000 condition_record_support_limited 20 19 9 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBA5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 19 19 1.0000 condition_record_support_limited 20 19 8 not_provided 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC21B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 19 19 1.0000 condition_record_support_limited 20 19 14 not_provided|not_specified 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSHR mondo_mondo_0011309_medgen_c1863959_omim_603373_orphanet_99819 Familial gestational hyperthyroidism MONDO:MONDO:0011309,MedGen:C1863959,OMIM:603373,Orphanet:99819 19 19 1.0000 condition_record_support_limited 20 0 17 Familial_gestational_hyperthyroidism 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRRAP mondo_mondo_0032760_medgen_c5193106_omim_618454 Developmental delay with or without dysmorphic facies and autism MONDO:MONDO:0032760,MedGen:C5193106,OMIM:618454 19 19 1.0000 condition_record_support_limited 20 0 4 Developmental_delay_with_or_without_dysmorphic_facies_and_autism 31 large_gene_or_donor_burden_stress_case donor_burden_stress TRMT1 mondo_mondo_0032665_medgen_c4749033_omim_618302 Intellectual developmental disorder, autosomal recessive 68 MONDO:MONDO:0032665,MedGen:C4749033,OMIM:618302 19 19 1.0000 condition_record_support_limited 20 0 4 Intellectual_developmental_disorder,_autosomal_recessive_68 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIM32 condition_not_provided condition not provided MedGen:C3661900 19 19 1.0000 condition_record_support_limited 20 19 10 not_provided 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC11 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 19 19 1.0000 condition_record_support_limited 20 19 13 not_provided 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TOE1 mondo_mondo_0013993_medgen_c3554226_omim_614969_orphanet_284339 Pontocerebellar hypoplasia type 7 MONDO:MONDO:0013993,MedGen:C3554226,OMIM:614969,Orphanet:284339 19 19 1.0000 condition_record_support_limited 20 0 3 Pontocerebellar_hypoplasia_type_7 38 compact_adjacent_exon_block_opportunity local_compact_architecture TNRC6B condition_not_provided condition not provided MedGen:C3661900 19 19 1.0000 condition_record_support_limited 20 19 7 not_provided 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TMEM67 tmem67_related_disorder TMEM67-related disorder MedGen:CN239423 19 19 1.0000 condition_record_support_limited 20 0 16 TMEM67-related_disorder 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TECRL cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 19 19 1.0000 condition_record_support_limited 20 0 7 Cardiovascular_phenotype 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D24 mondo_mondo_0009079_medgen_c0795934_omim_220500_orphanet_3231_orphanet_79500 DOORS syndrome MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500,Orphanet:3231,Orphanet:79500 19 19 1.0000 condition_record_support_limited 20 0 14 DOORS_syndrome 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUZ12 mondo_mondo_0032916_medgen_c5394073_omim_618786_orphanet_659463 Imagawa-Matsumoto syndrome MONDO:MONDO:0032916,MedGen:C5394073,OMIM:618786,Orphanet:659463 19 19 1.0000 condition_record_support_limited 20 0 5 Imagawa-Matsumoto_syndrome 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAT1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 19 19 1.0000 condition_record_support_limited 20 19 9 not_provided 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SRCAP mondo_mondo_0859202_medgen_c5562012_omim_619595 Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595 19 19 1.0000 condition_record_support_limited 20 0 9 Developmental_delay,_hypotonia,_musculoskeletal_defects,_and_behavioral_abnormalities 111 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTB mondo_mondo_0054780_medgen_c1866810_omim_617948 Elliptocytosis 3 MONDO:MONDO:0054780,MedGen:C1866810,OMIM:617948 19 19 1.0000 condition_record_support_limited 20 0 12 Elliptocytosis_3 557 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SOX4 mondo_mondo_0032791_medgen_c4760583_omim_618506 Coffin-Siris syndrome 10 MONDO:MONDO:0032791,MedGen:C4760583,OMIM:618506 19 19 1.0000 condition_record_support_limited 20 0 5 Coffin-Siris_syndrome_10 25 single_exon_hotspot_opportunity local_compact_architecture SMS mondo_mondo_0010664_medgen_c0796160_omim_309583_orphanet_3063 Syndromic X-linked intellectual disability Snyder type MONDO:MONDO:0010664,MedGen:C0796160,OMIM:309583,Orphanet:3063 19 19 1.0000 condition_record_support_limited 20 0 3 Syndromic_X-linked_intellectual_disability_Snyder_type 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMN1 mondo_mondo_0009672_medgen_c0152109_omim_253400_orphanet_70_orphanet_83419 Kugelberg-Welander disease MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400,Orphanet:70,Orphanet:83419 19 19 1.0000 condition_record_support_limited 20 0 8 Kugelberg-Welander_disease 79 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation SLX4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 19 19 1.0000 condition_record_support_limited 20 19 14 not_provided 153 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SLC4A1 mondo_mondo_0012700_medgen_c5436235_omim_611590_orphanet_93610 Renal tubular acidosis, distal, 4, with hemolytic anemia MONDO:MONDO:0012700,MedGen:C5436235,OMIM:611590,Orphanet:93610 19 19 1.0000 condition_record_support_limited 20 0 18 Renal_tubular_acidosis,_distal,_4,_with_hemolytic_anemia 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC46A1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 19 19 1.0000 condition_record_support_limited 20 19 9 not_provided 26 compact_adjacent_exon_block_opportunity local_compact_architecture SLC34A1 mondo_mondo_0013247_medgen_c3150652_omim_613388 Fanconi renotubular syndrome 2 MONDO:MONDO:0013247,MedGen:C3150652,OMIM:613388 19 19 1.0000 condition_record_support_limited 20 0 18 Fanconi_renotubular_syndrome_2 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A4 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 19 19 1.0000 condition_record_support_limited 20 0 18 Hearing_loss,_autosomal_recessive 631 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A13 condition_not_provided condition not provided MedGen:C3661900 19 19 1.0000 condition_record_support_limited 20 19 16 not_provided 213 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SHANK2 mondo_mondo_0013265_medgen_c3150693_omim_613436 Autism, susceptibility to, 17 MONDO:MONDO:0013265,MedGen:C3150693,OMIM:613436 19 19 1.0000 condition_record_support_limited 20 0 5 Autism,_susceptibility_to,_17 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SGCB condition_not_provided condition not provided MedGen:C3661900 19 19 1.0000 condition_record_support_limited 20 19 19 not_provided 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN5A scn5a_related_disorder SCN5A-related disorder . 19 19 1.0000 condition_record_support_limited 20 0 16 SCN5A-related_disorder 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN3A mondo_mondo_0033371_medgen_c4693699_omim_617938 Developmental and epileptic encephalopathy, 62 MONDO:MONDO:0033371,MedGen:C4693699,OMIM:617938 19 19 1.0000 condition_record_support_limited 20 0 9 Developmental_and_epileptic_encephalopathy,_62 36 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SAMHD1 mondo_mondo_0013739_medgen_c3280721_omim_614415 Chilblain lupus 2 MONDO:MONDO:0013739,MedGen:C3280721,OMIM:614415 19 19 1.0000 condition_record_support_limited 20 0 19 Chilblain_lupus_2 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RSPH4A mondo_mondo_0012978_medgen_c2675229_omim_612649_orphanet_244 Primary ciliary dyskinesia 11 MONDO:MONDO:0012978,MedGen:C2675229,OMIM:612649,Orphanet:244 19 19 1.0000 condition_record_support_limited 20 0 11 Primary_ciliary_dyskinesia_11 57 compact_adjacent_exon_block_opportunity local_compact_architecture RLIG1 human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Nephronophthisis Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 19 19 1.0000 condition_record_support_limited 20 0 19 Nephronophthisis 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLIG1 mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 Meckel-Gruber syndrome MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 19 19 1.0000 condition_record_support_limited 20 0 19 Meckel-Gruber_syndrome 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLIG1 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 19 19 1.0000 condition_record_support_limited 20 0 19 Joubert_syndrome 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIT1 mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 Noonan syndrome MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 19 19 1.0000 condition_record_support_limited 20 0 19 Noonan_syndrome 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture REEP6 condition_not_provided condition not provided MedGen:C3661900 19 19 1.0000 condition_record_support_limited 20 19 5 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RDH12 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 19 19 1.0000 condition_record_support_limited 20 0 16 Retinitis_pigmentosa 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RANBP2 mondo_mondo_0009147_medgen_c3887494_omim_224900_orphanet_238468_orphanet_248 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive MONDO:MONDO:0009147,MedGen:C3887494,OMIM:224900,Orphanet:238468,Orphanet:248 19 19 1.0000 condition_record_support_limited 20 0 9 Ectodermal_dysplasia_10B,_hypohidrotic/hair/tooth_type,_autosomal_recessive 96 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PRPF8 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 19 19 1.0000 condition_record_support_limited 20 0 11 Retinal_dystrophy 77 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PRODH mondo_mondo_0009400_medgen_c0268529_omim_239500_orphanet_419 Proline dehydrogenase deficiency MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419 19 19 1.0000 condition_record_support_limited 20 0 9 Proline_dehydrogenase_deficiency 19 low_record_burden_interpretation_limited low_record_burden_gene PRKAR1A mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 19 19 1.0000 condition_record_support_limited 20 0 9 Hereditary_cancer-predisposing_syndrome 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3A human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Leukodystrophy Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 19 19 1.0000 condition_record_support_limited 20 0 19 Leukodystrophy 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR1C condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 19 19 1.0000 condition_record_support_limited 20 19 10 not_provided 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLK human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Prostate cancer Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 19 19 1.0000 condition_record_support_limited 20 0 0 Prostate_cancer 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 19 19 1.0000 condition_record_support_limited 20 0 18 Inborn_genetic_diseases 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPT1 mondo_mondo_0013977_medgen_c4706283_omim_614932_orphanet_319514 Combined oxidative phosphorylation defect type 13 MONDO:MONDO:0013977,MedGen:C4706283,OMIM:614932,Orphanet:319514 19 19 1.0000 condition_record_support_limited 20 0 7 Combined_oxidative_phosphorylation_defect_type_13 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKHD1 human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Polycystic kidney disease Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 19 19 1.0000 condition_record_support_limited 20 0 16 Polycystic_kidney_disease 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PIEZO1 mondo_mondo_0008689_medgen_c4551512_omim_194380_orphanet_3202 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema MONDO:MONDO:0008689,MedGen:C4551512,OMIM:194380,Orphanet:3202 19 19 1.0000 condition_record_support_limited 20 0 14 Dehydrated_hereditary_stomatocytosis_with_or_without_pseudohyperkalemia_and/or_perinatal_edema 120 large_gene_or_donor_burden_stress_case donor_burden_stress PDZD7 mondo_mondo_0033201_medgen_c4693893_omim_618003 Hearing loss, autosomal recessive 57 MONDO:MONDO:0033201,MedGen:C4693893,OMIM:618003 19 19 1.0000 condition_record_support_limited 20 0 9 Hearing_loss,_autosomal_recessive_57 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCARE human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 19 19 1.0000 condition_record_support_limited 20 0 14 Retinitis_pigmentosa 151 compact_adjacent_exon_block_opportunity local_compact_architecture PAX8 mondo_mondo_0024264_medgen_c1869118_omim_218700_orphanet_95712 Hypothyroidism, congenital, nongoitrous, 2 MONDO:MONDO:0024264,MedGen:C1869118,OMIM:218700,Orphanet:95712 19 19 1.0000 condition_record_support_limited 20 0 3 Hypothyroidism,_congenital,_nongoitrous,_2 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTX2 medgen_c5680330_orphanet_98555 Anophthalmia-microphthalmia syndrome MedGen:C5680330,Orphanet:98555 19 19 1.0000 condition_record_support_limited 20 0 4 Anophthalmia-microphthalmia_syndrome 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OSGEP mondo_mondo_0033007_medgen_c4540266_omim_617729 Galloway-Mowat syndrome 3 MONDO:MONDO:0033007,MedGen:C4540266,OMIM:617729 19 19 1.0000 condition_record_support_limited 20 0 10 Galloway-Mowat_syndrome_3 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA1 opa1_related_disorder OPA1-related disorder . 19 19 1.0000 condition_record_support_limited 20 0 13 OPA1-related_disorder 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR2E3 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 19 19 1.0000 condition_record_support_limited 20 0 16 Retinitis_pigmentosa 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NKX6-2 mondo_mondo_0033043_medgen_c4479653_omim_617560_orphanet_527497 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MONDO:MONDO:0033043,MedGen:C4479653,OMIM:617560,Orphanet:527497 19 19 1.0000 condition_record_support_limited 20 0 4 Spastic_ataxia_8,_autosomal_recessive,_with_hypomyelinating_leukodystrophy 23 compact_adjacent_exon_block_opportunity local_compact_architecture NDUFS4 condition_not_provided condition not provided MedGen:C3661900 19 19 1.0000 condition_record_support_limited 20 19 9 not_provided 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTOR condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 19 19 1.0000 condition_record_support_limited 20 19 11 not_provided 52 large_gene_or_donor_burden_stress_case donor_burden_stress MPZ mondo_mondo_0011909_medgen_c1843075_omim_607791_orphanet_100046 Charcot-Marie-Tooth disease dominant intermediate D MONDO:MONDO:0011909,MedGen:C1843075,OMIM:607791,Orphanet:100046 19 19 1.0000 condition_record_support_limited 20 0 15 Charcot-Marie-Tooth_disease_dominant_intermediate_D 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MN1 mondo_mondo_0032908_medgen_c5394044_omim_618774_orphanet_693549 CEBALID syndrome MONDO:MONDO:0032908,MedGen:C5394044,OMIM:618774,Orphanet:693549 19 19 1.0000 condition_record_support_limited 20 0 4 CEBALID_syndrome 29 compact_adjacent_exon_block_opportunity local_compact_architecture MLH1 inherited_mmr_deficiency_lynch_syndrome Inherited MMR deficiency (Lynch syndrome) . 19 19 1.0000 condition_record_support_limited 20 0 16 Inherited_MMR_deficiency_(Lynch_syndrome) 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MKS1 condition_not_provided condition not provided MedGen:C3661900 19 19 1.0000 condition_record_support_limited 20 19 17 not_provided 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCM3AP mondo_mondo_0029131_medgen_c4748283_omim_618124 Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development MONDO:MONDO:0029131,MedGen:C4748283,OMIM:618124 19 19 1.0000 condition_record_support_limited 20 0 2 Peripheral_neuropathy,_autosomal_recessive,_with_or_without_impaired_intellectual_development 107 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LIPA condition_not_provided condition not provided MedGen:C3661900 19 19 1.0000 condition_record_support_limited 20 19 12 not_provided 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LHCGR mondo_mondo_0008303_medgen_c0342549_omim_176410_orphanet_3000 Gonadotropin-independent familial sexual precocity MONDO:MONDO:0008303,MedGen:C0342549,OMIM:176410,Orphanet:3000 19 19 1.0000 condition_record_support_limited 20 0 12 Gonadotropin-independent_familial_sexual_precocity 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KPTN mondo_mondo_0014289_medgen_c3810225_omim_615637_orphanet_397612 Macrocephaly-developmental delay syndrome MONDO:MONDO:0014289,MedGen:C3810225,OMIM:615637,Orphanet:397612 19 19 1.0000 condition_record_support_limited 20 0 4 Macrocephaly-developmental_delay_syndrome 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM3B mondo_mondo_0030012_medgen_c5394263_omim_618846 Diets-Jongmans syndrome MONDO:MONDO:0030012,MedGen:C5394263,OMIM:618846 19 19 1.0000 condition_record_support_limited 20 0 2 Diets-Jongmans_syndrome 41 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KCNQ3 mondo_mondo_0007366_medgen_c1852581_omim_121201_orphanet_1949 Seizures, benign familial neonatal, 2 MONDO:MONDO:0007366,MedGen:C1852581,OMIM:121201,Orphanet:1949 19 19 1.0000 condition_record_support_limited 20 0 11 Seizures,_benign_familial_neonatal,_2 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCND3 mondo_mondo_0011819_medgen_c1846367_omim_607346_orphanet_98772 Spinocerebellar ataxia type 19/22 MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346,Orphanet:98772 19 19 1.0000 condition_record_support_limited 20 0 9 Spinocerebellar_ataxia_type_19/22 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JAK3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 19 19 1.0000 condition_record_support_limited 20 19 14 not_provided 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITPR1 mondo_mondo_0008795_medgen_c0431401_omim_206700_orphanet_1065 Gillespie syndrome MONDO:MONDO:0008795,MedGen:C0431401,OMIM:206700,Orphanet:1065 19 19 1.0000 condition_record_support_limited 20 0 7 Gillespie_syndrome 85 large_gene_or_donor_burden_stress_case donor_burden_stress ITCH mondo_mondo_0013245_medgen_c3150649_omim_613385_orphanet_228426 Syndromic multisystem autoimmune disease due to ITCH deficiency MONDO:MONDO:0013245,MedGen:C3150649,OMIM:613385,Orphanet:228426 19 19 1.0000 condition_record_support_limited 20 0 1 Syndromic_multisystem_autoimmune_disease_due_to_ITCH_deficiency 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INSR mondo_mondo_0009517_medgen_c0265344_omim_246200_orphanet_508 Leprechaunism syndrome MONDO:MONDO:0009517,MedGen:C0265344,OMIM:246200,Orphanet:508 19 19 1.0000 condition_record_support_limited 20 0 2 Leprechaunism_syndrome 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ILDR1 mondo_mondo_0012326_medgen_c1864818_omim_609646_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 42 MONDO:MONDO:0012326,MedGen:C1864818,OMIM:609646,Orphanet:90636 19 19 1.0000 condition_record_support_limited 20 0 7 Autosomal_recessive_nonsyndromic_hearing_loss_42 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HYCC1 mondo_mondo_0012514_medgen_c1864663_omim_610532_orphanet_85163 Hypomyelination and Congenital Cataract MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532,Orphanet:85163 19 19 1.0000 condition_record_support_limited 20 0 2 Hypomyelination_and_Congenital_Cataract 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSD3B7 condition_not_provided condition not provided MedGen:C3661900 19 19 1.0000 condition_record_support_limited 20 19 8 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPS6 mondo_mondo_0019312_medgen_c0079504_omim_ps203300_orphanet_79430 Hermansky-Pudlak syndrome MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430 19 19 1.0000 condition_record_support_limited 20 0 12 Hermansky-Pudlak_syndrome 99 single_exon_hotspot_opportunity local_compact_architecture HBB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 19 19 1.0000 condition_record_support_limited 20 0 19 Inborn_genetic_diseases 428 compact_adjacent_exon_block_opportunity local_compact_architecture GUCA1A mondo_mondo_0011193_medgen_c1865869_omim_602093_orphanet_1872 Cone dystrophy 3 MONDO:MONDO:0011193,MedGen:C1865869,OMIM:602093,Orphanet:1872 19 19 1.0000 condition_record_support_limited 20 0 12 Cone_dystrophy_3 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIP1 condition_not_provided condition not provided MedGen:C3661900 19 19 1.0000 condition_record_support_limited 20 19 3 not_provided 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIA3 mondo_mondo_0010402_medgen_c2678051_omim_300699_orphanet_364028 Syndromic X-linked intellectual disability 94 MONDO:MONDO:0010402,MedGen:C2678051,OMIM:300699,Orphanet:364028 19 19 1.0000 condition_record_support_limited 20 0 5 Syndromic_X-linked_intellectual_disability_94 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPSM2 condition_not_provided condition not provided MedGen:C3661900 19 19 1.0000 condition_record_support_limited 20 19 8 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPHN human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 19 19 1.0000 condition_record_support_limited 20 0 16 Retinitis_pigmentosa 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS mondo_mondo_0018919_medgen_c0242292_omim_174800_orphanet_562 McCune-Albright syndrome MONDO:MONDO:0018919,MedGen:C0242292,OMIM:174800,Orphanet:562 19 19 1.0000 condition_record_support_limited 20 0 16 McCune-Albright_syndrome 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJC2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 19 19 1.0000 condition_record_support_limited 20 19 11 See_cases|not_provided 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 mondo_mondo_0010576_medgen_c1844678_omim_304400_orphanet_383 X-linked mixed hearing loss with perilymphatic gusher MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400,Orphanet:383 19 19 1.0000 condition_record_support_limited 20 0 19 X-linked_mixed_hearing_loss_with_perilymphatic_gusher 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GEMIN5 mondo_mondo_0859152_medgen_c5543427_omim_619333 Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction MONDO:MONDO:0859152,MedGen:C5543427,OMIM:619333 19 19 1.0000 condition_record_support_limited 20 0 3 Neurodevelopmental_disorder_with_cerebellar_atrophy_and_motor_dysfunction 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FUS condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 19 19 1.0000 condition_record_support_limited 20 19 11 not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP2 mondo_mondo_0011184_medgen_c0750927_omim_602081_orphanet_209908 Childhood apraxia of speech MONDO:MONDO:0011184,MedGen:C0750927,OMIM:602081,Orphanet:209908 19 19 1.0000 condition_record_support_limited 20 0 7 Childhood_apraxia_of_speech 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLNA flna_related_disorder FLNA-related disorder . 19 19 1.0000 condition_record_support_limited 20 0 4 FLNA-related_disorder 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLAD1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 19 19 1.0000 condition_record_support_limited 20 19 3 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKBP14 mondo_mondo_0013800_medgen_c3281160_omim_614557_orphanet_300179 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MONDO:MONDO:0013800,MedGen:C3281160,OMIM:614557,Orphanet:300179 19 19 1.0000 condition_record_support_limited 20 0 2 Ehlers-Danlos_syndrome,_kyphoscoliotic_type,_2 20 compact_adjacent_exon_block_opportunity local_compact_architecture FGFR2 fgfr2_related_disorder FGFR2-related disorder MedGen:CN380096 19 19 1.0000 condition_record_support_limited 20 0 18 FGFR2-related_disorder 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGF3 mondo_mondo_0012541_medgen_c1853144_omim_610706_orphanet_90024 Deafness with labyrinthine aplasia, microtia, and microdontia MONDO:MONDO:0012541,MedGen:C1853144,OMIM:610706,Orphanet:90024 19 19 1.0000 condition_record_support_limited 20 0 4 Deafness_with_labyrinthine_aplasia,_microtia,_and_microdontia 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBN2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 19 19 1.0000 condition_record_support_limited 20 19 5 not_provided 122 large_gene_or_donor_burden_stress_case donor_burden_stress FANCI condition_not_provided condition not provided MedGen:C3661900 19 19 1.0000 condition_record_support_limited 20 19 13 not_provided 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F9 mondo_mondo_0010602_medgen_c0019069_omim_306700_orphanet_98878 Hereditary factor VIII deficiency disease MONDO:MONDO:0010602,MedGen:C0019069,OMIM:306700,Orphanet:98878 19 19 1.0000 condition_record_support_limited 20 0 14 Hereditary_factor_VIII_deficiency_disease 299 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC6 mondo_mondo_0016006_medgen_c0009207_orphanet_191 Cockayne syndrome MONDO:MONDO:0016006,MedGen:C0009207,Orphanet:191 19 19 1.0000 condition_record_support_limited 20 0 17 Cockayne_syndrome 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC2 mondo_mondo_0019600_medgen_c0043346_orphanet_910 Xeroderma pigmentosum MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910 19 19 1.0000 condition_record_support_limited 20 0 19 Xeroderma_pigmentosum 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENPP1 mondo_mondo_0019182_medgen_c4054476_omim_601665_orphanet_77828 Inherited obesity MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828 19 19 1.0000 condition_record_support_limited 20 0 19 Inherited_obesity 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2B2 mondo_mondo_0800448_medgen_c1858991_omim_ps603896_orphanet_135_orphanet_99853 Vanishing white matter disease MONDO:MONDO:0800448,MedGen:C1858991,OMIM:PS603896,Orphanet:135,Orphanet:99853 19 19 1.0000 condition_record_support_limited 20 0 12 Vanishing_white_matter_disease 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EDAR mondo_mondo_0009147_medgen_c3887494_omim_224900_orphanet_238468_orphanet_248 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive MONDO:MONDO:0009147,MedGen:C3887494,OMIM:224900,Orphanet:238468,Orphanet:248 19 19 1.0000 condition_record_support_limited 20 0 9 Ectodermal_dysplasia_10B,_hypohidrotic/hair/tooth_type,_autosomal_recessive 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ECEL1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 19 19 1.0000 condition_record_support_limited 20 19 9 not_provided 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EARS2 mondo_mondo_0013971_medgen_c4706421_omim_614924_orphanet_314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:MONDO:0013971,MedGen:C4706421,OMIM:614924,Orphanet:314051 19 19 1.0000 condition_record_support_limited 20 0 7 Leukoencephalopathy-thalamus_and_brainstem_anomalies-high_lactate_syndrome 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DVL1 mondo_mondo_0014591_medgen_c4225363_omim_616331_orphanet_3107_orphanet_97360 Autosomal dominant Robinow syndrome 2 MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360 19 19 1.0000 condition_record_support_limited 20 0 3 Autosomal_dominant_Robinow_syndrome_2 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DRC4 mondo_mondo_0014750_medgen_c4225230_omim_616726_orphanet_244 Primary ciliary dyskinesia 33 MONDO:MONDO:0014750,MedGen:C4225230,OMIM:616726,Orphanet:244 19 19 1.0000 condition_record_support_limited 20 0 1 Primary_ciliary_dyskinesia_33 19 low_record_burden_interpretation_limited low_record_burden_gene DRC2 mondo_mondo_0014215_medgen_c3809701_omim_615504_orphanet_244 Primary ciliary dyskinesia 27 MONDO:MONDO:0014215,MedGen:C3809701,OMIM:615504,Orphanet:244 19 19 1.0000 condition_record_support_limited 20 0 2 Primary_ciliary_dyskinesia_27 19 low_record_burden_interpretation_limited low_record_burden_gene DRAM2 condition_not_provided condition not provided MedGen:C3661900 19 19 1.0000 condition_record_support_limited 20 19 4 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAH9 dnah9_related_disorder DNAH9-related disorder . 19 19 1.0000 condition_record_support_limited 20 0 12 DNAH9-related_disorder 157 large_gene_or_donor_burden_stress_case donor_burden_stress DNAAF19 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 19 19 1.0000 condition_record_support_limited 20 0 8 Primary_ciliary_dyskinesia 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLL4 mondo_mondo_0014703_medgen_c4225271_omim_616589_orphanet_974 Adams-Oliver syndrome 6 MONDO:MONDO:0014703,MedGen:C4225271,OMIM:616589,Orphanet:974 19 19 1.0000 condition_record_support_limited 20 0 7 Adams-Oliver_syndrome_6 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDR2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 19 19 1.0000 condition_record_support_limited 20 19 2 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP4F22 condition_not_provided condition not provided MedGen:C3661900 19 19 1.0000 condition_record_support_limited 20 19 12 not_provided 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP21A2 cyp21a2_related_disorder CYP21A2-related disorder . 19 19 1.0000 condition_record_support_limited 20 0 13 CYP21A2-related_disorder 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CWF19L1 mondo_mondo_0014503_medgen_c4015301_omim_616127_orphanet_453521 Autosomal recessive spinocerebellar ataxia 17 MONDO:MONDO:0014503,MedGen:C4015301,OMIM:616127,Orphanet:453521 19 19 1.0000 condition_record_support_limited 20 0 3 Autosomal_recessive_spinocerebellar_ataxia_17 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSF1R mondo_mondo_0800027_medgen_c5561929_omim_221820_orphanet_313808 Leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:MONDO:0800027,MedGen:C5561929,OMIM:221820,Orphanet:313808 19 19 1.0000 condition_record_support_limited 20 0 10 Leukoencephalopathy,_diffuse_hereditary,_with_spheroids_1 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRPPA condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 19 19 1.0000 condition_record_support_limited 20 19 12 not_provided|not_specified 57 compact_adjacent_exon_block_opportunity local_compact_architecture CPAP mondo_mondo_0013358_medgen_c3888212_omim_613676_orphanet_808 Seckel syndrome 4 MONDO:MONDO:0013358,MedGen:C3888212,OMIM:613676,Orphanet:808 19 19 1.0000 condition_record_support_limited 20 0 11 Seckel_syndrome_4 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL5A1 mondo_mondo_0007522_medgen_c4225429_orphanet_287 Ehlers-Danlos syndrome, classic type MONDO:MONDO:0007522,MedGen:C4225429,Orphanet:287 19 19 1.0000 condition_record_support_limited 20 0 10 Ehlers-Danlos_syndrome,_classic_type 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 19 19 1.0000 condition_record_support_limited 20 0 6 Connective_tissue_disorder 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COCH condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 19 19 1.0000 condition_record_support_limited 20 19 10 not_provided|not_specified 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 19 19 1.0000 condition_record_support_limited 20 0 12 Inborn_genetic_diseases 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD63 condition_not_provided condition not provided MedGen:C3661900 19 19 1.0000 condition_record_support_limited 20 19 9 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD3G mondo_mondo_0014276_medgen_c3810107_omim_615607_orphanet_169082 Combined immunodeficiency due to CD3gamma deficiency MONDO:MONDO:0014276,MedGen:C3810107,OMIM:615607,Orphanet:169082 19 19 1.0000 condition_record_support_limited 20 0 3 Combined_immunodeficiency_due_to_CD3gamma_deficiency 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD3E mondo_mondo_0014278_medgen_c3810127_omim_615615 Immunodeficiency 18 MONDO:MONDO:0014278,MedGen:C3810127,OMIM:615615 19 19 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency_18 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASR casr_related_disorder CASR-related disorder . 19 19 1.0000 condition_record_support_limited 20 0 12 CASR-related_disorder 313 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNA1S mondo_mondo_0008570_medgen_c2749982_omim_188580_orphanet_79102 Thyrotoxic periodic paralysis, susceptibility to, 1 MONDO:MONDO:0008570,MedGen:C2749982,OMIM:188580,Orphanet:79102 19 19 1.0000 condition_record_support_limited 20 0 19 Thyrotoxic_periodic_paralysis,_susceptibility_to,_1 126 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1F human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 19 19 1.0000 condition_record_support_limited 20 0 10 Retinal_dystrophy 189 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1E condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 19 19 1.0000 condition_record_support_limited 20 19 10 not_provided 33 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture C2CD3 mondo_mondo_0014413_medgen_c4706604_omim_615948_orphanet_434179 Orofaciodigital syndrome type 14 MONDO:MONDO:0014413,MedGen:C4706604,OMIM:615948,Orphanet:434179 19 19 1.0000 condition_record_support_limited 20 0 10 Orofaciodigital_syndrome_type_14 82 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BRCA1 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 19 19 1.0000 condition_record_support_limited 20 0 14 Ovarian_cancer 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BICD2 mondo_mondo_0014121_medgen_c4747715_omim_615290_orphanet_363447_orphanet_363454 Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures MONDO:MONDO:0014121,MedGen:C4747715,OMIM:615290,Orphanet:363447,Orphanet:363454 19 19 1.0000 condition_record_support_limited 20 0 5 Autosomal_dominant_childhood-onset_proximal_spinal_muscular_atrophy_with_contractures 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 19 19 1.0000 condition_record_support_limited 20 0 14 Retinal_dystrophy 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP8B1 mondo_mondo_0007829_medgen_c3549845_omim_147480_orphanet_69665 Cholestasis, intrahepatic, of pregnancy, 1 MONDO:MONDO:0007829,MedGen:C3549845,OMIM:147480,Orphanet:69665 19 19 1.0000 condition_record_support_limited 20 0 15 Cholestasis,_intrahepatic,_of_pregnancy,_1 131 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATF6 mondo_mondo_0014677_medgen_c4225297_omim_616517_orphanet_49382 Achromatopsia 7 MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517,Orphanet:49382 19 19 1.0000 condition_record_support_limited 20 0 7 Achromatopsia_7 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 19 19 1.0000 condition_record_support_limited 20 0 9 Inborn_genetic_diseases 234 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASXL2 mondo_mondo_0014963_medgen_c4310672_omim_617190_orphanet_689408 Shashi-Pena syndrome MONDO:MONDO:0014963,MedGen:C4310672,OMIM:617190,Orphanet:689408 19 19 1.0000 condition_record_support_limited 20 0 0 Shashi-Pena_syndrome 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASTN2 condition_not_provided condition not provided MedGen:C3661900 19 19 1.0000 condition_record_support_limited 20 19 10 not_provided 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOB medgen_c1862596 Familial hypobetalipoproteinemia MedGen:C1862596 19 19 1.0000 condition_record_support_limited 20 0 9 Familial_hypobetalipoproteinemia 248 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANK1 ank1_related_disorder ANK1-related disorder . 19 19 1.0000 condition_record_support_limited 20 0 9 ANK1-related_disorder 497 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALG1 condition_not_provided condition not provided MedGen:C3661900 19 19 1.0000 condition_record_support_limited 20 19 17 not_provided 120 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACO2 mondo_mondo_0013802_medgen_c3281192_omim_614559_orphanet_313850 Infantile cerebellar-retinal degeneration MONDO:MONDO:0013802,MedGen:C3281192,OMIM:614559,Orphanet:313850 19 19 1.0000 condition_record_support_limited 20 0 2 Infantile_cerebellar-retinal_degeneration 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABHD12 mondo_mondo_0012984_medgen_c2675204_omim_612674_orphanet_171848 PHARC syndrome MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674,Orphanet:171848 19 19 1.0000 condition_record_support_limited 20 0 6 PHARC_syndrome 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCG5 mondo_mondo_0020748_medgen_c5231453_omim_618666 Sitosterolemia 2 MONDO:MONDO:0020748,MedGen:C5231453,OMIM:618666 19 19 1.0000 condition_record_support_limited 20 0 11 Sitosterolemia_2 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF148 mondo_mondo_0014994_medgen_c4310644_omim_617260 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies MONDO:MONDO:0014994,MedGen:C4310644,OMIM:617260 18 18 1.0000 condition_record_support_limited 20 0 3 Global_developmental_delay,_absent_or_hypoplastic_corpus_callosum,_and_dysmorphic_facies 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZEB1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 18 18 1.0000 condition_record_support_limited 20 18 4 not_provided 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZDHHC24 condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 17 not_provided 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XRCC4 mondo_mondo_0014686_medgen_c4225288_omim_616541_orphanet_436182 Short stature, microcephaly, and endocrine dysfunction MONDO:MONDO:0014686,MedGen:C4225288,OMIM:616541,Orphanet:436182 18 18 1.0000 condition_record_support_limited 20 0 7 Short_stature,_microcephaly,_and_endocrine_dysfunction 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XPNPEP3 mondo_mondo_0013163_medgen_c3150419_omim_613159_orphanet_655 Nephronophthisis-like nephropathy 1 MONDO:MONDO:0013163,MedGen:C3150419,OMIM:613159,Orphanet:655 18 18 1.0000 condition_record_support_limited 20 0 0 Nephronophthisis-like_nephropathy_1 19 low_record_burden_interpretation_limited low_record_burden_gene WNT10A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 18 18 1.0000 condition_record_support_limited 20 18 17 not_provided|not_specified 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VSX2 human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Microphthalmia Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 18 18 1.0000 condition_record_support_limited 20 0 9 Microphthalmia 52 compact_adjacent_exon_block_opportunity local_compact_architecture VHL human_phenotype_ontology_hp_0002666_mondo_mondo_0008233_medgen_c0031511_omim_171300_orphanet_29072 Pheochromocytoma Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072 18 18 1.0000 condition_record_support_limited 20 0 15 Pheochromocytoma 432 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control USB1 mondo_mondo_0011405_medgen_c1858723_omim_604173_orphanet_221046 Poikiloderma with neutropenia MONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173,Orphanet:221046 18 18 1.0000 condition_record_support_limited 20 0 9 Poikiloderma_with_neutropenia 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TYRP1 medgen_c2677086_omim_612271 MELANESIAN BLOND HAIR MedGen:C2677086,OMIM:612271 18 18 1.0000 condition_record_support_limited 20 0 18 MELANESIAN_BLOND_HAIR 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSPAN12 mondo_mondo_0013218_medgen_c2750079_omim_613310_orphanet_891 Exudative vitreoretinopathy 5 MONDO:MONDO:0013218,MedGen:C2750079,OMIM:613310,Orphanet:891 18 18 1.0000 condition_record_support_limited 20 0 8 Exudative_vitreoretinopathy_5 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPM6 condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 5 not_provided 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRAPPC2 condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 4 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAF3IP2 mondo_mondo_0014230_medgen_c3714992_omim_615527_orphanet_1334 Candidiasis, familial, 8 MONDO:MONDO:0014230,MedGen:C3714992,OMIM:615527,Orphanet:1334 18 18 1.0000 condition_record_support_limited 20 0 0 Candidiasis,_familial,_8 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPRN condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 5 not_provided 33 compact_adjacent_exon_block_opportunity local_compact_architecture TP53 mondo_mondo_0010150_mesh_d000077195_medgen_c1168401_omim_275355_orphanet_67037 Squamous cell carcinoma of the head and neck MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037 18 18 1.0000 condition_record_support_limited 20 0 17 Squamous_cell_carcinoma_of_the_head_and_neck 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 human_phenotype_ontology_hp_0002889_human_phenotype_ontology_hp_0006744_human_phenotype_ontology_hp_0006759_mondo_mondo_0006639_mesh_d018268_medgen_c0206686_orphanet_1501 Adrenal cortex carcinoma Human_Phenotype_Ontology:HP:0002889,Human_Phenotype_Ontology:HP:0006744,Human_Phenotype_Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501 18 18 1.0000 condition_record_support_limited 20 0 17 Adrenal_cortex_carcinoma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TNNI3 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 18 18 1.0000 condition_record_support_limited 20 0 17 Cardiovascular_phenotype 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMPRSS6 mondo_mondo_0008788_medgen_c0085576_omim_206200_orphanet_209981 Iron-refractory iron deficiency anemia MONDO:MONDO:0008788,MedGen:C0085576,OMIM:206200,Orphanet:209981 18 18 1.0000 condition_record_support_limited 20 0 6 Iron-refractory_iron_deficiency_anemia 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TELO2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 18 18 1.0000 condition_record_support_limited 20 18 3 not_provided|not_specified 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAOK1 condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 6 not_provided 72 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TANGO2 mondo_mondo_0018820_medgen_c5567524_omim_616878_orphanet_480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome MONDO:MONDO:0018820,MedGen:C5567524,OMIM:616878,Orphanet:480864 18 18 1.0000 condition_record_support_limited 20 0 13 Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNE4 mondo_mondo_0014237_medgen_c3147083_omim_615540_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 76 MONDO:MONDO:0014237,MedGen:C3147083,OMIM:615540,Orphanet:90636 18 18 1.0000 condition_record_support_limited 20 0 12 Autosomal_recessive_nonsyndromic_hearing_loss_76 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAT3 mondo_mondo_0014414_medgen_c4014795_omim_615952_orphanet_438159 STAT3-related early-onset multisystem autoimmune disease MONDO:MONDO:0014414,MedGen:C4014795,OMIM:615952,Orphanet:438159 18 18 1.0000 condition_record_support_limited 20 0 8 STAT3-related_early-onset_multisystem_autoimmune_disease 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPTBN2 mondo_mondo_0010848_medgen_c0752123_omim_600224_orphanet_98766 Spinocerebellar ataxia type 5 MONDO:MONDO:0010848,MedGen:C0752123,OMIM:600224,Orphanet:98766 18 18 1.0000 condition_record_support_limited 20 0 6 Spinocerebellar_ataxia_type_5 56 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTBN1 condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 4 not_provided 59 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SP140 mondo_mondo_0009338_medgen_c1856128_omim_235550_orphanet_79124 Hepatic veno-occlusive disease-immunodeficiency syndrome MONDO:MONDO:0009338,MedGen:C1856128,OMIM:235550,Orphanet:79124 18 18 1.0000 condition_record_support_limited 20 0 2 Hepatic_veno-occlusive_disease-immunodeficiency_syndrome 18 low_record_burden_interpretation_limited low_record_burden_gene SOX6 mondo_mondo_0033544_medgen_c5436509_omim_618971 Tolchin-Le Caignec syndrome MONDO:MONDO:0033544,MedGen:C5436509,OMIM:618971 18 18 1.0000 condition_record_support_limited 20 0 7 Tolchin-Le_Caignec_syndrome 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SON mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 18 18 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 148 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SNX14 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 18 18 1.0000 condition_record_support_limited 20 18 7 not_provided 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNAP29 condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 5 not_provided 22 compact_adjacent_exon_block_opportunity local_compact_architecture SMAD6 mondo_mondo_0013902_medgen_c3542024_omim_614823 Aortic valve disease 2 MONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823 18 18 1.0000 condition_record_support_limited 20 0 7 Aortic_valve_disease_2 82 compact_adjacent_exon_block_opportunity local_compact_architecture SLC25A1 condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 7 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC22A12 mondo_mondo_0020728_medgen_c0473219_omim_220150 Dalmatian hypouricemia MONDO:MONDO:0020728,MedGen:C0473219,OMIM:220150 18 18 1.0000 condition_record_support_limited 20 0 8 Dalmatian_hypouricemia 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SIX1 mondo_mondo_0012025_medgen_c1842124_omim_608389 Branchiootic syndrome 3 MONDO:MONDO:0012025,MedGen:C1842124,OMIM:608389 18 18 1.0000 condition_record_support_limited 20 0 10 Branchiootic_syndrome_3 25 compact_adjacent_exon_block_opportunity local_compact_architecture SGCG condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 17 not_provided 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SF3B4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 18 18 1.0000 condition_record_support_limited 20 18 7 not_provided 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD1A condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 5 not_provided 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SDHB mondo_mondo_0011740_medgen_c1847319_omim_606864_orphanet_97286 Carney-Stratakis syndrome MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286 18 18 1.0000 condition_record_support_limited 20 0 18 Carney-Stratakis_syndrome 280 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SCNN1A condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 6 not_provided 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN1A mondo_mondo_0011416_medgen_c1858672_omim_604233_orphanet_36387 Generalized epilepsy with febrile seizures plus, type 1 MONDO:MONDO:0011416,MedGen:C1858672,OMIM:604233,Orphanet:36387 18 18 1.0000 condition_record_support_limited 20 0 16 Generalized_epilepsy_with_febrile_seizures_plus,_type_1 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCAF4 mondo_mondo_0957787_medgen_c5882693_omim_620511 Fliedner-Zweier syndrome MONDO:MONDO:0957787,MedGen:C5882693,OMIM:620511 18 18 1.0000 condition_record_support_limited 20 0 4 Fliedner-Zweier_syndrome 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SAMD9 mondo_mondo_0014888_medgen_c4284088_omim_617053_orphanet_494433 MIRAGE syndrome MONDO:MONDO:0014888,MedGen:C4284088,OMIM:617053,Orphanet:494433 18 18 1.0000 condition_record_support_limited 20 0 7 MIRAGE_syndrome 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RYR1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 18 18 1.0000 condition_record_support_limited 20 0 16 Inborn_genetic_diseases 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 Centronuclear myopathy MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 18 18 1.0000 condition_record_support_limited 20 0 12 Centronuclear_myopathy 770 large_gene_or_donor_burden_stress_case donor_burden_stress RNF14 mondo_mondo_0009625_medgen_c4538630_omim_251280 Diencephalic-mesencephalic junction dysplasia syndrome 1 MONDO:MONDO:0009625,MedGen:C4538630,OMIM:251280 18 18 1.0000 condition_record_support_limited 20 0 6 Diencephalic-mesencephalic_junction_dysplasia_syndrome_1 31 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RFXAP mondo_mondo_0008855_medgen_c5447452_omim_ps209920_orphanet_572 MHC class II deficiency MONDO:MONDO:0008855,MedGen:C5447452,OMIM:PS209920,Orphanet:572 18 18 1.0000 condition_record_support_limited 20 0 4 MHC_class_II_deficiency 27 compact_adjacent_exon_block_opportunity local_compact_architecture RB1 mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 18 18 1.0000 condition_record_support_limited 20 0 15 Malignant_tumor_of_urinary_bladder 947 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAPSN condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 18 18 1.0000 condition_record_support_limited 20 18 17 not_provided 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB33A medgen_c1845095_omim_300614_orphanet_139583 Deafness, X-linked 5 MedGen:C1845095,OMIM:300614,Orphanet:139583 18 18 1.0000 condition_record_support_limited 20 0 4 Deafness,_X-linked_5 47 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture PYGL condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 18 18 1.0000 condition_record_support_limited 20 18 7 not_provided 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSAP mondo_mondo_0859183_medgen_c5561969_omim_619491 Parkinson disease 24, autosomal dominant, susceptibility to MONDO:MONDO:0859183,MedGen:C5561969,OMIM:619491 18 18 1.0000 condition_record_support_limited 20 0 16 Parkinson_disease_24,_autosomal_dominant,_susceptibility_to 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSAP mondo_mondo_0012517_medgen_c1864651_omim_610539_orphanet_309252_orphanet_355 Gaucher disease due to saposin C deficiency MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539,Orphanet:309252,Orphanet:355 18 18 1.0000 condition_record_support_limited 20 0 15 Gaucher_disease_due_to_saposin_C_deficiency 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRX mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 18 18 1.0000 condition_record_support_limited 20 0 12 Charcot-Marie-Tooth_disease 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROC human_phenotype_ontology_hp_0005543_mesh_d020151_medgen_c0398625 Reduced protein C activity Human_Phenotype_Ontology:HP:0005543,MeSH:D020151,MedGen:C0398625 18 18 1.0000 condition_record_support_limited 20 0 8 Reduced_protein_C_activity 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKCSH condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 6 not_provided 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKCD mondo_mondo_8000024_medgen_c3809928_omim_615559_orphanet_3261_orphanet_664711 Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD MONDO:MONDO:8000024,MedGen:C3809928,OMIM:615559,Orphanet:3261,Orphanet:664711 18 18 1.0000 condition_record_support_limited 20 0 0 Autoimmune_lymphoproliferative_syndrome,_type_III_caused_by_mutation_in_PRKCD 18 low_record_burden_interpretation_limited low_record_burden_gene PPOX mondo_mondo_0008297_medgen_c0162532_omim_176200_orphanet_79473 Variegate porphyria MONDO:MONDO:0008297,MedGen:C0162532,OMIM:176200,Orphanet:79473 18 18 1.0000 condition_record_support_limited 20 0 7 Variegate_porphyria 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 18 18 1.0000 condition_record_support_limited 20 0 16 Mitochondrial_disease 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLE mondo_mondo_0014038_medgen_c3554460_omim_615083_orphanet_220460 Colorectal cancer, susceptibility to, 12 MONDO:MONDO:0014038,MedGen:C3554460,OMIM:615083,Orphanet:220460 18 18 1.0000 condition_record_support_limited 20 0 8 Colorectal_cancer,_susceptibility_to,_12 487 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture POC1A mondo_mondo_0013894_medgen_c3542022_omim_614813_orphanet_314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome MONDO:MONDO:0013894,MedGen:C3542022,OMIM:614813,Orphanet:314394 18 18 1.0000 condition_record_support_limited 20 0 5 Short_stature-onychodysplasia-facial_dysmorphism-hypotrichosis_syndrome 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA8 mondo_mondo_0016825_medgen_c1855033_omim_251950_orphanet_2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:MONDO:0016825,MedGen:C1855033,OMIM:251950,Orphanet:2597 18 18 1.0000 condition_record_support_limited 20 0 5 Mitochondrial_myopathy-lactic_acidosis-deafness_syndrome 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA6 mondo_mondo_0008980_medgen_c1859093_omim_215470_orphanet_1180 Ataxia-hypogonadism-choroidal dystrophy syndrome MONDO:MONDO:0008980,MedGen:C1859093,OMIM:215470,Orphanet:1180 18 18 1.0000 condition_record_support_limited 20 0 11 Ataxia-hypogonadism-choroidal_dystrophy_syndrome 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNKP mondo_mondo_0013254_medgen_c3150667_omim_613402_orphanet_1934 Microcephaly, seizures, and developmental delay MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402,Orphanet:1934 18 18 1.0000 condition_record_support_limited 20 0 10 Microcephaly,_seizures,_and_developmental_delay 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMM2 pmm2_related_disorder PMM2-related disorder . 18 18 1.0000 condition_record_support_limited 20 0 18 PMM2-related_disorder 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLPBP condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 7 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA pik3ca_related_disorder PIK3CA-related disorder . 18 18 1.0000 condition_record_support_limited 20 0 15 PIK3CA-related_disorder 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGO condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 13 not_provided 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF6 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 18 18 1.0000 condition_record_support_limited 20 18 7 See_cases|not_provided 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX12 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 18 18 1.0000 condition_record_support_limited 20 18 14 not_provided 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX10 mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 Peroxisome biogenesis disorder MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 18 18 1.0000 condition_record_support_limited 20 0 15 Peroxisome_biogenesis_disorder 142 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCDH19 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 18 18 1.0000 condition_record_support_limited 20 0 10 Inborn_genetic_diseases 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH12 mondo_mondo_0009625_medgen_c4538630_omim_251280 Diencephalic-mesencephalic junction dysplasia syndrome 1 MONDO:MONDO:0009625,MedGen:C4538630,OMIM:251280 18 18 1.0000 condition_record_support_limited 20 0 6 Diencephalic-mesencephalic_junction_dysplasia_syndrome_1 31 compact_adjacent_exon_block_opportunity local_compact_architecture PBX1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 18 18 1.0000 condition_record_support_limited 20 18 8 See_cases|not_provided 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OSGEP condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 18 18 1.0000 condition_record_support_limited 20 18 9 not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPTN condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 10 not_provided 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OFD1 mondo_mondo_0010431_medgen_c2749019_omim_300804_orphanet_2754 Joubert syndrome 10 MONDO:MONDO:0010431,MedGen:C2749019,OMIM:300804,Orphanet:2754 18 18 1.0000 condition_record_support_limited 20 0 10 Joubert_syndrome_10 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NOTCH3 mondo_mondo_0014122_medgen_c3809084_omim_615293_orphanet_2591 Myofibromatosis, infantile, 2 MONDO:MONDO:0014122,MedGen:C3809084,OMIM:615293,Orphanet:2591 18 18 1.0000 condition_record_support_limited 20 0 18 Myofibromatosis,_infantile,_2 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOG condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 18 18 1.0000 condition_record_support_limited 20 18 5 not_provided 50 single_exon_hotspot_opportunity local_compact_architecture NNT mondo_mondo_0013874_medgen_c3553587_omim_614736_orphanet_361 Glucocorticoid deficiency 4 MONDO:MONDO:0013874,MedGen:C3553587,OMIM:614736,Orphanet:361 18 18 1.0000 condition_record_support_limited 20 0 1 Glucocorticoid_deficiency_4 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NARS2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 18 18 1.0000 condition_record_support_limited 20 18 8 not_provided 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYH3 myh3_related_disorder MYH3-related disorder MedGen:CN239329 18 18 1.0000 condition_record_support_limited 20 0 8 MYH3-related_disorder 124 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH14 condition_not_provided condition not provided .|MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 2 See_cases|not_provided 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYEF2 condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 4 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MVK mondo_mondo_0009614_medgen_c1855102_omim_251110_orphanet_28_orphanet_79311 Methylmalonic aciduria, cblB type MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311 18 18 1.0000 condition_record_support_limited 20 0 1 Methylmalonic_aciduria,_cblB_type 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSH2 msh2_related_disorder MSH2-related disorder . 18 18 1.0000 condition_record_support_limited 20 0 17 MSH2-related_disorder 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MNX1 mondo_mondo_0008305_medgen_c1531773_omim_176450_orphanet_1552 Currarino triad MONDO:MONDO:0008305,MedGen:C1531773,OMIM:176450,Orphanet:1552 18 18 1.0000 condition_record_support_limited 20 0 1 Currarino_triad 50 compact_adjacent_exon_block_opportunity local_compact_architecture MC4R mc4r_related_disorder MC4R-related disorder . 18 18 1.0000 condition_record_support_limited 20 0 15 MC4R-related_disorder 59 single_exon_hotspot_opportunity local_compact_architecture LRRK1 condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 0 not_provided 24 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LRP5 medgen_c1866079_omim_601884 Bone mineral density quantitative trait locus 1 MedGen:C1866079,OMIM:601884 18 18 1.0000 condition_record_support_limited 20 0 18 Bone_mineral_density_quantitative_trait_locus_1 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMNA mondo_mondo_0009557_medgen_c5399785_omim_248370_orphanet_2457_orphanet_90153 Mandibuloacral dysplasia with type A lipodystrophy MONDO:MONDO:0009557,MedGen:C5399785,OMIM:248370,Orphanet:2457,Orphanet:90153 18 18 1.0000 condition_record_support_limited 20 0 17 Mandibuloacral_dysplasia_with_type_A_lipodystrophy 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA mondo_mondo_0011569_medgen_c1854154_omim_605588_orphanet_98856 Charcot-Marie-Tooth disease type 2B1 MONDO:MONDO:0011569,MedGen:C1854154,OMIM:605588,Orphanet:98856 18 18 1.0000 condition_record_support_limited 20 0 18 Charcot-Marie-Tooth_disease_type_2B1 536 compact_adjacent_exon_block_opportunity local_compact_architecture KMT2E mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 18 18 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 136 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KCNQ5 mondo_mondo_0030911_medgen_c4539851_omim_617601 Intellectual disability, autosomal dominant 46 MONDO:MONDO:0030911,MedGen:C4539851,OMIM:617601 18 18 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability,_autosomal_dominant_46 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ3 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 18 18 1.0000 condition_record_support_limited 20 18 9 See_cases|not_provided 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNA2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 18 18 1.0000 condition_record_support_limited 20 18 11 not_provided 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGB2 condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 12 not_provided 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IPO8 mondo_mondo_0859177_medgen_c5561955_omim_619472 VISS syndrome MONDO:MONDO:0859177,MedGen:C5561955,OMIM:619472 18 18 1.0000 condition_record_support_limited 20 0 13 VISS_syndrome 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGSF1 mondo_mondo_0010475_medgen_c3550963_omim_300888_orphanet_329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement MONDO:MONDO:0010475,MedGen:C3550963,OMIM:300888,Orphanet:329235 18 18 1.0000 condition_record_support_limited 20 0 3 X-linked_central_congenital_hypothyroidism_with_late-onset_testicular_enlargement 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFNGR1 mondo_mondo_0008856_medgen_c4011949_omim_209950_orphanet_319569_orphanet_99898 Immunodeficiency 27A MONDO:MONDO:0008856,MedGen:C4011949,OMIM:209950,Orphanet:319569,Orphanet:99898 18 18 1.0000 condition_record_support_limited 20 0 3 Immunodeficiency_27A 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDH3B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 18 18 1.0000 condition_record_support_limited 20 18 2 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPGD condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 9 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HADHB mondo_mondo_0958185_medgen_c5830374_omim_620300 Mitochondrial trifunctional protein deficiency 2 MONDO:MONDO:0958185,MedGen:C5830374,OMIM:620300 18 18 1.0000 condition_record_support_limited 20 0 11 Mitochondrial_trifunctional_protein_deficiency_2 101 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 18 18 1.0000 condition_record_support_limited 20 0 13 Intellectual_disability 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 18 18 1.0000 condition_record_support_limited 20 0 9 Inborn_genetic_diseases 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAT2 mondo_mondo_0013465_medgen_c1841721_omim_613856_orphanet_49382 Achromatopsia 4 MONDO:MONDO:0013465,MedGen:C1841721,OMIM:613856,Orphanet:49382 18 18 1.0000 condition_record_support_limited 20 0 7 Achromatopsia_4 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAA gaa_related_disorder GAA-related disorder . 18 18 1.0000 condition_record_support_limited 20 0 18 GAA-related_disorder 739 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 18 18 1.0000 condition_record_support_limited 20 0 12 Inborn_genetic_diseases 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXN1 mondo_mondo_0032928_medgen_c5394133_omim_618806_orphanet_676039 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant MONDO:MONDO:0032928,MedGen:C5394133,OMIM:618806,Orphanet:676039 18 18 1.0000 condition_record_support_limited 20 0 16 T-cell_lymphopenia,_infantile,_with_or_without_nail_dystrophy,_autosomal_dominant 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXG1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 18 18 1.0000 condition_record_support_limited 20 0 14 Inborn_genetic_diseases 278 single_exon_hotspot_opportunity local_compact_architecture FNIP1 condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 1 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FIG4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 18 18 1.0000 condition_record_support_limited 20 0 16 Inborn_genetic_diseases 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAM161A human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 18 18 1.0000 condition_record_support_limited 20 0 15 Retinitis_pigmentosa 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA1 mondo_mondo_0024532_medgen_c3714941_omim_166780 Otofaciocervical syndrome 1 MONDO:MONDO:0024532,MedGen:C3714941,OMIM:166780 18 18 1.0000 condition_record_support_limited 20 0 17 Otofaciocervical_syndrome_1 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERF human_phenotype_ontology_hp_0004443_human_phenotype_ontology_hp_0004486_medgen_c1833340 Lambdoidal craniosynostosis Human_Phenotype_Ontology:HP:0004443,Human_Phenotype_Ontology:HP:0004486,MedGen:C1833340 18 18 1.0000 condition_record_support_limited 20 0 10 Lambdoidal_craniosynostosis 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 18 18 1.0000 condition_record_support_limited 20 18 10 not_provided|not_specified 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC3 mondo_mondo_0014615_medgen_c4225344_omim_616390_orphanet_33364 Trichothiodystrophy 2, photosensitive MONDO:MONDO:0014615,MedGen:C4225344,OMIM:616390,Orphanet:33364 18 18 1.0000 condition_record_support_limited 20 0 17 Trichothiodystrophy_2,_photosensitive 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPB41 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 18 18 1.0000 condition_record_support_limited 20 18 5 not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EDA mondo_mondo_0010741_medgen_c1970757_omim_313500_orphanet_99798 Tooth agenesis, selective, X-linked, 1 MONDO:MONDO:0010741,MedGen:C1970757,OMIM:313500,Orphanet:99798 18 18 1.0000 condition_record_support_limited 20 0 16 Tooth_agenesis,_selective,_X-linked,_1 276 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBF3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 18 18 1.0000 condition_record_support_limited 20 0 8 Inborn_genetic_diseases 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYRK1A mondo_mondo_0100038_medgen_c5568766_orphanet_528084 Complex neurodevelopmental disorder MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 18 18 1.0000 condition_record_support_limited 20 0 17 Complex_neurodevelopmental_disorder 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DST condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 18 18 1.0000 condition_record_support_limited 20 18 9 not_provided 196 large_gene_or_donor_burden_stress_case donor_burden_stress DSG2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 18 18 1.0000 condition_record_support_limited 20 0 10 Cardiovascular_phenotype 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSC2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 18 18 1.0000 condition_record_support_limited 20 0 10 Cardiovascular_phenotype 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DPYD condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 14 not_provided 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOCK7 condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 5 not_provided 111 large_gene_or_donor_burden_stress_case donor_burden_stress DNMT3A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 18 18 1.0000 condition_record_support_limited 20 0 10 Inborn_genetic_diseases 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 18 18 1.0000 condition_record_support_limited 20 18 16 not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJC21 mondo_mondo_0014887_medgen_c4310744_omim_617052 Bone marrow failure syndrome 3 MONDO:MONDO:0014887,MedGen:C4310744,OMIM:617052 18 18 1.0000 condition_record_support_limited 20 0 9 Bone_marrow_failure_syndrome_3 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCDC2 mondo_mondo_0012442_medgen_c1857750_omim_610212_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 66 MONDO:MONDO:0012442,MedGen:C1857750,OMIM:610212,Orphanet:90636 18 18 1.0000 condition_record_support_limited 20 0 17 Autosomal_recessive_nonsyndromic_hearing_loss_66 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP2U1 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 18 18 1.0000 condition_record_support_limited 20 0 9 Spastic_paraplegia 51 compact_adjacent_exon_block_opportunity local_compact_architecture CYP17A1 human_phenotype_ontology_hp_0008258_mondo_mondo_0018479_medgen_c0001627_orphanet_418 Congenital adrenal hyperplasia Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418 18 18 1.0000 condition_record_support_limited 20 0 17 Congenital_adrenal_hyperplasia 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP17A1 mondo_mondo_0800379_medgen_cn042980 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete MONDO:MONDO:0800379,MedGen:CN042980 18 18 1.0000 condition_record_support_limited 20 0 12 17-alpha-hydroxylase/17,20-lyase_deficiency,_combined_complete 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL3 mondo_mondo_0013782_medgen_c3469606_omim_614496_orphanet_300530_orphanet_757 Pseudohypoaldosteronism type 2E MONDO:MONDO:0013782,MedGen:C3469606,OMIM:614496,Orphanet:300530,Orphanet:757 18 18 1.0000 condition_record_support_limited 20 0 13 Pseudohypoaldosteronism_type_2E 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNS condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 16 not_provided 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CP mondo_mondo_0019312_medgen_c0079504_omim_ps203300_orphanet_79430 Hermansky-Pudlak syndrome MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430 18 18 1.0000 condition_record_support_limited 20 0 16 Hermansky-Pudlak_syndrome 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COG1 mondo_mondo_0012637_medgen_c2931011_omim_611209_orphanet_263508 COG1 congenital disorder of glycosylation MONDO:MONDO:0012637,MedGen:C2931011,OMIM:611209,Orphanet:263508 18 18 1.0000 condition_record_support_limited 20 0 2 COG1_congenital_disorder_of_glycosylation 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHD5 mondo_mondo_0859249_medgen_c5676984_omim_619873 Parenti-mignot neurodevelopmental syndrome MONDO:MONDO:0859249,MedGen:C5676984,OMIM:619873 18 18 1.0000 condition_record_support_limited 20 0 5 Parenti-mignot_neurodevelopmental_syndrome 39 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHAT condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 18 18 1.0000 condition_record_support_limited 20 18 13 See_cases|not_provided|not_specified 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP92 condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 10 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP92 mondo_mondo_0012624_medgen_c4747517_omim_611126_orphanet_99901 Acyl-CoA dehydrogenase 9 deficiency MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126,Orphanet:99901 18 18 1.0000 condition_record_support_limited 20 0 10 Acyl-CoA_dehydrogenase_9_deficiency 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEBPA condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 4 not_provided 67 single_exon_hotspot_opportunity local_compact_architecture CC2D1A mondo_mondo_0012037_medgen_c1838023_omim_608443_orphanet_88616 Intellectual disability, autosomal recessive 3 MONDO:MONDO:0012037,MedGen:C1838023,OMIM:608443,Orphanet:88616 18 18 1.0000 condition_record_support_limited 20 0 8 Intellectual_disability,_autosomal_recessive_3 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASK mondo_mondo_0010318_medgen_c1845546_omim_300422 FG syndrome 4 MONDO:MONDO:0010318,MedGen:C1845546,OMIM:300422 18 18 1.0000 condition_record_support_limited 20 0 14 FG_syndrome_4 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAMK2A mondo_mondo_0030919_medgen_c4540481_omim_617798 Intellectual disability, autosomal dominant 53 MONDO:MONDO:0030919,MedGen:C4540481,OMIM:617798 18 18 1.0000 condition_record_support_limited 20 0 9 Intellectual_disability,_autosomal_dominant_53 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAD mondo_mondo_0014647_medgen_c4225320_omim_616457_orphanet_448010 Developmental and epileptic encephalopathy, 50 MONDO:MONDO:0014647,MedGen:C4225320,OMIM:616457,Orphanet:448010 18 18 1.0000 condition_record_support_limited 20 0 7 Developmental_and_epileptic_encephalopathy,_50 95 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture C1R mondo_mondo_0020684_medgen_c4551499_omim_130080_orphanet_75392 Ehlers-Danlos syndrome, periodontal type 1 MONDO:MONDO:0020684,MedGen:C4551499,OMIM:130080,Orphanet:75392 18 18 1.0000 condition_record_support_limited 20 0 14 Ehlers-Danlos_syndrome,_periodontal_type_1 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA2 mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 18 18 1.0000 condition_record_support_limited 20 0 17 Malignant_tumor_of_urinary_bladder 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BMPR1A mondo_mondo_0008276_medgen_c1868081_orphanet_329971 Generalized juvenile polyposis/juvenile polyposis coli MONDO:MONDO:0008276,MedGen:C1868081,Orphanet:329971 18 18 1.0000 condition_record_support_limited 20 0 10 Generalized_juvenile_polyposis/juvenile_polyposis_coli 295 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BEST1 mondo_mondo_0008662_medgen_c3888099_omim_193220_orphanet_263347_orphanet_3086 Autosomal dominant vitreoretinochoroidopathy MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220,Orphanet:263347,Orphanet:3086 18 18 1.0000 condition_record_support_limited 20 0 16 Autosomal_dominant_vitreoretinochoroidopathy 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BARD1 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 18 18 1.0000 condition_record_support_limited 20 0 12 Gastric_cancer 610 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATR mondo_mondo_0008869_medgen_c4551474_omim_210600_orphanet_808 Seckel syndrome 1 MONDO:MONDO:0008869,MedGen:C4551474,OMIM:210600,Orphanet:808 18 18 1.0000 condition_record_support_limited 20 0 12 Seckel_syndrome_1 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARSL mondo_mondo_0010555_medgen_c3669395_omim_302950_orphanet_79345 X-linked chondrodysplasia punctata 1 MONDO:MONDO:0010555,MedGen:C3669395,OMIM:302950,Orphanet:79345 18 18 1.0000 condition_record_support_limited 20 0 3 X-linked_chondrodysplasia_punctata_1 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARFGEF1 condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 7 not_provided 79 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AP4S1 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 18 18 1.0000 condition_record_support_limited 20 0 11 Spastic_paraplegia 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4B1 condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 15 not_provided 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP1S2 mondo_mondo_0010574_medgen_c0796254_omim_304340_orphanet_1568_orphanet_85329_orphanet_85335 Pettigrew syndrome MONDO:MONDO:0010574,MedGen:C0796254,OMIM:304340,Orphanet:1568,Orphanet:85329,Orphanet:85335 18 18 1.0000 condition_record_support_limited 20 0 4 Pettigrew_syndrome 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMT condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 17 not_provided 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMHR2 condition_not_provided condition not provided MedGen:C3661900 18 18 1.0000 condition_record_support_limited 20 18 5 not_provided 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 18 18 1.0000 condition_record_support_limited 20 18 8 not_provided 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOX12B mondo_mondo_0017778_medgen_c5848247_orphanet_313 Lamellar ichthyosis MONDO:MONDO:0017778,MedGen:C5848247,Orphanet:313 18 18 1.0000 condition_record_support_limited 20 0 12 Lamellar_ichthyosis 150 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIFM1 medgen_c1845095_omim_300614_orphanet_139583 Deafness, X-linked 5 MedGen:C1845095,OMIM:300614,Orphanet:139583 18 18 1.0000 condition_record_support_limited 20 0 4 Deafness,_X-linked_5 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHCY mondo_mondo_0013404_medgen_c3151058_omim_613752_orphanet_88618 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:MONDO:0013404,MedGen:C3151058,OMIM:613752,Orphanet:88618 18 18 1.0000 condition_record_support_limited 20 0 4 Hypermethioninemia_with_deficiency_of_S-adenosylhomocysteine_hydrolase 19 low_record_burden_interpretation_limited low_record_burden_gene ACTA1 mondo_mondo_0859523_medgen_c5830333_omim_620278 Congenital myopathy 2c, severe infantile, autosomal dominant MONDO:MONDO:0859523,MedGen:C5830333,OMIM:620278 18 18 1.0000 condition_record_support_limited 20 0 13 Congenital_myopathy_2c,_severe_infantile,_autosomal_dominant 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC9 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 18 18 1.0000 condition_record_support_limited 20 18 6 not_provided 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 abcc8_related_disorder ABCC8-related disorder . 18 18 1.0000 condition_record_support_limited 20 0 16 ABCC8-related_disorder 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB11 mondo_mondo_0015762_medgen_c0268312_omim_ps211600_orphanet_172 Progressive familial intrahepatic cholestasis MONDO:MONDO:0015762,MedGen:C0268312,OMIM:PS211600,Orphanet:172 18 18 1.0000 condition_record_support_limited 20 0 17 Progressive_familial_intrahepatic_cholestasis 318 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YY1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 17 17 1.0000 condition_record_support_limited 20 17 4 not_provided 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WNT10B mondo_mondo_0009157_medgen_c2749665_omim_225300_orphanet_2440 Split hand-foot malformation 6 MONDO:MONDO:0009157,MedGen:C2749665,OMIM:225300,Orphanet:2440 17 17 1.0000 condition_record_support_limited 20 0 4 Split_hand-foot_malformation_6 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR81 mondo_mondo_0012430_medgen_c2750234_omim_610185_orphanet_1766 Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 MONDO:MONDO:0012430,MedGen:C2750234,OMIM:610185,Orphanet:1766 17 17 1.0000 condition_record_support_limited 20 0 10 Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_2 36 compact_adjacent_exon_block_opportunity local_compact_architecture WDR35 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 10 not_provided 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR26 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 17 17 1.0000 condition_record_support_limited 20 17 1 See_cases|not_provided 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDPCP mondo_mondo_0009008_medgen_c1857587_omim_217085_orphanet_1338 Heart defect - tongue hamartoma - polysyndactyly syndrome MONDO:MONDO:0009008,MedGen:C1857587,OMIM:217085,Orphanet:1338 17 17 1.0000 condition_record_support_limited 20 0 14 Heart_defect_-_tongue_hamartoma_-_polysyndactyly_syndrome 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VCP condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 10 not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USH2A human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 17 17 1.0000 condition_record_support_limited 20 0 17 Retinal_disorder 2100 large_gene_or_donor_burden_stress_case donor_burden_stress UGT1A9 ugt1a1_related_disorder UGT1A1-related disorder . 17 17 1.0000 condition_record_support_limited 20 0 13 UGT1A1-related_disorder 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A8 ugt1a1_related_disorder UGT1A1-related disorder . 17 17 1.0000 condition_record_support_limited 20 0 13 UGT1A1-related_disorder 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A7 ugt1a1_related_disorder UGT1A1-related disorder . 17 17 1.0000 condition_record_support_limited 20 0 13 UGT1A1-related_disorder 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A6 ugt1a1_related_disorder UGT1A1-related disorder . 17 17 1.0000 condition_record_support_limited 20 0 13 UGT1A1-related_disorder 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A5 ugt1a1_related_disorder UGT1A1-related disorder . 17 17 1.0000 condition_record_support_limited 20 0 13 UGT1A1-related_disorder 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A4 ugt1a1_related_disorder UGT1A1-related disorder . 17 17 1.0000 condition_record_support_limited 20 0 13 UGT1A1-related_disorder 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A3 ugt1a1_related_disorder UGT1A1-related disorder . 17 17 1.0000 condition_record_support_limited 20 0 13 UGT1A1-related_disorder 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A10 ugt1a1_related_disorder UGT1A1-related disorder . 17 17 1.0000 condition_record_support_limited 20 0 13 UGT1A1-related_disorder 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A1 ugt1a1_related_disorder UGT1A1-related disorder . 17 17 1.0000 condition_record_support_limited 20 0 13 UGT1A1-related_disorder 80 compact_adjacent_exon_block_opportunity local_compact_architecture UBE3A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 17 17 1.0000 condition_record_support_limited 20 0 12 Inborn_genetic_diseases 274 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBA2 mondo_mondo_0859262_medgen_c5677019_omim_619959 ACCES syndrome MONDO:MONDO:0859262,MedGen:C5677019,OMIM:619959 17 17 1.0000 condition_record_support_limited 20 0 4 ACCES_syndrome 28 compact_adjacent_exon_block_opportunity local_compact_architecture TUBB2A mondo_mondo_0014337_medgen_c3810407_omim_615763 Complex cortical dysplasia with other brain malformations 5 MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763 17 17 1.0000 condition_record_support_limited 20 0 10 Complex_cortical_dysplasia_with_other_brain_malformations_5 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB mondo_mondo_0014341_medgen_c4014283_omim_615771 Complex cortical dysplasia with other brain malformations 6 MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771 17 17 1.0000 condition_record_support_limited 20 0 8 Complex_cortical_dysplasia_with_other_brain_malformations_6 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN54 mondo_mondo_0009166_medgen_c1856974_omim_225753_orphanet_166063 Pontocerebellar hypoplasia type 4 MONDO:MONDO:0009166,MedGen:C1856974,OMIM:225753,Orphanet:166063 17 17 1.0000 condition_record_support_limited 20 0 13 Pontocerebellar_hypoplasia_type_4 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 Neuromuscular disease MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 17 17 1.0000 condition_record_support_limited 20 0 17 Neuromuscular_disease 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC2L mondo_mondo_0009659_medgen_c0086651_omim_253000_orphanet_309297_orphanet_582 Mucopolysaccharidosis, MPS-IV-A MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000,Orphanet:309297,Orphanet:582 17 17 1.0000 condition_record_support_limited 20 0 0 Mucopolysaccharidosis,_MPS-IV-A 23 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture TRAPPC2 mondo_mondo_0019667_medgen_cn033239_orphanet_93284 Spondyloepiphyseal dysplasia tarda MONDO:MONDO:0019667,MedGen:CN033239,Orphanet:93284 17 17 1.0000 condition_record_support_limited 20 0 5 Spondyloepiphyseal_dysplasia_tarda 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC12 mondo_mondo_0044696_medgen_c5567229_omim_617669_orphanet_500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome MONDO:MONDO:0044696,MedGen:C5567229,OMIM:617669,Orphanet:500144 17 17 1.0000 condition_record_support_limited 20 0 4 Early-onset_progressive_encephalopathy-hearing_loss-pons_hypoplasia-brain_atrophy_syndrome 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNFRSF11A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 17 17 1.0000 condition_record_support_limited 20 17 2 not_provided 32 compact_adjacent_exon_block_opportunity local_compact_architecture TMEM138 mondo_mondo_0013764_medgen_c3280906_omim_614465_orphanet_2318 Joubert syndrome 16 MONDO:MONDO:0013764,MedGen:C3280906,OMIM:614465,Orphanet:2318 17 17 1.0000 condition_record_support_limited 20 0 3 Joubert_syndrome_16 19 low_record_burden_interpretation_limited low_record_burden_gene THOC2 mondo_mondo_0010496_medgen_c0796218_omim_300957_orphanet_457240 X-linked intellectual disability-short stature-overweight syndrome MONDO:MONDO:0010496,MedGen:C0796218,OMIM:300957,Orphanet:457240 17 17 1.0000 condition_record_support_limited 20 0 4 X-linked_intellectual_disability-short_stature-overweight_syndrome 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFB3 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 17 17 1.0000 condition_record_support_limited 20 0 10 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TEX15 mondo_mondo_0054729_medgen_c4693765_omim_617960 Spermatogenic failure 25 MONDO:MONDO:0054729,MedGen:C4693765,OMIM:617960 17 17 1.0000 condition_record_support_limited 20 0 3 Spermatogenic_failure_25 22 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TET2 ebv_positive_nodal_t_and_nk_cell_lymphoma EBV-positive nodal T- and NK-cell lymphoma . 17 17 1.0000 condition_record_support_limited 20 0 4 EBV-positive_nodal_T-_and_NK-cell_lymphoma 178 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TBXAS1 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 3 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D24 mondo_mondo_0014133_medgen_c3809173_omim_615338_orphanet_293181_orphanet_352596 Developmental and epileptic encephalopathy, 16 MONDO:MONDO:0014133,MedGen:C3809173,OMIM:615338,Orphanet:293181,Orphanet:352596 17 17 1.0000 condition_record_support_limited 20 0 14 Developmental_and_epileptic_encephalopathy,_16 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYT1 mondo_mondo_0033864_medgen_c4748715_omim_618218_orphanet_522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome MONDO:MONDO:0033864,MedGen:C4748715,OMIM:618218,Orphanet:522077 17 17 1.0000 condition_record_support_limited 20 0 6 Infantile_hypotonia-oculomotor_anomalies-hyperkinetic_movements-developmental_delay_syndrome 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP2 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 12 not_provided 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STK4 mondo_mondo_0013934_medgen_c3553943_omim_614868_orphanet_314689 Combined immunodeficiency due to STK4 deficiency MONDO:MONDO:0013934,MedGen:C3553943,OMIM:614868,Orphanet:314689 17 17 1.0000 condition_record_support_limited 20 0 1 Combined_immunodeficiency_due_to_STK4_deficiency 19 low_record_burden_interpretation_limited low_record_burden_gene STAMBP condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 17 17 1.0000 condition_record_support_limited 20 17 6 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPTA1 mondo_mondo_0007533_medgen_c1851741_omim_130600_orphanet_288 Elliptocytosis 2 MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288 17 17 1.0000 condition_record_support_limited 20 0 14 Elliptocytosis_2 210 large_gene_or_donor_burden_stress_case donor_burden_stress SOD1 sod1_related_disorder SOD1-related disorder . 17 17 1.0000 condition_record_support_limited 20 0 14 SOD1-related_disorder 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNX10 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 3 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNAP25 mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 17 17 1.0000 condition_record_support_limited 20 0 10 Developmental_and_epileptic_encephalopathy 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD4 mondo_mondo_0008276_medgen_c1868081_orphanet_329971 Generalized juvenile polyposis/juvenile polyposis coli MONDO:MONDO:0008276,MedGen:C1868081,Orphanet:329971 17 17 1.0000 condition_record_support_limited 20 0 12 Generalized_juvenile_polyposis/juvenile_polyposis_coli 300 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SLC4A1 medgen_c1292286_omim_110500 BLOOD GROUP--DIEGO SYSTEM MedGen:C1292286,OMIM:110500 17 17 1.0000 condition_record_support_limited 20 0 17 BLOOD_GROUP--DIEGO_SYSTEM 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A1 mondo_mondo_0011759_medgen_c0086431_omim_607015_orphanet_93476 Mucopolysaccharidosis, MPS-I-H/S MONDO:MONDO:0011759,MedGen:C0086431,OMIM:607015,Orphanet:93476 17 17 1.0000 condition_record_support_limited 20 0 14 Mucopolysaccharidosis,_MPS-I-H/S 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC1A4 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 3 not_provided 32 compact_adjacent_exon_block_opportunity local_compact_architecture SLC1A4 mondo_mondo_0014725_medgen_c4225254_omim_616657_orphanet_447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome MONDO:MONDO:0014725,MedGen:C4225254,OMIM:616657,Orphanet:447997 17 17 1.0000 condition_record_support_limited 20 0 3 Spastic_tetraplegia-thin_corpus_callosum-progressive_postnatal_microcephaly_syndrome 32 compact_adjacent_exon_block_opportunity local_compact_architecture SLC17A5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 17 17 1.0000 condition_record_support_limited 20 17 15 not_provided|not_specified 154 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SIX3 mondo_mondo_0007999_medgen_c1834877_omim_157170_orphanet_2162 Holoprosencephaly 2 MONDO:MONDO:0007999,MedGen:C1834877,OMIM:157170,Orphanet:2162 17 17 1.0000 condition_record_support_limited 20 0 4 Holoprosencephaly_2 31 compact_adjacent_exon_block_opportunity local_compact_architecture SERAC1 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 11 not_provided 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEC24D mondo_mondo_0014573_medgen_c4225382_omim_616294_orphanet_2050 Cole-Carpenter syndrome 2 MONDO:MONDO:0014573,MedGen:C4225382,OMIM:616294,Orphanet:2050 17 17 1.0000 condition_record_support_limited 20 0 3 Cole-Carpenter_syndrome_2 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHC mondo_mondo_0017366_medgen_c4274332_omim_ps168000_orphanet_29072 Hereditary pheochromocytoma and paraganglioma MONDO:MONDO:0017366,MedGen:C4274332,OMIM:PS168000,Orphanet:29072 17 17 1.0000 condition_record_support_limited 20 0 14 Hereditary_pheochromocytoma_and_paraganglioma 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHB sdhb_related_disorder SDHB-related disorder MedGen:CN239418 17 17 1.0000 condition_record_support_limited 20 0 16 SDHB-related_disorder 280 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SCNN1B mondo_mondo_0008887_medgen_c2749757_omim_211400_orphanet_60033 Bronchiectasis with or without elevated sweat chloride 1 MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400,Orphanet:60033 17 17 1.0000 condition_record_support_limited 20 0 15 Bronchiectasis_with_or_without_elevated_sweat_chloride_1 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN3A condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 7 not_provided 36 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SATB1 mondo_mondo_0030988_medgen_c5543197_omim_619228 Developmental delay with dysmorphic facies and dental anomalies MONDO:MONDO:0030988,MedGen:C5543197,OMIM:619228 17 17 1.0000 condition_record_support_limited 20 0 2 Developmental_delay_with_dysmorphic_facies_and_dental_anomalies 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SAMHD1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 17 17 1.0000 condition_record_support_limited 20 17 15 not_provided|not_specified 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SACS mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 17 17 1.0000 condition_record_support_limited 20 0 15 Hereditary_spastic_paraplegia 990 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RPL5 condition_not_provided condition not provided .|MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 4 See_cases|not_provided 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RELN condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 17 17 1.0000 condition_record_support_limited 20 17 2 not_provided 117 large_gene_or_donor_burden_stress_case donor_burden_stress RB1 mondo_mondo_0010206_medgen_c3279470_omim_278150_orphanet_55654 Hypotrichosis 8 MONDO:MONDO:0010206,MedGen:C3279470,OMIM:278150,Orphanet:55654 17 17 1.0000 condition_record_support_limited 20 0 2 Hypotrichosis_8 947 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RARB mondo_mondo_0014229_medgen_c3809803_omim_615524_orphanet_2470_orphanet_689829 Microphthalmia, syndromic 12 MONDO:MONDO:0014229,MedGen:C3809803,OMIM:615524,Orphanet:2470,Orphanet:689829 17 17 1.0000 condition_record_support_limited 20 0 5 Microphthalmia,_syndromic_12 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD21 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 17 17 1.0000 condition_record_support_limited 20 17 6 See_cases|not_provided 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTEN mondo_mondo_0011098_medgen_c4722327_omim_601518_orphanet_1331 Prostate cancer, hereditary, 1 MONDO:MONDO:0011098,MedGen:C4722327,OMIM:601518,Orphanet:1331 17 17 1.0000 condition_record_support_limited 20 0 17 Prostate_cancer,_hereditary,_1 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTCH1 mondo_mondo_0012562_medgen_c1835820_omim_610828_orphanet_2162 Holoprosencephaly 7 MONDO:MONDO:0012562,MedGen:C1835820,OMIM:610828,Orphanet:2162 17 17 1.0000 condition_record_support_limited 20 0 11 Holoprosencephaly_7 736 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRUNE1 mondo_mondo_0060490_medgen_c4479566_omim_617481_orphanet_544469 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:MONDO:0060490,MedGen:C4479566,OMIM:617481,Orphanet:544469 17 17 1.0000 condition_record_support_limited 20 0 8 Neurodevelopmental_disorder_with_microcephaly,_hypotonia,_and_variable_brain_anomalies 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRMT9 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 17 17 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 18 low_record_burden_interpretation_limited low_record_burden_gene PPP1R21 mondo_mondo_0859165_medgen_c5543591_omim_619383 Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities MONDO:MONDO:0859165,MedGen:C5543591,OMIM:619383 17 17 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_hypotonia,_facial_dysmorphism,_and_brain_abnormalities 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 17 17 1.0000 condition_record_support_limited 20 17 10 not_provided 48 compact_adjacent_exon_block_opportunity local_compact_architecture PNLIP condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 1 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene PMS2 inherited_mmr_deficiency_lynch_syndrome Inherited MMR deficiency (Lynch syndrome) . 17 17 1.0000 condition_record_support_limited 20 0 16 Inherited_MMR_deficiency_(Lynch_syndrome) 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMP22 mondo_mondo_0007309_medgen_c0270911_omim_118220_orphanet_101081 Charcot-Marie-Tooth disease, type IA MONDO:MONDO:0007309,MedGen:C0270911,OMIM:118220,Orphanet:101081 17 17 1.0000 condition_record_support_limited 20 0 17 Charcot-Marie-Tooth_disease,_type_IA 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLD1 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 2 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLCE1 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 8 not_provided 63 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKD2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 17 17 1.0000 condition_record_support_limited 20 0 15 Inborn_genetic_diseases 428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0013038_medgen_c2752042_omim_612918_orphanet_140944 CLOVES syndrome MONDO:MONDO:0013038,MedGen:C2752042,OMIM:612918,Orphanet:140944 17 17 1.0000 condition_record_support_limited 20 0 16 CLOVES_syndrome 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIEZO2 mondo_mondo_0007158_medgen_c1862472_omim_108145_orphanet_1154 Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145,Orphanet:1154 17 17 1.0000 condition_record_support_limited 20 0 5 Arthrogryposis-_oculomotor_limitation-electroretinal_anomalies_syndrome 134 large_gene_or_donor_burden_stress_case donor_burden_stress PEX1 pex1_related_disorder PEX1-related disorder . 17 17 1.0000 condition_record_support_limited 20 0 15 PEX1-related_disorder 469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDHX condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 8 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDGFB condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 17 17 1.0000 condition_record_support_limited 20 17 2 not_provided 25 compact_adjacent_exon_block_opportunity local_compact_architecture PDE6C human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 17 17 1.0000 condition_record_support_limited 20 0 5 Retinal_dystrophy 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE3B mondo_mondo_0010810_medgen_c1838657_omim_600081_orphanet_289157 Vitamin D hydroxylation-deficient rickets, type 1B MONDO:MONDO:0010810,MedGen:C1838657,OMIM:600081,Orphanet:289157 17 17 1.0000 condition_record_support_limited 20 0 10 Vitamin_D_hydroxylation-deficient_rickets,_type_1B 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCBD1 mondo_mondo_0009908_medgen_c1849700_omim_264070_orphanet_1578_orphanet_238583 Pterin-4 alpha-carbinolamine dehydratase 1 deficiency MONDO:MONDO:0009908,MedGen:C1849700,OMIM:264070,Orphanet:1578,Orphanet:238583 17 17 1.0000 condition_record_support_limited 20 0 4 Pterin-4_alpha-carbinolamine_dehydratase_1_deficiency 17 low_record_burden_interpretation_limited low_record_burden_gene PAK3 mondo_mondo_0010361_medgen_c0796237_omim_300558_orphanet_777 Intellectual disability, X-linked 30 MONDO:MONDO:0010361,MedGen:C0796237,OMIM:300558,Orphanet:777 17 17 1.0000 condition_record_support_limited 20 0 6 Intellectual_disability,_X-linked_30 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTOF human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Bilateral sensorineural hearing impairment Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 17 17 1.0000 condition_record_support_limited 20 0 16 Bilateral_sensorineural_hearing_impairment 355 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ORC4 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 2 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR3C2 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 5 not_provided 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR2F2 mondo_mondo_0014344_medgen_c4014310_omim_615779 Congenital heart defects, multiple types, 4 MONDO:MONDO:0014344,MedGen:C4014310,OMIM:615779 17 17 1.0000 condition_record_support_limited 20 0 3 Congenital_heart_defects,_multiple_types,_4 35 compact_adjacent_exon_block_opportunity local_compact_architecture NHLRC1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 17 17 1.0000 condition_record_support_limited 20 17 8 not_provided 49 single_exon_hotspot_opportunity local_compact_architecture NFIB condition_not_provided condition not provided .|MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 7 See_cases|not_provided 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NF1 human_phenotype_ontology_hp_0001067_human_phenotype_ontology_hp_0006746_human_phenotype_ontology_hp_0007386_human_phenotype_ontology_hp_0007612_mondo_mondo_0016755_mesh_d009455_medgen_c0027830_orphanet_252183 Neurofibroma Human_Phenotype_Ontology:HP:0001067,Human_Phenotype_Ontology:HP:0006746,Human_Phenotype_Ontology:HP:0007386,Human_Phenotype_Ontology:HP:0007612,MONDO:MONDO:0016755,MeSH:D009455,MedGen:C0027830,Orphanet:252183 17 17 1.0000 condition_record_support_limited 20 0 15 Neurofibroma 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NAA10 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 17 17 1.0000 condition_record_support_limited 20 17 9 not_provided 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO15A myo15a_related_disorder MYO15A-related disorder . 17 17 1.0000 condition_record_support_limited 20 0 15 MYO15A-related_disorder 714 large_gene_or_donor_burden_stress_case donor_burden_stress MTHFR mondo_mondo_0008559_medgen_c3160733_omim_188050 Thrombophilia due to thrombin defect MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050 17 17 1.0000 condition_record_support_limited 20 0 17 Thrombophilia_due_to_thrombin_defect 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMP21 mondo_mondo_0014762_medgen_c4225217_omim_616749_orphanet_450 Heterotaxy, visceral, 7, autosomal MONDO:MONDO:0014762,MedGen:C4225217,OMIM:616749,Orphanet:450 17 17 1.0000 condition_record_support_limited 20 0 5 Heterotaxy,_visceral,_7,_autosomal 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMAA condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 14 not_provided 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFRP condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 16 not_provided 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED12L mondo_mondo_0030030_medgen_c5394350_omim_618872 Nizon-Isidor syndrome MONDO:MONDO:0030030,MedGen:C5394350,OMIM:618872 17 17 1.0000 condition_record_support_limited 20 0 1 Nizon-Isidor_syndrome 35 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12 mondo_mondo_0010477_medgen_c3698541_omim_300895_orphanet_293707 Blepharophimosis - intellectual disability syndrome, MKB type MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895,Orphanet:293707 17 17 1.0000 condition_record_support_limited 20 0 12 Blepharophimosis_-_intellectual_disability_syndrome,_MKB_type 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MBOAT7 mondo_mondo_0014962_medgen_c4310673_omim_617188 Intellectual disability, autosomal recessive 57 MONDO:MONDO:0014962,MedGen:C4310673,OMIM:617188 17 17 1.0000 condition_record_support_limited 20 0 5 Intellectual_disability,_autosomal_recessive_57 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MBD4 mondo_mondo_0859267_medgen_c5774186_omim_619975_orphanet_661526 Tumor predisposition syndrome 2 MONDO:MONDO:0859267,MedGen:C5774186,OMIM:619975,Orphanet:661526 17 17 1.0000 condition_record_support_limited 20 0 15 Tumor_predisposition_syndrome_2 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MACF1 mondo_mondo_0032677_medgen_c5193029_omim_618325_orphanet_572013 Lissencephaly 9 with complex brainstem malformation MONDO:MONDO:0032677,MedGen:C5193029,OMIM:618325,Orphanet:572013 17 17 1.0000 condition_record_support_limited 20 0 5 Lissencephaly_9_with_complex_brainstem_malformation 20 large_gene_or_donor_burden_stress_case donor_burden_stress LSS condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 5 not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LSS mondo_mondo_0030009_medgen_c5394241_omim_618840 Alopecia-intellectual disability syndrome 4 MONDO:MONDO:0030009,MedGen:C5394241,OMIM:618840 17 17 1.0000 condition_record_support_limited 20 0 6 Alopecia-intellectual_disability_syndrome_4 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LPAR6 mondo_mondo_0010206_medgen_c3279470_omim_278150_orphanet_55654 Hypotrichosis 8 MONDO:MONDO:0010206,MedGen:C3279470,OMIM:278150,Orphanet:55654 17 17 1.0000 condition_record_support_limited 20 0 2 Hypotrichosis_8 18 low_record_burden_interpretation_limited low_record_burden_gene LMNA mondo_mondo_0014676_medgen_c2750035_omim_616516_orphanet_261_orphanet_98855 Emery-Dreifuss muscular dystrophy 3, autosomal recessive MONDO:MONDO:0014676,MedGen:C2750035,OMIM:616516,Orphanet:261,Orphanet:98855 17 17 1.0000 condition_record_support_limited 20 0 17 Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive 536 compact_adjacent_exon_block_opportunity local_compact_architecture LIG4 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 14 not_provided 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LEPR lepr_related_disorder LEPR-related disorder . 17 17 1.0000 condition_record_support_limited 20 0 5 LEPR-related_disorder 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LCK mondo_mondo_0014334_medgen_c4014233_omim_615758_orphanet_280142 Severe combined immunodeficiency due to LCK deficiency MONDO:MONDO:0014334,MedGen:C4014233,OMIM:615758,Orphanet:280142 17 17 1.0000 condition_record_support_limited 20 0 0 Severe_combined_immunodeficiency_due_to_LCK_deficiency 18 low_record_burden_interpretation_limited low_record_burden_gene LCAT mondo_mondo_0007620_medgen_c0342895_omim_136120_orphanet_650_orphanet_79292 Fish-eye disease MONDO:MONDO:0007620,MedGen:C0342895,OMIM:136120,Orphanet:650,Orphanet:79292 17 17 1.0000 condition_record_support_limited 20 0 14 Fish-eye_disease 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMC3 mondo_mondo_0013583_medgen_c3279875_omim_614115_orphanet_280640 Occipital pachygyria and polymicrogyria MONDO:MONDO:0013583,MedGen:C3279875,OMIM:614115,Orphanet:280640 17 17 1.0000 condition_record_support_limited 20 0 5 Occipital_pachygyria_and_polymicrogyria 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMB2 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 10 not_provided 108 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KRTCAP3 mondo_mondo_0014618_medgen_c4225342_omim_616394_orphanet_791 Retinitis pigmentosa 71 MONDO:MONDO:0014618,MedGen:C4225342,OMIM:616394,Orphanet:791 17 17 1.0000 condition_record_support_limited 20 0 16 Retinitis_pigmentosa_71 17 low_record_burden_interpretation_limited low_record_burden_gene KRT17 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 14 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene KRT16 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 17 17 1.0000 condition_record_support_limited 20 17 12 not_provided 22 compact_adjacent_exon_block_opportunity local_compact_architecture KRAS mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 Noonan syndrome MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 17 17 1.0000 condition_record_support_limited 20 0 14 Noonan_syndrome 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KLHL7 mondo_mondo_0014890_medgen_c4310742_omim_617055_orphanet_157820_orphanet_603684 PERCHING syndrome MONDO:MONDO:0014890,MedGen:C4310742,OMIM:617055,Orphanet:157820,Orphanet:603684 17 17 1.0000 condition_record_support_limited 20 0 9 PERCHING_syndrome 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KLHL3 mondo_mondo_0013781_medgen_c3469605_omim_614495_orphanet_300525_orphanet_757 Pseudohypoaldosteronism type 2D MONDO:MONDO:0013781,MedGen:C3469605,OMIM:614495,Orphanet:300525,Orphanet:757 17 17 1.0000 condition_record_support_limited 20 0 10 Pseudohypoaldosteronism_type_2D 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIT human_phenotype_ontology_hp_0007544_mondo_mondo_0008244_medgen_c0080024_omim_172800_orphanet_2884 Piebaldism Human_Phenotype_Ontology:HP:0007544,MONDO:MONDO:0008244,MedGen:C0080024,OMIM:172800,Orphanet:2884 17 17 1.0000 condition_record_support_limited 20 0 3 Piebaldism 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIRREL2 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 9 not_provided 40 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture KIDINS220 mondo_mondo_0015007_medgen_c4284592_omim_617296_orphanet_521390 Spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:MONDO:0015007,MedGen:C4284592,OMIM:617296,Orphanet:521390 17 17 1.0000 condition_record_support_limited 20 0 2 Spastic_paraplegia,_intellectual_disability,_nystagmus,_and_obesity 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KCNB1 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 17 17 1.0000 condition_record_support_limited 20 0 13 Epileptic_encephalopathy 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KATNIP mondo_mondo_0014771_medgen_c4084843_omim_616784_orphanet_475 Joubert syndrome 26 MONDO:MONDO:0014771,MedGen:C4084843,OMIM:616784,Orphanet:475 17 17 1.0000 condition_record_support_limited 20 0 3 Joubert_syndrome_26 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITK mondo_mondo_0013081_medgen_c3552634_omim_613011_orphanet_238505_orphanet_538963 Lymphoproliferative syndrome 1 MONDO:MONDO:0013081,MedGen:C3552634,OMIM:613011,Orphanet:238505,Orphanet:538963 17 17 1.0000 condition_record_support_limited 20 0 0 Lymphoproliferative_syndrome_1 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INF2 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 10 not_provided 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL12B mondo_mondo_0013954_medgen_c4013948_omim_614890_orphanet_319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency MONDO:MONDO:0013954,MedGen:C4013948,OMIM:614890,Orphanet:319558 17 17 1.0000 condition_record_support_limited 20 0 1 Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12B_deficiency 17 low_record_burden_interpretation_limited low_record_burden_gene IGHMBP2 mondo_mondo_0018894_medgen_c0393541_orphanet_53739 Distal spinal muscular atrophy MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739 17 17 1.0000 condition_record_support_limited 20 0 17 Distal_spinal_muscular_atrophy 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDH3A condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 3 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSF4 human_phenotype_ontology_hp_0007971_mondo_mondo_0007290_medgen_c0266537_omim_116800_orphanet_91492 Cataract 5 multiple types Human_Phenotype_Ontology:HP:0007971,MONDO:MONDO:0007290,MedGen:C0266537,OMIM:116800,Orphanet:91492 17 17 1.0000 condition_record_support_limited 20 0 1 Cataract_5_multiple_types 21 compact_adjacent_exon_block_opportunity local_compact_architecture HPGD mondo_mondo_0024546_medgen_c4551679_omim_259100_orphanet_1525_orphanet_2796 Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 MONDO:MONDO:0024546,MedGen:C4551679,OMIM:259100,Orphanet:1525,Orphanet:2796 17 17 1.0000 condition_record_support_limited 20 0 9 Hypertrophic_osteoarthropathy,_primary,_autosomal_recessive,_1 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HFE mondo_mondo_0021001_medgen_c3469186_omim_235200_orphanet_465508 Hemochromatosis type 1 MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508 17 17 1.0000 condition_record_support_limited 20 0 9 Hemochromatosis_type_1 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HADHB condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 17 17 1.0000 condition_record_support_limited 20 17 15 not_provided 101 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HADHB mondo_mondo_0958181_medgen_cn376812_omim_609015 Mitochondrial trifunctional protein deficiency 1 MONDO:MONDO:0958181,MedGen:CN376812,OMIM:609015 17 17 1.0000 condition_record_support_limited 20 0 15 Mitochondrial_trifunctional_protein_deficiency_1 101 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPIHBP1 mondo_mondo_0014412_medgen_c4014767_omim_615947_orphanet_444490_orphanet_535458 Hyperlipoproteinemia, type 1D MONDO:MONDO:0014412,MedGen:C4014767,OMIM:615947,Orphanet:444490,Orphanet:535458 17 17 1.0000 condition_record_support_limited 20 0 4 Hyperlipoproteinemia,_type_1D 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAT1 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 4 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAI1 mondo_mondo_0859243_medgen_c5676975_omim_619854 Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities MONDO:MONDO:0859243,MedGen:C5676975,OMIM:619854 17 17 1.0000 condition_record_support_limited 20 0 5 Neurodevelopmental_disorder_with_hypotonia,_impaired_speech,_and_behavioral_abnormalities 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJC2 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 17 17 1.0000 condition_record_support_limited 20 0 8 Spastic_paraplegia 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GIPC3 mondo_mondo_0011160_medgen_c1866094_omim_601869_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 15 MONDO:MONDO:0011160,MedGen:C1866094,OMIM:601869,Orphanet:90636 17 17 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_nonsyndromic_hearing_loss_15 28 compact_adjacent_exon_block_opportunity local_compact_architecture FOXE3 human_phenotype_ontology_hp_0007696_human_phenotype_ontology_hp_0007699_human_phenotype_ontology_hp_0007700_human_phenotype_ontology_hp_0008040_mondo_mondo_0019503_medgen_c1862839_omim_ps107250_orphanet_88632 Anterior segment dysgenesis Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632 17 17 1.0000 condition_record_support_limited 20 0 17 Anterior_segment_dysgenesis 33 single_exon_hotspot_opportunity local_compact_architecture FLVCR1 mondo_mondo_0012177_medgen_c1836916_omim_609033_orphanet_88628 Posterior column ataxia-retinitis pigmentosa syndrome MONDO:MONDO:0012177,MedGen:C1836916,OMIM:609033,Orphanet:88628 17 17 1.0000 condition_record_support_limited 20 0 10 Posterior_column_ataxia-retinitis_pigmentosa_syndrome 59 compact_adjacent_exon_block_opportunity local_compact_architecture FLT4 mondo_mondo_0032913_medgen_c5394062_omim_618780 Congenital heart defects, multiple types, 7 MONDO:MONDO:0032913,MedGen:C5394062,OMIM:618780 17 17 1.0000 condition_record_support_limited 20 0 3 Congenital_heart_defects,_multiple_types,_7 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLNA mondo_mondo_0010753_medgen_c0262436_omim_314400_orphanet_1864_orphanet_555877_orphanet_75497 Cardiac valvular dysplasia, X-linked MONDO:MONDO:0010753,MedGen:C0262436,OMIM:314400,Orphanet:1864,Orphanet:555877,Orphanet:75497 17 17 1.0000 condition_record_support_limited 20 0 10 Cardiac_valvular_dysplasia,_X-linked 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FIG4 mondo_mondo_0008995_medgen_c1857663_omim_216340_orphanet_3472 Yunis-Varon syndrome MONDO:MONDO:0008995,MedGen:C1857663,OMIM:216340,Orphanet:3472 17 17 1.0000 condition_record_support_limited 20 0 16 Yunis-Varon_syndrome 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 mondo_mondo_0012504_medgen_c1864852_omim_610474_orphanet_85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:MONDO:0012504,MedGen:C1864852,OMIM:610474,Orphanet:85164 17 17 1.0000 condition_record_support_limited 20 0 15 Camptodactyly-tall_stature-scoliosis-hearing_loss_syndrome 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 mondo_mondo_0007400_medgen_c0795998_omim_123150_orphanet_1540 Jackson-Weiss syndrome MONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150,Orphanet:1540 17 17 1.0000 condition_record_support_limited 20 0 17 Jackson-Weiss_syndrome 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 mondo_mondo_0007041_medgen_c0001193_omim_101200_orphanet_87 Acrocephalosyndactyly type I MONDO:MONDO:0007041,MedGen:C0001193,OMIM:101200,Orphanet:87 17 17 1.0000 condition_record_support_limited 20 0 14 Acrocephalosyndactyly_type_I 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXO11 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 17 17 1.0000 condition_record_support_limited 20 0 7 Neurodevelopmental_disorder 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCG condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 17 17 1.0000 condition_record_support_limited 20 17 16 not_provided|not_specified 213 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCC fancc_related_disorder FANCC-related disorder . 17 17 1.0000 condition_record_support_limited 20 0 16 FANCC-related_disorder 301 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F7 f7_related_disorder F7-related disorder . 17 17 1.0000 condition_record_support_limited 20 0 13 F7-related_disorder 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXT1 ext1_related_disorder EXT1-related disorder . 17 17 1.0000 condition_record_support_limited 20 0 7 EXT1-related_disorder 516 compact_adjacent_exon_block_opportunity local_compact_architecture ERCC4 mondo_mondo_0012590_medgen_c1970416_omim_610965 XFE progeroid syndrome MONDO:MONDO:0012590,MedGen:C1970416,OMIM:610965 17 17 1.0000 condition_record_support_limited 20 0 16 XFE_progeroid_syndrome 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPS8L2 mondo_mondo_0033198_medgen_c4539954_omim_617637 Hearing loss, autosomal recessive 106 MONDO:MONDO:0033198,MedGen:C4539954,OMIM:617637 17 17 1.0000 condition_record_support_limited 20 0 2 Hearing_loss,_autosomal_recessive_106 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPM2A condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 14 not_provided 55 compact_adjacent_exon_block_opportunity local_compact_architecture EPM2A mondo_mondo_0958199_medgen_cn377204_omim_254780 Myoclonic epilepsy of Lafora 1 MONDO:MONDO:0958199,MedGen:CN377204,OMIM:254780 17 17 1.0000 condition_record_support_limited 20 0 10 Myoclonic_epilepsy_of_Lafora_1 55 compact_adjacent_exon_block_opportunity local_compact_architecture ENTPD5 mondo_mondo_0013836_medgen_c3553349_omim_614650_orphanet_280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness MONDO:MONDO:0013836,MedGen:C3553349,OMIM:614650,Orphanet:280406 17 17 1.0000 condition_record_support_limited 20 0 4 Familial_steroid-resistant_nephrotic_syndrome_with_sensorineural_deafness 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DRP2 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 1 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene DNAJB11 mondo_mondo_0054842_medgen_c4748044_omim_618061 Polycystic kidney disease 6 with or without polycystic liver disease MONDO:MONDO:0054842,MedGen:C4748044,OMIM:618061 17 17 1.0000 condition_record_support_limited 20 0 7 Polycystic_kidney_disease_6_with_or_without_polycystic_liver_disease 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAH11 dnah11_related_disorder DNAH11-related disorder . 17 17 1.0000 condition_record_support_limited 20 0 12 DNAH11-related_disorder 574 large_gene_or_donor_burden_stress_case donor_burden_stress DLG3 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 17 17 1.0000 condition_record_support_limited 20 17 6 See_cases|not_provided 40 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture DCDC2 mondo_mondo_0014537_medgen_c4015542_omim_616217_orphanet_84081 Nephronophthisis 19 MONDO:MONDO:0014537,MedGen:C4015542,OMIM:616217,Orphanet:84081 17 17 1.0000 condition_record_support_limited 20 0 15 Nephronophthisis_19 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP7B1 mondo_mondo_0013439_medgen_c3151147_omim_613812_orphanet_79302 Congenital bile acid synthesis defect 3 MONDO:MONDO:0013439,MedGen:C3151147,OMIM:613812,Orphanet:79302 17 17 1.0000 condition_record_support_limited 20 0 15 Congenital_bile_acid_synthesis_defect_3 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP2R1 mondo_mondo_0010810_medgen_c1838657_omim_600081_orphanet_289157 Vitamin D hydroxylation-deficient rickets, type 1B MONDO:MONDO:0010810,MedGen:C1838657,OMIM:600081,Orphanet:289157 17 17 1.0000 condition_record_support_limited 20 0 10 Vitamin_D_hydroxylation-deficient_rickets,_type_1B 30 compact_adjacent_exon_block_opportunity local_compact_architecture CYP11B2 cyp11b2_related_disorder CYP11B2-related disorder . 17 17 1.0000 condition_record_support_limited 20 0 8 CYP11B2-related_disorder 131 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYFIP2 mondo_mondo_0033374_medgen_c4693925_omim_618008 Developmental and epileptic encephalopathy, 65 MONDO:MONDO:0033374,MedGen:C4693925,OMIM:618008 17 17 1.0000 condition_record_support_limited 20 0 6 Developmental_and_epileptic_encephalopathy,_65 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CXCR4 mondo_mondo_0023880_medgen_c0472817_omim_ps193670 Warts, hypogammaglobulinemia, infections, and myelokathexis MONDO:MONDO:0023880,MedGen:C0472817,OMIM:PS193670 17 17 1.0000 condition_record_support_limited 20 0 6 Warts,_hypogammaglobulinemia,_infections,_and_myelokathexis 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CWC27 mondo_mondo_0009598_medgen_c1855188_omim_250410_orphanet_166035 Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome MONDO:MONDO:0009598,MedGen:C1855188,OMIM:250410,Orphanet:166035 17 17 1.0000 condition_record_support_limited 20 0 6 Metaphyseal_chondrodysplasia-retinitis_pigmentosa_syndrome 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CREB3L3 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 1 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene CPLANE1 cplane1_related_disorder CPLANE1-related disorder . 17 17 1.0000 condition_record_support_limited 20 0 14 CPLANE1-related_disorder 343 large_gene_or_donor_burden_stress_case donor_burden_stress COQ9 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 7 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A4 human_phenotype_ontology_hp_0000790_medgen_c0018965 Hematuria Human_Phenotype_Ontology:HP:0000790,MedGen:C0018965 17 17 1.0000 condition_record_support_limited 20 0 12 Hematuria 860 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL11A1 mondo_mondo_0032802_medgen_c4760307_omim_618533 Hearing loss, autosomal dominant 37 MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533 17 17 1.0000 condition_record_support_limited 20 0 11 Hearing_loss,_autosomal_dominant_37 248 large_gene_or_donor_burden_stress_case donor_burden_stress COCH mondo_mondo_0011058_medgen_c1832425_omim_601369_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 9 MONDO:MONDO:0011058,MedGen:C1832425,OMIM:601369,Orphanet:90635 17 17 1.0000 condition_record_support_limited 20 0 8 Autosomal_dominant_nonsyndromic_hearing_loss_9 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN7 mondo_mondo_0008156_medgen_c3179239_omim_166600_orphanet_53 Autosomal dominant osteopetrosis 2 MONDO:MONDO:0008156,MedGen:C3179239,OMIM:166600,Orphanet:53 17 17 1.0000 condition_record_support_limited 20 0 13 Autosomal_dominant_osteopetrosis_2 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN2 mondo_mondo_0011576_medgen_c1854107_omim_605635_orphanet_404 Familial hyperaldosteronism type II MONDO:MONDO:0011576,MedGen:C1854107,OMIM:605635,Orphanet:404 17 17 1.0000 condition_record_support_limited 20 0 13 Familial_hyperaldosteronism_type_II 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 clcn1_related_disorder CLCN1-related disorder . 17 17 1.0000 condition_record_support_limited 20 0 13 CLCN1-related_disorder 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHEK2 mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 17 17 1.0000 condition_record_support_limited 20 0 15 Malignant_tumor_of_breast 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 17 17 1.0000 condition_record_support_limited 20 0 12 Gastric_cancer 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 breast_and_or_ovarian_cancer Breast and/or ovarian cancer MedGen:CN221562 17 17 1.0000 condition_record_support_limited 20 0 16 Breast_and/or_ovarian_cancer 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHAT mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 Congenital myasthenic syndrome MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 17 17 1.0000 condition_record_support_limited 20 0 16 Congenital_myasthenic_syndrome 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP57 mondo_mondo_0013582_medgen_c3279843_omim_614114_orphanet_1052 Mosaic variegated aneuploidy syndrome 2 MONDO:MONDO:0013582,MedGen:C3279843,OMIM:614114,Orphanet:1052 17 17 1.0000 condition_record_support_limited 20 0 1 Mosaic_variegated_aneuploidy_syndrome_2 19 low_record_burden_interpretation_limited low_record_burden_gene CEP104 mondo_mondo_0031031_medgen_c5774193_omim_619988 Intellectual developmental disorder, autosomal recessive 77 MONDO:MONDO:0031031,MedGen:C5774193,OMIM:619988 17 17 1.0000 condition_record_support_limited 20 0 15 Intellectual_developmental_disorder,_autosomal_recessive_77 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDT1 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 2 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKN2A mondo_mondo_0007964_medgen_c1835044_omim_155601_orphanet_618 Melanoma, cutaneous malignant, susceptibility to, 2 MONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601,Orphanet:618 17 17 1.0000 condition_record_support_limited 20 0 16 Melanoma,_cutaneous_malignant,_susceptibility_to,_2 168 compact_adjacent_exon_block_opportunity local_compact_architecture CDHR1 mondo_mondo_0013348_medgen_c3150912_omim_613660 Cone-rod dystrophy 15 MONDO:MONDO:0013348,MedGen:C3150912,OMIM:613660 17 17 1.0000 condition_record_support_limited 20 0 13 Cone-rod_dystrophy_15 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC42 condition_not_provided condition not provided .|MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 10 See_cases|not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD55 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 3 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBL mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 17 17 1.0000 condition_record_support_limited 20 0 12 RASopathy 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CARMIL2 mondo_mondo_0029134_medgen_c4748304_omim_618131_orphanet_542301 Severe combined immunodeficiency due to CARMIL2 deficiency MONDO:MONDO:0029134,MedGen:C4748304,OMIM:618131,Orphanet:542301 17 17 1.0000 condition_record_support_limited 20 0 8 Severe_combined_immunodeficiency_due_to_CARMIL2_deficiency 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNA1E mondo_mondo_0032657_medgen_c4748988_omim_618285 Developmental and epileptic encephalopathy, 69 MONDO:MONDO:0032657,MedGen:C4748988,OMIM:618285 17 17 1.0000 condition_record_support_limited 20 0 8 Developmental_and_epileptic_encephalopathy,_69 33 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1C mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 17 17 1.0000 condition_record_support_limited 20 0 16 Long_QT_syndrome 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CA2 mondo_mondo_0009818_medgen_c0345407_omim_259730_orphanet_2785 Osteopetrosis with renal tubular acidosis MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730,Orphanet:2785 17 17 1.0000 condition_record_support_limited 20 0 5 Osteopetrosis_with_renal_tubular_acidosis 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C1QTNF5 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 16 not_provided 70 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture BTK mondo_mondo_0020729_medgen_c3152144_omim_601495 Autosomal recessive agammaglobulinemia 1 MONDO:MONDO:0020729,MedGen:C3152144,OMIM:601495 17 17 1.0000 condition_record_support_limited 20 0 8 Autosomal_recessive_agammaglobulinemia_1 348 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRPF1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 17 17 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMP2 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 6 not_provided 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS9 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 14 not_provided 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BARD1 mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 17 17 1.0000 condition_record_support_limited 20 0 15 Malignant_tumor_of_breast 610 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B3GALT6 mondo_mondo_0019675_medgen_c0432243_omim_ps271640 Spondyloepimetaphyseal dysplasia with joint laxity MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640 17 17 1.0000 condition_record_support_limited 20 0 17 Spondyloepimetaphyseal_dysplasia_with_joint_laxity 36 single_exon_hotspot_opportunity local_compact_architecture B3GALNT2 condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 9 not_provided 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AXIN2 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 17 17 1.0000 condition_record_support_limited 20 0 11 Colorectal_cancer 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AXDND1 human_phenotype_ontology_hp_0012588_mondo_mondo_0044765_medgen_c0403397 Steroid-resistant nephrotic syndrome Human_Phenotype_Ontology:HP:0012588,MONDO:MONDO:0044765,MedGen:C0403397 17 17 1.0000 condition_record_support_limited 20 0 14 Steroid-resistant_nephrotic_syndrome 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V0A4 mondo_mondo_0018440_medgen_c1864498_orphanet_402041 Autosomal recessive distal renal tubular acidosis MONDO:MONDO:0018440,MedGen:C1864498,Orphanet:402041 17 17 1.0000 condition_record_support_limited 20 0 13 Autosomal_recessive_distal_renal_tubular_acidosis 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V0A2 mondo_mondo_0010208_medgen_c0406587_omim_278250_orphanet_2834 Wrinkly skin syndrome MONDO:MONDO:0010208,MedGen:C0406587,OMIM:278250,Orphanet:2834 17 17 1.0000 condition_record_support_limited 20 0 17 Wrinkly_skin_syndrome 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2B1 mondo_mondo_0030891_medgen_c5677000_omim_619910 Intellectual developmental disorder, autosomal dominant 66 MONDO:MONDO:0030891,MedGen:C5677000,OMIM:619910 17 17 1.0000 condition_record_support_limited 20 0 6 Intellectual_developmental_disorder,_autosomal_dominant_66 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATM human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 17 17 1.0000 condition_record_support_limited 20 0 14 Breast_carcinoma 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ARSL condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 17 17 1.0000 condition_record_support_limited 20 17 3 not_provided 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APRT condition_not_provided condition not provided MedGen:C3661900 17 17 1.0000 condition_record_support_limited 20 17 6 not_provided 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APP human_phenotype_ontology_hp_0002511_human_phenotype_ontology_hp_0006878_human_phenotype_ontology_hp_0007213_mondo_mondo_0004975_mesh_d000544_medgen_c0002395_orphanet_1020 Alzheimer disease Human_Phenotype_Ontology:HP:0002511,Human_Phenotype_Ontology:HP:0006878,Human_Phenotype_Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020 17 17 1.0000 condition_record_support_limited 20 0 15 Alzheimer_disease 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 17 17 1.0000 condition_record_support_limited 20 0 10 Intellectual_disability 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 17 17 1.0000 condition_record_support_limited 20 0 10 Global_developmental_delay 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALG9 mondo_mondo_0009890_medgen_c1849762_omim_263210 Gillessen-Kaesbach-Nishimura syndrome MONDO:MONDO:0009890,MedGen:C1849762,OMIM:263210 17 17 1.0000 condition_record_support_limited 20 0 16 Gillessen-Kaesbach-Nishimura_syndrome 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH18A1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 17 17 1.0000 condition_record_support_limited 20 17 9 not_provided 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGL medgen_c1968739 Glycogen storage disease IIIa MedGen:C1968739 17 17 1.0000 condition_record_support_limited 20 0 13 Glycogen_storage_disease_IIIa 624 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADPRS mondo_mondo_0100095_medgen_c4748527_omim_618170_orphanet_694922 Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:MONDO:0100095,MedGen:C4748527,OMIM:618170,Orphanet:694922 17 17 1.0000 condition_record_support_limited 20 0 3 Neurodegeneration,_childhood-onset,_stress-induced,_with_variable_ataxia_and_seizures 19 low_record_burden_interpretation_limited low_record_burden_gene ADGRL1 mondo_mondo_0859292_medgen_c5774224_omim_620065 Developmental delay, behavioral abnormalities, and neuropsychiatric disorders MONDO:MONDO:0859292,MedGen:C5774224,OMIM:620065 17 17 1.0000 condition_record_support_limited 20 0 5 Developmental_delay,_behavioral_abnormalities,_and_neuropsychiatric_disorders 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTN1 mondo_mondo_0014078_medgen_c3554663_omim_615193_orphanet_140957 Platelet-type bleeding disorder 15 MONDO:MONDO:0014078,MedGen:C3554663,OMIM:615193,Orphanet:140957 17 17 1.0000 condition_record_support_limited 20 0 5 Platelet-type_bleeding_disorder_15 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABHD5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 17 17 1.0000 condition_record_support_limited 20 17 7 not_provided 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC9 mondo_mondo_0009406_medgen_c0795905_omim_239850_orphanet_1517 Hypertrichotic osteochondrodysplasia Cantu type MONDO:MONDO:0009406,MedGen:C0795905,OMIM:239850,Orphanet:1517 17 17 1.0000 condition_record_support_limited 20 0 7 Hypertrichotic_osteochondrodysplasia_Cantu_type 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 human_phenotype_ontology_hp_0004904_mondo_mondo_0018911_medgen_c0342276_omim_ps125850_orphanet_552 Maturity-onset diabetes of the young Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552 17 17 1.0000 condition_record_support_limited 20 0 17 Maturity-onset_diabetes_of_the_young 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA12 mondo_mondo_0017778_medgen_c5848247_orphanet_313 Lamellar ichthyosis MONDO:MONDO:0017778,MedGen:C5848247,Orphanet:313 17 17 1.0000 condition_record_support_limited 20 0 12 Lamellar_ichthyosis 206 large_gene_or_donor_burden_stress_case donor_burden_stress ZMYND10 mondo_mondo_0014192_medgen_c3809543_omim_615444_orphanet_244 Primary ciliary dyskinesia 22 MONDO:MONDO:0014192,MedGen:C3809543,OMIM:615444,Orphanet:244 16 16 1.0000 condition_record_support_limited 20 0 7 Primary_ciliary_dyskinesia_22 35 compact_adjacent_exon_block_opportunity local_compact_architecture ZBTB7A mondo_mondo_0859231_medgen_c5676928_omim_619769_orphanet_694956 Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin MONDO:MONDO:0859231,MedGen:C5676928,OMIM:619769,Orphanet:694956 16 16 1.0000 condition_record_support_limited 20 0 2 Macrocephaly,_neurodevelopmental_delay,_lymphoid_hyperplasia,_and_persistent_fetal_hemoglobin 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XPO1 xpo1_associated_neurodevelopmental_disorder XPO1-associated Neurodevelopmental Disorder . 16 16 1.0000 condition_record_support_limited 20 0 0 XPO1-associated_Neurodevelopmental_Disorder 16 low_record_burden_interpretation_limited low_record_burden_gene WDR73 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 16 16 1.0000 condition_record_support_limited 20 16 9 not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR45 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 16 16 1.0000 condition_record_support_limited 20 0 9 Inborn_genetic_diseases 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDPCP mondo_mondo_0014443_medgen_c3150127_omim_615992_orphanet_110 Bardet-Biedl syndrome 15 MONDO:MONDO:0014443,MedGen:C3150127,OMIM:615992,Orphanet:110 16 16 1.0000 condition_record_support_limited 20 0 12 Bardet-Biedl_syndrome_15 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VRK1 mondo_mondo_0957876_medgen_c5882703_omim_620542 Neuronopathy, distal hereditary motor, autosomal recessive 10 MONDO:MONDO:0957876,MedGen:C5882703,OMIM:620542 16 16 1.0000 condition_record_support_limited 20 0 15 Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_10 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VPS16 mondo_mondo_0025691_medgen_c5543312_omim_619291 Dystonia 30 MONDO:MONDO:0025691,MedGen:C5543312,OMIM:619291 16 16 1.0000 condition_record_support_limited 20 0 4 Dystonia_30 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VCAN condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 7 not_provided 25 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture UROS condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 7 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UPF3B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 16 16 1.0000 condition_record_support_limited 20 16 4 not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UNC13D mondo_mondo_0015541_medgen_c0272199_omim_ps267700_orphanet_158038_orphanet_540 Familial hemophagocytic lymphohistiocytosis MONDO:MONDO:0015541,MedGen:C0272199,OMIM:PS267700,Orphanet:158038,Orphanet:540 16 16 1.0000 condition_record_support_limited 20 0 14 Familial_hemophagocytic_lymphohistiocytosis 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TWNK mondo_mondo_0010060_medgen_c1849096_omim_271245_orphanet_1186 Infantile onset spinocerebellar ataxia MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245,Orphanet:1186 16 16 1.0000 condition_record_support_limited 20 0 8 Infantile_onset_spinocerebellar_ataxia 82 compact_adjacent_exon_block_opportunity local_compact_architecture TTC19 mondo_mondo_0014063_medgen_c3554605_omim_615157 Mitochondrial complex III deficiency nuclear type 2 MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157 16 16 1.0000 condition_record_support_limited 20 0 4 Mitochondrial_complex_III_deficiency_nuclear_type_2 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN2 mondo_mondo_0012890_medgen_c2676466_omim_612389_orphanet_2524 Pontocerebellar hypoplasia type 2B MONDO:MONDO:0012890,MedGen:C2676466,OMIM:612389,Orphanet:2524 16 16 1.0000 condition_record_support_limited 20 0 4 Pontocerebellar_hypoplasia_type_2B 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSC1 tsc1_related_disorder TSC1-related disorder . 16 16 1.0000 condition_record_support_limited 20 0 10 TSC1-related_disorder 739 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC1 mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 16 16 1.0000 condition_record_support_limited 20 0 16 Malignant_tumor_of_urinary_bladder 739 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP63 mondo_mondo_0007508_medgen_c1785148_omim_129400 Rapp-Hodgkin syndrome MONDO:MONDO:0007508,MedGen:C1785148,OMIM:129400 16 16 1.0000 condition_record_support_limited 20 0 9 Rapp-Hodgkin_syndrome 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP53 human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Acute myeloid leukemia Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 16 16 1.0000 condition_record_support_limited 20 0 7 Acute_myeloid_leukemia 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TMPRSS15 mondo_mondo_0009173_medgen_c0268416_omim_226200_orphanet_168601 Enterokinase deficiency MONDO:MONDO:0009173,MedGen:C0268416,OMIM:226200,Orphanet:168601 16 16 1.0000 condition_record_support_limited 20 0 9 Enterokinase_deficiency 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TK2 mondo_mondo_0014898_medgen_c4310734_omim_617069_orphanet_254886 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 MONDO:MONDO:0014898,MedGen:C4310734,OMIM:617069,Orphanet:254886 16 16 1.0000 condition_record_support_limited 20 0 16 Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_3 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture THOC6 mondo_mondo_0013362_medgen_c3150939_omim_613680_orphanet_363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome MONDO:MONDO:0013362,MedGen:C3150939,OMIM:613680,Orphanet:363444 16 16 1.0000 condition_record_support_limited 20 0 5 THOC6-related_developmental_delay-microcephaly-facial_dysmorphism_syndrome 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TH condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 16 16 1.0000 condition_record_support_limited 20 16 12 not_provided 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TG tg_related_disorder TG-related disorder . 16 16 1.0000 condition_record_support_limited 20 0 9 TG-related_disorder 241 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TEK mondo_mondo_0014998_medgen_c4310639_omim_617272 Glaucoma 3, primary congenital, E MONDO:MONDO:0014998,MedGen:C4310639,OMIM:617272 16 16 1.0000 condition_record_support_limited 20 0 3 Glaucoma_3,_primary_congenital,_E 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 16 16 1.0000 condition_record_support_limited 20 16 1 not_provided 56 compact_adjacent_exon_block_opportunity local_compact_architecture TARDBP medgen_c3150169 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED MedGen:C3150169 16 16 1.0000 condition_record_support_limited 20 0 16 FRONTOTEMPORAL_LOBAR_DEGENERATION_WITH_TDP43_INCLUSIONS,_TARDBP-RELATED 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUFU condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 16 16 1.0000 condition_record_support_limited 20 16 9 not_provided 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUFU mondo_mondo_0958189_medgen_c5830451_omim_620343 Basal cell nevus syndrome 2 MONDO:MONDO:0958189,MedGen:C5830451,OMIM:620343 16 16 1.0000 condition_record_support_limited 20 0 9 Basal_cell_nevus_syndrome_2 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STUB1 condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 9 not_provided 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STK11 mondo_mondo_0007963_medgen_c1835047_omim_155600_orphanet_618 Melanoma, cutaneous malignant, susceptibility to, 1 MONDO:MONDO:0007963,MedGen:C1835047,OMIM:155600,Orphanet:618 16 16 1.0000 condition_record_support_limited 20 0 12 Melanoma,_cutaneous_malignant,_susceptibility_to,_1 395 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control STAG2 mondo_mondo_0026722_medgen_c5193008_omim_301022 Mullegama-Klein-Martinez syndrome MONDO:MONDO:0026722,MedGen:C5193008,OMIM:301022 16 16 1.0000 condition_record_support_limited 20 0 6 Mullegama-Klein-Martinez_syndrome 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SRFBP1 mondo_mondo_0014950_medgen_c4284414_omim_617168 Aortic aneurysm, familial thoracic 10 MONDO:MONDO:0014950,MedGen:C4284414,OMIM:617168 16 16 1.0000 condition_record_support_limited 20 0 9 Aortic_aneurysm,_familial_thoracic_10 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPR human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 16 16 1.0000 condition_record_support_limited 20 0 10 Dystonic_disorder 36 compact_adjacent_exon_block_opportunity local_compact_architecture SPEN mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 16 16 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 101 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SOS1 mondo_mondo_0007609_medgen_c4551558_omim_135300_orphanet_2024 Fibromatosis, gingival, 1 MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300,Orphanet:2024 16 16 1.0000 condition_record_support_limited 20 0 16 Fibromatosis,_gingival,_1 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNX27 mondo_mondo_0100135_medgen_c0751122_omim_607208_orphanet_33069 Severe myoclonic epilepsy in infancy MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208,Orphanet:33069 16 16 1.0000 condition_record_support_limited 20 0 1 Severe_myoclonic_epilepsy_in_infancy 18 low_record_burden_interpretation_limited low_record_burden_gene SMCHD1 mondo_mondo_0011323_medgen_c1863878_omim_603457_orphanet_1135_orphanet_2250 Arrhinia with choanal atresia and microphthalmia syndrome MONDO:MONDO:0011323,MedGen:C1863878,OMIM:603457,Orphanet:1135,Orphanet:2250 16 16 1.0000 condition_record_support_limited 20 0 4 Arrhinia_with_choanal_atresia_and_microphthalmia_syndrome 140 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SLC4A1 mondo_mondo_0008165_medgen_c1862322_omim_166900_orphanet_98868 Southeast Asian ovalocytosis MONDO:MONDO:0008165,MedGen:C1862322,OMIM:166900,Orphanet:98868 16 16 1.0000 condition_record_support_limited 20 0 16 Southeast_Asian_ovalocytosis 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC4A1 mondo_mondo_0021024_medgen_c1970028_omim_611162_orphanet_673 Malaria, susceptibility to MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673 16 16 1.0000 condition_record_support_limited 20 0 16 Malaria,_susceptibility_to 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC4A1 medgen_c1862190_omim_112050 BLOOD GROUP--WRIGHT ANTIGEN MedGen:C1862190,OMIM:112050 16 16 1.0000 condition_record_support_limited 20 0 16 BLOOD_GROUP--WRIGHT_ANTIGEN 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC4A1 medgen_c1862191_omim_112010 BLOOD GROUP--WALDNER TYPE MedGen:C1862191,OMIM:112010 16 16 1.0000 condition_record_support_limited 20 0 16 BLOOD_GROUP--WALDNER_TYPE 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC4A1 medgen_c1832169_omim_601550 BLOOD GROUP--SWANN SYSTEM MedGen:C1832169,OMIM:601550 16 16 1.0000 condition_record_support_limited 20 0 16 BLOOD_GROUP--SWANN_SYSTEM 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC4A1 medgen_c1832168_omim_601551 BLOOD GROUP--FROESE MedGen:C1832168,OMIM:601551 16 16 1.0000 condition_record_support_limited 20 0 16 BLOOD_GROUP--FROESE 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC46A1 mondo_mondo_0009238_medgen_c0342705_omim_229050_orphanet_90045 Congenital defect of folate absorption MONDO:MONDO:0009238,MedGen:C0342705,OMIM:229050,Orphanet:90045 16 16 1.0000 condition_record_support_limited 20 0 9 Congenital_defect_of_folate_absorption 26 compact_adjacent_exon_block_opportunity local_compact_architecture SLC2A2 human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Type 2 diabetes mellitus Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 16 16 1.0000 condition_record_support_limited 20 0 16 Type_2_diabetes_mellitus 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 16 16 1.0000 condition_record_support_limited 20 16 12 not_provided 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A3 renal_tubulopathies Renal tubulopathies . 16 16 1.0000 condition_record_support_limited 20 0 15 Renal_tubulopathies 453 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SIX3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 16 16 1.0000 condition_record_support_limited 20 16 3 not_provided|not_specified 31 compact_adjacent_exon_block_opportunity local_compact_architecture SHANK2 condition_not_provided condition not provided .|MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 4 See_cases|not_provided 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SGPL1 condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 2 not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDCCAG8 sdccag8_related_disorder SDCCAG8-related disorder . 16 16 1.0000 condition_record_support_limited 20 0 12 SDCCAG8-related_disorder 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN1A autosomal_dominant_epilepsy Autosomal dominant epilepsy . 16 16 1.0000 condition_record_support_limited 20 0 12 Autosomal_dominant_epilepsy 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SAR1B condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 5 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RSPH9 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 16 16 1.0000 condition_record_support_limited 20 0 4 Primary_ciliary_dyskinesia 21 compact_adjacent_exon_block_opportunity local_compact_architecture RPS6KA3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 16 16 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RP1L1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 16 16 1.0000 condition_record_support_limited 20 16 2 not_provided 46 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RP1L1 mondo_mondo_0032940_medgen_c5394208_omim_618826 Retinitis pigmentosa 88 MONDO:MONDO:0032940,MedGen:C5394208,OMIM:618826 16 16 1.0000 condition_record_support_limited 20 0 7 Retinitis_pigmentosa_88 46 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RNF14 condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 7 not_provided 31 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RNASEH2B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 16 16 1.0000 condition_record_support_limited 20 16 10 not_provided 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBM10 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 16 16 1.0000 condition_record_support_limited 20 16 3 not_provided 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RASA1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 16 16 1.0000 condition_record_support_limited 20 0 8 Cardiovascular_phenotype 285 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUS3 mondo_mondo_0006037_medgen_c2931104_omim_ps236680_orphanet_2189 Hydrolethalus syndrome MONDO:MONDO:0006037,MedGen:C2931104,OMIM:PS236680,Orphanet:2189 16 16 1.0000 condition_record_support_limited 20 0 4 Hydrolethalus_syndrome 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTS condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 13 not_provided 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 mondo_mondo_0007893_medgen_c0175704_omim_ps151100_orphanet_500 Noonan syndrome with multiple lentigines MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100,Orphanet:500 16 16 1.0000 condition_record_support_limited 20 0 15 Noonan_syndrome_with_multiple_lentigines 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTH1R mondo_mondo_0007434_medgen_c1852222_omim_125350_orphanet_412206 Primary failure of tooth eruption MONDO:MONDO:0007434,MedGen:C1852222,OMIM:125350,Orphanet:412206 16 16 1.0000 condition_record_support_limited 20 0 6 Primary_failure_of_tooth_eruption 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSMB8 mondo_mondo_0009726_medgen_c1850568_omim_ps256040_orphanet_324977 Proteosome-associated autoinflammatory syndrome MONDO:MONDO:0009726,MedGen:C1850568,OMIM:PS256040,Orphanet:324977 16 16 1.0000 condition_record_support_limited 20 0 3 Proteosome-associated_autoinflammatory_syndrome 21 compact_adjacent_exon_block_opportunity local_compact_architecture PRPH2 mondo_mondo_0024561_medgen_cn295869_omim_608161 Vitelliform macular dystrophy 3 MONDO:MONDO:0024561,MedGen:CN295869,OMIM:608161 16 16 1.0000 condition_record_support_limited 20 0 15 Vitelliform_macular_dystrophy_3 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRPF8 mondo_mondo_0010806_medgen_c1838702_omim_600059_orphanet_791 Retinitis pigmentosa 13 MONDO:MONDO:0010806,MedGen:C1838702,OMIM:600059,Orphanet:791 16 16 1.0000 condition_record_support_limited 20 0 12 Retinitis_pigmentosa_13 77 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PPP2R5D condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 12 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP2R1A mondo_mondo_0014605_medgen_c4225352_omim_616362_orphanet_457284 Houge-Janssens syndrome 2 MONDO:MONDO:0014605,MedGen:C4225352,OMIM:616362,Orphanet:457284 16 16 1.0000 condition_record_support_limited 20 0 11 Houge-Janssens_syndrome_2 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLRMT mondo_mondo_0859228_medgen_c5676915_omim_619743 Combined oxidative phosphorylation deficiency 55 MONDO:MONDO:0859228,MedGen:C5676915,OMIM:619743 16 16 1.0000 condition_record_support_limited 20 0 2 Combined_oxidative_phosphorylation_deficiency_55 17 low_record_burden_interpretation_limited low_record_burden_gene PMM2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 16 16 1.0000 condition_record_support_limited 20 0 16 Inborn_genetic_diseases 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLCB4 mondo_mondo_0013845_medgen_c3553404_omim_614669_orphanet_137888 Auriculocondylar syndrome 2 MONDO:MONDO:0013845,MedGen:C3553404,OMIM:614669,Orphanet:137888 16 16 1.0000 condition_record_support_limited 20 0 6 Auriculocondylar_syndrome_2 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD1L1 pkd1l1_related_disorder PKD1L1-related disorder . 16 16 1.0000 condition_record_support_limited 20 0 6 PKD1L1-related_disorder 60 large_gene_or_donor_burden_stress_case donor_burden_stress PIK3CA human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Ovarian neoplasm Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 16 16 1.0000 condition_record_support_limited 20 0 14 Ovarian_neoplasm 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGT condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 16 16 1.0000 condition_record_support_limited 20 16 14 not_provided|not_specified 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHOX2B condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 12 not_provided 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHOX2B phox2b_related_disorder PHOX2B-related disorder . 16 16 1.0000 condition_record_support_limited 20 0 9 PHOX2B-related_disorder 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHIP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 16 16 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 177 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PHF8 mondo_mondo_0010286_medgen_c1846055_omim_300263_orphanet_85287 Syndromic X-linked intellectual disability Siderius type MONDO:MONDO:0010286,MedGen:C1846055,OMIM:300263,Orphanet:85287 16 16 1.0000 condition_record_support_limited 20 0 1 Syndromic_X-linked_intellectual_disability_Siderius_type 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PGAP3 condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 10 not_provided 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX5 mondo_mondo_0014743_medgen_c4225237_omim_616716_orphanet_468717 Rhizomelic chondrodysplasia punctata type 5 MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716,Orphanet:468717 16 16 1.0000 condition_record_support_limited 20 0 14 Rhizomelic_chondrodysplasia_punctata_type_5 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX10 condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 13 not_provided 142 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE4D mondo_mondo_0013822_medgen_c3553250_omim_614613_orphanet_280651 Acrodysostosis 2 with or without hormone resistance MONDO:MONDO:0013822,MedGen:C3553250,OMIM:614613,Orphanet:280651 16 16 1.0000 condition_record_support_limited 20 0 4 Acrodysostosis_2_with_or_without_hormone_resistance 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCDH12 condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 7 not_provided 31 compact_adjacent_exon_block_opportunity local_compact_architecture PADI6 medgen_c4310659_omim_617234 Preimplantation embryonic lethality 2 MedGen:C4310659,OMIM:617234 16 16 1.0000 condition_record_support_limited 20 0 0 Preimplantation_embryonic_lethality_2 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ORC1 mondo_mondo_0009143_medgen_c4552001_omim_224690_orphanet_2554 Meier-Gorlin syndrome 1 MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690,Orphanet:2554 16 16 1.0000 condition_record_support_limited 20 0 4 Meier-Gorlin_syndrome_1 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA3 mondo_mondo_0008133_medgen_c1833809_omim_165300_orphanet_67036 Optic atrophy 3 MONDO:MONDO:0008133,MedGen:C1833809,OMIM:165300,Orphanet:67036 16 16 1.0000 condition_record_support_limited 20 0 14 Optic_atrophy_3 38 compact_adjacent_exon_block_opportunity local_compact_architecture OFD1 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 16 16 1.0000 condition_record_support_limited 20 0 9 Primary_ciliary_dyskinesia 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OCLN mondo_mondo_0020789_medgen_c4552078_omim_251290_orphanet_1229 Pseudo-TORCH syndrome 1 MONDO:MONDO:0020789,MedGen:C4552078,OMIM:251290,Orphanet:1229 16 16 1.0000 condition_record_support_limited 20 0 1 Pseudo-TORCH_syndrome_1 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NUS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 16 16 1.0000 condition_record_support_limited 20 16 5 not_provided 81 compact_adjacent_exon_block_opportunity local_compact_architecture NPR2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 16 16 1.0000 condition_record_support_limited 20 16 9 not_provided 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPC1 npc1_related_disorder NPC1-related disorder . 16 16 1.0000 condition_record_support_limited 20 0 15 NPC1-related_disorder 634 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NICN1 human_phenotype_ontology_hp_0008288_mondo_mondo_0011612_medgen_c0751748_omim_ps605899_orphanet_407 Glycine encephalopathy Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407 16 16 1.0000 condition_record_support_limited 20 0 6 Glycine_encephalopathy 17 low_record_burden_interpretation_limited low_record_burden_gene NHS condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 16 16 1.0000 condition_record_support_limited 20 16 4 not_provided 76 compact_adjacent_exon_block_opportunity local_compact_architecture NF1 human_phenotype_ontology_hp_0007416_human_phenotype_ontology_hp_0007565_mondo_mondo_0007245_medgen_c1861975_omim_114030_orphanet_2678 Cafe au lait spots, multiple Human_Phenotype_Ontology:HP:0007416,Human_Phenotype_Ontology:HP:0007565,MONDO:MONDO:0007245,MedGen:C1861975,OMIM:114030,Orphanet:2678 16 16 1.0000 condition_record_support_limited 20 0 15 Cafe_au_lait_spots,_multiple 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NEU1 mondo_mondo_0017734_medgen_c0268226_orphanet_309294 Sialidosis MONDO:MONDO:0017734,MedGen:C0268226,Orphanet:309294 16 16 1.0000 condition_record_support_limited 20 0 15 Sialidosis 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAA15 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 16 16 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYOC mondo_mondo_0007664_medgen_c1842028_omim_137750_orphanet_98977 Glaucoma 1, open angle, A MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750,Orphanet:98977 16 16 1.0000 condition_record_support_limited 20 0 16 Glaucoma_1,_open_angle,_A 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO1E mondo_mondo_0013589_medgen_c3279905_omim_614131_orphanet_656 Focal segmental glomerulosclerosis 6 MONDO:MONDO:0013589,MedGen:C3279905,OMIM:614131,Orphanet:656 16 16 1.0000 condition_record_support_limited 20 0 2 Focal_segmental_glomerulosclerosis_6 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYCBP2 condition_not_provided condition not provided .|MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 0 See_cases|not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene MTHFR human_phenotype_ontology_hp_0100753_mondo_mondo_0005090_mesh_d012559_medgen_c0036341_omim_181500 Schizophrenia Human_Phenotype_Ontology:HP:0100753,MONDO:MONDO:0005090,MeSH:D012559,MedGen:C0036341,OMIM:181500 16 16 1.0000 condition_record_support_limited 20 0 16 Schizophrenia 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTHFD1 mondo_mondo_0060611_medgen_c4540434_omim_617780_orphanet_658813 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia MONDO:MONDO:0060611,MedGen:C4540434,OMIM:617780,Orphanet:658813 16 16 1.0000 condition_record_support_limited 20 0 11 Combined_immunodeficiency_and_megaloblastic_anemia_with_or_without_hyperhomocysteinemia 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSN condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 2 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene MERTK human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 16 16 1.0000 condition_record_support_limited 20 0 9 Retinitis_pigmentosa 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEIS2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 16 16 1.0000 condition_record_support_limited 20 16 6 not_provided 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEFV mondo_mondo_0018088_medgen_c0031069_omim_249100_orphanet_342 Familial Mediterranean fever MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342 16 16 1.0000 condition_record_support_limited 20 0 11 Familial_Mediterranean_fever 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED13L human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 16 16 1.0000 condition_record_support_limited 20 0 8 Intellectual_disability 284 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12 mondo_mondo_0002010_medgen_c0220769_omim_ps305450 FG syndrome MONDO:MONDO:0002010,MedGen:C0220769,OMIM:PS305450 16 16 1.0000 condition_record_support_limited 20 0 9 FG_syndrome 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MC4R medgen_c4013980 Early onset severe obesity MedGen:C4013980 16 16 1.0000 condition_record_support_limited 20 0 7 Early_onset_severe_obesity 59 single_exon_hotspot_opportunity local_compact_architecture MBTPS1 condition_not_provided condition not provided .|MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 1 See_cases|not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP3K7 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 16 16 1.0000 condition_record_support_limited 20 16 5 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP1B condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 10 not_provided 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MAK human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 16 16 1.0000 condition_record_support_limited 20 0 10 Retinal_dystrophy 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAF mondo_mondo_0010992_medgen_c1832812_omim_601088 Ayme-Gripp syndrome MONDO:MONDO:0010992,MedGen:C1832812,OMIM:601088 16 16 1.0000 condition_record_support_limited 20 0 11 Ayme-Gripp_syndrome 40 compact_adjacent_exon_block_opportunity local_compact_architecture LYST condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 8 not_provided 272 large_gene_or_donor_burden_stress_case donor_burden_stress LRP5 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 16 16 1.0000 condition_record_support_limited 20 0 11 Retinal_dystrophy 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LOX mondo_mondo_0014950_medgen_c4284414_omim_617168 Aortic aneurysm, familial thoracic 10 MONDO:MONDO:0014950,MedGen:C4284414,OMIM:617168 16 16 1.0000 condition_record_support_limited 20 0 9 Aortic_aneurysm,_familial_thoracic_10 54 compact_adjacent_exon_block_opportunity local_compact_architecture LGI1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 16 16 1.0000 condition_record_support_limited 20 16 6 not_provided 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LCAT condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 10 not_provided 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LCAT mondo_mondo_0009515_medgen_c0023195_omim_245900_orphanet_79293 Norum disease MONDO:MONDO:0009515,MedGen:C0023195,OMIM:245900,Orphanet:79293 16 16 1.0000 condition_record_support_limited 20 0 14 Norum_disease 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMA5 mondo_mondo_0031061_medgen_c5774221_omim_620049 Nephrotic syndrome, IIa 26 MONDO:MONDO:0031061,MedGen:C5774221,OMIM:620049 16 16 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome,_IIa_26 24 large_gene_or_donor_burden_stress_case donor_burden_stress L1CAM mondo_mondo_0010569_medgen_c1839909_omim_304100_orphanet_1497 X-linked complicated corpus callosum dysgenesis MONDO:MONDO:0010569,MedGen:C1839909,OMIM:304100,Orphanet:1497 16 16 1.0000 condition_record_support_limited 20 0 14 X-linked_complicated_corpus_callosum_dysgenesis 203 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRTCAP3 mondo_mondo_0014284_medgen_c3810175_omim_615630_orphanet_474 Short-rib thoracic dysplasia 10 with or without polydactyly MONDO:MONDO:0014284,MedGen:C3810175,OMIM:615630,Orphanet:474 16 16 1.0000 condition_record_support_limited 20 0 16 Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly 17 low_record_burden_interpretation_limited low_record_burden_gene KRT9 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 16 16 1.0000 condition_record_support_limited 20 16 13 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene KRT14 mondo_mondo_0007550_medgen_c0079295_omim_131760_orphanet_79396 Epidermolysis bullosa simplex 1A, generalized severe MONDO:MONDO:0007550,MedGen:C0079295,OMIM:131760,Orphanet:79396 16 16 1.0000 condition_record_support_limited 20 0 12 Epidermolysis_bullosa_simplex_1A,_generalized_severe 76 compact_adjacent_exon_block_opportunity local_compact_architecture KRIT1 krit1_related_disorder KRIT1-related disorder . 16 16 1.0000 condition_record_support_limited 20 0 10 KRIT1-related_disorder 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS human_phenotype_ontology_hp_0030358_mondo_mondo_0005233_mesh_d002289_medgen_c0007131 Non-small cell lung carcinoma Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131 16 16 1.0000 condition_record_support_limited 20 0 13 Non-small_cell_lung_carcinoma 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ5 condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 3 not_provided 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNH2 mondo_mondo_0012312_medgen_c1865020_omim_609620_orphanet_51083 Short QT syndrome type 1 MONDO:MONDO:0012312,MedGen:C1865020,OMIM:609620,Orphanet:51083 16 16 1.0000 condition_record_support_limited 20 0 16 Short_QT_syndrome_type_1 720 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KARS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 16 16 1.0000 condition_record_support_limited 20 16 6 not_provided|not_specified 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JAG1 mondo_mondo_0030458_medgen_c5562003_omim_619574 Charcot-Marie-Tooth disease, axonal, Type 2HH MONDO:MONDO:0030458,MedGen:C5562003,OMIM:619574 16 16 1.0000 condition_record_support_limited 20 0 14 Charcot-Marie-Tooth_disease,_axonal,_Type_2HH 461 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGB3 mondo_mondo_0012039_medgen_c1832662_omim_608446 Myocardial infarction, susceptibility to MONDO:MONDO:0012039,MedGen:C1832662,OMIM:608446 16 16 1.0000 condition_record_support_limited 20 0 16 Myocardial_infarction,_susceptibility_to 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INS condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 16 16 1.0000 condition_record_support_limited 20 16 12 not_provided|not_specified 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INPP5E mondo_mondo_0012423_medgen_c1857802_omim_610156_orphanet_75858 MORM syndrome MONDO:MONDO:0012423,MedGen:C1857802,OMIM:610156,Orphanet:75858 16 16 1.0000 condition_record_support_limited 20 0 16 MORM_syndrome 79 compact_adjacent_exon_block_opportunity local_compact_architecture IL1RAPL1 mondo_mondo_0010256_medgen_c5551510_omim_300143_orphanet_777 Intellectual disability, X-linked 21 MONDO:MONDO:0010256,MedGen:C5551510,OMIM:300143,Orphanet:777 16 16 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability,_X-linked_21 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL10RB mondo_mondo_0012941_medgen_c2675508_omim_612567_orphanet_238569 Inflammatory bowel disease 25 MONDO:MONDO:0012941,MedGen:C2675508,OMIM:612567,Orphanet:238569 16 16 1.0000 condition_record_support_limited 20 0 1 Inflammatory_bowel_disease_25 19 low_record_burden_interpretation_limited low_record_burden_gene IKBKG mondo_mondo_0010631_medgen_c0021171_omim_308300_orphanet_464 Incontinentia pigmenti syndrome MONDO:MONDO:0010631,MedGen:C0021171,OMIM:308300,Orphanet:464 16 16 1.0000 condition_record_support_limited 20 0 10 Incontinentia_pigmenti_syndrome 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT172 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 16 16 1.0000 condition_record_support_limited 20 16 10 not_provided 157 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture IFNGR1 medgen_c0694566 Disseminated atypical mycobacterial infection MedGen:C0694566 16 16 1.0000 condition_record_support_limited 20 0 5 Disseminated_atypical_mycobacterial_infection 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HYLS1 mondo_mondo_0006037_medgen_c2931104_omim_ps236680_orphanet_2189 Hydrolethalus syndrome MONDO:MONDO:0006037,MedGen:C2931104,OMIM:PS236680,Orphanet:2189 16 16 1.0000 condition_record_support_limited 20 0 4 Hydrolethalus_syndrome 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSD11B2 mondo_mondo_0009025_medgen_c0342488_omim_218030_orphanet_320 Apparent mineralocorticoid excess MONDO:MONDO:0009025,MedGen:C0342488,OMIM:218030,Orphanet:320 16 16 1.0000 condition_record_support_limited 20 0 3 Apparent_mineralocorticoid_excess 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPSE2 mondo_mondo_0009368_medgen_cn033872_omim_236730_orphanet_2704 Urofacial syndrome type 1 MONDO:MONDO:0009368,MedGen:CN033872,OMIM:236730,Orphanet:2704 16 16 1.0000 condition_record_support_limited 20 0 8 Urofacial_syndrome_type_1 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HGSNAT mondo_mondo_0018937_medgen_c0026706_orphanet_581 Sanfilippo syndrome MONDO:MONDO:0018937,MedGen:C0026706,Orphanet:581 16 16 1.0000 condition_record_support_limited 20 0 15 Sanfilippo_syndrome 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEPACAM condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 16 16 1.0000 condition_record_support_limited 20 16 6 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCA1A condition_not_provided condition not provided .|MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 14 See_cases|not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRN human_phenotype_ontology_hp_0002145_mondo_mondo_0017276_medgen_c0338451_omim_600274_orphanet_282 Frontotemporal dementia Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282 16 16 1.0000 condition_record_support_limited 20 0 8 Frontotemporal_dementia 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GREB1L condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 4 not_provided 86 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture GP6 condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 2 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene GORAB mondo_mondo_0009271_medgen_c0432255_omim_231070_orphanet_2078 Geroderma osteodysplastica MONDO:MONDO:0009271,MedGen:C0432255,OMIM:231070,Orphanet:2078 16 16 1.0000 condition_record_support_limited 20 0 7 Geroderma_osteodysplastica 49 compact_adjacent_exon_block_opportunity local_compact_architecture GNAT2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 16 16 1.0000 condition_record_support_limited 20 16 4 not_provided 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS mondo_mondo_0054665_medgen_c4540135_omim_617686 Pituitary adenoma 3, multiple types MONDO:MONDO:0054665,MedGen:C4540135,OMIM:617686 16 16 1.0000 condition_record_support_limited 20 0 15 Pituitary_adenoma_3,_multiple_types 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 16 16 1.0000 condition_record_support_limited 20 0 10 Inborn_genetic_diseases 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GH1 mondo_mondo_0008250_medgen_c0271567_omim_173100_orphanet_231679_orphanet_631 Autosomal dominant isolated somatotropin deficiency MONDO:MONDO:0008250,MedGen:C0271567,OMIM:173100,Orphanet:231679,Orphanet:631 16 16 1.0000 condition_record_support_limited 20 0 5 Autosomal_dominant_isolated_somatotropin_deficiency 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA4 mondo_mondo_0013747_medgen_c3280781_omim_614430 Atrioventricular septal defect 4 MONDO:MONDO:0013747,MedGen:C3280781,OMIM:614430 16 16 1.0000 condition_record_support_limited 20 0 3 Atrioventricular_septal_defect_4 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GARS1 mondo_mondo_0018993_medgen_c0270914_orphanet_64746 Charcot-Marie-Tooth disease type 2 MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746 16 16 1.0000 condition_record_support_limited 20 0 10 Charcot-Marie-Tooth_disease_type_2 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALK1 mondo_mondo_0030768_medgen_c5676956_omim_619816 Epidermolysis bullosa, junctional 5A, intermediate MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816 16 16 1.0000 condition_record_support_limited 20 0 14 Epidermolysis_bullosa,_junctional_5A,_intermediate 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FSIP2 mondo_mondo_0029148_medgen_c4748403_omim_618153 Spermatogenic failure 34 MONDO:MONDO:0029148,MedGen:C4748403,OMIM:618153 16 16 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_34 21 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FSHR mondo_mondo_0024463_medgen_c0949595_omim_233300_orphanet_243 Ovarian dysgenesis 1 MONDO:MONDO:0024463,MedGen:C0949595,OMIM:233300,Orphanet:243 16 16 1.0000 condition_record_support_limited 20 0 2 Ovarian_dysgenesis_1 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXC1 mondo_mondo_0024456_medgen_c5975707_omim_601631_orphanet_91483 Anterior segment dysgenesis 3 MONDO:MONDO:0024456,MedGen:C5975707,OMIM:601631,Orphanet:91483 16 16 1.0000 condition_record_support_limited 20 0 7 Anterior_segment_dysgenesis_3 150 single_exon_hotspot_opportunity local_compact_architecture FKTN cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 16 16 1.0000 condition_record_support_limited 20 0 15 Cardiovascular_phenotype 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 Autosomal recessive limb-girdle muscular dystrophy MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 16 16 1.0000 condition_record_support_limited 20 0 14 Autosomal_recessive_limb-girdle_muscular_dystrophy 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FIG4 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 16 16 1.0000 condition_record_support_limited 20 0 15 Charcot-Marie-Tooth_disease 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 mondo_mondo_0007872_medgen_c0265269_omim_ps149730_orphanet_2363 Levy-Hollister syndrome MONDO:MONDO:0007872,MedGen:C0265269,OMIM:PS149730,Orphanet:2363 16 16 1.0000 condition_record_support_limited 20 0 12 Levy-Hollister_syndrome 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAT4 mondo_mondo_0014242_medgen_c3809875_omim_615546_orphanet_314679 Van Maldergem syndrome 2 MONDO:MONDO:0014242,MedGen:C3809875,OMIM:615546,Orphanet:314679 16 16 1.0000 condition_record_support_limited 20 0 9 Van_Maldergem_syndrome_2 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FAM20C mondo_mondo_0009821_medgen_c1850106_omim_259775_orphanet_1832 Lethal osteosclerotic bone dysplasia MONDO:MONDO:0009821,MedGen:C1850106,OMIM:259775,Orphanet:1832 16 16 1.0000 condition_record_support_limited 20 0 2 Lethal_osteosclerotic_bone_dysplasia 27 compact_adjacent_exon_block_opportunity local_compact_architecture FA2H condition_not_provided condition not provided .|MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 12 See_cases|not_provided 63 compact_adjacent_exon_block_opportunity local_compact_architecture EYS eys_related_disorder EYS-related disorder . 16 16 1.0000 condition_record_support_limited 20 0 16 EYS-related_disorder 1068 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EMD mondo_mondo_0100531_medgen_c5243475_omim_310300 Emery-Dreifuss muscular dystrophy 1, X-linked MONDO:MONDO:0100531,MedGen:C5243475,OMIM:310300 16 16 1.0000 condition_record_support_limited 20 0 8 Emery-Dreifuss_muscular_dystrophy_1,_X-linked 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EHMT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 16 16 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EGFR human_phenotype_ontology_hp_0030358_mondo_mondo_0005233_mesh_d002289_medgen_c0007131 Non-small cell lung carcinoma Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131 16 16 1.0000 condition_record_support_limited 20 0 3 Non-small_cell_lung_carcinoma 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EDNRB mondo_mondo_0010192_medgen_c1848519_omim_277580_orphanet_897 Waardenburg syndrome type 4A MONDO:MONDO:0010192,MedGen:C1848519,OMIM:277580,Orphanet:897 16 16 1.0000 condition_record_support_limited 20 0 5 Waardenburg_syndrome_type_4A 41 compact_adjacent_exon_block_opportunity local_compact_architecture DYNC2LI1 mondo_mondo_0020748_medgen_c5231453_omim_618666 Sitosterolemia 2 MONDO:MONDO:0020748,MedGen:C5231453,OMIM:618666 16 16 1.0000 condition_record_support_limited 20 0 11 Sitosterolemia_2 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJC12 mondo_mondo_0044304_medgen_c4479270_omim_617384_orphanet_508523 Hyperphenylalaninemia due to DNAJC12 deficiency MONDO:MONDO:0044304,MedGen:C4479270,OMIM:617384,Orphanet:508523 16 16 1.0000 condition_record_support_limited 20 0 6 Hyperphenylalaninemia_due_to_DNAJC12_deficiency 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIPK1A condition_not_provided condition not provided .|MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 4 See_cases|not_provided 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DICER1 mondo_mondo_0859046_medgen_c1867234_omim_180295 Rhabdomyosarcoma, embryonal, 2 MONDO:MONDO:0859046,MedGen:C1867234,OMIM:180295 16 16 1.0000 condition_record_support_limited 20 0 15 Rhabdomyosarcoma,_embryonal,_2 833 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control DDX3X human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 16 16 1.0000 condition_record_support_limited 20 0 8 Intellectual_disability 366 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP21A2 human_phenotype_ontology_hp_0008258_mondo_mondo_0018479_medgen_c0001627_orphanet_418 Congenital adrenal hyperplasia Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418 16 16 1.0000 condition_record_support_limited 20 0 11 Congenital_adrenal_hyperplasia 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYLD mondo_mondo_0011512_medgen_c1857941_omim_605041_orphanet_79493 Brooke-Spiegler syndrome MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041,Orphanet:79493 16 16 1.0000 condition_record_support_limited 20 0 8 Brooke-Spiegler_syndrome 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTRC mondo_mondo_0008185_medgen_c0238339_omim_167800_orphanet_676 Hereditary pancreatitis MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676 16 16 1.0000 condition_record_support_limited 20 0 2 Hereditary_pancreatitis 17 low_record_burden_interpretation_limited low_record_burden_gene COL6A2 mondo_mondo_0958233_medgen_c5935580_omim_620725 Bethlem myopathy 1B MONDO:MONDO:0958233,MedGen:C5935580,OMIM:620725 16 16 1.0000 condition_record_support_limited 20 0 14 Bethlem_myopathy_1B 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL5A1 mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 Ehlers-Danlos syndrome MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 16 16 1.0000 condition_record_support_limited 20 0 9 Ehlers-Danlos_syndrome 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A2 mondo_mondo_0013795_medgen_c3281128_omim_614524_orphanet_2021 Fibrochondrogenesis 2 MONDO:MONDO:0013795,MedGen:C3281128,OMIM:614524,Orphanet:2021 16 16 1.0000 condition_record_support_limited 20 0 13 Fibrochondrogenesis_2 197 large_gene_or_donor_burden_stress_case donor_burden_stress CLCN1 skeletal_muscle_channelopathy Skeletal muscle channelopathy . 16 16 1.0000 condition_record_support_limited 20 0 9 Skeletal_muscle_channelopathy 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 mondo_mondo_0100468_medgen_c0027127_omim_255300_orphanet_206973 Batten-Turner congenital myopathy MONDO:MONDO:0100468,MedGen:C0027127,OMIM:255300,Orphanet:206973 16 16 1.0000 condition_record_support_limited 20 0 15 Batten-Turner_congenital_myopathy 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CKAP2L mondo_mondo_0010092_medgen_c0795940_omim_272440_orphanet_3255 Filippi syndrome MONDO:MONDO:0010092,MedGen:C0795940,OMIM:272440,Orphanet:3255 16 16 1.0000 condition_record_support_limited 20 0 5 Filippi_syndrome 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHEK2 human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Prostate cancer Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 16 16 1.0000 condition_record_support_limited 20 0 16 Prostate_cancer 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CFAP410 mondo_mondo_0060507_medgen_c4479651_omim_617547_orphanet_653709 Retinal dystrophy with or without macular staphyloma MONDO:MONDO:0060507,MedGen:C4479651,OMIM:617547,Orphanet:653709 16 16 1.0000 condition_record_support_limited 20 0 10 Retinal_dystrophy_with_or_without_macular_staphyloma 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP300 condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 8 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC73 mondo_mondo_0007767_medgen_c1840402_omim_145000_orphanet_99879 Hyperparathyroidism 1 MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000,Orphanet:99879 16 16 1.0000 condition_record_support_limited 20 0 13 Hyperparathyroidism_1 152 compact_adjacent_exon_block_opportunity local_compact_architecture CD3D mondo_mondo_0014280_medgen_c3810147_omim_615617 Immunodeficiency 19 MONDO:MONDO:0014280,MedGen:C3810147,OMIM:615617 16 16 1.0000 condition_record_support_limited 20 0 2 Immunodeficiency_19 17 low_record_burden_interpretation_limited low_record_burden_gene CD36 cd36_related_disorder CD36-related disorder . 16 16 1.0000 condition_record_support_limited 20 0 8 CD36-related_disorder 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCNO mondo_mondo_0014378_medgen_c4014534_omim_615872_orphanet_244 Primary ciliary dyskinesia 29 MONDO:MONDO:0014378,MedGen:C4014534,OMIM:615872,Orphanet:244 16 16 1.0000 condition_record_support_limited 20 0 8 Primary_ciliary_dyskinesia_29 37 compact_adjacent_exon_block_opportunity local_compact_architecture CBS cbs_related_disorder CBS-related disorder . 16 16 1.0000 condition_record_support_limited 20 0 16 CBS-related_disorder 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASQ2 condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 13 not_provided 79 compact_adjacent_exon_block_opportunity local_compact_architecture CAPN3 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 16 16 1.0000 condition_record_support_limited 20 0 11 Abnormality_of_the_musculature 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CALM2 mondo_mondo_0100316_medgen_c4551647_omim_192500_orphanet_101016_orphanet_768 Long QT syndrome 1 MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768 16 16 1.0000 condition_record_support_limited 20 0 9 Long_QT_syndrome_1 19 low_record_burden_interpretation_limited low_record_burden_gene CACNA1F mondo_mondo_0010335_medgen_c1845407_omim_300476_orphanet_1872 X-linked cone-rod dystrophy 3 MONDO:MONDO:0010335,MedGen:C1845407,OMIM:300476,Orphanet:1872 16 16 1.0000 condition_record_support_limited 20 0 8 X-linked_cone-rod_dystrophy_3 189 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1C cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 16 16 1.0000 condition_record_support_limited 20 0 9 Cardiovascular_phenotype 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture C3 mondo_mondo_0013043_medgen_c2752037_omim_612925_orphanet_2134 Atypical hemolytic-uremic syndrome with C3 anomaly MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925,Orphanet:2134 16 16 1.0000 condition_record_support_limited 20 0 15 Atypical_hemolytic-uremic_syndrome_with_C3_anomaly 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BSCL2 mondo_mondo_0014402_medgen_c4014700_omim_615924_orphanet_363400 Severe neurodegenerative syndrome with lipodystrophy MONDO:MONDO:0014402,MedGen:C4014700,OMIM:615924,Orphanet:363400 16 16 1.0000 condition_record_support_limited 20 0 14 Severe_neurodegenerative_syndrome_with_lipodystrophy 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BSCL2 mondo_mondo_0018883_medgen_cn262437_orphanet_528 Berardinelli-Seip congenital lipodystrophy MONDO:MONDO:0018883,MedGen:CN262437,Orphanet:528 16 16 1.0000 condition_record_support_limited 20 0 16 Berardinelli-Seip_congenital_lipodystrophy 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 Noonan syndrome 1 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 16 16 1.0000 condition_record_support_limited 20 0 15 Noonan_syndrome_1 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS9 bbs9_related_disorder BBS9-related disorder . 16 16 1.0000 condition_record_support_limited 20 0 14 BBS9-related_disorder 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B3GLCT mondo_mondo_0009856_medgen_c0796012_omim_261540_orphanet_709 Peters plus syndrome MONDO:MONDO:0009856,MedGen:C0796012,OMIM:261540,Orphanet:709 16 16 1.0000 condition_record_support_limited 20 0 3 Peters_plus_syndrome 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V1A mondo_mondo_0020632_medgen_c4693934_omim_618012 Developmental and epileptic encephalopathy 93 MONDO:MONDO:0020632,MedGen:C4693934,OMIM:618012 16 16 1.0000 condition_record_support_limited 20 0 5 Developmental_and_epileptic_encephalopathy_93 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASPH mondo_mondo_0011106_medgen_c1832167_omim_601552_orphanet_412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome MONDO:MONDO:0011106,MedGen:C1832167,OMIM:601552,Orphanet:412022 16 16 1.0000 condition_record_support_limited 20 0 2 Facial_dysmorphism-lens_dislocation-anterior_segment_abnormalities-spontaneous_filtering_blebs_syndrome 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASCC1 mondo_mondo_0014807_medgen_c4225176_omim_616867 Spinal muscular atrophy with congenital bone fractures 2 MONDO:MONDO:0014807,MedGen:C4225176,OMIM:616867 16 16 1.0000 condition_record_support_limited 20 0 8 Spinal_muscular_atrophy_with_congenital_bone_fractures_2 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARPC1B condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 4 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARHGEF9 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 16 16 1.0000 condition_record_support_limited 20 16 7 not_provided 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP5Z1 condition_not_provided condition not provided MedGen:C3661900 16 16 1.0000 condition_record_support_limited 20 16 11 not_provided 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANK2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 16 16 1.0000 condition_record_support_limited 20 0 7 Cardiovascular_phenotype 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALDH1A3 mondo_mondo_0014050_medgen_c3554524_omim_615113_orphanet_2542 Isolated microphthalmia 8 MONDO:MONDO:0014050,MedGen:C3554524,OMIM:615113,Orphanet:2542 16 16 1.0000 condition_record_support_limited 20 0 2 Isolated_microphthalmia_8 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AKR1D1 mondo_mondo_0009339_medgen_c1856127_omim_235555_orphanet_79303 Congenital bile acid synthesis defect 2 MONDO:MONDO:0009339,MedGen:C1856127,OMIM:235555,Orphanet:79303 16 16 1.0000 condition_record_support_limited 20 0 4 Congenital_bile_acid_synthesis_defect_2 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGTPBP1 mondo_mondo_0032650_medgen_c4748934_omim_618276 Neurodegeneration, childhood-onset, with cerebellar atrophy MONDO:MONDO:0032650,MedGen:C4748934,OMIM:618276 16 16 1.0000 condition_record_support_limited 20 0 3 Neurodegeneration,_childhood-onset,_with_cerebellar_atrophy 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AEBP1 mondo_mondo_0054813_medgen_c4693870_omim_618000_orphanet_536532 Ehlers-Danlos syndrome, classic-like, 2 MONDO:MONDO:0054813,MedGen:C4693870,OMIM:618000,Orphanet:536532 16 16 1.0000 condition_record_support_limited 20 0 8 Ehlers-Danlos_syndrome,_classic-like,_2 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRG1 mondo_mondo_0014333_medgen_c3810405_omim_615752 Polymicrogyria, bilateral perisylvian, autosomal recessive MONDO:MONDO:0014333,MedGen:C3810405,OMIM:615752 16 16 1.0000 condition_record_support_limited 20 0 16 Polymicrogyria,_bilateral_perisylvian,_autosomal_recessive 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTG2 mondo_mondo_0030329_medgen_c5543636_omim_619431 Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431 16 16 1.0000 condition_record_support_limited 20 0 10 Megacystis-microcolon-intestinal_hypoperistalsis_syndrome_5 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCG5 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 16 16 1.0000 condition_record_support_limited 20 0 11 Cardiovascular_phenotype 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA4 human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 16 16 1.0000 condition_record_support_limited 20 0 14 Macular_dystrophy 1464 large_gene_or_donor_burden_stress_case donor_burden_stress AASS human_phenotype_ontology_hp_0002161_mondo_mondo_0009388_medgen_c0268553_orphanet_2203 Hyperlysinemia Human_Phenotype_Ontology:HP:0002161,MONDO:MONDO:0009388,MedGen:C0268553,Orphanet:2203 16 16 1.0000 condition_record_support_limited 20 0 3 Hyperlysinemia 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZMYM2 mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 15 15 1.0000 condition_record_support_limited 20 0 7 Congenital_anomaly_of_kidney_and_urinary_tract 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XRCC2 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 15 15 1.0000 condition_record_support_limited 20 0 2 Hereditary_cancer-predisposing_syndrome 16 low_record_burden_interpretation_limited low_record_burden_gene WHRN mondo_mondo_0012662_medgen_c1568249_omim_611383_orphanet_231178_orphanet_886 Usher syndrome type 2D MONDO:MONDO:0012662,MedGen:C1568249,OMIM:611383,Orphanet:231178,Orphanet:886 15 15 1.0000 condition_record_support_limited 20 0 11 Usher_syndrome_type_2D 55 compact_adjacent_exon_block_opportunity local_compact_architecture WFS1 mondo_mondo_0700293_medgen_cn379391 WFS1-related disorder MONDO:MONDO:0700293,MedGen:CN379391 15 15 1.0000 condition_record_support_limited 20 0 13 WFS1-related_disorder 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WBP11 mondo_mondo_0030987_medgen_c5543189_omim_619227 Vertebral, cardiac, tracheoesophageal, renal, and limb defects MONDO:MONDO:0030987,MedGen:C5543189,OMIM:619227 15 15 1.0000 condition_record_support_limited 20 0 4 Vertebral,_cardiac,_tracheoesophageal,_renal,_and_limb_defects 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VWF mondo_mondo_0015629_medgen_c1282971_orphanet_166087 Von Willebrand disease type 2B MONDO:MONDO:0015629,MedGen:C1282971,Orphanet:166087 15 15 1.0000 condition_record_support_limited 20 0 14 Von_Willebrand_disease_type_2B 454 large_gene_or_donor_burden_stress_case donor_burden_stress VPS45 mondo_mondo_0014118_medgen_c3809031_omim_615285_orphanet_369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome MONDO:MONDO:0014118,MedGen:C3809031,OMIM:615285,Orphanet:369852 15 15 1.0000 condition_record_support_limited 20 0 1 Congenital_neutropenia-myelofibrosis-nephromegaly_syndrome 16 low_record_burden_interpretation_limited low_record_burden_gene VCAN human_phenotype_ontology_hp_0030673_mondo_mondo_0007740_medgen_c1840452_omim_143200_orphanet_898 Wagner disease Human_Phenotype_Ontology:HP:0030673,MONDO:MONDO:0007740,MedGen:C1840452,OMIM:143200,Orphanet:898 15 15 1.0000 condition_record_support_limited 20 0 8 Wagner_disease 25 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture USH2A monogenic_hearing_loss Monogenic hearing loss . 15 15 1.0000 condition_record_support_limited 20 0 12 Monogenic_hearing_loss 2100 large_gene_or_donor_burden_stress_case donor_burden_stress UPB1 condition_not_provided condition not provided MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 6 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UNC13D mondo_mondo_0019751_medgen_c3890737_orphanet_93665 Autoinflammatory syndrome MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 15 15 1.0000 condition_record_support_limited 20 0 10 Autoinflammatory_syndrome 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUSC3 mondo_mondo_0012615_medgen_c1970197_omim_611093_orphanet_88616 Intellectual disability, autosomal recessive 7 MONDO:MONDO:0012615,MedGen:C1970197,OMIM:611093,Orphanet:88616 15 15 1.0000 condition_record_support_limited 20 0 6 Intellectual_disability,_autosomal_recessive_7 19 low_record_burden_interpretation_limited low_record_burden_gene TTC7A condition_not_provided condition not provided .|MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 9 See_cases|not_provided 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN54 mondo_mondo_0010190_medgen_c1848526_omim_277470_orphanet_2524 Pontocerebellar hypoplasia type 2A MONDO:MONDO:0010190,MedGen:C1848526,OMIM:277470,Orphanet:2524 15 15 1.0000 condition_record_support_limited 20 0 11 Pontocerebellar_hypoplasia_type_2A 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIM8 mondo_mondo_0100111_medgen_c5561938_omim_619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome MONDO:MONDO:0100111,MedGen:C5561938,OMIM:619428 15 15 1.0000 condition_record_support_limited 20 0 6 Focal_segmental_glomerulosclerosis_and_neurodevelopmental_syndrome 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPRN mondo_mondo_0013215_medgen_c2750082_omim_613307_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 79 MONDO:MONDO:0013215,MedGen:C2750082,OMIM:613307,Orphanet:90636 15 15 1.0000 condition_record_support_limited 20 0 4 Autosomal_recessive_nonsyndromic_hearing_loss_79 33 compact_adjacent_exon_block_opportunity local_compact_architecture TPM1 mondo_mondo_0012744_medgen_c2678476_omim_611878_orphanet_154_orphanet_54260 Dilated cardiomyopathy 1Y MONDO:MONDO:0012744,MedGen:C2678476,OMIM:611878,Orphanet:154,Orphanet:54260 15 15 1.0000 condition_record_support_limited 20 0 10 Dilated_cardiomyopathy_1Y 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP53 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 15 15 1.0000 condition_record_support_limited 20 0 13 Gastric_cancer 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 Carcinoma of pancreas MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 15 15 1.0000 condition_record_support_limited 20 0 15 Carcinoma_of_pancreas 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TOPORS condition_not_provided condition not provided MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 7 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMC1 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 15 15 1.0000 condition_record_support_limited 20 0 10 Hearing_loss,_autosomal_recessive 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFE3 mondo_mondo_0859080_medgen_c5561930_omim_301066 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies MONDO:MONDO:0859080,MedGen:C5561930,OMIM:301066 15 15 1.0000 condition_record_support_limited 20 0 3 Intellectual_developmental_disorder,_X-linked,_syndromic,_with_pigmentary_mosaicism_and_coarse_facies 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TF human_phenotype_ontology_hp_0012239_mondo_mondo_0008846_medgen_c0521802_omim_209300_orphanet_1195 Atransferrinemia Human_Phenotype_Ontology:HP:0012239,MONDO:MONDO:0008846,MedGen:C0521802,OMIM:209300,Orphanet:1195 15 15 1.0000 condition_record_support_limited 20 0 0 Atransferrinemia 18 low_record_burden_interpretation_limited low_record_burden_gene TERT human_phenotype_ontology_hp_0002206_human_phenotype_ontology_hp_0006523_mondo_mondo_0002771_medgen_c0034069 Pulmonary fibrosis Human_Phenotype_Ontology:HP:0002206,Human_Phenotype_Ontology:HP:0006523,MONDO:MONDO:0002771,MedGen:C0034069 15 15 1.0000 condition_record_support_limited 20 0 15 Pulmonary_fibrosis 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF20 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 15 15 1.0000 condition_record_support_limited 20 0 13 Neurodevelopmental_abnormality 139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TBR1 human_phenotype_ontology_hp_0000729_medgen_c0856975 Autistic behavior Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 15 15 1.0000 condition_record_support_limited 20 0 15 Autistic_behavior 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBCE mondo_mondo_0014968_medgen_c4310667_omim_617207 Encephalopathy, progressive, with amyotrophy and optic atrophy MONDO:MONDO:0014968,MedGen:C4310667,OMIM:617207 15 15 1.0000 condition_record_support_limited 20 0 13 Encephalopathy,_progressive,_with_amyotrophy_and_optic_atrophy 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D24 mondo_mondo_0013826_medgen_c2829265_omim_614617_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 86 MONDO:MONDO:0013826,MedGen:C2829265,OMIM:614617,Orphanet:90636 15 15 1.0000 condition_record_support_limited 20 0 8 Autosomal_recessive_nonsyndromic_hearing_loss_86 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TARS2 mondo_mondo_0014398_medgen_c4706316_omim_615918_orphanet_420733 Combined oxidative phosphorylation defect type 21 MONDO:MONDO:0014398,MedGen:C4706316,OMIM:615918,Orphanet:420733 15 15 1.0000 condition_record_support_limited 20 0 4 Combined_oxidative_phosphorylation_defect_type_21 17 low_record_burden_interpretation_limited low_record_burden_gene TAF4 mondo_mondo_0957536_medgen_c5830636_omim_620450 Intellectual developmental disorder, autosomal dominant 73 MONDO:MONDO:0957536,MedGen:C5830636,OMIM:620450 15 15 1.0000 condition_record_support_limited 20 0 1 Intellectual_developmental_disorder,_autosomal_dominant_73 19 low_record_burden_interpretation_limited low_record_burden_gene SYNGAP1 mondo_mondo_0100038_medgen_c5568766_orphanet_528084 Complex neurodevelopmental disorder MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 15 15 1.0000 condition_record_support_limited 20 0 12 Complex_neurodevelopmental_disorder 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNE1 syne1_related_disorder SYNE1-related disorder . 15 15 1.0000 condition_record_support_limited 20 0 8 SYNE1-related_disorder 379 large_gene_or_donor_burden_stress_case donor_burden_stress SYCE2 mondo_mondo_0009281_medgen_c0268595_omim_231670_orphanet_25 Glutaric aciduria, type 1 MONDO:MONDO:0009281,MedGen:C0268595,OMIM:231670,Orphanet:25 15 15 1.0000 condition_record_support_limited 20 0 3 Glutaric_aciduria,_type_1 15 low_record_burden_interpretation_limited low_record_burden_gene STAMBP mondo_mondo_0013659_medgen_c3280296_omim_614261_orphanet_294016 Microcephaly-capillary malformation syndrome MONDO:MONDO:0013659,MedGen:C3280296,OMIM:614261,Orphanet:294016 15 15 1.0000 condition_record_support_limited 20 0 5 Microcephaly-capillary_malformation_syndrome 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAG2 condition_not_provided condition not provided MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 3 not_provided 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPTA1 human_phenotype_ontology_hp_0004805_human_phenotype_ontology_hp_0004839_mondo_mondo_0009948_medgen_c0520739_omim_266140 Pyropoikilocytosis, hereditary Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140 15 15 1.0000 condition_record_support_limited 20 0 12 Pyropoikilocytosis,_hereditary 210 large_gene_or_donor_burden_stress_case donor_burden_stress SPG11 spg11_related_disorder SPG11-related disorder . 15 15 1.0000 condition_record_support_limited 20 0 11 SPG11-related_disorder 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPEG mondo_mondo_0014418_medgen_c4014814_omim_615959_orphanet_169186 Myopathy, centronuclear, 5 MONDO:MONDO:0014418,MedGen:C4014814,OMIM:615959,Orphanet:169186 15 15 1.0000 condition_record_support_limited 20 0 4 Myopathy,_centronuclear,_5 51 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SOS1 mondo_mondo_0020297_medgen_c5681679_orphanet_98733 Noonan syndrome and Noonan-related syndrome MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 15 15 1.0000 condition_record_support_limited 20 0 15 Noonan_syndrome_and_Noonan-related_syndrome 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMN1 human_phenotype_ontology_hp_0007269_mondo_mondo_0001516_mesh_d009134_medgen_c0026847_omim_ps253300 Spinal muscular atrophy Human_Phenotype_Ontology:HP:0007269,MONDO:MONDO:0001516,MeSH:D009134,MedGen:C0026847,OMIM:PS253300 15 15 1.0000 condition_record_support_limited 20 0 7 Spinal_muscular_atrophy 79 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation SMARCA2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 15 15 1.0000 condition_record_support_limited 20 0 12 Intellectual_disability 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC9A3 condition_not_provided condition not provided MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 2 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 15 15 1.0000 condition_record_support_limited 20 0 8 Inborn_genetic_diseases 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC5A7 mondo_mondo_0014939_medgen_c4310694_omim_617143 Congenital myasthenic syndrome 20 MONDO:MONDO:0014939,MedGen:C4310694,OMIM:617143 15 15 1.0000 condition_record_support_limited 20 0 9 Congenital_myasthenic_syndrome_20 19 low_record_burden_interpretation_limited low_record_burden_gene SLC52A2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 15 15 1.0000 condition_record_support_limited 20 15 10 not_provided 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC3A1 condition_not_provided condition not provided .|MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 10 See_cases|not_provided 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A1 slc2a1_related_disorder SLC2A1-related disorder . 15 15 1.0000 condition_record_support_limited 20 0 7 SLC2A1-related_disorder 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A2 sulfate_transporter_related_osteochondrodysplasia Sulfate transporter-related osteochondrodysplasia MedGen:CN120497 15 15 1.0000 condition_record_support_limited 20 0 14 Sulfate_transporter-related_osteochondrodysplasia 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A38 condition_not_provided condition not provided MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 7 not_provided 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A22 mondo_mondo_0800491_medgen_c0393706_orphanet_1934 Early-infantile DEE MONDO:MONDO:0800491,MedGen:C0393706,Orphanet:1934 15 15 1.0000 condition_record_support_limited 20 0 5 Early-infantile_DEE 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEMA6B condition_not_provided condition not provided MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 5 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHAF2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 15 15 1.0000 condition_record_support_limited 20 15 11 not_provided|not_specified 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SAMD9 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 15 15 1.0000 condition_record_support_limited 20 15 7 See_cases|not_provided 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RP1L1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 15 15 1.0000 condition_record_support_limited 20 0 4 Retinal_dystrophy 46 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RORB mondo_mondo_0032699_medgen_c5193050_omim_618357 Epilepsy, idiopathic generalized, susceptibility to, 15 MONDO:MONDO:0032699,MedGen:C5193050,OMIM:618357 15 15 1.0000 condition_record_support_limited 20 0 5 Epilepsy,_idiopathic_generalized,_susceptibility_to,_15 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNU4ATAC mondo_mondo_0100558_medgen_cn377746 RNU4ATAC spectrum disorder MONDO:MONDO:0100558,MedGen:CN377746 15 15 1.0000 condition_record_support_limited 20 0 14 RNU4ATAC_spectrum_disorder 28 single_exon_hotspot_opportunity local_compact_architecture RNU4ATAC mondo_mondo_0008871_medgen_c1859452_omim_210710_orphanet_2636 Osteodysplastic primordial dwarfism, type 1 MONDO:MONDO:0008871,MedGen:C1859452,OMIM:210710,Orphanet:2636 15 15 1.0000 condition_record_support_limited 20 0 13 Osteodysplastic_primordial_dwarfism,_type_1 28 single_exon_hotspot_opportunity local_compact_architecture RLBP1 mondo_mondo_0011838_medgen_c1843816_omim_607475_orphanet_85128 Bothnia retinal dystrophy MONDO:MONDO:0011838,MedGen:C1843816,OMIM:607475,Orphanet:85128 15 15 1.0000 condition_record_support_limited 20 0 11 Bothnia_retinal_dystrophy 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIT1 mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 15 15 1.0000 condition_record_support_limited 20 0 15 RASopathy 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RFT1 mondo_mondo_0012783_medgen_c2677590_omim_612015_orphanet_244310 RFT1-congenital disorder of glycosylation MONDO:MONDO:0012783,MedGen:C2677590,OMIM:612015,Orphanet:244310 15 15 1.0000 condition_record_support_limited 20 0 2 RFT1-congenital_disorder_of_glycosylation 17 low_record_burden_interpretation_limited low_record_burden_gene RET human_phenotype_ontology_hp_0002029_human_phenotype_ontology_hp_0002030_human_phenotype_ontology_hp_0002251_human_phenotype_ontology_hp_0002606_human_phenotype_ontology_hp_0004391_mondo_mondo_0018309_mesh_d006627_medgen_c0019569_omim_ps142623_orphanet_388 Aganglionic megacolon Human_Phenotype_Ontology:HP:0002029,Human_Phenotype_Ontology:HP:0002030,Human_Phenotype_Ontology:HP:0002251,Human_Phenotype_Ontology:HP:0002606,Human_Phenotype_Ontology:HP:0004391,MONDO:MONDO:0018309,MeSH:D006627,MedGen:C0019569,OMIM:PS142623,Orphanet:388 15 15 1.0000 condition_record_support_limited 20 0 7 Aganglionic_megacolon 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RDX mondo_mondo_0012602_medgen_c1970239_omim_611022_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 24 MONDO:MONDO:0012602,MedGen:C1970239,OMIM:611022,Orphanet:90636 15 15 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_nonsyndromic_hearing_loss_24 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RARS2 mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 Pontoneocerebellar hypoplasia MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 15 15 1.0000 condition_record_support_limited 20 0 14 Pontoneocerebellar_hypoplasia 242 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAI1 rai1_related_disorder RAI1-related disorder . 15 15 1.0000 condition_record_support_limited 20 0 2 RAI1-related_disorder 161 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PYCR1 mondo_mondo_0013755_medgen_c3280799_omim_614438_orphanet_293633_orphanet_2962 PYCR1-related de Barsy syndrome MONDO:MONDO:0013755,MedGen:C3280799,OMIM:614438,Orphanet:293633,Orphanet:2962 15 15 1.0000 condition_record_support_limited 20 0 15 PYCR1-related_de_Barsy_syndrome 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSMD12 mondo_mondo_0054591_medgen_c4479599_omim_617516 Stankiewicz-Isidor syndrome MONDO:MONDO:0054591,MedGen:C4479599,OMIM:617516 15 15 1.0000 condition_record_support_limited 20 0 2 Stankiewicz-Isidor_syndrome 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSAP mondo_mondo_0012720_medgen_c2673266_omim_611722_orphanet_487 Krabbe disease due to saposin A deficiency MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722,Orphanet:487 15 15 1.0000 condition_record_support_limited 20 0 14 Krabbe_disease_due_to_saposin_A_deficiency 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRNP mondo_mondo_0007656_medgen_c0017495_omim_137440_orphanet_356 Gerstmann-Straussler-Scheinker syndrome MONDO:MONDO:0007656,MedGen:C0017495,OMIM:137440,Orphanet:356 15 15 1.0000 condition_record_support_limited 20 0 10 Gerstmann-Straussler-Scheinker_syndrome 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKN mondo_mondo_0008903_medgen_c0242379_omim_211980 Lung cancer MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 15 15 1.0000 condition_record_support_limited 20 0 15 Lung_cancer 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAG2 mondo_mondo_0009867_medgen_c1849813_omim_261740_orphanet_439854 Lethal congenital glycogen storage disease of heart MONDO:MONDO:0009867,MedGen:C1849813,OMIM:261740,Orphanet:439854 15 15 1.0000 condition_record_support_limited 20 0 5 Lethal_congenital_glycogen_storage_disease_of_heart 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PQBP1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 15 15 1.0000 condition_record_support_limited 20 15 6 not_provided 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POU3F4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 15 15 1.0000 condition_record_support_limited 20 15 3 not_provided 107 single_exon_hotspot_opportunity local_compact_architecture POU3F3 condition_not_provided condition not provided MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 6 not_provided 52 single_exon_hotspot_opportunity local_compact_architecture PNPLA8 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 15 15 1.0000 condition_record_support_limited 20 15 5 not_provided|not_specified 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMS2 mondo_mondo_0007356_medgen_c2936783_omim_120435_orphanet_144 Lynch syndrome 1 MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144 15 15 1.0000 condition_record_support_limited 20 0 14 Lynch_syndrome_1 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMS2 human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Endometrial carcinoma Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 15 15 1.0000 condition_record_support_limited 20 0 6 Endometrial_carcinoma 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PIGA condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 15 15 1.0000 condition_record_support_limited 20 15 8 not_provided 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX7 condition_not_provided condition not provided MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 14 not_provided 142 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDGFRB mondo_mondo_0016824_medgen_c0432284_omim_ps228550_orphanet_2591 Infantile myofibromatosis MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550,Orphanet:2591 15 15 1.0000 condition_record_support_limited 20 0 6 Infantile_myofibromatosis 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX1 condition_not_provided condition not provided MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 1 not_provided 23 compact_adjacent_exon_block_opportunity local_compact_architecture PARN condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 15 15 1.0000 condition_record_support_limited 20 15 7 not_provided 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture P3H1 condition_not_provided condition not provided MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 12 not_provided 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTX2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 15 15 1.0000 condition_record_support_limited 20 15 6 not_provided 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTUD6B mondo_mondo_0044319_medgen_c4479520_omim_617452_orphanet_505237 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies MONDO:MONDO:0044319,MedGen:C4479520,OMIM:617452,Orphanet:505237 15 15 1.0000 condition_record_support_limited 20 0 7 Intellectual_developmental_disorder_with_dysmorphic_facies,_seizures,_and_distal_limb_anomalies 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTOGL medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 15 15 1.0000 condition_record_support_limited 20 0 6 Rare_genetic_deafness 99 large_gene_or_donor_burden_stress_case donor_burden_stress OBSCN mondo_mondo_0859371_medgen_c5774307_omim_620235 Rhabdomyolysis, susceptibility to, 1 MONDO:MONDO:0859371,MedGen:C5774307,OMIM:620235 15 15 1.0000 condition_record_support_limited 20 0 1 Rhabdomyolysis,_susceptibility_to,_1 55 large_gene_or_donor_burden_stress_case donor_burden_stress NYX human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 15 15 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NTRK1 condition_not_provided condition not provided MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 11 not_provided 199 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP1 condition_not_provided condition not provided MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 8 not_provided 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NOTCH1 notch1_related_disorder NOTCH1-related disorder . 15 15 1.0000 condition_record_support_limited 20 0 4 NOTCH1-related_disorder 163 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NEMF condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 15 15 1.0000 condition_record_support_limited 20 15 4 See_cases|not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEMF mondo_mondo_0030849_medgen_c5436813_omim_619099 Intellectual developmental disorder with speech delay and axonal peripheral neuropathy MONDO:MONDO:0030849,MedGen:C5436813,OMIM:619099 15 15 1.0000 condition_record_support_limited 20 0 4 Intellectual_developmental_disorder_with_speech_delay_and_axonal_peripheral_neuropathy 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEK1 nek1_related_disorder NEK1-related disorder . 15 15 1.0000 condition_record_support_limited 20 0 7 NEK1-related_disorder 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFAF6 mondo_mondo_0032622_medgen_c4748786_omim_618239 Mitochondrial complex I deficiency, nuclear type 17 MONDO:MONDO:0032622,MedGen:C4748786,OMIM:618239 15 15 1.0000 condition_record_support_limited 20 0 5 Mitochondrial_complex_I_deficiency,_nuclear_type_17 34 compact_adjacent_exon_block_opportunity local_compact_architecture NAXD mondo_mondo_0034121_medgen_c5193026_omim_618321_orphanet_555402 NAD(P)HX dehydratase deficiency MONDO:MONDO:0034121,MedGen:C5193026,OMIM:618321,Orphanet:555402 15 15 1.0000 condition_record_support_limited 20 0 1 NAD(P)HX_dehydratase_deficiency 17 low_record_burden_interpretation_limited low_record_burden_gene MYORG condition_not_provided condition not provided MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 2 not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO6 mondo_mondo_0011912_medgen_c1843028_omim_607821_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 37 MONDO:MONDO:0011912,MedGen:C1843028,OMIM:607821,Orphanet:90636 15 15 1.0000 condition_record_support_limited 20 0 7 Autosomal_recessive_nonsyndromic_hearing_loss_37 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYL4 mondo_mondo_0015001_medgen_c4310636_omim_617280 Atrial fibrillation, familial, 18 MONDO:MONDO:0015001,MedGen:C4310636,OMIM:617280 15 15 1.0000 condition_record_support_limited 20 0 1 Atrial_fibrillation,_familial,_18 15 low_record_burden_interpretation_limited low_record_burden_gene MYH7 mondo_mondo_0005217_medgen_c0264789 Familial cardiomyopathy MONDO:MONDO:0005217,MedGen:C0264789 15 15 1.0000 condition_record_support_limited 20 0 4 Familial_cardiomyopathy 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH3 mondo_mondo_0008338_medgen_c1867440_omim_178110_orphanet_65743 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A MONDO:MONDO:0008338,MedGen:C1867440,OMIM:178110,Orphanet:65743 15 15 1.0000 condition_record_support_limited 20 0 11 Contractures,_pterygia,_and_spondylocarpotarsal_fusion_syndrome_1A 124 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MTM1 mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 Centronuclear myopathy MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 15 15 1.0000 condition_record_support_limited 20 0 13 Centronuclear_myopathy 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTFMT mondo_mondo_0013987_medgen_c4706313_omim_614947_orphanet_319524 Combined oxidative phosphorylation defect type 15 MONDO:MONDO:0013987,MedGen:C4706313,OMIM:614947,Orphanet:319524 15 15 1.0000 condition_record_support_limited 20 0 7 Combined_oxidative_phosphorylation_defect_type_15 32 compact_adjacent_exon_block_opportunity local_compact_architecture MPZ mondo_mondo_0007790_medgen_c0011195_omim_145900_orphanet_64748 Dejerine-Sottas disease MONDO:MONDO:0007790,MedGen:C0011195,OMIM:145900,Orphanet:64748 15 15 1.0000 condition_record_support_limited 20 0 13 Dejerine-Sottas_disease 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MORC2 mondo_mondo_0030835_medgen_c5436781_omim_619090 Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy MONDO:MONDO:0030835,MedGen:C5436781,OMIM:619090 15 15 1.0000 condition_record_support_limited 20 0 9 Developmental_delay,_impaired_growth,_dysmorphic_facies,_and_axonal_neuropathy 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMAA human_phenotype_ontology_hp_0002912_human_phenotype_ontology_hp_0003123_human_phenotype_ontology_hp_0008295_mondo_mondo_0002012_mesh_c537358_medgen_c0268583_omim_ps251000 Methylmalonic acidemia Human_Phenotype_Ontology:HP:0002912,Human_Phenotype_Ontology:HP:0003123,Human_Phenotype_Ontology:HP:0008295,MONDO:MONDO:0002012,MeSH:C537358,MedGen:C0268583,OMIM:PS251000 15 15 1.0000 condition_record_support_limited 20 0 15 Methylmalonic_acidemia 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MIP mondo_mondo_0014110_medgen_c3809001_omim_615274_orphanet_91492 Cataract 15 multiple types MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274,Orphanet:91492 15 15 1.0000 condition_record_support_limited 20 0 3 Cataract_15_multiple_types 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 15 15 1.0000 condition_record_support_limited 20 0 14 Inborn_genetic_diseases 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 mondo_mondo_0014906_medgen_c4310725_omim_617087 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b MONDO:MONDO:0014906,MedGen:C4310725,OMIM:617087 15 15 1.0000 condition_record_support_limited 20 0 10 Charcot-Marie-Tooth_disease,_axonal,_autosomal_recessive,_type_2a2b%3B 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED12 mondo_mondo_0012997_mesh_c535632_medgen_c0795969_omim_301068_orphanet_1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome MONDO:MONDO:0012997,MeSH:C535632,MedGen:C0795969,OMIM:301068,Orphanet:1415 15 15 1.0000 condition_record_support_limited 20 0 7 Cholestasis-pigmentary_retinopathy-cleft_palate_syndrome 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MCCC1 mondo_mondo_0018950_medgen_c4551505_omim_ps210200_orphanet_6 Methylcrotonyl-CoA carboxylase deficiency MONDO:MONDO:0018950,MedGen:C4551505,OMIM:PS210200,Orphanet:6 15 15 1.0000 condition_record_support_limited 20 0 15 Methylcrotonyl-CoA_carboxylase_deficiency 203 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MASP1 mondo_mondo_0009770_medgen_c0796059_omim_257920_orphanet_293843 3MC syndrome 1 MONDO:MONDO:0009770,MedGen:C0796059,OMIM:257920,Orphanet:293843 15 15 1.0000 condition_record_support_limited 20 0 0 3MC_syndrome_1 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MARVELD2 condition_not_provided condition not provided MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 4 not_provided 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MANBA condition_not_provided condition not provided MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 13 not_provided 109 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LZTR1 mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 15 15 1.0000 condition_record_support_limited 20 0 15 RASopathy 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMNA mondo_mondo_0012417_medgen_c1857829_omim_610140_orphanet_168796 Heart-hand syndrome, Slovenian type MONDO:MONDO:0012417,MedGen:C1857829,OMIM:610140,Orphanet:168796 15 15 1.0000 condition_record_support_limited 20 0 15 Heart-hand_syndrome,_Slovenian_type 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA mondo_mondo_0008915_medgen_c0796031_omim_212112_orphanet_2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome MONDO:MONDO:0008915,MedGen:C0796031,OMIM:212112,Orphanet:2229 15 15 1.0000 condition_record_support_limited 20 0 15 Dilated_cardiomyopathy-hypergonadotropic_hypogonadism_syndrome 536 compact_adjacent_exon_block_opportunity local_compact_architecture LHFPL5 mondo_mondo_0012460_medgen_c1853223_omim_610265_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 67 MONDO:MONDO:0012460,MedGen:C1853223,OMIM:610265,Orphanet:90636 15 15 1.0000 condition_record_support_limited 20 0 5 Autosomal_recessive_nonsyndromic_hearing_loss_67 23 compact_adjacent_exon_block_opportunity local_compact_architecture LEPR condition_not_provided condition not provided MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 7 not_provided 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LEMD3 mondo_mondo_0008157_medgen_c0265514_omim_166700_orphanet_1306 Dermatofibrosis lenticularis disseminata MONDO:MONDO:0008157,MedGen:C0265514,OMIM:166700,Orphanet:1306 15 15 1.0000 condition_record_support_limited 20 0 4 Dermatofibrosis_lenticularis_disseminata 70 compact_adjacent_exon_block_opportunity local_compact_architecture LAMP2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 15 15 1.0000 condition_record_support_limited 20 0 10 Cardiovascular_phenotype 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMC2 mondo_mondo_0017612_medgen_c0079301_omim_ps226650_orphanet_305 Junctional epidermolysis bullosa MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305 15 15 1.0000 condition_record_support_limited 20 0 9 Junctional_epidermolysis_bullosa 223 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMB1 mondo_mondo_0014077_medgen_c3554657_omim_615191_orphanet_352682 Cobblestone lissencephaly without muscular or ocular involvement MONDO:MONDO:0014077,MedGen:C3554657,OMIM:615191,Orphanet:352682 15 15 1.0000 condition_record_support_limited 20 0 2 Cobblestone_lissencephaly_without_muscular_or_ocular_involvement 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KRT16 mondo_mondo_0008173_medgen_c1706595_omim_167200_orphanet_2309 Pachyonychia congenita 1 MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200,Orphanet:2309 15 15 1.0000 condition_record_support_limited 20 0 13 Pachyonychia_congenita_1 22 compact_adjacent_exon_block_opportunity local_compact_architecture KIFBP mondo_mondo_0012280_medgen_c1836123_omim_609460_orphanet_66629 Goldberg-Shprintzen syndrome MONDO:MONDO:0012280,MedGen:C1836123,OMIM:609460,Orphanet:66629 15 15 1.0000 condition_record_support_limited 20 0 3 Goldberg-Shprintzen_syndrome 16 low_record_burden_interpretation_limited low_record_burden_gene KIF1A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 15 15 1.0000 condition_record_support_limited 20 0 11 Inborn_genetic_diseases 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIF14 mondo_mondo_0014552_medgen_c4015701_omim_616258_orphanet_439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome MONDO:MONDO:0014552,MedGen:C4015701,OMIM:616258,Orphanet:439897 15 15 1.0000 condition_record_support_limited 20 0 10 Lethal_fetal_cerebrorenogenitourinary_agenesis/hypoplasia_syndrome 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM3B condition_not_provided condition not provided .|MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 3 See_cases|not_provided 41 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KDM2A kdm2a_related_neurodevelopmental_disorder KDM2A-related neurodevelopmental disorder . 15 15 1.0000 condition_record_support_limited 20 0 2 KDM2A-related_neurodevelopmental_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene KCNMA1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 15 15 1.0000 condition_record_support_limited 20 15 8 not_provided 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNA1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 15 15 1.0000 condition_record_support_limited 20 15 12 not_provided 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KAT6B kat6b_related_disorder KAT6B-related disorder . 15 15 1.0000 condition_record_support_limited 20 0 6 KAT6B-related_disorder 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture JMJD8 mondo_mondo_0032526_medgen_c4748158_omim_618093_orphanet_631103 Spinocerebellar ataxia 48 MONDO:MONDO:0032526,MedGen:C4748158,OMIM:618093,Orphanet:631103 15 15 1.0000 condition_record_support_limited 20 0 8 Spinocerebellar_ataxia_48 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JAG1 mondo_mondo_0060713_medgen_c1866053_omim_617992 Deafness, congenital heart defects, and posterior embryotoxon MONDO:MONDO:0060713,MedGen:C1866053,OMIM:617992 15 15 1.0000 condition_record_support_limited 20 0 14 Deafness,_congenital_heart_defects,_and_posterior_embryotoxon 461 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA6 mondo_mondo_0859233_medgen_c5676957_omim_619817 Epidermolysis bullosa, junctional 6, with pyloric atresia MONDO:MONDO:0859233,MedGen:C5676957,OMIM:619817 15 15 1.0000 condition_record_support_limited 20 0 5 Epidermolysis_bullosa,_junctional_6,_with_pyloric_atresia 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IQSEC2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 15 15 1.0000 condition_record_support_limited 20 0 7 Inborn_genetic_diseases 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 mondo_mondo_0015362_medgen_c5548212_omim_ps182960_orphanet_140465 Neuronopathy, distal hereditary motor, autosomal dominant MONDO:MONDO:0015362,MedGen:C5548212,OMIM:PS182960,Orphanet:140465 15 15 1.0000 condition_record_support_limited 20 0 15 Neuronopathy,_distal_hereditary_motor,_autosomal_dominant 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IARS1 mondo_mondo_0014911_medgen_c4310720_omim_617093_orphanet_541423 Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy MONDO:MONDO:0014911,MedGen:C4310720,OMIM:617093,Orphanet:541423 15 15 1.0000 condition_record_support_limited 20 0 3 Growth_retardation,_intellectual_developmental_disorder,_hypotonia,_and_hepatopathy 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSPB1 mondo_mondo_0012080_medgen_c2608087_omim_608634_orphanet_139525 Neuronopathy, distal hereditary motor, type 2B MONDO:MONDO:0012080,MedGen:C2608087,OMIM:608634,Orphanet:139525 15 15 1.0000 condition_record_support_limited 20 0 14 Neuronopathy,_distal_hereditary_motor,_type_2B 39 compact_adjacent_exon_block_opportunity local_compact_architecture HSPB1 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 15 15 1.0000 condition_record_support_limited 20 0 14 Charcot-Marie-Tooth_disease 39 compact_adjacent_exon_block_opportunity local_compact_architecture HSD3B2 human_phenotype_ontology_hp_0008258_mondo_mondo_0018479_medgen_c0001627_orphanet_418 Congenital adrenal hyperplasia Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418 15 15 1.0000 condition_record_support_limited 20 0 11 Congenital_adrenal_hyperplasia 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HOXD13 mondo_mondo_0008513_medgen_c5574994_omim_186000_orphanet_295195 Synpolydactyly type 1 MONDO:MONDO:0008513,MedGen:C5574994,OMIM:186000,Orphanet:295195 15 15 1.0000 condition_record_support_limited 20 0 4 Synpolydactyly_type_1 32 compact_adjacent_exon_block_opportunity local_compact_architecture HCN1 mondo_mondo_0014377_medgen_c4014531_omim_615871_orphanet_442835 Developmental and epileptic encephalopathy, 24 MONDO:MONDO:0014377,MedGen:C4014531,OMIM:615871,Orphanet:442835 15 15 1.0000 condition_record_support_limited 20 0 9 Developmental_and_epileptic_encephalopathy,_24 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HARS2 condition_not_provided condition not provided MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 3 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GTPBP3 mondo_mondo_0014525_medgen_c5567743_omim_616198_orphanet_444013 Combined oxidative phosphorylation defect type 23 MONDO:MONDO:0014525,MedGen:C5567743,OMIM:616198,Orphanet:444013 15 15 1.0000 condition_record_support_limited 20 0 3 Combined_oxidative_phosphorylation_defect_type_23 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GREB1L mondo_mondo_0030998_medgen_c5543289_omim_619274 Hearing loss, autosomal dominant 80 MONDO:MONDO:0030998,MedGen:C5543289,OMIM:619274 15 15 1.0000 condition_record_support_limited 20 0 4 Hearing_loss,_autosomal_dominant_80 86 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture GPT2 mondo_mondo_0014567_medgen_c4225388_omim_616281_orphanet_477673 Glutamate pyruvate transaminase 2 deficiency MONDO:MONDO:0014567,MedGen:C4225388,OMIM:616281,Orphanet:477673 15 15 1.0000 condition_record_support_limited 20 0 3 Glutamate_pyruvate_transaminase_2_deficiency 18 low_record_burden_interpretation_limited low_record_burden_gene GPR179 mondo_mondo_0013807_medgen_c3281215_omim_614565_orphanet_215 Congenital stationary night blindness 1E MONDO:MONDO:0013807,MedGen:C3281215,OMIM:614565,Orphanet:215 15 15 1.0000 condition_record_support_limited 20 0 6 Congenital_stationary_night_blindness_1E 45 compact_adjacent_exon_block_opportunity local_compact_architecture GPR143 mondo_mondo_0010435_medgen_c3151752_omim_300814 Nystagmus 6, congenital, X-linked MONDO:MONDO:0010435,MedGen:C3151752,OMIM:300814 15 15 1.0000 condition_record_support_limited 20 0 13 Nystagmus_6,_congenital,_X-linked 112 compact_adjacent_exon_block_opportunity local_compact_architecture GPAA1 mondo_mondo_0060627_medgen_c4540520_omim_617810_orphanet_529665 Glycosylphosphatidylinositol biosynthesis defect 15 MONDO:MONDO:0060627,MedGen:C4540520,OMIM:617810,Orphanet:529665 15 15 1.0000 condition_record_support_limited 20 0 8 Glycosylphosphatidylinositol_biosynthesis_defect_15 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 mondo_mondo_0012977_medgen_c2675235_omim_612645_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 1B MONDO:MONDO:0012977,MedGen:C2675235,OMIM:612645,Orphanet:90636 15 15 1.0000 condition_record_support_limited 20 0 15 Autosomal_recessive_nonsyndromic_hearing_loss_1B 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GANAB condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 15 15 1.0000 condition_record_support_limited 20 15 9 not_provided 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAD1 mondo_mondo_0030856_medgen_c5436853_omim_619124 Developmental and epileptic encephalopathy 89 MONDO:MONDO:0030856,MedGen:C5436853,OMIM:619124 15 15 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy_89 18 low_record_burden_interpretation_limited low_record_burden_gene FRYL condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 15 15 1.0000 condition_record_support_limited 20 15 1 not_provided|not_specified 23 large_gene_or_donor_burden_stress_case donor_burden_stress FOXRED1 mondo_mondo_0032624_medgen_c4748791_omim_618241 Mitochondrial complex I deficiency, nuclear type 19 MONDO:MONDO:0032624,MedGen:C4748791,OMIM:618241 15 15 1.0000 condition_record_support_limited 20 0 8 Mitochondrial_complex_I_deficiency,_nuclear_type_19 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLNC human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 15 15 1.0000 condition_record_support_limited 20 0 7 Cardiomyopathy 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FGG condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 15 15 1.0000 condition_record_support_limited 20 15 5 not_provided 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 15 15 1.0000 condition_record_support_limited 20 0 13 Malignant_tumor_of_urinary_bladder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FDXR mondo_mondo_0060582_medgen_c4521678_omim_617717_orphanet_542585 Auditory neuropathy-optic atrophy syndrome MONDO:MONDO:0060582,MedGen:C4521678,OMIM:617717,Orphanet:542585 15 15 1.0000 condition_record_support_limited 20 0 6 Auditory_neuropathy-optic_atrophy_syndrome 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F5 mondo_mondo_0008560_medgen_c1861171_omim_188055 Thrombophilia due to activated protein C resistance MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055 15 15 1.0000 condition_record_support_limited 20 0 11 Thrombophilia_due_to_activated_protein_C_resistance 109 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture F13A1 condition_not_provided condition not provided MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 8 not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ESPN mondo_mondo_0012170_medgen_c1837007_omim_609006_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 36 MONDO:MONDO:0012170,MedGen:C1837007,OMIM:609006,Orphanet:90636 15 15 1.0000 condition_record_support_limited 20 0 3 Autosomal_recessive_nonsyndromic_hearing_loss_36 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPHB4 mondo_mondo_0015009_medgen_c4310629_omim_617300 Lymphatic malformation 7 MONDO:MONDO:0015009,MedGen:C4310629,OMIM:617300 15 15 1.0000 condition_record_support_limited 20 0 10 Lymphatic_malformation_7 135 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPCAM condition_not_provided condition not provided MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 6 not_provided 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPB42 mondo_mondo_0012985_medgen_c2675192_omim_612690_orphanet_822 Hereditary spherocytosis type 5 MONDO:MONDO:0012985,MedGen:C2675192,OMIM:612690,Orphanet:822 15 15 1.0000 condition_record_support_limited 20 0 2 Hereditary_spherocytosis_type_5 19 low_record_burden_interpretation_limited low_record_burden_gene ENTPD1 mondo_mondo_0014303_medgen_c3810289_omim_615683_orphanet_401810 Hereditary spastic paraplegia 64 MONDO:MONDO:0014303,MedGen:C3810289,OMIM:615683,Orphanet:401810 15 15 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia_64 17 low_record_burden_interpretation_limited low_record_burden_gene EIF2B2 mondo_mondo_0957870_medgen_c5830404_omim_620312 Leukoencephalopathy with vanishing white matter 2 MONDO:MONDO:0957870,MedGen:C5830404,OMIM:620312 15 15 1.0000 condition_record_support_limited 20 0 13 Leukoencephalopathy_with_vanishing_white_matter_2 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC2LI1 mondo_mondo_0014907_medgen_c4310724_omim_617088 Short-rib thoracic dysplasia 15 with polydactyly MONDO:MONDO:0014907,MedGen:C4310724,OMIM:617088 15 15 1.0000 condition_record_support_limited 20 0 11 Short-rib_thoracic_dysplasia_15_with_polydactyly 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC1H1 dync1h1_related_disorder DYNC1H1-related disorder . 15 15 1.0000 condition_record_support_limited 20 0 7 DYNC1H1-related_disorder 176 large_gene_or_donor_burden_stress_case donor_burden_stress DSP mondo_mondo_0016342_medgen_c4274968_omim_ps107970_orphanet_217656 Familial isolated arrhythmogenic right ventricular dysplasia MONDO:MONDO:0016342,MedGen:C4274968,OMIM:PS107970,Orphanet:217656 15 15 1.0000 condition_record_support_limited 20 0 13 Familial_isolated_arrhythmogenic_right_ventricular_dysplasia 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSG1 mondo_mondo_0007859_medgen_c2931122_omim_148700_orphanet_369999_orphanet_370002 Palmoplantar keratoderma i, striate, focal, or diffuse MONDO:MONDO:0007859,MedGen:C2931122,OMIM:148700,Orphanet:369999,Orphanet:370002 15 15 1.0000 condition_record_support_limited 20 0 6 Palmoplantar_keratoderma_i,_striate,_focal,_or_diffuse 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOK7 mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 Congenital myasthenic syndrome MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 15 15 1.0000 condition_record_support_limited 20 0 14 Congenital_myasthenic_syndrome 144 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM2 mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 Centronuclear myopathy MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 15 15 1.0000 condition_record_support_limited 20 0 14 Centronuclear_myopathy 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJB11 mondo_mondo_0004691_medgen_c0085413_orphanet_730 Autosomal dominant polycystic kidney disease MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730 15 15 1.0000 condition_record_support_limited 20 0 10 Autosomal_dominant_polycystic_kidney_disease 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLG4 mondo_mondo_0008723_medgen_c3887523_omim_201475_orphanet_26793 Very long chain acyl-CoA dehydrogenase deficiency MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475,Orphanet:26793 15 15 1.0000 condition_record_support_limited 20 0 2 Very_long_chain_acyl-CoA_dehydrogenase_deficiency 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLAT mondo_mondo_0009502_medgen_c1855565_omim_245348_orphanet_765_orphanet_79244 Pyruvate dehydrogenase E2 deficiency MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348,Orphanet:765,Orphanet:79244 15 15 1.0000 condition_record_support_limited 20 0 2 Pyruvate_dehydrogenase_E2_deficiency 17 low_record_burden_interpretation_limited low_record_burden_gene DHFR human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Endometrial carcinoma Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 15 15 1.0000 condition_record_support_limited 20 0 12 Endometrial_carcinoma 43 compact_adjacent_exon_block_opportunity local_compact_architecture DGUOK mondo_mondo_0014899_medgen_c4310733_omim_617070_orphanet_329314 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 MONDO:MONDO:0014899,MedGen:C4310733,OMIM:617070,Orphanet:329314 15 15 1.0000 condition_record_support_limited 20 0 14 Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_4 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCX medgen_c1848070 Subcortical laminar heterotopia, X-linked MedGen:C1848070 15 15 1.0000 condition_record_support_limited 20 0 10 Subcortical_laminar_heterotopia,_X-linked 165 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCLRE1C condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 15 15 1.0000 condition_record_support_limited 20 15 11 not_provided|not_specified 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCC condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 15 15 1.0000 condition_record_support_limited 20 15 4 not_provided 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP2U1 condition_not_provided condition not provided .|MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 8 See_cases|not_provided 51 compact_adjacent_exon_block_opportunity local_compact_architecture CYB5R3 mondo_mondo_0009606_medgen_c0268193_omim_250800_orphanet_621 Deficiency of cytochrome-b5 reductase MONDO:MONDO:0009606,MedGen:C0268193,OMIM:250800,Orphanet:621 15 15 1.0000 condition_record_support_limited 20 0 11 Deficiency_of_cytochrome-b5_reductase 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRB2 mondo_mondo_0014539_medgen_c4015555_omim_616220_orphanet_656 Focal segmental glomerulosclerosis 9 MONDO:MONDO:0014539,MedGen:C4015555,OMIM:616220,Orphanet:656 15 15 1.0000 condition_record_support_limited 20 0 6 Focal_segmental_glomerulosclerosis_9 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPT1C mondo_mondo_0014568_medgen_c5568981_omim_616282_orphanet_444099 Hereditary spastic paraplegia 73 MONDO:MONDO:0014568,MedGen:C5568981,OMIM:616282,Orphanet:444099 15 15 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia_73 16 low_record_burden_interpretation_limited low_record_burden_gene COX15 mondo_mondo_0014051_medgen_c3554534_omim_615119_orphanet_1561 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 MONDO:MONDO:0014051,MedGen:C3554534,OMIM:615119,Orphanet:1561 15 15 1.0000 condition_record_support_limited 20 0 9 Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_2 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COLQ mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 Congenital myasthenic syndrome MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 15 15 1.0000 condition_record_support_limited 20 0 12 Congenital_myasthenic_syndrome 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL5A2 mondo_mondo_0019568_medgen_c0268336_omim_130010_orphanet_287_orphanet_90318 Ehlers-Danlos syndrome, classic type, 2 MONDO:MONDO:0019568,MedGen:C0268336,OMIM:130010,Orphanet:287,Orphanet:90318 15 15 1.0000 condition_record_support_limited 20 0 4 Ehlers-Danlos_syndrome,_classic_type,_2 62 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 15 15 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL3A1 familial_aortopathy Familial aortopathy MedGen:CN078214 15 15 1.0000 condition_record_support_limited 20 0 10 Familial_aortopathy 937 large_gene_or_donor_burden_stress_case donor_burden_stress COG6 condition_not_provided condition not provided .|MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 7 See_cases|not_provided 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLPP mondo_mondo_0013588_medgen_c3808414_omim_614129_orphanet_2855 Perrault syndrome 3 MONDO:MONDO:0013588,MedGen:C3808414,OMIM:614129,Orphanet:2855 15 15 1.0000 condition_record_support_limited 20 0 5 Perrault_syndrome_3 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLPB condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 15 15 1.0000 condition_record_support_limited 20 15 9 not_provided 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLASP1 mondo_mondo_0100558_medgen_cn377746 RNU4ATAC spectrum disorder MONDO:MONDO:0100558,MedGen:CN377746 15 15 1.0000 condition_record_support_limited 20 0 14 RNU4ATAC_spectrum_disorder 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLASP1 mondo_mondo_0008871_medgen_c1859452_omim_210710_orphanet_2636 Osteodysplastic primordial dwarfism, type 1 MONDO:MONDO:0008871,MedGen:C1859452,OMIM:210710,Orphanet:2636 15 15 1.0000 condition_record_support_limited 20 0 13 Osteodysplastic_primordial_dwarfism,_type_1 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CIB2 mondo_mondo_0012273_medgen_c1836199_omim_609439_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 48 MONDO:MONDO:0012273,MedGen:C1836199,OMIM:609439,Orphanet:90636 15 15 1.0000 condition_record_support_limited 20 0 5 Autosomal_recessive_nonsyndromic_hearing_loss_48 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFI mondo_mondo_0016244_medgen_c2931788_orphanet_2134 Atypical hemolytic-uremic syndrome MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134 15 15 1.0000 condition_record_support_limited 20 0 6 Atypical_hemolytic-uremic_syndrome 124 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP43 mondo_mondo_0054723_medgen_c4539818_omim_617592 Spermatogenic failure 19 MONDO:MONDO:0054723,MedGen:C4539818,OMIM:617592 15 15 1.0000 condition_record_support_limited 20 0 2 Spermatogenic_failure_19 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDK13 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 15 15 1.0000 condition_record_support_limited 20 0 8 Inborn_genetic_diseases 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH1 mondo_mondo_0054740_medgen_c4551988_omim_119580_orphanet_1997 Blepharocheilodontic syndrome 1 MONDO:MONDO:0054740,MedGen:C4551988,OMIM:119580,Orphanet:1997 15 15 1.0000 condition_record_support_limited 20 0 13 Blepharocheilodontic_syndrome_1 622 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CCNH cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 15 15 1.0000 condition_record_support_limited 20 0 7 Cardiovascular_phenotype 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCBE1 condition_not_provided condition not provided MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 4 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene CBLIF mondo_mondo_0009852_medgen_c2062370_omim_261000_orphanet_332 Hereditary intrinsic factor deficiency MONDO:MONDO:0009852,MedGen:C2062370,OMIM:261000,Orphanet:332 15 15 1.0000 condition_record_support_limited 20 0 3 Hereditary_intrinsic_factor_deficiency 15 low_record_burden_interpretation_limited low_record_burden_gene CBL mondo_mondo_0013308_medgen_c3150803_omim_613563_orphanet_363972 CBL-related disorder MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563,Orphanet:363972 15 15 1.0000 condition_record_support_limited 20 0 11 CBL-related_disorder 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAV3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 15 15 1.0000 condition_record_support_limited 20 15 12 not_provided 26 compact_adjacent_exon_block_opportunity local_compact_architecture CALM1 mondo_mondo_0014548_medgen_c4015671_omim_616247_orphanet_101016_orphanet_768 Long QT syndrome 14 MONDO:MONDO:0014548,MedGen:C4015671,OMIM:616247,Orphanet:101016,Orphanet:768 15 15 1.0000 condition_record_support_limited 20 0 11 Long_QT_syndrome_14 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNA2D2 mondo_mondo_0032788_medgen_c5193132_omim_618501 Cerebellar atrophy with seizures and variable developmental delay MONDO:MONDO:0032788,MedGen:C5193132,OMIM:618501 15 15 1.0000 condition_record_support_limited 20 0 2 Cerebellar_atrophy_with_seizures_and_variable_developmental_delay 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BSND mondo_mondo_0011242_medgen_c1865270_omim_602522_orphanet_112 Bartter disease type 4A MONDO:MONDO:0011242,MedGen:C1865270,OMIM:602522,Orphanet:112 15 15 1.0000 condition_record_support_limited 20 0 11 Bartter_disease_type_4A 39 compact_adjacent_exon_block_opportunity local_compact_architecture BSCL2 mondo_mondo_0030860_medgen_c5436838_omim_619112 Neuronopathy, distal hereditary motor, type 5C MONDO:MONDO:0030860,MedGen:C5436838,OMIM:619112 15 15 1.0000 condition_record_support_limited 20 0 15 Neuronopathy,_distal_hereditary_motor,_type_5C 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF mondo_mondo_0020297_medgen_c5681679_orphanet_98733 Noonan syndrome and Noonan-related syndrome MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 15 15 1.0000 condition_record_support_limited 20 0 15 Noonan_syndrome_and_Noonan-related_syndrome 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF human_phenotype_ontology_hp_0030358_mondo_mondo_0005233_mesh_d002289_medgen_c0007131 Non-small cell lung carcinoma Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131 15 15 1.0000 condition_record_support_limited 20 0 13 Non-small_cell_lung_carcinoma 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMP1 mondo_mondo_0013924_medgen_c3553887_omim_614856_orphanet_666 Osteogenesis imperfecta type 13 MONDO:MONDO:0013924,MedGen:C3553887,OMIM:614856,Orphanet:666 15 15 1.0000 condition_record_support_limited 20 0 5 Osteogenesis_imperfecta_type_13 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BEST1 best1_related_disorder BEST1-related disorder MedGen:CN239200 15 15 1.0000 condition_record_support_limited 20 0 13 BEST1-related_disorder 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS10 bbs10_related_disorder BBS10-related disorder . 15 15 1.0000 condition_record_support_limited 20 0 14 BBS10-related_disorder 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AVPR2 mondo_mondo_0010356_medgen_c1845202_omim_300539_orphanet_93606 Nephrogenic syndrome of inappropriate antidiuresis MONDO:MONDO:0010356,MedGen:C1845202,OMIM:300539,Orphanet:93606 15 15 1.0000 condition_record_support_limited 20 0 13 Nephrogenic_syndrome_of_inappropriate_antidiuresis 109 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2C1 mondo_mondo_0008218_medgen_c0085106_omim_169600_orphanet_2841 Familial benign pemphigus MONDO:MONDO:0008218,MedGen:C0085106,OMIM:169600,Orphanet:2841 15 15 1.0000 condition_record_support_limited 20 0 3 Familial_benign_pemphigus 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A2 mondo_mondo_0030472_medgen_c5562017_omim_619605 Developmental and epileptic encephalopathy 98 MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605 15 15 1.0000 condition_record_support_limited 20 0 13 Developmental_and_epileptic_encephalopathy_98 134 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASCC1 condition_not_provided condition not provided MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 7 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARMC9 mondo_mondo_0033308_medgen_c4539937_omim_617622 Joubert syndrome 30 MONDO:MONDO:0033308,MedGen:C4539937,OMIM:617622 15 15 1.0000 condition_record_support_limited 20 0 12 Joubert_syndrome_30 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARHGAP6 mondo_mondo_0010521_medgen_c1845053_omim_301200_orphanet_88661 Amelogenesis imperfecta type 1E MONDO:MONDO:0010521,MedGen:C1845053,OMIM:301200,Orphanet:88661 15 15 1.0000 condition_record_support_limited 20 0 1 Amelogenesis_imperfecta_type_1E 19 low_record_burden_interpretation_limited low_record_burden_gene APP mondo_mondo_0007088_medgen_c1863052_omim_104300 Alzheimer disease type 1 MONDO:MONDO:0007088,MedGen:C1863052,OMIM:104300 15 15 1.0000 condition_record_support_limited 20 0 14 Alzheimer_disease_type_1 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMH mondo_mondo_0009857_medgen_c1849930_omim_261550_orphanet_2856 Persistent Mullerian duct syndrome MONDO:MONDO:0009857,MedGen:C1849930,OMIM:261550,Orphanet:2856 15 15 1.0000 condition_record_support_limited 20 0 5 Persistent_Mullerian_duct_syndrome 30 compact_adjacent_exon_block_opportunity local_compact_architecture AMELX mondo_mondo_0010521_medgen_c1845053_omim_301200_orphanet_88661 Amelogenesis imperfecta type 1E MONDO:MONDO:0010521,MedGen:C1845053,OMIM:301200,Orphanet:88661 15 15 1.0000 condition_record_support_limited 20 0 1 Amelogenesis_imperfecta_type_1E 19 low_record_burden_interpretation_limited low_record_burden_gene ALS2 mondo_mondo_0011663_medgen_c1853396_omim_606353_orphanet_247604 Juvenile primary lateral sclerosis MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353,Orphanet:247604 15 15 1.0000 condition_record_support_limited 20 0 11 Juvenile_primary_lateral_sclerosis 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALMS1 alms1_related_disorder ALMS1-related disorder . 15 15 1.0000 condition_record_support_limited 20 0 3 ALMS1-related_disorder 999 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALG11 mondo_mondo_0013349_medgen_c3150913_omim_613661_orphanet_280071 ALG11-congenital disorder of glycosylation MONDO:MONDO:0013349,MedGen:C3150913,OMIM:613661,Orphanet:280071 15 15 1.0000 condition_record_support_limited 20 0 5 ALG11-congenital_disorder_of_glycosylation 18 low_record_burden_interpretation_limited low_record_burden_gene ALDOB condition_not_provided condition not provided .|MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 14 See_cases|not_provided 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIPL1 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 15 15 1.0000 condition_record_support_limited 20 0 12 Leber_congenital_amaurosis 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTS10 mondo_mondo_0010194_medgen_c4552002_omim_277600_orphanet_3449 Weill-Marchesani syndrome 1 MONDO:MONDO:0010194,MedGen:C4552002,OMIM:277600,Orphanet:3449 15 15 1.0000 condition_record_support_limited 20 0 2 Weill-Marchesani_syndrome_1 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACVRL1 acvrl1_related_disorder ACVRL1-related disorder . 15 15 1.0000 condition_record_support_limited 20 0 14 ACVRL1-related_disorder 546 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTC1 mondo_mondo_0013011_medgen_c2748552_omim_612794_orphanet_1478 Atrial septal defect 5 MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478 15 15 1.0000 condition_record_support_limited 20 0 12 Atrial_septal_defect_5 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACE human_phenotype_ontology_hp_0008660_mondo_mondo_0017609_medgen_c0266313_orphanet_3033 Renal tubular dysgenesis Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033 15 15 1.0000 condition_record_support_limited 20 0 7 Renal_tubular_dysgenesis 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACAN mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 15 15 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 203 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ACAD9 mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 Mitochondrial complex I deficiency MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 15 15 1.0000 condition_record_support_limited 20 0 14 Mitochondrial_complex_I_deficiency 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABL1 mondo_mondo_0060532_medgen_c4539857_omim_617602_orphanet_643503 Congenital heart defects and skeletal malformations syndrome MONDO:MONDO:0060532,MedGen:C4539857,OMIM:617602,Orphanet:643503 15 15 1.0000 condition_record_support_limited 20 0 9 Congenital_heart_defects_and_skeletal_malformations_syndrome 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCG5 condition_not_provided condition not provided MedGen:C3661900 15 15 1.0000 condition_record_support_limited 20 15 8 not_provided 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZDHHC9 mondo_mondo_0010427_medgen_c3275406_omim_300799 Syndromic X-linked intellectual disability Raymond type MONDO:MONDO:0010427,MedGen:C3275406,OMIM:300799 14 14 1.0000 condition_record_support_limited 20 0 4 Syndromic_X-linked_intellectual_disability_Raymond_type 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZDHHC24 bbs1_related_disorder BBS1-related disorder . 14 14 1.0000 condition_record_support_limited 20 0 12 BBS1-related_disorder 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WT1 mondo_mondo_0012164_medgen_c1837026_omim_608978_orphanet_3097 Meacham syndrome MONDO:MONDO:0012164,MedGen:C1837026,OMIM:608978,Orphanet:3097 14 14 1.0000 condition_record_support_limited 20 0 14 Meacham_syndrome 153 compact_adjacent_exon_block_opportunity local_compact_architecture VPS53 mondo_mondo_0014370_medgen_c4014488_omim_615851_orphanet_247198 Pontocerebellar hypoplasia type 2E MONDO:MONDO:0014370,MedGen:C4014488,OMIM:615851,Orphanet:247198 14 14 1.0000 condition_record_support_limited 20 0 3 Pontocerebellar_hypoplasia_type_2E 16 low_record_burden_interpretation_limited low_record_burden_gene USP7 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 4 not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB3 mondo_mondo_0010912_medgen_c2748801_omim_600638 Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638 14 14 1.0000 condition_record_support_limited 20 0 12 Fibrosis_of_extraocular_muscles,_congenital,_3A,_with_or_without_extraocular_involvement 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 14 14 1.0000 condition_record_support_limited 20 0 13 Inborn_genetic_diseases 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC19 condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 4 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRMT10A condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 7 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIP11 mondo_mondo_0100325_medgen_c5542277_omim_184260_orphanet_166272 Odontochondrodysplasia 1 MONDO:MONDO:0100325,MedGen:C5542277,OMIM:184260,Orphanet:166272 14 14 1.0000 condition_record_support_limited 20 0 4 Odontochondrodysplasia_1 87 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TREM2 condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 6 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM3 condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 12 not_provided 35 compact_adjacent_exon_block_opportunity local_compact_architecture TPM1 mondo_mondo_0007267_medgen_c1861863_omim_115196 Hypertrophic cardiomyopathy 3 MONDO:MONDO:0007267,MedGen:C1861863,OMIM:115196 14 14 1.0000 condition_record_support_limited 20 0 12 Hypertrophic_cardiomyopathy_3 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP63 mondo_mondo_0011535_medgen_c1854442_omim_605289_orphanet_2440 Split hand-foot malformation 4 MONDO:MONDO:0011535,MedGen:C1854442,OMIM:605289,Orphanet:2440 14 14 1.0000 condition_record_support_limited 20 0 9 Split_hand-foot_malformation_4 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP53 mondo_mondo_0023644_medgen_c0220641 Lip and oral cavity carcinoma MONDO:MONDO:0023644,MedGen:C0220641 14 14 1.0000 condition_record_support_limited 20 0 14 Lip_and_oral_cavity_carcinoma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 14 14 1.0000 condition_record_support_limited 20 0 11 Hereditary_breast_ovarian_cancer_syndrome 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TNNI3 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 14 14 1.0000 condition_record_support_limited 20 0 13 Cardiomyopathy 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNFRSF1A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 11 not_provided|not_specified 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMPRSS6 condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 5 not_provided 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM94 mondo_mondo_0032672_medgen_c5193024_omim_618316_orphanet_562569 Intellectual developmental disorder with cardiac defects and dysmorphic facies MONDO:MONDO:0032672,MedGen:C5193024,OMIM:618316,Orphanet:562569 14 14 1.0000 condition_record_support_limited 20 0 4 Intellectual_developmental_disorder_with_cardiac_defects_and_dysmorphic_facies 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TK2 mondo_mondo_0018158_medgen_c0342782_omim_ps603041_orphanet_35698 Mitochondrial DNA depletion syndrome MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041,Orphanet:35698 14 14 1.0000 condition_record_support_limited 20 0 13 Mitochondrial_DNA_depletion_syndrome 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGM5 mondo_mondo_0012345_medgen_c1853354_omim_609796_orphanet_263534 Acral peeling skin syndrome MONDO:MONDO:0012345,MedGen:C1853354,OMIM:609796,Orphanet:263534 14 14 1.0000 condition_record_support_limited 20 0 5 Acral_peeling_skin_syndrome 19 low_record_burden_interpretation_limited low_record_burden_gene TCAP mondo_mondo_0011170_medgen_c1866008_omim_601954_orphanet_34514 Autosomal recessive limb-girdle muscular dystrophy type 2G MONDO:MONDO:0011170,MedGen:C1866008,OMIM:601954,Orphanet:34514 14 14 1.0000 condition_record_support_limited 20 0 9 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2G 35 compact_adjacent_exon_block_opportunity local_compact_architecture TBX6 mondo_mondo_0007389_medgen_c4083048_omim_122600 Spondylocostal dysostosis 5 MONDO:MONDO:0007389,MedGen:C4083048,OMIM:122600 14 14 1.0000 condition_record_support_limited 20 0 2 Spondylocostal_dysostosis_5 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCE mondo_mondo_0009426_medgen_c1855840_omim_241410_orphanet_2323 Hypoparathyroidism-retardation-dysmorphism syndrome MONDO:MONDO:0009426,MedGen:C1855840,OMIM:241410,Orphanet:2323 14 14 1.0000 condition_record_support_limited 20 0 13 Hypoparathyroidism-retardation-dysmorphism_syndrome 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TALDO1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 4 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAF1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 8 See_cases|not_provided 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYN1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 6 not_provided 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUZ12 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 5 not_provided|not_specified 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STIL condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 0 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SSR4 mondo_mondo_0010490_medgen_c4012395_omim_300934_orphanet_370927 SSR4-congenital disorder of glycosylation MONDO:MONDO:0010490,MedGen:C4012395,OMIM:300934,Orphanet:370927 14 14 1.0000 condition_record_support_limited 20 0 0 SSR4-congenital_disorder_of_glycosylation 16 low_record_burden_interpretation_limited low_record_burden_gene SRRM2 condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 2 not_provided 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPATA7 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 14 14 1.0000 condition_record_support_limited 20 0 7 Leber_congenital_amaurosis 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOS1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 14 14 1.0000 condition_record_support_limited 20 0 14 Cardiovascular_phenotype 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNAP25 mondo_mondo_0014590_medgen_c4225364_omim_616330_orphanet_590 Congenital myasthenic syndrome 18 MONDO:MONDO:0014590,MedGen:C4225364,OMIM:616330,Orphanet:590 14 14 1.0000 condition_record_support_limited 20 0 8 Congenital_myasthenic_syndrome_18 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMOC1 mondo_mondo_0008800_medgen_c0599973_omim_206920_orphanet_1106 Microphthalmia with limb anomalies MONDO:MONDO:0008800,MedGen:C0599973,OMIM:206920,Orphanet:1106 14 14 1.0000 condition_record_support_limited 20 0 2 Microphthalmia_with_limb_anomalies 18 low_record_burden_interpretation_limited low_record_burden_gene SMN1 mondo_mondo_0009673_medgen_c0393538_omim_253550_orphanet_70_orphanet_83418 Spinal muscular atrophy, type II MONDO:MONDO:0009673,MedGen:C0393538,OMIM:253550,Orphanet:70,Orphanet:83418 14 14 1.0000 condition_record_support_limited 20 0 7 Spinal_muscular_atrophy,_type_II 79 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation SMARCA2 mondo_mondo_0859139_medgen_c5443984_omim_619293_orphanet_637013 Blepharophimosis-impaired intellectual development syndrome MONDO:MONDO:0859139,MedGen:C5443984,OMIM:619293,Orphanet:637013 14 14 1.0000 condition_record_support_limited 20 0 10 Blepharophimosis-impaired_intellectual_development_syndrome 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC35D1 mondo_mondo_0010013_medgen_c0432194_omim_269250_orphanet_3144 Schneckenbecken dysplasia MONDO:MONDO:0010013,MedGen:C0432194,OMIM:269250,Orphanet:3144 14 14 1.0000 condition_record_support_limited 20 0 0 Schneckenbecken_dysplasia 15 low_record_burden_interpretation_limited low_record_burden_gene SLC2A10 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 14 14 1.0000 condition_record_support_limited 20 14 12 not_provided|not_specified 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A10 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 14 14 1.0000 condition_record_support_limited 20 0 12 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A1 mondo_mondo_0011760_medgen_c0026708_omim_607016_orphanet_93474 Mucopolysaccharidosis, MPS-I-S MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016,Orphanet:93474 14 14 1.0000 condition_record_support_limited 20 0 13 Mucopolysaccharidosis,_MPS-I-S 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A3 slc12a3_related_disorder SLC12A3-related disorder . 14 14 1.0000 condition_record_support_limited 20 0 14 SLC12A3-related_disorder 453 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGPL1 mondo_mondo_0033203_medgen_c4540559_omim_617575_orphanet_506334 Nephrotic syndrome 14 MONDO:MONDO:0033203,MedGen:C4540559,OMIM:617575,Orphanet:506334 14 14 1.0000 condition_record_support_limited 20 0 3 Nephrotic_syndrome_14 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEMA6B mondo_mondo_0030034_medgen_c5394362_omim_618876 Epilepsy, progressive myoclonic, 11 MONDO:MONDO:0030034,MedGen:C5394362,OMIM:618876 14 14 1.0000 condition_record_support_limited 20 0 3 Epilepsy,_progressive_myoclonic,_11 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEC63 condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 9 not_provided 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHB mondo_mondo_0030974_medgen_c5543176_omim_619224 Mitochondrial complex 2 deficiency, nuclear type 4 MONDO:MONDO:0030974,MedGen:C5543176,OMIM:619224 14 14 1.0000 condition_record_support_limited 20 0 14 Mitochondrial_complex_2_deficiency,_nuclear_type_4 280 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SCO2 mondo_mondo_0017575_medgen_c0872218_orphanet_298 Mitochondrial neurogastrointestinal encephalomyopathy MONDO:MONDO:0017575,MedGen:C0872218,Orphanet:298 14 14 1.0000 condition_record_support_limited 20 0 10 Mitochondrial_neurogastrointestinal_encephalomyopathy 110 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SCNN1B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 5 not_provided 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCNN1A mondo_mondo_0013087_medgen_c2751666_omim_613021_orphanet_60033 Bronchiectasis with or without elevated sweat chloride 2 MONDO:MONDO:0013087,MedGen:C2751666,OMIM:613021,Orphanet:60033 14 14 1.0000 condition_record_support_limited 20 0 12 Bronchiectasis_with_or_without_elevated_sweat_chloride_2 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN9A mondo_mondo_0007571_medgen_c0014805_omim_133020_orphanet_306577_orphanet_90026 Primary erythromelalgia MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020,Orphanet:306577,Orphanet:90026 14 14 1.0000 condition_record_support_limited 20 0 7 Primary_erythromelalgia 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A scn8a_related_disorder SCN8A-related disorder . 14 14 1.0000 condition_record_support_limited 20 0 8 SCN8A-related_disorder 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A scn4a_related_disorder SCN4A-related disorder . 14 14 1.0000 condition_record_support_limited 20 0 9 SCN4A-related_disorder 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SBF2 condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 3 not_provided 88 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SBDS condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 14 14 1.0000 condition_record_support_limited 20 14 10 not_provided|not_specified 48 compact_adjacent_exon_block_opportunity local_compact_architecture RXYLT1 mondo_mondo_0014022_medgen_c3554381_omim_615041_orphanet_899 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 MONDO:MONDO:0014022,MedGen:C3554381,OMIM:615041,Orphanet:899 14 14 1.0000 condition_record_support_limited 20 0 11 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_10 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1L mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 14 14 1.0000 condition_record_support_limited 20 0 11 Joubert_syndrome_and_related_disorders 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGR mondo_mondo_0010443_medgen_c3151784_omim_300834_orphanet_1872 Macular degeneration, X-linked atrophic MONDO:MONDO:0010443,MedGen:C3151784,OMIM:300834,Orphanet:1872 14 14 1.0000 condition_record_support_limited 20 0 14 Macular_degeneration,_X-linked_atrophic 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 14 14 1.0000 condition_record_support_limited 20 0 12 Retinitis_pigmentosa 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RORA condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 2 not_provided 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNF216 mondo_mondo_0008935_medgen_c1859305_omim_212840_orphanet_1173 Cerebellar ataxia-hypogonadism syndrome MONDO:MONDO:0008935,MedGen:C1859305,OMIM:212840,Orphanet:1173 14 14 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia-hypogonadism_syndrome 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLBP1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 14 14 1.0000 condition_record_support_limited 20 0 13 Retinitis_pigmentosa 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIPK1 condition_not_provided condition not provided .|MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 3 See_cases|not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIN2 condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 2 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene RFXANK mondo_mondo_0971013_medgen_c1859535_omim_620815 MHC class II deficiency 2 MONDO:MONDO:0971013,MedGen:C1859535,OMIM:620815 14 14 1.0000 condition_record_support_limited 20 0 9 MHC_class_II_deficiency_2 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAI1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 14 14 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 161 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RAB3GAP2 mondo_mondo_0023910_medgen_c0796037_omim_ps212720_orphanet_1387 Martsolf syndrome MONDO:MONDO:0023910,MedGen:C0796037,OMIM:PS212720,Orphanet:1387 14 14 1.0000 condition_record_support_limited 20 0 10 Martsolf_syndrome 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PURA human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 14 14 1.0000 condition_record_support_limited 20 0 14 Intellectual_disability 218 single_exon_hotspot_opportunity local_compact_architecture PTPN23 mondo_mondo_0030046_medgen_c5394423_omim_618890 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MONDO:MONDO:0030046,MedGen:C5394423,OMIM:618890 14 14 1.0000 condition_record_support_limited 20 0 5 Neurodevelopmental_disorder_and_structural_brain_anomalies_with_or_without_seizures_and_spasticity 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPH2 mondo_mondo_0013137_medgen_c2751290_omim_613105_orphanet_75377 Choroidal dystrophy, central areolar 2 MONDO:MONDO:0013137,MedGen:C2751290,OMIM:613105,Orphanet:75377 14 14 1.0000 condition_record_support_limited 20 0 12 Choroidal_dystrophy,_central_areolar_2 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRMT7 condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 8 not_provided 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKN mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 14 14 1.0000 condition_record_support_limited 20 0 14 Ovarian_cancer 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPIB condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 6 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR1D mondo_mondo_0013385_medgen_c3150983_omim_613717_orphanet_861 Treacher Collins syndrome 2 MONDO:MONDO:0013385,MedGen:C3150983,OMIM:613717,Orphanet:861 14 14 1.0000 condition_record_support_limited 20 0 3 Treacher_Collins_syndrome_2 19 low_record_burden_interpretation_limited low_record_burden_gene PKDCC condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 5 not_provided 20 compact_adjacent_exon_block_opportunity local_compact_architecture PKD1 cystic_renal_disease Cystic renal disease . 14 14 1.0000 condition_record_support_limited 20 0 11 Cystic_renal_disease 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PIKFYVE mondo_mondo_0007376_medgen_c1562113_omim_121850_orphanet_98970 Fleck corneal dystrophy MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850,Orphanet:98970 14 14 1.0000 condition_record_support_limited 20 0 0 Fleck_corneal_dystrophy 24 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PIGL condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 3 not_provided 20 compact_adjacent_exon_block_opportunity local_compact_architecture PHOX2B mondo_mondo_0800031_medgen_c1275808_omim_ps209880_orphanet_661_orphanet_99803 Congenital central hypoventilation MONDO:MONDO:0800031,MedGen:C1275808,OMIM:PS209880,Orphanet:661,Orphanet:99803 14 14 1.0000 condition_record_support_limited 20 0 12 Congenital_central_hypoventilation 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PGAP1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 4 not_provided 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX5 mondo_mondo_0008954_medgen_c3550273_omim_214110_orphanet_912 Peroxisome biogenesis disorder 2A (Zellweger) MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110,Orphanet:912 14 14 1.0000 condition_record_support_limited 20 0 14 Peroxisome_biogenesis_disorder_2A_(Zellweger) 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6C human_phenotype_ontology_hp_0011516_mondo_mondo_0018852_medgen_c0152200_orphanet_49382 Achromatopsia Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382 14 14 1.0000 condition_record_support_limited 20 0 4 Achromatopsia 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX5 human_phenotype_ontology_hp_0004803_human_phenotype_ontology_hp_0005555_human_phenotype_ontology_hp_0006721_mondo_mondo_0004967_medgen_c0023449_omim_613065_orphanet_513 Acute lymphoid leukemia Human_Phenotype_Ontology:HP:0004803,Human_Phenotype_Ontology:HP:0005555,Human_Phenotype_Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513 14 14 1.0000 condition_record_support_limited 20 0 0 Acute_lymphoid_leukemia 18 low_record_burden_interpretation_limited low_record_burden_gene ODAD1 mondo_mondo_0014030_medgen_c3540844_omim_615067_orphanet_244 Primary ciliary dyskinesia 20 MONDO:MONDO:0014030,MedGen:C3540844,OMIM:615067,Orphanet:244 14 14 1.0000 condition_record_support_limited 20 0 8 Primary_ciliary_dyskinesia_20 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NUP107 condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 3 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NT5C3A mondo_mondo_0009946_medgen_c1849507_omim_266120_orphanet_35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency MONDO:MONDO:0009946,MedGen:C1849507,OMIM:266120,Orphanet:35120 14 14 1.0000 condition_record_support_limited 20 0 3 Hemolytic_anemia_due_to_pyrimidine_5'_nucleotidase_deficiency 19 low_record_burden_interpretation_limited low_record_burden_gene NSDHL mondo_mondo_0010621_medgen_c0265267_omim_308050_orphanet_139 Child syndrome MONDO:MONDO:0010621,MedGen:C0265267,OMIM:308050,Orphanet:139 14 14 1.0000 condition_record_support_limited 20 0 4 Child_syndrome 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAS condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 13 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPRL2 mondo_mondo_0014924_medgen_c4310709_omim_617116 Epilepsy, familial focal, with variable foci 2 MONDO:MONDO:0014924,MedGen:C4310709,OMIM:617116 14 14 1.0000 condition_record_support_limited 20 0 2 Epilepsy,_familial_focal,_with_variable_foci_2 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NOTCH3 mondo_mondo_0007432_medgen_c0751587_omim_ps125310 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy MONDO:MONDO:0007432,MedGen:C0751587,OMIM:PS125310 14 14 1.0000 condition_record_support_limited 20 0 13 Cerebral_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOD2 mondo_mondo_0008523_medgen_c5201146_omim_186580_orphanet_90340 Blau syndrome MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340 14 14 1.0000 condition_record_support_limited 20 0 9 Blau_syndrome 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFAF2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 14 14 1.0000 condition_record_support_limited 20 14 8 not_provided|not_specified 23 compact_adjacent_exon_block_opportunity local_compact_architecture NDUFAF2 mondo_mondo_0032616_medgen_c4748768_omim_618233 Mitochondrial complex I deficiency, nuclear type 10 MONDO:MONDO:0032616,MedGen:C4748768,OMIM:618233 14 14 1.0000 condition_record_support_limited 20 0 7 Mitochondrial_complex_I_deficiency,_nuclear_type_10 23 compact_adjacent_exon_block_opportunity local_compact_architecture MYRF condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 2 not_provided 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO15A human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 14 14 1.0000 condition_record_support_limited 20 0 10 Hearing_impairment 714 large_gene_or_donor_burden_stress_case donor_burden_stress MYBPC3 mondo_mondo_0008647_medgen_c3495498_omim_192600 Hypertrophic cardiomyopathy 1 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 14 14 1.0000 condition_record_support_limited 20 0 13 Hypertrophic_cardiomyopathy_1 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MUTYH mutyh_related_disorder MUTYH-related disorder . 14 14 1.0000 condition_record_support_limited 20 0 13 MUTYH-related_disorder 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MMUT medgen_c1855115 METHYLMALONIC ACIDURIA, mut(0) TYPE MedGen:C1855115 14 14 1.0000 condition_record_support_limited 20 0 13 METHYLMALONIC_ACIDURIA,_mut(0)_TYPE 408 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MKKS condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 10 not_provided 124 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MICU1 mondo_mondo_0014300_medgen_c3810285_omim_615673_orphanet_401768 Proximal myopathy with extrapyramidal signs MONDO:MONDO:0014300,MedGen:C3810285,OMIM:615673,Orphanet:401768 14 14 1.0000 condition_record_support_limited 20 0 8 Proximal_myopathy_with_extrapyramidal_signs 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFRP human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 14 14 1.0000 condition_record_support_limited 20 0 11 Retinal_dystrophy 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED16 mondo_mondo_0979227_medgen_c6012729_omim_621220 Guillouet-Gordon syndrome MONDO:MONDO:0979227,MedGen:C6012729,OMIM:621220 14 14 1.0000 condition_record_support_limited 20 0 0 Guillouet-Gordon_syndrome 16 low_record_burden_interpretation_limited low_record_burden_gene MDH2 condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 1 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCOLN1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 11 not_provided 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAT1A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 10 not_provided 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAPK8IP3 mondo_mondo_0032755_medgen_c5193102_omim_618443 Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA MONDO:MONDO:0032755,MedGen:C5193102,OMIM:618443 14 14 1.0000 condition_record_support_limited 20 0 5 Neurodevelopmental_disorder_with_or_without_variable_brain_abnormalities%3B_NEDBA 19 low_record_burden_interpretation_limited low_record_burden_gene MAP2K2 mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 14 14 1.0000 condition_record_support_limited 20 0 11 RASopathy 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAG mondo_mondo_0014729_medgen_c4225250_omim_616680_orphanet_459056 Hereditary spastic paraplegia 75 MONDO:MONDO:0014729,MedGen:C4225250,OMIM:616680,Orphanet:459056 14 14 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia_75 16 low_record_burden_interpretation_limited low_record_burden_gene MAF condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 10 See_cases|not_provided 40 compact_adjacent_exon_block_opportunity local_compact_architecture MAF mondo_mondo_0012437_medgen_c1857768_omim_610202_orphanet_91492 Cataract 21 multiple types MONDO:MONDO:0012437,MedGen:C1857768,OMIM:610202,Orphanet:91492 14 14 1.0000 condition_record_support_limited 20 0 9 Cataract_21_multiple_types 40 compact_adjacent_exon_block_opportunity local_compact_architecture LONP1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 1 See_cases|not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMNA mondo_mondo_0030781_medgen_c5676942_omim_619793 Restrictive dermopathy 2 MONDO:MONDO:0030781,MedGen:C5676942,OMIM:619793 14 14 1.0000 condition_record_support_limited 20 0 14 Restrictive_dermopathy_2 536 compact_adjacent_exon_block_opportunity local_compact_architecture LGI4 mondo_mondo_0060486_medgen_c4479539_omim_617468 Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect MONDO:MONDO:0060486,MedGen:C4479539,OMIM:617468 14 14 1.0000 condition_record_support_limited 20 0 0 Arthrogryposis_multiplex_congenita_1,_neurogenic,_with_myelin_defect 17 low_record_burden_interpretation_limited low_record_burden_gene LCAT mondo_mondo_0018999_medgen_c5779633_orphanet_650_orphanet_79293 LCAT deficiency MONDO:MONDO:0018999,MedGen:C5779633,Orphanet:650,Orphanet:79293 14 14 1.0000 condition_record_support_limited 20 0 5 LCAT_deficiency 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LBR condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 5 not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture L1CAM l1cam_related_disorder L1CAM-related disorder . 14 14 1.0000 condition_record_support_limited 20 0 5 L1CAM-related_disorder 203 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRIT1 mondo_mondo_0020724_medgen_c1366911 Cerebral cavernous malformation 1 MONDO:MONDO:0020724,MedGen:C1366911 14 14 1.0000 condition_record_support_limited 20 0 11 Cerebral_cavernous_malformation_1 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0014112_medgen_c3809005_omim_615278_orphanet_1340 Cardiofaciocutaneous syndrome 2 MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340 14 14 1.0000 condition_record_support_limited 20 0 12 Cardiofaciocutaneous_syndrome_2 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KMT2A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 14 14 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability 520 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KLF1 condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 5 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNH1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 6 See_cases|not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNE1 mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 14 14 1.0000 condition_record_support_limited 20 0 10 Long_QT_syndrome 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCND3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 8 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JAK3 human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 14 14 1.0000 condition_record_support_limited 20 0 12 Severe_combined_immunodeficiency_disease 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL2RA mondo_mondo_0011664_medgen_c1853392_omim_606367_orphanet_169100 Immunodeficiency due to CD25 deficiency MONDO:MONDO:0011664,MedGen:C1853392,OMIM:606367,Orphanet:169100 14 14 1.0000 condition_record_support_limited 20 0 2 Immunodeficiency_due_to_CD25_deficiency 15 low_record_burden_interpretation_limited low_record_burden_gene IKBKG mondo_mondo_0020740_medgen_c1846008_omim_300291_orphanet_238468_orphanet_98813 Ectodermal dysplasia and immunodeficiency 1 MONDO:MONDO:0020740,MedGen:C1846008,OMIM:300291,Orphanet:238468,Orphanet:98813 14 14 1.0000 condition_record_support_limited 20 0 6 Ectodermal_dysplasia_and_immunodeficiency_1 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGF2 mondo_mondo_0014663_medgen_c4225307_omim_616489 Silver-Russell syndrome 3 MONDO:MONDO:0014663,MedGen:C4225307,OMIM:616489 14 14 1.0000 condition_record_support_limited 20 0 2 Silver-Russell_syndrome_3 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSD17B10 mondo_mondo_0010327_medgen_c3266731_omim_300438_orphanet_391417_orphanet_85295 HSD10 mitochondrial disease MONDO:MONDO:0010327,MedGen:C3266731,OMIM:300438,Orphanet:391417,Orphanet:85295 14 14 1.0000 condition_record_support_limited 20 0 3 HSD10_mitochondrial_disease 17 low_record_burden_interpretation_limited low_record_burden_gene HR condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 1 not_provided 33 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture HNRNPA1 mondo_mondo_0005284_medgen_c0393665 Chronic progressive multiple sclerosis MONDO:MONDO:0005284,MedGen:C0393665 14 14 1.0000 condition_record_support_limited 20 0 0 Chronic_progressive_multiple_sclerosis 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF4A mondo_mondo_0014458_medgen_c4014962_omim_616026_orphanet_93111 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young MONDO:MONDO:0014458,MedGen:C4014962,OMIM:616026,Orphanet:93111 14 14 1.0000 condition_record_support_limited 20 0 14 Fanconi_renotubular_syndrome_4_with_maturity-onset_diabetes_of_the_young 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HELLS condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 2 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HCN1 mondo_mondo_0032777_medgen_c5193120_omim_618482 Generalized epilepsy with febrile seizures plus, type 10 MONDO:MONDO:0032777,MedGen:C5193120,OMIM:618482 14 14 1.0000 condition_record_support_limited 20 0 4 Generalized_epilepsy_with_febrile_seizures_plus,_type_10 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HCN1 mondo_mondo_0800491_medgen_c0393706_orphanet_1934 Early-infantile DEE MONDO:MONDO:0800491,MedGen:C0393706,Orphanet:1934 14 14 1.0000 condition_record_support_limited 20 0 5 Early-infantile_DEE 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HARS2 mondo_mondo_0013972_medgen_c3554105_omim_614926_orphanet_2855_orphanet_642976 Perrault syndrome 2 MONDO:MONDO:0013972,MedGen:C3554105,OMIM:614926,Orphanet:2855,Orphanet:642976 14 14 1.0000 condition_record_support_limited 20 0 4 Perrault_syndrome_2 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GYS2 condition_not_provided condition not provided .|MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 9 See_cases|not_provided 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIA3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 5 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP1BA mondo_mondo_0009789_medgen_c1847711_omim_258660 Nonarteritic anterior ischemic optic neuropathy, susceptibility to MONDO:MONDO:0009789,MedGen:C1847711,OMIM:258660 14 14 1.0000 condition_record_support_limited 20 0 14 Nonarteritic_anterior_ischemic_optic_neuropathy,_susceptibility_to 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GMPPA mondo_mondo_0014219_medgen_c4706563_omim_615510_orphanet_869 Alacrima, achalasia, and intellectual disability syndrome MONDO:MONDO:0014219,MedGen:C4706563,OMIM:615510,Orphanet:869 14 14 1.0000 condition_record_support_limited 20 0 4 Alacrima,_achalasia,_and_intellectual_disability_syndrome 17 low_record_burden_interpretation_limited low_record_burden_gene GM2A mondo_mondo_0010099_medgen_c0268275_omim_272750_orphanet_309246 Tay-Sachs disease, variant AB MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750,Orphanet:309246 14 14 1.0000 condition_record_support_limited 20 0 2 Tay-Sachs_disease,_variant_AB 16 low_record_burden_interpretation_limited low_record_burden_gene GJB2 monogenic_hearing_loss Monogenic hearing loss . 14 14 1.0000 condition_record_support_limited 20 0 14 Monogenic_hearing_loss 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GGCX mondo_mondo_0010187_medgen_c1848534_omim_277450_orphanet_98434 Vitamin K-dependent clotting factors, combined deficiency of, type 1 MONDO:MONDO:0010187,MedGen:C1848534,OMIM:277450,Orphanet:98434 14 14 1.0000 condition_record_support_limited 20 0 5 Vitamin_K-dependent_clotting_factors,_combined_deficiency_of,_type_1 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDF2 mondo_mondo_0014217_medgen_c3809710_omim_615506_orphanet_774 Telangiectasia, hereditary hemorrhagic, type 5 MONDO:MONDO:0014217,MedGen:C3809710,OMIM:615506,Orphanet:774 14 14 1.0000 condition_record_support_limited 20 0 3 Telangiectasia,_hereditary_hemorrhagic,_type_5 14 low_record_burden_interpretation_limited low_record_burden_gene GATAD2B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 14 14 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA6 mondo_mondo_0013769_medgen_c3280939_omim_614474 Atrioventricular septal defect 5 MONDO:MONDO:0013769,MedGen:C3280939,OMIM:614474 14 14 1.0000 condition_record_support_limited 20 0 5 Atrioventricular_septal_defect_5 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GARS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 8 not_provided|not_specified 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAREM2 mondo_mondo_0958181_medgen_cn376812_omim_609015 Mitochondrial trifunctional protein deficiency 1 MONDO:MONDO:0958181,MedGen:CN376812,OMIM:609015 14 14 1.0000 condition_record_support_limited 20 0 13 Mitochondrial_trifunctional_protein_deficiency_1 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRG2 mondo_mondo_0032725_medgen_c5193074_omim_618396 Developmental and epileptic encephalopathy, 74 MONDO:MONDO:0032725,MedGen:C5193074,OMIM:618396 14 14 1.0000 condition_record_support_limited 20 0 9 Developmental_and_epileptic_encephalopathy,_74 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAA cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 14 14 1.0000 condition_record_support_limited 20 0 14 Cardiovascular_phenotype 739 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FZD4 mondo_mondo_0007589_medgen_c1851402_omim_133780_orphanet_891_orphanet_90050 Exudative vitreoretinopathy 1 MONDO:MONDO:0007589,MedGen:C1851402,OMIM:133780,Orphanet:891,Orphanet:90050 14 14 1.0000 condition_record_support_limited 20 0 5 Exudative_vitreoretinopathy_1 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FRMPD4 mondo_mondo_0010509_medgen_c4310817_omim_300983 Intellectual disability, X-linked 104 MONDO:MONDO:0010509,MedGen:C4310817,OMIM:300983 14 14 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_X-linked_104 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXN1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 14 14 1.0000 condition_record_support_limited 20 14 7 not_provided|not_specified 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXL2 mondo_mondo_0012169_medgen_c1837008_omim_608996 Premature ovarian failure 3 MONDO:MONDO:0012169,MedGen:C1837008,OMIM:608996 14 14 1.0000 condition_record_support_limited 20 0 11 Premature_ovarian_failure_3 174 single_exon_hotspot_opportunity local_compact_architecture FOXG1 mondo_mondo_0010726_medgen_c0035372_omim_312750_orphanet_3095_orphanet_778 Rett syndrome MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:3095,Orphanet:778 14 14 1.0000 condition_record_support_limited 20 0 10 Rett_syndrome 278 single_exon_hotspot_opportunity local_compact_architecture FN1 mondo_mondo_0008479_medgen_c0432221_omim_184255_orphanet_93315 Spondylometaphyseal dysplasia - Sutcliffe type MONDO:MONDO:0008479,MedGen:C0432221,OMIM:184255,Orphanet:93315 14 14 1.0000 condition_record_support_limited 20 0 8 Spondylometaphyseal_dysplasia_-_Sutcliffe_type 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLVCR2 mondo_mondo_0009168_medgen_c1856972_omim_225790_orphanet_221126 Fowler syndrome MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790,Orphanet:221126 14 14 1.0000 condition_record_support_limited 20 0 1 Fowler_syndrome 21 compact_adjacent_exon_block_opportunity local_compact_architecture FLNA mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 14 14 1.0000 condition_record_support_limited 20 0 6 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FHL1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 6 not_provided 101 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 mondo_mondo_0008547_medgen_c1300257_omim_187601_orphanet_2655_orphanet_93274 Thanatophoric dysplasia, type 2 MONDO:MONDO:0008547,MedGen:C1300257,OMIM:187601,Orphanet:2655,Orphanet:93274 14 14 1.0000 condition_record_support_limited 20 0 14 Thanatophoric_dysplasia,_type_2 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 mondo_mondo_0011274_medgen_c1864436_omim_602849_orphanet_53271 Muenke syndrome MONDO:MONDO:0011274,MedGen:C1864436,OMIM:602849,Orphanet:53271 14 14 1.0000 condition_record_support_limited 20 0 14 Muenke_syndrome 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 mondo_mondo_0012833_medgen_c2677099_omim_612247_orphanet_93262 Crouzon syndrome-acanthosis nigricans syndrome MONDO:MONDO:0012833,MedGen:C2677099,OMIM:612247,Orphanet:93262 14 14 1.0000 condition_record_support_limited 20 0 14 Crouzon_syndrome-acanthosis_nigricans_syndrome 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 mondo_mondo_0007412_medgen_c1852406_omim_123790_orphanet_1555 Beare-Stevenson cutis gyrata syndrome MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790,Orphanet:1555 14 14 1.0000 condition_record_support_limited 20 0 13 Beare-Stevenson_cutis_gyrata_syndrome 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 mondo_mondo_0020667_medgen_c2936791_omim_207410_orphanet_596008_orphanet_83 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis MONDO:MONDO:0020667,MedGen:C2936791,OMIM:207410,Orphanet:596008,Orphanet:83 14 14 1.0000 condition_record_support_limited 20 0 14 Antley-Bixler_syndrome_without_genital_anomalies_or_disordered_steroidogenesis 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 mondo_mondo_0008150_medgen_c0432283_omim_166250_orphanet_2645 Osteoglophonic dysplasia MONDO:MONDO:0008150,MedGen:C0432283,OMIM:166250,Orphanet:2645 14 14 1.0000 condition_record_support_limited 20 0 10 Osteoglophonic_dysplasia 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 fgfr1_related_disorder FGFR1-related disorder MedGen:CN380097 14 14 1.0000 condition_record_support_limited 20 0 11 FGFR1-related_disorder 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FASTKD2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 7 not_provided 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAS medgen_c1866119 FAS-related autoimmune lymphoproliferative syndrome MedGen:C1866119 14 14 1.0000 condition_record_support_limited 20 0 5 FAS-related_autoimmune_lymphoproliferative_syndrome 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FARS2 condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 13 not_provided 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCM mondo_mondo_0054732_medgen_c4748117_omim_618086 Spermatogenic failure 28 MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086 14 14 1.0000 condition_record_support_limited 20 0 11 Spermatogenic_failure_28 201 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FANCM mondo_mondo_0054862_medgen_c4748170_omim_618096 Premature ovarian failure 15 MONDO:MONDO:0054862,MedGen:C4748170,OMIM:618096 14 14 1.0000 condition_record_support_limited 20 0 13 Premature_ovarian_failure_15 201 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture F9 f9_related_disorder F9-related disorder . 14 14 1.0000 condition_record_support_limited 20 0 7 F9-related_disorder 299 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F10 mondo_mondo_0002247_mesh_d005171_medgen_c0015519 Factor X deficiency MONDO:MONDO:0002247,MeSH:D005171,MedGen:C0015519 14 14 1.0000 condition_record_support_limited 20 0 3 Factor_X_deficiency 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EZH2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 6 not_provided 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA1 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 14 14 1.0000 condition_record_support_limited 20 0 4 Rare_genetic_deafness 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETV6 mondo_mondo_0014536_medgen_c4015537_omim_616216 Thrombocytopenia 5 MONDO:MONDO:0014536,MedGen:C4015537,OMIM:616216 14 14 1.0000 condition_record_support_limited 20 0 7 Thrombocytopenia_5 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC8 mondo_mondo_0016006_medgen_c0009207_orphanet_191 Cockayne syndrome MONDO:MONDO:0016006,MedGen:C0009207,Orphanet:191 14 14 1.0000 condition_record_support_limited 20 0 13 Cockayne_syndrome 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC6 ercc6_related_disorder ERCC6-related disorder MedGen:CN239385 14 14 1.0000 condition_record_support_limited 20 0 12 ERCC6-related_disorder 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC2 ercc2_related_disorder ERCC2-related disorder MedGen:CN239291 14 14 1.0000 condition_record_support_limited 20 0 10 ERCC2-related_disorder 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EP300 ep300_related_disorder EP300-related disorder . 14 14 1.0000 condition_record_support_limited 20 0 5 EP300-related_disorder 264 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ELP4 mondo_mondo_0024507_medgen_c0344542_omim_106210_orphanet_250923 Aniridia 1 MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210,Orphanet:250923 14 14 1.0000 condition_record_support_limited 20 0 6 Aniridia_1 19 low_record_burden_interpretation_limited low_record_burden_gene EGLN1 mondo_mondo_0012353_medgen_c1853286_omim_609820_orphanet_247511 Erythrocytosis, familial, 3 MONDO:MONDO:0012353,MedGen:C1853286,OMIM:609820,Orphanet:247511 14 14 1.0000 condition_record_support_limited 20 0 1 Erythrocytosis,_familial,_3 15 low_record_burden_interpretation_limited low_record_burden_gene EGFR human_phenotype_ontology_hp_0030078_mondo_mondo_0005061_mesh_d000077192_medgen_c0152013 Lung adenocarcinoma Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013 14 14 1.0000 condition_record_support_limited 20 0 7 Lung_adenocarcinoma 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC1H1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 14 14 1.0000 condition_record_support_limited 20 0 8 Inborn_genetic_diseases 176 large_gene_or_donor_burden_stress_case donor_burden_stress DONSON mondo_mondo_0060533_medgen_c4539873_omim_617604_orphanet_572773 Microcephaly, short stature, and limb abnormalities MONDO:MONDO:0060533,MedGen:C4539873,OMIM:617604,Orphanet:572773 14 14 1.0000 condition_record_support_limited 20 0 7 Microcephaly,_short_stature,_and_limb_abnormalities 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT3B mondo_mondo_0009454_medgen_c4551557_omim_242860_orphanet_2268 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 MONDO:MONDO:0009454,MedGen:C4551557,OMIM:242860,Orphanet:2268 14 14 1.0000 condition_record_support_limited 20 0 8 Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_1 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJB6 mondo_mondo_0021018_medgen_c4721885_omim_603511_orphanet_34516 Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) MONDO:MONDO:0021018,MedGen:C4721885,OMIM:603511,Orphanet:34516 14 14 1.0000 condition_record_support_limited 20 0 6 Autosomal_dominant_limb-girdle_muscular_dystrophy_type_1D_(DNAJB6) 14 low_record_burden_interpretation_limited low_record_burden_gene DNAAF4 mondo_mondo_0014203_medgen_c3809641_omim_615482_orphanet_244 Primary ciliary dyskinesia 25 MONDO:MONDO:0014203,MedGen:C3809641,OMIM:615482,Orphanet:244 14 14 1.0000 condition_record_support_limited 20 0 11 Primary_ciliary_dyskinesia_25 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF3 mondo_mondo_0011718_medgen_c1847554_omim_606763_orphanet_244 Primary ciliary dyskinesia 2 MONDO:MONDO:0011718,MedGen:C1847554,OMIM:606763,Orphanet:244 14 14 1.0000 condition_record_support_limited 20 0 8 Primary_ciliary_dyskinesia_2 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DMP1 condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 4 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene DEAF1 mondo_mondo_0014952_medgen_c4310683_omim_617171_orphanet_468620 Intellectual disability-epilepsy-extrapyramidal syndrome MONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171,Orphanet:468620 14 14 1.0000 condition_record_support_limited 20 0 6 Intellectual_disability-epilepsy-extrapyramidal_syndrome 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP4F22 mondo_mondo_0017778_medgen_c5848247_orphanet_313 Lamellar ichthyosis MONDO:MONDO:0017778,MedGen:C5848247,Orphanet:313 14 14 1.0000 condition_record_support_limited 20 0 10 Lamellar_ichthyosis 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL7 mondo_mondo_0007477_medgen_c1848862_omim_ps273750_orphanet_2616 3-M syndrome MONDO:MONDO:0007477,MedGen:C1848862,OMIM:PS273750,Orphanet:2616 14 14 1.0000 condition_record_support_limited 20 0 9 3-M_syndrome 126 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CTNNB1 ctnnb1_related_disorder CTNNB1-related disorder . 14 14 1.0000 condition_record_support_limited 20 0 5 CTNNB1-related_disorder 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTLA4 condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 10 not_provided 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 14 14 1.0000 condition_record_support_limited 20 0 10 Inborn_genetic_diseases 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRYBA1 mondo_mondo_0010948_medgen_c1833229_omim_600881_orphanet_91492 Cataract 10 multiple types MONDO:MONDO:0010948,MedGen:C1833229,OMIM:600881,Orphanet:91492 14 14 1.0000 condition_record_support_limited 20 0 4 Cataract_10_multiple_types 16 low_record_burden_interpretation_limited low_record_burden_gene CRB1 crb1_related_disorder CRB1-related disorder . 14 14 1.0000 condition_record_support_limited 20 0 14 CRB1-related_disorder 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPS1 condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 11 not_provided 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPAMD8 mondo_mondo_0015017_medgen_c4310622_omim_617319_orphanet_519388 Anterior segment dysgenesis 8 MONDO:MONDO:0015017,MedGen:C4310622,OMIM:617319,Orphanet:519388 14 14 1.0000 condition_record_support_limited 20 0 5 Anterior_segment_dysgenesis_8 27 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CORO1A mondo_mondo_0014168_medgen_c3809383_omim_615401_orphanet_228003 Severe combined immunodeficiency due to CORO1A deficiency MONDO:MONDO:0014168,MedGen:C3809383,OMIM:615401,Orphanet:228003 14 14 1.0000 condition_record_support_limited 20 0 0 Severe_combined_immunodeficiency_due_to_CORO1A_deficiency 17 low_record_burden_interpretation_limited low_record_burden_gene COLQ condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 10 not_provided 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A2 mondo_mondo_0010844_medgen_c1838429_omim_600204 Epiphyseal dysplasia, multiple, 2 MONDO:MONDO:0010844,MedGen:C1838429,OMIM:600204 14 14 1.0000 condition_record_support_limited 20 0 5 Epiphyseal_dysplasia,_multiple,_2 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 14 14 1.0000 condition_record_support_limited 20 0 11 Inborn_genetic_diseases 860 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL4A3 human_phenotype_ontology_hp_0000790_medgen_c0018965 Hematuria Human_Phenotype_Ontology:HP:0000790,MedGen:C0018965 14 14 1.0000 condition_record_support_limited 20 0 11 Hematuria 855 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 14 14 1.0000 condition_record_support_limited 20 0 11 Cardiovascular_phenotype 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL17A1 mondo_mondo_0009180_medgen_c0268374_omim_226650_orphanet_251393_orphanet_79402_orphanet_79405_orphanet_89840 Junctional epidermolysis bullosa, non-Herlitz type MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840 14 14 1.0000 condition_record_support_limited 20 0 8 Junctional_epidermolysis_bullosa,_non-Herlitz_type 180 large_gene_or_donor_burden_stress_case donor_burden_stress COL17A1 mondo_mondo_0007094_medgen_c4011403_omim_104530_orphanet_88661 Amelogenesis imperfecta type 1A MONDO:MONDO:0007094,MedGen:C4011403,OMIM:104530,Orphanet:88661 14 14 1.0000 condition_record_support_limited 20 0 4 Amelogenesis_imperfecta_type_1A 180 large_gene_or_donor_burden_stress_case donor_burden_stress CNTNAP1 mondo_mondo_0020766_medgen_c4748608_omim_618186 Neuropathy, congenital hypomyelinating, 3 MONDO:MONDO:0020766,MedGen:C4748608,OMIM:618186 14 14 1.0000 condition_record_support_limited 20 0 5 Neuropathy,_congenital_hypomyelinating,_3 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 14 14 1.0000 condition_record_support_limited 20 0 10 Retinal_dystrophy 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN5 condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 14 not_provided 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLDN16 condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 10 not_provided 56 compact_adjacent_exon_block_opportunity local_compact_architecture CHST14 mondo_mondo_0020681_medgen_cn295219_omim_601776 Ehlers-Danlos syndrome, musculocontractural type 1 MONDO:MONDO:0020681,MedGen:CN295219,OMIM:601776 14 14 1.0000 condition_record_support_limited 20 0 4 Ehlers-Danlos_syndrome,_musculocontractural_type_1 37 single_exon_hotspot_opportunity local_compact_architecture CHRDL1 human_phenotype_ontology_hp_0000485_human_phenotype_ontology_hp_0007660_mondo_mondo_0009576_medgen_c5574682_omim_249300 Megalocornea Human_Phenotype_Ontology:HP:0000485,Human_Phenotype_Ontology:HP:0007660,MONDO:MONDO:0009576,MedGen:C5574682,OMIM:249300 14 14 1.0000 condition_record_support_limited 20 0 0 Megalocornea 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKN1C condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 7 not_provided 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDHR1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 14 14 1.0000 condition_record_support_limited 20 0 7 Retinal_dystrophy 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH23 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 14 14 1.0000 condition_record_support_limited 20 0 13 Hearing_loss,_autosomal_recessive 725 large_gene_or_donor_burden_stress_case donor_burden_stress CDC45 condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 1 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC42BPB condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 4 not_provided 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD27 mondo_mondo_0014054_medgen_c3554540_omim_615122_orphanet_238505 Lymphoproliferative syndrome 2 MONDO:MONDO:0014054,MedGen:C3554540,OMIM:615122,Orphanet:238505 14 14 1.0000 condition_record_support_limited 20 0 3 Lymphoproliferative_syndrome_2 17 low_record_burden_interpretation_limited low_record_burden_gene C1R mondo_mondo_0014954_medgen_c4310681_omim_617174 Ehlers-Danlos syndrome, periodontal type 2 MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174 14 14 1.0000 condition_record_support_limited 20 0 14 Ehlers-Danlos_syndrome,_periodontal_type_2 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C1QTNF5 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 14 14 1.0000 condition_record_support_limited 20 0 11 Retinal_dystrophy 70 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture C11ORF65 inherited_breast_cancer_and_ovarian_cancer Inherited breast cancer and ovarian cancer . 14 14 1.0000 condition_record_support_limited 20 0 12 Inherited_breast_cancer_and_ovarian_cancer 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C10ORF105 mondo_mondo_0011067_medgen_c1832394_omim_601386_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 12 MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636 14 14 1.0000 condition_record_support_limited 20 0 9 Autosomal_recessive_nonsyndromic_hearing_loss_12 65 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture BSCL2 mondo_mondo_0010043_medgen_c2931276_omim_270685_orphanet_100998 Hereditary spastic paraplegia 17 MONDO:MONDO:0010043,MedGen:C2931276,OMIM:270685,Orphanet:100998 14 14 1.0000 condition_record_support_limited 20 0 14 Hereditary_spastic_paraplegia_17 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMPR1A mondo_mondo_0012405_medgen_c1864730_omim_610069_orphanet_157794 Polyposis syndrome, hereditary mixed, 2 MONDO:MONDO:0012405,MedGen:C1864730,OMIM:610069,Orphanet:157794 14 14 1.0000 condition_record_support_limited 20 0 9 Polyposis_syndrome,_hereditary_mixed,_2 295 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BICD2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 8 not_provided 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B4GALNT1 mondo_mondo_0012213_medgen_c1836632_omim_609195_orphanet_101006 Hereditary spastic paraplegia 26 MONDO:MONDO:0012213,MedGen:C1836632,OMIM:609195,Orphanet:101006 14 14 1.0000 condition_record_support_limited 20 0 5 Hereditary_spastic_paraplegia_26 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AVP condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 6 not_provided 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP8B1 mondo_mondo_0015762_medgen_c0268312_omim_ps211600_orphanet_172 Progressive familial intrahepatic cholestasis MONDO:MONDO:0015762,MedGen:C0268312,OMIM:PS211600,Orphanet:172 14 14 1.0000 condition_record_support_limited 20 0 11 Progressive_familial_intrahepatic_cholestasis 131 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V0A2 condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 6 not_provided 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASPM mondo_mondo_0016660_medgen_c3711387_omim_ps251200_orphanet_2512 Autosomal recessive primary microcephaly MONDO:MONDO:0016660,MedGen:C3711387,OMIM:PS251200,Orphanet:2512 14 14 1.0000 condition_record_support_limited 20 0 8 Autosomal_recessive_primary_microcephaly 348 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture APOC2 mondo_mondo_0008810_medgen_c1720779_omim_207750_orphanet_309020_orphanet_444490 Familial apolipoprotein C-II deficiency MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750,Orphanet:309020,Orphanet:444490 14 14 1.0000 condition_record_support_limited 20 0 11 Familial_apolipoprotein_C-II_deficiency 18 low_record_burden_interpretation_limited low_record_burden_gene ANK3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 1 not_provided 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AMH condition_not_provided condition not provided MedGen:C3661900 14 14 1.0000 condition_record_support_limited 20 14 3 not_provided 30 compact_adjacent_exon_block_opportunity local_compact_architecture ALDH18A1 mondo_mondo_0009053_medgen_c5234852_omim_219150_orphanet_2962_orphanet_35664 ALDH18A1-related de Barsy syndrome MONDO:MONDO:0009053,MedGen:C5234852,OMIM:219150,Orphanet:2962,Orphanet:35664 14 14 1.0000 condition_record_support_limited 20 0 6 ALDH18A1-related_de_Barsy_syndrome 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTSL2 mondo_mondo_0009269_medgen_c3278147_omim_231050_orphanet_2623 Geleophysic dysplasia 1 MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623 14 14 1.0000 condition_record_support_limited 20 0 6 Geleophysic_dysplasia_1 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAM9 mondo_mondo_0013002_medgen_c1423873_omim_612775_orphanet_1872 Cone-rod dystrophy 9 MONDO:MONDO:0013002,MedGen:C1423873,OMIM:612775,Orphanet:1872 14 14 1.0000 condition_record_support_limited 20 0 3 Cone-rod_dystrophy_9 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTG2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 14 14 1.0000 condition_record_support_limited 20 14 10 not_provided 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA2 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 14 14 1.0000 condition_record_support_limited 20 0 14 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 mondo_mondo_0100164_medgen_c1833104_omim_ps606176_orphanet_99885 Permanent neonatal diabetes mellitus MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885 14 14 1.0000 condition_record_support_limited 20 0 14 Permanent_neonatal_diabetes_mellitus 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF699 mondo_mondo_0859181_medgen_c5561967_omim_619488 DEGCAGS syndrome MONDO:MONDO:0859181,MedGen:C5561967,OMIM:619488 13 13 1.0000 condition_record_support_limited 20 0 0 DEGCAGS_syndrome 14 low_record_burden_interpretation_limited low_record_burden_gene ZNF469 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 13 13 1.0000 condition_record_support_limited 20 0 8 Cardiovascular_phenotype 197 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZMYM2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 13 13 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WHRN mondo_mondo_0011767_medgen_c1846839_omim_607084_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 31 MONDO:MONDO:0011767,MedGen:C1846839,OMIM:607084,Orphanet:90636 13 13 1.0000 condition_record_support_limited 20 0 10 Autosomal_recessive_nonsyndromic_hearing_loss_31 55 compact_adjacent_exon_block_opportunity local_compact_architecture WFS1 human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 13 13 1.0000 condition_record_support_limited 20 0 11 Optic_atrophy 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VIPAS39 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 4 not_provided 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UCHL1 mondo_mondo_0859363_medgen_c5774300_omim_620221 Spastic paraplegia 79A, autosomal dominant, with ataxia MONDO:MONDO:0859363,MedGen:C5774300,OMIM:620221 13 13 1.0000 condition_record_support_limited 20 0 4 Spastic_paraplegia_79A,_autosomal_dominant,_with_ataxia 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBE2A mondo_mondo_0010461_medgen_c3275464_omim_300860_orphanet_163956 Syndromic X-linked intellectual disability Nascimento type MONDO:MONDO:0010461,MedGen:C3275464,OMIM:300860,Orphanet:163956 13 13 1.0000 condition_record_support_limited 20 0 2 Syndromic_X-linked_intellectual_disability_Nascimento_type 20 compact_adjacent_exon_block_opportunity local_compact_architecture TTN human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 13 13 1.0000 condition_record_support_limited 20 0 5 Tip-toe_gait 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN mondo_mondo_0100175_medgen_cn294812 TTN-related myopathy MONDO:MONDO:0100175,MedGen:CN294812 13 13 1.0000 condition_record_support_limited 20 0 10 TTN-related_myopathy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 Dilated cardiomyopathy 1A MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 13 13 1.0000 condition_record_support_limited 20 0 6 Dilated_cardiomyopathy_1A 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TSPEAR mondo_mondo_0859339_medgen_c5774277_omim_620173 Tooth agenesis, selective, 10 MONDO:MONDO:0859339,MedGen:C5774277,OMIM:620173 13 13 1.0000 condition_record_support_limited 20 0 10 Tooth_agenesis,_selective,_10 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN54 mondo_mondo_0012438_medgen_c1857762_omim_610204_orphanet_166068 Pontocerebellar hypoplasia type 5 MONDO:MONDO:0012438,MedGen:C1857762,OMIM:610204,Orphanet:166068 13 13 1.0000 condition_record_support_limited 20 0 11 Pontocerebellar_hypoplasia_type_5 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV6 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 2 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIO trio_related_disorder TRIO-related disorder . 13 13 1.0000 condition_record_support_limited 20 0 5 TRIO-related_disorder 175 large_gene_or_donor_burden_stress_case donor_burden_stress TRDN cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 13 13 1.0000 condition_record_support_limited 20 0 9 Cardiovascular_phenotype 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAF7 mondo_mondo_0032572_medgen_c4748484_omim_618164 Cardiac, facial, and digital anomalies with developmental delay MONDO:MONDO:0032572,MedGen:C4748484,OMIM:618164 13 13 1.0000 condition_record_support_limited 20 0 5 Cardiac,_facial,_and_digital_anomalies_with_developmental_delay 19 low_record_burden_interpretation_limited low_record_burden_gene TPP2 evans_syndrome_immunodeficiency_and_premature_immunosenescence_associated_with_tripeptidyl_peptidase_ii_deficiency Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency MedGen:CN231723 13 13 1.0000 condition_record_support_limited 20 0 0 Evans_syndrome,_immunodeficiency,_and_premature_immunosenescence_associated_with_tripeptidyl-peptidase_II_deficiency 19 low_record_burden_interpretation_limited low_record_burden_gene TP53 breast_and_or_ovarian_cancer Breast and/or ovarian cancer MedGen:CN221562 13 13 1.0000 condition_record_support_limited 20 0 12 Breast_and/or_ovarian_cancer 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TOE1 condition_not_provided condition not provided .|MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 4 See_cases|not_provided 38 compact_adjacent_exon_block_opportunity local_compact_architecture TNNT2 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 13 13 1.0000 condition_record_support_limited 20 0 12 Cardiomyopathy 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNI3 mondo_mondo_0007270_medgen_c1861861_omim_115210_orphanet_75249 Cardiomyopathy, familial restrictive, 1 MONDO:MONDO:0007270,MedGen:C1861861,OMIM:115210,Orphanet:75249 13 13 1.0000 condition_record_support_limited 20 0 10 Cardiomyopathy,_familial_restrictive,_1 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNFRSF9 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 1 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene TMEM147 mondo_mondo_0859298_medgen_c5774232_omim_620075_orphanet_698085 Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly MONDO:MONDO:0859298,MedGen:C5774232,OMIM:620075,Orphanet:698085 13 13 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_facial_dysmorphism,_absent_language,_and_pseudo-pelger-huet_anomaly 15 low_record_burden_interpretation_limited low_record_burden_gene TMEM126B condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 6 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene TMEM107 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 7 not_provided 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMC1 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 13 13 1.0000 condition_record_support_limited 20 0 11 Rare_genetic_deafness 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture THAP1 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 10 not_provided 46 compact_adjacent_exon_block_opportunity local_compact_architecture TGFBR2 mondo_mondo_0018954_medgen_c2697932_omim_ps609192_orphanet_60030 Loeys-Dietz syndrome MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030 13 13 1.0000 condition_record_support_limited 20 0 11 Loeys-Dietz_syndrome 130 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TG human_phenotype_ontology_hp_0000851_mondo_mondo_0018612_medgen_c0010308_orphanet_442 Congenital hypothyroidism Human_Phenotype_Ontology:HP:0000851,MONDO:MONDO:0018612,MedGen:C0010308,Orphanet:442 13 13 1.0000 condition_record_support_limited 20 0 10 Congenital_hypothyroidism 241 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TET3 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 1 not_provided 52 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCIRG1 human_phenotype_ontology_hp_0011002_mondo_mondo_0017198_medgen_c0029454_orphanet_2781 Osteopetrosis Human_Phenotype_Ontology:HP:0011002,MONDO:MONDO:0017198,MedGen:C0029454,Orphanet:2781 13 13 1.0000 condition_record_support_limited 20 0 12 Osteopetrosis 279 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TANC2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 0 not_provided 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TALDO1 mondo_mondo_0011624_medgen_c1291329_omim_606003_orphanet_101028 Deficiency of transaldolase MONDO:MONDO:0011624,MedGen:C1291329,OMIM:606003,Orphanet:101028 13 13 1.0000 condition_record_support_limited 20 0 5 Deficiency_of_transaldolase 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 13 13 1.0000 condition_record_support_limited 20 0 8 Intellectual_disability 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STRC strc_related_disorder STRC-related disorder . 13 13 1.0000 condition_record_support_limited 20 0 9 STRC-related_disorder 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture STAG3 mondo_mondo_0014321_medgen_c3810367_omim_615723 Premature ovarian failure 8 MONDO:MONDO:0014321,MedGen:C3810367,OMIM:615723 13 13 1.0000 condition_record_support_limited 20 0 2 Premature_ovarian_failure_8 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPAG8 mondo_mondo_0011275_medgen_c1864356_omim_602875_orphanet_40 Acromesomelic dysplasia 1, Maroteaux type MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875,Orphanet:40 13 13 1.0000 condition_record_support_limited 20 0 11 Acromesomelic_dysplasia_1,_Maroteaux_type 16 low_record_burden_interpretation_limited low_record_burden_gene SMPD1 smpd1_related_disorder SMPD1-related disorder . 13 13 1.0000 condition_record_support_limited 20 0 13 SMPD1-related_disorder 386 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCB1 mondo_mondo_0012252_medgen_c1836327_omim_609322_orphanet_231108_orphanet_69077 Rhabdoid tumor predisposition syndrome 1 MONDO:MONDO:0012252,MedGen:C1836327,OMIM:609322,Orphanet:231108,Orphanet:69077 13 13 1.0000 condition_record_support_limited 20 0 7 Rhabdoid_tumor_predisposition_syndrome_1 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCAL1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 9 See_cases|not_provided 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC4A4 mondo_mondo_0011422_medgen_c1970309_omim_604278_orphanet_93607 Autosomal recessive proximal renal tubular acidosis MONDO:MONDO:0011422,MedGen:C1970309,OMIM:604278,Orphanet:93607 13 13 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_proximal_renal_tubular_acidosis 17 low_record_burden_interpretation_limited low_record_burden_gene SLC2A1 mondo_mondo_0012143_medgen_c1837206_omim_608885_orphanet_168577 Hereditary cryohydrocytosis with reduced stomatin MONDO:MONDO:0012143,MedGen:C1837206,OMIM:608885,Orphanet:168577 13 13 1.0000 condition_record_support_limited 20 0 12 Hereditary_cryohydrocytosis_with_reduced_stomatin 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A46 mondo_mondo_0030260_medgen_c5543328_omim_619303 Pontocerebellar hypoplasia, type 1E MONDO:MONDO:0030260,MedGen:C5543328,OMIM:619303 13 13 1.0000 condition_record_support_limited 20 0 8 Pontocerebellar_hypoplasia,_type_1E 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 6 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC22A12 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 8 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 13 13 1.0000 condition_record_support_limited 20 0 13 Inborn_genetic_diseases 453 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCB mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 Autosomal recessive limb-girdle muscular dystrophy MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 13 13 1.0000 condition_record_support_limited 20 0 12 Autosomal_recessive_limb-girdle_muscular_dystrophy 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SFTPC mondo_mondo_0024465_medgen_c1970470_omim_610913 Surfactant metabolism dysfunction, pulmonary, 2 MONDO:MONDO:0024465,MedGen:C1970470,OMIM:610913 13 13 1.0000 condition_record_support_limited 20 0 4 Surfactant_metabolism_dysfunction,_pulmonary,_2 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHB inherited_phaeochromocytoma_and_paraganglioma_excluding_nf1 Inherited phaeochromocytoma and paraganglioma excluding NF1 . 13 13 1.0000 condition_record_support_limited 20 0 10 Inherited_phaeochromocytoma_and_paraganglioma_excluding_NF1 280 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SCN5A brugada_syndrome_shorter_than_normal_qt_interval Brugada syndrome (shorter-than-normal QT interval) . 13 13 1.0000 condition_record_support_limited 20 0 11 Brugada_syndrome_(shorter-than-normal_QT_interval) 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCARF2 mondo_mondo_0010959_medgen_c1833136_omim_600920_orphanet_2460 Van den Ende-Gupta syndrome MONDO:MONDO:0010959,MedGen:C1833136,OMIM:600920,Orphanet:2460 13 13 1.0000 condition_record_support_limited 20 0 2 Van_den_Ende-Gupta_syndrome 13 low_record_burden_interpretation_limited low_record_burden_gene RUNX1 human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 13 13 1.0000 condition_record_support_limited 20 0 13 Thrombocytopenia 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RUNX1 human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Acute myeloid leukemia Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 13 13 1.0000 condition_record_support_limited 20 0 13 Acute_myeloid_leukemia 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RRM2B rrm2b_related_mitochondrial_disease RRM2B-related mitochondrial disease MedGen:CN187502 13 13 1.0000 condition_record_support_limited 20 0 13 RRM2B-related_mitochondrial_disease 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL11 mondo_mondo_0012938_medgen_c2675512_omim_612562_orphanet_124 Diamond-Blackfan anemia 7 MONDO:MONDO:0012938,MedGen:C2675512,OMIM:612562,Orphanet:124 13 13 1.0000 condition_record_support_limited 20 0 8 Diamond-Blackfan_anemia_7 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGR medgen_c2749137_omim_300455_orphanet_247522 Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness MedGen:C2749137,OMIM:300455,Orphanet:247522 13 13 1.0000 condition_record_support_limited 20 0 12 Retinitis_pigmentosa,_X-linked,_and_sinorespiratory_infections,_with_or_without_deafness 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RFX6 mondo_mondo_0017400_medgen_c2748662_omim_615710_orphanet_293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome MONDO:MONDO:0017400,MedGen:C2748662,OMIM:615710,Orphanet:293864 13 13 1.0000 condition_record_support_limited 20 0 5 Hypoplastic_pancreas-intestinal_atresia-hypoplastic_gallbalder_syndrome 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture REST condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 1 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RD3 mondo_mondo_0012525_medgen_c1857743_omim_610612_orphanet_65 Leber congenital amaurosis 12 MONDO:MONDO:0012525,MedGen:C1857743,OMIM:610612,Orphanet:65 13 13 1.0000 condition_record_support_limited 20 0 3 Leber_congenital_amaurosis_12 14 low_record_burden_interpretation_limited low_record_burden_gene RASGRP2 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 2 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RARS1 mondo_mondo_0014506_medgen_c4015323_omim_616140_orphanet_438114 Hypomyelinating leukodystrophy 9 MONDO:MONDO:0014506,MedGen:C4015323,OMIM:616140,Orphanet:438114 13 13 1.0000 condition_record_support_limited 20 0 6 Hypomyelinating_leukodystrophy_9 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAG2 human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 13 13 1.0000 condition_record_support_limited 20 0 12 Severe_combined_immunodeficiency_disease 147 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD51C rad51c_related_disorder RAD51C-related disorder . 13 13 1.0000 condition_record_support_limited 20 0 13 RAD51C-related_disorder 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAC1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 8 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP2 condition_not_provided condition not provided .|MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 2 See_cases|not_provided 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYCR2 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 8 not_provided 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTEN mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 Familial prostate cancer MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 13 13 1.0000 condition_record_support_limited 20 0 13 Familial_prostate_cancer 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTCHD1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 0 not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTCH1 ptch1_related_disorder PTCH1-related disorder . 13 13 1.0000 condition_record_support_limited 20 0 6 PTCH1-related_disorder 736 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRUNE1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 7 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRNP mondo_mondo_0011299_medgen_c1864112_omim_603218_orphanet_157941 Huntington disease-like 1 MONDO:MONDO:0011299,MedGen:C1864112,OMIM:603218,Orphanet:157941 13 13 1.0000 condition_record_support_limited 20 0 11 Huntington_disease-like_1 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAR1B human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 13 13 1.0000 condition_record_support_limited 20 0 0 Primary_ciliary_dyskinesia 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRDM12 mondo_mondo_0014662_medgen_c4225308_omim_616488_orphanet_478664 Congenital insensitivity to pain-hypohidrosis syndrome MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488,Orphanet:478664 13 13 1.0000 condition_record_support_limited 20 0 0 Congenital_insensitivity_to_pain-hypohidrosis_syndrome 16 low_record_burden_interpretation_limited low_record_burden_gene PPP2R1A condition_not_provided condition not provided .|MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 10 See_cases|not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POU4F3 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 4 not_provided 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3A mondo_mondo_0700276_medgen_cn378587 POLR3A-related disorder MONDO:MONDO:0700276,MedGen:CN378587 13 13 1.0000 condition_record_support_limited 20 0 9 POLR3A-related_disorder 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG mondo_mondo_0011283_medgen_c4551995_omim_603041_orphanet_298 Mitochondrial DNA depletion syndrome 1 MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041,Orphanet:298 13 13 1.0000 condition_record_support_limited 20 0 13 Mitochondrial_DNA_depletion_syndrome_1 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POC1B mondo_mondo_0014427_medgen_c4014856_omim_615973_orphanet_1872 Cone-rod dystrophy 20 MONDO:MONDO:0014427,MedGen:C4014856,OMIM:615973,Orphanet:1872 13 13 1.0000 condition_record_support_limited 20 0 7 Cone-rod_dystrophy_20 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPO condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 12 not_provided 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA1 human_phenotype_ontology_hp_0007431_human_phenotype_ontology_hp_0007478_human_phenotype_ontology_hp_0007484_medgen_c0079583 Congenital ichthyosiform erythroderma Human_Phenotype_Ontology:HP:0007431,Human_Phenotype_Ontology:HP:0007478,Human_Phenotype_Ontology:HP:0007484,MedGen:C0079583 13 13 1.0000 condition_record_support_limited 20 0 10 Congenital_ichthyosiform_erythroderma 48 compact_adjacent_exon_block_opportunity local_compact_architecture PMP22 mondo_mondo_0007790_medgen_c0011195_omim_145900_orphanet_64748 Dejerine-Sottas disease MONDO:MONDO:0007790,MedGen:C0011195,OMIM:145900,Orphanet:64748 13 13 1.0000 condition_record_support_limited 20 0 11 Dejerine-Sottas_disease 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLG condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 2 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLG mondo_mondo_0009009_medgen_c1968804_omim_217090_orphanet_722 Plasminogen deficiency, type I MONDO:MONDO:0009009,MedGen:C1968804,OMIM:217090,Orphanet:722 13 13 1.0000 condition_record_support_limited 20 0 6 Plasminogen_deficiency,_type_I 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLD1 mondo_mondo_0008913_medgen_c5774175_omim_212093 Cardiac valvular defect, developmental MONDO:MONDO:0008913,MedGen:C5774175,OMIM:212093 13 13 1.0000 condition_record_support_limited 20 0 2 Cardiac_valvular_defect,_developmental 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD1 human_phenotype_ontology_hp_0000088_human_phenotype_ontology_hp_0000107_human_phenotype_ontology_hp_0000109_mondo_mondo_0002473_medgen_c3887499 Renal cyst Human_Phenotype_Ontology:HP:0000088,Human_Phenotype_Ontology:HP:0000107,Human_Phenotype_Ontology:HP:0000109,MONDO:MONDO:0002473,MedGen:C3887499 13 13 1.0000 condition_record_support_limited 20 0 10 Renal_cyst 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PIK3CA mondo_mondo_0014047_medgen_c3554518_omim_615108_orphanet_201 Cowden syndrome 5 MONDO:MONDO:0014047,MedGen:C3554518,OMIM:615108,Orphanet:201 13 13 1.0000 condition_record_support_limited 20 0 8 Cowden_syndrome_5 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIEZO2 mondo_mondo_0007252_medgen_c0220666_omim_114300_orphanet_376 Gordon syndrome MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300,Orphanet:376 13 13 1.0000 condition_record_support_limited 20 0 8 Gordon_syndrome 134 large_gene_or_donor_burden_stress_case donor_burden_stress PHOX2B mondo_mondo_0020493_medgen_c1859049_orphanet_99803 Haddad syndrome MONDO:MONDO:0020493,MedGen:C1859049,Orphanet:99803 13 13 1.0000 condition_record_support_limited 20 0 8 Haddad_syndrome 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHOX2B mondo_mondo_0800026_medgen_c5562075_omim_209880_orphanet_661 Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:MONDO:0800026,MedGen:C5562075,OMIM:209880,Orphanet:661 13 13 1.0000 condition_record_support_limited 20 0 8 Central_hypoventilation_syndrome,_congenital,_1,_with_or_without_Hirschsprung_disease 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PGK1 mondo_mondo_0010392_medgen_c1970848_omim_300653_orphanet_713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency MONDO:MONDO:0010392,MedGen:C1970848,OMIM:300653,Orphanet:713 13 13 1.0000 condition_record_support_limited 20 0 2 Glycogen_storage_disease_due_to_phosphoglycerate_kinase_1_deficiency 17 low_record_burden_interpretation_limited low_record_burden_gene PGAP2 mondo_mondo_0013628_medgen_c3280153_omim_614207_orphanet_247262 Hyperphosphatasia with intellectual disability syndrome 3 MONDO:MONDO:0013628,MedGen:C3280153,OMIM:614207,Orphanet:247262 13 13 1.0000 condition_record_support_limited 20 0 2 Hyperphosphatasia_with_intellectual_disability_syndrome_3 15 low_record_burden_interpretation_limited low_record_burden_gene PEX12 mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 Peroxisome biogenesis disorder MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 13 13 1.0000 condition_record_support_limited 20 0 12 Peroxisome_biogenesis_disorder 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDHA1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 13 13 1.0000 condition_record_support_limited 20 0 9 Inborn_genetic_diseases 395 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6C mondo_mondo_0800196_medgen_c2751309 Achromatopsia 5 MONDO:MONDO:0800196,MedGen:C2751309 13 13 1.0000 condition_record_support_limited 20 0 3 Achromatopsia_5 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCSK9 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 13 13 1.0000 condition_record_support_limited 20 0 5 Hypercholesterolemia,_familial,_1 18 low_record_burden_interpretation_limited low_record_burden_gene PCDH19 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 13 13 1.0000 condition_record_support_limited 20 0 5 Seizure 433 compact_adjacent_exon_block_opportunity local_compact_architecture PAX3 mondo_mondo_0007862_medgen_c0079661_omim_148820_orphanet_3440_orphanet_896 Waardenburg syndrome type 3 MONDO:MONDO:0007862,MedGen:C0079661,OMIM:148820,Orphanet:3440,Orphanet:896 13 13 1.0000 condition_record_support_limited 20 0 8 Waardenburg_syndrome_type_3 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PATL2 mondo_mondo_0021575_medgen_c4540284_omim_617743 Oocyte maturation defect 4 MONDO:MONDO:0021575,MedGen:C4540284,OMIM:617743 13 13 1.0000 condition_record_support_limited 20 0 1 Oocyte_maturation_defect_4 14 low_record_burden_interpretation_limited low_record_burden_gene PAK3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 5 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OFD1 mondo_mondo_0019667_medgen_cn033239_orphanet_93284 Spondyloepiphyseal dysplasia tarda MONDO:MONDO:0019667,MedGen:CN033239,Orphanet:93284 13 13 1.0000 condition_record_support_limited 20 0 5 Spondyloepiphyseal_dysplasia_tarda 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OFD1 mondo_mondo_0010265_medgen_c1846175_omim_300209_orphanet_79022 Simpson-Golabi-Behmel syndrome type 2 MONDO:MONDO:0010265,MedGen:C1846175,OMIM:300209,Orphanet:79022 13 13 1.0000 condition_record_support_limited 20 0 9 Simpson-Golabi-Behmel_syndrome_type_2 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OAT human_phenotype_ontology_hp_0012026_medgen_c0599035 Hyperornithinemia Human_Phenotype_Ontology:HP:0012026,MedGen:C0599035 13 13 1.0000 condition_record_support_limited 20 0 12 Hyperornithinemia 150 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NUP188 mondo_mondo_0032926_medgen_c5394118_omim_618804 Sandestig-stefanova syndrome MONDO:MONDO:0032926,MedGen:C5394118,OMIM:618804 13 13 1.0000 condition_record_support_limited 20 0 5 Sandestig-stefanova_syndrome 18 low_record_burden_interpretation_limited low_record_burden_gene NODAL mondo_mondo_0700112_medgen_c3495537_omim_270100_orphanet_450 Heterotaxy, visceral, 5, autosomal MONDO:MONDO:0700112,MedGen:C3495537,OMIM:270100,Orphanet:450 13 13 1.0000 condition_record_support_limited 20 0 2 Heterotaxy,_visceral,_5,_autosomal 16 low_record_burden_interpretation_limited low_record_burden_gene NIPBL mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 13 13 1.0000 condition_record_support_limited 20 0 8 Inborn_genetic_diseases 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NFIA mondo_mondo_0013396_medgen_c4707828_orphanet_401986 Chromosome 1p32-p31 deletion syndrome MONDO:MONDO:0013396,MedGen:C4707828,Orphanet:401986 13 13 1.0000 condition_record_support_limited 20 0 4 Chromosome_1p32-p31_deletion_syndrome 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEK1 mondo_mondo_0054750_medgen_c4693523_omim_617892 Amyotrophic lateral sclerosis, susceptibility to, 24 MONDO:MONDO:0054750,MedGen:C4693523,OMIM:617892 13 13 1.0000 condition_record_support_limited 20 0 6 Amyotrophic_lateral_sclerosis,_susceptibility_to,_24 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFV2 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 4 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene NDUFS4 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 13 13 1.0000 condition_record_support_limited 20 0 9 Leigh_syndrome 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDP human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 13 13 1.0000 condition_record_support_limited 20 0 9 Retinal_dystrophy 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCF2 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 9 not_provided 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NBEAL2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 3 not_provided 72 large_gene_or_donor_burden_stress_case donor_burden_stress MYH3 mondo_mondo_0020746_medgen_c5193114_omim_618469 Contractures, pterygia, and variable skeletal fusions syndrome 1B MONDO:MONDO:0020746,MedGen:C5193114,OMIM:618469 13 13 1.0000 condition_record_support_limited 20 0 6 Contractures,_pterygia,_and_variable_skeletal_fusions_syndrome_1B 124 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 8 not_provided 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH11 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 3 not_provided 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MTRFR mondo_mondo_0013306_medgen_c3150801_omim_613559_orphanet_254930 Combined oxidative phosphorylation defect type 7 MONDO:MONDO:0013306,MedGen:C3150801,OMIM:613559,Orphanet:254930 13 13 1.0000 condition_record_support_limited 20 0 13 Combined_oxidative_phosphorylation_defect_type_7 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTOR human_phenotype_ontology_hp_0032051_mondo_mondo_0011818_medgen_c1846385_omim_607341_orphanet_268994 Isolated focal cortical dysplasia type II Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994 13 13 1.0000 condition_record_support_limited 20 0 7 Isolated_focal_cortical_dysplasia_type_II 52 large_gene_or_donor_burden_stress_case donor_burden_stress MPZL2 mondo_mondo_0029142_medgen_c4748374_omim_618145 Hearing loss, autosomal recessive 111 MONDO:MONDO:0029142,MedGen:C4748374,OMIM:618145 13 13 1.0000 condition_record_support_limited 20 0 2 Hearing_loss,_autosomal_recessive_111 16 low_record_burden_interpretation_limited low_record_burden_gene MPZ mondo_mondo_0011903_medgen_c1843153_omim_607736_orphanet_99943 Charcot-Marie-Tooth disease type 2J MONDO:MONDO:0011903,MedGen:C1843153,OMIM:607736,Orphanet:99943 13 13 1.0000 condition_record_support_limited 20 0 12 Charcot-Marie-Tooth_disease_type_2J 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPZ mondo_mondo_0011889_medgen_c3888087_omim_607677_orphanet_99942 Charcot-Marie-Tooth disease type 2I MONDO:MONDO:0011889,MedGen:C3888087,OMIM:607677,Orphanet:99942 13 13 1.0000 condition_record_support_limited 20 0 13 Charcot-Marie-Tooth_disease_type_2I 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MORC2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 10 not_provided 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MLH3 mondo_mondo_0013725_medgen_c1858380_omim_614385_orphanet_144 Colorectal cancer, hereditary nonpolyposis, type 7 MONDO:MONDO:0013725,MedGen:C1858380,OMIM:614385,Orphanet:144 13 13 1.0000 condition_record_support_limited 20 0 2 Colorectal_cancer,_hereditary_nonpolyposis,_type_7 18 low_record_burden_interpretation_limited low_record_burden_gene MLH1 mlh1_related_disorder MLH1-related disorder . 13 13 1.0000 condition_record_support_limited 20 0 12 MLH1-related_disorder 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MKKS mkks_related_disorder MKKS-related disorder . 13 13 1.0000 condition_record_support_limited 20 0 9 MKKS-related_disorder 124 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MIB1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 1 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFRP mondo_mondo_0012299_medgen_c1836006_omim_609549_orphanet_35612 Nanophthalmos 2 MONDO:MONDO:0012299,MedGen:C1836006,OMIM:609549,Orphanet:35612 13 13 1.0000 condition_record_support_limited 20 0 10 Nanophthalmos_2 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEGF10 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 4 not_provided 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEF2C mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 13 13 1.0000 condition_record_support_limited 20 0 7 Inborn_genetic_diseases 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED23 mondo_mondo_0013651_medgen_c3280265_omim_614249_orphanet_88616 Intellectual disability, autosomal recessive 18 MONDO:MONDO:0013651,MedGen:C3280265,OMIM:614249,Orphanet:88616 13 13 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability,_autosomal_recessive_18 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED13L med13l_related_disorder MED13L-related disorder . 13 13 1.0000 condition_record_support_limited 20 0 6 MED13L-related_disorder 284 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 13 13 1.0000 condition_record_support_limited 20 0 12 Intellectual_disability 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MC4R mondo_mondo_0019115_medgen_c4273958_orphanet_71529 Obesity due to melanocortin 4 receptor deficiency MONDO:MONDO:0019115,MedGen:C4273958,Orphanet:71529 13 13 1.0000 condition_record_support_limited 20 0 11 Obesity_due_to_melanocortin_4_receptor_deficiency 59 single_exon_hotspot_opportunity local_compact_architecture MAST1 mondo_mondo_0032648_medgen_c4748927_omim_618273 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations MONDO:MONDO:0032648,MedGen:C4748927,OMIM:618273 13 13 1.0000 condition_record_support_limited 20 0 3 Mega-corpus-callosum_syndrome_with_cerebellar_hypoplasia_and_cortical_malformations 15 low_record_burden_interpretation_limited low_record_burden_gene MAP2K2 mondo_mondo_0014114_medgen_c3809007_omim_615280_orphanet_1340 Cardiofaciocutaneous syndrome 4 MONDO:MONDO:0014114,MedGen:C3809007,OMIM:615280,Orphanet:1340 13 13 1.0000 condition_record_support_limited 20 0 10 Cardiofaciocutaneous_syndrome_4 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAFB mondo_mondo_0008152_medgen_c2674705_omim_166300_orphanet_2774 Multicentric carpo-tarsal osteolysis with or without nephropathy MONDO:MONDO:0008152,MedGen:C2674705,OMIM:166300,Orphanet:2774 13 13 1.0000 condition_record_support_limited 20 0 4 Multicentric_carpo-tarsal_osteolysis_with_or_without_nephropathy 24 single_exon_hotspot_opportunity local_compact_architecture MADD mondo_mondo_0033561_medgen_c5436579_omim_619004_orphanet_686495 Deeah syndrome MONDO:MONDO:0033561,MedGen:C5436579,OMIM:619004,Orphanet:686495 13 13 1.0000 condition_record_support_limited 20 0 5 Deeah_syndrome 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMNA lmna_related_disorder LMNA-related disorder MedGen:CN380145 13 13 1.0000 condition_record_support_limited 20 0 11 LMNA-related_disorder 536 compact_adjacent_exon_block_opportunity local_compact_architecture LIG4 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 13 13 1.0000 condition_record_support_limited 20 0 13 Multiple_myeloma 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LDHA mondo_mondo_0013047_medgen_c2931743_omim_612933_orphanet_284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency MONDO:MONDO:0013047,MedGen:C2931743,OMIM:612933,Orphanet:284426 13 13 1.0000 condition_record_support_limited 20 0 0 Glycogen_storage_disease_due_to_lactate_dehydrogenase_M-subunit_deficiency 13 low_record_burden_interpretation_limited low_record_burden_gene LCT mondo_mondo_0009115_medgen_c0268179_omim_223000_orphanet_53690 Congenital lactase deficiency MONDO:MONDO:0009115,MedGen:C0268179,OMIM:223000,Orphanet:53690 13 13 1.0000 condition_record_support_limited 20 0 4 Congenital_lactase_deficiency 49 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LAMA2 lama2_related_disorder LAMA2-related disorder . 13 13 1.0000 condition_record_support_limited 20 0 9 LAMA2-related_disorder 953 large_gene_or_donor_burden_stress_case donor_burden_stress KRT9 mondo_mondo_0007758_medgen_cn377798_omim_144200_orphanet_2199 Epidermolytic palmoplantar keratoderma, 1 MONDO:MONDO:0007758,MedGen:CN377798,OMIM:144200,Orphanet:2199 13 13 1.0000 condition_record_support_limited 20 0 13 Epidermolytic_palmoplantar_keratoderma,_1 18 low_record_burden_interpretation_limited low_record_burden_gene KRT17 mondo_mondo_0008174_medgen_c1721007_omim_167210_orphanet_2309 Pachyonychia congenita 2 MONDO:MONDO:0008174,MedGen:C1721007,OMIM:167210,Orphanet:2309 13 13 1.0000 condition_record_support_limited 20 0 13 Pachyonychia_congenita_2 18 low_record_burden_interpretation_limited low_record_burden_gene KRT14 mondo_mondo_0010976_medgen_c3715082_omim_601001_orphanet_89838 Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MONDO:MONDO:0010976,MedGen:C3715082,OMIM:601001,Orphanet:89838 13 13 1.0000 condition_record_support_limited 20 0 10 Epidermolysis_bullosa_simplex_1D,_generalized,_intermediate_or_severe,_autosomal_recessive 76 compact_adjacent_exon_block_opportunity local_compact_architecture KIF1C condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 5 not_provided 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF14 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 2 not_provided 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ11 mondo_mondo_0030087_medgen_c5394296_omim_618856 Diabetes mellitus, permanent neonatal 2 MONDO:MONDO:0030087,MedGen:C5394296,OMIM:618856 13 13 1.0000 condition_record_support_limited 20 0 12 Diabetes_mellitus,_permanent_neonatal_2 72 single_exon_hotspot_opportunity local_compact_architecture KCNA3 kcna3_associated_developmental_and_epileptic_encephalopathy KCNA3-associated developmental and epileptic encephalopathy . 13 13 1.0000 condition_record_support_limited 20 0 3 KCNA3-associated_developmental_and_epileptic_encephalopathy 16 low_record_burden_interpretation_limited low_record_burden_gene JAM3 mondo_mondo_0013394_medgen_c3151000_omim_613730_orphanet_306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome MONDO:MONDO:0013394,MedGen:C3151000,OMIM:613730,Orphanet:306547 13 13 1.0000 condition_record_support_limited 20 0 2 Porencephaly-microcephaly-bilateral_congenital_cataract_syndrome 16 low_record_burden_interpretation_limited low_record_burden_gene ITSN1 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 2 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA2B mondo_mondo_0008552_medgen_c5442010_omim_187800_orphanet_140957 Platelet-type bleeding disorder 16 MONDO:MONDO:0008552,MedGen:C5442010,OMIM:187800,Orphanet:140957 13 13 1.0000 condition_record_support_limited 20 0 13 Platelet-type_bleeding_disorder_16 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IRF6 mondo_mondo_1040010_medgen_cn378148 IRF6-related condition MONDO:MONDO:1040010,MedGen:CN378148 13 13 1.0000 condition_record_support_limited 20 0 8 IRF6-related_condition 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IQCB1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 11 not_provided 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INVS condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 11 not_provided 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INPP5E mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 13 13 1.0000 condition_record_support_limited 20 0 9 Joubert_syndrome_and_related_disorders 79 compact_adjacent_exon_block_opportunity local_compact_architecture INPP5E inpp5e_related_disorder INPP5E-related disorder . 13 13 1.0000 condition_record_support_limited 20 0 11 INPP5E-related_disorder 79 compact_adjacent_exon_block_opportunity local_compact_architecture ILDR1 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 5 not_provided 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 13 13 1.0000 condition_record_support_limited 20 0 13 Inborn_genetic_diseases 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 13 13 1.0000 condition_record_support_limited 20 0 12 Charcot-Marie-Tooth_disease 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSD3B7 mondo_mondo_0011906_medgen_c1843116_omim_607765_orphanet_79301 Congenital bile acid synthesis defect 1 MONDO:MONDO:0011906,MedGen:C1843116,OMIM:607765,Orphanet:79301 13 13 1.0000 condition_record_support_limited 20 0 6 Congenital_bile_acid_synthesis_defect_1 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPDL condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 6 not_provided 48 single_exon_hotspot_opportunity local_compact_architecture HNF1B hnf1b_related_disorder HNF1B-related disorder . 13 13 1.0000 condition_record_support_limited 20 0 7 HNF1B-related_disorder 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HIBCH condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 11 See_cases|not_provided 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEXA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 13 13 1.0000 condition_record_support_limited 20 0 13 Inborn_genetic_diseases 331 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HESX1 human_phenotype_ontology_hp_0100842_mondo_mondo_0008428_medgen_c0338503_omim_182230_orphanet_3157 Septo-optic dysplasia sequence Human_Phenotype_Ontology:HP:0100842,MONDO:MONDO:0008428,MedGen:C0338503,OMIM:182230,Orphanet:3157 13 13 1.0000 condition_record_support_limited 20 0 10 Septo-optic_dysplasia_sequence 21 compact_adjacent_exon_block_opportunity local_compact_architecture HERC1 mondo_mondo_0014863_medgen_c4310766_omim_617011_orphanet_457359 Macrocephaly, dysmorphic facies, and psychomotor retardation MONDO:MONDO:0014863,MedGen:C4310766,OMIM:617011,Orphanet:457359 13 13 1.0000 condition_record_support_limited 20 0 2 Macrocephaly,_dysmorphic_facies,_and_psychomotor_retardation 50 large_gene_or_donor_burden_stress_case donor_burden_stress HCN4 mondo_mondo_0013148_medgen_c2751083_omim_613123_orphanet_130 Brugada syndrome 8 MONDO:MONDO:0013148,MedGen:C2751083,OMIM:613123,Orphanet:130 13 13 1.0000 condition_record_support_limited 20 0 7 Brugada_syndrome_8 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRHL2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 2 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPNMB mondo_mondo_0054765_medgen_c4554421_omim_617920 Amyloidosis, primary localized cutaneous, 3 MONDO:MONDO:0054765,MedGen:C4554421,OMIM:617920 13 13 1.0000 condition_record_support_limited 20 0 1 Amyloidosis,_primary_localized_cutaneous,_3 15 low_record_burden_interpretation_limited low_record_burden_gene GPD1 mondo_mondo_0013771_medgen_c3280953_omim_614480_orphanet_300293 Transient infantile hypertriglyceridemia and hepatosteatosis MONDO:MONDO:0013771,MedGen:C3280953,OMIM:614480,Orphanet:300293 13 13 1.0000 condition_record_support_limited 20 0 0 Transient_infantile_hypertriglyceridemia_and_hepatosteatosis 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNS mondo_mondo_0018937_medgen_c0026706_orphanet_581 Sanfilippo syndrome MONDO:MONDO:0018937,MedGen:C0026706,Orphanet:581 13 13 1.0000 condition_record_support_limited 20 0 8 Sanfilippo_syndrome 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCM2 mondo_mondo_0020798_medgen_c5394383_omim_618883 Hypoparathyroidism, familial isolated, 2 MONDO:MONDO:0020798,MedGen:C5394383,OMIM:618883 13 13 1.0000 condition_record_support_limited 20 0 7 Hypoparathyroidism,_familial_isolated,_2 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBE1 gbe1_related_disorder GBE1-related disorder MedGen:CN239402 13 13 1.0000 condition_record_support_limited 20 0 12 GBE1-related_disorder 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA1 mondo_mondo_0010308_medgen_c3550789_omim_300367_orphanet_67044 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia MONDO:MONDO:0010308,MedGen:C3550789,OMIM:300367,Orphanet:67044 13 13 1.0000 condition_record_support_limited 20 0 11 Thrombocytopenia,_X-linked,_with_or_without_dyserythropoietic_anemia 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALT galt_related_disorder GALT-related disorder . 13 13 1.0000 condition_record_support_limited 20 0 12 GALT-related_disorder 333 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRA2 mondo_mondo_0032812_medgen_c5231409_omim_618557 Developmental and epileptic encephalopathy, 78 MONDO:MONDO:0032812,MedGen:C5231409,OMIM:618557 13 13 1.0000 condition_record_support_limited 20 0 3 Developmental_and_epileptic_encephalopathy,_78 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAA mondo_mondo_0018485_medgen_c0342753_omim_621314_orphanet_420429 Glycogen storage disease due to acid maltase deficiency, late-onset MONDO:MONDO:0018485,MedGen:C0342753,OMIM:621314,Orphanet:420429 13 13 1.0000 condition_record_support_limited 20 0 13 Glycogen_storage_disease_due_to_acid_maltase_deficiency,_late-onset 739 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 6 not_provided 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXF1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 3 See_cases|not_provided 66 compact_adjacent_exon_block_opportunity local_compact_architecture FLCN flcn_related_disorder FLCN-related disorder . 13 13 1.0000 condition_record_support_limited 20 0 11 FLCN-related_disorder 425 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FGFR3 mondo_mondo_0014658_medgen_c2674173_omim_616482_orphanet_85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:MONDO:0014658,MedGen:C2674173,OMIM:616482,Orphanet:85165 13 13 1.0000 condition_record_support_limited 20 0 13 Severe_achondroplasia-developmental_delay-acanthosis_nigricans_syndrome 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 mondo_mondo_0012307_medgen_c1865070_omim_609579_orphanet_168624 Familial scaphocephaly syndrome, McGillivray type MONDO:MONDO:0012307,MedGen:C1865070,OMIM:609579,Orphanet:168624 13 13 1.0000 condition_record_support_limited 20 0 13 Familial_scaphocephaly_syndrome,_McGillivray_type 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 mondo_mondo_0013815_medgen_c3281247_omim_614592_orphanet_313855 Bent bone dysplasia syndrome 1 MONDO:MONDO:0013815,MedGen:C3281247,OMIM:614592,Orphanet:313855 13 13 1.0000 condition_record_support_limited 20 0 13 Bent_bone_dysplasia_syndrome_1 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FCHO1 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 0 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXW7 mondo_mondo_0859280_medgen_c5774202_omim_620012 Developmental delay, hypotonia, and impaired language MONDO:MONDO:0859280,MedGen:C5774202,OMIM:620012 13 13 1.0000 condition_record_support_limited 20 0 4 Developmental_delay,_hypotonia,_and_impaired_language 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAT4 mondo_mondo_0014454_medgen_c4014939_omim_616006_orphanet_2136 Hennekam lymphangiectasia-lymphedema syndrome 2 MONDO:MONDO:0014454,MedGen:C4014939,OMIM:616006,Orphanet:2136 13 13 1.0000 condition_record_support_limited 20 0 9 Hennekam_lymphangiectasia-lymphedema_syndrome_2 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FAM20A condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 6 not_provided 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F9 medgen_c5393318_omim_301052 Warfarin sensitivity, X-linked MedGen:C5393318,OMIM:301052 13 13 1.0000 condition_record_support_limited 20 0 12 Warfarin_sensitivity,_X-linked 299 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXT2 mondo_mondo_0014731_medgen_c4225248_omim_616682_orphanet_466926 Seizures-scoliosis-macrocephaly syndrome MONDO:MONDO:0014731,MedGen:C4225248,OMIM:616682,Orphanet:466926 13 13 1.0000 condition_record_support_limited 20 0 11 Seizures-scoliosis-macrocephaly_syndrome 221 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERLIN2 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 13 13 1.0000 condition_record_support_limited 20 0 3 Spastic_paraplegia 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC5 mondo_mondo_0019600_medgen_c0043346_orphanet_910 Xeroderma pigmentosum MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910 13 13 1.0000 condition_record_support_limited 20 0 10 Xeroderma_pigmentosum 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPHA2 mondo_mondo_0007288_medgen_c1861825_omim_116600_orphanet_91492 Cataract 6 multiple types MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600,Orphanet:91492 13 13 1.0000 condition_record_support_limited 20 0 2 Cataract_6_multiple_types 17 low_record_burden_interpretation_limited low_record_burden_gene DVL3 mondo_mondo_0014819_medgen_c4225164_omim_616894_orphanet_3107_orphanet_97360 Autosomal dominant Robinow syndrome 3 MONDO:MONDO:0014819,MedGen:C4225164,OMIM:616894,Orphanet:3107,Orphanet:97360 13 13 1.0000 condition_record_support_limited 20 0 6 Autosomal_dominant_Robinow_syndrome_3 19 low_record_burden_interpretation_limited low_record_burden_gene DSP dsp_related_disorder DSP-related disorder . 13 13 1.0000 condition_record_support_limited 20 0 8 DSP-related_disorder 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSG4 mondo_mondo_0011932_medgen_c1842839_omim_607903_orphanet_55654 Hypotrichosis 6 MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654 13 13 1.0000 condition_record_support_limited 20 0 0 Hypotrichosis_6 17 low_record_burden_interpretation_limited low_record_burden_gene DNMT3A human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Acute myeloid leukemia Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 13 13 1.0000 condition_record_support_limited 20 0 9 Acute_myeloid_leukemia 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM2 mondo_mondo_0008048_mesh_d020914_medgen_c4551952_omim_160150_orphanet_169189 Autosomal dominant centronuclear myopathy MONDO:MONDO:0008048,MeSH:D020914,MedGen:C4551952,OMIM:160150,Orphanet:169189 13 13 1.0000 condition_record_support_limited 20 0 12 Autosomal_dominant_centronuclear_myopathy 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNASE1L3 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 5 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene DNAH17 mondo_mondo_0032845_medgen_c5231438_omim_618643 Spermatogenic failure 39 MONDO:MONDO:0032845,MedGen:C5231438,OMIM:618643 13 13 1.0000 condition_record_support_limited 20 0 1 Spermatogenic_failure_39 23 large_gene_or_donor_burden_stress_case donor_burden_stress DNAAF19 mondo_mondo_0013854_medgen_c3542550_omim_614679_orphanet_244 Primary ciliary dyskinesia 17 MONDO:MONDO:0013854,MedGen:C3542550,OMIM:614679,Orphanet:244 13 13 1.0000 condition_record_support_limited 20 0 6 Primary_ciliary_dyskinesia_17 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF1 mondo_mondo_0013174_medgen_c2750790_omim_613193_orphanet_244 Primary ciliary dyskinesia 13 MONDO:MONDO:0013174,MedGen:C2750790,OMIM:613193,Orphanet:244 13 13 1.0000 condition_record_support_limited 20 0 7 Primary_ciliary_dyskinesia_13 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DMD human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Elevated circulating creatine kinase concentration Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 13 13 1.0000 condition_record_support_limited 20 0 4 Elevated_circulating_creatine_kinase_concentration 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DIAPH1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 7 not_provided 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DGKE condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 5 not_provided 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DES mondo_mondo_0011482_medgen_c1858154_omim_604765_orphanet_154 Dilated cardiomyopathy 1I MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765,Orphanet:154 13 13 1.0000 condition_record_support_limited 20 0 12 Dilated_cardiomyopathy_1I 123 compact_adjacent_exon_block_opportunity local_compact_architecture DEPDC5 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 13 13 1.0000 condition_record_support_limited 20 0 5 Seizure 382 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL3 mondo_mondo_0007772_medgen_c1840389_omim_145260_orphanet_757_orphanet_88938 Pseudohypoaldosteronism type 2A MONDO:MONDO:0007772,MedGen:C1840389,OMIM:145260,Orphanet:757,Orphanet:88938 13 13 1.0000 condition_record_support_limited 20 0 7 Pseudohypoaldosteronism_type_2A 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUBN cubn_related_disorder CUBN-related disorder . 13 13 1.0000 condition_record_support_limited 20 0 8 CUBN-related_disorder 206 large_gene_or_donor_burden_stress_case donor_burden_stress CTNNA1 mondo_mondo_0012162_medgen_c1837029_omim_608970_orphanet_99001 Patterned macular dystrophy 2 MONDO:MONDO:0012162,MedGen:C1837029,OMIM:608970,Orphanet:99001 13 13 1.0000 condition_record_support_limited 20 0 7 Patterned_macular_dystrophy_2 233 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTCF mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 13 13 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSTB mondo_mondo_0009698_medgen_c0751785_omim_254800_orphanet_308 Unverricht-Lundborg syndrome MONDO:MONDO:0009698,MedGen:C0751785,OMIM:254800,Orphanet:308 13 13 1.0000 condition_record_support_limited 20 0 5 Unverricht-Lundborg_syndrome 20 compact_adjacent_exon_block_opportunity local_compact_architecture CRYBB2 mondo_mondo_0011104_medgen_c1832175_omim_601547_orphanet_1377 Cataract 3 multiple types MONDO:MONDO:0011104,MedGen:C1832175,OMIM:601547,Orphanet:1377 13 13 1.0000 condition_record_support_limited 20 0 4 Cataract_3_multiple_types 15 low_record_burden_interpretation_limited low_record_burden_gene COX20 mondo_mondo_0033645_medgen_c5436694_omim_619054 Mitochondrial complex IV deficiency, nuclear type 11 MONDO:MONDO:0033645,MedGen:C5436694,OMIM:619054 13 13 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_complex_IV_deficiency,_nuclear_type_11 15 low_record_burden_interpretation_limited low_record_burden_gene COQ9 mondo_mondo_0013840_medgen_c3553374_omim_614654_orphanet_319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:MONDO:0013840,MedGen:C3553374,OMIM:614654,Orphanet:319678 13 13 1.0000 condition_record_support_limited 20 0 7 Encephalopathy-hypertrophic_cardiomyopathy-renal_tubular_disease_syndrome 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ6 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 5 not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ2 mondo_mondo_0020715_medgen_c3714927_omim_146500 Multiple system atrophy 1, susceptibility to MONDO:MONDO:0020715,MedGen:C3714927,OMIM:146500 13 13 1.0000 condition_record_support_limited 20 0 12 Multiple_system_atrophy_1,_susceptibility_to 40 compact_adjacent_exon_block_opportunity local_compact_architecture COL4A5 human_phenotype_ontology_hp_0000790_medgen_c0018965 Hematuria Human_Phenotype_Ontology:HP:0000790,MedGen:C0018965 13 13 1.0000 condition_record_support_limited 20 0 9 Hematuria 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL3A1 col3a1_related_disorder COL3A1-related disorder . 13 13 1.0000 condition_record_support_limited 20 0 8 COL3A1-related_disorder 937 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A2 mondo_mondo_0007522_medgen_c4225429_orphanet_287 Ehlers-Danlos syndrome, classic type MONDO:MONDO:0007522,MedGen:C4225429,Orphanet:287 13 13 1.0000 condition_record_support_limited 20 0 10 Ehlers-Danlos_syndrome,_classic_type 722 large_gene_or_donor_burden_stress_case donor_burden_stress COL17A1 mondo_mondo_0017612_medgen_c0079301_omim_ps226650_orphanet_305 Junctional epidermolysis bullosa MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305 13 13 1.0000 condition_record_support_limited 20 0 9 Junctional_epidermolysis_bullosa 180 large_gene_or_donor_burden_stress_case donor_burden_stress CNOT3 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 5 See_cases|not_provided 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNB1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 6 See_cases|not_provided 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHD2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 13 13 1.0000 condition_record_support_limited 20 0 8 Intellectual_disability 368 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CFAP418 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 4 not_provided 26 compact_adjacent_exon_block_opportunity local_compact_architecture CFAP410 mondo_mondo_0011211_medgen_c1865695_omim_602271_orphanet_168549 Axial spondylometaphyseal dysplasia MONDO:MONDO:0011211,MedGen:C1865695,OMIM:602271,Orphanet:168549 13 13 1.0000 condition_record_support_limited 20 0 8 Axial_spondylometaphyseal_dysplasia 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP78 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 13 13 1.0000 condition_record_support_limited 20 0 9 Retinal_dystrophy 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP104 mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 13 13 1.0000 condition_record_support_limited 20 0 4 Joubert_syndrome_and_related_disorders 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 mondo_mondo_0010726_medgen_c0035372_omim_312750_orphanet_3095_orphanet_778 Rett syndrome MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:3095,Orphanet:778 13 13 1.0000 condition_record_support_limited 20 0 4 Rett_syndrome 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDK8 mondo_mondo_0032897_medgen_c5231489_omim_618748 Intellectual developmental disorder with hypotonia and behavioral abnormalities MONDO:MONDO:0032897,MedGen:C5231489,OMIM:618748 13 13 1.0000 condition_record_support_limited 20 0 2 Intellectual_developmental_disorder_with_hypotonia_and_behavioral_abnormalities 19 low_record_burden_interpretation_limited low_record_burden_gene CAV3 mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 13 13 1.0000 condition_record_support_limited 20 0 6 Long_QT_syndrome 26 compact_adjacent_exon_block_opportunity local_compact_architecture CACNA1G condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 3 not_provided 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1D condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 4 See_cases|not_provided 21 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1C mondo_mondo_0032756_medgen_cn260585_omim_618447 Long QT syndrome 8 MONDO:MONDO:0032756,MedGen:CN260585,OMIM:618447 13 13 1.0000 condition_record_support_limited 20 0 11 Long_QT_syndrome_8 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture C9 mondo_mondo_0013445_medgen_c3151189_omim_613825 Complement component 9 deficiency MONDO:MONDO:0013445,MedGen:C3151189,OMIM:613825 13 13 1.0000 condition_record_support_limited 20 0 11 Complement_component_9_deficiency 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C1QTNF5 mondo_mondo_0012299_medgen_c1836006_omim_609549_orphanet_35612 Nanophthalmos 2 MONDO:MONDO:0012299,MedGen:C1836006,OMIM:609549,Orphanet:35612 13 13 1.0000 condition_record_support_limited 20 0 10 Nanophthalmos_2 70 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture BRSK2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 1 not_provided|not_specified 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRIP1 breast_and_or_ovarian_cancer Breast and/or ovarian cancer MedGen:CN221562 13 13 1.0000 condition_record_support_limited 20 0 10 Breast_and/or_ovarian_cancer 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BLNK mondo_mondo_0013289_medgen_c3150752_omim_613502 Agammaglobulinemia 4, autosomal recessive MONDO:MONDO:0013289,MedGen:C3150752,OMIM:613502 13 13 1.0000 condition_record_support_limited 20 0 0 Agammaglobulinemia_4,_autosomal_recessive 15 low_record_burden_interpretation_limited low_record_burden_gene BCKDK mondo_mondo_0013970_medgen_c3554078_omim_614923_orphanet_308410 Branched-chain keto acid dehydrogenase kinase deficiency MONDO:MONDO:0013970,MedGen:C3554078,OMIM:614923,Orphanet:308410 13 13 1.0000 condition_record_support_limited 20 0 2 Branched-chain_keto_acid_dehydrogenase_kinase_deficiency 17 low_record_burden_interpretation_limited low_record_burden_gene BBS7 bbs7_related_disorder BBS7-related disorder . 13 13 1.0000 condition_record_support_limited 20 0 12 BBS7-related_disorder 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS12 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 12 not_provided 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS12 bbs12_related_disorder BBS12-related disorder . 13 13 1.0000 condition_record_support_limited 20 0 12 BBS12-related_disorder 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2B1 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 1 not_provided 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A2 mondo_mondo_0859204_medgen_c5562015_omim_619602 Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies MONDO:MONDO:0859204,MedGen:C5562015,OMIM:619602 13 13 1.0000 condition_record_support_limited 20 0 10 Fetal_akinesia,_respiratory_insufficiency,_microcephaly,_polymicrogyria,_and_dysmorphic_facies 134 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARX mondo_mondo_0010224_medgen_c0796124_omim_300004_orphanet_2508 Corpus callosum agenesis-abnormal genitalia syndrome MONDO:MONDO:0010224,MedGen:C0796124,OMIM:300004,Orphanet:2508 13 13 1.0000 condition_record_support_limited 20 0 9 Corpus_callosum_agenesis-abnormal_genitalia_syndrome 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARSG mondo_mondo_0029141_medgen_c4748364_omim_618144 Usher syndrome, type 4 MONDO:MONDO:0029141,MedGen:C4748364,OMIM:618144 13 13 1.0000 condition_record_support_limited 20 0 5 Usher_syndrome,_type_4 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARPC1B mondo_mondo_0060583_medgen_c4540232_omim_617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease MONDO:MONDO:0060583,MedGen:C4540232,OMIM:617718 13 13 1.0000 condition_record_support_limited 20 0 4 Platelet_abnormalities_with_eosinophilia_and_immune-mediated_inflammatory_disease 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARG1 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 10 not_provided 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARFGEF1 mondo_mondo_0014288_medgen_c3810212_omim_615636 Joubert syndrome 21 MONDO:MONDO:0014288,MedGen:C3810212,OMIM:615636 13 13 1.0000 condition_record_support_limited 20 0 2 Joubert_syndrome_21 79 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AP1G1 mondo_mondo_0859174_medgen_c5561952_omim_619467 Usmani-Riazuddin syndrome, autosomal dominant MONDO:MONDO:0859174,MedGen:C5561952,OMIM:619467 13 13 1.0000 condition_record_support_limited 20 0 2 Usmani-Riazuddin_syndrome,_autosomal_dominant 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALK mondo_mondo_0013083_medgen_c2751681_omim_613014_orphanet_635 Neuroblastoma, susceptibility to, 3 MONDO:MONDO:0013083,MedGen:C2751681,OMIM:613014,Orphanet:635 13 13 1.0000 condition_record_support_limited 20 0 1 Neuroblastoma,_susceptibility_to,_3 19 low_record_burden_interpretation_limited low_record_burden_gene AIPL1 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 12 not_provided 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIMP1 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 5 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFG3L2 mondo_mondo_0013776_medgen_c3280977_omim_614487_orphanet_313772 Spastic ataxia 5 MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487,Orphanet:313772 13 13 1.0000 condition_record_support_limited 20 0 6 Spastic_ataxia_5 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFG2B condition_not_provided condition not provided .|MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 8 See_cases|not_provided 21 compact_adjacent_exon_block_opportunity local_compact_architecture ADAM9 condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 1 not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTN4 mondo_mondo_0011303_medgen_c4551527_omim_603278_orphanet_656 Focal segmental glomerulosclerosis 1 MONDO:MONDO:0011303,MedGen:C4551527,OMIM:603278,Orphanet:656 13 13 1.0000 condition_record_support_limited 20 0 2 Focal_segmental_glomerulosclerosis_1 17 low_record_burden_interpretation_limited low_record_burden_gene ACTB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 13 13 1.0000 condition_record_support_limited 20 0 8 Inborn_genetic_diseases 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACAN human_phenotype_ontology_hp_0010886_mondo_mondo_0017178_medgen_c0029421_orphanet_251262_orphanet_2764 Osteochondritis dissecans Human_Phenotype_Ontology:HP:0010886,MONDO:MONDO:0017178,MedGen:C0029421,Orphanet:251262,Orphanet:2764 13 13 1.0000 condition_record_support_limited 20 0 3 Osteochondritis_dissecans 203 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ACADM acadm_related_disorder ACADM-related disorder . 13 13 1.0000 condition_record_support_limited 20 0 12 ACADM-related_disorder 370 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AARS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 13 13 1.0000 condition_record_support_limited 20 13 10 not_provided 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AAGAB condition_not_provided condition not provided MedGen:C3661900 13 13 1.0000 condition_record_support_limited 20 13 5 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF335 mondo_mondo_0014043_medgen_c3554499_omim_615095_orphanet_329228 Microcephalic primordial dwarfism due to ZNF335 deficiency MONDO:MONDO:0014043,MedGen:C3554499,OMIM:615095,Orphanet:329228 12 12 1.0000 condition_record_support_limited 20 0 2 Microcephalic_primordial_dwarfism_due_to_ZNF335_deficiency 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF292 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 12 12 1.0000 condition_record_support_limited 20 0 7 Inborn_genetic_diseases 99 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZMIZ1 syndromic_neurodevelopmental_disorder Syndromic neurodevelopmental disorder . 12 12 1.0000 condition_record_support_limited 20 0 9 Syndromic_neurodevelopmental_disorder 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XYLT1 mondo_mondo_0014343_medgen_c4014294_omim_615777_orphanet_1425 Desbuquois dysplasia 2 MONDO:MONDO:0014343,MedGen:C4014294,OMIM:615777,Orphanet:1425 12 12 1.0000 condition_record_support_limited 20 0 3 Desbuquois_dysplasia_2 23 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture WT1 human_phenotype_ontology_hp_0100001_mondo_mondo_0006292_medgen_c0345967_omim_156240_orphanet_50251 Mesothelioma, malignant Human_Phenotype_Ontology:HP:0100001,MONDO:MONDO:0006292,MedGen:C0345967,OMIM:156240,Orphanet:50251 12 12 1.0000 condition_record_support_limited 20 0 12 Mesothelioma,_malignant 153 compact_adjacent_exon_block_opportunity local_compact_architecture VWF mondo_mondo_0015630_medgen_c1282974_orphanet_166090 von Willebrand disease type 2M MONDO:MONDO:0015630,MedGen:C1282974,Orphanet:166090 12 12 1.0000 condition_record_support_limited 20 0 11 von_Willebrand_disease_type_2M 454 large_gene_or_donor_burden_stress_case donor_burden_stress VSX2 mondo_mondo_0012408_medgen_c1864721_omim_610092_orphanet_98938 Microphthalmia, isolated, with coloboma 3 MONDO:MONDO:0012408,MedGen:C1864721,OMIM:610092,Orphanet:98938 12 12 1.0000 condition_record_support_limited 20 0 11 Microphthalmia,_isolated,_with_coloboma_3 52 compact_adjacent_exon_block_opportunity local_compact_architecture UBIAD1 human_phenotype_ontology_hp_0007760_mondo_mondo_0007374_medgen_c0271287_omim_121800_orphanet_98967 Schnyder crystalline corneal dystrophy Human_Phenotype_Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800,Orphanet:98967 12 12 1.0000 condition_record_support_limited 20 0 2 Schnyder_crystalline_corneal_dystrophy 13 low_record_burden_interpretation_limited low_record_burden_gene TYR nonsyndromic_oculocutaneous_albinism Nonsyndromic Oculocutaneous Albinism . 12 12 1.0000 condition_record_support_limited 20 0 8 Nonsyndromic_Oculocutaneous_Albinism 311 compact_adjacent_exon_block_opportunity local_compact_architecture TTN mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 Centronuclear myopathy MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 12 12 1.0000 condition_record_support_limited 20 0 7 Centronuclear_myopathy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TRPV6 mondo_mondo_0032591_medgen_c1300287_omim_618188 Hyperparathyroidism, transient neonatal MONDO:MONDO:0032591,MedGen:C1300287,OMIM:618188 12 12 1.0000 condition_record_support_limited 20 0 2 Hyperparathyroidism,_transient_neonatal 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRMT10A mondo_mondo_0000208_medgen_c4014997_omim_616033_orphanet_391408 Microcephaly, short stature, and impaired glucose metabolism 1 MONDO:MONDO:0000208,MedGen:C4014997,OMIM:616033,Orphanet:391408 12 12 1.0000 condition_record_support_limited 20 0 5 Microcephaly,_short_stature,_and_impaired_glucose_metabolism_1 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIT1 mondo_mondo_0054742_medgen_c4693466_omim_617873 Combined oxidative phosphorylation deficiency 35 MONDO:MONDO:0054742,MedGen:C4693466,OMIM:617873 12 12 1.0000 condition_record_support_limited 20 0 7 Combined_oxidative_phosphorylation_deficiency_35 17 low_record_burden_interpretation_limited low_record_burden_gene TRIM14 mondo_mondo_0012495_medgen_c1864872_omim_610442_orphanet_168454 Spondyloepimetaphyseal dysplasia, Genevieve type MONDO:MONDO:0012495,MedGen:C1864872,OMIM:610442,Orphanet:168454 12 12 1.0000 condition_record_support_limited 20 0 4 Spondyloepimetaphyseal_dysplasia,_Genevieve_type 18 low_record_burden_interpretation_limited low_record_burden_gene TPM3 mondo_mondo_0800341_medgen_cn178536_omim_255310 Congenital myopathy 4A, autosomal dominant MONDO:MONDO:0800341,MedGen:CN178536,OMIM:255310 12 12 1.0000 condition_record_support_limited 20 0 7 Congenital_myopathy_4A,_autosomal_dominant 35 compact_adjacent_exon_block_opportunity local_compact_architecture TP53 mondo_mondo_0015278_medgen_c2931038_omim_260350_orphanet_1333 Familial pancreatic carcinoma MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333 12 12 1.0000 condition_record_support_limited 20 0 12 Familial_pancreatic_carcinoma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TNR mondo_mondo_0859212_medgen_c5562040_omim_619653 Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus MONDO:MONDO:0859212,MedGen:C5562040,OMIM:619653 12 12 1.0000 condition_record_support_limited 20 0 7 Neurodevelopmental_disorder,_nonprogressive,_with_spasticity_and_transient_opisthotonus 13 low_record_burden_interpretation_limited low_record_burden_gene TNPO2 mondo_mondo_0859197_medgen_c5561997_omim_619556 Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies MONDO:MONDO:0859197,MedGen:C5561997,OMIM:619556 12 12 1.0000 condition_record_support_limited 20 0 1 Intellectual_developmental_disorder_with_hypotonia,_impaired_speech,_and_dysmorphic_facies 16 low_record_burden_interpretation_limited low_record_burden_gene TNFRSF11A mondo_mondo_0012859_medgen_c2676766_omim_612301_orphanet_178389 Autosomal recessive osteopetrosis 7 MONDO:MONDO:0012859,MedGen:C2676766,OMIM:612301,Orphanet:178389 12 12 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_osteopetrosis_7 32 compact_adjacent_exon_block_opportunity local_compact_architecture TMTC3 mondo_mondo_0014992_medgen_c4310646_omim_617255 Lissencephaly 8 MONDO:MONDO:0014992,MedGen:C4310646,OMIM:617255 12 12 1.0000 condition_record_support_limited 20 0 4 Lissencephaly_8 17 low_record_burden_interpretation_limited low_record_burden_gene TMPRSS3 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 12 12 1.0000 condition_record_support_limited 20 0 11 Rare_genetic_deafness 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMIE mondo_mondo_0010965_medgen_c1832992_omim_600971_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 6 MONDO:MONDO:0010965,MedGen:C1832992,OMIM:600971,Orphanet:90636 12 12 1.0000 condition_record_support_limited 20 0 3 Autosomal_recessive_nonsyndromic_hearing_loss_6 17 low_record_burden_interpretation_limited low_record_burden_gene THRB thrb_related_disorder THRB-related disorder . 12 12 1.0000 condition_record_support_limited 20 0 9 THRB-related_disorder 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERC mondo_mondo_0013879_medgen_c3553622_omim_614743_orphanet_88 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 MONDO:MONDO:0013879,MedGen:C3553622,OMIM:614743,Orphanet:88 12 12 1.0000 condition_record_support_limited 20 0 8 Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_2 49 single_exon_hotspot_opportunity local_compact_architecture TECTA medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 12 12 1.0000 condition_record_support_limited 20 0 6 Rare_genetic_deafness 123 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCTN2 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 7 not_provided 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCOF1 tcof1_related_disorder TCOF1-related disorder . 12 12 1.0000 condition_record_support_limited 20 0 3 TCOF1-related_disorder 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF4 mondo_mondo_0013203_medgen_c2750451_omim_613267_orphanet_98974 Corneal dystrophy, Fuchs endothelial, 3 MONDO:MONDO:0013203,MedGen:C2750451,OMIM:613267,Orphanet:98974 12 12 1.0000 condition_record_support_limited 20 0 11 Corneal_dystrophy,_Fuchs_endothelial,_3 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBR1 human_phenotype_ontology_hp_0011343_medgen_c2237142 Moderate global developmental delay Human_Phenotype_Ontology:HP:0011343,MedGen:C2237142 12 12 1.0000 condition_record_support_limited 20 0 11 Moderate_global_developmental_delay 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBCE mondo_mondo_0009486_medgen_c1855648_omim_244460_orphanet_2333_orphanet_93324 Autosomal recessive Kenny-Caffey syndrome MONDO:MONDO:0009486,MedGen:C1855648,OMIM:244460,Orphanet:2333,Orphanet:93324 12 12 1.0000 condition_record_support_limited 20 0 12 Autosomal_recessive_Kenny-Caffey_syndrome 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D23 mondo_mondo_0054669_medgen_c4540164_omim_617695_orphanet_611247 Pontocerebellar hypoplasia, type 11 MONDO:MONDO:0054669,MedGen:C4540164,OMIM:617695,Orphanet:611247 12 12 1.0000 condition_record_support_limited 20 0 4 Pontocerebellar_hypoplasia,_type_11 14 low_record_burden_interpretation_limited low_record_burden_gene SUMF1 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 11 not_provided 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP2 mondo_mondo_0015541_medgen_c0272199_omim_ps267700_orphanet_158038_orphanet_540 Familial hemophagocytic lymphohistiocytosis MONDO:MONDO:0015541,MedGen:C0272199,OMIM:PS267700,Orphanet:158038,Orphanet:540 12 12 1.0000 condition_record_support_limited 20 0 11 Familial_hemophagocytic_lymphohistiocytosis 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STIL mondo_mondo_0012989_medgen_c2675187_omim_612703_orphanet_2512 Microcephaly 7, primary, autosomal recessive MONDO:MONDO:0012989,MedGen:C2675187,OMIM:612703,Orphanet:2512 12 12 1.0000 condition_record_support_limited 20 0 0 Microcephaly_7,_primary,_autosomal_recessive 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAC3 mondo_mondo_0009722_medgen_c1850625_omim_255995_orphanet_168572 Bailey-Bloch congenital myopathy MONDO:MONDO:0009722,MedGen:C1850625,OMIM:255995,Orphanet:168572 12 12 1.0000 condition_record_support_limited 20 0 3 Bailey-Bloch_congenital_myopathy 14 low_record_burden_interpretation_limited low_record_burden_gene SRD5A3 mondo_mondo_0012885_medgen_c4317224_omim_612379_orphanet_324737 SRD5A3-congenital disorder of glycosylation MONDO:MONDO:0012885,MedGen:C4317224,OMIM:612379,Orphanet:324737 12 12 1.0000 condition_record_support_limited 20 0 7 SRD5A3-congenital_disorder_of_glycosylation 23 compact_adjacent_exon_block_opportunity local_compact_architecture SQSTM1 mondo_mondo_0014940_medgen_c4310693_omim_617145 Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset MONDO:MONDO:0014940,MedGen:C4310693,OMIM:617145 12 12 1.0000 condition_record_support_limited 20 0 3 Neurodegeneration_with_ataxia,_dystonia,_and_gaze_palsy,_childhood-onset 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPTA1 spta1_related_disorder SPTA1-related disorder . 12 12 1.0000 condition_record_support_limited 20 0 8 SPTA1-related_disorder 210 large_gene_or_donor_burden_stress_case donor_burden_stress SPRED1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 12 12 1.0000 condition_record_support_limited 20 0 10 Cardiovascular_phenotype 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPINK1 mondo_mondo_0008185_medgen_c0238339_omim_167800_orphanet_676 Hereditary pancreatitis MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676 12 12 1.0000 condition_record_support_limited 20 0 2 Hereditary_pancreatitis 13 low_record_burden_interpretation_limited low_record_burden_gene SPG7 spg7_related_disorder SPG7-related disorder . 12 12 1.0000 condition_record_support_limited 20 0 10 SPG7-related_disorder 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG21 mondo_mondo_0009568_medgen_c1855346_omim_248900_orphanet_101001 Mast syndrome MONDO:MONDO:0009568,MedGen:C1855346,OMIM:248900,Orphanet:101001 12 12 1.0000 condition_record_support_limited 20 0 5 Mast_syndrome 13 low_record_burden_interpretation_limited low_record_burden_gene SPATA22 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 12 12 1.0000 condition_record_support_limited 20 0 10 Inborn_genetic_diseases 186 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SPART mondo_mondo_0010156_medgen_c0393559_omim_275900_orphanet_101000 Troyer syndrome MONDO:MONDO:0010156,MedGen:C0393559,OMIM:275900,Orphanet:101000 12 12 1.0000 condition_record_support_limited 20 0 7 Troyer_syndrome 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX6 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 12 12 1.0000 condition_record_support_limited 20 12 6 not_provided 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOS1 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 Noonan syndrome 1 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 12 12 1.0000 condition_record_support_limited 20 0 11 Noonan_syndrome_1 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMPX mondo_mondo_0010238_medgen_c1848204_omim_300066_orphanet_90625 Hearing loss, X-linked 4 MONDO:MONDO:0010238,MedGen:C1848204,OMIM:300066,Orphanet:90625 12 12 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_X-linked_4 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCB1 mondo_mondo_0013820_medgen_c3553248_omim_614608_orphanet_1465 Intellectual disability, autosomal dominant 15 MONDO:MONDO:0013820,MedGen:C3553248,OMIM:614608,Orphanet:1465 12 12 1.0000 condition_record_support_limited 20 0 7 Intellectual_disability,_autosomal_dominant_15 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 12 12 1.0000 condition_record_support_limited 20 12 6 not_provided 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC4A1 slc4a1_related_disorder SLC4A1-related disorder . 12 12 1.0000 condition_record_support_limited 20 0 8 SLC4A1-related_disorder 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A4 monogenic_hearing_loss Monogenic hearing loss . 12 12 1.0000 condition_record_support_limited 20 0 11 Monogenic_hearing_loss 631 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A2 mondo_mondo_0005516_medgen_c0029422 Osteochondrodysplasia MONDO:MONDO:0005516,MedGen:C0029422 12 12 1.0000 condition_record_support_limited 20 0 11 Osteochondrodysplasia 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A13 slc25a13_related_disorder SLC25A13-related disorder . 12 12 1.0000 condition_record_support_limited 20 0 10 SLC25A13-related_disorder 213 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC22A5 human_phenotype_ontology_hp_0003234_medgen_c5848230 Decreased circulating carnitine concentration Human_Phenotype_Ontology:HP:0003234,MedGen:C5848230 12 12 1.0000 condition_record_support_limited 20 0 12 Decreased_circulating_carnitine_concentration 285 compact_adjacent_exon_block_opportunity local_compact_architecture SKIC3 mondo_mondo_0009105_medgen_c1857276_omim_ps222470_orphanet_84064 Trichohepatoenteric syndrome MONDO:MONDO:0009105,MedGen:C1857276,OMIM:PS222470,Orphanet:84064 12 12 1.0000 condition_record_support_limited 20 0 9 Trichohepatoenteric_syndrome 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETBP1 setbp1_related_disorder SETBP1-related disorder . 12 12 1.0000 condition_record_support_limited 20 0 8 SETBP1-related_disorder 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDCCAG8 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 10 not_provided 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCNN1A mondo_mondo_0029132_medgen_c4748292_omim_618126 Liddle syndrome 3 MONDO:MONDO:0029132,MedGen:C4748292,OMIM:618126 12 12 1.0000 condition_record_support_limited 20 0 12 Liddle_syndrome_3 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN9A mondo_mondo_0008179_medgen_c1833661_omim_167400_orphanet_46348 Paroxysmal extreme pain disorder MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400,Orphanet:46348 12 12 1.0000 condition_record_support_limited 20 0 8 Paroxysmal_extreme_pain_disorder 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A mondo_mondo_0042979_medgen_c3714580_omim_170400_orphanet_681 Hypokalemic periodic paralysis, type 1 MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681 12 12 1.0000 condition_record_support_limited 20 0 12 Hypokalemic_periodic_paralysis,_type_1 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 12 12 1.0000 condition_record_support_limited 20 0 9 Seizure 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCAF4 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 2 not_provided 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SASH1 mondo_mondo_0024524_medgen_c2675711_omim_127500 Dyschromatosis universalis hereditaria 1 MONDO:MONDO:0024524,MedGen:C2675711,OMIM:127500 12 12 1.0000 condition_record_support_limited 20 0 0 Dyschromatosis_universalis_hereditaria_1 14 low_record_burden_interpretation_limited low_record_burden_gene SAR1B mondo_mondo_0009528_medgen_c0795956_omim_246700_orphanet_71 Chylomicron retention disease MONDO:MONDO:0009528,MedGen:C0795956,OMIM:246700,Orphanet:71 12 12 1.0000 condition_record_support_limited 20 0 5 Chylomicron_retention_disease 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RRM2B mondo_mondo_0013117_medgen_c2751319_omim_613077 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 MONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077 12 12 1.0000 condition_record_support_limited 20 0 12 Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_5 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS26 human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Diamond-Blackfan anemia Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 12 12 1.0000 condition_record_support_limited 20 0 7 Diamond-Blackfan_anemia 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGR rpgr_related_disorder RPGR-related disorder . 12 12 1.0000 condition_record_support_limited 20 0 7 RPGR-related_disorder 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 rpe65_related_disorder RPE65-related disorder MedGen:CN239301 12 12 1.0000 condition_record_support_limited 20 0 12 RPE65-related_disorder 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RORC mondo_mondo_0014710_medgen_c5567647_omim_616622_orphanet_477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622,Orphanet:477857 12 12 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_RORgamma_receptor_deficiency 12 low_record_burden_interpretation_limited low_record_burden_gene RNU4ATAC mondo_mondo_0014722_medgen_c1846059_omim_616651_orphanet_353298 Roifman syndrome MONDO:MONDO:0014722,MedGen:C1846059,OMIM:616651,Orphanet:353298 12 12 1.0000 condition_record_support_limited 20 0 12 Roifman_syndrome 28 single_exon_hotspot_opportunity local_compact_architecture RNU4ATAC mondo_mondo_0009191_medgen_c0796021_omim_226960_orphanet_1824 Lowry-Wood syndrome MONDO:MONDO:0009191,MedGen:C0796021,OMIM:226960,Orphanet:1824 12 12 1.0000 condition_record_support_limited 20 0 9 Lowry-Wood_syndrome 28 single_exon_hotspot_opportunity local_compact_architecture RIT1 mondo_mondo_0020297_medgen_c5681679_orphanet_98733 Noonan syndrome and Noonan-related syndrome MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 12 12 1.0000 condition_record_support_limited 20 0 12 Noonan_syndrome_and_Noonan-related_syndrome 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RFXAP mondo_mondo_0971015_medgen_c1859537_omim_620817 MHC class II deficiency 4 MONDO:MONDO:0971015,MedGen:C1859537,OMIM:620817 12 12 1.0000 condition_record_support_limited 20 0 4 MHC_class_II_deficiency_4 27 compact_adjacent_exon_block_opportunity local_compact_architecture REN mondo_mondo_0013128_medgen_c2751310_omim_613092_orphanet_217330 Familial juvenile hyperuricemic nephropathy type 2 MONDO:MONDO:0013128,MedGen:C2751310,OMIM:613092,Orphanet:217330 12 12 1.0000 condition_record_support_limited 20 0 7 Familial_juvenile_hyperuricemic_nephropathy_type_2 23 compact_adjacent_exon_block_opportunity local_compact_architecture RASGRP1 mondo_mondo_0032803_medgen_c5231402_omim_618534_orphanet_664699 Immunodeficiency 64 MONDO:MONDO:0032803,MedGen:C5231402,OMIM:618534,Orphanet:664699 12 12 1.0000 condition_record_support_limited 20 0 3 Immunodeficiency_64 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB28 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 1 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYCR1 human_phenotype_ontology_hp_0000973_mondo_mondo_0016175_medgen_c0010495_orphanet_209 Cutis laxa Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209 12 12 1.0000 condition_record_support_limited 20 0 11 Cutis_laxa 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 mondo_mondo_0012371_medgen_c1860991_omim_609942_orphanet_648 Noonan syndrome 3 MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648 12 12 1.0000 condition_record_support_limited 20 0 12 Noonan_syndrome_3 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTEN human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Prostate cancer Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 12 12 1.0000 condition_record_support_limited 20 0 12 Prostate_cancer 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PRSS23 mondo_mondo_0007589_medgen_c1851402_omim_133780_orphanet_891_orphanet_90050 Exudative vitreoretinopathy 1 MONDO:MONDO:0007589,MedGen:C1851402,OMIM:133780,Orphanet:891,Orphanet:90050 12 12 1.0000 condition_record_support_limited 20 0 5 Exudative_vitreoretinopathy_1 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPA2 mondo_mondo_0014973_medgen_c4310664_omim_617222 Sudden cardiac failure, infantile MONDO:MONDO:0014973,MedGen:C4310664,OMIM:617222 12 12 1.0000 condition_record_support_limited 20 0 5 Sudden_cardiac_failure,_infantile 18 low_record_burden_interpretation_limited low_record_burden_gene POR human_phenotype_ontology_hp_0008258_mondo_mondo_0018479_medgen_c0001627_orphanet_418 Congenital adrenal hyperplasia Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418 12 12 1.0000 condition_record_support_limited 20 0 9 Congenital_adrenal_hyperplasia 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT1 mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 Autosomal recessive limb-girdle muscular dystrophy MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 12 12 1.0000 condition_record_support_limited 20 0 12 Autosomal_recessive_limb-girdle_muscular_dystrophy 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3B mondo_mondo_0030677_medgen_c5676914_omim_619742 Charcot-Marie-Tooth disease, demyelinating, IIA 1I MONDO:MONDO:0030677,MedGen:C5676914,OMIM:619742 12 12 1.0000 condition_record_support_limited 20 0 8 Charcot-Marie-Tooth_disease,_demyelinating,_IIA_1I 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POC1A condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 12 12 1.0000 condition_record_support_limited 20 12 5 See_cases|not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNKP mondo_mondo_0014557_medgen_c4225397_omim_616267_orphanet_459033 Ataxia - oculomotor apraxia type 4 MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267,Orphanet:459033 12 12 1.0000 condition_record_support_limited 20 0 8 Ataxia_-_oculomotor_apraxia_type_4 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMS2 mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 12 12 1.0000 condition_record_support_limited 20 0 11 Carcinoma_of_colon 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PLXNA1 mondo_mondo_0859260_medgen_c5677017_omim_619955 Dworschak-Punetha neurodevelopmental syndrome MONDO:MONDO:0859260,MedGen:C5677017,OMIM:619955 12 12 1.0000 condition_record_support_limited 20 0 5 Dworschak-Punetha_neurodevelopmental_syndrome 17 low_record_burden_interpretation_limited low_record_burden_gene PIGS mondo_mondo_0029140_medgen_c4748357_omim_618143 Glycosylphosphatidylinositol biosynthesis defect 18 MONDO:MONDO:0029140,MedGen:C4748357,OMIM:618143 12 12 1.0000 condition_record_support_limited 20 0 0 Glycosylphosphatidylinositol_biosynthesis_defect_18 13 low_record_burden_interpretation_limited low_record_burden_gene PIDD1 mondo_mondo_0030785_medgen_c5676961_omim_619827 Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly MONDO:MONDO:0030785,MedGen:C5676961,OMIM:619827 12 12 1.0000 condition_record_support_limited 20 0 3 Intellectual_developmental_disorder,_autosomal_recessive_75,_with_neuropsychiatric_features_and_variant_lissencephaly 15 low_record_burden_interpretation_limited low_record_burden_gene PIBF1 mondo_mondo_0033311_medgen_c4540389_omim_617767 Joubert syndrome 33 MONDO:MONDO:0033311,MedGen:C4540389,OMIM:617767 12 12 1.0000 condition_record_support_limited 20 0 4 Joubert_syndrome_33 17 low_record_burden_interpretation_limited low_record_burden_gene PHKB condition_not_provided condition not provided .|MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 9 See_cases|not_provided 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDSS1 mondo_mondo_0013837_medgen_c3553354_omim_614651_orphanet_254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome MONDO:MONDO:0013837,MedGen:C3553354,OMIM:614651,Orphanet:254898 12 12 1.0000 condition_record_support_limited 20 0 2 Deafness-encephaloneuropathy-obesity-valvulopathy_syndrome 15 low_record_burden_interpretation_limited low_record_burden_gene PDHA1 mondo_mondo_0019169_medgen_c0034345_omim_ps312170_orphanet_765_orphanet_79243 Pyruvate dehydrogenase complex deficiency MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:765,Orphanet:79243 12 12 1.0000 condition_record_support_limited 20 0 11 Pyruvate_dehydrogenase_complex_deficiency 395 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE4D condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 12 12 1.0000 condition_record_support_limited 20 12 4 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 mondo_mondo_0007350_medgen_c5886785_omim_120200 Coloboma, ocular, autosomal dominant MONDO:MONDO:0007350,MedGen:C5886785,OMIM:120200 12 12 1.0000 condition_record_support_limited 20 0 6 Coloboma,_ocular,_autosomal_dominant 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX2 pax2_related_disorder PAX2-related disorder . 12 12 1.0000 condition_record_support_limited 20 0 8 PAX2-related_disorder 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PARN human_phenotype_ontology_hp_0002206_human_phenotype_ontology_hp_0006523_mondo_mondo_0002771_medgen_c0034069 Pulmonary fibrosis Human_Phenotype_Ontology:HP:0002206,Human_Phenotype_Ontology:HP:0006523,MONDO:MONDO:0002771,MedGen:C0034069 12 12 1.0000 condition_record_support_limited 20 0 10 Pulmonary_fibrosis 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PARK7 mondo_mondo_0011658_medgen_c1853445_omim_606324_orphanet_2828 Autosomal recessive early-onset Parkinson disease 7 MONDO:MONDO:0011658,MedGen:C1853445,OMIM:606324,Orphanet:2828 12 12 1.0000 condition_record_support_limited 20 0 3 Autosomal_recessive_early-onset_Parkinson_disease_7 16 low_record_burden_interpretation_limited low_record_burden_gene NUP93 mondo_mondo_0014817_medgen_c4225166_omim_616892_orphanet_656 Nephrotic syndrome, type 12 MONDO:MONDO:0014817,MedGen:C4225166,OMIM:616892,Orphanet:656 12 12 1.0000 condition_record_support_limited 20 0 2 Nephrotic_syndrome,_type_12 19 low_record_burden_interpretation_limited low_record_burden_gene NRAS mondo_mondo_0013186_medgen_c2750732_omim_613224_orphanet_648 Noonan syndrome 6 MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648 12 12 1.0000 condition_record_support_limited 20 0 10 Noonan_syndrome_6 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR3C1 mondo_mondo_0014421_medgen_c1841972_omim_615962_orphanet_786 Glucocorticoid resistance MONDO:MONDO:0014421,MedGen:C1841972,OMIM:615962,Orphanet:786 12 12 1.0000 condition_record_support_limited 20 0 0 Glucocorticoid_resistance 16 low_record_burden_interpretation_limited low_record_burden_gene NPHS2 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 12 12 1.0000 condition_record_support_limited 20 0 7 Nephrotic_syndrome 158 compact_adjacent_exon_block_opportunity local_compact_architecture NONO condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 12 12 1.0000 condition_record_support_limited 20 12 3 See_cases|not_provided 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NLRP3 mondo_mondo_0008633_medgen_c0268390_omim_191900_orphanet_575 Familial amyloid nephropathy with urticaria AND deafness MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900,Orphanet:575 12 12 1.0000 condition_record_support_limited 20 0 11 Familial_amyloid_nephropathy_with_urticaria_AND_deafness 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NLRP3 mondo_mondo_0011776_medgen_c0409818_omim_607115_orphanet_1451 Chronic infantile neurological, cutaneous and articular syndrome MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115,Orphanet:1451 12 12 1.0000 condition_record_support_limited 20 0 12 Chronic_infantile_neurological,_cutaneous_and_articular_syndrome 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFU1 mondo_mondo_0011582_medgen_c3276432_omim_605711_orphanet_401869 Multiple mitochondrial dysfunctions syndrome 1 MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711,Orphanet:401869 12 12 1.0000 condition_record_support_limited 20 0 7 Multiple_mitochondrial_dysfunctions_syndrome_1 17 low_record_burden_interpretation_limited low_record_burden_gene NDUFV1 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 12 12 1.0000 condition_record_support_limited 20 0 10 Leigh_syndrome 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFS7 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 3 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCR1 mondo_mondo_0009273_medgen_c3463897_omim_231090_orphanet_254688_orphanet_99927 Hydatidiform mole, recurrent, 1 MONDO:MONDO:0009273,MedGen:C3463897,OMIM:231090,Orphanet:254688,Orphanet:99927 12 12 1.0000 condition_record_support_limited 20 0 1 Hydatidiform_mole,_recurrent,_1 14 low_record_burden_interpretation_limited low_record_burden_gene NANS mondo_mondo_0012495_medgen_c1864872_omim_610442_orphanet_168454 Spondyloepimetaphyseal dysplasia, Genevieve type MONDO:MONDO:0012495,MedGen:C1864872,OMIM:610442,Orphanet:168454 12 12 1.0000 condition_record_support_limited 20 0 4 Spondyloepimetaphyseal_dysplasia,_Genevieve_type 18 low_record_burden_interpretation_limited low_record_burden_gene NALCN mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 12 12 1.0000 condition_record_support_limited 20 0 7 Inborn_genetic_diseases 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYPN mondo_mondo_0015023_medgen_c4479186_omim_617336 MYPN-related myopathy MONDO:MONDO:0015023,MedGen:C4479186,OMIM:617336 12 12 1.0000 condition_record_support_limited 20 0 5 MYPN-related_myopathy 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO6 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 12 12 1.0000 condition_record_support_limited 20 0 6 Rare_genetic_deafness 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO1E condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 2 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYH9 mondo_mondo_0011350_medgen_c1863659_omim_603622_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 17 MONDO:MONDO:0011350,MedGen:C1863659,OMIM:603622,Orphanet:90635 12 12 1.0000 condition_record_support_limited 20 0 10 Autosomal_dominant_nonsyndromic_hearing_loss_17 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MTRFR human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 12 12 1.0000 condition_record_support_limited 20 0 12 Spastic_paraplegia 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTOR mondo_mondo_0100283_medgen_cn300503 Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes MONDO:MONDO:0100283,MedGen:CN300503 12 12 1.0000 condition_record_support_limited 20 0 9 Overgrowth_syndrome_and/or_cerebral_malformations_due_to_abnormalities_in_MTOR_pathway_genes 52 large_gene_or_donor_burden_stress_case donor_burden_stress MSTO1 mondo_mondo_0044714_medgen_c4540096_omim_617675_orphanet_502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:MONDO:0044714,MedGen:C4540096,OMIM:617675,Orphanet:502423 12 12 1.0000 condition_record_support_limited 20 0 7 Mitochondrial_myopathy-cerebellar_ataxia-pigmentary_retinopathy_syndrome 17 low_record_burden_interpretation_limited low_record_burden_gene MSH6 mondo_mondo_0010159_medgen_c5399763_omim_276300_orphanet_252202 Mismatch repair cancer syndrome 1 MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:252202 12 12 1.0000 condition_record_support_limited 20 0 10 Mismatch_repair_cancer_syndrome_1 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MRPS22 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 12 12 1.0000 condition_record_support_limited 20 12 3 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene MPO mondo_mondo_0009694_medgen_c0398595_omim_254600_orphanet_2587 Myeloperoxidase deficiency MONDO:MONDO:0009694,MedGen:C0398595,OMIM:254600,Orphanet:2587 12 12 1.0000 condition_record_support_limited 20 0 6 Myeloperoxidase_deficiency 15 low_record_burden_interpretation_limited low_record_burden_gene MPLKIP condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 2 not_provided 22 compact_adjacent_exon_block_opportunity local_compact_architecture MMP2 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 2 not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMAB condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 11 not_provided 108 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMAB human_phenotype_ontology_hp_0002912_human_phenotype_ontology_hp_0003123_human_phenotype_ontology_hp_0008295_mondo_mondo_0002012_mesh_c537358_medgen_c0268583_omim_ps251000 Methylmalonic acidemia Human_Phenotype_Ontology:HP:0002912,Human_Phenotype_Ontology:HP:0003123,Human_Phenotype_Ontology:HP:0008295,MONDO:MONDO:0002012,MeSH:C537358,MedGen:C0268583,OMIM:PS251000 12 12 1.0000 condition_record_support_limited 20 0 12 Methylmalonic_acidemia 108 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MLIP mondo_mondo_0979249_medgen_cn322496_omim_ps620138 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis MONDO:MONDO:0979249,MedGen:CN322496,OMIM:PS620138 12 12 1.0000 condition_record_support_limited 20 0 2 Myopathy_with_myalgia,_increased_serum_creatine_kinase,_and_with_or_without_episodic_rhabdomyolysis 17 low_record_burden_interpretation_limited low_record_burden_gene MKS1 mks1_related_disorder MKS1-related disorder MedGen:CN239382 12 12 1.0000 condition_record_support_limited 20 0 11 MKS1-related_disorder 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MIPEP mondo_mondo_0014976_medgen_c4310661_omim_617228_orphanet_478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome MONDO:MONDO:0014976,MedGen:C4310661,OMIM:617228,Orphanet:478049 12 12 1.0000 condition_record_support_limited 20 0 5 Lethal_left_ventricular_non-compaction-seizures-hypotonia-cataract-developmental_delay_syndrome 18 low_record_burden_interpretation_limited low_record_burden_gene MINPP1 mondo_mondo_0030438_medgen_c5561987_omim_619527 Pontocerebellar hypoplasia, type 16 MONDO:MONDO:0030438,MedGen:C5561987,OMIM:619527 12 12 1.0000 condition_record_support_limited 20 0 1 Pontocerebellar_hypoplasia,_type_16 16 low_record_burden_interpretation_limited low_record_burden_gene MERTK medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 12 12 1.0000 condition_record_support_limited 20 0 11 Autosomal_recessive_retinitis_pigmentosa 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECOM mondo_mondo_0014758_medgen_c4225221_omim_616738_orphanet_71289 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 MONDO:MONDO:0014758,MedGen:C4225221,OMIM:616738,Orphanet:71289 12 12 1.0000 condition_record_support_limited 20 0 1 Radioulnar_synostosis_with_amegakaryocytic_thrombocytopenia_2 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCIDAS human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 12 12 1.0000 condition_record_support_limited 20 0 1 Primary_ciliary_dyskinesia 17 low_record_burden_interpretation_limited low_record_burden_gene MCCC1 mccc1_related_disorder MCCC1-related disorder . 12 12 1.0000 condition_record_support_limited 20 0 11 MCCC1-related_disorder 203 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MC4R human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 12 12 1.0000 condition_record_support_limited 20 0 8 Obesity 59 single_exon_hotspot_opportunity local_compact_architecture MAPKBP1 mondo_mondo_0014997_medgen_c4310640_omim_617271 Nephronophthisis 20 MONDO:MONDO:0014997,MedGen:C4310640,OMIM:617271 12 12 1.0000 condition_record_support_limited 20 0 1 Nephronophthisis_20 14 low_record_burden_interpretation_limited low_record_burden_gene MAP2K2 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 11 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAOA mondo_mondo_0010379_medgen_c0796275_omim_300615_orphanet_3057 Brunner syndrome MONDO:MONDO:0010379,MedGen:C0796275,OMIM:300615,Orphanet:3057 12 12 1.0000 condition_record_support_limited 20 0 1 Brunner_syndrome 17 low_record_burden_interpretation_limited low_record_burden_gene MAN1B1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 12 12 1.0000 condition_record_support_limited 20 12 6 not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAK human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 12 12 1.0000 condition_record_support_limited 20 0 8 Retinitis_pigmentosa 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMX1B mondo_mondo_0009724_medgen_c0403548_omim_256020_orphanet_2613 Nail-patella-like renal disease MONDO:MONDO:0009724,MedGen:C0403548,OMIM:256020,Orphanet:2613 12 12 1.0000 condition_record_support_limited 20 0 11 Nail-patella-like_renal_disease 148 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMX1B lmx1b_related_disorder LMX1B-related disorder . 12 12 1.0000 condition_record_support_limited 20 0 5 LMX1B-related_disorder 148 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMNA mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 Primary familial dilated cardiomyopathy MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 12 12 1.0000 condition_record_support_limited 20 0 9 Primary_familial_dilated_cardiomyopathy 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 12 12 1.0000 condition_record_support_limited 20 0 6 Primary_dilated_cardiomyopathy 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Muscular dystrophy Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 12 12 1.0000 condition_record_support_limited 20 0 9 Muscular_dystrophy 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMBR1 mondo_mondo_0008270_medgen_c1868114_omim_174500_orphanet_2439_orphanet_2950_orphanet_93336 Polydactyly of a triphalangeal thumb MONDO:MONDO:0008270,MedGen:C1868114,OMIM:174500,Orphanet:2439,Orphanet:2950,Orphanet:93336 12 12 1.0000 condition_record_support_limited 20 0 6 Polydactyly_of_a_triphalangeal_thumb 18 low_record_burden_interpretation_limited low_record_burden_gene LCA5 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 12 12 1.0000 condition_record_support_limited 20 0 10 Leber_congenital_amaurosis 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMA2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 12 12 1.0000 condition_record_support_limited 20 0 9 Inborn_genetic_diseases 953 large_gene_or_donor_burden_stress_case donor_burden_stress LAMA2 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 12 12 1.0000 condition_record_support_limited 20 0 7 Abnormality_of_the_musculature 953 large_gene_or_donor_burden_stress_case donor_burden_stress KYNU mondo_mondo_0060555_medgen_c4540014_omim_617661 Vertebral, cardiac, renal, and limb defects syndrome 2 MONDO:MONDO:0060555,MedGen:C4540014,OMIM:617661 12 12 1.0000 condition_record_support_limited 20 0 9 Vertebral,_cardiac,_renal,_and_limb_defects_syndrome_2 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRT5 mondo_mondo_0030525_medgen_c5562009_omim_619588 Epidermolysis bullosa simplex 2B, generalized intermediate MONDO:MONDO:0030525,MedGen:C5562009,OMIM:619588 12 12 1.0000 condition_record_support_limited 20 0 9 Epidermolysis_bullosa_simplex_2B,_generalized_intermediate 96 compact_adjacent_exon_block_opportunity local_compact_architecture KRT14 mondo_mondo_0017610_medgen_c0079298_omim_ps131760_orphanet_304 Epidermolysis bullosa simplex MONDO:MONDO:0017610,MedGen:C0079298,OMIM:PS131760,Orphanet:304 12 12 1.0000 condition_record_support_limited 20 0 8 Epidermolysis_bullosa_simplex 76 compact_adjacent_exon_block_opportunity local_compact_architecture KMT2B mondo_mondo_0030969_medgen_c5677008_omim_619934 Intellectual developmental disorder, autosomal dominant 68 MONDO:MONDO:0030969,MedGen:C5677008,OMIM:619934 12 12 1.0000 condition_record_support_limited 20 0 5 Intellectual_developmental_disorder,_autosomal_dominant_68 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIT condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 12 12 1.0000 condition_record_support_limited 20 12 6 not_provided 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KISS1R condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 3 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene KIF5A mondo_mondo_0014979_medgen_c4310658_omim_617235 Myoclonus, intractable, neonatal MONDO:MONDO:0014979,MedGen:C4310658,OMIM:617235 12 12 1.0000 condition_record_support_limited 20 0 4 Myoclonus,_intractable,_neonatal 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNT2 mondo_mondo_0033366_medgen_c4540411_omim_617771 Developmental and epileptic encephalopathy, 57 MONDO:MONDO:0033366,MedGen:C4540411,OMIM:617771 12 12 1.0000 condition_record_support_limited 20 0 3 Developmental_and_epileptic_encephalopathy,_57 15 low_record_burden_interpretation_limited low_record_burden_gene KCNQ1 mondo_mondo_0002441_medgen_c0022387_omim_ps220400_orphanet_90647 Jervell and Lange-Nielsen syndrome MONDO:MONDO:0002441,MedGen:C0022387,OMIM:PS220400,Orphanet:90647 12 12 1.0000 condition_record_support_limited 20 0 10 Jervell_and_Lange-Nielsen_syndrome 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 12 12 1.0000 condition_record_support_limited 20 0 10 Cardiovascular_phenotype 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ11 mondo_mondo_0011153_medgen_c2931833_omim_601820_orphanet_276580_orphanet_276603 Hyperinsulinemic hypoglycemia, familial, 2 MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603 12 12 1.0000 condition_record_support_limited 20 0 10 Hyperinsulinemic_hypoglycemia,_familial,_2 72 single_exon_hotspot_opportunity local_compact_architecture KCNJ11 mondo_mondo_0012522_medgen_c1864623_omim_610582_orphanet_99886 Diabetes mellitus, transient neonatal, 3 MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886 12 12 1.0000 condition_record_support_limited 20 0 10 Diabetes_mellitus,_transient_neonatal,_3 72 single_exon_hotspot_opportunity local_compact_architecture KCNC2 mondo_mondo_0030957_medgen_c5677002_omim_619913 Developmental and epileptic encephalopathy 103 MONDO:MONDO:0030957,MedGen:C5677002,OMIM:619913 12 12 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy_103 17 low_record_burden_interpretation_limited low_record_burden_gene KCNC1 mondo_mondo_0014521_medgen_c4015420_omim_616187_orphanet_435438 Progressive myoclonic epilepsy type 7 MONDO:MONDO:0014521,MedGen:C4015420,OMIM:616187,Orphanet:435438 12 12 1.0000 condition_record_support_limited 20 0 4 Progressive_myoclonic_epilepsy_type_7 16 low_record_burden_interpretation_limited low_record_burden_gene KCNB1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 12 12 1.0000 condition_record_support_limited 20 0 7 Intellectual_disability 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JMJD8 mondo_mondo_0014339_medgen_c5190574_omim_615768_orphanet_412057 Autosomal recessive spinocerebellar ataxia 16 MONDO:MONDO:0014339,MedGen:C5190574,OMIM:615768,Orphanet:412057 12 12 1.0000 condition_record_support_limited 20 0 6 Autosomal_recessive_spinocerebellar_ataxia_16 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INTS1 mondo_mondo_0032817_medgen_c5231414_omim_618571 Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies MONDO:MONDO:0032817,MedGen:C5231414,OMIM:618571 12 12 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_cataracts,_poor_growth,_and_dysmorphic_facies 23 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture INSR mondo_mondo_0012520_medgen_c0342278_omim_610549_orphanet_2297 Insulin-resistant diabetes mellitus AND acanthosis nigricans MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297 12 12 1.0000 condition_record_support_limited 20 0 5 Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INS mondo_mondo_0030089_medgen_c5394307_omim_618858 Diabetes mellitus, permanent neonatal 4 MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858 12 12 1.0000 condition_record_support_limited 20 0 11 Diabetes_mellitus,_permanent_neonatal_4 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPG2 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 12 12 1.0000 condition_record_support_limited 20 0 5 Retinitis_pigmentosa 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL7R condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 12 12 1.0000 condition_record_support_limited 20 12 9 not_provided|not_specified 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL6ST condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 2 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL2RG mondo_mondo_0010730_medgen_cn030319_omim_312863 Combined immunodeficiency, X-linked MONDO:MONDO:0010730,MedGen:CN030319,OMIM:312863 12 12 1.0000 condition_record_support_limited 20 0 11 Combined_immunodeficiency,_X-linked 165 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL11RA condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 4 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT27 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 5 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene IFT140 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 12 12 1.0000 condition_record_support_limited 20 0 12 Retinitis_pigmentosa 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFNAR2 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 3 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene IDS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 12 12 1.0000 condition_record_support_limited 20 0 8 Inborn_genetic_diseases 793 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ICOS mondo_mondo_0011864_medgen_c3149378_omim_607594_orphanet_1572_orphanet_695183 Immunodeficiency, common variable, 1 MONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594,Orphanet:1572,Orphanet:695183 12 12 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency,_common_variable,_1 12 low_record_burden_interpretation_limited low_record_burden_gene IAH1 mondo_mondo_0013693_medgen_c3280501_omim_614328_orphanet_294023 Inflammatory skin and bowel disease, neonatal, 1 MONDO:MONDO:0013693,MedGen:C3280501,OMIM:614328,Orphanet:294023 12 12 1.0000 condition_record_support_limited 20 0 1 Inflammatory_skin_and_bowel_disease,_neonatal,_1 12 low_record_burden_interpretation_limited low_record_burden_gene HYDIN condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 12 12 1.0000 condition_record_support_limited 20 12 0 not_provided 66 large_gene_or_donor_burden_stress_case donor_burden_stress HTRA1 mondo_mondo_0010829_medgen_c1838577_omim_600142_orphanet_199354 CARASIL syndrome MONDO:MONDO:0010829,MedGen:C1838577,OMIM:600142,Orphanet:199354 12 12 1.0000 condition_record_support_limited 20 0 9 CARASIL_syndrome 40 compact_adjacent_exon_block_opportunity local_compact_architecture HSD17B3 mondo_mondo_0005518_medgen_c0033804 Pseudohermaphroditism MONDO:MONDO:0005518,MedGen:C0033804 12 12 1.0000 condition_record_support_limited 20 0 9 Pseudohermaphroditism 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HOXD13 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 5 not_provided 32 compact_adjacent_exon_block_opportunity local_compact_architecture HOXA13 mondo_mondo_0007698_medgen_c1841679_omim_140000_orphanet_2438 Hand-foot-genital syndrome MONDO:MONDO:0007698,MedGen:C1841679,OMIM:140000,Orphanet:2438 12 12 1.0000 condition_record_support_limited 20 0 3 Hand-foot-genital_syndrome 12 low_record_burden_interpretation_limited low_record_burden_gene HNF4A human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Type 2 diabetes mellitus Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 12 12 1.0000 condition_record_support_limited 20 0 12 Type_2_diabetes_mellitus 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HK1 mondo_mondo_0032807_medgen_c5231404_omim_618547 Neurodevelopmental disorder with visual defects and brain anomalies MONDO:MONDO:0032807,MedGen:C5231404,OMIM:618547 12 12 1.0000 condition_record_support_limited 20 0 7 Neurodevelopmental_disorder_with_visual_defects_and_brain_anomalies 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HBB mondo_mondo_0016487_medgen_c0472767_orphanet_231222 Beta thalassemia intermedia MONDO:MONDO:0016487,MedGen:C0472767,Orphanet:231222 12 12 1.0000 condition_record_support_limited 20 0 12 Beta_thalassemia_intermedia 428 compact_adjacent_exon_block_opportunity local_compact_architecture H3-3B mondo_mondo_0030607_medgen_c5676906_omim_619721 Bryant-Li-Bhoj neurodevelopmental syndrome 2 MONDO:MONDO:0030607,MedGen:C5676906,OMIM:619721 12 12 1.0000 condition_record_support_limited 20 0 3 Bryant-Li-Bhoj_neurodevelopmental_syndrome_2 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture H3-3A mondo_mondo_0030606_medgen_c5676905_omim_619720 Bryant-Li-Bhoj neurodevelopmental syndrome 1 MONDO:MONDO:0030606,MedGen:C5676905,OMIM:619720 12 12 1.0000 condition_record_support_limited 20 0 9 Bryant-Li-Bhoj_neurodevelopmental_syndrome_1 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GSS condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 12 12 1.0000 condition_record_support_limited 20 12 10 not_provided 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIP1 mondo_mondo_0054739_medgen_c4540040_omim_617667 Fraser syndrome 3 MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667 12 12 1.0000 condition_record_support_limited 20 0 2 Fraser_syndrome_3 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS mondo_mondo_0020735_medgen_c1857451_omim_219080 ACTH-independent macronodular adrenal hyperplasia 1 MONDO:MONDO:0020735,MedGen:C1857451,OMIM:219080 12 12 1.0000 condition_record_support_limited 20 0 12 ACTH-independent_macronodular_adrenal_hyperplasia_1 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLIS3 mondo_mondo_0012436_medgen_c1857775_omim_610199_orphanet_79118 Neonatal diabetes mellitus with congenital hypothyroidism MONDO:MONDO:0012436,MedGen:C1857775,OMIM:610199,Orphanet:79118 12 12 1.0000 condition_record_support_limited 20 0 1 Neonatal_diabetes_mellitus_with_congenital_hypothyroidism 16 low_record_burden_interpretation_limited low_record_burden_gene GLI3 mondo_mondo_0008272_medgen_c1868111_omim_174700_orphanet_93338 Polysyndactyly 4 MONDO:MONDO:0008272,MedGen:C1868111,OMIM:174700,Orphanet:93338 12 12 1.0000 condition_record_support_limited 20 0 9 Polysyndactyly_4 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLA gla_related_disorder GLA-related disorder . 12 12 1.0000 condition_record_support_limited 20 0 12 GLA-related_disorder 1115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 12 12 1.0000 condition_record_support_limited 20 0 12 Inborn_genetic_diseases 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GGCX mondo_mondo_0012570_medgen_c1835813_omim_610842_orphanet_91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency MONDO:MONDO:0012570,MedGen:C1835813,OMIM:610842,Orphanet:91135 12 12 1.0000 condition_record_support_limited 20 0 4 Body_skin_hyperlaxity_due_to_vitamin_K-dependent_coagulation_factor_deficiency 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA4 mondo_mondo_0011938_medgen_c1842778_omim_607941_orphanet_1478 Atrial septal defect 2 MONDO:MONDO:0011938,MedGen:C1842778,OMIM:607941,Orphanet:1478 12 12 1.0000 condition_record_support_limited 20 0 5 Atrial_septal_defect_2 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PC3 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 10 not_provided 52 compact_adjacent_exon_block_opportunity local_compact_architecture FXN condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 3 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 12 12 1.0000 condition_record_support_limited 20 0 7 Intellectual_disability 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLAD1 mondo_mondo_0009703_medgen_c4310822_omim_255100 Myopathy with abnormal lipid metabolism MONDO:MONDO:0009703,MedGen:C4310822,OMIM:255100 12 12 1.0000 condition_record_support_limited 20 0 8 Myopathy_with_abnormal_lipid_metabolism 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FIG4 mondo_mondo_0012945_medgen_c2675491_omim_612577_orphanet_803 Amyotrophic lateral sclerosis type 11 MONDO:MONDO:0012945,MedGen:C2675491,OMIM:612577,Orphanet:803 12 12 1.0000 condition_record_support_limited 20 0 10 Amyotrophic_lateral_sclerosis_type_11 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGG mondo_mondo_0014452_medgen_c0272350_omim_616004_orphanet_335_orphanet_98881 Familial dysfibrinogenemia MONDO:MONDO:0014452,MedGen:C0272350,OMIM:616004,Orphanet:335,Orphanet:98881 12 12 1.0000 condition_record_support_limited 20 0 6 Familial_dysfibrinogenemia 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 fgfr3_related_disorder FGFR3-related disorder . 12 12 1.0000 condition_record_support_limited 20 0 12 FGFR3-related_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0010816_mondo_mondo_0008093_medgen_c0334082_omim_162900_orphanet_79414 Epidermal nevus Human_Phenotype_Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414 12 12 1.0000 condition_record_support_limited 20 0 12 Epidermal_nevus 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0030079_mondo_mondo_0002974_medgen_c4048328_omim_603956 Cervical cancer Human_Phenotype_Ontology:HP:0030079,MONDO:MONDO:0002974,MedGen:C4048328,OMIM:603956 12 12 1.0000 condition_record_support_limited 20 0 12 Cervical_cancer 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 mondo_mondo_0007042_medgen_c0175699_omim_101400_orphanet_794 Saethre-Chotzen syndrome MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400,Orphanet:794 12 12 1.0000 condition_record_support_limited 20 0 11 Saethre-Chotzen_syndrome 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGD4 mondo_mondo_0012250_medgen_c1836336_omim_609311_orphanet_99954 Charcot-Marie-Tooth disease type 4H MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311,Orphanet:99954 12 12 1.0000 condition_record_support_limited 20 0 8 Charcot-Marie-Tooth_disease_type_4H 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBP1 condition_not_provided condition not provided .|MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 8 See_cases|not_provided 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBN2 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 12 12 1.0000 condition_record_support_limited 20 0 6 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 122 large_gene_or_donor_burden_stress_case donor_burden_stress FANCM fancm_related_disorder FANCM-related disorder . 12 12 1.0000 condition_record_support_limited 20 0 9 FANCM-related_disorder 201 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FAN1 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 7 not_provided 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAM161A human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 12 12 1.0000 condition_record_support_limited 20 0 11 Retinal_dystrophy 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F5 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 6 not_provided 109 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture F5 mondo_mondo_0013727_medgen_c3280670_omim_614389 Pregnancy loss, recurrent, susceptibility to, 1 MONDO:MONDO:0013727,MedGen:C3280670,OMIM:614389 12 12 1.0000 condition_record_support_limited 20 0 12 Pregnancy_loss,_recurrent,_susceptibility_to,_1 109 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EXPH5 mondo_mondo_0014014_medgen_c3554367_omim_615028_orphanet_412189 Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive MONDO:MONDO:0014014,MedGen:C3554367,OMIM:615028,Orphanet:412189 12 12 1.0000 condition_record_support_limited 20 0 2 Epidermolysis_bullosa_simplex_4,_localized_or_generalized_intermediate,_autosomal_recessive 15 low_record_burden_interpretation_limited low_record_burden_gene EPHB4 ephb4_related_disorder EPHB4-related disorder . 12 12 1.0000 condition_record_support_limited 20 0 5 EPHB4-related_disorder 135 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPCAM human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 12 12 1.0000 condition_record_support_limited 20 0 3 Gastric_cancer 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EOGT mondo_mondo_0014124_medgen_c3809092_omim_615297_orphanet_974 Adams-Oliver syndrome 4 MONDO:MONDO:0014124,MedGen:C3809092,OMIM:615297,Orphanet:974 12 12 1.0000 condition_record_support_limited 20 0 2 Adams-Oliver_syndrome_4 13 low_record_burden_interpretation_limited low_record_burden_gene EMC10 mondo_mondo_0031011_medgen_c5543268_omim_619264 Neurodevelopmental disorder with dysmorphic facies and variable seizures MONDO:MONDO:0031011,MedGen:C5543268,OMIM:619264 12 12 1.0000 condition_record_support_limited 20 0 4 Neurodevelopmental_disorder_with_dysmorphic_facies_and_variable_seizures 13 low_record_burden_interpretation_limited low_record_burden_gene EGR2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 12 12 1.0000 condition_record_support_limited 20 12 9 not_provided|not_specified 18 low_record_burden_interpretation_limited low_record_burden_gene EGR2 mondo_mondo_0019011_medgen_c0751036_orphanet_65753 Charcot-Marie-Tooth disease, type I MONDO:MONDO:0019011,MedGen:C0751036,Orphanet:65753 12 12 1.0000 condition_record_support_limited 20 0 12 Charcot-Marie-Tooth_disease,_type_I 18 low_record_burden_interpretation_limited low_record_burden_gene EFTUD2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 12 12 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EDEM3 mondo_mondo_0030423_medgen_c5561971_omim_619493_orphanet_695783 Congenital disorder of glycosylation, type 2v MONDO:MONDO:0030423,MedGen:C5561971,OMIM:619493,Orphanet:695783 12 12 1.0000 condition_record_support_limited 20 0 0 Congenital_disorder_of_glycosylation,_type_2v 15 low_record_burden_interpretation_limited low_record_burden_gene EDA eda_related_disorder EDA-related disorder . 12 12 1.0000 condition_record_support_limited 20 0 9 EDA-related_disorder 276 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC1H1 human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Lissencephaly Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 12 12 1.0000 condition_record_support_limited 20 0 7 Lissencephaly 176 large_gene_or_donor_burden_stress_case donor_burden_stress DUOX2 duox2_related_disorder DUOX2-related disorder . 12 12 1.0000 condition_record_support_limited 20 0 11 DUOX2-related_disorder 239 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DPM3 mondo_mondo_0013049_medgen_c2752007_omim_612937_orphanet_263494 DPM3-congenital disorder of glycosylation MONDO:MONDO:0013049,MedGen:C2752007,OMIM:612937,Orphanet:263494 12 12 1.0000 condition_record_support_limited 20 0 2 DPM3-congenital_disorder_of_glycosylation 13 low_record_burden_interpretation_limited low_record_burden_gene DPF2 mondo_mondo_0054831_medgen_c4747954_omim_618027 Coffin-Siris syndrome 7 MONDO:MONDO:0054831,MedGen:C4747954,OMIM:618027 12 12 1.0000 condition_record_support_limited 20 0 2 Coffin-Siris_syndrome_7 17 low_record_burden_interpretation_limited low_record_burden_gene DNAJC6 mondo_mondo_0014231_medgen_c3809811_omim_615528_orphanet_391411 Juvenile onset Parkinson disease 19A MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528,Orphanet:391411 12 12 1.0000 condition_record_support_limited 20 0 3 Juvenile_onset_Parkinson_disease_19A 13 low_record_burden_interpretation_limited low_record_burden_gene DNAJC12 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 6 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAH5 respiratory_ciliopathies_including_non_cf_bronchiectasis Respiratory ciliopathies including non-CF bronchiectasis . 12 12 1.0000 condition_record_support_limited 20 0 11 Respiratory_ciliopathies_including_non-CF_bronchiectasis 1093 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH1 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 4 not_provided 139 large_gene_or_donor_burden_stress_case donor_burden_stress DNAAF2 mondo_mondo_0012918_medgen_c2675867_omim_612518_orphanet_244 Primary ciliary dyskinesia 10 MONDO:MONDO:0012918,MedGen:C2675867,OMIM:612518,Orphanet:244 12 12 1.0000 condition_record_support_limited 20 0 6 Primary_ciliary_dyskinesia_10 50 compact_adjacent_exon_block_opportunity local_compact_architecture DEGS1 mondo_mondo_0032730_medgen_c5193078_omim_618404 Leukodystrophy, hypomyelinating, 18 MONDO:MONDO:0032730,MedGen:C5193078,OMIM:618404 12 12 1.0000 condition_record_support_limited 20 0 5 Leukodystrophy,_hypomyelinating,_18 19 low_record_burden_interpretation_limited low_record_burden_gene DDX41 ddx41_related_disorder DDX41-related disorder . 12 12 1.0000 condition_record_support_limited 20 0 9 DDX41-related_disorder 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX11 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 12 12 1.0000 condition_record_support_limited 20 12 9 not_provided 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDHD2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 12 12 1.0000 condition_record_support_limited 20 12 5 not_provided 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDC condition_not_provided condition not provided .|MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 10 See_cases|not_provided 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCTN1 mondo_mondo_0008201_medgen_c1868594_omim_168605_orphanet_178509 Perry syndrome MONDO:MONDO:0008201,MedGen:C1868594,OMIM:168605,Orphanet:178509 12 12 1.0000 condition_record_support_limited 20 0 12 Perry_syndrome 14 low_record_burden_interpretation_limited low_record_burden_gene CYP7B1 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 12 12 1.0000 condition_record_support_limited 20 0 10 Hereditary_spastic_paraplegia 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP19A1 mondo_mondo_0007690_medgen_c1970109_omim_139300_orphanet_178345 Aromatase excess syndrome MONDO:MONDO:0007690,MedGen:C1970109,OMIM:139300,Orphanet:178345 12 12 1.0000 condition_record_support_limited 20 0 12 Aromatase_excess_syndrome 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 human_phenotype_ontology_hp_0030434_mondo_mondo_0007564_mesh_d018296_medgen_c0206711_omim_132600_orphanet_91414 Pilomatrixoma Human_Phenotype_Ontology:HP:0030434,MONDO:MONDO:0007564,MeSH:D018296,MedGen:C0206711,OMIM:132600,Orphanet:91414 12 12 1.0000 condition_record_support_limited 20 0 11 Pilomatrixoma 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSF3R condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 5 not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSF1R mondo_mondo_0032772_medgen_c5193117_omim_618476 Brain abnormalities, neurodegeneration, and dysosteosclerosis MONDO:MONDO:0032772,MedGen:C5193117,OMIM:618476 12 12 1.0000 condition_record_support_limited 20 0 5 Brain_abnormalities,_neurodegeneration,_and_dysosteosclerosis 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRB1 mondo_mondo_0008764_medgen_c2931258_omim_204000_orphanet_65 Leber congenital amaurosis 1 MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65 12 12 1.0000 condition_record_support_limited 20 0 8 Leber_congenital_amaurosis_1 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPAMD8 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 4 not_provided 27 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COX10 mondo_mondo_0033635_medgen_c5436682_omim_619046 Mitochondrial complex IV deficiency, nuclear type 3 MONDO:MONDO:0033635,MedGen:C5436682,OMIM:619046 12 12 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_complex_IV_deficiency,_nuclear_type_3 15 low_record_burden_interpretation_limited low_record_burden_gene COL4A5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 12 12 1.0000 condition_record_support_limited 20 0 8 Inborn_genetic_diseases 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COG4 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 6 not_provided 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLTC mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 12 12 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN3 mondo_mondo_0859187_medgen_c5561977_omim_619512 Neurodevelopmental disorder with hypotonia and brain abnormalities MONDO:MONDO:0859187,MedGen:C5561977,OMIM:619512 12 12 1.0000 condition_record_support_limited 20 0 7 Neurodevelopmental_disorder_with_hypotonia_and_brain_abnormalities 17 low_record_burden_interpretation_limited low_record_burden_gene CLCN2 mondo_mondo_0011875_medgen_c2750893_omim_607628_orphanet_307 Epilepsy, idiopathic generalized, susceptibility to, 11 MONDO:MONDO:0011875,MedGen:C2750893,OMIM:607628,Orphanet:307 12 12 1.0000 condition_record_support_limited 20 0 11 Epilepsy,_idiopathic_generalized,_susceptibility_to,_11 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLASP1 mondo_mondo_0014722_medgen_c1846059_omim_616651_orphanet_353298 Roifman syndrome MONDO:MONDO:0014722,MedGen:C1846059,OMIM:616651,Orphanet:353298 12 12 1.0000 condition_record_support_limited 20 0 12 Roifman_syndrome 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLASP1 mondo_mondo_0009191_medgen_c0796021_omim_226960_orphanet_1824 Lowry-Wood syndrome MONDO:MONDO:0009191,MedGen:C0796021,OMIM:226960,Orphanet:1824 12 12 1.0000 condition_record_support_limited 20 0 9 Lowry-Wood_syndrome 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CIT mondo_mondo_0014908_medgen_c4310723_omim_617090_orphanet_2512 Microcephaly 17, primary, autosomal recessive MONDO:MONDO:0014908,MedGen:C4310723,OMIM:617090,Orphanet:2512 12 12 1.0000 condition_record_support_limited 20 0 3 Microcephaly_17,_primary,_autosomal_recessive 25 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CIB2 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 3 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHEK2 chek2_related_disorder CHEK2-related disorder . 12 12 1.0000 condition_record_support_limited 20 0 12 CHEK2-related_disorder 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHD5 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 3 not_provided 39 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CEP290 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 12 12 1.0000 condition_record_support_limited 20 0 11 Retinitis_pigmentosa 949 large_gene_or_donor_burden_stress_case donor_burden_stress CDKN1C mondo_mondo_0013873_medgen_c1846009_omim_614732_orphanet_85173 IMAGe syndrome MONDO:MONDO:0013873,MedGen:C1846009,OMIM:614732,Orphanet:85173 12 12 1.0000 condition_record_support_limited 20 0 7 IMAGe_syndrome 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH3 mondo_mondo_0011107_medgen_c1832162_omim_601553_orphanet_1573 Congenital hypotrichosis with juvenile macular dystrophy MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553,Orphanet:1573 12 12 1.0000 condition_record_support_limited 20 0 10 Congenital_hypotrichosis_with_juvenile_macular_dystrophy 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH1 human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Endometrial carcinoma Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 12 12 1.0000 condition_record_support_limited 20 0 12 Endometrial_carcinoma 622 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CDC42BPB mondo_mondo_0859239_medgen_c5677022_omim_619841 Chilton-Okur-Chung neurodevelopmental syndrome MONDO:MONDO:0859239,MedGen:C5677022,OMIM:619841 12 12 1.0000 condition_record_support_limited 20 0 6 Chilton-Okur-Chung_neurodevelopmental_syndrome 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD36 condition_not_provided condition not provided .|MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 6 See_cases|not_provided 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD2AP mondo_mondo_0011917_medgen_c1842982_omim_607832_orphanet_656 Focal segmental glomerulosclerosis 3, susceptibility to MONDO:MONDO:0011917,MedGen:C1842982,OMIM:607832,Orphanet:656 12 12 1.0000 condition_record_support_limited 20 0 3 Focal_segmental_glomerulosclerosis_3,_susceptibility_to 17 low_record_burden_interpretation_limited low_record_burden_gene CAVIN1 mondo_mondo_0013225_medgen_c2750069_omim_613327_orphanet_228429 Congenital generalized lipodystrophy type 4 MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327,Orphanet:228429 12 12 1.0000 condition_record_support_limited 20 0 1 Congenital_generalized_lipodystrophy_type_4 16 low_record_burden_interpretation_limited low_record_burden_gene CAST condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 4 not_provided 51 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture CAPN3 capn3_related_disorder CAPN3-related disorder MedGen:CN239245 12 12 1.0000 condition_record_support_limited 20 0 12 CAPN3-related_disorder 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAMK2B condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 8 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene CA4 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 0 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene C7 mondo_mondo_0012412_medgen_c1864694_omim_610102 Complement component 7 deficiency MONDO:MONDO:0012412,MedGen:C1864694,OMIM:610102 12 12 1.0000 condition_record_support_limited 20 0 8 Complement_component_7_deficiency 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C19ORF12 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 9 not_provided 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRD4 mondo_mondo_0957921_medgen_c5882712_omim_620568 Cornelia de Lange syndrome 6 MONDO:MONDO:0957921,MedGen:C5882712,OMIM:620568 12 12 1.0000 condition_record_support_limited 20 0 1 Cornelia_de_Lange_syndrome_6 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF mondo_mondo_0013380_medgen_c3150971_omim_613707_orphanet_500 LEOPARD syndrome 3 MONDO:MONDO:0013380,MedGen:C3150971,OMIM:613707,Orphanet:500 12 12 1.0000 condition_record_support_limited 20 0 12 LEOPARD_syndrome_3 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICRA condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 12 12 1.0000 condition_record_support_limited 20 12 0 not_provided|not_specified 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BEST1 mondo_mondo_0013175_medgen_c2750789_omim_613194_orphanet_791 Retinitis pigmentosa 50 MONDO:MONDO:0013175,MedGen:C2750789,OMIM:613194,Orphanet:791 12 12 1.0000 condition_record_support_limited 20 0 12 Retinitis_pigmentosa_50 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCAS3 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 12 12 1.0000 condition_record_support_limited 20 0 5 Global_developmental_delay 16 low_record_burden_interpretation_limited low_record_burden_gene BBS10 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 12 12 1.0000 condition_record_support_limited 20 0 11 Retinal_dystrophy 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2A1 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 10 not_provided 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 12 12 1.0000 condition_record_support_limited 20 0 11 Inborn_genetic_diseases 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 atp1a3_related_disorder ATP1A3-related disorder . 12 12 1.0000 condition_record_support_limited 20 0 9 ATP1A3-related_disorder 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A2 mondo_mondo_0007087_medgen_c3549447_omim_104290_orphanet_2131 Alternating hemiplegia of childhood 1 MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131 12 12 1.0000 condition_record_support_limited 20 0 11 Alternating_hemiplegia_of_childhood_1 134 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATM human_phenotype_ontology_hp_0011442_medgen_c4023354 Abnormal central motor function Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 12 12 1.0000 condition_record_support_limited 20 0 11 Abnormal_central_motor_function 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ASPA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 12 12 1.0000 condition_record_support_limited 20 0 10 Inborn_genetic_diseases 182 compact_adjacent_exon_block_opportunity local_compact_architecture ASCC3 mondo_mondo_0958204_medgen_c5882758_omim_620700 Intellectual developmental disorder, autosomal recessive 81 MONDO:MONDO:0958204,MedGen:C5882758,OMIM:620700 12 12 1.0000 condition_record_support_limited 20 0 1 Intellectual_developmental_disorder,_autosomal_recessive_81 13 low_record_burden_interpretation_limited low_record_burden_gene ARFGEF2 mondo_mondo_0011966_medgen_c1842563_omim_608097_orphanet_2149 Periventricular heterotopia with microcephaly, autosomal recessive MONDO:MONDO:0011966,MedGen:C1842563,OMIM:608097,Orphanet:2149 12 12 1.0000 condition_record_support_limited 20 0 0 Periventricular_heterotopia_with_microcephaly,_autosomal_recessive 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOB mondo_mondo_0017774_medgen_c0020597_orphanet_31154 Hypobetalipoproteinemia MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154 12 12 1.0000 condition_record_support_limited 20 0 8 Hypobetalipoproteinemia 248 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture APOB cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 12 12 1.0000 condition_record_support_limited 20 0 9 Cardiovascular_phenotype 248 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture APOA1 condition_not_provided condition not provided .|MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 6 .|not_provided 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP5Z1 macular_dystrophy_with_or_without_extraocular_features Macular dystrophy with or without extraocular features . 12 12 1.0000 condition_record_support_limited 20 0 7 Macular_dystrophy_with_or_without_extraocular_features 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALX4 mondo_mondo_0012309_medgen_c1865044_omim_609597_orphanet_60015 Parietal foramina 2 MONDO:MONDO:0012309,MedGen:C1865044,OMIM:609597,Orphanet:60015 12 12 1.0000 condition_record_support_limited 20 0 1 Parietal_foramina_2 21 compact_adjacent_exon_block_opportunity local_compact_architecture ALPL mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 12 12 1.0000 condition_record_support_limited 20 0 12 Inborn_genetic_diseases 532 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGPAT2 condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 11 not_provided 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGO2 mondo_mondo_0030897_medgen_c5436892_omim_619149 Lessel-Kreienkamp syndrome MONDO:MONDO:0030897,MedGen:C5436892,OMIM:619149 12 12 1.0000 condition_record_support_limited 20 0 5 Lessel-Kreienkamp_syndrome 17 low_record_burden_interpretation_limited low_record_burden_gene ADAMTS17 mondo_mondo_0013176_medgen_c2750787_omim_613195_orphanet_363992 Weill-Marchesani 4 syndrome, recessive MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195,Orphanet:363992 12 12 1.0000 condition_record_support_limited 20 0 3 Weill-Marchesani_4_syndrome,_recessive 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACVRL1 mondo_mondo_0024533_medgen_c4552070_omim_178600_orphanet_422 Pulmonary hypertension, primary, 1 MONDO:MONDO:0024533,MedGen:C4552070,OMIM:178600,Orphanet:422 12 12 1.0000 condition_record_support_limited 20 0 10 Pulmonary_hypertension,_primary,_1 546 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTL6B condition_not_provided condition not provided MedGen:C3661900 12 12 1.0000 condition_record_support_limited 20 12 4 not_provided 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTC1 mondo_mondo_0012799_medgen_c2677506_omim_612098 Hypertrophic cardiomyopathy 11 MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098 12 12 1.0000 condition_record_support_limited 20 0 12 Hypertrophic_cardiomyopathy_11 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTC1 mondo_mondo_0013261_medgen_c3150681_omim_613424_orphanet_154_orphanet_54260 Dilated cardiomyopathy 1R MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260 12 12 1.0000 condition_record_support_limited 20 0 12 Dilated_cardiomyopathy_1R 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 mondo_mondo_0014800_medgen_c4225181_omim_616852_orphanet_447977 Progressive scapulohumeroperoneal distal myopathy MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852,Orphanet:447977 12 12 1.0000 condition_record_support_limited 20 0 10 Progressive_scapulohumeroperoneal_distal_myopathy 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACAN mondo_mondo_0012019_medgen_c1842149_omim_608361_orphanet_93283 Spondyloepiphyseal dysplasia, Kimberley type MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283 12 12 1.0000 condition_record_support_limited 20 0 9 Spondyloepiphyseal_dysplasia,_Kimberley_type 203 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AARS1 mondo_mondo_0014593_medgen_c4225361_omim_616339_orphanet_442835 Developmental and epileptic encephalopathy, 29 MONDO:MONDO:0014593,MedGen:C4225361,OMIM:616339,Orphanet:442835 12 12 1.0000 condition_record_support_limited 20 0 3 Developmental_and_epileptic_encephalopathy,_29 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF335 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 2 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF142 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 6 not_provided 43 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZMPSTE24 mondo_mondo_0012074_medgen_c1837756_omim_608612_orphanet_2457_orphanet_90154 Mandibuloacral dysplasia with type B lipodystrophy MONDO:MONDO:0012074,MedGen:C1837756,OMIM:608612,Orphanet:2457,Orphanet:90154 11 11 1.0000 condition_record_support_limited 20 0 11 Mandibuloacral_dysplasia_with_type_B_lipodystrophy 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZIC2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 1 not_provided 51 compact_adjacent_exon_block_opportunity local_compact_architecture ZFYVE26 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 11 11 1.0000 condition_record_support_limited 20 0 10 Retinal_dystrophy 454 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZDHHC24 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 11 11 1.0000 condition_record_support_limited 20 0 8 Retinal_dystrophy 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YY1AP1 mondo_mondo_0011243_medgen_c1865267_omim_602531_orphanet_79094 Grange syndrome MONDO:MONDO:0011243,MedGen:C1865267,OMIM:602531,Orphanet:79094 11 11 1.0000 condition_record_support_limited 20 0 2 Grange_syndrome 15 low_record_burden_interpretation_limited low_record_burden_gene XRCC4 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 7 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XIAP condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 6 not_provided 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDFY3 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 11 11 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_delay 84 large_gene_or_donor_burden_stress_case donor_burden_stress VWA1 mondo_mondo_0030977_medgen_c5543119_omim_619216 Neuronopathy, distal hereditary motor, autosomal recessive 7 MONDO:MONDO:0030977,MedGen:C5543119,OMIM:619216 11 11 1.0000 condition_record_support_limited 20 0 6 Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7 17 low_record_burden_interpretation_limited low_record_burden_gene VRK1 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 10 not_provided 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VHL mondo_mondo_0007763_medgen_cn074294_omim_144700_orphanet_422526 Nonpapillary renal cell carcinoma MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526 11 11 1.0000 condition_record_support_limited 20 0 11 Nonpapillary_renal_cell_carcinoma 432 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control VCP mondo_mondo_0008178_medgen_c4551951_omim_167320 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320 11 11 1.0000 condition_record_support_limited 20 0 9 Inclusion_body_myopathy_with_Paget_disease_of_bone_and_frontotemporal_dementia_type_1 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UPB1 mondo_mondo_0013164_medgen_c1291512_omim_613161_orphanet_65287 Deficiency of beta-ureidopropionase MONDO:MONDO:0013164,MedGen:C1291512,OMIM:613161,Orphanet:65287 11 11 1.0000 condition_record_support_limited 20 0 6 Deficiency_of_beta-ureidopropionase 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UNC93B1 mondo_mondo_0024563_medgen_c2750180_omim_610551_orphanet_1930 Herpes simplex encephalitis, susceptibility to, 1 MONDO:MONDO:0024563,MedGen:C2750180,OMIM:610551,Orphanet:1930 11 11 1.0000 condition_record_support_limited 20 0 0 Herpes_simplex_encephalitis,_susceptibility_to,_1 14 low_record_burden_interpretation_limited low_record_burden_gene UGDH mondo_mondo_0032918_medgen_c5394081_omim_618792 Developmental and epileptic encephalopathy, 84 MONDO:MONDO:0032918,MedGen:C5394081,OMIM:618792 11 11 1.0000 condition_record_support_limited 20 0 7 Developmental_and_epileptic_encephalopathy,_84 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TULP1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 11 11 1.0000 condition_record_support_limited 20 0 7 Retinitis_pigmentosa 151 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTLL5 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 11 11 1.0000 condition_record_support_limited 20 0 8 Retinal_dystrophy 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTLL5 mondo_mondo_0014372_medgen_c4014501_omim_615860_orphanet_1872 Cone-rod dystrophy 19 MONDO:MONDO:0014372,MedGen:C4014501,OMIM:615860,Orphanet:1872 11 11 1.0000 condition_record_support_limited 20 0 9 Cone-rod_dystrophy_19 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC14 mondo_mondo_0013434_medgen_c3151136_omim_613807_orphanet_244 Primary ciliary dyskinesia 14 MONDO:MONDO:0013434,MedGen:C3151136,OMIM:613807,Orphanet:244 11 11 1.0000 condition_record_support_limited 20 0 7 Primary_ciliary_dyskinesia_14 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPC6 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 5 not_provided 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRMT1 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 4 not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TREX1 human_phenotype_ontology_hp_0002725_mondo_mondo_0007915_medgen_c0024141_omim_152700_orphanet_536 Systemic lupus erythematosus Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536 11 11 1.0000 condition_record_support_limited 20 0 10 Systemic_lupus_erythematosus 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TREM2 mondo_mondo_0020750_medgen_c4748657_omim_618193 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 MONDO:MONDO:0020750,MedGen:C4748657,OMIM:618193 11 11 1.0000 condition_record_support_limited 20 0 7 Polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy_2 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAIP condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 1 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene TP53 human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Rhabdomyosarcoma Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 11 11 1.0000 condition_record_support_limited 20 0 11 Rhabdomyosarcoma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TOGARAM1 mondo_mondo_0030933_medgen_c5543064_omim_619185 Joubert syndrome 37 MONDO:MONDO:0030933,MedGen:C5543064,OMIM:619185 11 11 1.0000 condition_record_support_limited 20 0 4 Joubert_syndrome_37 14 low_record_burden_interpretation_limited low_record_burden_gene TNNI3 mondo_mondo_0013211_medgen_c2750091_omim_613286_orphanet_154 Dilated cardiomyopathy 1FF MONDO:MONDO:0013211,MedGen:C2750091,OMIM:613286,Orphanet:154 11 11 1.0000 condition_record_support_limited 20 0 7 Dilated_cardiomyopathy_1FF 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNI2 mondo_mondo_0020820_medgen_c5193014_omim_601680_orphanet_1147 Distal arthrogryposis type 2B1 MONDO:MONDO:0020820,MedGen:C5193014,OMIM:601680,Orphanet:1147 11 11 1.0000 condition_record_support_limited 20 0 4 Distal_arthrogryposis_type_2B1 13 low_record_burden_interpretation_limited low_record_burden_gene TMCO1 mondo_mondo_0800436_medgen_c5677021_omim_213980_orphanet_1394 Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 MONDO:MONDO:0800436,MedGen:C5677021,OMIM:213980,Orphanet:1394 11 11 1.0000 condition_record_support_limited 20 0 4 Craniofacial_dysmorphism,_skeletal_anomalies,_and_impaired_intellectual_development_1 16 low_record_burden_interpretation_limited low_record_burden_gene THRA mondo_mondo_0013757_medgen_c3280817_omim_614450_orphanet_97927 Congenital nongoitrous hypothyroidism 6 MONDO:MONDO:0013757,MedGen:C3280817,OMIM:614450,Orphanet:97927 11 11 1.0000 condition_record_support_limited 20 0 2 Congenital_nongoitrous_hypothyroidism_6 19 low_record_burden_interpretation_limited low_record_burden_gene TELO2 mondo_mondo_0014848_medgen_c4310778_omim_616954_orphanet_488642 TELO2-related intellectual disability-neurodevelopmental disorder MONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954,Orphanet:488642 11 11 1.0000 condition_record_support_limited 20 0 3 TELO2-related_intellectual_disability-neurodevelopmental_disorder 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCEAL1 mondo_mondo_0859085_medgen_c5774179_omim_301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked MONDO:MONDO:0859085,MedGen:C5774179,OMIM:301094 11 11 1.0000 condition_record_support_limited 20 0 5 Neurodevelopmental_disorder_with_gait_disturbance,_dysmorphic_facies,_and_behavioral_abnormalities,_X-linked 12 low_record_burden_interpretation_limited low_record_burden_gene TARDBP condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 10 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAF1 human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 11 11 1.0000 condition_record_support_limited 20 0 11 Heart,_malformation_of 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TACSTD2 mondo_mondo_0008777_medgen_c0339273_omim_204870_orphanet_98957 Gelatinous droplike corneal dystrophy MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870,Orphanet:98957 11 11 1.0000 condition_record_support_limited 20 0 0 Gelatinous_droplike_corneal_dystrophy 11 low_record_burden_interpretation_limited low_record_burden_gene SYNGAP1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 11 11 1.0000 condition_record_support_limited 20 0 7 Intellectual_disability 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STS mondo_mondo_0010622_medgen_c0079588_omim_308100_orphanet_461 X-linked ichthyosis with steryl-sulfatase deficiency MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100,Orphanet:461 11 11 1.0000 condition_record_support_limited 20 0 1 X-linked_ichthyosis_with_steryl-sulfatase_deficiency 14 low_record_burden_interpretation_limited low_record_burden_gene STRA6 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 7 not_provided 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STIM1 mondo_mondo_0024531_medgen_c4011726_omim_160565 Myopathy, tubular aggregate, 1 MONDO:MONDO:0024531,MedGen:C4011726,OMIM:160565 11 11 1.0000 condition_record_support_limited 20 0 5 Myopathy,_tubular_aggregate,_1 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SRFBP1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 11 11 1.0000 condition_record_support_limited 20 0 7 Cardiovascular_phenotype 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SRCAP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 11 11 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 111 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPRED1 mondo_mondo_0020297_medgen_c5681679_orphanet_98733 Noonan syndrome and Noonan-related syndrome MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 11 11 1.0000 condition_record_support_limited 20 0 6 Noonan_syndrome_and_Noonan-related_syndrome 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPINT2 mondo_mondo_0010036_medgen_c5441927_omim_270420_orphanet_103908 Congenital secretory sodium diarrhea 3 MONDO:MONDO:0010036,MedGen:C5441927,OMIM:270420,Orphanet:103908 11 11 1.0000 condition_record_support_limited 20 0 3 Congenital_secretory_sodium_diarrhea_3 17 low_record_burden_interpretation_limited low_record_burden_gene SPATA7 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 10 not_provided 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPAST spast_related_disorder SPAST-related disorder . 11 11 1.0000 condition_record_support_limited 20 0 9 SPAST-related_disorder 615 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOS2 mondo_mondo_0014691_medgen_c4225282_omim_616559_orphanet_648 Noonan syndrome 9 MONDO:MONDO:0014691,MedGen:C4225282,OMIM:616559,Orphanet:648 11 11 1.0000 condition_record_support_limited 20 0 7 Noonan_syndrome_9 12 low_record_burden_interpretation_limited low_record_burden_gene SMARCE1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 4 not_provided 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCB1 mondo_mondo_0024517_medgen_c4048809_omim_162091_orphanet_93921 SMARCB1-related schwannomatosis MONDO:MONDO:0024517,MedGen:C4048809,OMIM:162091,Orphanet:93921 11 11 1.0000 condition_record_support_limited 20 0 5 SMARCB1-related_schwannomatosis 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD4 mondo_mondo_0007688_medgen_c0796081_omim_139210_orphanet_2588 Myhre syndrome MONDO:MONDO:0007688,MedGen:C0796081,OMIM:139210,Orphanet:2588 11 11 1.0000 condition_record_support_limited 20 0 10 Myhre_syndrome 300 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SLURP1 mondo_mondo_0009552_medgen_c0025221_omim_248300_orphanet_87503 Acroerythrokeratoderma MONDO:MONDO:0009552,MedGen:C0025221,OMIM:248300,Orphanet:87503 11 11 1.0000 condition_record_support_limited 20 0 4 Acroerythrokeratoderma 14 low_record_burden_interpretation_limited low_record_burden_gene SLC9A3 mondo_mondo_0014808_medgen_c5441928_omim_616868_orphanet_103908 Congenital secretory sodium diarrhea 8 MONDO:MONDO:0014808,MedGen:C5441928,OMIM:616868,Orphanet:103908 11 11 1.0000 condition_record_support_limited 20 0 2 Congenital_secretory_sodium_diarrhea_8 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A9 mondo_mondo_0015010_medgen_c4310943_omim_617301_orphanet_289863 Atypical glycine encephalopathy MONDO:MONDO:0015010,MedGen:C4310943,OMIM:617301,Orphanet:289863 11 11 1.0000 condition_record_support_limited 20 0 0 Atypical_glycine_encephalopathy 12 low_record_burden_interpretation_limited low_record_burden_gene SLC5A7 mondo_mondo_0008024_medgen_c1834703_omim_158580_orphanet_139589 Neuronopathy, distal hereditary motor, type 7A MONDO:MONDO:0008024,MedGen:C1834703,OMIM:158580,Orphanet:139589 11 11 1.0000 condition_record_support_limited 20 0 9 Neuronopathy,_distal_hereditary_motor,_type_7A 19 low_record_burden_interpretation_limited low_record_burden_gene SLC5A6 mondo_mondo_0033546_medgen_c5436520_omim_618973_orphanet_521268 Neurodegeneration, infantile-onset, biotin-responsive MONDO:MONDO:0033546,MedGen:C5436520,OMIM:618973,Orphanet:521268 11 11 1.0000 condition_record_support_limited 20 0 4 Neurodegeneration,_infantile-onset,_biotin-responsive 13 low_record_burden_interpretation_limited low_record_burden_gene SLC4A10 mondo_mondo_0958278_medgen_c5935589_omim_620746_orphanet_664430 Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities MONDO:MONDO:0958278,MedGen:C5935589,OMIM:620746,Orphanet:664430 11 11 1.0000 condition_record_support_limited 20 0 3 Neurodevelopmental_disorder_with_hypotonia_and_characteristic_brain_abnormalities 13 low_record_burden_interpretation_limited low_record_burden_gene SLC45A2 slc45a2_related_disorder SLC45A2-related disorder . 11 11 1.0000 condition_record_support_limited 20 0 7 SLC45A2-related_disorder 112 compact_adjacent_exon_block_opportunity local_compact_architecture SLC39A14 mondo_mondo_0014864_medgen_c4310765_omim_617013_orphanet_521406 Hypermanganesemia with dystonia 2 MONDO:MONDO:0014864,MedGen:C4310765,OMIM:617013,Orphanet:521406 11 11 1.0000 condition_record_support_limited 20 0 1 Hypermanganesemia_with_dystonia_2 13 low_record_burden_interpretation_limited low_record_burden_gene SLC34A2 mondo_mondo_0009928_medgen_c0155912_omim_265100_orphanet_60025 PULMONARY ALVEOLAR MICROLITHIASIS MONDO:MONDO:0009928,MedGen:C0155912,OMIM:265100,Orphanet:60025 11 11 1.0000 condition_record_support_limited 20 0 0 PULMONARY_ALVEOLAR_MICROLITHIASIS 19 low_record_burden_interpretation_limited low_record_burden_gene SLC2A1 mondo_mondo_0013919_medgen_c3553859_omim_614847 Epilepsy, idiopathic generalized, susceptibility to, 12 MONDO:MONDO:0013919,MedGen:C3553859,OMIM:614847 11 11 1.0000 condition_record_support_limited 20 0 10 Epilepsy,_idiopathic_generalized,_susceptibility_to,_12 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC29A3 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 10 not_provided 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A12 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 0 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC24A1 mondo_mondo_0013450_medgen_c3151193_omim_613830_orphanet_215 Congenital stationary night blindness 1D MONDO:MONDO:0013450,MedGen:C3151193,OMIM:613830,Orphanet:215 11 11 1.0000 condition_record_support_limited 20 0 5 Congenital_stationary_night_blindness_1D 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC19A1 mondo_mondo_0800166_medgen_c1849409_omim_ps267750_orphanet_1571 Knobloch syndrome MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571 11 11 1.0000 condition_record_support_limited 20 0 7 Knobloch_syndrome 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC13A5 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 7 not_provided 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A3 mondo_mondo_0015231_medgen_c0004775_omim_ps601678_orphanet_112 Bartter syndrome MONDO:MONDO:0015231,MedGen:C0004775,OMIM:PS601678,Orphanet:112 11 11 1.0000 condition_record_support_limited 20 0 11 Bartter_syndrome 453 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SIX1 mondo_mondo_0011519_medgen_c1854594_omim_605192_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 23 MONDO:MONDO:0011519,MedGen:C1854594,OMIM:605192,Orphanet:90635 11 11 1.0000 condition_record_support_limited 20 0 9 Autosomal_dominant_nonsyndromic_hearing_loss_23 25 compact_adjacent_exon_block_opportunity local_compact_architecture SGSH mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 11 11 1.0000 condition_record_support_limited 20 0 11 Inborn_genetic_diseases 210 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SET condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 4 not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 11 11 1.0000 condition_record_support_limited 20 11 10 not_provided|not_specified 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDCCAG8 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 11 11 1.0000 condition_record_support_limited 20 0 8 Bardet-Biedl_syndrome 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN2A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 11 11 1.0000 condition_record_support_limited 20 0 8 Intellectual_disability 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SACS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 11 11 1.0000 condition_record_support_limited 20 0 9 Inborn_genetic_diseases 990 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RUNX1 runx1_related_disorder RUNX1-related disorder . 11 11 1.0000 condition_record_support_limited 20 0 11 RUNX1-related_disorder 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RSPO4 mondo_mondo_0008798_medgen_c3277900_omim_206800_orphanet_79143_orphanet_94150 Nonsyndromic congenital nail disorder 4 MONDO:MONDO:0008798,MedGen:C3277900,OMIM:206800,Orphanet:79143,Orphanet:94150 11 11 1.0000 condition_record_support_limited 20 0 1 Nonsyndromic_congenital_nail_disorder_4 12 low_record_burden_interpretation_limited low_record_burden_gene RS1 human_phenotype_ontology_hp_0030502_mondo_mondo_0004579_medgen_c0152439 Retinoschisis Human_Phenotype_Ontology:HP:0030502,MONDO:MONDO:0004579,MedGen:C0152439 11 11 1.0000 condition_record_support_limited 20 0 9 Retinoschisis 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS7 mondo_mondo_0012939_medgen_c2675511_omim_612563_orphanet_124 Diamond-Blackfan anemia 8 MONDO:MONDO:0012939,MedGen:C2675511,OMIM:612563,Orphanet:124 11 11 1.0000 condition_record_support_limited 20 0 0 Diamond-Blackfan_anemia_8 12 low_record_burden_interpretation_limited low_record_burden_gene RNF213 mondo_mondo_0011784_medgen_c1846689_omim_607151_orphanet_2573 Moyamoya disease 2 MONDO:MONDO:0011784,MedGen:C1846689,OMIM:607151,Orphanet:2573 11 11 1.0000 condition_record_support_limited 20 0 2 Moyamoya_disease_2 22 large_gene_or_donor_burden_stress_case donor_burden_stress RNF17 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 3 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNF168 mondo_mondo_0012764_medgen_c2677792_omim_611943_orphanet_420741 RIDDLE syndrome MONDO:MONDO:0012764,MedGen:C2677792,OMIM:611943,Orphanet:420741 11 11 1.0000 condition_record_support_limited 20 0 6 RIDDLE_syndrome 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLIG1 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 11 11 1.0000 condition_record_support_limited 20 0 11 Leber_congenital_amaurosis 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLIG1 mondo_mondo_0012432_medgen_c1857780_omim_610188_orphanet_2318 Joubert syndrome 5 MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318 11 11 1.0000 condition_record_support_limited 20 0 11 Joubert_syndrome_5 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLBP1 human_phenotype_ontology_hp_0030642_mondo_mondo_0007639_medgen_c0311338_omim_136880_orphanet_227796_orphanet_52427 Pigmentary retinal dystrophy Human_Phenotype_Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880,Orphanet:227796,Orphanet:52427 11 11 1.0000 condition_record_support_limited 20 0 11 Pigmentary_retinal_dystrophy 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIT1 rit1_related_disorder RIT1-related disorder . 11 11 1.0000 condition_record_support_limited 20 0 10 RIT1-related_disorder 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RHOBTB2 condition_not_provided condition not provided .|MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 8 See_cases|not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene RHOBTB2 mondo_mondo_0033373_medgen_c4693899_omim_618004 Developmental and epileptic encephalopathy, 64 MONDO:MONDO:0033373,MedGen:C4693899,OMIM:618004 11 11 1.0000 condition_record_support_limited 20 0 7 Developmental_and_epileptic_encephalopathy,_64 15 low_record_burden_interpretation_limited low_record_burden_gene RFC4 mondo_mondo_0975848_medgen_c5975521_omim_621010 Morimoto-Ryu-Malicdan neuromuscular syndrome MONDO:MONDO:0975848,MedGen:C5975521,OMIM:621010 11 11 1.0000 condition_record_support_limited 20 0 1 Morimoto-Ryu-Malicdan_neuromuscular_syndrome 11 low_record_burden_interpretation_limited low_record_burden_gene RBM8A mondo_mondo_0010121_mesh_c536940_medgen_c0175703_omim_274000_orphanet_3320 Radial aplasia-thrombocytopenia syndrome MONDO:MONDO:0010121,MeSH:C536940,MedGen:C0175703,OMIM:274000,Orphanet:3320 11 11 1.0000 condition_record_support_limited 20 0 1 Radial_aplasia-thrombocytopenia_syndrome 11 low_record_burden_interpretation_limited low_record_burden_gene RBM20 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 8 not_provided|not_specified 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RASGRP2 mondo_mondo_0014386_medgen_c4014584_omim_615888_orphanet_420566 Platelet-type bleeding disorder 18 MONDO:MONDO:0014386,MedGen:C4014584,OMIM:615888,Orphanet:420566 11 11 1.0000 condition_record_support_limited 20 0 3 Platelet-type_bleeding_disorder_18 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RASA1 rasa1_related_disorder RASA1-related disorder . 11 11 1.0000 condition_record_support_limited 20 0 5 RASA1-related_disorder 285 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD51D human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 11 11 1.0000 condition_record_support_limited 20 0 6 Gastric_cancer 245 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control QARS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 7 not_provided 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PURA human_phenotype_ontology_hp_0001319_human_phenotype_ontology_hp_0008976_medgen_c2267233 Neonatal hypotonia Human_Phenotype_Ontology:HP:0001319,Human_Phenotype_Ontology:HP:0008976,MedGen:C2267233 11 11 1.0000 condition_record_support_limited 20 0 11 Neonatal_hypotonia 218 single_exon_hotspot_opportunity local_compact_architecture PURA human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 11 11 1.0000 condition_record_support_limited 20 0 11 Global_developmental_delay 218 single_exon_hotspot_opportunity local_compact_architecture PURA human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 11 11 1.0000 condition_record_support_limited 20 0 11 Delayed_speech_and_language_development 218 single_exon_hotspot_opportunity local_compact_architecture PTH1R mondo_mondo_0007982_medgen_c0265295_omim_156400_orphanet_33067 Metaphyseal chondrodysplasia, Jansen type MONDO:MONDO:0007982,MedGen:C0265295,OMIM:156400,Orphanet:33067 11 11 1.0000 condition_record_support_limited 20 0 7 Metaphyseal_chondrodysplasia,_Jansen_type 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTCH1 mondo_mondo_0011556_medgen_c2751544_omim_605462 Basal cell carcinoma, susceptibility to, 1 MONDO:MONDO:0011556,MedGen:C2751544,OMIM:605462 11 11 1.0000 condition_record_support_limited 20 0 8 Basal_cell_carcinoma,_susceptibility_to,_1 736 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSMD12 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 2 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSAP condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 8 not_provided 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPS1 mondo_mondo_0010395_medgen_c1970827_omim_300661_orphanet_3222 Phosphoribosylpyrophosphate synthetase superactivity MONDO:MONDO:0010395,MedGen:C1970827,OMIM:300661,Orphanet:3222 11 11 1.0000 condition_record_support_limited 20 0 3 Phosphoribosylpyrophosphate_synthetase_superactivity 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROM1 mondo_mondo_0011957_medgen_c4749334_omim_608051_orphanet_319640 Retinal macular dystrophy type 2 MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orphanet:319640 11 11 1.0000 condition_record_support_limited 20 0 9 Retinal_macular_dystrophy_type_2 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROM1 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 11 11 1.0000 condition_record_support_limited 20 0 9 Cone-rod_dystrophy 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PREPL condition_not_provided condition not provided .|MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 7 See_cases|not_provided 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPFIA3 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 6 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene POGZ human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 11 11 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA1 mondo_mondo_0017778_medgen_c5848247_orphanet_313 Lamellar ichthyosis MONDO:MONDO:0017778,MedGen:C5848247,Orphanet:313 11 11 1.0000 condition_record_support_limited 20 0 10 Lamellar_ichthyosis 48 compact_adjacent_exon_block_opportunity local_compact_architecture PMP22 mondo_mondo_0007311_medgen_c3495591_omim_118300_orphanet_90658 Charcot-Marie-Tooth disease type 1E MONDO:MONDO:0007311,MedGen:C3495591,OMIM:118300,Orphanet:90658 11 11 1.0000 condition_record_support_limited 20 0 10 Charcot-Marie-Tooth_disease_type_1E 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLPBP mondo_mondo_0015005_medgen_c4310632_omim_617290 Epilepsy, early-onset, vitamin B6-dependent MONDO:MONDO:0015005,MedGen:C4310632,OMIM:617290 11 11 1.0000 condition_record_support_limited 20 0 7 Epilepsy,_early-onset,_vitamin_B6-dependent 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLCZ1 mondo_mondo_0014970_medgen_c4310666_omim_617214 Spermatogenic failure 17 MONDO:MONDO:0014970,MedGen:C4310666,OMIM:617214 11 11 1.0000 condition_record_support_limited 20 0 1 Spermatogenic_failure_17 13 low_record_burden_interpretation_limited low_record_burden_gene PLAA mondo_mondo_0060502_medgen_c4479631_omim_617527_orphanet_521426 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies MONDO:MONDO:0060502,MedGen:C4479631,OMIM:617527,Orphanet:521426 11 11 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_progressive_microcephaly,_spasticity,_and_brain_anomalies 13 low_record_burden_interpretation_limited low_record_burden_gene PKDCC mondo_mondo_0032935_medgen_c5394173_omim_618821 Rhizomelic limb shortening with dysmorphic features MONDO:MONDO:0032935,MedGen:C5394173,OMIM:618821 11 11 1.0000 condition_record_support_limited 20 0 6 Rhizomelic_limb_shortening_with_dysmorphic_features 20 compact_adjacent_exon_block_opportunity local_compact_architecture PIK3R1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 5 See_cases|not_provided|not_specified 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Abnormal cardiovascular system morphology Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 11 11 1.0000 condition_record_support_limited 20 0 11 Abnormal_cardiovascular_system_morphology 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3C2G mondo_mondo_0014970_medgen_c4310666_omim_617214 Spermatogenic failure 17 MONDO:MONDO:0014970,MedGen:C4310666,OMIM:617214 11 11 1.0000 condition_record_support_limited 20 0 1 Spermatogenic_failure_17 14 low_record_burden_interpretation_limited low_record_burden_gene PIGA mondo_mondo_0010438_medgen_c3806670_omim_300818_orphanet_447 Paroxysmal nocturnal hemoglobinuria 1 MONDO:MONDO:0010438,MedGen:C3806670,OMIM:300818,Orphanet:447 11 11 1.0000 condition_record_support_limited 20 0 5 Paroxysmal_nocturnal_hemoglobinuria_1 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHGDH condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 10 See_cases|not_provided 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF8 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 1 not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PGAM2 mondo_mondo_0009865_medgen_c0268149_omim_261670_orphanet_97234 Glycogen storage disease type X MONDO:MONDO:0009865,MedGen:C0268149,OMIM:261670,Orphanet:97234 11 11 1.0000 condition_record_support_limited 20 0 3 Glycogen_storage_disease_type_X 12 low_record_burden_interpretation_limited low_record_burden_gene PEX2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 9 not_provided 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDHB mondo_mondo_0012120_medgen_c1837429_omim_608782_orphanet_79246 Pyruvate dehydrogenase phosphatase deficiency MONDO:MONDO:0012120,MedGen:C1837429,OMIM:608782,Orphanet:79246 11 11 1.0000 condition_record_support_limited 20 0 5 Pyruvate_dehydrogenase_phosphatase_deficiency 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 pax6_related_disorder PAX6-related disorder . 11 11 1.0000 condition_record_support_limited 20 0 7 PAX6-related_disorder 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PALB2 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 1 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 11 11 1.0000 condition_record_support_limited 20 0 10 Breast-ovarian_cancer,_familial,_susceptibility_to,_1 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PAH mondo_mondo_0009863_medgen_c0878676_omim_261640_orphanet_13_orphanet_238583 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency MONDO:MONDO:0009863,MedGen:C0878676,OMIM:261640,Orphanet:13,Orphanet:238583 11 11 1.0000 condition_record_support_limited 20 0 11 6-Pyruvoyl-tetrahydrobiopterin_synthase_deficiency 886 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTOF mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 11 11 1.0000 condition_record_support_limited 20 0 10 Hearing_loss,_autosomal_recessive 355 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture OPA1 mondo_mondo_0008858_medgen_c0221061_omim_210000_orphanet_1239 Abortive cerebellar ataxia MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000,Orphanet:1239 11 11 1.0000 condition_record_support_limited 20 0 7 Abortive_cerebellar_ataxia 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OGT mondo_mondo_0030907_medgen_c4478379_omim_300997 Intellectual disability, X-linked 106 MONDO:MONDO:0030907,MedGen:C4478379,OMIM:300997 11 11 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_X-linked_106 17 low_record_burden_interpretation_limited low_record_burden_gene NYX mondo_mondo_0010690_medgen_c3495587_omim_310500_orphanet_215 Congenital stationary night blindness 1A MONDO:MONDO:0010690,MedGen:C3495587,OMIM:310500,Orphanet:215 11 11 1.0000 condition_record_support_limited 20 0 5 Congenital_stationary_night_blindness_1A 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NUBPL condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 3 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene NSD1 nsd1_related_disorder NSD1-related disorder . 11 11 1.0000 condition_record_support_limited 20 0 4 NSD1-related_disorder 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NRROS mondo_mondo_0030033_medgen_c5394359_omim_618875 Seizures, early-onset, with neurodegeneration and brain calcifications MONDO:MONDO:0030033,MedGen:C5394359,OMIM:618875 11 11 1.0000 condition_record_support_limited 20 0 0 Seizures,_early-onset,_with_neurodegeneration_and_brain_calcifications 12 low_record_burden_interpretation_limited low_record_burden_gene NRL mondo_mondo_0013402_medgen_c1834329_omim_613750_orphanet_791 Retinitis pigmentosa 27 MONDO:MONDO:0013402,MedGen:C1834329,OMIM:613750,Orphanet:791 11 11 1.0000 condition_record_support_limited 20 0 6 Retinitis_pigmentosa_27 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAS mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 11 11 1.0000 condition_record_support_limited 20 0 9 RASopathy 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPR2 mondo_mondo_0975810_medgen_c4225399_omim_ps616255 Short stature with nonspecific skeletal abnormalities MONDO:MONDO:0975810,MedGen:C4225399,OMIM:PS616255 11 11 1.0000 condition_record_support_limited 20 0 6 Short_stature_with_nonspecific_skeletal_abnormalities 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NOG mondo_mondo_0020733_medgen_c3714899_omim_185800_orphanet_3250 Proximal symphalangism 1A MONDO:MONDO:0020733,MedGen:C3714899,OMIM:185800,Orphanet:3250 11 11 1.0000 condition_record_support_limited 20 0 4 Proximal_symphalangism_1A 50 single_exon_hotspot_opportunity local_compact_architecture NKX2-5 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 11 11 1.0000 condition_record_support_limited 20 0 8 Cardiovascular_phenotype 125 compact_adjacent_exon_block_opportunity local_compact_architecture NHLRC1 mondo_mondo_0800306_medgen_c1850764_omim_620681 Myoclonic epilepsy of Lafora 2 MONDO:MONDO:0800306,MedGen:C1850764,OMIM:620681 11 11 1.0000 condition_record_support_limited 20 0 7 Myoclonic_epilepsy_of_Lafora_2 49 single_exon_hotspot_opportunity local_compact_architecture NFKB2 mondo_mondo_0014260_medgen_c3809991_omim_615577 Immunodeficiency, common variable, 10 MONDO:MONDO:0014260,MedGen:C3809991,OMIM:615577 11 11 1.0000 condition_record_support_limited 20 0 3 Immunodeficiency,_common_variable,_10 17 low_record_burden_interpretation_limited low_record_burden_gene NF1 mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 11 11 1.0000 condition_record_support_limited 20 0 11 Malignant_tumor_of_urinary_bladder 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NEK9 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 0 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFS8 mondo_mondo_0032606_medgen_c4748737_omim_618222 Mitochondrial complex I deficiency, nuclear type 2 MONDO:MONDO:0032606,MedGen:C4748737,OMIM:618222 11 11 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency,_nuclear_type_2 18 low_record_burden_interpretation_limited low_record_burden_gene NCSTN condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 0 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCSTN mondo_mondo_0007728_medgen_c4551962_omim_142690 Acne inversa, familial, 1 MONDO:MONDO:0007728,MedGen:C4551962,OMIM:142690 11 11 1.0000 condition_record_support_limited 20 0 0 Acne_inversa,_familial,_1 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCKAP1L mondo_mondo_0033551_medgen_c5436540_omim_618982 Immunodeficiency 72 with autoinflammation MONDO:MONDO:0033551,MedGen:C5436540,OMIM:618982 11 11 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency_72_with_autoinflammation 12 low_record_burden_interpretation_limited low_record_burden_gene NBN nbn_related_disorder NBN-related disorder . 11 11 1.0000 condition_record_support_limited 20 0 11 NBN-related_disorder 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NBN human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 11 11 1.0000 condition_record_support_limited 20 0 7 Gastric_cancer 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MYRF myrf_related_disorder MYRF-related disorder . 11 11 1.0000 condition_record_support_limited 20 0 0 MYRF-related_disorder 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYPN cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 11 11 1.0000 condition_record_support_limited 20 0 3 Cardiovascular_phenotype 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYH3 mondo_mondo_0008675_medgen_c0265224_omim_193700_orphanet_2053 Freeman-Sheldon syndrome MONDO:MONDO:0008675,MedGen:C0265224,OMIM:193700,Orphanet:2053 11 11 1.0000 condition_record_support_limited 20 0 6 Freeman-Sheldon_syndrome 124 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH3 mondo_mondo_0032751_medgen_c5193098_omim_618436 Arthrogryposis, distal, type 2B3 MONDO:MONDO:0032751,MedGen:C5193098,OMIM:618436 11 11 1.0000 condition_record_support_limited 20 0 6 Arthrogryposis,_distal,_type_2B3 124 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MTR condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 7 not_provided 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSX1 mondo_mondo_0008582_medgen_c0406735_omim_189500_orphanet_2228 Hypoplastic enamel-onycholysis-hypohidrosis syndrome MONDO:MONDO:0008582,MedGen:C0406735,OMIM:189500,Orphanet:2228 11 11 1.0000 condition_record_support_limited 20 0 2 Hypoplastic_enamel-onycholysis-hypohidrosis_syndrome 29 compact_adjacent_exon_block_opportunity local_compact_architecture MSH2 mondo_mondo_0010159_medgen_c5399763_omim_276300_orphanet_252202 Mismatch repair cancer syndrome 1 MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:252202 11 11 1.0000 condition_record_support_limited 20 0 11 Mismatch_repair_cancer_syndrome_1 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MPLKIP mondo_mondo_0021013_medgen_c1313961_omim_234050 Trichothiodystrophy 4, nonphotosensitive MONDO:MONDO:0021013,MedGen:C1313961,OMIM:234050 11 11 1.0000 condition_record_support_limited 20 0 2 Trichothiodystrophy_4,_nonphotosensitive 22 compact_adjacent_exon_block_opportunity local_compact_architecture MMUT mmut_related_disorder MMUT-related disorder . 11 11 1.0000 condition_record_support_limited 20 0 11 MMUT-related_disorder 408 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMP20 mondo_mondo_0012926_medgen_c2675858_omim_612529_orphanet_88661 Amelogenesis imperfecta hypomaturation type 2A2 MONDO:MONDO:0012926,MedGen:C2675858,OMIM:612529,Orphanet:88661 11 11 1.0000 condition_record_support_limited 20 0 1 Amelogenesis_imperfecta_hypomaturation_type_2A2 11 low_record_burden_interpretation_limited low_record_burden_gene MMP2 mondo_mondo_0009809_medgen_cn322832_omim_259600 Multicentric osteolysis, nodulosis, and arthropathy MONDO:MONDO:0009809,MedGen:CN322832,OMIM:259600 11 11 1.0000 condition_record_support_limited 20 0 3 Multicentric_osteolysis,_nodulosis,_and_arthropathy 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MLH1 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 11 11 1.0000 condition_record_support_limited 20 0 9 Gastric_cancer 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MIB1 mondo_mondo_0014042_medgen_c3554496_omim_615092_orphanet_54260 Left ventricular noncompaction 7 MONDO:MONDO:0014042,MedGen:C3554496,OMIM:615092,Orphanet:54260 11 11 1.0000 condition_record_support_limited 20 0 0 Left_ventricular_noncompaction_7 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 mondo_mondo_0019551_medgen_c0393807_orphanet_90120 Hereditary motor and sensory neuropathy with optic atrophy MONDO:MONDO:0019551,MedGen:C0393807,Orphanet:90120 11 11 1.0000 condition_record_support_limited 20 0 9 Hereditary_motor_and_sensory_neuropathy_with_optic_atrophy 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFF mondo_mondo_0014905_medgen_c4310726_omim_617086_orphanet_485421 Encephalopathy due to defective mitochondrial and peroxisomal fission 2 MONDO:MONDO:0014905,MedGen:C4310726,OMIM:617086,Orphanet:485421 11 11 1.0000 condition_record_support_limited 20 0 1 Encephalopathy_due_to_defective_mitochondrial_and_peroxisomal_fission_2 14 low_record_burden_interpretation_limited low_record_burden_gene METTL23 mondo_mondo_0014409_medgen_c4014745_omim_615942_orphanet_88616 Intellectual disability, autosomal recessive 44 MONDO:MONDO:0014409,MedGen:C4014745,OMIM:615942,Orphanet:88616 11 11 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability,_autosomal_recessive_44 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEGF10 mondo_mondo_0859515_medgen_c3541476_omim_620249 Congenital myopathy 10b, mild variant MONDO:MONDO:0859515,MedGen:C3541476,OMIM:620249 11 11 1.0000 condition_record_support_limited 20 0 3 Congenital_myopathy_10b,_mild_variant 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEFV mondo_mondo_0011959_medgen_c0085077_omim_608068_orphanet_3243 Acute febrile neutrophilic dermatosis MONDO:MONDO:0011959,MedGen:C0085077,OMIM:608068,Orphanet:3243 11 11 1.0000 condition_record_support_limited 20 0 10 Acute_febrile_neutrophilic_dermatosis 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECOM mondo_mondo_0100458_medgen_cn305607 MECOM-associated syndrome MONDO:MONDO:0100458,MedGen:CN305607 11 11 1.0000 condition_record_support_limited 20 0 3 MECOM-associated_syndrome 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCPH1 mondo_mondo_0016660_medgen_c3711387_omim_ps251200_orphanet_2512 Autosomal recessive primary microcephaly MONDO:MONDO:0016660,MedGen:C3711387,OMIM:PS251200,Orphanet:2512 11 11 1.0000 condition_record_support_limited 20 0 5 Autosomal_recessive_primary_microcephaly 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP3K1 mondo_mondo_0013410_medgen_c3151064_omim_613762 46,XY sex reversal 6 MONDO:MONDO:0013410,MedGen:C3151064,OMIM:613762 11 11 1.0000 condition_record_support_limited 20 0 3 46,XY_sex_reversal_6 18 low_record_burden_interpretation_limited low_record_burden_gene MAP2K1 mondo_mondo_0015280_medgen_c1275081_omim_ps115150_orphanet_1340 Cardio-facio-cutaneous syndrome MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340 11 11 1.0000 condition_record_support_limited 20 0 10 Cardio-facio-cutaneous_syndrome 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAGED2 mondo_mondo_0010503_medgen_c4310820_omim_300971_orphanet_112_orphanet_570371 Bartter disease type 5 MONDO:MONDO:0010503,MedGen:C4310820,OMIM:300971,Orphanet:112,Orphanet:570371 11 11 1.0000 condition_record_support_limited 20 0 1 Bartter_disease_type_5 17 low_record_burden_interpretation_limited low_record_burden_gene LZTFL1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 2 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRSAM1 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 11 11 1.0000 condition_record_support_limited 20 0 9 Charcot-Marie-Tooth_disease 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LOXHD1 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 11 11 1.0000 condition_record_support_limited 20 0 10 Rare_genetic_deafness 443 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LOX cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 11 11 1.0000 condition_record_support_limited 20 0 7 Cardiovascular_phenotype 54 compact_adjacent_exon_block_opportunity local_compact_architecture LOC112694756 mondo_mondo_0012747_medgen_c0272066_omim_611881_orphanet_57 HNSHA due to aldolase A deficiency MONDO:MONDO:0012747,MedGen:C0272066,OMIM:611881,Orphanet:57 11 11 1.0000 condition_record_support_limited 20 0 0 HNSHA_due_to_aldolase_A_deficiency 11 low_record_burden_interpretation_limited low_record_burden_gene LMAN1 mondo_mondo_0009206_medgen_c4551981_omim_227300_orphanet_35909 Factor V and factor VIII, combined deficiency of, type 1 MONDO:MONDO:0009206,MedGen:C4551981,OMIM:227300,Orphanet:35909 11 11 1.0000 condition_record_support_limited 20 0 1 Factor_V_and_factor_VIII,_combined_deficiency_of,_type_1 14 low_record_burden_interpretation_limited low_record_burden_gene LINS1 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 3 not_provided 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LIG3 mondo_mondo_0030696_medgen_c5676934_omim_619780 Mitochondrial DNA depletion syndrome 20 (mngie type) MONDO:MONDO:0030696,MedGen:C5676934,OMIM:619780 11 11 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_DNA_depletion_syndrome_20_(mngie_type) 11 low_record_burden_interpretation_limited low_record_burden_gene LBR mondo_mondo_0008974_medgen_c2931048_omim_215140_orphanet_1426 Greenberg dysplasia MONDO:MONDO:0008974,MedGen:C2931048,OMIM:215140,Orphanet:1426 11 11 1.0000 condition_record_support_limited 20 0 7 Greenberg_dysplasia 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARS2 mondo_mondo_0014869_medgen_c4310761_omim_617021_orphanet_528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome MONDO:MONDO:0014869,MedGen:C4310761,OMIM:617021,Orphanet:528091 11 11 1.0000 condition_record_support_limited 20 0 7 Hydrops-lactic_acidosis-sideroblastic_anemia-multisystemic_failure_syndrome 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRT14 mondo_mondo_0007554_medgen_c5561924_omim_131900_orphanet_79399 Epidermolysis bullosa simplex, Koebner type MONDO:MONDO:0007554,MedGen:C5561924,OMIM:131900,Orphanet:79399 11 11 1.0000 condition_record_support_limited 20 0 11 Epidermolysis_bullosa_simplex,_Koebner_type 76 compact_adjacent_exon_block_opportunity local_compact_architecture KNL1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 1 not_provided 22 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 11 11 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2A kmt2a_related_disorder KMT2A-related disorder . 11 11 1.0000 condition_record_support_limited 20 0 4 KMT2A-related_disorder 520 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KCTD1 mondo_mondo_0008404_medgen_c1867020_omim_181270_orphanet_2036 Scalp-ear-nipple syndrome MONDO:MONDO:0008404,MedGen:C1867020,OMIM:181270,Orphanet:2036 11 11 1.0000 condition_record_support_limited 20 0 0 Scalp-ear-nipple_syndrome 13 low_record_burden_interpretation_limited low_record_burden_gene KCNJ16 mondo_mondo_0859167_medgen_c5543621_omim_619406 Hypokalemic tubulopathy and deafness MONDO:MONDO:0859167,MedGen:C5543621,OMIM:619406 11 11 1.0000 condition_record_support_limited 20 0 1 Hypokalemic_tubulopathy_and_deafness 13 low_record_burden_interpretation_limited low_record_burden_gene KANSL1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 11 11 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITPR1 mondo_mondo_0011694_medgen_c1847725_omim_606658_orphanet_98769 Spinocerebellar ataxia type 15/16 MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658,Orphanet:98769 11 11 1.0000 condition_record_support_limited 20 0 7 Spinocerebellar_ataxia_type_15/16 85 large_gene_or_donor_burden_stress_case donor_burden_stress ITGA8 mondo_mondo_0024519_medgen_c1619700_omim_191830_orphanet_411709 Renal hypodysplasia/aplasia 1 MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830,Orphanet:411709 11 11 1.0000 condition_record_support_limited 20 0 2 Renal_hypodysplasia/aplasia_1 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IPO8 ipo8_related_connective_tissue_disorder IPO8 related Connective tissue disorder . 11 11 1.0000 condition_record_support_limited 20 0 8 IPO8_related_Connective_tissue_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INSR mondo_mondo_0009874_medgen_c0271695_omim_262190_orphanet_769 Rabson-Mendenhall syndrome MONDO:MONDO:0009874,MedGen:C0271695,OMIM:262190,Orphanet:769 11 11 1.0000 condition_record_support_limited 20 0 2 Rabson-Mendenhall_syndrome 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INPP5E condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 11 11 1.0000 condition_record_support_limited 20 11 8 not_provided|not_specified 79 compact_adjacent_exon_block_opportunity local_compact_architecture IL7R human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 11 11 1.0000 condition_record_support_limited 20 0 8 Severe_combined_immunodeficiency_disease 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL2RB condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 0 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene IL21R mondo_mondo_0014082_medgen_c3554687_omim_615207_orphanet_357329 Cryptosporidiosis-chronic cholangitis-liver disease syndrome MONDO:MONDO:0014082,MedGen:C3554687,OMIM:615207,Orphanet:357329 11 11 1.0000 condition_record_support_limited 20 0 0 Cryptosporidiosis-chronic_cholangitis-liver_disease_syndrome 11 low_record_burden_interpretation_limited low_record_burden_gene IFT74 ift74_related_disorder IFT74-related disorder . 11 11 1.0000 condition_record_support_limited 20 0 10 IFT74-related_disorder 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT43 mondo_mondo_0036483_medgen_c4693420_omim_617866 Short-rib thoracic dysplasia 18 with polydactyly MONDO:MONDO:0036483,MedGen:C4693420,OMIM:617866 11 11 1.0000 condition_record_support_limited 20 0 10 Short-rib_thoracic_dysplasia_18_with_polydactyly 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT122 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 7 not_provided 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFIH1 mondo_mondo_0024535_medgen_c4225427_omim_182250_orphanet_85191 Singleton-Merten syndrome 1 MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191 11 11 1.0000 condition_record_support_limited 20 0 11 Singleton-Merten_syndrome_1 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IBA57 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 8 not_provided 38 compact_adjacent_exon_block_opportunity local_compact_architecture HYAL2 hyal2_deficiency HYAL2 deficiency . 11 11 1.0000 condition_record_support_limited 20 0 8 HYAL2_deficiency 11 low_record_burden_interpretation_limited low_record_burden_gene HTRA2 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 4 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene HNF4A hnf4a_related_disorder HNF4A-related disorder . 11 11 1.0000 condition_record_support_limited 20 0 9 HNF4A-related_disorder 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HLCS condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 8 not_provided 194 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HGD condition_not_provided condition not provided .|MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 10 See_cases|not_provided 270 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HFM1 mondo_mondo_0014322_medgen_c3810376_omim_615724 Premature ovarian failure 9 MONDO:MONDO:0014322,MedGen:C3810376,OMIM:615724 11 11 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure_9 16 low_record_burden_interpretation_limited low_record_burden_gene HERC2 mondo_mondo_0014224_medgen_c3809753_omim_615516_orphanet_329195 Developmental delay with autism spectrum disorder and gait instability MONDO:MONDO:0014224,MedGen:C3809753,OMIM:615516,Orphanet:329195 11 11 1.0000 condition_record_support_limited 20 0 2 Developmental_delay_with_autism_spectrum_disorder_and_gait_instability 23 large_gene_or_donor_burden_stress_case donor_burden_stress HECW2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 9 not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HBB medgen_c1841621_orphanet_251380 Fetal hemoglobin quantitative trait locus 1 MedGen:C1841621,Orphanet:251380 11 11 1.0000 condition_record_support_limited 20 0 11 Fetal_hemoglobin_quantitative_trait_locus_1 428 compact_adjacent_exon_block_opportunity local_compact_architecture HADH mondo_mondo_0012382_medgen_c1864948_omim_609975_orphanet_71212 Hyperinsulinemic hypoglycemia, familial, 4 MONDO:MONDO:0012382,MedGen:C1864948,OMIM:609975,Orphanet:71212 11 11 1.0000 condition_record_support_limited 20 0 6 Hyperinsulinemic_hypoglycemia,_familial,_4 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HACE1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 3 not_provided 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCA1A human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 11 11 1.0000 condition_record_support_limited 20 0 7 Retinal_dystrophy 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GTPBP2 mondo_mondo_0060711_medgen_c4693848_omim_617988 Jaberi-Elahi syndrome MONDO:MONDO:0060711,MedGen:C4693848,OMIM:617988 11 11 1.0000 condition_record_support_limited 20 0 0 Jaberi-Elahi_syndrome 12 low_record_burden_interpretation_limited low_record_burden_gene GRM6 mondo_mondo_0009758_medgen_c1850362_omim_257270_orphanet_215 Congenital stationary night blindness 1B MONDO:MONDO:0009758,MedGen:C1850362,OMIM:257270,Orphanet:215 11 11 1.0000 condition_record_support_limited 20 0 7 Congenital_stationary_night_blindness_1B 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2D mondo_mondo_0014947_medgen_c4310687_omim_617162 Developmental and epileptic encephalopathy, 46 MONDO:MONDO:0014947,MedGen:C4310687,OMIM:617162 11 11 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_46 15 low_record_burden_interpretation_limited low_record_burden_gene GPX4 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 3 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene GPI condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 7 not_provided 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPC4 mondo_mondo_0009720_medgen_c1850627_omim_301026_orphanet_2662 Keipert syndrome MONDO:MONDO:0009720,MedGen:C1850627,OMIM:301026,Orphanet:2662 11 11 1.0000 condition_record_support_limited 20 0 1 Keipert_syndrome 16 low_record_burden_interpretation_limited low_record_burden_gene GNPTAB gnptab_related_disorder GNPTAB-related disorder . 11 11 1.0000 condition_record_support_limited 20 0 8 GNPTAB-related_disorder 436 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAO1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 11 11 1.0000 condition_record_support_limited 20 0 8 Inborn_genetic_diseases 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA1 gata1_related_disorder GATA1-related disorder . 11 11 1.0000 condition_record_support_limited 20 0 3 GATA1-related_disorder 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAMT mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 11 11 1.0000 condition_record_support_limited 20 0 10 Inborn_genetic_diseases 145 compact_adjacent_exon_block_opportunity local_compact_architecture GAA mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 Glycogen storage disease MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 11 11 1.0000 condition_record_support_limited 20 0 11 Glycogen_storage_disease 739 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FXN mondo_mondo_0100340_medgen_c1856689_omim_229300_orphanet_95 Friedreich ataxia 1 MONDO:MONDO:0100340,MedGen:C1856689,OMIM:229300,Orphanet:95 11 11 1.0000 condition_record_support_limited 20 0 3 Friedreich_ataxia_1 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXL2 medgen_c2931135 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I MedGen:C2931135 11 11 1.0000 condition_record_support_limited 20 0 7 BLEPHAROPHIMOSIS,_PTOSIS,_AND_EPICANTHUS_INVERSUS,_TYPE_I 174 single_exon_hotspot_opportunity local_compact_architecture FOCAD mondo_mondo_0859273_medgen_c5774195_omim_619991 Liver disease, severe congenital MONDO:MONDO:0859273,MedGen:C5774195,OMIM:619991 11 11 1.0000 condition_record_support_limited 20 0 0 Liver_disease,_severe_congenital 13 low_record_burden_interpretation_limited low_record_burden_gene FMR1 mondo_mondo_0010383_medgen_c0016667_omim_300624_orphanet_449291_orphanet_908 Fragile X syndrome MONDO:MONDO:0010383,MedGen:C0016667,OMIM:300624,Orphanet:449291,Orphanet:908 11 11 1.0000 condition_record_support_limited 20 0 0 Fragile_X_syndrome 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FMN2 mondo_mondo_0014524_medgen_c4015444_omim_616193_orphanet_88616 Intellectual disability, autosomal recessive 47 MONDO:MONDO:0014524,MedGen:C4015444,OMIM:616193,Orphanet:88616 11 11 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_autosomal_recessive_47 17 low_record_burden_interpretation_limited low_record_burden_gene FHL1 mondo_mondo_0010414_medgen_c4225423_omim_300717_orphanet_97239 Myopathy, reducing body, X-linked, early-onset, severe MONDO:MONDO:0010414,MedGen:C4225423,OMIM:300717,Orphanet:97239 11 11 1.0000 condition_record_support_limited 20 0 7 Myopathy,_reducing_body,_X-linked,_early-onset,_severe 101 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 mondo_mondo_0013074_medgen_c0406612_omim_613001_orphanet_2396 Encephalocraniocutaneous lipomatosis MONDO:MONDO:0013074,MedGen:C0406612,OMIM:613001,Orphanet:2396 11 11 1.0000 condition_record_support_limited 20 0 10 Encephalocraniocutaneous_lipomatosis 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGD4 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 7 not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGA fga_related_disorder FGA-related disorder . 11 11 1.0000 condition_record_support_limited 20 0 7 FGA-related_disorder 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FERRY3 mondo_mondo_0032605_medgen_c4748732_omim_618221 Intellectual disability, autosomal recessive 66 MONDO:MONDO:0032605,MedGen:C4748732,OMIM:618221 11 11 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability,_autosomal_recessive_66 19 low_record_burden_interpretation_limited low_record_burden_gene FANCL condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 9 not_provided 120 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F5 human_phenotype_ontology_hp_0002140_mondo_mondo_1060198_medgen_c0948008_omim_601367 Ischemic stroke Human_Phenotype_Ontology:HP:0002140,MONDO:MONDO:1060198,MedGen:C0948008,OMIM:601367 11 11 1.0000 condition_record_support_limited 20 0 11 Ischemic_stroke 109 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture F5 human_phenotype_ontology_hp_0002639_mondo_mondo_0010947_medgen_c0856761_omim_600880_orphanet_131 Budd-Chiari syndrome Human_Phenotype_Ontology:HP:0002639,MONDO:MONDO:0010947,MedGen:C0856761,OMIM:600880,Orphanet:131 11 11 1.0000 condition_record_support_limited 20 0 11 Budd-Chiari_syndrome 109 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture F13B human_phenotype_ontology_hp_0040234_mondo_mondo_0013190_medgen_c2750481_omim_613235_orphanet_331 Factor XIII, b subunit, deficiency of Human_Phenotype_Ontology:HP:0040234,MONDO:MONDO:0013190,MedGen:C2750481,OMIM:613235,Orphanet:331 11 11 1.0000 condition_record_support_limited 20 0 2 Factor_XIII,_b_subunit,_deficiency_of 16 low_record_burden_interpretation_limited low_record_burden_gene ERF mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 11 11 1.0000 condition_record_support_limited 20 0 8 Inborn_genetic_diseases 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC6L2 mondo_mondo_0014317_medgen_c3810350_omim_615715_orphanet_401764 Pancytopenia-developmental delay syndrome MONDO:MONDO:0014317,MedGen:C3810350,OMIM:615715,Orphanet:401764 11 11 1.0000 condition_record_support_limited 20 0 4 Pancytopenia-developmental_delay_syndrome 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 11 11 1.0000 condition_record_support_limited 20 0 10 Inborn_genetic_diseases 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC3 mondo_mondo_0019600_medgen_c0043346_orphanet_910 Xeroderma pigmentosum MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910 11 11 1.0000 condition_record_support_limited 20 0 8 Xeroderma_pigmentosum 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPS8L2 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 2 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELP2 mondo_mondo_0014996_medgen_c4310641_omim_617270 Intellectual disability, autosomal recessive 58 MONDO:MONDO:0014996,MedGen:C4310641,OMIM:617270 11 11 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability,_autosomal_recessive_58 17 low_record_burden_interpretation_limited low_record_burden_gene EIF2B3 mondo_mondo_0957871_medgen_c5830405_omim_620313 Leukoencephalopathy with vanishing white matter 3 MONDO:MONDO:0957871,MedGen:C5830405,OMIM:620313 11 11 1.0000 condition_record_support_limited 20 0 5 Leukoencephalopathy_with_vanishing_white_matter_3 16 low_record_burden_interpretation_limited low_record_burden_gene EEF1A2 mondo_mondo_0014617_medgen_c4225343_omim_616393 Intellectual disability, autosomal dominant 38 MONDO:MONDO:0014617,MedGen:C4225343,OMIM:616393 11 11 1.0000 condition_record_support_limited 20 0 8 Intellectual_disability,_autosomal_dominant_38 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EDARADD mondo_mondo_0013983_medgen_c3539920_omim_614941_orphanet_238468_orphanet_248 Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive MONDO:MONDO:0013983,MedGen:C3539920,OMIM:614941,Orphanet:238468,Orphanet:248 11 11 1.0000 condition_record_support_limited 20 0 6 Ectodermal_dysplasia_11B,_hypohidrotic/hair/tooth_type,_autosomal_recessive 16 low_record_burden_interpretation_limited low_record_burden_gene DYSF human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 11 11 1.0000 condition_record_support_limited 20 0 7 Abnormality_of_the_musculature 913 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC2LI1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 11 11 1.0000 condition_record_support_limited 20 0 8 Cardiovascular_phenotype 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSPP condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 3 not_provided 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSP mondo_mondo_0957307_medgen_c1843292_omim_620415_orphanet_293165 Woolly hair-skin fragility syndrome MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165 11 11 1.0000 condition_record_support_limited 20 0 11 Woolly_hair-skin_fragility_syndrome 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSP efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 11 11 1.0000 condition_record_support_limited 20 0 0 Primary_dilated_cardiomyopathy 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DNAH8 mondo_mondo_0033673_medgen_c5436799_omim_619095 Spermatogenic failure 46 MONDO:MONDO:0033673,MedGen:C5436799,OMIM:619095 11 11 1.0000 condition_record_support_limited 20 0 6 Spermatogenic_failure_46 156 large_gene_or_donor_burden_stress_case donor_burden_stress DNAAF11 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 11 11 1.0000 condition_record_support_limited 20 0 8 Primary_ciliary_dyskinesia 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHX30 mondo_mondo_0060622_medgen_c4540496_omim_617804_orphanet_647788 Neurodevelopmental disorder with severe motor impairment and absent language MONDO:MONDO:0060622,MedGen:C4540496,OMIM:617804,Orphanet:647788 11 11 1.0000 condition_record_support_limited 20 0 5 Neurodevelopmental_disorder_with_severe_motor_impairment_and_absent_language 19 low_record_burden_interpretation_limited low_record_burden_gene DGUOK mondo_mondo_8000013_medgen_cn305369_omim_617068 Portal hypertension, noncirrhotic, 1 MONDO:MONDO:8000013,MedGen:CN305369,OMIM:617068 11 11 1.0000 condition_record_support_limited 20 0 11 Portal_hypertension,_noncirrhotic,_1 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCTN1 mondo_mondo_0011879_medgen_c1843315_omim_607641_orphanet_139589 Neuronopathy, distal hereditary motor, type 7B MONDO:MONDO:0011879,MedGen:C1843315,OMIM:607641,Orphanet:139589 11 11 1.0000 condition_record_support_limited 20 0 11 Neuronopathy,_distal_hereditary_motor,_type_7B 14 low_record_burden_interpretation_limited low_record_burden_gene DBNL mondo_mondo_0009865_medgen_c0268149_omim_261670_orphanet_97234 Glycogen storage disease type X MONDO:MONDO:0009865,MedGen:C0268149,OMIM:261670,Orphanet:97234 11 11 1.0000 condition_record_support_limited 20 0 3 Glycogen_storage_disease_type_X 12 low_record_burden_interpretation_limited low_record_burden_gene DAG1 mondo_mondo_0013440_medgen_c4511963_omim_613818_orphanet_280333 Autosomal recessive limb-girdle muscular dystrophy type 2P MONDO:MONDO:0013440,MedGen:C4511963,OMIM:613818,Orphanet:280333 11 11 1.0000 condition_record_support_limited 20 0 8 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2P 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP27A1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 11 11 1.0000 condition_record_support_limited 20 0 10 Cardiovascular_phenotype 214 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CWF19L1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 3 not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSDE1 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 0 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene CPT1A condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 10 not_provided 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ4 mondo_mondo_0958009_medgen_c5882738_omim_620666 Spastic ataxia 10, autosomal recessive MONDO:MONDO:0958009,MedGen:C5882738,OMIM:620666 11 11 1.0000 condition_record_support_limited 20 0 7 Spastic_ataxia_10,_autosomal_recessive 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL1A2 mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 Ehlers-Danlos syndrome MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 11 11 1.0000 condition_record_support_limited 20 0 11 Ehlers-Danlos_syndrome 722 large_gene_or_donor_burden_stress_case donor_burden_stress COG8 mondo_mondo_0012635_medgen_c1970021_omim_611182_orphanet_95428 COG8-congenital disorder of glycosylation MONDO:MONDO:0012635,MedGen:C1970021,OMIM:611182,Orphanet:95428 11 11 1.0000 condition_record_support_limited 20 0 3 COG8-congenital_disorder_of_glycosylation 17 low_record_burden_interpretation_limited low_record_burden_gene CNTNAP1 mondo_mondo_0014569_medgen_c4225386_omim_616286 Lethal congenital contracture syndrome 7 MONDO:MONDO:0014569,MedGen:C4225386,OMIM:616286 11 11 1.0000 condition_record_support_limited 20 0 5 Lethal_congenital_contracture_syndrome_7 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNNM2 mondo_mondo_0013480_medgen_c3151295_omim_613882_orphanet_34527 Renal hypomagnesemia 6 MONDO:MONDO:0013480,MedGen:C3151295,OMIM:613882,Orphanet:34527 11 11 1.0000 condition_record_support_limited 20 0 4 Renal_hypomagnesemia_6 39 compact_adjacent_exon_block_opportunity local_compact_architecture CLRN1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 11 11 1.0000 condition_record_support_limited 20 0 7 Retinal_dystrophy 97 compact_adjacent_exon_block_opportunity local_compact_architecture CLDN14 mondo_mondo_0013537_medgen_c3279660_omim_614035_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 29 MONDO:MONDO:0013537,MedGen:C3279660,OMIM:614035,Orphanet:90636 11 11 1.0000 condition_record_support_limited 20 0 4 Autosomal_recessive_nonsyndromic_hearing_loss_29 19 low_record_burden_interpretation_limited low_record_burden_gene CIT condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 2 not_provided 25 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CIB1 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 2 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene CHEK2 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 11 11 1.0000 condition_record_support_limited 20 0 11 Colorectal_cancer 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHD8 chd8_related_disorder CHD8-related disorder . 11 11 1.0000 condition_record_support_limited 20 0 6 CHD8-related_disorder 212 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD5 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 11 11 1.0000 condition_record_support_limited 20 0 9 Global_developmental_delay 39 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHAMP1 champ1_related_syndrome CHAMP1-related syndrome . 11 11 1.0000 condition_record_support_limited 20 0 10 CHAMP1-related_syndrome 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFD condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 11 11 1.0000 condition_record_support_limited 20 11 5 not_provided|not_specified 14 low_record_burden_interpretation_limited low_record_burden_gene CFB mondo_mondo_0016244_medgen_c2931788_orphanet_2134 Atypical hemolytic-uremic syndrome MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134 11 11 1.0000 condition_record_support_limited 20 0 3 Atypical_hemolytic-uremic_syndrome 13 low_record_burden_interpretation_limited low_record_burden_gene CEP290 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 11 11 1.0000 condition_record_support_limited 20 0 10 Inborn_genetic_diseases 949 large_gene_or_donor_burden_stress_case donor_burden_stress CELSR3 condition_not_provided condition not provided . 11 11 1.0000 condition_record_support_limited 20 11 0 See_cases 13 low_record_burden_interpretation_limited low_record_burden_gene CDH1 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 11 11 1.0000 condition_record_support_limited 20 0 11 Ovarian_cancer 622 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CDC42BPB cdc42bpb_related_neurodevelopmental_syndrome CDC42BPB-related neurodevelopmental syndrome . 11 11 1.0000 condition_record_support_limited 20 0 6 CDC42BPB-related_neurodevelopmental_syndrome 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC42 mondo_mondo_0014757_medgen_c4225222_omim_616737_orphanet_487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome MONDO:MONDO:0014757,MedGen:C4225222,OMIM:616737,Orphanet:487796 11 11 1.0000 condition_record_support_limited 20 0 8 Macrothrombocytopenia-lymphedema-developmental_delay-facial_dysmorphism-camptodactyly_syndrome 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC20 mondo_mondo_0859521_medgen_c5830326_omim_620276 Oocyte maturation defect 14 MONDO:MONDO:0859521,MedGen:C5830326,OMIM:620276 11 11 1.0000 condition_record_support_limited 20 0 0 Oocyte_maturation_defect_14 11 low_record_burden_interpretation_limited low_record_burden_gene CDC14A condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 4 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD63 human_phenotype_ontology_hp_0030642_mondo_mondo_0007639_medgen_c0311338_omim_136880_orphanet_227796_orphanet_52427 Pigmentary retinal dystrophy Human_Phenotype_Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880,Orphanet:227796,Orphanet:52427 11 11 1.0000 condition_record_support_limited 20 0 7 Pigmentary_retinal_dystrophy 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCNH rasa1_related_disorder RASA1-related disorder . 11 11 1.0000 condition_record_support_limited 20 0 5 RASA1-related_disorder 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCND2 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 9 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene CCDC39 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 9 not_provided 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 11 11 1.0000 condition_record_support_limited 20 0 10 Inborn_genetic_diseases 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPRIN1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 11 11 1.0000 condition_record_support_limited 20 11 0 not_provided|not_specified 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CANT1 mondo_mondo_0054680_medgen_c4540251_omim_617719_orphanet_647676 Epiphyseal dysplasia, multiple, 7 MONDO:MONDO:0054680,MedGen:C4540251,OMIM:617719,Orphanet:647676 11 11 1.0000 condition_record_support_limited 20 0 11 Epiphyseal_dysplasia,_multiple,_7 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CALM2 mondo_mondo_0014550_medgen_c4015695_omim_616249_orphanet_101016_orphanet_768 Long QT syndrome 15 MONDO:MONDO:0014550,MedGen:C4015695,OMIM:616249,Orphanet:101016,Orphanet:768 11 11 1.0000 condition_record_support_limited 20 0 9 Long_QT_syndrome_15 19 low_record_burden_interpretation_limited low_record_burden_gene CALM1 mondo_mondo_0013966_medgen_c3554047_omim_614916_orphanet_3286 Catecholaminergic polymorphic ventricular tachycardia 4 MONDO:MONDO:0013966,MedGen:C3554047,OMIM:614916,Orphanet:3286 11 11 1.0000 condition_record_support_limited 20 0 11 Catecholaminergic_polymorphic_ventricular_tachycardia_4 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNA1F mondo_mondo_0010371_medgen_c0268505_omim_300600_orphanet_178333 Aland island eye disease MONDO:MONDO:0010371,MedGen:C0268505,OMIM:300600,Orphanet:178333 11 11 1.0000 condition_record_support_limited 20 0 6 Aland_island_eye_disease 189 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CABP4 mondo_mondo_0012490_medgen_c4041558_omim_610427_orphanet_215 Cone-rod synaptic disorder, congenital nonprogressive MONDO:MONDO:0012490,MedGen:C4041558,OMIM:610427,Orphanet:215 11 11 1.0000 condition_record_support_limited 20 0 9 Cone-rod_synaptic_disorder,_congenital_nonprogressive 30 compact_adjacent_exon_block_opportunity local_compact_architecture C3 mondo_mondo_0012659_medgen_c1969651_omim_611378 Age related macular degeneration 9 MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 11 11 1.0000 condition_record_support_limited 20 0 11 Age_related_macular_degeneration_9 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C19ORF12 mondo_mondo_0014024_medgen_c2680446_omim_615043_orphanet_320370 Hereditary spastic paraplegia 43 MONDO:MONDO:0014024,MedGen:C2680446,OMIM:615043,Orphanet:320370 11 11 1.0000 condition_record_support_limited 20 0 8 Hereditary_spastic_paraplegia_43 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C10ORF105 mondo_mondo_0010984_medgen_c1832845_omim_601067_orphanet_231169_orphanet_886 Usher syndrome type 1D MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886 11 11 1.0000 condition_record_support_limited 20 0 8 Usher_syndrome_type_1D 65 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture BRIP1 mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 11 11 1.0000 condition_record_support_limited 20 0 10 Malignant_tumor_of_breast 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRIP1 brip1_related_disorder BRIP1-related disorder MedGen:CN239206 11 11 1.0000 condition_record_support_limited 20 0 11 BRIP1-related_disorder 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRD4 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 11 11 1.0000 condition_record_support_limited 20 11 1 See_cases|not_provided|not_specified 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMPR1B mondo_mondo_0012274_medgen_c4225404_omim_609441 Acromesomelic dysplasia 3 MONDO:MONDO:0012274,MedGen:C4225404,OMIM:609441 11 11 1.0000 condition_record_support_limited 20 0 5 Acromesomelic_dysplasia_3 18 low_record_burden_interpretation_limited low_record_burden_gene BLM blm_related_disorder BLM-related disorder . 11 11 1.0000 condition_record_support_limited 20 0 10 BLM-related_disorder 583 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BBS1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 11 11 1.0000 condition_record_support_limited 20 0 9 Retinitis_pigmentosa 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BAP1 mondo_mondo_0859230_medgen_c5676925_omim_619762 Kury-Isidor syndrome MONDO:MONDO:0859230,MedGen:C5676925,OMIM:619762 11 11 1.0000 condition_record_support_limited 20 0 7 Kury-Isidor_syndrome 413 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control AUH condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 11 11 1.0000 condition_record_support_limited 20 11 6 not_provided 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATRIP human_phenotype_ontology_hp_0002725_mondo_mondo_0007915_medgen_c0024141_omim_152700_orphanet_536 Systemic lupus erythematosus Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536 11 11 1.0000 condition_record_support_limited 20 0 10 Systemic_lupus_erythematosus 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP8B1 atp8b1_related_disorder ATP8B1-related disorder . 11 11 1.0000 condition_record_support_limited 20 0 7 ATP8B1-related_disorder 131 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2B2 mondo_mondo_0030719_medgen_c5676948_omim_619804 Hearing loss, autosomal dominant 82 MONDO:MONDO:0030719,MedGen:C5676948,OMIM:619804 11 11 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_dominant_82 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A1 mondo_mondo_0054833_medgen_c4747974_omim_618036_orphanet_521414 Charcot-Marie-tooth disease, axonal, type 2DD MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414 11 11 1.0000 condition_record_support_limited 20 0 6 Charcot-Marie-tooth_disease,_axonal,_type_2DD 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP13A2 condition_not_provided condition not provided .|MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 9 See_cases|not_provided 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATAD3A mondo_mondo_0014958_medgen_c4310677_omim_617183_orphanet_496790 Harel-Yoon syndrome MONDO:MONDO:0014958,MedGen:C4310677,OMIM:617183,Orphanet:496790 11 11 1.0000 condition_record_support_limited 20 0 5 Harel-Yoon_syndrome 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASH1L mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 11 11 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 99 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARL6 mondo_mondo_0008854_medgen_c2936862_omim_209900 Bardet-Biedl syndrome 1 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 11 11 1.0000 condition_record_support_limited 20 0 11 Bardet-Biedl_syndrome_1 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 11 11 1.0000 condition_record_support_limited 20 0 5 Intellectual_disability 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B arid1b_related_disorder ARID1B-related disorder . 11 11 1.0000 condition_record_support_limited 20 0 6 ARID1B-related_disorder 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARF1 mondo_mondo_0032588_medgen_c4748602_omim_618185 Periventricular nodular heterotopia 8 MONDO:MONDO:0032588,MedGen:C4748602,OMIM:618185 11 11 1.0000 condition_record_support_limited 20 0 2 Periventricular_nodular_heterotopia_8 12 low_record_burden_interpretation_limited low_record_burden_gene APOA1 mondo_mondo_0032766_medgen_c5551172_omim_618463 Hypoalphalipoproteinemia, primary, 2 MONDO:MONDO:0032766,MedGen:C5551172,OMIM:618463 11 11 1.0000 condition_record_support_limited 20 0 4 Hypoalphalipoproteinemia,_primary,_2 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP1B1 mondo_mondo_0009440_medgen_c1275089_omim_242150_orphanet_477 Autosomal recessive keratitis-ichthyosis-deafness syndrome MONDO:MONDO:0009440,MedGen:C1275089,OMIM:242150,Orphanet:477 11 11 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_keratitis-ichthyosis-deafness_syndrome 12 low_record_burden_interpretation_limited low_record_burden_gene ANKRD26 mondo_mondo_0008555_medgen_c1861185_omim_188000_orphanet_268322 Thrombocytopenia 2 MONDO:MONDO:0008555,MedGen:C1861185,OMIM:188000,Orphanet:268322 11 11 1.0000 condition_record_support_limited 20 0 7 Thrombocytopenia_2 13 low_record_burden_interpretation_limited low_record_burden_gene ALPL mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 Osteogenesis imperfecta MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 11 11 1.0000 condition_record_support_limited 20 0 11 Osteogenesis_imperfecta 532 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALPL hypophosphataemia_or_rickets Hypophosphataemia or rickets . 11 11 1.0000 condition_record_support_limited 20 0 11 Hypophosphataemia_or_rickets 532 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG8 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 9 not_provided 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDOA mondo_mondo_0012747_medgen_c0272066_omim_611881_orphanet_57 HNSHA due to aldolase A deficiency MONDO:MONDO:0012747,MedGen:C0272066,OMIM:611881,Orphanet:57 11 11 1.0000 condition_record_support_limited 20 0 0 HNSHA_due_to_aldolase_A_deficiency 11 low_record_burden_interpretation_limited low_record_burden_gene AKR1D1 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 4 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AICDA condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 9 not_provided 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHI1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 11 11 1.0000 condition_record_support_limited 20 0 11 Retinal_dystrophy 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGK condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 8 not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGA condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 11 not_provided 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADK mondo_mondo_0100255_medgen_c4706555_omim_614300_orphanet_289290_orphanet_88616 Adenosine kinase deficiency MONDO:MONDO:0100255,MedGen:C4706555,OMIM:614300,Orphanet:289290,Orphanet:88616 11 11 1.0000 condition_record_support_limited 20 0 0 Adenosine_kinase_deficiency 13 low_record_burden_interpretation_limited low_record_burden_gene ACSL4 mondo_mondo_0010313_medgen_c1845672_omim_300387_orphanet_777 Intellectual disability, X-linked 63 MONDO:MONDO:0010313,MedGen:C1845672,OMIM:300387,Orphanet:777 11 11 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_X-linked_63 14 low_record_burden_interpretation_limited low_record_burden_gene ACP4 mondo_mondo_0015008_medgen_c4310630_omim_617297 Amelogenesis imperfecta, type 1J MONDO:MONDO:0015008,MedGen:C4310630,OMIM:617297 11 11 1.0000 condition_record_support_limited 20 0 1 Amelogenesis_imperfecta,_type_1J 12 low_record_burden_interpretation_limited low_record_burden_gene ACAN acan_related_disorder ACAN-related disorder . 11 11 1.0000 condition_record_support_limited 20 0 4 ACAN-related_disorder 203 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ACAD8 condition_not_provided condition not provided MedGen:C3661900 11 11 1.0000 condition_record_support_limited 20 11 4 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AARS1 mondo_mondo_0013212_medgen_c2750090_omim_613287_orphanet_228174 Charcot-Marie-Tooth disease axonal type 2N MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287,Orphanet:228174 11 11 1.0000 condition_record_support_limited 20 0 6 Charcot-Marie-Tooth_disease_axonal_type_2N 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZP1 mondo_mondo_0014342_medgen_c4014291_omim_615774_orphanet_404466 Female infertility due to zona pellucida defect MONDO:MONDO:0014342,MedGen:C4014291,OMIM:615774,Orphanet:404466 10 10 1.0000 condition_record_support_limited 20 0 1 Female_infertility_due_to_zona_pellucida_defect 13 low_record_burden_interpretation_limited low_record_burden_gene ZNF711 mondo_mondo_0010430_medgen_c2749020_omim_300803_orphanet_777 Intellectual disability, X-linked 97 MONDO:MONDO:0010430,MedGen:C2749020,OMIM:300803,Orphanet:777 10 10 1.0000 condition_record_support_limited 20 0 5 Intellectual_disability,_X-linked_97 16 low_record_burden_interpretation_limited low_record_burden_gene ZNF469 mondo_mondo_0009215_medgen_c3469521_omim_227650_orphanet_84 Fanconi anemia complementation group A MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84 10 10 1.0000 condition_record_support_limited 20 0 0 Fanconi_anemia_complementation_group_A 197 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZMPSTE24 mondo_mondo_0031213_medgen_c0406585_omim_ps275210_orphanet_1662 Lethal tight skin contracture syndrome MONDO:MONDO:0031213,MedGen:C0406585,OMIM:PS275210,Orphanet:1662 10 10 1.0000 condition_record_support_limited 20 0 7 Lethal_tight_skin_contracture_syndrome 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZFX mondo_mondo_0958322_medgen_c5935567_omim_301118 Intellectual developmental disorder, X-linked, syndromic 37 MONDO:MONDO:0958322,MedGen:C5935567,OMIM:301118 10 10 1.0000 condition_record_support_limited 20 0 2 Intellectual_developmental_disorder,_X-linked,_syndromic_37 11 low_record_burden_interpretation_limited low_record_burden_gene ZFP57 mondo_mondo_0011073_medgen_c1832386_omim_601410_orphanet_99886 Diabetes mellitus, transient neonatal, 1 MONDO:MONDO:0011073,MedGen:C1832386,OMIM:601410,Orphanet:99886 10 10 1.0000 condition_record_support_limited 20 0 1 Diabetes_mellitus,_transient_neonatal,_1 14 low_record_burden_interpretation_limited low_record_burden_gene ZBTB20 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 10 10 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB11 mondo_mondo_0032715_medgen_c5193067_omim_618383_orphanet_699835 Intellectual developmental disorder, autosomal recessive 69 MONDO:MONDO:0032715,MedGen:C5193067,OMIM:618383,Orphanet:699835 10 10 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder,_autosomal_recessive_69 10 low_record_burden_interpretation_limited low_record_burden_gene YARS2 mondo_mondo_0013307_medgen_c3150802_omim_613561_orphanet_2598 Myopathy, lactic acidosis, and sideroblastic anemia 2 MONDO:MONDO:0013307,MedGen:C3150802,OMIM:613561,Orphanet:2598 10 10 1.0000 condition_record_support_limited 20 0 6 Myopathy,_lactic_acidosis,_and_sideroblastic_anemia_2 37 compact_adjacent_exon_block_opportunity local_compact_architecture XYLT1 mondo_mondo_0009629_medgen_c4012146_omim_251450_orphanet_1425 Desbuquois dysplasia 1 MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450,Orphanet:1425 10 10 1.0000 condition_record_support_limited 20 0 2 Desbuquois_dysplasia_1 23 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture WDR19 mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 Jeune thoracic dystrophy MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 10 10 1.0000 condition_record_support_limited 20 0 9 Jeune_thoracic_dystrophy 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WASHC5 mondo_mondo_0009073_medgen_c4551776_omim_220210_orphanet_7 Ritscher-Schinzel syndrome 1 MONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210,Orphanet:7 10 10 1.0000 condition_record_support_limited 20 0 4 Ritscher-Schinzel_syndrome_1 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WASHC4 mondo_mondo_0014354_medgen_c4014386_omim_615817_orphanet_88616 Intellectual disability, autosomal recessive 43 MONDO:MONDO:0014354,MedGen:C4014386,OMIM:615817,Orphanet:88616 10 10 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_autosomal_recessive_43 11 low_record_burden_interpretation_limited low_record_burden_gene WARS2 mondo_mondo_0060578_medgen_c4540192_omim_617710_orphanet_572798 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MONDO:MONDO:0060578,MedGen:C4540192,OMIM:617710,Orphanet:572798 10 10 1.0000 condition_record_support_limited 20 0 5 Neurodevelopmental_disorder,_mitochondrial,_with_abnormal_movements_and_lactic_acidosis,_with_or_without_seizures 15 low_record_burden_interpretation_limited low_record_burden_gene VWF mondo_mondo_0015631_medgen_c1282975_orphanet_166093 von Willebrand disease type 2N MONDO:MONDO:0015631,MedGen:C1282975,Orphanet:166093 10 10 1.0000 condition_record_support_limited 20 0 9 von_Willebrand_disease_type_2N 454 large_gene_or_donor_burden_stress_case donor_burden_stress USP53 condition_not_provided condition not provided .|MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 4 See_cases|not_provided 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USP53 human_phenotype_ontology_hp_0001396_mondo_mondo_0001751_medgen_c0008370 Cholestasis Human_Phenotype_Ontology:HP:0001396,MONDO:MONDO:0001751,MedGen:C0008370 10 10 1.0000 condition_record_support_limited 20 0 6 Cholestasis 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UNC45A mondo_mondo_0859164_medgen_c5543557_omim_619377 Osteootohepatoenteric syndrome MONDO:MONDO:0859164,MedGen:C5543557,OMIM:619377 10 10 1.0000 condition_record_support_limited 20 0 0 Osteootohepatoenteric_syndrome 12 low_record_burden_interpretation_limited low_record_burden_gene UCHL1 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 5 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBG1 mondo_mondo_0014171_medgen_c3809420_omim_615412 Complex cortical dysplasia with other brain malformations 4 MONDO:MONDO:0014171,MedGen:C3809420,OMIM:615412 10 10 1.0000 condition_record_support_limited 20 0 1 Complex_cortical_dysplasia_with_other_brain_malformations_4 14 low_record_burden_interpretation_limited low_record_burden_gene TUBB4A mondo_mondo_0007493_medgen_c1851943_omim_128101_orphanet_98805 Torsion dystonia 4 MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805 10 10 1.0000 condition_record_support_limited 20 0 9 Torsion_dystonia_4 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUB condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 1 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene TRRAP condition_not_provided condition not provided .|MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 3 See_cases|not_provided 31 large_gene_or_donor_burden_stress_case donor_burden_stress TRNT1 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 10 not_provided 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIT1 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 7 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene TRIP4 mondo_mondo_0014806_medgen_c4225177_omim_616866 Spinal muscular atrophy with congenital bone fractures 1 MONDO:MONDO:0014806,MedGen:C4225177,OMIM:616866 10 10 1.0000 condition_record_support_limited 20 0 5 Spinal_muscular_atrophy_with_congenital_bone_fractures_1 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIM14 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 4 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene TREM2 mondo_mondo_0020749_medgen_c4721893_omim_221770_orphanet_2770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770,Orphanet:2770 10 10 1.0000 condition_record_support_limited 20 0 8 Polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy_1 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAF7 condition_not_provided condition not provided .|MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 6 See_cases|not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene TPK1 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 7 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP63 mondo_mondo_0957216_medgen_c5830399_omim_620311 Premature ovarian failure 21 MONDO:MONDO:0957216,MedGen:C5830399,OMIM:620311 10 10 1.0000 condition_record_support_limited 20 0 9 Premature_ovarian_failure_21 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP63 mondo_mondo_0007124_medgen_c0406709_omim_106260_orphanet_1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome MONDO:MONDO:0007124,MedGen:C0406709,OMIM:106260,Orphanet:1071 10 10 1.0000 condition_record_support_limited 20 0 9 Ankyloblepharon-ectodermal_defects-cleft_lip/palate_syndrome 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP63 mondo_mondo_0007072_medgen_c1863204_omim_103285_orphanet_978 ADULT syndrome MONDO:MONDO:0007072,MedGen:C1863204,OMIM:103285,Orphanet:978 10 10 1.0000 condition_record_support_limited 20 0 9 ADULT_syndrome 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TOR1A mondo_mondo_0100218_medgen_c5436453_omim_618947 Arthrogryposis multiplex congenita 5 MONDO:MONDO:0100218,MedGen:C5436453,OMIM:618947 10 10 1.0000 condition_record_support_limited 20 0 3 Arthrogryposis_multiplex_congenita_5 15 low_record_burden_interpretation_limited low_record_burden_gene TNRC6B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 10 10 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TMPPE mondo_mondo_0009660_medgen_c0086652_omim_253010_orphanet_309310_orphanet_582 Mucopolysaccharidosis, MPS-IV-B MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010,Orphanet:309310,Orphanet:582 10 10 1.0000 condition_record_support_limited 20 0 8 Mucopolysaccharidosis,_MPS-IV-B 13 low_record_burden_interpretation_limited low_record_burden_gene TMEM151A mondo_mondo_0859380_medgen_c5830280_omim_620245 Episodic kinesigenic dyskinesia 3 MONDO:MONDO:0859380,MedGen:C5830280,OMIM:620245 10 10 1.0000 condition_record_support_limited 20 0 0 Episodic_kinesigenic_dyskinesia_3 11 low_record_burden_interpretation_limited low_record_burden_gene TINF2 mondo_mondo_0013522_medgen_c3151445_omim_613990 Dyskeratosis congenita, autosomal dominant 3 MONDO:MONDO:0013522,MedGen:C3151445,OMIM:613990 10 10 1.0000 condition_record_support_limited 20 0 5 Dyskeratosis_congenita,_autosomal_dominant_3 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TIGD1 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 3 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene THPO condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 5 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene THOC6 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 7 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR1 mondo_mondo_0018954_medgen_c2697932_omim_ps609192_orphanet_60030 Loeys-Dietz syndrome MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030 10 10 1.0000 condition_record_support_limited 20 0 8 Loeys-Dietz_syndrome 108 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBI condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 10 10 1.0000 condition_record_support_limited 20 10 8 not_provided|not_specified 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGDS mondo_mondo_0014507_medgen_c1844887_omim_616145_orphanet_1388 Catel-Manzke syndrome MONDO:MONDO:0014507,MedGen:C1844887,OMIM:616145,Orphanet:1388 10 10 1.0000 condition_record_support_limited 20 0 2 Catel-Manzke_syndrome 11 low_record_burden_interpretation_limited low_record_burden_gene TFAP2B mondo_mondo_0008209_medgen_c1868570_omim_169100_orphanet_46627 Char syndrome MONDO:MONDO:0008209,MedGen:C1868570,OMIM:169100,Orphanet:46627 10 10 1.0000 condition_record_support_limited 20 0 3 Char_syndrome 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERC human_phenotype_ontology_hp_0001915_mondo_mondo_0015909_medgen_c0002874_omim_609135_orphanet_182040_orphanet_88 Aplastic anemia Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88 10 10 1.0000 condition_record_support_limited 20 0 2 Aplastic_anemia 49 single_exon_hotspot_opportunity local_compact_architecture TEK mondo_mondo_0024291_medgen_c0158570 Vascular malformation MONDO:MONDO:0024291,MedGen:C0158570 10 10 1.0000 condition_record_support_limited 20 0 6 Vascular_malformation 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TECPR2 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 6 not_provided 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCTN3 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 5 not_provided 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCN2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 10 10 1.0000 condition_record_support_limited 20 10 7 not_provided|not_specified 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF12 mondo_mondo_0030534_medgen_c5676903_omim_619718 Hypogonadotropic hypogonadism 26 with or without anosmia MONDO:MONDO:0030534,MedGen:C5676903,OMIM:619718 10 10 1.0000 condition_record_support_limited 20 0 7 Hypogonadotropic_hypogonadism_26_with_or_without_anosmia 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX5 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 10 10 1.0000 condition_record_support_limited 20 0 7 Cardiovascular_phenotype 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX19 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 10 10 1.0000 condition_record_support_limited 20 10 8 See_cases|not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBK1 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 6 not_provided 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D24 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 10 10 1.0000 condition_record_support_limited 20 0 8 Inborn_genetic_diseases 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TACR3 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 10 10 1.0000 condition_record_support_limited 20 10 4 See_cases|not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene TACO1 mondo_mondo_0033638_medgen_c5436689_omim_619052 Mitochondrial complex IV deficiency, nuclear type 8 MONDO:MONDO:0033638,MedGen:C5436689,OMIM:619052 10 10 1.0000 condition_record_support_limited 20 0 4 Mitochondrial_complex_IV_deficiency,_nuclear_type_8 16 low_record_burden_interpretation_limited low_record_burden_gene SYNJ1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 10 10 1.0000 condition_record_support_limited 20 10 5 not_provided 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STING1 mondo_mondo_0014405_medgen_c4014722_omim_615934_orphanet_425120 STING-associated vasculopathy with onset in infancy MONDO:MONDO:0014405,MedGen:C4014722,OMIM:615934,Orphanet:425120 10 10 1.0000 condition_record_support_limited 20 0 3 STING-associated_vasculopathy_with_onset_in_infancy 10 low_record_burden_interpretation_limited low_record_burden_gene ST3GAL3 mondo_mondo_0800491_medgen_c0393706_orphanet_1934 Early-infantile DEE MONDO:MONDO:0800491,MedGen:C0393706,Orphanet:1934 10 10 1.0000 condition_record_support_limited 20 0 2 Early-infantile_DEE 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SRSF1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 10 10 1.0000 condition_record_support_limited 20 0 10 Neurodevelopmental_delay 15 low_record_burden_interpretation_limited low_record_burden_gene SRSF1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 10 10 1.0000 condition_record_support_limited 20 0 10 Intellectual_disability 15 low_record_burden_interpretation_limited low_record_burden_gene SPTAN1 mondo_mondo_0957875_medgen_c5882697_omim_620528 Neuronopathy, distal hereditary motor, autosomal dominant 11 MONDO:MONDO:0957875,MedGen:C5882697,OMIM:620528 10 10 1.0000 condition_record_support_limited 20 0 3 Neuronopathy,_distal_hereditary_motor,_autosomal_dominant_11 131 large_gene_or_donor_burden_stress_case donor_burden_stress SPAG8 mondo_mondo_0014401_medgen_c4014690_omim_615923_orphanet_329191 Tall stature-scoliosis-macrodactyly of the great toes syndrome MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923,Orphanet:329191 10 10 1.0000 condition_record_support_limited 20 0 10 Tall_stature-scoliosis-macrodactyly_of_the_great_toes_syndrome 16 low_record_burden_interpretation_limited low_record_burden_gene SOX10 sox10_related_disorder SOX10-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 3 SOX10-related_disorder 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNRNP200 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 10 10 1.0000 condition_record_support_limited 20 0 7 Retinal_dystrophy 17 low_record_burden_interpretation_limited low_record_burden_gene SMPD1 mondo_mondo_0100464_medgen_c5243927_orphanet_618899 Acid sphingomyelinase deficiency MONDO:MONDO:0100464,MedGen:C5243927,Orphanet:618899 10 10 1.0000 condition_record_support_limited 20 0 8 Acid_sphingomyelinase_deficiency 386 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMG8 mondo_mondo_0859136_medgen_c5543274_omim_619268 Alzahrani-Kuwahara syndrome MONDO:MONDO:0859136,MedGen:C5543274,OMIM:619268 10 10 1.0000 condition_record_support_limited 20 0 0 Alzahrani-Kuwahara_syndrome 11 low_record_burden_interpretation_limited low_record_burden_gene SLC3A1 medgen_c3671878 Cystine urolithiasis MedGen:C3671878 10 10 1.0000 condition_record_support_limited 20 0 5 Cystine_urolithiasis 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC35C1 mondo_mondo_0009953_medgen_c0398739_omim_266265_orphanet_2968_orphanet_99843 Leukocyte adhesion deficiency type II MONDO:MONDO:0009953,MedGen:C0398739,OMIM:266265,Orphanet:2968,Orphanet:99843 10 10 1.0000 condition_record_support_limited 20 0 2 Leukocyte_adhesion_deficiency_type_II 10 low_record_burden_interpretation_limited low_record_burden_gene SLC2A9 mondo_mondo_0012793_medgen_c2677549_omim_612076 Hypouricemia, renal, 2 MONDO:MONDO:0012793,MedGen:C2677549,OMIM:612076 10 10 1.0000 condition_record_support_limited 20 0 3 Hypouricemia,_renal,_2 17 low_record_burden_interpretation_limited low_record_burden_gene SLC25A20 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 10 10 1.0000 condition_record_support_limited 20 10 9 not_provided 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A19 mondo_mondo_0013382_medgen_c3150973_omim_613710_orphanet_217396 Progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:MONDO:0013382,MedGen:C3150973,OMIM:613710,Orphanet:217396 10 10 1.0000 condition_record_support_limited 20 0 1 Progressive_demyelinating_neuropathy_with_bilateral_striatal_necrosis 14 low_record_burden_interpretation_limited low_record_burden_gene SLC16A1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 10 10 1.0000 condition_record_support_limited 20 10 4 not_provided|not_specified 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SIN3A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 10 10 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SIAH1 mondo_mondo_0859144_medgen_c5543351_omim_619314 Buratti-Harel syndrome MONDO:MONDO:0859144,MedGen:C5543351,OMIM:619314 10 10 1.0000 condition_record_support_limited 20 0 2 Buratti-Harel_syndrome 19 low_record_burden_interpretation_limited low_record_burden_gene SFXN4 mondo_mondo_0014261_medgen_c3810001_omim_615578_orphanet_391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome MONDO:MONDO:0014261,MedGen:C3810001,OMIM:615578,Orphanet:391348 10 10 1.0000 condition_record_support_limited 20 0 3 Growth_and_developmental_delay-hypotonia-vision_impairment-lactic_acidosis_syndrome 14 low_record_burden_interpretation_limited low_record_burden_gene SFTPC condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 5 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD1A mondo_mondo_0030005_medgen_c5882670_omim_618832 Epilepsy, early-onset, with or without developmental delay MONDO:MONDO:0030005,MedGen:C5882670,OMIM:618832 10 10 1.0000 condition_record_support_limited 20 0 6 Epilepsy,_early-onset,_with_or_without_developmental_delay 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SDHD mondo_mondo_0030937_medgen_c5436934_omim_619167 Mitochondrial complex 2 deficiency, nuclear type 3 MONDO:MONDO:0030937,MedGen:C5436934,OMIM:619167 10 10 1.0000 condition_record_support_limited 20 0 10 Mitochondrial_complex_2_deficiency,_nuclear_type_3 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHD inherited_phaeochromocytoma_and_paraganglioma_excluding_nf1 Inherited phaeochromocytoma and paraganglioma excluding NF1 . 10 10 1.0000 condition_record_support_limited 20 0 5 Inherited_phaeochromocytoma_and_paraganglioma_excluding_NF1 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHAF2 mondo_mondo_0011121_medgen_c1866552_omim_601650_orphanet_29072 Pheochromocytoma/paraganglioma syndrome 2 MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650,Orphanet:29072 10 10 1.0000 condition_record_support_limited 20 0 8 Pheochromocytoma/paraganglioma_syndrome_2 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHA human_phenotype_ontology_hp_0100723_mondo_mondo_0011719_mesh_d046152_medgen_c0238198_omim_606764_orphanet_44890 Gastrointestinal stromal tumor Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890 10 10 1.0000 condition_record_support_limited 20 0 9 Gastrointestinal_stromal_tumor 320 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SCN8A human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 10 10 1.0000 condition_record_support_limited 20 0 9 Seizure 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A scn4a_related_non_dystrophic_myotonia SCN4A-related non-dystrophic myotonia . 10 10 1.0000 condition_record_support_limited 20 0 7 SCN4A-related_non-dystrophic_myotonia 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1B condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 6 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB2 satb2_related_disorder SATB2-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 6 SATB2-related_disorder 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SALL4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 10 10 1.0000 condition_record_support_limited 20 10 4 not_provided 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RYR2 mondo_mondo_0017990_medgen_c5574922_omim_ps604772_orphanet_3286 Catecholaminergic polymorphic ventricular tachycardia MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286 10 10 1.0000 condition_record_support_limited 20 0 7 Catecholaminergic_polymorphic_ventricular_tachycardia 254 large_gene_or_donor_burden_stress_case donor_burden_stress RTEL1 human_phenotype_ontology_hp_0002206_human_phenotype_ontology_hp_0006523_mondo_mondo_0002771_medgen_c0034069 Pulmonary fibrosis Human_Phenotype_Ontology:HP:0002206,Human_Phenotype_Ontology:HP:0006523,MONDO:MONDO:0002771,MedGen:C0034069 10 10 1.0000 condition_record_support_limited 20 0 8 Pulmonary_fibrosis 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RP1 medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 10 10 1.0000 condition_record_support_limited 20 0 6 Autosomal_recessive_retinitis_pigmentosa 334 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RNPC3 mondo_mondo_0032569_medgen_c4748435_omim_618160 Isolated growth hormone deficiency, type 5 MONDO:MONDO:0032569,MedGen:C4748435,OMIM:618160 10 10 1.0000 condition_record_support_limited 20 0 2 Isolated_growth_hormone_deficiency,_type_5 11 low_record_burden_interpretation_limited low_record_burden_gene RLIM mondo_mondo_0010506_medgen_c4283894_omim_300978 Intellectual disability, X-linked 61 MONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978 10 10 1.0000 condition_record_support_limited 20 0 5 Intellectual_disability,_X-linked_61 12 low_record_burden_interpretation_limited low_record_burden_gene RLIG1 mondo_mondo_0012433_medgen_c1857779_omim_610189_orphanet_3156 Senior-Loken syndrome 6 MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156 10 10 1.0000 condition_record_support_limited 20 0 10 Senior-Loken_syndrome_6 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLIG1 mondo_mondo_0012626_medgen_c1970161_omim_611134_orphanet_564 Meckel syndrome, type 4 MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564 10 10 1.0000 condition_record_support_limited 20 0 10 Meckel_syndrome,_type_4 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLIG1 mondo_mondo_0012723_medgen_c1857821_omim_611755_orphanet_65 Leber congenital amaurosis 10 MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65 10 10 1.0000 condition_record_support_limited 20 0 10 Leber_congenital_amaurosis_10 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLBP1 mondo_mondo_0011839_medgen_c1843815_omim_607476 Newfoundland cone-rod dystrophy MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476 10 10 1.0000 condition_record_support_limited 20 0 10 Newfoundland_cone-rod_dystrophy 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIC3 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene RFX7 mondo_mondo_0957228_medgen_c5830437_omim_620330 Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities MONDO:MONDO:0957228,MedGen:C5830437,OMIM:620330 10 10 1.0000 condition_record_support_limited 20 0 3 Intellectual_developmental_disorder,_autosomal_dominant_71,_with_behavioral_abnormalities 16 low_record_burden_interpretation_limited low_record_burden_gene RFX5 mondo_mondo_0971014_medgen_c1859536_omim_620816 MHC class II deficiency 3 MONDO:MONDO:0971014,MedGen:C1859536,OMIM:620816 10 10 1.0000 condition_record_support_limited 20 0 6 MHC_class_II_deficiency_3 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture REEP1 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 10 10 1.0000 condition_record_support_limited 20 0 6 Hereditary_spastic_paraplegia 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RECQL4 recql4_related_disorder RECQL4-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 8 RECQL4-related_disorder 385 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RARB condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 6 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RALGAPA1 mondo_mondo_0032921_medgen_c5394091_omim_618797 Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation MONDO:MONDO:0032921,MedGen:C5394091,OMIM:618797 10 10 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_hypotonia,_neonatal_respiratory_insufficiency,_and_thermodysregulation 12 low_record_burden_interpretation_limited low_record_burden_gene RAD51C human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Ovarian neoplasm Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 10 10 1.0000 condition_record_support_limited 20 0 10 Ovarian_neoplasm 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAB33B mondo_mondo_0014087_medgen_c3714896_omim_615222 Smith-McCort dysplasia 2 MONDO:MONDO:0014087,MedGen:C3714896,OMIM:615222 10 10 1.0000 condition_record_support_limited 20 0 1 Smith-McCort_dysplasia_2 14 low_record_burden_interpretation_limited low_record_burden_gene RAB27A condition_not_provided condition not provided .|MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 7 See_cases|not_provided 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTHLH condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 0 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTHLH mondo_mondo_0013244_medgen_c3150644_omim_613382_orphanet_93387 Brachydactyly type E2 MONDO:MONDO:0013244,MedGen:C3150644,OMIM:613382,Orphanet:93387 10 10 1.0000 condition_record_support_limited 20 0 0 Brachydactyly_type_E2 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSEN2 mondo_mondo_0011743_medgen_c1847200_omim_606889_orphanet_1020 Alzheimer disease 4 MONDO:MONDO:0011743,MedGen:C1847200,OMIM:606889,Orphanet:1020 10 10 1.0000 condition_record_support_limited 20 0 6 Alzheimer_disease_4 10 low_record_burden_interpretation_limited low_record_burden_gene PRSS1 mondo_mondo_0008185_medgen_c0238339_omim_167800_orphanet_676 Hereditary pancreatitis MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676 10 10 1.0000 condition_record_support_limited 20 0 4 Hereditary_pancreatitis 11 low_record_burden_interpretation_limited low_record_burden_gene PRPS1 mondo_mondo_0010577_medgen_c1844677_omim_304500_orphanet_90625 Hearing loss, X-linked 1 MONDO:MONDO:0010577,MedGen:C1844677,OMIM:304500,Orphanet:90625 10 10 1.0000 condition_record_support_limited 20 0 3 Hearing_loss,_X-linked_1 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPS1 charcot_marie_tooth_neuropathy_x Charcot-Marie-Tooth Neuropathy X MedGen:CN118851 10 10 1.0000 condition_record_support_limited 20 0 6 Charcot-Marie-Tooth_Neuropathy_X 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPH2 human_phenotype_ontology_hp_0030642_mondo_mondo_0007639_medgen_c0311338_omim_136880_orphanet_227796_orphanet_52427 Pigmentary retinal dystrophy Human_Phenotype_Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880,Orphanet:227796,Orphanet:52427 10 10 1.0000 condition_record_support_limited 20 0 8 Pigmentary_retinal_dystrophy 361 compact_adjacent_exon_block_opportunity local_compact_architecture PROKR2 mondo_mondo_0009482_medgen_c3550478_omim_244200_orphanet_478 Hypogonadotropic hypogonadism 3 with or without anosmia MONDO:MONDO:0009482,MedGen:C3550478,OMIM:244200,Orphanet:478 10 10 1.0000 condition_record_support_limited 20 0 3 Hypogonadotropic_hypogonadism_3_with_or_without_anosmia 13 low_record_burden_interpretation_limited low_record_burden_gene PRG4 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 4 not_provided 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRCD condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 6 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene PPARG condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 5 not_provided 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POT1 long_telomere_syndrome Long telomere syndrome . 10 10 1.0000 condition_record_support_limited 20 0 10 Long_telomere_syndrome 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POR condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 9 not_provided 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMC mondo_mondo_0012335_medgen_c1857854_omim_609734_orphanet_71526 Obesity due to pro-opiomelanocortin deficiency MONDO:MONDO:0012335,MedGen:C1857854,OMIM:609734,Orphanet:71526 10 10 1.0000 condition_record_support_limited 20 0 1 Obesity_due_to_pro-opiomelanocortin_deficiency 19 low_record_burden_interpretation_limited low_record_burden_gene POLR2F sox10_related_disorder SOX10-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 3 SOX10-related_disorder 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNKP pnkp_related_disorder PNKP-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 7 PNKP-related_disorder 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNKP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 10 10 1.0000 condition_record_support_limited 20 0 8 Inborn_genetic_diseases 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMS2 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 10 10 1.0000 condition_record_support_limited 20 0 9 Gastric_cancer 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMP22 mondo_mondo_0008087_medgen_c0393814_omim_162500_orphanet_640 Hereditary liability to pressure palsies MONDO:MONDO:0008087,MedGen:C0393814,OMIM:162500,Orphanet:640 10 10 1.0000 condition_record_support_limited 20 0 9 Hereditary_liability_to_pressure_palsies 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLN mondo_mondo_0012362_medgen_c1835928_omim_609909_orphanet_154 Dilated cardiomyopathy 1P MONDO:MONDO:0012362,MedGen:C1835928,OMIM:609909,Orphanet:154 10 10 1.0000 condition_record_support_limited 20 0 3 Dilated_cardiomyopathy_1P 11 low_record_burden_interpretation_limited low_record_burden_gene PITX2 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 4 not_provided 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 10 10 1.0000 condition_record_support_limited 20 0 10 Inborn_genetic_diseases 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGB mondo_mondo_0032822_medgen_c5231418_omim_618580 Developmental and epileptic encephalopathy, 80 MONDO:MONDO:0032822,MedGen:C5231418,OMIM:618580 10 10 1.0000 condition_record_support_limited 20 0 6 Developmental_and_epileptic_encephalopathy,_80 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGA human_phenotype_ontology_hp_0004818_mondo_mondo_0100244_medgen_c0024790_omim_ps300818_orphanet_447 Paroxysmal nocturnal hemoglobinuria Human_Phenotype_Ontology:HP:0004818,MONDO:MONDO:0100244,MedGen:C0024790,OMIM:PS300818,Orphanet:447 10 10 1.0000 condition_record_support_limited 20 0 1 Paroxysmal_nocturnal_hemoglobinuria 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIEZO2 piezo2_related_disorder PIEZO2-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 2 PIEZO2-related_disorder 134 large_gene_or_donor_burden_stress_case donor_burden_stress PIEZO1 piezo1_related_disorder PIEZO1-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 6 PIEZO1-related_disorder 120 large_gene_or_donor_burden_stress_case donor_burden_stress PI4KA condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 10 10 1.0000 condition_record_support_limited 20 10 5 not_provided 42 large_gene_or_donor_burden_stress_case donor_burden_stress PHOX2B mondo_mondo_0700041_medgen_c2751682_omim_613013_orphanet_635 Neuroblastoma, susceptibility to, 2 MONDO:MONDO:0700041,MedGen:C2751682,OMIM:613013,Orphanet:635 10 10 1.0000 condition_record_support_limited 20 0 8 Neuroblastoma,_susceptibility_to,_2 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHKB mondo_mondo_0700291_medgen_c0268147_orphanet_370 Glycogen phosphorylase kinase deficiency MONDO:MONDO:0700291,MedGen:C0268147,Orphanet:370 10 10 1.0000 condition_record_support_limited 20 0 9 Glycogen_phosphorylase_kinase_deficiency 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHKA1 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 7 not_provided 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHIP phip_related_disorder PHIP-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 8 PHIP-related_disorder 177 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PEX6 pex6_related_disorder PEX6-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 10 PEX6-related_disorder 301 compact_adjacent_exon_block_opportunity local_compact_architecture PEX2 mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 Peroxisome biogenesis disorder MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 10 10 1.0000 condition_record_support_limited 20 0 9 Peroxisome_biogenesis_disorder 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCYT2 mondo_mondo_0032906_medgen_c5394037_omim_618770_orphanet_631073 Spastic paraplegia 82, autosomal recessive MONDO:MONDO:0032906,MedGen:C5394037,OMIM:618770,Orphanet:631073 10 10 1.0000 condition_record_support_limited 20 0 1 Spastic_paraplegia_82,_autosomal_recessive 11 low_record_burden_interpretation_limited low_record_burden_gene PCSK9 mondo_mondo_0011369_medgen_c1863551_omim_603776 Hypercholesterolemia, autosomal dominant, 3 MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776 10 10 1.0000 condition_record_support_limited 20 0 5 Hypercholesterolemia,_autosomal_dominant,_3 18 low_record_burden_interpretation_limited low_record_burden_gene PCSK1 pcsk1_related_disorder PCSK1-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 1 PCSK1-related_disorder 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCDHGC4 mondo_mondo_0859252_medgen_c5676990_omim_619880 Neurodevelopmental disorder with poor growth and skeletal anomalies MONDO:MONDO:0859252,MedGen:C5676990,OMIM:619880 10 10 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_poor_growth_and_skeletal_anomalies 10 low_record_burden_interpretation_limited low_record_burden_gene PCDHGC3 mondo_mondo_0859252_medgen_c5676990_omim_619880 Neurodevelopmental disorder with poor growth and skeletal anomalies MONDO:MONDO:0859252,MedGen:C5676990,OMIM:619880 10 10 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_poor_growth_and_skeletal_anomalies 10 low_record_burden_interpretation_limited low_record_burden_gene PCDHGB7 mondo_mondo_0859252_medgen_c5676990_omim_619880 Neurodevelopmental disorder with poor growth and skeletal anomalies MONDO:MONDO:0859252,MedGen:C5676990,OMIM:619880 10 10 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_poor_growth_and_skeletal_anomalies 10 low_record_burden_interpretation_limited low_record_burden_gene PCDHGB6 mondo_mondo_0859252_medgen_c5676990_omim_619880 Neurodevelopmental disorder with poor growth and skeletal anomalies MONDO:MONDO:0859252,MedGen:C5676990,OMIM:619880 10 10 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_poor_growth_and_skeletal_anomalies 10 low_record_burden_interpretation_limited low_record_burden_gene PCDHGB5 mondo_mondo_0859252_medgen_c5676990_omim_619880 Neurodevelopmental disorder with poor growth and skeletal anomalies MONDO:MONDO:0859252,MedGen:C5676990,OMIM:619880 10 10 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_poor_growth_and_skeletal_anomalies 10 low_record_burden_interpretation_limited low_record_burden_gene PCDHGB4 mondo_mondo_0859252_medgen_c5676990_omim_619880 Neurodevelopmental disorder with poor growth and skeletal anomalies MONDO:MONDO:0859252,MedGen:C5676990,OMIM:619880 10 10 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_poor_growth_and_skeletal_anomalies 10 low_record_burden_interpretation_limited low_record_burden_gene PCDHGB3 mondo_mondo_0859252_medgen_c5676990_omim_619880 Neurodevelopmental disorder with poor growth and skeletal anomalies MONDO:MONDO:0859252,MedGen:C5676990,OMIM:619880 10 10 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_poor_growth_and_skeletal_anomalies 10 low_record_burden_interpretation_limited low_record_burden_gene PCDHGB2 mondo_mondo_0859252_medgen_c5676990_omim_619880 Neurodevelopmental disorder with poor growth and skeletal anomalies MONDO:MONDO:0859252,MedGen:C5676990,OMIM:619880 10 10 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_poor_growth_and_skeletal_anomalies 10 low_record_burden_interpretation_limited low_record_burden_gene PCDHGA8 mondo_mondo_0859252_medgen_c5676990_omim_619880 Neurodevelopmental disorder with poor growth and skeletal anomalies MONDO:MONDO:0859252,MedGen:C5676990,OMIM:619880 10 10 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_poor_growth_and_skeletal_anomalies 10 low_record_burden_interpretation_limited low_record_burden_gene PCDHGA12 mondo_mondo_0859252_medgen_c5676990_omim_619880 Neurodevelopmental disorder with poor growth and skeletal anomalies MONDO:MONDO:0859252,MedGen:C5676990,OMIM:619880 10 10 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_poor_growth_and_skeletal_anomalies 10 low_record_burden_interpretation_limited low_record_burden_gene PCDH15 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 10 10 1.0000 condition_record_support_limited 20 0 10 Rare_genetic_deafness 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture P3H2 mondo_mondo_0013670_medgen_c3280346_omim_614292 Myopia, high, with cataract and vitreoretinal degeneration MONDO:MONDO:0013670,MedGen:C3280346,OMIM:614292 10 10 1.0000 condition_record_support_limited 20 0 4 Myopia,_high,_with_cataract_and_vitreoretinal_degeneration 53 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture OTUD6B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 10 10 1.0000 condition_record_support_limited 20 10 5 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ORC6 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 1 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene NUBPL mondo_mondo_0032625_medgen_c4748792_omim_618242 Mitochondrial complex I deficiency, nuclear type 21 MONDO:MONDO:0032625,MedGen:C4748792,OMIM:618242 10 10 1.0000 condition_record_support_limited 20 0 3 Mitochondrial_complex_I_deficiency,_nuclear_type_21 19 low_record_burden_interpretation_limited low_record_burden_gene NTRK1 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 10 10 1.0000 condition_record_support_limited 20 0 10 Charcot-Marie-Tooth_disease 199 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR2F2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 10 10 1.0000 condition_record_support_limited 20 10 4 not_provided 35 compact_adjacent_exon_block_opportunity local_compact_architecture NR2F1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 10 10 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 118 compact_adjacent_exon_block_opportunity local_compact_architecture NPC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 10 10 1.0000 condition_record_support_limited 20 0 9 Inborn_genetic_diseases 634 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NOVA2 mondo_mondo_0030024_medgen_c5394311_omim_618859 Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities MONDO:MONDO:0030024,MedGen:C5394311,OMIM:618859 10 10 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_or_without_autistic_features_and/or_structural_brain_abnormalities 13 low_record_burden_interpretation_limited low_record_burden_gene NMNAT1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 10 10 1.0000 condition_record_support_limited 20 0 8 Retinal_dystrophy 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NIPAL4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 10 10 1.0000 condition_record_support_limited 20 10 5 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFKBIA mondo_mondo_0012806_medgen_c2677481_omim_612132_orphanet_238468_orphanet_98813 Ectodermal dysplasia and immunodeficiency 2 MONDO:MONDO:0012806,MedGen:C2677481,OMIM:612132,Orphanet:238468,Orphanet:98813 10 10 1.0000 condition_record_support_limited 20 0 2 Ectodermal_dysplasia_and_immunodeficiency_2 11 low_record_burden_interpretation_limited low_record_burden_gene NFKB1 mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 10 10 1.0000 condition_record_support_limited 20 0 6 Inherited_Immunodeficiency_Diseases 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFASC mondo_mondo_0032698_medgen_c5193049_omim_618356 Neurodevelopmental disorder with central and peripheral motor dysfunction MONDO:MONDO:0032698,MedGen:C5193049,OMIM:618356 10 10 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_central_and_peripheral_motor_dysfunction 13 low_record_burden_interpretation_limited low_record_burden_gene NEUROG3 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 4 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene NEK8 mondo_mondo_0971178_medgen_c5935640_omim_620903 Polycystic kidney disease 8 MONDO:MONDO:0971178,MedGen:C5935640,OMIM:620903 10 10 1.0000 condition_record_support_limited 20 0 10 Polycystic_kidney_disease_8 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEFL mondo_mondo_0011902_medgen_c1843164_omim_607734_orphanet_101085 Charcot-Marie-Tooth disease type 1F MONDO:MONDO:0011902,MedGen:C1843164,OMIM:607734,Orphanet:101085 10 10 1.0000 condition_record_support_limited 20 0 6 Charcot-Marie-Tooth_disease_type_1F 51 compact_adjacent_exon_block_opportunity local_compact_architecture NEFL mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 10 10 1.0000 condition_record_support_limited 20 0 6 Charcot-Marie-Tooth_disease 51 compact_adjacent_exon_block_opportunity local_compact_architecture NDUFS7 mondo_mondo_0032608_medgen_c4748752_omim_618224 Mitochondrial complex I deficiency, nuclear type 3 MONDO:MONDO:0032608,MedGen:C4748752,OMIM:618224 10 10 1.0000 condition_record_support_limited 20 0 4 Mitochondrial_complex_I_deficiency,_nuclear_type_3 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFS6 mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 Mitochondrial complex I deficiency MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 10 10 1.0000 condition_record_support_limited 20 0 7 Mitochondrial_complex_I_deficiency 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFS2 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 1 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene NDUFAF5 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 10 10 1.0000 condition_record_support_limited 20 0 9 Leigh_syndrome 117 compact_adjacent_exon_block_opportunity local_compact_architecture NDUFA9 mondo_mondo_0032630_medgen_c4748809_omim_618247 Mitochondrial complex I deficiency, nuclear type 26 MONDO:MONDO:0032630,MedGen:C4748809,OMIM:618247 10 10 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_I_deficiency,_nuclear_type_26 11 low_record_burden_interpretation_limited low_record_burden_gene NDUFA12 mondo_mondo_0032627_medgen_c4748799_omim_618244 Mitochondrial complex I deficiency, nuclear type 23 MONDO:MONDO:0032627,MedGen:C4748799,OMIM:618244 10 10 1.0000 condition_record_support_limited 20 0 4 Mitochondrial_complex_I_deficiency,_nuclear_type_23 14 low_record_burden_interpretation_limited low_record_burden_gene NDP mondo_mondo_0010588_medgen_c1844579_omim_305390_orphanet_891 Exudative vitreoretinopathy 2, X-linked MONDO:MONDO:0010588,MedGen:C1844579,OMIM:305390,Orphanet:891 10 10 1.0000 condition_record_support_limited 20 0 6 Exudative_vitreoretinopathy_2,_X-linked 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCF1 mondo_mondo_0009309_medgen_c1856251_omim_233700_orphanet_379 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 MONDO:MONDO:0009309,MedGen:C1856251,OMIM:233700,Orphanet:379 10 10 1.0000 condition_record_support_limited 20 0 5 Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_1 13 low_record_burden_interpretation_limited low_record_burden_gene NAXE mondo_mondo_0020781_medgen_c4310675_omim_617186_orphanet_555407 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:MONDO:0020781,MedGen:C4310675,OMIM:617186,Orphanet:555407 10 10 1.0000 condition_record_support_limited 20 0 2 Encephalopathy,_progressive,_early-onset,_with_brain_edema_and/or_leukoencephalopathy,_1 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NARS1 mondo_mondo_0100348_medgen_c5436783_omim_619091 Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities MONDO:MONDO:0100348,MedGen:C5436783,OMIM:619091 10 10 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_microcephaly,_impaired_language,_and_gait_abnormalities 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NANS condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 4 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene NADSYN1 mondo_mondo_0030077_medgen_c5394250_omim_618845 Vertebral, cardiac, renal, and limb defects syndrome 3 MONDO:MONDO:0030077,MedGen:C5394250,OMIM:618845 10 10 1.0000 condition_record_support_limited 20 0 5 Vertebral,_cardiac,_renal,_and_limb_defects_syndrome_3 13 low_record_burden_interpretation_limited low_record_burden_gene MYO5B mondo_mondo_0030810_medgen_c5676981_omim_619868 Cholestasis, progressive familial intrahepatic, 10 MONDO:MONDO:0030810,MedGen:C5676981,OMIM:619868 10 10 1.0000 condition_record_support_limited 20 0 2 Cholestasis,_progressive_familial_intrahepatic,_10 104 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO15A mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 10 10 1.0000 condition_record_support_limited 20 0 10 Nonsyndromic_genetic_hearing_loss 714 large_gene_or_donor_burden_stress_case donor_burden_stress MTRR condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 10 not_provided 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTOR mondo_mondo_0032908_medgen_c5394044_omim_618774_orphanet_693549 CEBALID syndrome MONDO:MONDO:0032908,MedGen:C5394044,OMIM:618774,Orphanet:693549 10 10 1.0000 condition_record_support_limited 20 0 6 CEBALID_syndrome 52 large_gene_or_donor_burden_stress_case donor_burden_stress MSTO1 condition_not_provided condition not provided .|MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 7 See_cases|not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene MSH2 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 10 10 1.0000 condition_record_support_limited 20 0 8 Gastric_cancer 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH2 mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 10 10 1.0000 condition_record_support_limited 20 0 7 Familial_cancer_of_breast 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MPL mpl_related_disorder MPL-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 9 MPL-related_disorder 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMP2 mondo_mondo_0018298_medgen_c1850155_orphanet_3460_orphanet_371428 Multicentric osteolysis nodulosis arthropathy spectrum MONDO:MONDO:0018298,MedGen:C1850155,Orphanet:3460,Orphanet:371428 10 10 1.0000 condition_record_support_limited 20 0 3 Multicentric_osteolysis_nodulosis_arthropathy_spectrum 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MLH1 mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 10 10 1.0000 condition_record_support_limited 20 0 7 Familial_cancer_of_breast 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MGME1 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 1 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene MFSD8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 10 10 1.0000 condition_record_support_limited 20 0 9 Inborn_genetic_diseases 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 mondo_mondo_0011002_medgen_cn305336_omim_601152 Neuropathy, hereditary motor and sensory, type 6A MONDO:MONDO:0011002,MedGen:CN305336,OMIM:601152 10 10 1.0000 condition_record_support_limited 20 0 10 Neuropathy,_hereditary_motor_and_sensory,_type_6A 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture METTL23 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 5 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEFV condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 10 10 1.0000 condition_record_support_limited 20 10 8 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEFV mondo_mondo_0007601_medgen_c1851347_omim_134610_orphanet_342 Familial Mediterranean fever, autosomal dominant MONDO:MONDO:0007601,MedGen:C1851347,OMIM:134610,Orphanet:342 10 10 1.0000 condition_record_support_limited 20 0 10 Familial_Mediterranean_fever,_autosomal_dominant 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED12 med12_related_disorder MED12-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 5 MED12-related_disorder 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MECR mondo_mondo_0015003_medgen_c4310634_omim_617282_orphanet_508093 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MONDO:MONDO:0015003,MedGen:C4310634,OMIM:617282,Orphanet:508093 10 10 1.0000 condition_record_support_limited 20 0 6 Dystonia,_childhood-onset,_with_optic_atrophy_and_basal_ganglia_abnormalities 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECOM condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 10 10 1.0000 condition_record_support_limited 20 10 3 not_provided 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MADD mondo_mondo_0033562_medgen_c5436585_omim_619005 Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia MONDO:MONDO:0033562,MedGen:C5436585,OMIM:619005 10 10 1.0000 condition_record_support_limited 20 0 5 Neurodevelopmental_disorder_with_dysmorphic_facies,_impaired_speech,_and_hypotonia 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LZTFL1 mondo_mondo_0014445_medgen_c3714980_omim_615994_orphanet_110 Bardet-Biedl syndrome 17 MONDO:MONDO:0014445,MedGen:C3714980,OMIM:615994,Orphanet:110 10 10 1.0000 condition_record_support_limited 20 0 4 Bardet-Biedl_syndrome_17 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LTBP2 mondo_mondo_0013122_medgen_c2751316_omim_613086_orphanet_98976 Glaucoma 3, primary congenital, D MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976 10 10 1.0000 condition_record_support_limited 20 0 6 Glaucoma_3,_primary_congenital,_D 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRSAM1 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 8 not_provided 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRRC56 hras_related_disorder HRAS-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 9 HRAS-related_disorder 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 human_phenotype_ontology_hp_0010816_mondo_mondo_0008093_medgen_c0334082_omim_162900_orphanet_79414 Epidermal nevus Human_Phenotype_Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414 10 10 1.0000 condition_record_support_limited 20 0 10 Epidermal_nevus 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRMDA condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 2 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene LOXHD1 mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 10 10 1.0000 condition_record_support_limited 20 0 8 Nonsyndromic_genetic_hearing_loss 443 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LONP2 mondo_mondo_0859144_medgen_c5543351_omim_619314 Buratti-Harel syndrome MONDO:MONDO:0859144,MedGen:C5543351,OMIM:619314 10 10 1.0000 condition_record_support_limited 20 0 2 Buratti-Harel_syndrome 19 low_record_burden_interpretation_limited low_record_burden_gene LDLRAP1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 10 10 1.0000 condition_record_support_limited 20 10 7 See_cases|not_provided 68 compact_adjacent_exon_block_opportunity local_compact_architecture LDLRAP1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 10 10 1.0000 condition_record_support_limited 20 0 9 Cardiovascular_phenotype 68 compact_adjacent_exon_block_opportunity local_compact_architecture LCA5 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 10 10 1.0000 condition_record_support_limited 20 0 8 Retinal_dystrophy 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMP2 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 10 10 1.0000 condition_record_support_limited 20 0 8 Hypertrophic_cardiomyopathy 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRT5 krt5_related_disorder KRT5-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 9 KRT5-related_disorder 96 compact_adjacent_exon_block_opportunity local_compact_architecture KRT2 mondo_mondo_0007813_medgen_c0432306_omim_146800_orphanet_455 Ichthyosis bullosa of Siemens MONDO:MONDO:0007813,MedGen:C0432306,OMIM:146800,Orphanet:455 10 10 1.0000 condition_record_support_limited 20 0 7 Ichthyosis_bullosa_of_Siemens 11 low_record_burden_interpretation_limited low_record_burden_gene KRT10 mondo_mondo_0700248_medgen_c5882671_omim_620150 Epidermolytic hyperkeratosis 2A, autosomal dominant MONDO:MONDO:0700248,MedGen:C5882671,OMIM:620150 10 10 1.0000 condition_record_support_limited 20 0 10 Epidermolytic_hyperkeratosis_2A,_autosomal_dominant 41 compact_adjacent_exon_block_opportunity local_compact_architecture KRT10 mondo_mondo_0012208_medgen_c3665704_omim_609165_orphanet_281190 Congenital reticular ichthyosiform erythroderma MONDO:MONDO:0012208,MedGen:C3665704,OMIM:609165,Orphanet:281190 10 10 1.0000 condition_record_support_limited 20 0 3 Congenital_reticular_ichthyosiform_erythroderma 41 compact_adjacent_exon_block_opportunity local_compact_architecture KRAS kras_related_disorder KRAS-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 9 KRAS-related_disorder 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KNL1 mondo_mondo_0011437_medgen_c1858516_omim_604321_orphanet_2512 Microcephaly 4, primary, autosomal recessive MONDO:MONDO:0011437,MedGen:C1858516,OMIM:604321,Orphanet:2512 10 10 1.0000 condition_record_support_limited 20 0 0 Microcephaly_4,_primary,_autosomal_recessive 22 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KLF1 medgen_c1292231_omim_111150 BLOOD GROUP--LUTHERAN INHIBITOR MedGen:C1292231,OMIM:111150 10 10 1.0000 condition_record_support_limited 20 0 5 BLOOD_GROUP--LUTHERAN_INHIBITOR 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF5C mondo_mondo_0014116_medgen_c3809013_omim_615282 Complex cortical dysplasia with other brain malformations 2 MONDO:MONDO:0014116,MedGen:C3809013,OMIM:615282 10 10 1.0000 condition_record_support_limited 20 0 5 Complex_cortical_dysplasia_with_other_brain_malformations_2 10 low_record_burden_interpretation_limited low_record_burden_gene KIF21A mondo_mondo_0021083_medgen_c1851102_omim_135700 Congenital fibrosis of extraocular muscles type 1 MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700 10 10 1.0000 condition_record_support_limited 20 0 3 Congenital_fibrosis_of_extraocular_muscles_type_1 15 low_record_burden_interpretation_limited low_record_burden_gene KIF1A kif1a_related_disorder KIF1A-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 7 KIF1A-related_disorder 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIAA0753 mondo_mondo_0030356_medgen_c5561961_omim_619479 Short-rib thoracic dysplasia 21 without polydactyly MONDO:MONDO:0030356,MedGen:C5561961,OMIM:619479 10 10 1.0000 condition_record_support_limited 20 0 8 Short-rib_thoracic_dysplasia_21_without_polydactyly 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KERA mondo_mondo_0009014_medgen_c1857574_omim_217300_orphanet_53691 Cornea plana 2 MONDO:MONDO:0009014,MedGen:C1857574,OMIM:217300,Orphanet:53691 10 10 1.0000 condition_record_support_limited 20 0 2 Cornea_plana_2 15 low_record_burden_interpretation_limited low_record_burden_gene KDM2B condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 3 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene KCNQ1OT1 mondo_mondo_0100316_medgen_c4551647_omim_192500_orphanet_101016_orphanet_768 Long QT syndrome 1 MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768 10 10 1.0000 condition_record_support_limited 20 0 4 Long_QT_syndrome_1 19 low_record_burden_interpretation_limited low_record_burden_gene KCNN2 mondo_mondo_0859225_medgen_c5676908_omim_619725 Neurodevelopmental disorder with or without variable movement or behavioral abnormalities MONDO:MONDO:0859225,MedGen:C5676908,OMIM:619725 10 10 1.0000 condition_record_support_limited 20 0 7 Neurodevelopmental_disorder_with_or_without_variable_movement_or_behavioral_abnormalities 19 low_record_burden_interpretation_limited low_record_burden_gene KCNH1 mondo_mondo_0024526_medgen_c4551773_omim_135500_orphanet_3473 Zimmermann-Laband syndrome 1 MONDO:MONDO:0024526,MedGen:C4551773,OMIM:135500,Orphanet:3473 10 10 1.0000 condition_record_support_limited 20 0 4 Zimmermann-Laband_syndrome_1 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JMJD8 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 8 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA8 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 10 10 1.0000 condition_record_support_limited 20 10 1 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IQCB1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 10 10 1.0000 condition_record_support_limited 20 0 8 Retinal_dystrophy 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INS mondo_mondo_0016391_medgen_c0158981_orphanet_224 Neonatal diabetes mellitus MONDO:MONDO:0016391,MedGen:C0158981,Orphanet:224 10 10 1.0000 condition_record_support_limited 20 0 5 Neonatal_diabetes_mellitus 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INPP5K mondo_mondo_0024607_medgen_c4479410_omim_617404_orphanet_662184 Congenital muscular dystrophy with cataracts and intellectual disability MONDO:MONDO:0024607,MedGen:C4479410,OMIM:617404,Orphanet:662184 10 10 1.0000 condition_record_support_limited 20 0 1 Congenital_muscular_dystrophy_with_cataracts_and_intellectual_disability 11 low_record_burden_interpretation_limited low_record_burden_gene INF2 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 10 10 1.0000 condition_record_support_limited 20 0 10 Charcot-Marie-Tooth_disease 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPG2 mondo_mondo_0014509_medgen_c4015343_omim_616152_orphanet_99000 Vitelliform macular dystrophy 5 MONDO:MONDO:0014509,MedGen:C4015343,OMIM:616152,Orphanet:99000 10 10 1.0000 condition_record_support_limited 20 0 9 Vitelliform_macular_dystrophy_5 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL36RN mondo_mondo_0100491_medgen_c0343055_orphanet_247353 Generalized pustular psoriasis MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353 10 10 1.0000 condition_record_support_limited 20 0 2 Generalized_pustular_psoriasis 13 low_record_burden_interpretation_limited low_record_burden_gene IL1RAPL1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 10 10 1.0000 condition_record_support_limited 20 10 3 See_cases|not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL11RA mondo_mondo_0013615_medgen_c3280073_omim_614188_orphanet_284149 Craniosynostosis and dental anomalies MONDO:MONDO:0013615,MedGen:C3280073,OMIM:614188,Orphanet:284149 10 10 1.0000 condition_record_support_limited 20 0 3 Craniosynostosis_and_dental_anomalies 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IKZF1 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 3 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IKBKG mondo_mondo_0010386_medgen_c1970879_omim_300636_orphanet_319605_orphanet_319612 Immunodeficiency 33 MONDO:MONDO:0010386,MedGen:C1970879,OMIM:300636,Orphanet:319605,Orphanet:319612 10 10 1.0000 condition_record_support_limited 20 0 3 Immunodeficiency_33 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT43 mondo_mondo_0013573_medgen_c3279807_omim_614099_orphanet_1515 Cranioectodermal dysplasia 3 MONDO:MONDO:0013573,MedGen:C3279807,OMIM:614099,Orphanet:1515 10 10 1.0000 condition_record_support_limited 20 0 9 Cranioectodermal_dysplasia_3 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFNGR2 mondo_mondo_0013953_medgen_c4013947_omim_614889_orphanet_319547_orphanet_319574 Immunodeficiency 28 MONDO:MONDO:0013953,MedGen:C4013947,OMIM:614889,Orphanet:319547,Orphanet:319574 10 10 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_28 10 low_record_burden_interpretation_limited low_record_burden_gene HRAS hras_related_disorder HRAS-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 9 HRAS-related_disorder 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS human_phenotype_ontology_hp_0010816_mondo_mondo_0008093_medgen_c0334082_omim_162900_orphanet_79414 Epidermal nevus Human_Phenotype_Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414 10 10 1.0000 condition_record_support_limited 20 0 10 Epidermal_nevus 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPSE2 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 6 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HGSNAT human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 10 10 1.0000 condition_record_support_limited 20 0 10 Retinal_dystrophy 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HCN2 hcn2_related_developmental_and_epileptic_encephalopathy HCN2 related developmental and epileptic encephalopathy . 10 10 1.0000 condition_record_support_limited 20 0 2 HCN2_related_developmental_and_epileptic_encephalopathy 13 low_record_burden_interpretation_limited low_record_burden_gene HCCS mondo_mondo_0024552_medgen_c0796070_omim_309801_orphanet_2556 Linear skin defects with multiple congenital anomalies 1 MONDO:MONDO:0024552,MedGen:C0796070,OMIM:309801,Orphanet:2556 10 10 1.0000 condition_record_support_limited 20 0 1 Linear_skin_defects_with_multiple_congenital_anomalies_1 11 low_record_burden_interpretation_limited low_record_burden_gene HACD1 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 1 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene H3-3A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 10 10 1.0000 condition_record_support_limited 20 10 6 not_provided|not_specified 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRXCR1 mondo_mondo_0013210_medgen_c1414017_omim_613285_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 25 MONDO:MONDO:0013210,MedGen:C1414017,OMIM:613285,Orphanet:90636 10 10 1.0000 condition_record_support_limited 20 0 4 Autosomal_recessive_nonsyndromic_hearing_loss_25 17 low_record_burden_interpretation_limited low_record_burden_gene GRIN2A mondo_mondo_0007295_medgen_c0376532_orphanet_1945 Self-limited epilepsy with centrotemporal spikes MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 10 10 1.0000 condition_record_support_limited 20 0 8 Self-limited_epilepsy_with_centrotemporal_spikes 291 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 10 10 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 291 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRHL3 mondo_mondo_0011712_medgen_c1847604_omim_606713_orphanet_888 Van der Woude syndrome 2 MONDO:MONDO:0011712,MedGen:C1847604,OMIM:606713,Orphanet:888 10 10 1.0000 condition_record_support_limited 20 0 1 Van_der_Woude_syndrome_2 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 10 10 1.0000 condition_record_support_limited 20 10 6 not_provided 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLUD1 mondo_mondo_0011717_medgen_c1847555_omim_606762_orphanet_35878 Hyperinsulinism-hyperammonemia syndrome MONDO:MONDO:0011717,MedGen:C1847555,OMIM:606762,Orphanet:35878 10 10 1.0000 condition_record_support_limited 20 0 5 Hyperinsulinism-hyperammonemia_syndrome 15 low_record_burden_interpretation_limited low_record_burden_gene GK human_phenotype_ontology_hp_0040302_mondo_mondo_0010613_medgen_c0268418_omim_307030_orphanet_308993_orphanet_408 Inborn glycerol kinase deficiency Human_Phenotype_Ontology:HP:0040302,MONDO:MONDO:0010613,MedGen:C0268418,OMIM:307030,Orphanet:308993,Orphanet:408 10 10 1.0000 condition_record_support_limited 20 0 1 Inborn_glycerol_kinase_deficiency 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GFPT1 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 6 not_provided 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GFM2 mondo_mondo_0032726_medgen_c5193075_omim_618397_orphanet_565624 Combined oxidative phosphorylation deficiency 39 MONDO:MONDO:0032726,MedGen:C5193075,OMIM:618397,Orphanet:565624 10 10 1.0000 condition_record_support_limited 20 0 3 Combined_oxidative_phosphorylation_deficiency_39 15 low_record_burden_interpretation_limited low_record_burden_gene GDI1 mondo_mondo_0010451_medgen_c3887939_omim_300849_orphanet_777 Intellectual disability, X-linked 41 MONDO:MONDO:0010451,MedGen:C3887939,OMIM:300849,Orphanet:777 10 10 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_X-linked_41 15 low_record_burden_interpretation_limited low_record_burden_gene GDF5 human_phenotype_ontology_hp_0009373_mondo_mondo_0007221_medgen_c1862103_omim_113100_orphanet_93384 Brachydactyly type C Human_Phenotype_Ontology:HP:0009373,MONDO:MONDO:0007221,MedGen:C1862103,OMIM:113100,Orphanet:93384 10 10 1.0000 condition_record_support_limited 20 0 5 Brachydactyly_type_C 52 compact_adjacent_exon_block_opportunity local_compact_architecture GDF1 human_phenotype_ontology_hp_0011536_mondo_mondo_0008832_medgen_c3178806_omim_208530_orphanet_97548 Right atrial isomerism Human_Phenotype_Ontology:HP:0011536,MONDO:MONDO:0008832,MedGen:C3178806,OMIM:208530,Orphanet:97548 10 10 1.0000 condition_record_support_limited 20 0 6 Right_atrial_isomerism 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCK mondo_mondo_0100164_medgen_c1833104_omim_ps606176_orphanet_99885 Permanent neonatal diabetes mellitus MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885 10 10 1.0000 condition_record_support_limited 20 0 10 Permanent_neonatal_diabetes_mellitus 655 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA1 gba1_related_disorder GBA1-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 9 GBA1-related_disorder 360 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATAD1 mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 Peroxisome biogenesis disorder MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 10 10 1.0000 condition_record_support_limited 20 0 8 Peroxisome_biogenesis_disorder 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GARS1 mondo_mondo_0011091_medgen_c1832274_omim_601472_orphanet_99938 Charcot-Marie-Tooth disease type 2D MONDO:MONDO:0011091,MedGen:C1832274,OMIM:601472,Orphanet:99938 10 10 1.0000 condition_record_support_limited 20 0 8 Charcot-Marie-Tooth_disease_type_2D 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRG2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 10 10 1.0000 condition_record_support_limited 20 0 8 Inborn_genetic_diseases 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FRA10AC1 mondo_mondo_0859312_medgen_c5774251_omim_620113 Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities MONDO:MONDO:0859312,MedGen:C5774251,OMIM:620113 10 10 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_growth_retardation,_dysmorphic_facies,_and_corpus_callosum_abnormalities 11 low_record_burden_interpretation_limited low_record_burden_gene FOLR1 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 4 not_provided 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLT4 flt4_related_disorder FLT4-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 4 FLT4-related_disorder 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLNC efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 10 10 1.0000 condition_record_support_limited 20 0 10 Primary_dilated_cardiomyopathy 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLCN gene_100038247_mondo_mondo_0012574_medgen_c2931246_omim_610883_orphanet_1713 17p11.2 microduplication syndrome Gene:100038247,MONDO:MONDO:0012574,MedGen:C2931246,OMIM:610883,Orphanet:1713 10 10 1.0000 condition_record_support_limited 20 0 10 17p11.2_microduplication_syndrome 425 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FKRP mondo_mondo_0009364_medgen_c4284790_omim_236670_orphanet_588_orphanet_899 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899 10 10 1.0000 condition_record_support_limited 20 0 10 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKBP10 mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 Osteogenesis imperfecta MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 10 10 1.0000 condition_record_support_limited 20 0 9 Osteogenesis_imperfecta 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 mondo_mondo_0007872_medgen_c0265269_omim_ps149730_orphanet_2363 Levy-Hollister syndrome MONDO:MONDO:0007872,MedGen:C0265269,OMIM:PS149730,Orphanet:2363 10 10 1.0000 condition_record_support_limited 20 0 10 Levy-Hollister_syndrome 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXW7 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 4 not_provided 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETHE1 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 7 not_provided 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ESRRB mondo_mondo_0012060_medgen_c1837857_omim_608565_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 35 MONDO:MONDO:0012060,MedGen:C1837857,OMIM:608565,Orphanet:90636 10 10 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_nonsyndromic_hearing_loss_35 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERBB2 human_phenotype_ontology_hp_0030358_mondo_mondo_0005233_mesh_d002289_medgen_c0007131 Non-small cell lung carcinoma Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131 10 10 1.0000 condition_record_support_limited 20 0 3 Non-small_cell_lung_carcinoma 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPRS1 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 2 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene EP300 mondo_mondo_0008393_medgen_c4551859_omim_180849_orphanet_353277_orphanet_783 Rubinstein-Taybi syndrome due to CREBBP mutations MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783 10 10 1.0000 condition_record_support_limited 20 0 3 Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations 264 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ELN mondo_mondo_0007411_medgen_c3276539_omim_123700_orphanet_90348 Cutis laxa, autosomal dominant 1 MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700,Orphanet:90348 10 10 1.0000 condition_record_support_limited 20 0 7 Cutis_laxa,_autosomal_dominant_1 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELAC2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 10 10 1.0000 condition_record_support_limited 20 10 8 not_provided 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2B4 mondo_mondo_0800448_medgen_c1858991_omim_ps603896_orphanet_135_orphanet_99853 Vanishing white matter disease MONDO:MONDO:0800448,MedGen:C1858991,OMIM:PS603896,Orphanet:135,Orphanet:99853 10 10 1.0000 condition_record_support_limited 20 0 4 Vanishing_white_matter_disease 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EED mondo_mondo_0060510_medgen_c4479654_omim_617561_orphanet_659396 Cohen-Gibson syndrome MONDO:MONDO:0060510,MedGen:C4479654,OMIM:617561,Orphanet:659396 10 10 1.0000 condition_record_support_limited 20 0 1 Cohen-Gibson_syndrome 13 low_record_burden_interpretation_limited low_record_burden_gene DTNBP1 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 4 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene DST mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 10 10 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 196 large_gene_or_donor_burden_stress_case donor_burden_stress DSG2 mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 Arrhythmogenic right ventricular cardiomyopathy MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 10 10 1.0000 condition_record_support_limited 20 0 7 Arrhythmogenic_right_ventricular_cardiomyopathy 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT3A mondo_mondo_0032882_medgen_c5231475_omim_618724_orphanet_658595 Heyn-Sproul-Jackson syndrome MONDO:MONDO:0032882,MedGen:C5231475,OMIM:618724,Orphanet:658595 10 10 1.0000 condition_record_support_limited 20 0 6 Heyn-Sproul-Jackson_syndrome 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT3A dnmt3a_related_disorder DNMT3A-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 5 DNMT3A-related_disorder 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNASE1L3 mondo_mondo_0013743_medgen_c3280742_omim_614420_orphanet_300345 Autosomal systemic lupus erythematosus type 16 MONDO:MONDO:0013743,MedGen:C3280742,OMIM:614420,Orphanet:300345 10 10 1.0000 condition_record_support_limited 20 0 5 Autosomal_systemic_lupus_erythematosus_type_16 18 low_record_burden_interpretation_limited low_record_burden_gene DNAAF5 mondo_mondo_0013940_medgen_c3543825_omim_614874_orphanet_244 Primary ciliary dyskinesia 18 MONDO:MONDO:0013940,MedGen:C3543825,OMIM:614874,Orphanet:244 10 10 1.0000 condition_record_support_limited 20 0 7 Primary_ciliary_dyskinesia_18 50 compact_adjacent_exon_block_opportunity local_compact_architecture DKC1 mondo_mondo_0015780_medgen_c0265965_omim_ps127550_orphanet_1775 Dyskeratosis congenita MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775 10 10 1.0000 condition_record_support_limited 20 0 6 Dyskeratosis_congenita 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHX30 condition_not_provided condition not provided .|MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 4 See_cases|not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene DHFR mondo_mondo_0044300_medgen_c4310719_omim_617100_orphanet_480536 Familial adenomatous polyposis 4 MONDO:MONDO:0044300,MedGen:C4310719,OMIM:617100,Orphanet:480536 10 10 1.0000 condition_record_support_limited 20 0 5 Familial_adenomatous_polyposis_4 43 compact_adjacent_exon_block_opportunity local_compact_architecture DHDDS mondo_mondo_0044326_medgen_c4693376_omim_617836 Developmental delay and seizures with or without movement abnormalities MONDO:MONDO:0044326,MedGen:C4693376,OMIM:617836 10 10 1.0000 condition_record_support_limited 20 0 9 Developmental_delay_and_seizures_with_or_without_movement_abnormalities 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DES mondo_mondo_0008407_medgen_c1867005_omim_181400_orphanet_85146 Neurogenic scapuloperoneal syndrome, Kaeser type MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400,Orphanet:85146 10 10 1.0000 condition_record_support_limited 20 0 10 Neurogenic_scapuloperoneal_syndrome,_Kaeser_type 123 compact_adjacent_exon_block_opportunity local_compact_architecture DDX3X ddx3x_related_disorder DDX3X-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 6 DDX3X-related_disorder 366 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCTN1 mondo_mondo_0007103_medgen_c1862939_omim_105400_orphanet_803 Amyotrophic lateral sclerosis type 1 MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803 10 10 1.0000 condition_record_support_limited 20 0 10 Amyotrophic_lateral_sclerosis_type_1 14 low_record_burden_interpretation_limited low_record_burden_gene DCT mondo_mondo_0030899_medgen_c5436929_omim_619165_orphanet_597733 Oculocutaneous albinism type 8 MONDO:MONDO:0030899,MedGen:C5436929,OMIM:619165,Orphanet:597733 10 10 1.0000 condition_record_support_limited 20 0 3 Oculocutaneous_albinism_type_8 11 low_record_burden_interpretation_limited low_record_burden_gene CYP1B1 mondo_mondo_0010968_medgen_c1832977_omim_600975_orphanet_98976 Glaucoma 3, primary infantile, B MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975,Orphanet:98976 10 10 1.0000 condition_record_support_limited 20 0 10 Glaucoma_3,_primary_infantile,_B 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYGB condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 6 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene CYBA condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 8 not_provided 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYB5R3 medgen_c2749560 METHEMOGLOBINEMIA, TYPE II MedGen:C2749560 10 10 1.0000 condition_record_support_limited 20 0 3 METHEMOGLOBINEMIA,_TYPE_II 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 10 10 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTR9 mondo_mondo_1040006_medgen_cn378764 CTR9-related neurodevelopmental disorder MONDO:MONDO:1040006,MedGen:CN378764 10 10 1.0000 condition_record_support_limited 20 0 3 CTR9-related_neurodevelopmental_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene CTNNB1 human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Hepatocellular carcinoma Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 10 10 1.0000 condition_record_support_limited 20 0 9 Hepatocellular_carcinoma 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSGALNACT1 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 0 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene CRYGD mondo_mondo_0007281_medgen_c3540850_omim_115700_orphanet_1377 Cataract 4 multiple types MONDO:MONDO:0007281,MedGen:C3540850,OMIM:115700,Orphanet:1377 10 10 1.0000 condition_record_support_limited 20 0 7 Cataract_4_multiple_types 17 low_record_burden_interpretation_limited low_record_burden_gene CRYGD human_phenotype_ontology_hp_0010926_medgen_c1861832 Aculeiform cataract Human_Phenotype_Ontology:HP:0010926,MedGen:C1861832 10 10 1.0000 condition_record_support_limited 20 0 8 Aculeiform_cataract 17 low_record_burden_interpretation_limited low_record_burden_gene CRYBB1 mondo_mondo_0012688_medgen_c3888124_omim_611544_orphanet_91492 Cataract 17 multiple types MONDO:MONDO:0012688,MedGen:C3888124,OMIM:611544,Orphanet:91492 10 10 1.0000 condition_record_support_limited 20 0 2 Cataract_17_multiple_types 14 low_record_burden_interpretation_limited low_record_burden_gene CRYBA4 mondo_mondo_0012688_medgen_c3888124_omim_611544_orphanet_91492 Cataract 17 multiple types MONDO:MONDO:0012688,MedGen:C3888124,OMIM:611544,Orphanet:91492 10 10 1.0000 condition_record_support_limited 20 0 2 Cataract_17_multiple_types 20 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture CREB3L1 mondo_mondo_0014544_medgen_c4015610_omim_616229_orphanet_666 Osteogenesis imperfecta type 16 MONDO:MONDO:0014544,MedGen:C4015610,OMIM:616229,Orphanet:666 10 10 1.0000 condition_record_support_limited 20 0 1 Osteogenesis_imperfecta_type_16 15 low_record_burden_interpretation_limited low_record_burden_gene CRB1 medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 10 10 1.0000 condition_record_support_limited 20 0 9 Autosomal_recessive_retinitis_pigmentosa 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A3 mondo_mondo_0031047_medgen_c5774207_omim_620022 Stickler syndrome, type 6 MONDO:MONDO:0031047,MedGen:C5774207,OMIM:620022 10 10 1.0000 condition_record_support_limited 20 0 5 Stickler_syndrome,_type_6 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A3 mondo_mondo_0010964_medgen_c1832998_omim_600969 Epiphyseal dysplasia, multiple, 3 MONDO:MONDO:0010964,MedGen:C1832998,OMIM:600969 10 10 1.0000 condition_record_support_limited 20 0 3 Epiphyseal_dysplasia,_multiple,_3 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A3 mondo_mondo_0958234_medgen_c5935581_omim_620726 Bethlem myopathy 1C MONDO:MONDO:0958234,MedGen:C5935581,OMIM:620726 10 10 1.0000 condition_record_support_limited 20 0 6 Bethlem_myopathy_1C 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL5A2 mondo_mondo_0007522_medgen_c4225429_orphanet_287 Ehlers-Danlos syndrome, classic type MONDO:MONDO:0007522,MedGen:C4225429,Orphanet:287 10 10 1.0000 condition_record_support_limited 20 0 2 Ehlers-Danlos_syndrome,_classic_type 62 large_gene_or_donor_burden_stress_case donor_burden_stress COL3A1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 10 10 1.0000 condition_record_support_limited 20 0 7 Cardiovascular_phenotype 937 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 10 10 1.0000 condition_record_support_limited 20 0 9 Cardiovascular_phenotype 722 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A2 col11a2_related_disorder COL11A2-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 6 COL11A2-related_disorder 197 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A1 mondo_mondo_0009226_medgen_c3278138_omim_228520_orphanet_2021 Fibrochondrogenesis 1 MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520,Orphanet:2021 10 10 1.0000 condition_record_support_limited 20 0 8 Fibrochondrogenesis_1 248 large_gene_or_donor_burden_stress_case donor_burden_stress CLCN2 clcn2_related_disorder CLCN2-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 6 CLCN2-related_disorder 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHST14 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 7 not_provided 37 single_exon_hotspot_opportunity local_compact_architecture CHRND mondo_mondo_0014584_medgen_c4225371_omim_616322_orphanet_590 Congenital myasthenic syndrome 3B MONDO:MONDO:0014584,MedGen:C4225371,OMIM:616322,Orphanet:590 10 10 1.0000 condition_record_support_limited 20 0 6 Congenital_myasthenic_syndrome_3B 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNA3 mondo_mondo_0008630_medgen_c5231389_omim_191800 Urinary bladder, atony of MONDO:MONDO:0008630,MedGen:C5231389,OMIM:191800 10 10 1.0000 condition_record_support_limited 20 0 5 Urinary_bladder,_atony_of 16 low_record_burden_interpretation_limited low_record_burden_gene CHRNA1 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 5 not_provided 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNA1 mondo_mondo_0012156_medgen_c4225405_omim_608930_orphanet_590 Myasthenic syndrome, congenital, 1B, fast-channel MONDO:MONDO:0012156,MedGen:C4225405,OMIM:608930,Orphanet:590 10 10 1.0000 condition_record_support_limited 20 0 4 Myasthenic_syndrome,_congenital,_1B,_fast-channel 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHN1 mondo_mondo_0011444_medgen_c0751083_omim_604356_orphanet_233 Duane retraction syndrome 2 MONDO:MONDO:0011444,MedGen:C0751083,OMIM:604356,Orphanet:233 10 10 1.0000 condition_record_support_limited 20 0 1 Duane_retraction_syndrome_2 13 low_record_burden_interpretation_limited low_record_burden_gene CFAP74 mondo_mondo_0859353_medgen_c5774291_omim_620197 Ciliary dyskinesia, primary, 49, without situs inversus MONDO:MONDO:0859353,MedGen:C5774291,OMIM:620197 10 10 1.0000 condition_record_support_limited 20 0 1 Ciliary_dyskinesia,_primary,_49,_without_situs_inversus 12 low_record_burden_interpretation_limited low_record_burden_gene CFAP44 mondo_mondo_0054724_medgen_c4539824_omim_617593 Spermatogenic failure 20 MONDO:MONDO:0054724,MedGen:C4539824,OMIM:617593 10 10 1.0000 condition_record_support_limited 20 0 1 Spermatogenic_failure_20 15 low_record_burden_interpretation_limited low_record_burden_gene CFAP300 mondo_mondo_0054843_medgen_c4748052_omim_618063 Ciliary dyskinesia, primary, 38 MONDO:MONDO:0054843,MedGen:C4748052,OMIM:618063 10 10 1.0000 condition_record_support_limited 20 0 8 Ciliary_dyskinesia,_primary,_38 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP251 mondo_mondo_0029147_medgen_c4748395_omim_618152 Spermatogenic failure 33 MONDO:MONDO:0029147,MedGen:C4748395,OMIM:618152 10 10 1.0000 condition_record_support_limited 20 0 5 Spermatogenic_failure_33 10 low_record_burden_interpretation_limited low_record_burden_gene CERS3 mondo_mondo_0014010_medgen_c3554349_omim_615023_orphanet_79394 Autosomal recessive congenital ichthyosis 9 MONDO:MONDO:0014010,MedGen:C3554349,OMIM:615023,Orphanet:79394 10 10 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_congenital_ichthyosis_9 19 low_record_burden_interpretation_limited low_record_burden_gene CERS1 human_phenotype_ontology_hp_0011536_mondo_mondo_0008832_medgen_c3178806_omim_208530_orphanet_97548 Right atrial isomerism Human_Phenotype_Ontology:HP:0011536,MONDO:MONDO:0008832,MedGen:C3178806,OMIM:208530,Orphanet:97548 10 10 1.0000 condition_record_support_limited 20 0 6 Right_atrial_isomerism 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP85L mondo_mondo_0012362_medgen_c1835928_omim_609909_orphanet_154 Dilated cardiomyopathy 1P MONDO:MONDO:0012362,MedGen:C1835928,OMIM:609909,Orphanet:154 10 10 1.0000 condition_record_support_limited 20 0 3 Dilated_cardiomyopathy_1P 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP290 mondo_mondo_0008944_medgen_c4551568_omim_213300 Joubert syndrome 1 MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300 10 10 1.0000 condition_record_support_limited 20 0 6 Joubert_syndrome_1 949 large_gene_or_donor_burden_stress_case donor_burden_stress CELF2 mondo_mondo_0030453_medgen_c5561999_omim_619561 Developmental and epileptic encephalopathy 97 MONDO:MONDO:0030453,MedGen:C5561999,OMIM:619561 10 10 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy_97 15 low_record_burden_interpretation_limited low_record_burden_gene CDT1 mondo_mondo_0013431_medgen_c3151120_omim_613804_orphanet_2554 Meier-Gorlin syndrome 4 MONDO:MONDO:0013431,MedGen:C3151120,OMIM:613804,Orphanet:2554 10 10 1.0000 condition_record_support_limited 20 0 2 Meier-Gorlin_syndrome_4 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 human_phenotype_ontology_hp_0030502_mondo_mondo_0004579_medgen_c0152439 Retinoschisis Human_Phenotype_Ontology:HP:0030502,MONDO:MONDO:0004579,MedGen:C0152439 10 10 1.0000 condition_record_support_limited 20 0 8 Retinoschisis 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH23 cdh23_related_disorder CDH23-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 7 CDH23-related_disorder 725 large_gene_or_donor_burden_stress_case donor_burden_stress CDH2 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 4 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC14A mondo_mondo_0012091_medgen_c1837608_omim_608653_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 32 MONDO:MONDO:0012091,MedGen:C1837608,OMIM:608653,Orphanet:90636 10 10 1.0000 condition_record_support_limited 20 0 6 Autosomal_recessive_nonsyndromic_hearing_loss_32 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDAN1 mondo_mondo_0020337_medgen_c0271933_orphanet_98869 Congenital dyserythropoietic anemia, type I MONDO:MONDO:0020337,MedGen:C0271933,Orphanet:98869 10 10 1.0000 condition_record_support_limited 20 0 7 Congenital_dyserythropoietic_anemia,_type_I 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD55 mondo_mondo_0009174_medgen_c4538570_omim_226300_orphanet_566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome MONDO:MONDO:0009174,MedGen:C4538570,OMIM:226300,Orphanet:566175 10 10 1.0000 condition_record_support_limited 20 0 2 Complement_hyperactivation-angiopathic_thrombosis-protein-losing_enteropathy_syndrome 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD40 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 0 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene CCND2 mondo_mondo_0014408_medgen_c4014742_omim_615938_orphanet_83473 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MONDO:MONDO:0014408,MedGen:C4014742,OMIM:615938,Orphanet:83473 10 10 1.0000 condition_record_support_limited 20 0 7 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_3 17 low_record_burden_interpretation_limited low_record_burden_gene CAST pcsk1_related_disorder PCSK1-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 1 PCSK1-related_disorder 51 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture CARD14 mondo_mondo_0011269_medgen_c1864497_omim_602723 Psoriasis 2 MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723 10 10 1.0000 condition_record_support_limited 20 0 9 Psoriasis_2 16 low_record_burden_interpretation_limited low_record_burden_gene CAMK2A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 10 10 1.0000 condition_record_support_limited 20 10 3 not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNA1G mondo_mondo_0060758_medgen_c4748120_omim_618087 Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits MONDO:MONDO:0060758,MedGen:C4748120,OMIM:618087 10 10 1.0000 condition_record_support_limited 20 0 4 Spinocerebellar_ataxia_42,_early-onset,_severe,_with_neurodevelopmental_deficits 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1E mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 10 10 1.0000 condition_record_support_limited 20 0 10 Developmental_and_epileptic_encephalopathy 33 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CA8 mondo_mondo_0013188_medgen_c2750509_omim_613227_orphanet_1766 Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 MONDO:MONDO:0013188,MedGen:C2750509,OMIM:613227,Orphanet:1766 10 10 1.0000 condition_record_support_limited 20 0 0 Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_3 10 low_record_burden_interpretation_limited low_record_burden_gene C8B mondo_mondo_0013421_medgen_c3151080_omim_613789 Type II complement component 8 deficiency MONDO:MONDO:0013421,MedGen:C3151080,OMIM:613789 10 10 1.0000 condition_record_support_limited 20 0 7 Type_II_complement_component_8_deficiency 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C5 mondo_mondo_0012295_medgen_c0343047_omim_609536 Complement component 5 deficiency MONDO:MONDO:0012295,MedGen:C0343047,OMIM:609536 10 10 1.0000 condition_record_support_limited 20 0 5 Complement_component_5_deficiency 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C3 mondo_mondo_0016244_medgen_c2931788_orphanet_2134 Atypical hemolytic-uremic syndrome MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134 10 10 1.0000 condition_record_support_limited 20 0 5 Atypical_hemolytic-uremic_syndrome 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C1QA condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 3 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene C11ORF65 medgen_c3469522 Breast cancer, susceptibility to MedGen:C3469522 10 10 1.0000 condition_record_support_limited 20 0 10 Breast_cancer,_susceptibility_to 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BUB1B mondo_mondo_0008304_medgen_c1864389_omim_176430 Premature chromatid separation trait MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430 10 10 1.0000 condition_record_support_limited 20 0 9 Premature_chromatid_separation_trait 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BTD mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 10 10 1.0000 condition_record_support_limited 20 0 10 Inborn_genetic_diseases 251 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMPER condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 2 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMPER mondo_mondo_0011946_medgen_c1842691_omim_608022_orphanet_66637 Diaphanospondylodysostosis MONDO:MONDO:0011946,MedGen:C1842691,OMIM:608022,Orphanet:66637 10 10 1.0000 condition_record_support_limited 20 0 1 Diaphanospondylodysostosis 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMP2 mondo_mondo_0100297_medgen_c5542952_omim_617877 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 MONDO:MONDO:0100297,MedGen:C5542952,OMIM:617877 10 10 1.0000 condition_record_support_limited 20 0 6 Short_stature,_facial_dysmorphism,_and_skeletal_anomalies_with_or_without_cardiac_anomalies_1 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BLTP1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 10 10 1.0000 condition_record_support_limited 20 10 1 not_provided 53 large_gene_or_donor_burden_stress_case donor_burden_stress BBS12 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 10 10 1.0000 condition_record_support_limited 20 0 8 Retinal_dystrophy 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6AP1 mondo_mondo_0010504_medgen_c4310819_omim_300972_orphanet_692790 Immunodeficiency 47 MONDO:MONDO:0010504,MedGen:C4310819,OMIM:300972,Orphanet:692790 10 10 1.0000 condition_record_support_limited 20 0 2 Immunodeficiency_47 13 low_record_burden_interpretation_limited low_record_burden_gene ATP2B1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 10 10 1.0000 condition_record_support_limited 20 0 7 Neurodevelopmental_disorder 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A1 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 6 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATAD3A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 10 10 1.0000 condition_record_support_limited 20 10 2 not_provided|not_specified 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 10 10 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARV1 mondo_mondo_0014868_medgen_c4310762_omim_617020 Developmental and epileptic encephalopathy, 38 MONDO:MONDO:0014868,MedGen:C4310762,OMIM:617020 10 10 1.0000 condition_record_support_limited 20 0 3 Developmental_and_epileptic_encephalopathy,_38 16 low_record_burden_interpretation_limited low_record_burden_gene ARFGEF1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 10 10 1.0000 condition_record_support_limited 20 0 10 Intellectual_disability 79 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARFGEF1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 10 10 1.0000 condition_record_support_limited 20 0 10 Global_developmental_delay 79 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARFGEF1 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 10 10 1.0000 condition_record_support_limited 20 0 10 Delayed_speech_and_language_development 79 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AR ar_related_disorder AR-related disorder . 10 10 1.0000 condition_record_support_limited 20 0 4 AR-related_disorder 365 compact_adjacent_exon_block_opportunity local_compact_architecture APOE mondo_mondo_0018473_medgen_c0020479_omim_617347_orphanet_412 Familial type 3 hyperlipoproteinemia MONDO:MONDO:0018473,MedGen:C0020479,OMIM:617347,Orphanet:412 10 10 1.0000 condition_record_support_limited 20 0 3 Familial_type_3_hyperlipoproteinemia 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOA1 mondo_mondo_0971008_medgen_c4551500_omim_620657 Familial amyloid polyneuropathy, Iowa type MONDO:MONDO:0971008,MedGen:C4551500,OMIM:620657 10 10 1.0000 condition_record_support_limited 20 0 3 Familial_amyloid_polyneuropathy,_Iowa_type 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4S1 mondo_mondo_0013552_medgen_c3279743_omim_614067_orphanet_280763 Hereditary spastic paraplegia 52 MONDO:MONDO:0013552,MedGen:C3279743,OMIM:614067,Orphanet:280763 10 10 1.0000 condition_record_support_limited 20 0 7 Hereditary_spastic_paraplegia_52 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANKRD17 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 10 10 1.0000 condition_record_support_limited 20 10 5 See_cases|not_provided 46 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALPK3 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 10 10 1.0000 condition_record_support_limited 20 0 9 Cardiomyopathy 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AKT3 mondo_mondo_0014407_medgen_c4014738_omim_615937_orphanet_83473 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MONDO:MONDO:0014407,MedGen:C4014738,OMIM:615937,Orphanet:83473 10 10 1.0000 condition_record_support_limited 20 0 4 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_2 13 low_record_burden_interpretation_limited low_record_burden_gene AK1 mondo_mondo_0012967_medgen_c2675459_omim_612631_orphanet_86817 Hemolytic anemia due to adenylate kinase deficiency MONDO:MONDO:0012967,MedGen:C2675459,OMIM:612631,Orphanet:86817 10 10 1.0000 condition_record_support_limited 20 0 2 Hemolytic_anemia_due_to_adenylate_kinase_deficiency 11 low_record_burden_interpretation_limited low_record_burden_gene AIMP1 mondo_mondo_0009843_medgen_c1850053_omim_260600_orphanet_280270_orphanet_280293 Hypomyelinating leukodystrophy 3 MONDO:MONDO:0009843,MedGen:C1850053,OMIM:260600,Orphanet:280270,Orphanet:280293 10 10 1.0000 condition_record_support_limited 20 0 5 Hypomyelinating_leukodystrophy_3 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFG2B mondo_mondo_0859206_medgen_c5562024_omim_619616_orphanet_659975 Neurodevelopmental disorder with hearing loss and spasticity MONDO:MONDO:0859206,MedGen:C5562024,OMIM:619616,Orphanet:659975 10 10 1.0000 condition_record_support_limited 20 0 8 Neurodevelopmental_disorder_with_hearing_loss_and_spasticity 21 compact_adjacent_exon_block_opportunity local_compact_architecture ADSS1 mondo_mondo_0014877_medgen_c5567521_omim_617030_orphanet_482601 Myopathy, distal, 5 MONDO:MONDO:0014877,MedGen:C5567521,OMIM:617030,Orphanet:482601 10 10 1.0000 condition_record_support_limited 20 0 8 Myopathy,_distal,_5 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACVR1 mondo_mondo_0007606_medgen_c0016037_omim_135100_orphanet_337 Progressive myositis ossificans MONDO:MONDO:0007606,MedGen:C0016037,OMIM:135100,Orphanet:337 10 10 1.0000 condition_record_support_limited 20 0 4 Progressive_myositis_ossificans 10 low_record_burden_interpretation_limited low_record_burden_gene ACTL6B actl6b_related_recessive_epilepsy ACTL6B-related recessive epilepsy . 10 10 1.0000 condition_record_support_limited 20 0 8 ACTL6B-related_recessive_epilepsy 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 mondo_mondo_0018958_medgen_c0206157_omim_ps161800_orphanet_607 Nemaline myopathy MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607 10 10 1.0000 condition_record_support_limited 20 0 4 Nemaline_myopathy 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 mondo_mondo_0859517_medgen_c5830300_omim_620265 Congenital myopathy 2b, severe infantile, autosomal recessive MONDO:MONDO:0859517,MedGen:C5830300,OMIM:620265 10 10 1.0000 condition_record_support_limited 20 0 7 Congenital_myopathy_2b,_severe_infantile,_autosomal_recessive 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACAN mondo_mondo_0013014_medgen_c2748544_omim_612813_orphanet_171866 Spondyloepimetaphyseal dysplasia, aggrecan type MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866 10 10 1.0000 condition_record_support_limited 20 0 8 Spondyloepimetaphyseal_dysplasia,_aggrecan_type 203 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ABL1 condition_not_provided condition not provided MedGen:C3661900 10 10 1.0000 condition_record_support_limited 20 10 8 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA4 medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 10 10 1.0000 condition_record_support_limited 20 0 9 Autosomal_recessive_retinitis_pigmentosa 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA2 mondo_mondo_0032930_medgen_c5394135_omim_618808 Intellectual developmental disorder with poor growth and with or without seizures or ataxia MONDO:MONDO:0032930,MedGen:C5394135,OMIM:618808 10 10 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder_with_poor_growth_and_with_or_without_seizures_or_ataxia 14 low_record_burden_interpretation_limited low_record_burden_gene ABCA1 mondo_mondo_0011393_medgen_c5231558_omim_604091_orphanet_425 Hypoalphalipoproteinemia, primary, 1 MONDO:MONDO:0011393,MedGen:C5231558,OMIM:604091,Orphanet:425 10 10 1.0000 condition_record_support_limited 20 0 3 Hypoalphalipoproteinemia,_primary,_1 76 large_gene_or_donor_burden_stress_case donor_burden_stress AAGAB mondo_mondo_0007858_medgen_cn031225_omim_148600_orphanet_79501 Palmoplantar keratoderma, punctate type 1A MONDO:MONDO:0007858,MedGen:CN031225,OMIM:148600,Orphanet:79501 10 10 1.0000 condition_record_support_limited 20 0 5 Palmoplantar_keratoderma,_punctate_type_1A 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZMYND11 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZFYVE26 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 9 9 1.0000 condition_record_support_limited 20 0 8 Retinitis_pigmentosa 454 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZFYVE26 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 9 9 1.0000 condition_record_support_limited 20 0 8 Hereditary_spastic_paraplegia 454 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZFPM2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 2 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZDHHC24 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 9 9 1.0000 condition_record_support_limited 20 0 7 Retinitis_pigmentosa 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YWHAG mondo_mondo_0033365_medgen_c4540034_omim_617665 Developmental and epileptic encephalopathy, 56 MONDO:MONDO:0033365,MedGen:C4540034,OMIM:617665 9 9 1.0000 condition_record_support_limited 20 0 5 Developmental_and_epileptic_encephalopathy,_56 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XYLT2 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 2 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene XK mondo_mondo_0018945_medgen_c0398568_omim_300842_orphanet_59306 McLeod neuroacanthocytosis syndrome MONDO:MONDO:0018945,MedGen:C0398568,OMIM:300842,Orphanet:59306 9 9 1.0000 condition_record_support_limited 20 0 1 McLeod_neuroacanthocytosis_syndrome 14 low_record_burden_interpretation_limited low_record_burden_gene WFS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 9 Inborn_genetic_diseases 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR4 mondo_mondo_0032691_medgen_c5193043_omim_618347 Galloway-Mowat syndrome 6 MONDO:MONDO:0032691,MedGen:C5193043,OMIM:618347 9 9 1.0000 condition_record_support_limited 20 0 4 Galloway-Mowat_syndrome_6 18 low_record_burden_interpretation_limited low_record_burden_gene WDR37 mondo_mondo_0032850_medgen_c5231443_omim_618652_orphanet_684305 Neurooculocardiogenitourinary syndrome MONDO:MONDO:0032850,MedGen:C5231443,OMIM:618652,Orphanet:684305 9 9 1.0000 condition_record_support_limited 20 0 6 Neurooculocardiogenitourinary_syndrome 9 low_record_burden_interpretation_limited low_record_burden_gene WDFY3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 84 large_gene_or_donor_burden_stress_case donor_burden_stress VPS41 mondo_mondo_0030312_medgen_c5543595_omim_619389 Spinocerebellar ataxia, autosomal recessive 29 MONDO:MONDO:0030312,MedGen:C5543595,OMIM:619389 9 9 1.0000 condition_record_support_limited 20 0 2 Spinocerebellar_ataxia,_autosomal_recessive_29 9 low_record_burden_interpretation_limited low_record_burden_gene VAC14 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 2 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene USH1C mondo_mondo_0010168_medgen_c1568247_omim_276900_orphanet_231169_orphanet_886 Usher syndrome type 1 MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886 9 9 1.0000 condition_record_support_limited 20 0 9 Usher_syndrome_type_1 199 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A9 mondo_mondo_0009044_medgen_c5551003_orphanet_205 Crigler-Najjar syndrome MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205 9 9 1.0000 condition_record_support_limited 20 0 6 Crigler-Najjar_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A8 mondo_mondo_0009044_medgen_c5551003_orphanet_205 Crigler-Najjar syndrome MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205 9 9 1.0000 condition_record_support_limited 20 0 6 Crigler-Najjar_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A7 mondo_mondo_0009044_medgen_c5551003_orphanet_205 Crigler-Najjar syndrome MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205 9 9 1.0000 condition_record_support_limited 20 0 6 Crigler-Najjar_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A6 mondo_mondo_0009044_medgen_c5551003_orphanet_205 Crigler-Najjar syndrome MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205 9 9 1.0000 condition_record_support_limited 20 0 6 Crigler-Najjar_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A5 mondo_mondo_0009044_medgen_c5551003_orphanet_205 Crigler-Najjar syndrome MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205 9 9 1.0000 condition_record_support_limited 20 0 6 Crigler-Najjar_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A4 mondo_mondo_0009044_medgen_c5551003_orphanet_205 Crigler-Najjar syndrome MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205 9 9 1.0000 condition_record_support_limited 20 0 6 Crigler-Najjar_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A3 mondo_mondo_0009044_medgen_c5551003_orphanet_205 Crigler-Najjar syndrome MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205 9 9 1.0000 condition_record_support_limited 20 0 6 Crigler-Najjar_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A10 mondo_mondo_0009044_medgen_c5551003_orphanet_205 Crigler-Najjar syndrome MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205 9 9 1.0000 condition_record_support_limited 20 0 6 Crigler-Najjar_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A1 mondo_mondo_0009044_medgen_c5551003_orphanet_205 Crigler-Najjar syndrome MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205 9 9 1.0000 condition_record_support_limited 20 0 6 Crigler-Najjar_syndrome 80 compact_adjacent_exon_block_opportunity local_compact_architecture UBAP2L mondo_mondo_0957588_medgen_c5882686_omim_620494 Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies MONDO:MONDO:0957588,MedGen:C5882686,OMIM:620494 9 9 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_impaired_language,_behavioral_abnormalities,_and_dysmorphic_facies 14 low_record_burden_interpretation_limited low_record_burden_gene UBA2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 4 not_provided 28 compact_adjacent_exon_block_opportunity local_compact_architecture TXNL4A mondo_mondo_0012064_medgen_c1837822_omim_608572_orphanet_1200 Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome MONDO:MONDO:0012064,MedGen:C1837822,OMIM:608572,Orphanet:1200 9 9 1.0000 condition_record_support_limited 20 0 4 Choanal_atresia-hearing_loss-cardiac_defects-craniofacial_dysmorphism_syndrome 9 low_record_burden_interpretation_limited low_record_burden_gene TSPAN1 mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 Autosomal recessive limb-girdle muscular dystrophy MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 9 9 1.0000 condition_record_support_limited 20 0 9 Autosomal_recessive_limb-girdle_muscular_dystrophy 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSHB mondo_mondo_0010139_medgen_c0271789_omim_275100_orphanet_90674 Isolated thyroid-stimulating hormone deficiency MONDO:MONDO:0010139,MedGen:C0271789,OMIM:275100,Orphanet:90674 9 9 1.0000 condition_record_support_limited 20 0 4 Isolated_thyroid-stimulating_hormone_deficiency 12 low_record_burden_interpretation_limited low_record_burden_gene TSEN2 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 4 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPM1 human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Congenital stationary night blindness Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 9 9 1.0000 condition_record_support_limited 20 0 4 Congenital_stationary_night_blindness 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIM8 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 9 9 1.0000 condition_record_support_limited 20 0 8 Seizure 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TREX1 trex1_related_disorder TREX1-related disorder MedGen:CN239414 9 9 1.0000 condition_record_support_limited 20 0 8 TREX1-related_disorder 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRDN condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 7 not_provided 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 9 Inborn_genetic_diseases 221 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 9 9 1.0000 condition_record_support_limited 20 0 7 Cardiovascular_phenotype 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP63 mondo_mondo_0011334_medgen_c1863753_omim_603543_orphanet_69085 Limb-mammary syndrome MONDO:MONDO:0011334,MedGen:C1863753,OMIM:603543,Orphanet:69085 9 9 1.0000 condition_record_support_limited 20 0 8 Limb-mammary_syndrome 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP53RK mondo_mondo_0033008_medgen_c4540270_omim_617730 Galloway-Mowat syndrome 4 MONDO:MONDO:0033008,MedGen:C4540270,OMIM:617730 9 9 1.0000 condition_record_support_limited 20 0 1 Galloway-Mowat_syndrome_4 9 low_record_burden_interpretation_limited low_record_burden_gene TP53 mondo_mondo_0011098_medgen_c4722327_omim_601518_orphanet_1331 Prostate cancer, hereditary, 1 MONDO:MONDO:0011098,MedGen:C4722327,OMIM:601518,Orphanet:1331 9 9 1.0000 condition_record_support_limited 20 0 9 Prostate_cancer,_hereditary,_1 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TNNI3 mondo_mondo_0012746_medgen_c2678474_omim_611880_orphanet_154 Dilated cardiomyopathy 2A MONDO:MONDO:0012746,MedGen:C2678474,OMIM:611880,Orphanet:154 9 9 1.0000 condition_record_support_limited 20 0 7 Dilated_cardiomyopathy_2A 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMTC3 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 4 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene TMEM70 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 6 not_provided 38 compact_adjacent_exon_block_opportunity local_compact_architecture TMEM63A mondo_mondo_0032871_medgen_c5231463_omim_618688 Leukodystrophy, hypomyelinating, 19, transient infantile MONDO:MONDO:0032871,MedGen:C5231463,OMIM:618688 9 9 1.0000 condition_record_support_limited 20 0 3 Leukodystrophy,_hypomyelinating,_19,_transient_infantile 9 low_record_burden_interpretation_limited low_record_burden_gene TMEM126B mondo_mondo_0032633_medgen_c4748830_omim_618250 Mitochondrial complex I deficiency, nuclear type 29 MONDO:MONDO:0032633,MedGen:C4748830,OMIM:618250 9 9 1.0000 condition_record_support_limited 20 0 8 Mitochondrial_complex_I_deficiency,_nuclear_type_29 16 low_record_burden_interpretation_limited low_record_burden_gene TINF2 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 5 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TINF2 mondo_mondo_0015780_medgen_c0265965_omim_ps127550_orphanet_1775 Dyskeratosis congenita MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775 9 9 1.0000 condition_record_support_limited 20 0 6 Dyskeratosis_congenita 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFAP2B condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 3 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERT mondo_mondo_0800497_medgen_c5561926_omim_178500_orphanet_2032_orphanet_79126 Interstitial lung disease 2 MONDO:MONDO:0800497,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126 9 9 1.0000 condition_record_support_limited 20 0 8 Interstitial_lung_disease_2 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TECRL mondo_mondo_0013529_medgen_c3151463_omim_614021_orphanet_3286 Catecholaminergic polymorphic ventricular tachycardia 3 MONDO:MONDO:0013529,MedGen:C3151463,OMIM:614021,Orphanet:3286 9 9 1.0000 condition_record_support_limited 20 0 4 Catecholaminergic_polymorphic_ventricular_tachycardia_3 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TDRD7 mondo_mondo_0013484_medgen_c3151304_omim_613887 Cataract 36 MONDO:MONDO:0013484,MedGen:C3151304,OMIM:613887 9 9 1.0000 condition_record_support_limited 20 0 0 Cataract_36 9 low_record_burden_interpretation_limited low_record_burden_gene TBXAS1 mondo_mondo_0009274_medgen_c1856465_omim_231095_orphanet_1802 Ghosal hematodiaphyseal dysplasia MONDO:MONDO:0009274,MedGen:C1856465,OMIM:231095,Orphanet:1802 9 9 1.0000 condition_record_support_limited 20 0 3 Ghosal_hematodiaphyseal_dysplasia 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX22 medgen_c1844831 Cleft palate with ankyloglossia MedGen:C1844831 9 9 1.0000 condition_record_support_limited 20 0 1 Cleft_palate_with_ankyloglossia 15 low_record_burden_interpretation_limited low_record_burden_gene TBC1D8B mondo_mondo_0026726_medgen_c5193011_omim_301028 Nephrotic syndrome, type 20 MONDO:MONDO:0026726,MedGen:C5193011,OMIM:301028 9 9 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome,_type_20 9 low_record_burden_interpretation_limited low_record_burden_gene TBC1D2B mondo_mondo_0859148_medgen_c5543395_omim_619323 Neurodevelopmental disorder with seizures and gingival overgrowth MONDO:MONDO:0859148,MedGen:C5543395,OMIM:619323 9 9 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_seizures_and_gingival_overgrowth 12 low_record_burden_interpretation_limited low_record_burden_gene TBC1D24 mondo_mondo_0011506_medgen_c0917800_omim_605021_orphanet_352582 Familial infantile myoclonic epilepsy MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021,Orphanet:352582 9 9 1.0000 condition_record_support_limited 20 0 8 Familial_infantile_myoclonic_epilepsy 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAOK1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 72 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 syngap1_related_disorder SYNGAP1-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 5 SYNGAP1-related_disorder 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUOX human_phenotype_ontology_hp_0032350_medgen_c2931746 Sulfocysteinuria Human_Phenotype_Ontology:HP:0032350,MedGen:C2931746 9 9 1.0000 condition_record_support_limited 20 0 8 Sulfocysteinuria 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 9 9 1.0000 condition_record_support_limited 20 0 2 Developmental_and_epileptic_encephalopathy 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STX3 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 2 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene STK11 mondo_mondo_0010108_medgen_c1336708_omim_273300_orphanet_363504 Germ cell tumor of testis MONDO:MONDO:0010108,MedGen:C1336708,OMIM:273300,Orphanet:363504 9 9 1.0000 condition_record_support_limited 20 0 8 Germ_cell_tumor_of_testis 395 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control STAG2 mondo_mondo_0026763_medgen_c5393308_omim_301043 Holoprosencephaly 13, X-linked MONDO:MONDO:0026763,MedGen:C5393308,OMIM:301043 9 9 1.0000 condition_record_support_limited 20 0 4 Holoprosencephaly_13,_X-linked 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAG1 stag1_related_disorder STAG1-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 5 STAG1-related_disorder 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SRRM2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SRD5A3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 4 not_provided 23 compact_adjacent_exon_block_opportunity local_compact_architecture SPTBN2 mondo_mondo_0014159_medgen_c4706415_omim_615386_orphanet_352403 Autosomal recessive spinocerebellar ataxia 14 MONDO:MONDO:0014159,MedGen:C4706415,OMIM:615386,Orphanet:352403 9 9 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_spinocerebellar_ataxia_14 56 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTAN1 sptan1_related_disorder SPTAN1-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 5 SPTAN1-related_disorder 131 large_gene_or_donor_burden_stress_case donor_burden_stress SPR condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 5 not_provided 36 compact_adjacent_exon_block_opportunity local_compact_architecture SPINT2 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 3 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene SPECC1L mondo_mondo_0030639_medgen_c0796179_omim_ps145420_orphanet_1519 Teebi hypertelorism syndrome MONDO:MONDO:0030639,MedGen:C0796179,OMIM:PS145420,Orphanet:1519 9 9 1.0000 condition_record_support_limited 20 0 6 Teebi_hypertelorism_syndrome 14 low_record_burden_interpretation_limited low_record_burden_gene SPATA7 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 9 9 1.0000 condition_record_support_limited 20 0 8 Retinal_dystrophy 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPAG1 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 9 9 1.0000 condition_record_support_limited 20 0 4 Primary_ciliary_dyskinesia 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX9 medgen_c1842462 CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL MedGen:C1842462 9 9 1.0000 condition_record_support_limited 20 0 6 CAMPOMELIC_DYSPLASIA_WITH_AUTOSOMAL_SEX_REVERSAL 134 compact_adjacent_exon_block_opportunity local_compact_architecture SNAP29 mondo_mondo_0012290_medgen_c1836033_omim_609528_orphanet_66631 CEDNIK syndrome MONDO:MONDO:0012290,MedGen:C1836033,OMIM:609528,Orphanet:66631 9 9 1.0000 condition_record_support_limited 20 0 5 CEDNIK_syndrome 22 compact_adjacent_exon_block_opportunity local_compact_architecture SMS condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 3 not_provided 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMC1A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCD2 mondo_mondo_0044208_medgen_c4479548_omim_617475 Specific granule deficiency 2 MONDO:MONDO:0044208,MedGen:C4479548,OMIM:617475 9 9 1.0000 condition_record_support_limited 20 0 4 Specific_granule_deficiency_2 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 9 9 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene SLC3A1 slc3a1_related_disorder SLC3A1-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 7 SLC3A1-related_disorder 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC35A2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 4 not_provided 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC30A10 mondo_mondo_0013208_medgen_c2750442_omim_613280_orphanet_309854 Hypermanganesemia with dystonia, polycythemia, and cirrhosis MONDO:MONDO:0013208,MedGen:C2750442,OMIM:613280,Orphanet:309854 9 9 1.0000 condition_record_support_limited 20 0 1 Hypermanganesemia_with_dystonia,_polycythemia,_and_cirrhosis 10 low_record_burden_interpretation_limited low_record_burden_gene SLC2A1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 9 9 1.0000 condition_record_support_limited 20 0 8 Seizure 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A4 medgen_c0011053 Deafness MedGen:C0011053 9 9 1.0000 condition_record_support_limited 20 0 9 Deafness 631 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A3 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 1 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene SLC25A12 mondo_mondo_0013056_medgen_c2751855_omim_612949_orphanet_353217 Developmental and epileptic encephalopathy, 39 MONDO:MONDO:0013056,MedGen:C2751855,OMIM:612949,Orphanet:353217 9 9 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_39 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC19A1 mondo_mondo_0800167_medgen_c4551775_omim_267750 Knobloch syndrome 1 MONDO:MONDO:0800167,MedGen:C4551775,OMIM:267750 9 9 1.0000 condition_record_support_limited 20 0 5 Knobloch_syndrome_1 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A2 mondo_mondo_0033667_medgen_c5436771_omim_619083_orphanet_633024 Delpire-McNeill syndrome MONDO:MONDO:0033667,MedGen:C5436771,OMIM:619083,Orphanet:633024 9 9 1.0000 condition_record_support_limited 20 0 1 Delpire-McNeill_syndrome 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLA condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene SKIC2 mondo_mondo_0009105_medgen_c1857276_omim_ps222470_orphanet_84064 Trichohepatoenteric syndrome MONDO:MONDO:0009105,MedGen:C1857276,OMIM:PS222470,Orphanet:84064 9 9 1.0000 condition_record_support_limited 20 0 6 Trichohepatoenteric_syndrome 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SIL1 condition_not_provided condition not provided .|MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 5 See_cases|not_provided 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SIAH1 condition_not_provided condition not provided .|MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 2 See_cases|not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene SH3PXD2B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 1 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene SH3BP2 mondo_mondo_0007315_medgen_c0008029_omim_118400_orphanet_184 Fibrous dysplasia of jaw MONDO:MONDO:0007315,MedGen:C0008029,OMIM:118400,Orphanet:184 9 9 1.0000 condition_record_support_limited 20 0 4 Fibrous_dysplasia_of_jaw 10 low_record_burden_interpretation_limited low_record_burden_gene SGCG mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 Autosomal recessive limb-girdle muscular dystrophy MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 9 9 1.0000 condition_record_support_limited 20 0 9 Autosomal_recessive_limb-girdle_muscular_dystrophy 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SFTPB mondo_mondo_0009929_medgen_c1968602_omim_265120_orphanet_217563 Surfactant metabolism dysfunction, pulmonary, 1 MONDO:MONDO:0009929,MedGen:C1968602,OMIM:265120,Orphanet:217563 9 9 1.0000 condition_record_support_limited 20 0 4 Surfactant_metabolism_dysfunction,_pulmonary,_1 19 low_record_burden_interpretation_limited low_record_burden_gene SETD5 setd5_related_disorder SETD5-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 6 SETD5-related_disorder 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINH1 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 1 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene SERPING1 human_phenotype_ontology_hp_0100665_human_phenotype_ontology_hp_0100666_mondo_mondo_0010481_mesh_d000799_medgen_c0002994 Angioedema Human_Phenotype_Ontology:HP:0100665,Human_Phenotype_Ontology:HP:0100666,MONDO:MONDO:0010481,MeSH:D000799,MedGen:C0002994 9 9 1.0000 condition_record_support_limited 20 0 4 Angioedema 374 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 serpina1_related_disorder SERPINA1-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 8 SERPINA1-related_disorder 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHA sdha_related_disorder SDHA-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 9 SDHA-related_disorder 320 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SCYL1 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 4 not_provided 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCO2 mondo_mondo_0012154_medgen_c1837148_omim_608908 Myopia 6 MONDO:MONDO:0012154,MedGen:C1837148,OMIM:608908 9 9 1.0000 condition_record_support_limited 20 0 9 Myopia_6 110 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SCO1 mondo_mondo_0033636_medgen_c5436683_omim_619048 Mitochondrial complex IV deficiency, nuclear type 4 MONDO:MONDO:0033636,MedGen:C5436683,OMIM:619048 9 9 1.0000 condition_record_support_limited 20 0 4 Mitochondrial_complex_IV_deficiency,_nuclear_type_4 13 low_record_burden_interpretation_limited low_record_burden_gene SCN8A mondo_mondo_0100038_medgen_c5568766_orphanet_528084 Complex neurodevelopmental disorder MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 9 9 1.0000 condition_record_support_limited 20 0 9 Complex_neurodevelopmental_disorder 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A mondo_mondo_0017615_medgen_c5575231_omim_ps601764_orphanet_306 Benign familial infantile epilepsy MONDO:MONDO:0017615,MedGen:C5575231,OMIM:PS601764,Orphanet:306 9 9 1.0000 condition_record_support_limited 20 0 3 Benign_familial_infantile_epilepsy 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SATB2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 9 9 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SAMD9L condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 2 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene RYR2 medgen_c1832931 Arrhythmogenic right ventricular dysplasia 2 MedGen:C1832931 9 9 1.0000 condition_record_support_limited 20 0 8 Arrhythmogenic_right_ventricular_dysplasia_2 254 large_gene_or_donor_burden_stress_case donor_burden_stress RTN4IP1 mondo_mondo_0020737_medgen_c4225227_omim_616732 Optic atrophy 10 with or without ataxia, intellectual disability, and seizures MONDO:MONDO:0020737,MedGen:C4225227,OMIM:616732 9 9 1.0000 condition_record_support_limited 20 0 3 Optic_atrophy_10_with_or_without_ataxia,_intellectual_disability,_and_seizures 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RTEL1 rtel1_related_disorder RTEL1-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 7 RTEL1-related_disorder 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RTEL1 mondo_mondo_0800497_medgen_c5561926_omim_178500_orphanet_2032_orphanet_79126 Interstitial lung disease 2 MONDO:MONDO:0800497,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126 9 9 1.0000 condition_record_support_limited 20 0 7 Interstitial_lung_disease_2 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RSPH1 mondo_mondo_0014202_medgen_c3809634_omim_615481_orphanet_244 Primary ciliary dyskinesia 24 MONDO:MONDO:0014202,MedGen:C3809634,OMIM:615481,Orphanet:244 9 9 1.0000 condition_record_support_limited 20 0 7 Primary_ciliary_dyskinesia_24 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RRM2B mondo_mondo_0010000_medgen_c1849333_omim_268315 Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction MONDO:MONDO:0010000,MedGen:C1849333,OMIM:268315 9 9 1.0000 condition_record_support_limited 20 0 9 Rod-cone_dystrophy,_sensorineural_deafness,_and_Fanconi-type_renal_dysfunction 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RRAS2 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 6 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene RPSA mondo_mondo_0010066_medgen_c0685889_omim_271400_orphanet_101351 Familial isolated congenital asplenia MONDO:MONDO:0010066,MedGen:C0685889,OMIM:271400,Orphanet:101351 9 9 1.0000 condition_record_support_limited 20 0 2 Familial_isolated_congenital_asplenia 9 low_record_burden_interpretation_limited low_record_burden_gene RPL35A mondo_mondo_0012925_medgen_c2675859_omim_612528_orphanet_124 Diamond-Blackfan anemia 5 MONDO:MONDO:0012925,MedGen:C2675859,OMIM:612528,Orphanet:124 9 9 1.0000 condition_record_support_limited 20 0 1 Diamond-Blackfan_anemia_5 11 low_record_burden_interpretation_limited low_record_burden_gene RPL11 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 7 not_provided 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ROBO1 mondo_mondo_0957210_medgen_c5830377_omim_620305 Neurooculorenal syndrome MONDO:MONDO:0957210,MedGen:C5830377,OMIM:620305 9 9 1.0000 condition_record_support_limited 20 0 7 Neurooculorenal_syndrome 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ROBO1 mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 9 9 1.0000 condition_record_support_limited 20 0 5 Congenital_anomaly_of_kidney_and_urinary_tract 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNF216 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 1 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNF17 mondo_mondo_0012029_medgen_c1842109_omim_608393_orphanet_2512 Microcephaly 6, primary, autosomal recessive MONDO:MONDO:0012029,MedGen:C1842109,OMIM:608393,Orphanet:2512 9 9 1.0000 condition_record_support_limited 20 0 3 Microcephaly_6,_primary,_autosomal_recessive 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNASET2 mondo_mondo_0013058_medgen_c2751843_omim_612951_orphanet_85136 Cystic leukoencephalopathy without megalencephaly MONDO:MONDO:0013058,MedGen:C2751843,OMIM:612951,Orphanet:85136 9 9 1.0000 condition_record_support_limited 20 0 0 Cystic_leukoencephalopathy_without_megalencephaly 11 low_record_burden_interpretation_limited low_record_burden_gene RMND1 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 9 9 1.0000 condition_record_support_limited 20 0 5 Mitochondrial_disease 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIT1 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 Noonan syndrome 1 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 9 9 1.0000 condition_record_support_limited 20 0 8 Noonan_syndrome_1 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIT1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 9 9 1.0000 condition_record_support_limited 20 0 8 Cardiovascular_phenotype 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RHO mondo_mondo_0012498_medgen_c1864869_omim_610445_orphanet_215 Congenital stationary night blindness autosomal dominant 1 MONDO:MONDO:0012498,MedGen:C1864869,OMIM:610445,Orphanet:215 9 9 1.0000 condition_record_support_limited 20 0 7 Congenital_stationary_night_blindness_autosomal_dominant_1 198 compact_adjacent_exon_block_opportunity local_compact_architecture REN condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 5 not_provided 23 compact_adjacent_exon_block_opportunity local_compact_architecture RELA mondo_mondo_0032659_medgen_c4748997_omim_618287 Mucocutaneous ulceration, chronic MONDO:MONDO:0032659,MedGen:C4748997,OMIM:618287 9 9 1.0000 condition_record_support_limited 20 0 4 Mucocutaneous_ulceration,_chronic 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture REEP6 mondo_mondo_0015013_medgen_c4310626_omim_617304 Retinitis pigmentosa 77 MONDO:MONDO:0015013,MedGen:C4310626,OMIM:617304 9 9 1.0000 condition_record_support_limited 20 0 3 Retinitis_pigmentosa_77 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBM20 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 9 9 1.0000 condition_record_support_limited 20 0 8 Cardiovascular_phenotype 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBL2 mondo_mondo_0859217_medgen_c5562056_omim_619690 Brunet-Wagner neurodevelopmental syndrome MONDO:MONDO:0859217,MedGen:C5562056,OMIM:619690 9 9 1.0000 condition_record_support_limited 20 0 0 Brunet-Wagner_neurodevelopmental_syndrome 9 low_record_burden_interpretation_limited low_record_burden_gene RASGRP2 human_phenotype_ontology_hp_0030402_medgen_c0541767 Abnormal platelet aggregation Human_Phenotype_Ontology:HP:0030402,MedGen:C0541767 9 9 1.0000 condition_record_support_limited 20 0 2 Abnormal_platelet_aggregation 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RALA mondo_mondo_0859142_medgen_c5543338_omim_619311 Hiatt-Neu-Cooper neurodevelopmental syndrome MONDO:MONDO:0859142,MedGen:C5543338,OMIM:619311 9 9 1.0000 condition_record_support_limited 20 0 2 Hiatt-Neu-Cooper_neurodevelopmental_syndrome 13 low_record_burden_interpretation_limited low_record_burden_gene RAG1 mondo_mondo_0000572_medgen_cn375631 Recombinase activating gene 1 deficiency MONDO:MONDO:0000572,MedGen:CN375631 9 9 1.0000 condition_record_support_limited 20 0 9 Recombinase_activating_gene_1_deficiency 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAG1 rag1_related_disorder RAG1-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 8 RAG1-related_disorder 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAF1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 9 9 1.0000 condition_record_support_limited 20 0 9 Cardiovascular_phenotype 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD51C mondo_mondo_0700273_medgen_cn377762 RAD51C-related cancer predisposition MONDO:MONDO:0700273,MedGen:CN377762 9 9 1.0000 condition_record_support_limited 20 0 8 RAD51C-related_cancer_predisposition 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51C breast_and_or_ovarian_cancer Breast and/or ovarian cancer MedGen:CN221562 9 9 1.0000 condition_record_support_limited 20 0 8 Breast_and/or_ovarian_cancer 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAC3 mondo_mondo_0032820_medgen_c5231416_omim_618577_orphanet_659609 Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies MONDO:MONDO:0032820,MedGen:C5231416,OMIM:618577,Orphanet:659609 9 9 1.0000 condition_record_support_limited 20 0 4 Neurodevelopmental_disorder_with_structural_brain_anomalies_and_dysmorphic_facies 11 low_record_burden_interpretation_limited low_record_burden_gene RAB33A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 3 not_provided 47 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture QRICH1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYROXD1 mondo_mondo_0014993_medgen_c4310645_omim_617258 Myofibrillar myopathy 8 MONDO:MONDO:0014993,MedGen:C4310645,OMIM:617258 9 9 1.0000 condition_record_support_limited 20 0 5 Myofibrillar_myopathy_8 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUS3 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 4 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PURA human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 9 9 1.0000 condition_record_support_limited 20 0 9 Seizure 218 single_exon_hotspot_opportunity local_compact_architecture PTH1R mondo_mondo_0008970_medgen_c1859148_omim_215045_orphanet_50945 Chondrodysplasia Blomstrand type MONDO:MONDO:0008970,MedGen:C1859148,OMIM:215045,Orphanet:50945 9 9 1.0000 condition_record_support_limited 20 0 7 Chondrodysplasia_Blomstrand_type 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTEN human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 9 9 1.0000 condition_record_support_limited 20 0 8 Gastric_cancer 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTBP1 ptbp1_related_neurodevelopmental_disorder_with_skeletal_dysplasia PTBP1-related neurodevelopmental disorder with skeletal dysplasia . 9 9 1.0000 condition_record_support_limited 20 0 7 PTBP1-related_neurodevelopmental_disorder_with_skeletal_dysplasia 9 low_record_burden_interpretation_limited low_record_burden_gene PRRT2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 7 Inborn_genetic_diseases 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPS1 mondo_mondo_0010533_medgen_c0796028_omim_301835_orphanet_1187 Arts syndrome MONDO:MONDO:0010533,MedGen:C0796028,OMIM:301835,Orphanet:1187 9 9 1.0000 condition_record_support_limited 20 0 6 Arts_syndrome 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPH2 mondo_mondo_0007931_medgen_c2745945_omim_153700_orphanet_1243 Vitelliform macular dystrophy 2 MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700,Orphanet:1243 9 9 1.0000 condition_record_support_limited 20 0 9 Vitelliform_macular_dystrophy_2 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRKD1 mondo_mondo_0044303_medgen_c4479250_omim_617364 Congenital heart defects and ectodermal dysplasia MONDO:MONDO:0044303,MedGen:C4479250,OMIM:617364 9 9 1.0000 condition_record_support_limited 20 0 0 Congenital_heart_defects_and_ectodermal_dysplasia 10 low_record_burden_interpretation_limited low_record_burden_gene PRKCSH human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Autosomal dominant polycystic liver disease Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 9 9 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_polycystic_liver_disease 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAR1A mondo_mondo_0007044_medgen_c3276228_omim_101800_orphanet_280651 Acrodysostosis 1 with or without hormone resistance MONDO:MONDO:0007044,MedGen:C3276228,OMIM:101800,Orphanet:280651 9 9 1.0000 condition_record_support_limited 20 0 6 Acrodysostosis_1_with_or_without_hormone_resistance 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAG2 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 9 9 1.0000 condition_record_support_limited 20 0 7 Hypertrophic_cardiomyopathy 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP1CB condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 6 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene PPP1CB mondo_mondo_0054588_medgen_c4479577_omim_617506 Noonan syndrome-like disorder with loose anagen hair 2 MONDO:MONDO:0054588,MedGen:C4479577,OMIM:617506 9 9 1.0000 condition_record_support_limited 20 0 7 Noonan_syndrome-like_disorder_with_loose_anagen_hair_2 14 low_record_burden_interpretation_limited low_record_burden_gene PPOX mondo_mondo_0957577_medgen_c5882681_omim_620483 Variegate porphyria, childhood-onset MONDO:MONDO:0957577,MedGen:C5882681,OMIM:620483 9 9 1.0000 condition_record_support_limited 20 0 3 Variegate_porphyria,_childhood-onset 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPM1D mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPIL1 mesh_c580383_medgen_c0266468 Congenital pontocerebellar hypoplasia MeSH:C580383,MedGen:C0266468 9 9 1.0000 condition_record_support_limited 20 0 4 Congenital_pontocerebellar_hypoplasia 10 low_record_burden_interpretation_limited low_record_burden_gene PPIB mondo_mondo_0009805_medgen_c1850169_omim_259440 Osteogenesis imperfecta type 9 MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440 9 9 1.0000 condition_record_support_limited 20 0 5 Osteogenesis_imperfecta_type_9 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPFIBP1 human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 9 9 1.0000 condition_record_support_limited 20 0 9 Severe_intellectual_disability 12 low_record_burden_interpretation_limited low_record_burden_gene PPFIBP1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 9 9 1.0000 condition_record_support_limited 20 0 9 Seizure 12 low_record_burden_interpretation_limited low_record_burden_gene PPFIBP1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 9 9 1.0000 condition_record_support_limited 20 0 9 Microcephaly 12 low_record_burden_interpretation_limited low_record_burden_gene PPFIBP1 human_phenotype_ontology_hp_0002502_human_phenotype_ontology_hp_0002514_human_phenotype_ontology_hp_0005806_human_phenotype_ontology_hp_0006848_medgen_c0270685 Cerebral calcification Human_Phenotype_Ontology:HP:0002502,Human_Phenotype_Ontology:HP:0002514,Human_Phenotype_Ontology:HP:0005806,Human_Phenotype_Ontology:HP:0006848,MedGen:C0270685 9 9 1.0000 condition_record_support_limited 20 0 9 Cerebral_calcification 12 low_record_burden_interpretation_limited low_record_burden_gene PPFIA3 ppfia3_related_disorder PPFIA3-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 3 PPFIA3-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene POU3F3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 52 single_exon_hotspot_opportunity local_compact_architecture POMGNT1 mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 Autosomal recessive limb-girdle muscular dystrophy MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 9 9 1.0000 condition_record_support_limited 20 0 9 Autosomal_recessive_limb-girdle_muscular_dystrophy 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3H condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 1 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLGARF mondo_mondo_0011835_medgen_c1843851_omim_607459_orphanet_70595 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:70595 9 9 1.0000 condition_record_support_limited 20 0 8 Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis 61 compact_adjacent_exon_block_opportunity local_compact_architecture PNP condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 7 not_provided 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMFBP1 mondo_mondo_0020852_medgen_c4748234_omim_618112 Spermatogenic failure 31 MONDO:MONDO:0020852,MedGen:C4748234,OMIM:618112 9 9 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_31 10 low_record_burden_interpretation_limited low_record_burden_gene PLS3 medgen_c3806712_omim_300910_orphanet_391330 Bone mineral density quantitative trait locus 18 MedGen:C3806712,OMIM:300910,Orphanet:391330 9 9 1.0000 condition_record_support_limited 20 0 2 Bone_mineral_density_quantitative_trait_locus_18 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD1 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 9 9 1.0000 condition_record_support_limited 20 0 8 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLEKHG5 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 6 not_provided 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLCE1 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 9 9 1.0000 condition_record_support_limited 20 0 1 Nephrotic_syndrome 63 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PLCB4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 3 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLA2G6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 8 Inborn_genetic_diseases 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKLR pklr_related_disorder PKLR-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 8 PKLR-related_disorder 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3R1 mondo_mondo_0024291_medgen_c0158570 Vascular malformation MONDO:MONDO:0024291,MedGen:C0158570 9 9 1.0000 condition_record_support_limited 20 0 1 Vascular_malformation 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3R1 vascular_malformations_and_overgrowth Vascular Malformations and Overgrowth . 9 9 1.0000 condition_record_support_limited 20 0 4 Vascular_Malformations_and_Overgrowth 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0013125_medgen_c2751313_omim_613089_orphanet_168984 CLAPO syndrome MONDO:MONDO:0013125,MedGen:C2751313,OMIM:613089,Orphanet:168984 9 9 1.0000 condition_record_support_limited 20 0 8 CLAPO_syndrome 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGQ mondo_mondo_0032808_medgen_c5231405_omim_618548 Developmental and epileptic encephalopathy, 77 MONDO:MONDO:0032808,MedGen:C5231405,OMIM:618548 9 9 1.0000 condition_record_support_limited 20 0 6 Developmental_and_epileptic_encephalopathy,_77 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGN mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 8 Inborn_genetic_diseases 179 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGL mondo_mondo_0010221_medgen_c1848392_omim_280000_orphanet_3474 CHIME syndrome MONDO:MONDO:0010221,MedGen:C1848392,OMIM:280000,Orphanet:3474 9 9 1.0000 condition_record_support_limited 20 0 3 CHIME_syndrome 20 compact_adjacent_exon_block_opportunity local_compact_architecture PIGK mondo_mondo_0030037_medgen_c5394372_omim_618879 Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures MONDO:MONDO:0030037,MedGen:C5394372,OMIM:618879 9 9 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_hypotonia_and_cerebellar_atrophy,_with_or_without_seizures 10 low_record_burden_interpretation_limited low_record_burden_gene PIEZO2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 134 large_gene_or_donor_burden_stress_case donor_burden_stress PHEX phex_related_disorder PHEX-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 5 PHEX-related_disorder 842 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PGM1 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 6 not_provided 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PFKM condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 6 not_provided 134 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX11B mondo_mondo_0013967_medgen_c3554055_omim_614920_orphanet_44 Peroxisome biogenesis disorder 14B MONDO:MONDO:0013967,MedGen:C3554055,OMIM:614920,Orphanet:44 9 9 1.0000 condition_record_support_limited 20 0 1 Peroxisome_biogenesis_disorder_14B 14 low_record_burden_interpretation_limited low_record_burden_gene PET100 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 4 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene PDGFB mondo_mondo_0014204_medgen_c3809645_omim_615483_orphanet_1980 Basal ganglia calcification, idiopathic, 5 MONDO:MONDO:0014204,MedGen:C3809645,OMIM:615483,Orphanet:1980 9 9 1.0000 condition_record_support_limited 20 0 2 Basal_ganglia_calcification,_idiopathic,_5 25 compact_adjacent_exon_block_opportunity local_compact_architecture PCYT1A mondo_mondo_0012160_medgen_c1837073_omim_608940_orphanet_85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome MONDO:MONDO:0012160,MedGen:C1837073,OMIM:608940,Orphanet:85167 9 9 1.0000 condition_record_support_limited 20 0 3 Spondylometaphyseal_dysplasia-cone-rod_dystrophy_syndrome 14 low_record_burden_interpretation_limited low_record_burden_gene PAPSS2 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 5 not_provided 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture P3H1 mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 Osteogenesis imperfecta MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 9 9 1.0000 condition_record_support_limited 20 0 6 Osteogenesis_imperfecta 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OXTR condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 7 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene OTULIN mondo_mondo_0014912_medgen_c4310614_omim_617099_orphanet_500062 Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive MONDO:MONDO:0014912,MedGen:C4310614,OMIM:617099,Orphanet:500062 9 9 1.0000 condition_record_support_limited 20 0 2 Autoinflammation,_panniculitis,_and_dermatosis_syndrome,_autosomal_recessive 17 low_record_burden_interpretation_limited low_record_burden_gene OTOF otof_related_disorder OTOF-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 9 OTOF-related_disorder 355 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NRCAM mondo_mondo_0859236_medgen_c5676965_omim_619833 Neurodevelopmental disorder with neuromuscular and skeletal abnormalities MONDO:MONDO:0859236,MedGen:C5676965,OMIM:619833 9 9 1.0000 condition_record_support_limited 20 0 5 Neurodevelopmental_disorder_with_neuromuscular_and_skeletal_abnormalities 14 low_record_burden_interpretation_limited low_record_burden_gene NRCAM nrcam_related_disorder NRCAM-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 5 NRCAM-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene NR5A1 mondo_mondo_0013065_medgen_c2751825_omim_612964 Premature ovarian failure 7 MONDO:MONDO:0013065,MedGen:C2751825,OMIM:612964 9 9 1.0000 condition_record_support_limited 20 0 7 Premature_ovarian_failure_7 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR5A1 nr5a1_related_disorder NR5A1-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 5 NR5A1-related_disorder 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR4A2 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 1 not_provided 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR2E3 nr2e3_related_disorder NR2E3-related disorder MedGen:CN239387 9 9 1.0000 condition_record_support_limited 20 0 8 NR2E3-related_disorder 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR1H4 mondo_mondo_0014884_medgen_c4310747_omim_617049_orphanet_480476 Cholestasis, progressive familial intrahepatic, 5 MONDO:MONDO:0014884,MedGen:C4310747,OMIM:617049,Orphanet:480476 9 9 1.0000 condition_record_support_limited 20 0 3 Cholestasis,_progressive_familial_intrahepatic,_5 14 low_record_burden_interpretation_limited low_record_burden_gene NPHS2 nphs2_related_disorder NPHS2-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 8 NPHS2-related_disorder 158 compact_adjacent_exon_block_opportunity local_compact_architecture NPHS2 mondo_mondo_0018170_medgen_c3496337_orphanet_357502 Idiopathic nephrotic syndrome MONDO:MONDO:0018170,MedGen:C3496337,Orphanet:357502 9 9 1.0000 condition_record_support_limited 20 0 8 Idiopathic_nephrotic_syndrome 158 compact_adjacent_exon_block_opportunity local_compact_architecture NPHS1 nphs1_related_disorder NPHS1-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 7 NPHS1-related_disorder 468 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP3 mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 9 9 1.0000 condition_record_support_limited 20 0 6 Joubert_syndrome_and_related_disorders 161 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NOG mondo_mondo_0008519_medgen_c0342282_omim_186500_orphanet_3237 Symphalangism-brachydactyly syndrome MONDO:MONDO:0008519,MedGen:C0342282,OMIM:186500,Orphanet:3237 9 9 1.0000 condition_record_support_limited 20 0 1 Symphalangism-brachydactyly_syndrome 50 single_exon_hotspot_opportunity local_compact_architecture NOD2 mesh_d003424_medgen_c0678202 Regional enteritis MeSH:D003424,MedGen:C0678202 9 9 1.0000 condition_record_support_limited 20 0 9 Regional_enteritis 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NMNAT1 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 8 not_provided 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NHS mondo_mondo_0010544_medgen_c4049004_omim_302200_orphanet_91492 Cataract 40 MONDO:MONDO:0010544,MedGen:C4049004,OMIM:302200,Orphanet:91492 9 9 1.0000 condition_record_support_limited 20 0 5 Cataract_40 76 compact_adjacent_exon_block_opportunity local_compact_architecture NF1 human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Rhabdomyosarcoma Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 9 9 1.0000 condition_record_support_limited 20 0 9 Rhabdomyosarcoma 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Abnormality of the skin Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 9 9 1.0000 condition_record_support_limited 20 0 8 Abnormality_of_the_skin 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NECTIN4 mondo_mondo_0024565_medgen_c3150807_omim_613573_orphanet_247820 Ectodermal dysplasia-syndactyly syndrome 1 MONDO:MONDO:0024565,MedGen:C3150807,OMIM:613573,Orphanet:247820 9 9 1.0000 condition_record_support_limited 20 0 0 Ectodermal_dysplasia-syndactyly_syndrome_1 12 low_record_burden_interpretation_limited low_record_burden_gene NCAPH2 mondo_mondo_0012154_medgen_c1837148_omim_608908 Myopia 6 MONDO:MONDO:0012154,MedGen:C1837148,OMIM:608908 9 9 1.0000 condition_record_support_limited 20 0 9 Myopia_6 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAGA mondo_mondo_0012222_medgen_c1836522_omim_609242_orphanet_3137_orphanet_79280 Alpha-N-acetylgalactosaminidase deficiency type 2 MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242,Orphanet:3137,Orphanet:79280 9 9 1.0000 condition_record_support_limited 20 0 8 Alpha-N-acetylgalactosaminidase_deficiency_type_2 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYOT mondo_mondo_0012215_medgen_c3714934_omim_609200_orphanet_266_orphanet_268129 Myofibrillar myopathy 3 MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200,Orphanet:266,Orphanet:268129 9 9 1.0000 condition_record_support_limited 20 0 5 Myofibrillar_myopathy_3 9 low_record_burden_interpretation_limited low_record_burden_gene MYOC condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 8 not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYH3 mondo_mondo_0010094_medgen_c1848934_omim_272460_orphanet_3275 Spondylocarpotarsal synostosis syndrome MONDO:MONDO:0010094,MedGen:C1848934,OMIM:272460,Orphanet:3275 9 9 1.0000 condition_record_support_limited 20 0 6 Spondylocarpotarsal_synostosis_syndrome 124 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH14 mondo_mondo_0010915_medgen_c1833503_omim_600652_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 4A MONDO:MONDO:0010915,MedGen:C1833503,OMIM:600652,Orphanet:90635 9 9 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_nonsyndromic_hearing_loss_4A 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MUSK condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 8 not_provided 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTRFR condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 6 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTR mondo_mondo_0011120_medgen_c1866558_omim_601634_orphanet_823 Neural tube defects, folate-sensitive MONDO:MONDO:0011120,MedGen:C1866558,OMIM:601634,Orphanet:823 9 9 1.0000 condition_record_support_limited 20 0 9 Neural_tube_defects,_folate-sensitive 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSX1 mondo_mondo_0007129_medgen_c3489529_omim_106600_orphanet_99798 Tooth agenesis, selective, 1 MONDO:MONDO:0007129,MedGen:C3489529,OMIM:106600,Orphanet:99798 9 9 1.0000 condition_record_support_limited 20 0 1 Tooth_agenesis,_selective,_1 29 compact_adjacent_exon_block_opportunity local_compact_architecture MSH6 mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 9 9 1.0000 condition_record_support_limited 20 0 6 Familial_cancer_of_breast 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH6 breast_and_or_ovarian_cancer Breast and/or ovarian cancer MedGen:CN221562 9 9 1.0000 condition_record_support_limited 20 0 9 Breast_and/or_ovarian_cancer 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH2 human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Endometrial carcinoma Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 9 9 1.0000 condition_record_support_limited 20 0 9 Endometrial_carcinoma 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MPZ mondo_mondo_0008392_medgen_c0205713_omim_180800_orphanet_3115 Roussy-Lévy syndrome MONDO:MONDO:0008392,MedGen:C0205713,OMIM:180800,Orphanet:3115 9 9 1.0000 condition_record_support_limited 20 0 8 Roussy-Lévy_syndrome 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPZ mpz_related_disorder MPZ-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 9 MPZ-related_disorder 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPV17 mondo_mondo_0018158_medgen_c0342782_omim_ps603041_orphanet_35698 Mitochondrial DNA depletion syndrome MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041,Orphanet:35698 9 9 1.0000 condition_record_support_limited 20 0 8 Mitochondrial_DNA_depletion_syndrome 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPDU1 mondo_mondo_0012211_medgen_c1836669_omim_609180_orphanet_79323 MPDU1-congenital disorder of glycosylation MONDO:MONDO:0012211,MedGen:C1836669,OMIM:609180,Orphanet:79323 9 9 1.0000 condition_record_support_limited 20 0 0 MPDU1-congenital_disorder_of_glycosylation 14 low_record_burden_interpretation_limited low_record_burden_gene MME mondo_mondo_0014867_medgen_c4310763_omim_617018_orphanet_497764 Spinocerebellar ataxia 43 MONDO:MONDO:0014867,MedGen:C4310763,OMIM:617018,Orphanet:497764 9 9 1.0000 condition_record_support_limited 20 0 7 Spinocerebellar_ataxia_43 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMADHC condition_not_provided condition not provided .|MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 8 See_cases|not_provided 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MLH1 human_phenotype_ontology_hp_0003003_human_phenotype_ontology_hp_0006718_mondo_mondo_0021063_medgen_c0007102 Colon cancer Human_Phenotype_Ontology:HP:0003003,Human_Phenotype_Ontology:HP:0006718,MONDO:MONDO:0021063,MedGen:C0007102 9 9 1.0000 condition_record_support_limited 20 0 7 Colon_cancer 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MGAT2 mondo_mondo_0008908_medgen_c2931008_omim_212066_orphanet_79329 MGAT2-congenital disorder of glycosylation MONDO:MONDO:0008908,MedGen:C2931008,OMIM:212066,Orphanet:79329 9 9 1.0000 condition_record_support_limited 20 0 2 MGAT2-congenital_disorder_of_glycosylation 12 low_record_burden_interpretation_limited low_record_burden_gene METTL5 mondo_mondo_0032860_medgen_c5231452_omim_618665 Intellectual developmental disorder, autosomal recessive 72 MONDO:MONDO:0032860,MedGen:C5231452,OMIM:618665 9 9 1.0000 condition_record_support_limited 20 0 2 Intellectual_developmental_disorder,_autosomal_recessive_72 9 low_record_burden_interpretation_limited low_record_burden_gene MED13 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12L condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 9 9 1.0000 condition_record_support_limited 20 9 2 not_provided|not_specified 35 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 9 9 1.0000 condition_record_support_limited 20 0 7 Neurodevelopmental_delay 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 mondo_mondo_0007113_medgen_c0162635_omim_105830_orphanet_72 Angelman syndrome MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:72 9 9 1.0000 condition_record_support_limited 20 0 9 Angelman_syndrome 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCM9 mondo_mondo_0014520_medgen_c4015409_omim_616185_orphanet_444048 46,XX ovarian dysgenesis-short stature syndrome MONDO:MONDO:0014520,MedGen:C4015409,OMIM:616185,Orphanet:444048 9 9 1.0000 condition_record_support_limited 20 0 2 46,XX_ovarian_dysgenesis-short_stature_syndrome 10 low_record_burden_interpretation_limited low_record_burden_gene MCM8 mondo_mondo_0044776_medgen_c4225402_omim_612885 Premature ovarian failure 10 MONDO:MONDO:0044776,MedGen:C4225402,OMIM:612885 9 9 1.0000 condition_record_support_limited 20 0 3 Premature_ovarian_failure_10 14 low_record_burden_interpretation_limited low_record_burden_gene MCFD2 mondo_mondo_0013331_medgen_c3150889_omim_613625_orphanet_35909 Factor 5 and Factor VIII, combined deficiency of, 2 MONDO:MONDO:0013331,MedGen:C3150889,OMIM:613625,Orphanet:35909 9 9 1.0000 condition_record_support_limited 20 0 2 Factor_5_and_Factor_VIII,_combined_deficiency_of,_2 16 low_record_burden_interpretation_limited low_record_burden_gene MCEE mondo_mondo_0009615_medgen_c1855100_omim_251120_orphanet_308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:MONDO:0009615,MedGen:C1855100,OMIM:251120,Orphanet:308425 9 9 1.0000 condition_record_support_limited 20 0 2 Methylmalonic_acidemia_due_to_methylmalonyl-CoA_epimerase_deficiency 9 low_record_burden_interpretation_limited low_record_burden_gene MC2R condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 3 not_provided 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MC2R medgen_c1955741 Glucocorticoid Deficiency MedGen:C1955741 9 9 1.0000 condition_record_support_limited 20 0 6 Glucocorticoid_Deficiency 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MBTPS1 mondo_mondo_0032721_medgen_c5193071_omim_618392 Spondyloepiphyseal dysplasia, kondo-fu type MONDO:MONDO:0032721,MedGen:C5193071,OMIM:618392 9 9 1.0000 condition_record_support_limited 20 0 1 Spondyloepiphyseal_dysplasia,_kondo-fu_type 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP3K7 mondo_mondo_0008005_medgen_c2931461_omim_157800_orphanet_3238 Cardiospondylocarpofacial syndrome MONDO:MONDO:0008005,MedGen:C2931461,OMIM:157800,Orphanet:3238 9 9 1.0000 condition_record_support_limited 20 0 5 Cardiospondylocarpofacial_syndrome 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAN2C1 mondo_mondo_0030770_medgen_c5676931_omim_619775 Congenital disorder of deglycosylation 2 MONDO:MONDO:0030770,MedGen:C5676931,OMIM:619775 9 9 1.0000 condition_record_support_limited 20 0 0 Congenital_disorder_of_deglycosylation_2 9 low_record_burden_interpretation_limited low_record_burden_gene MADD condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 2 not_provided 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LYRM7 mondo_mondo_0014364_medgen_c4014440_omim_615838 Mitochondrial complex III deficiency nuclear type 8 MONDO:MONDO:0014364,MedGen:C4014440,OMIM:615838 9 9 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_III_deficiency_nuclear_type_8 14 low_record_burden_interpretation_limited low_record_burden_gene LRRC56 mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 9 9 1.0000 condition_record_support_limited 20 0 8 RASopathy 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC37A2 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 8 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LOXHD1 loxhd1_related_disorder LOXHD1-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 8 LOXHD1-related_disorder 443 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LONP2 condition_not_provided condition not provided .|MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 2 See_cases|not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene LIPH mondo_mondo_0011452_medgen_c1836672_omim_604379_orphanet_55654 Hypotrichosis 7 MONDO:MONDO:0011452,MedGen:C1836672,OMIM:604379,Orphanet:55654 9 9 1.0000 condition_record_support_limited 20 0 6 Hypotrichosis_7 12 low_record_burden_interpretation_limited low_record_burden_gene LIAS condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 5 not_provided 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LGI3 peripheral_nerve_hyperexcitability_syndrome Peripheral nerve hyperexcitability syndrome . 9 9 1.0000 condition_record_support_limited 20 0 5 Peripheral_nerve_hyperexcitability_syndrome 11 low_record_burden_interpretation_limited low_record_burden_gene LBR mondo_mondo_0008214_medgen_c0030779_omim_169400 Pelger-Huët anomaly MONDO:MONDO:0008214,MedGen:C0030779,OMIM:169400 9 9 1.0000 condition_record_support_limited 20 0 5 Pelger-Huët_anomaly 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture L2HGDH condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 7 not_provided 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KYNU congenital_nad_deficiency_disorder Congenital NAD deficiency disorder . 9 9 1.0000 condition_record_support_limited 20 0 9 Congenital_NAD_deficiency_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRT14 mondo_mondo_0007551_medgen_c0080333_omim_131800_orphanet_79400 Epidermolysis bullosa simplex 1C, localized MONDO:MONDO:0007551,MedGen:C0080333,OMIM:131800,Orphanet:79400 9 9 1.0000 condition_record_support_limited 20 0 8 Epidermolysis_bullosa_simplex_1C,_localized 76 compact_adjacent_exon_block_opportunity local_compact_architecture KRT12 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 8 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene KRT1 human_phenotype_ontology_hp_0007475_mondo_mondo_0007239_medgen_c0079153_omim_ps113800_orphanet_312 Epidermolytic ichthyosis Human_Phenotype_Ontology:HP:0007475,MONDO:MONDO:0007239,MedGen:C0079153,OMIM:PS113800,Orphanet:312 9 9 1.0000 condition_record_support_limited 20 0 7 Epidermolytic_ichthyosis 48 compact_adjacent_exon_block_opportunity local_compact_architecture KRAS mondo_mondo_0024291_medgen_c0158570 Vascular malformation MONDO:MONDO:0024291,MedGen:C0158570 9 9 1.0000 condition_record_support_limited 20 0 3 Vascular_malformation 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0013767_medgen_c2674723_omim_614470_orphanet_268114 Autoimmune lymphoproliferative syndrome type 4 MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114 9 9 1.0000 condition_record_support_limited 20 0 9 Autoimmune_lymphoproliferative_syndrome_type_4 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KMT2C mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 174 large_gene_or_donor_burden_stress_case donor_burden_stress KLKB1 mondo_mondo_0012901_medgen_cn305372_omim_612423_orphanet_749 Inherited prekallikrein deficiency MONDO:MONDO:0012901,MedGen:CN305372,OMIM:612423,Orphanet:749 9 9 1.0000 condition_record_support_limited 20 0 2 Inherited_prekallikrein_deficiency 13 low_record_burden_interpretation_limited low_record_burden_gene KLHL7 mondo_mondo_0013052_medgen_c2751986_omim_612943_orphanet_791 Retinitis pigmentosa 42 MONDO:MONDO:0013052,MedGen:C2751986,OMIM:612943,Orphanet:791 9 9 1.0000 condition_record_support_limited 20 0 6 Retinitis_pigmentosa_42 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF7 kif7_related_disorder KIF7-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 6 KIF7-related_disorder 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF26A mondo_mondo_0859332_medgen_c5774270_omim_620156 Cortical dysplasia, complex, with other brain malformations 11 MONDO:MONDO:0859332,MedGen:C5774270,OMIM:620156 9 9 1.0000 condition_record_support_limited 20 0 0 Cortical_dysplasia,_complex,_with_other_brain_malformations_11 9 low_record_burden_interpretation_limited low_record_burden_gene KIF12 mondo_mondo_0030505_medgen_c5562045_omim_619662 Cholestasis, progressive familial intrahepatic, 8 MONDO:MONDO:0030505,MedGen:C5562045,OMIM:619662 9 9 1.0000 condition_record_support_limited 20 0 1 Cholestasis,_progressive_familial_intrahepatic,_8 13 low_record_burden_interpretation_limited low_record_burden_gene KIAA0586 mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 9 9 1.0000 condition_record_support_limited 20 0 6 Joubert_syndrome_and_related_disorders 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM6B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM6A mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 9 9 1.0000 condition_record_support_limited 20 0 2 Malignant_tumor_of_urinary_bladder 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM5B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM4B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 3 not_provided 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 9 9 1.0000 condition_record_support_limited 20 0 6 Epileptic_encephalopathy 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 9 9 1.0000 condition_record_support_limited 20 0 3 Developmental_and_epileptic_encephalopathy 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNN2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 9 9 1.0000 condition_record_support_limited 20 0 9 Global_developmental_delay 19 low_record_burden_interpretation_limited low_record_burden_gene KCNJ13 mondo_mondo_0013613_medgen_c3280062_omim_614186_orphanet_65 Leber congenital amaurosis 16 MONDO:MONDO:0013613,MedGen:C3280062,OMIM:614186,Orphanet:65 9 9 1.0000 condition_record_support_limited 20 0 3 Leber_congenital_amaurosis_16 11 low_record_burden_interpretation_limited low_record_burden_gene KCNJ1 mondo_mondo_0015231_medgen_c0004775_omim_ps601678_orphanet_112 Bartter syndrome MONDO:MONDO:0015231,MedGen:C0004775,OMIM:PS601678,Orphanet:112 9 9 1.0000 condition_record_support_limited 20 0 7 Bartter_syndrome 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNH1 mondo_mondo_0012735_medgen_c2678486_omim_611816_orphanet_420561 Temple-Baraitser syndrome MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816,Orphanet:420561 9 9 1.0000 condition_record_support_limited 20 0 6 Temple-Baraitser_syndrome 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KATNB1 mondo_mondo_0014534_medgen_c4015525_omim_616212_orphanet_1083 Lissencephaly 6 with microcephaly MONDO:MONDO:0014534,MedGen:C4015525,OMIM:616212,Orphanet:1083 9 9 1.0000 condition_record_support_limited 20 0 1 Lissencephaly_6_with_microcephaly 13 low_record_burden_interpretation_limited low_record_burden_gene KAT6B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KARS1 mondo_mondo_0030893_medgen_c5542996_omim_619147 Leukoencephalopathy, progressive, infantile-onset, with or without deafness MONDO:MONDO:0030893,MedGen:C5542996,OMIM:619147 9 9 1.0000 condition_record_support_limited 20 0 6 Leukoencephalopathy,_progressive,_infantile-onset,_with_or_without_deafness 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGB3 mondo_mondo_0031332_medgen_cn300358_omim_273800 Glanzmann thrombasthenia 1 MONDO:MONDO:0031332,MedGen:CN300358,OMIM:273800 9 9 1.0000 condition_record_support_limited 20 0 9 Glanzmann_thrombasthenia_1 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INTS1 condition_not_provided condition not provided .|MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 2 See_cases|not_provided 23 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture INS mondo_mondo_0100164_medgen_c1833104_omim_ps606176_orphanet_99885 Permanent neonatal diabetes mellitus MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885 9 9 1.0000 condition_record_support_limited 20 0 9 Permanent_neonatal_diabetes_mellitus 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INS mondo_mondo_0014535_medgen_c0342283_omim_616214 Hyperproinsulinemia MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214 9 9 1.0000 condition_record_support_limited 20 0 5 Hyperproinsulinemia 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL1RN mondo_mondo_0013021_medgen_c2748507_omim_612852_orphanet_210115 Sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:MONDO:0013021,MedGen:C2748507,OMIM:612852,Orphanet:210115 9 9 1.0000 condition_record_support_limited 20 0 4 Sterile_multifocal_osteomyelitis_with_periostitis_and_pustulosis 13 low_record_burden_interpretation_limited low_record_burden_gene IKBKG mondo_mondo_0010480_medgen_c2720289_omim_300908_orphanet_466026 Anemia, nonspherocytic hemolytic, due to G6PD deficiency MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026 9 9 1.0000 condition_record_support_limited 20 0 1 Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGSF1 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 3 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGF2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 4 See_cases|not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT81 mondo_mondo_0033485_medgen_c4693524_omim_617895 Short-rib thoracic dysplasia 19 with or without polydactyly MONDO:MONDO:0033485,MedGen:C4693524,OMIM:617895 9 9 1.0000 condition_record_support_limited 20 0 4 Short-rib_thoracic_dysplasia_19_with_or_without_polydactyly 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFIH1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 6 not_provided 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDUA idua_related_disorder IDUA-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 8 IDUA-related_disorder 419 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDS mondo_mondo_0009655_medgen_c0086647_omim_252900_orphanet_581_orphanet_79269 Mucopolysaccharidosis, MPS-III-A MONDO:MONDO:0009655,MedGen:C0086647,OMIM:252900,Orphanet:581,Orphanet:79269 9 9 1.0000 condition_record_support_limited 20 0 8 Mucopolysaccharidosis,_MPS-III-A 793 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HYLS1 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 4 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HTRA2 mondo_mondo_0044723_medgen_c4310650_omim_617248_orphanet_505208 3-methylglutaconic aciduria type 8 MONDO:MONDO:0044723,MedGen:C4310650,OMIM:617248,Orphanet:505208 9 9 1.0000 condition_record_support_limited 20 0 4 3-methylglutaconic_aciduria_type_8 17 low_record_burden_interpretation_limited low_record_burden_gene HSPG2 mondo_mondo_0009717_medgen_c0036391_orphanet_800 Schwartz-Jampel syndrome MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800 9 9 1.0000 condition_record_support_limited 20 0 4 Schwartz-Jampel_syndrome 116 large_gene_or_donor_burden_stress_case donor_burden_stress HRAS mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 9 9 1.0000 condition_record_support_limited 20 0 8 RASopathy 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HR mondo_mondo_0008847_medgen_c1859592_omim_209500_orphanet_86819 Atrichia with papular lesions MONDO:MONDO:0008847,MedGen:C1859592,OMIM:209500,Orphanet:86819 9 9 1.0000 condition_record_support_limited 20 0 2 Atrichia_with_papular_lesions 33 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture HNRNPH2 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 5 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene HNRNPH2 mondo_mondo_0010512_medgen_c4310814_omim_300986_orphanet_662198 Intellectual disability, X-linked, syndromic, Bain type MONDO:MONDO:0010512,MedGen:C4310814,OMIM:300986,Orphanet:662198 9 9 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability,_X-linked,_syndromic,_Bain_type 14 low_record_burden_interpretation_limited low_record_burden_gene HMGA2 mondo_mondo_0020795_medgen_c5394456_omim_618908 Silver-Russell syndrome 5 MONDO:MONDO:0020795,MedGen:C5394456,OMIM:618908 9 9 1.0000 condition_record_support_limited 20 0 2 Silver-Russell_syndrome_5 9 low_record_burden_interpretation_limited low_record_burden_gene HIVEP2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 74 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture HEXA hexa_related_disorder HEXA-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 9 HEXA-related_disorder 331 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HERC2 condition_not_provided condition not provided .|MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 1 See_cases|not_provided 23 large_gene_or_donor_burden_stress_case donor_burden_stress HEPACAM mondo_mondo_0013490_medgen_c3151355_omim_613925_orphanet_2478 Megalencephalic leukoencephalopathy with subcortical cysts 2A MONDO:MONDO:0013490,MedGen:C3151355,OMIM:613925,Orphanet:2478 9 9 1.0000 condition_record_support_limited 20 0 5 Megalencephalic_leukoencephalopathy_with_subcortical_cysts_2A 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HCN1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 4 not_provided 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HBA2 medgen_c3279561 Hemoglobin H disease, nondeletional MedGen:C3279561 9 9 1.0000 condition_record_support_limited 20 0 9 Hemoglobin_H_disease,_nondeletional 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HAAO mondo_mondo_0060554_medgen_c4540004_omim_617660 Vertebral, cardiac, renal, and limb defects syndrome 1 MONDO:MONDO:0060554,MedGen:C4540004,OMIM:617660 9 9 1.0000 condition_record_support_limited 20 0 6 Vertebral,_cardiac,_renal,_and_limb_defects_syndrome_1 10 low_record_burden_interpretation_limited low_record_burden_gene GYG1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 5 not_provided|not_specified 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUSB condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 7 not_provided 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY1A1 mondo_mondo_0014331_medgen_c3810403_omim_615750_orphanet_401945 Moyamoya disease with early-onset achalasia MONDO:MONDO:0014331,MedGen:C3810403,OMIM:615750,Orphanet:401945 9 9 1.0000 condition_record_support_limited 20 0 3 Moyamoya_disease_with_early-onset_achalasia 14 low_record_burden_interpretation_limited low_record_burden_gene GTF3C3 mondo_mondo_0978301_medgen_c6012725_omim_621201 Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures MONDO:MONDO:0978301,MedGen:C6012725,OMIM:621201 9 9 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_dysmorphic_facies,_brain_anomalies,_and_seizures 10 low_record_burden_interpretation_limited low_record_burden_gene GRN grn_related_disorder GRN-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 5 GRN-related_disorder 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP1BB condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 9 9 1.0000 condition_record_support_limited 20 9 4 not_provided|not_specified 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 9 9 1.0000 condition_record_support_limited 20 0 9 Seizure 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 neurodevelopmental_disability Neurodevelopmental Disability . 9 9 1.0000 condition_record_support_limited 20 0 9 Neurodevelopmental_Disability 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 9 9 1.0000 condition_record_support_limited 20 0 7 Intellectual_disability 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 9 9 1.0000 condition_record_support_limited 20 0 9 Hypotonia 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 9 9 1.0000 condition_record_support_limited 20 0 9 Global_developmental_delay 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAL human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 9 9 1.0000 condition_record_support_limited 20 0 1 Dystonic_disorder 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAL mondo_mondo_0014033_medgen_c4304670_omim_615073_orphanet_329466 Dystonia 25 MONDO:MONDO:0014033,MedGen:C4304670,OMIM:615073,Orphanet:329466 9 9 1.0000 condition_record_support_limited 20 0 1 Dystonia_25 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNA11 condition_not_provided condition not provided .|MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 3 See_cases|not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI2 gli2_related_disorder GLI2-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 2 GLI2-related_disorder 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLDC gldc_related_disorder GLDC-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 9 GLDC-related_disorder 481 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLB1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 9 Inborn_genetic_diseases 322 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA8 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 8 not_provided 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 7 not_provided 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GIGYF2 mondo_mondo_0013613_medgen_c3280062_omim_614186_orphanet_65 Leber congenital amaurosis 16 MONDO:MONDO:0013613,MedGen:C3280062,OMIM:614186,Orphanet:65 9 9 1.0000 condition_record_support_limited 20 0 3 Leber_congenital_amaurosis_16 11 low_record_burden_interpretation_limited low_record_burden_gene GDF5 mondo_mondo_0008703_medgen_c0265260_omim_200700_orphanet_2098 Grebe syndrome MONDO:MONDO:0008703,MedGen:C0265260,OMIM:200700,Orphanet:2098 9 9 1.0000 condition_record_support_limited 20 0 5 Grebe_syndrome 52 compact_adjacent_exon_block_opportunity local_compact_architecture GCM2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 5 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCDH gcdh_related_disorder GCDH-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 9 GCDH-related_disorder 324 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GC human_phenotype_ontology_hp_0006510_mondo_mondo_0005002_medgen_c0024117_omim_606963 Chronic obstructive pulmonary disease Human_Phenotype_Ontology:HP:0006510,MONDO:MONDO:0005002,MedGen:C0024117,OMIM:606963 9 9 1.0000 condition_record_support_limited 20 0 0 Chronic_obstructive_pulmonary_disease 9 low_record_burden_interpretation_limited low_record_burden_gene GBA2 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 3 not_provided 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA6 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 2 not_provided 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA2 mondo_mondo_0018881_mesh_d009190_medgen_c3463824_omim_614286_orphanet_52688 Myelodysplastic syndrome MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688 9 9 1.0000 condition_record_support_limited 20 0 7 Myelodysplastic_syndrome 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABBR2 mondo_mondo_0033368_medgen_c4693550_omim_617904 Developmental and epileptic encephalopathy, 59 MONDO:MONDO:0033368,MedGen:C4693550,OMIM:617904 9 9 1.0000 condition_record_support_limited 20 0 3 Developmental_and_epileptic_encephalopathy,_59 15 low_record_burden_interpretation_limited low_record_burden_gene FUCA1 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 5 not_provided 87 compact_adjacent_exon_block_opportunity local_compact_architecture FTL condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 7 not_provided 31 compact_adjacent_exon_block_opportunity local_compact_architecture FREM2 mondo_mondo_0054737_medgen_c4551480_omim_219000_orphanet_2052 Fraser syndrome 1 MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052 9 9 1.0000 condition_record_support_limited 20 0 3 Fraser_syndrome_1 129 compact_adjacent_exon_block_opportunity local_compact_architecture FRAS1 fras1_related_disorder FRAS1-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 6 FRAS1-related_disorder 315 large_gene_or_donor_burden_stress_case donor_burden_stress FN1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 6 See_cases|not_provided 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FN1 human_phenotype_ontology_hp_0002657_mondo_mondo_0016763_medgen_c4759767_omim_ps184255_orphanet_254 Spondylometaphyseal dysplasia Human_Phenotype_Ontology:HP:0002657,MONDO:MONDO:0016763,MedGen:C4759767,OMIM:PS184255,Orphanet:254 9 9 1.0000 condition_record_support_limited 20 0 7 Spondylometaphyseal_dysplasia 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLT3 human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Acute myeloid leukemia Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 9 9 1.0000 condition_record_support_limited 20 0 2 Acute_myeloid_leukemia 12 low_record_burden_interpretation_limited low_record_burden_gene FLNC dilated_cardiomyopathy_dominant Dilated Cardiomyopathy, Dominant . 9 9 1.0000 condition_record_support_limited 20 0 9 Dilated_Cardiomyopathy,_Dominant 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLG mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 9 Inborn_genetic_diseases 246 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLG flg_related_disorder FLG-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 8 FLG-related_disorder 246 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLCN pneumothorax_familial Pneumothorax - familial . 9 9 1.0000 condition_record_support_limited 20 0 8 Pneumothorax_-_familial 425 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FLAD1 mondo_mondo_0009282_medgen_c0268596_omim_231680_orphanet_26791 Multiple acyl-CoA dehydrogenase deficiency MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680,Orphanet:26791 9 9 1.0000 condition_record_support_limited 20 0 7 Multiple_acyl-CoA_dehydrogenase_deficiency 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FIG4 fig4_related_disorder FIG4-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 8 FIG4-related_disorder 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FIG4 mondo_mondo_0012986_medgen_c4013648_omim_612691_orphanet_208441 Bilateral parasagittal parieto-occipital polymicrogyria MONDO:MONDO:0012986,MedGen:C4013648,OMIM:612691,Orphanet:208441 9 9 1.0000 condition_record_support_limited 20 0 8 Bilateral_parasagittal_parieto-occipital_polymicrogyria 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGG mondo_mondo_0008737_medgen_c2584774_omim_202400_orphanet_335_orphanet_98880 Congenital afibrinogenemia MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880 9 9 1.0000 condition_record_support_limited 20 0 4 Congenital_afibrinogenemia 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 mondo_mondo_0008603_medgen_c0432122_omim_190440_orphanet_3366 Trigonocephaly 1 MONDO:MONDO:0008603,MedGen:C0432122,OMIM:190440,Orphanet:3366 9 9 1.0000 condition_record_support_limited 20 0 9 Trigonocephaly_1 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 mondo_mondo_0007400_medgen_c0795998_omim_123150_orphanet_1540 Jackson-Weiss syndrome MONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150,Orphanet:1540 9 9 1.0000 condition_record_support_limited 20 0 9 Jackson-Weiss_syndrome 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGF3 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 4 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGF14 mondo_mondo_0008654_medgen_cn031884_omim_193003 Spinocerebellar ataxia 27A MONDO:MONDO:0008654,MedGen:CN031884,OMIM:193003 9 9 1.0000 condition_record_support_limited 20 0 3 Spinocerebellar_ataxia_27A 18 low_record_burden_interpretation_limited low_record_burden_gene FGD1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGD1 fgd1_related_disorder FGD1-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 6 FGD1-related_disorder 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGA human_phenotype_ontology_hp_0011900_medgen_c0553681 Hypofibrinogenemia Human_Phenotype_Ontology:HP:0011900,MedGen:C0553681 9 9 1.0000 condition_record_support_limited 20 0 5 Hypofibrinogenemia 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 7 Inborn_genetic_diseases 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAR1 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 3 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene FAM20C condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 3 not_provided 27 compact_adjacent_exon_block_opportunity local_compact_architecture FAM149B1 mondo_mondo_0032902_medgen_c5231493_omim_618763 Joubert syndrome 36 MONDO:MONDO:0032902,MedGen:C5231493,OMIM:618763 9 9 1.0000 condition_record_support_limited 20 0 1 Joubert_syndrome_36 10 low_record_burden_interpretation_limited low_record_burden_gene F12 human_phenotype_ontology_hp_0004841_human_phenotype_ontology_hp_0005514_human_phenotype_ontology_hp_0005551_human_phenotype_ontology_hp_0008286_mondo_mondo_0009315_medgen_c0015526_omim_234000_orphanet_330 Factor XII deficiency disease Human_Phenotype_Ontology:HP:0004841,Human_Phenotype_Ontology:HP:0005514,Human_Phenotype_Ontology:HP:0005551,Human_Phenotype_Ontology:HP:0008286,MONDO:MONDO:0009315,MedGen:C0015526,OMIM:234000,Orphanet:330 9 9 1.0000 condition_record_support_limited 20 0 3 Factor_XII_deficiency_disease 19 low_record_burden_interpretation_limited low_record_burden_gene F11 f11_related_disorder F11-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 7 F11-related_disorder 216 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXT2 ext2_related_disorder EXT2-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 5 EXT2-related_disorder 221 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXOSC3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 9 9 1.0000 condition_record_support_limited 20 9 7 not_provided|not_specified 50 compact_adjacent_exon_block_opportunity local_compact_architecture EXOSC3 mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 Pontoneocerebellar hypoplasia MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 9 9 1.0000 condition_record_support_limited 20 0 6 Pontoneocerebellar_hypoplasia 50 compact_adjacent_exon_block_opportunity local_compact_architecture ESRRB condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 1 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERLIN2 mondo_mondo_0012639_medgen_c2749936_orphanet_209951 Hereditary spastic paraplegia 18 MONDO:MONDO:0012639,MedGen:C2749936,Orphanet:209951 9 9 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia_18 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC1 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 1 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene ERBB3 mondo_mondo_8000011_medgen_c1855733_omim_243180_orphanet_99811 Visceral neuropathy, familial, 1, autosomal recessive MONDO:MONDO:8000011,MedGen:C1855733,OMIM:243180,Orphanet:99811 9 9 1.0000 condition_record_support_limited 20 0 3 Visceral_neuropathy,_familial,_1,_autosomal_recessive 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPS8 mondo_mondo_0014428_medgen_c3892050_omim_615974_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 102 MONDO:MONDO:0014428,MedGen:C3892050,OMIM:615974,Orphanet:90636 9 9 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_nonsyndromic_hearing_loss_102 13 low_record_burden_interpretation_limited low_record_burden_gene EP300 mondo_mondo_0020769_medgen_c5193035_omim_618333 Menke-Hennekam syndrome 2 MONDO:MONDO:0020769,MedGen:C5193035,OMIM:618333 9 9 1.0000 condition_record_support_limited 20 0 5 Menke-Hennekam_syndrome_2 264 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ENTPD5 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 4 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENPP1 enpp1_related_disorder ENPP1-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 6 ENPP1-related_disorder 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENAM mondo_mondo_0007092_medgen_c0399368_omim_104500_orphanet_88661 Amelogenesis imperfecta - hypoplastic autosomal dominant - local MONDO:MONDO:0007092,MedGen:C0399368,OMIM:104500,Orphanet:88661 9 9 1.0000 condition_record_support_limited 20 0 4 Amelogenesis_imperfecta_-_hypoplastic_autosomal_dominant_-_local 15 low_record_burden_interpretation_limited low_record_burden_gene EIF5A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 9 9 1.0000 condition_record_support_limited 20 9 3 not_provided|not_specified 14 low_record_burden_interpretation_limited low_record_burden_gene EIF4A2 mondo_mondo_0957541_medgen_c5830654_omim_620455 Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures MONDO:MONDO:0957541,MedGen:C5830654,OMIM:620455 9 9 1.0000 condition_record_support_limited 20 0 5 Neurodevelopmental_disorder_with_hypotonia_and_speech_delay,_with_or_without_seizures 18 low_record_burden_interpretation_limited low_record_burden_gene EIF4A2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 9 9 1.0000 condition_record_support_limited 20 0 4 Neurodevelopmental_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene EIF2B4 mondo_mondo_0957872_medgen_c5830406_omim_620314 Leukoencephalopathy with vanishing white matter 4 MONDO:MONDO:0957872,MedGen:C5830406,OMIM:620314 9 9 1.0000 condition_record_support_limited 20 0 3 Leukoencephalopathy_with_vanishing_white_matter_4 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFEMP2 mondo_mondo_0009052_medgen_c5848058_omim_219100_orphanet_90349 Cutis laxa, autosomal recessive, type 1A MONDO:MONDO:0009052,MedGen:C5848058,OMIM:219100,Orphanet:90349 9 9 1.0000 condition_record_support_limited 20 0 9 Cutis_laxa,_autosomal_recessive,_type_1A 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DZIP1L condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 1 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene DUOX2 mondo_mondo_0010132_medgen_c4273748_omim_ps274400_orphanet_95716 Familial thyroid dyshormonogenesis MONDO:MONDO:0010132,MedGen:C4273748,OMIM:PS274400,Orphanet:95716 9 9 1.0000 condition_record_support_limited 20 0 9 Familial_thyroid_dyshormonogenesis 239 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSG2 mondo_mondo_0013030_medgen_c2752072_omim_612877_orphanet_154 Dilated cardiomyopathy 1BB MONDO:MONDO:0013030,MedGen:C2752072,OMIM:612877,Orphanet:154 9 9 1.0000 condition_record_support_limited 20 0 9 Dilated_cardiomyopathy_1BB 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DRC1 mondo_mondo_0014123_medgen_c3809087_omim_615294_orphanet_244 Primary ciliary dyskinesia 21 MONDO:MONDO:0014123,MedGen:C3809087,OMIM:615294,Orphanet:244 9 9 1.0000 condition_record_support_limited 20 0 5 Primary_ciliary_dyskinesia_21 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DRAM2 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 9 9 1.0000 condition_record_support_limited 20 0 6 Retinal_dystrophy 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DRAM2 human_phenotype_ontology_hp_0030635_mondo_mondo_0014669_medgen_c4049066_omim_616502_orphanet_1872 Cone-rod dystrophy 21 Human_Phenotype_Ontology:HP:0030635,MONDO:MONDO:0014669,MedGen:C4049066,OMIM:616502,Orphanet:1872 9 9 1.0000 condition_record_support_limited 20 0 7 Cone-rod_dystrophy_21 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DPM2 mondo_mondo_0014023_medgen_c5190603_omim_615042_orphanet_329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy MONDO:MONDO:0014023,MedGen:C5190603,OMIM:615042,Orphanet:329178 9 9 1.0000 condition_record_support_limited 20 0 0 Congenital_muscular_dystrophy_with_intellectual_disability_and_severe_epilepsy 9 low_record_burden_interpretation_limited low_record_burden_gene DPH1 mondo_mondo_0800438_medgen_cn323360_omim_616901 Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:MONDO:0800438,MedGen:CN323360,OMIM:616901 9 9 1.0000 condition_record_support_limited 20 0 5 Developmental_delay_with_short_stature,_dysmorphic_facial_features,_and_sparse_hair_1 14 low_record_burden_interpretation_limited low_record_burden_gene DNMT1 mondo_mondo_0013584_medgen_c3279885_omim_614116_orphanet_456318 Hereditary sensory neuropathy-deafness-dementia syndrome MONDO:MONDO:0013584,MedGen:C3279885,OMIM:614116,Orphanet:456318 9 9 1.0000 condition_record_support_limited 20 0 5 Hereditary_sensory_neuropathy-deafness-dementia_syndrome 13 low_record_burden_interpretation_limited low_record_burden_gene DNAJC3 mondo_mondo_0014523_medgen_c4015436_omim_616192_orphanet_445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:MONDO:0014523,MedGen:C4015436,OMIM:616192,Orphanet:445062 9 9 1.0000 condition_record_support_limited 20 0 2 Juvenile-onset_diabetes_mellitus-central_and_peripheral_neurodegeneration_syndrome 10 low_record_burden_interpretation_limited low_record_burden_gene DNAJB13 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 0 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene DNAI1 condition_not_provided condition not provided .|MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 8 See_cases|not_provided 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DMD mondo_mondo_0016106_medgen_c4551827_orphanet_206644 Progressive muscular dystrophy MONDO:MONDO:0016106,MedGen:C4551827,Orphanet:206644 9 9 1.0000 condition_record_support_limited 20 0 6 Progressive_muscular_dystrophy 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DLD condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 6 not_provided 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIP2C condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 0 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene DHTKD1 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 5 not_provided 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHTKD1 mondo_mondo_0014012_medgen_c3554366_omim_615025_orphanet_329258 Charcot-Marie-Tooth disease axonal type 2Q MONDO:MONDO:0014012,MedGen:C3554366,OMIM:615025,Orphanet:329258 9 9 1.0000 condition_record_support_limited 20 0 8 Charcot-Marie-Tooth_disease_axonal_type_2Q 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHODH mondo_mondo_0009903_medgen_c0265257_omim_263750_orphanet_246 Miller syndrome MONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750,Orphanet:246 9 9 1.0000 condition_record_support_limited 20 0 3 Miller_syndrome 11 low_record_burden_interpretation_limited low_record_burden_gene DHDDS condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 7 not_provided 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DEGS1 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 4 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene DDB2 mondo_mondo_0010213_medgen_c1848411_omim_278740_orphanet_910 Xeroderma pigmentosum, group E MONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740,Orphanet:910 9 9 1.0000 condition_record_support_limited 20 0 2 Xeroderma_pigmentosum,_group_E 15 low_record_burden_interpretation_limited low_record_burden_gene DCX human_phenotype_ontology_hp_0002536_human_phenotype_ontology_hp_0006900_medgen_c1856019 Abnormal cortical gyration Human_Phenotype_Ontology:HP:0002536,Human_Phenotype_Ontology:HP:0006900,MedGen:C1856019 9 9 1.0000 condition_record_support_limited 20 0 2 Abnormal_cortical_gyration 165 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCLRE1C human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 9 9 1.0000 condition_record_support_limited 20 0 8 Severe_combined_immunodeficiency_disease 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DBH mondo_mondo_0009123_medgen_c4746777_omim_223360_orphanet_230 Orthostatic hypotension 1 MONDO:MONDO:0009123,MedGen:C4746777,OMIM:223360,Orphanet:230 9 9 1.0000 condition_record_support_limited 20 0 1 Orthostatic_hypotension_1 10 low_record_burden_interpretation_limited low_record_burden_gene DAG1 mondo_mondo_0014683_medgen_c4225291_omim_616538_orphanet_370997_orphanet_899 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538,Orphanet:370997,Orphanet:899 9 9 1.0000 condition_record_support_limited 20 0 8 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A9 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP27B1 mondo_mondo_0009924_medgen_c0268689_orphanet_289157 Vitamin D-dependent rickets, type 1 MONDO:MONDO:0009924,MedGen:C0268689,Orphanet:289157 9 9 1.0000 condition_record_support_limited 20 0 7 Vitamin_D-dependent_rickets,_type_1 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP1B1 cyp1b1_related_disorder CYP1B1-related disorder MedGen:CN239260 9 9 1.0000 condition_record_support_limited 20 0 9 CYP1B1-related_disorder 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP17A1 mondo_mondo_0800380_medgen_c4017190 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial MONDO:MONDO:0800380,MedGen:C4017190 9 9 1.0000 condition_record_support_limited 20 0 5 17-alpha-hydroxylase/17,20-lyase_deficiency,_combined_partial 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSA condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 5 not_provided 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNS ctns_related_disorder CTNS-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 9 CTNS-related_disorder 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNND1 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 3 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 mondo_mondo_0033123_medgen_c4539767_omim_617572 Exudative vitreoretinopathy 7 MONDO:MONDO:0033123,MedGen:C4539767,OMIM:617572 9 9 1.0000 condition_record_support_limited 20 0 7 Exudative_vitreoretinopathy_7 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSTB mondo_mondo_0020074_medgen_c0751778_omim_ps254800_orphanet_308_orphanet_98261 Progressive myoclonic epilepsy MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261 9 9 1.0000 condition_record_support_limited 20 0 6 Progressive_myoclonic_epilepsy 20 compact_adjacent_exon_block_opportunity local_compact_architecture CRYGC mondo_mondo_0100436_medgen_c4721890_omim_604307_orphanet_91492 Cataract 2, multiple types MONDO:MONDO:0100436,MedGen:C4721890,OMIM:604307,Orphanet:91492 9 9 1.0000 condition_record_support_limited 20 0 2 Cataract_2,_multiple_types 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRBN condition_not_provided condition not provided .|MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 3 See_cases|not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene CPLANE1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 7 Inborn_genetic_diseases 343 large_gene_or_donor_burden_stress_case donor_burden_stress COQ4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 7 not_provided 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A1 col6a1_related_disorder COL6A1-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 7 COL6A1-related_disorder 194 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL3A1 mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 Ehlers-Danlos syndrome MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 9 9 1.0000 condition_record_support_limited 20 0 5 Ehlers-Danlos_syndrome 937 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 mondo_mondo_0008159_medgen_c0029458 Postmenopausal osteoporosis MONDO:MONDO:0008159,MedGen:C0029458 9 9 1.0000 condition_record_support_limited 20 0 9 Postmenopausal_osteoporosis 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL18A1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 9 9 1.0000 condition_record_support_limited 20 0 7 Retinal_dystrophy 214 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COG6 mondo_mondo_0014131_medgen_c3809160_omim_615328_orphanet_363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome MONDO:MONDO:0014131,MedGen:C3809160,OMIM:615328,Orphanet:363523 9 9 1.0000 condition_record_support_limited 20 0 9 Hypohidrosis-enamel_hypoplasia-palmoplantar_keratoderma-intellectual_disability_syndrome 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COASY condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 9 9 1.0000 condition_record_support_limited 20 9 5 See_cases|not_provided|not_specified 30 compact_adjacent_exon_block_opportunity local_compact_architecture COA8 mondo_mondo_0033652_medgen_c5436718_omim_619061 Mitochondrial complex IV deficiency, nuclear type 17 MONDO:MONDO:0033652,MedGen:C5436718,OMIM:619061 9 9 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_IV_deficiency,_nuclear_type_17 15 low_record_burden_interpretation_limited low_record_burden_gene CNTNAP2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 7 Inborn_genetic_diseases 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNNM4 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 9 9 1.0000 condition_record_support_limited 20 0 4 Retinal_dystrophy 49 compact_adjacent_exon_block_opportunity local_compact_architecture CNNM2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 3 See_cases|not_provided 39 compact_adjacent_exon_block_opportunity local_compact_architecture CLRN1 mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 Usher syndrome MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 9 9 1.0000 condition_record_support_limited 20 0 9 Usher_syndrome 97 compact_adjacent_exon_block_opportunity local_compact_architecture CLN3 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 9 9 1.0000 condition_record_support_limited 20 0 8 Retinal_dystrophy 220 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 8 Inborn_genetic_diseases 220 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLDN14 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 3 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene CLCN4 clcn4_related_disorder CLCN4-related disorder MedGen:CN232948 9 9 1.0000 condition_record_support_limited 20 0 4 CLCN4-related_disorder 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRND condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 7 not_provided 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNA1 mondo_mondo_0011088_medgen_c2931107_omim_601462 Congenital myasthenic syndrome 1A MONDO:MONDO:0011088,MedGen:C2931107,OMIM:601462 9 9 1.0000 condition_record_support_limited 20 0 3 Congenital_myasthenic_syndrome_1A 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHEK2 predisposition_to_cancer Predisposition to cancer . 9 9 1.0000 condition_record_support_limited 20 0 8 Predisposition_to_cancer 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 1 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 9 9 1.0000 condition_record_support_limited 20 0 9 Breast-ovarian_cancer,_familial,_susceptibility_to,_1 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 9 9 1.0000 condition_record_support_limited 20 0 7 Breast_carcinoma 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHD8 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 9 9 1.0000 condition_record_support_limited 20 0 6 Autism_spectrum_disorder 212 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD1 mondo_mondo_0060568_medgen_c4540131_omim_617682_orphanet_529965 Pilarowski-Bjornsson syndrome MONDO:MONDO:0060568,MedGen:C4540131,OMIM:617682,Orphanet:529965 9 9 1.0000 condition_record_support_limited 20 0 1 Pilarowski-Bjornsson_syndrome 11 low_record_burden_interpretation_limited low_record_burden_gene CFAP410 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 9 9 1.0000 condition_record_support_limited 20 0 7 Retinal_dystrophy 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP298 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 4 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene CEP85L posterior_predominant_lissencephaly Posterior Predominant Lissencephaly . 9 9 1.0000 condition_record_support_limited 20 0 6 Posterior_Predominant_Lissencephaly 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP164 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 5 not_provided 136 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDK10 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 8 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH3 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 9 9 1.0000 condition_record_support_limited 20 0 7 Retinal_dystrophy 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH2 human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Corpus callosum, agenesis of Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 9 9 1.0000 condition_record_support_limited 20 0 9 Corpus_callosum,_agenesis_of 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH2 axon_pathfinding_cardiac_ocular_and_genital_defects Axon pathfinding, cardiac, ocular and genital defects . 9 9 1.0000 condition_record_support_limited 20 0 9 Axon_pathfinding,_cardiac,_ocular_and_genital_defects 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH2 mondo_mondo_0030065_medgen_c5394523_omim_618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome MONDO:MONDO:0030065,MedGen:C5394523,OMIM:618929 9 9 1.0000 condition_record_support_limited 20 0 7 Agenesis_of_corpus_callosum,_cardiac,_ocular,_and_genital_syndrome 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH1 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 9 9 1.0000 condition_record_support_limited 20 0 6 Gastric_cancer 622 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CDC45 mondo_mondo_0014894_medgen_c4310738_omim_617063_orphanet_2554 Meier-Gorlin syndrome 7 MONDO:MONDO:0014894,MedGen:C4310738,OMIM:617063,Orphanet:2554 9 9 1.0000 condition_record_support_limited 20 0 1 Meier-Gorlin_syndrome_7 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC42 human_phenotype_ontology_hp_0008844_human_phenotype_ontology_hp_0008865_human_phenotype_ontology_hp_0008868_human_phenotype_ontology_hp_0008897_human_phenotype_ontology_hp_0008901_human_phenotype_ontology_hp_0008918_medgen_c1859778 Postnatal growth retardation Human_Phenotype_Ontology:HP:0008844,Human_Phenotype_Ontology:HP:0008865,Human_Phenotype_Ontology:HP:0008868,Human_Phenotype_Ontology:HP:0008897,Human_Phenotype_Ontology:HP:0008901,Human_Phenotype_Ontology:HP:0008918,MedGen:C1859778 9 9 1.0000 condition_record_support_limited 20 0 9 Postnatal_growth_retardation 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC42 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 9 9 1.0000 condition_record_support_limited 20 0 9 Neurodevelopmental_abnormality 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC42 human_phenotype_ontology_hp_0002715_human_phenotype_ontology_hp_0003257_human_phenotype_ontology_hp_0003346_human_phenotype_ontology_hp_0010986_medgen_c4021753 Abnormality of the immune system Human_Phenotype_Ontology:HP:0002715,Human_Phenotype_Ontology:HP:0003257,Human_Phenotype_Ontology:HP:0003346,Human_Phenotype_Ontology:HP:0010986,MedGen:C4021753 9 9 1.0000 condition_record_support_limited 20 0 9 Abnormality_of_the_immune_system 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC42 human_phenotype_ontology_hp_0001871_human_phenotype_ontology_hp_0003135_medgen_c0850715 Abnormality of blood and blood-forming tissues Human_Phenotype_Ontology:HP:0001871,Human_Phenotype_Ontology:HP:0003135,MedGen:C0850715 9 9 1.0000 condition_record_support_limited 20 0 9 Abnormality_of_blood_and_blood-forming_tissues 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC42 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 9 9 1.0000 condition_record_support_limited 20 0 9 Abnormal_facial_shape 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD59 mondo_mondo_0012858_medgen_c2676767_omim_612300_orphanet_169464 Primary CD59 deficiency MONDO:MONDO:0012858,MedGen:C2676767,OMIM:612300,Orphanet:169464 9 9 1.0000 condition_record_support_limited 20 0 2 Primary_CD59_deficiency 10 low_record_burden_interpretation_limited low_record_burden_gene CCDC8 mondo_mondo_0013627_medgen_c3280146_omim_614205_orphanet_2616 3M syndrome 3 MONDO:MONDO:0013627,MedGen:C3280146,OMIM:614205,Orphanet:2616 9 9 1.0000 condition_record_support_limited 20 0 1 3M_syndrome_3 10 low_record_burden_interpretation_limited low_record_burden_gene CCDC40 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 7 not_provided 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 9 9 1.0000 condition_record_support_limited 20 0 5 Retinal_dystrophy 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBS medgen_c3502110 Homocystinuria, pyridoxine-responsive MedGen:C3502110 9 9 1.0000 condition_record_support_limited 20 0 9 Homocystinuria,_pyridoxine-responsive 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAV3 mondo_mondo_0019947_medgen_c1832560_omim_606072_orphanet_265 Rippling muscle disease 2 MONDO:MONDO:0019947,MedGen:C1832560,OMIM:606072,Orphanet:265 9 9 1.0000 condition_record_support_limited 20 0 8 Rippling_muscle_disease_2 26 compact_adjacent_exon_block_opportunity local_compact_architecture CASR mondo_mondo_0018543_medgen_c4048195_omim_ps601198_orphanet_428 Autosomal dominant hypocalcemia MONDO:MONDO:0018543,MedGen:C4048195,OMIM:PS601198,Orphanet:428 9 9 1.0000 condition_record_support_limited 20 0 8 Autosomal_dominant_hypocalcemia 313 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CARD11 mondo_mondo_0054697_medgen_c4539957_omim_617638 Immunodeficiency 11b with atopic dermatitis MONDO:MONDO:0054697,MedGen:C4539957,OMIM:617638 9 9 1.0000 condition_record_support_limited 20 0 3 Immunodeficiency_11b_with_atopic_dermatitis 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPRIN1 mondo_mondo_0968945_medgen_c5935603_omim_620782 Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder MONDO:MONDO:0968945,MedGen:C5935603,OMIM:620782 9 9 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_language_impairment,_autism,_and_attention_deficit-hyperactivity_disorder 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAMTA1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAMK2B mondo_mondo_0030920_medgen_c4540484_omim_617799 Intellectual disability, autosomal dominant 54 MONDO:MONDO:0030920,MedGen:C4540484,OMIM:617799 9 9 1.0000 condition_record_support_limited 20 0 6 Intellectual_disability,_autosomal_dominant_54 17 low_record_burden_interpretation_limited low_record_burden_gene CAMK2B human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 9 9 1.0000 condition_record_support_limited 20 0 7 Intellectual_disability 17 low_record_burden_interpretation_limited low_record_burden_gene CA5A mondo_mondo_0014332_medgen_c4706871_omim_615751_orphanet_401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MONDO:MONDO:0014332,MedGen:C4706871,OMIM:615751,Orphanet:401948 9 9 1.0000 condition_record_support_limited 20 0 2 Hyperammonemic_encephalopathy_due_to_carbonic_anhydrase_VA_deficiency 9 low_record_burden_interpretation_limited low_record_burden_gene C1QBP condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 1 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene C11ORF65 mondo_mondo_0018604_medgen_c3896578_orphanet_440437 Familial colorectal cancer type X MONDO:MONDO:0018604,MedGen:C3896578,Orphanet:440437 9 9 1.0000 condition_record_support_limited 20 0 8 Familial_colorectal_cancer_type_X 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BUB1B condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 6 not_provided 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BTD btd_related_disorder BTD-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 9 BTD-related_disorder 251 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRIP1 inherited_ovarian_cancer_without_breast_cancer Inherited ovarian cancer (without breast cancer) . 9 9 1.0000 condition_record_support_limited 20 0 9 Inherited_ovarian_cancer_(without_breast_cancer) 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 Carcinoma of pancreas MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 9 9 1.0000 condition_record_support_limited 20 0 8 Carcinoma_of_pancreas 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 human_phenotype_ontology_hp_0025318_mondo_mondo_0005140_medgen_c4721610 Ovarian carcinoma Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610 9 9 1.0000 condition_record_support_limited 20 0 8 Ovarian_carcinoma 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRAT1 brat1_related_disorder BRAT1-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 6 BRAT1-related_disorder 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BPTF mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BMP4 mondo_mondo_0011936_medgen_c1864689_omim_607932_orphanet_139471 Microphthalmia with brain and digit anomalies MONDO:MONDO:0011936,MedGen:C1864689,OMIM:607932,Orphanet:139471 9 9 1.0000 condition_record_support_limited 20 0 2 Microphthalmia_with_brain_and_digit_anomalies 16 low_record_burden_interpretation_limited low_record_burden_gene BGN condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 4 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene BGN mondo_mondo_0010515_medgen_c4310811_omim_300989 Meester-Loeys syndrome MONDO:MONDO:0010515,MedGen:C4310811,OMIM:300989 9 9 1.0000 condition_record_support_limited 20 0 5 Meester-Loeys_syndrome 17 low_record_burden_interpretation_limited low_record_burden_gene BCAP31 mondo_mondo_0010334_medgen_c3806634_omim_300475_orphanet_369939_orphanet_369942 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:MONDO:0010334,MedGen:C3806634,OMIM:300475,Orphanet:369939,Orphanet:369942 9 9 1.0000 condition_record_support_limited 20 0 2 Severe_motor_and_intellectual_disabilities-sensorineural_deafness-dystonia_syndrome 17 low_record_burden_interpretation_limited low_record_burden_gene BBS7 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 7 not_provided 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS4 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 8 not_provided 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BAG3 efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 9 9 1.0000 condition_record_support_limited 20 0 9 Primary_dilated_cardiomyopathy 154 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B9D1 mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 Meckel-Gruber syndrome MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 9 9 1.0000 condition_record_support_limited 20 0 8 Meckel-Gruber_syndrome 14 low_record_burden_interpretation_limited low_record_burden_gene B9D1 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 9 9 1.0000 condition_record_support_limited 20 0 9 Joubert_syndrome 14 low_record_burden_interpretation_limited low_record_burden_gene B4GALNT1 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 5 not_provided 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B3GLCT condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 4 See_cases|not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B3GAT3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 7 not_provided 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B3GALT6 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 6 not_provided 36 single_exon_hotspot_opportunity local_compact_architecture AXIN2 mondo_mondo_0018426_medgen_c5680012_orphanet_401911 AXIN2-related attenuated familial adenomatous polyposis MONDO:MONDO:0018426,MedGen:C5680012,Orphanet:401911 9 9 1.0000 condition_record_support_limited 20 0 5 AXIN2-related_attenuated_familial_adenomatous_polyposis 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATRX mondo_mondo_0010328_medgen_c0585216_omim_300448_orphanet_231401 Acquired hemoglobin H disease MONDO:MONDO:0010328,MedGen:C0585216,OMIM:300448,Orphanet:231401 9 9 1.0000 condition_record_support_limited 20 0 7 Acquired_hemoglobin_H_disease 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATRIP trex1_related_disorder TREX1-related disorder MedGen:CN239414 9 9 1.0000 condition_record_support_limited 20 0 8 TREX1-related_disorder 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP9A mondo_mondo_0859377_medgen_c5830273_omim_620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities MONDO:MONDO:0859377,MedGen:C5830273,OMIM:620242 9 9 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_poor_growth_and_behavioral_abnormalities 12 low_record_burden_interpretation_limited low_record_burden_gene ATP6V1B2 mondo_mondo_0014646_medgen_c4225321_omim_616455_orphanet_3473 Zimmermann-Laband syndrome 2 MONDO:MONDO:0014646,MedGen:C4225321,OMIM:616455,Orphanet:3473 9 9 1.0000 condition_record_support_limited 20 0 3 Zimmermann-Laband_syndrome_2 18 low_record_burden_interpretation_limited low_record_burden_gene ATP6V0C condition_not_provided condition not provided .|MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 2 See_cases|not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATN1 mondo_mondo_0032781_medgen_c5193125_omim_618494 Congenital hypotonia, epilepsy, developmental delay, and digital anomalies MONDO:MONDO:0032781,MedGen:C5193125,OMIM:618494 9 9 1.0000 condition_record_support_limited 20 0 8 Congenital_hypotonia,_epilepsy,_developmental_delay,_and_digital_anomalies 10 low_record_burden_interpretation_limited low_record_burden_gene ATG7 mondo_mondo_0030323_medgen_c5543627_omim_619422 Spinocerebellar ataxia, autosomal recessive 31 MONDO:MONDO:0030323,MedGen:C5543627,OMIM:619422 9 9 1.0000 condition_record_support_limited 20 0 0 Spinocerebellar_ataxia,_autosomal_recessive_31 9 low_record_burden_interpretation_limited low_record_burden_gene ASS1 ass1_related_disorder ASS1-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 8 ASS1-related_disorder 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARSL mondo_mondo_0011238_medgen_c1844853_omim_602497 Chondrodysplasia punctata, brachytelephalangic, autosomal MONDO:MONDO:0011238,MedGen:C1844853,OMIM:602497 9 9 1.0000 condition_record_support_limited 20 0 2 Chondrodysplasia_punctata,_brachytelephalangic,_autosomal 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARSA medgen_c4017094 METACHROMATIC LEUKODYSTROPHY, SEVERE MedGen:C4017094 9 9 1.0000 condition_record_support_limited 20 0 9 METACHROMATIC_LEUKODYSTROPHY,_SEVERE 357 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARSA arsa_related_disorder ARSA-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 9 ARSA-related_disorder 357 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARL2BP condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 2 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene ARID1B mondo_mondo_0015452_medgen_c0265338_omim_ps135900_orphanet_1465 Coffin-Siris syndrome MONDO:MONDO:0015452,MedGen:C0265338,OMIM:PS135900,Orphanet:1465 9 9 1.0000 condition_record_support_limited 20 0 5 Coffin-Siris_syndrome 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARHGAP35 mondo_mondo_8000008_medgen_c5542298_omim_212720_orphanet_1387 Martsolf syndrome 1 MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720,Orphanet:1387 9 9 1.0000 condition_record_support_limited 20 0 0 Martsolf_syndrome_1 17 low_record_burden_interpretation_limited low_record_burden_gene ARFGEF2 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 1 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARFGEF1 human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Atypical behavior Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 9 9 1.0000 condition_record_support_limited 20 0 9 Atypical_behavior 79 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARCN1 condition_not_provided condition not provided .|MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 4 See_cases|not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AR differences_in_sex_development Differences in sex development . 9 9 1.0000 condition_record_support_limited 20 0 6 Differences_in_sex_development 365 compact_adjacent_exon_block_opportunity local_compact_architecture APC human_phenotype_ontology_hp_0006753_mondo_mondo_0021085_medgen_c0038356 Neoplasm of stomach Human_Phenotype_Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356 9 9 1.0000 condition_record_support_limited 20 0 9 Neoplasm_of_stomach 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC inherited_polyposis_and_early_onset_colorectal_cancer_germline_testing Inherited polyposis and early onset colorectal cancer - germline testing . 9 9 1.0000 condition_record_support_limited 20 0 8 Inherited_polyposis_and_early_onset_colorectal_cancer_-_germline_testing 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC mondo_mondo_0019336_medgen_c0017097 Gardner syndrome MONDO:MONDO:0019336,MedGen:C0017097 9 9 1.0000 condition_record_support_limited 20 0 9 Gardner_syndrome 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control AP4E1 mondo_mondo_0013401_medgen_c3151056_omim_613744_orphanet_280763 Hereditary spastic paraplegia 51 MONDO:MONDO:0013401,MedGen:C3151056,OMIM:613744,Orphanet:280763 9 9 1.0000 condition_record_support_limited 20 0 3 Hereditary_spastic_paraplegia_51 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP1S2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 4 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP1S1 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 7 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene AOPEP fancc_related_disorder FANCC-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 8 FANCC-related_disorder 191 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AOPEP mondo_mondo_0030455_medgen_c5562001_omim_619565 Dystonia 31 MONDO:MONDO:0030455,MedGen:C5562001,OMIM:619565 9 9 1.0000 condition_record_support_limited 20 0 1 Dystonia_31 191 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANKH mondo_mondo_0007397_medgen_c1852502_omim_123000_orphanet_1522 Craniometaphyseal dysplasia, autosomal dominant MONDO:MONDO:0007397,MedGen:C1852502,OMIM:123000,Orphanet:1522 9 9 1.0000 condition_record_support_limited 20 0 4 Craniometaphyseal_dysplasia,_autosomal_dominant 14 low_record_burden_interpretation_limited low_record_burden_gene ANK3 mondo_mondo_0014210_medgen_c3809672_omim_615493_orphanet_356996 Intellectual disability-hypotonia-spasticity-sleep disorder syndrome MONDO:MONDO:0014210,MedGen:C3809672,OMIM:615493,Orphanet:356996 9 9 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability-hypotonia-spasticity-sleep_disorder_syndrome 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALX3 mondo_mondo_0007636_medgen_c5574965_omim_136760_orphanet_391474 Frontorhiny MONDO:MONDO:0007636,MedGen:C5574965,OMIM:136760,Orphanet:391474 9 9 1.0000 condition_record_support_limited 20 0 0 Frontorhiny 10 low_record_burden_interpretation_limited low_record_burden_gene ALG12 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 6 not_provided 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH7A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 9 Inborn_genetic_diseases 184 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH18A1 mondo_mondo_0014702_medgen_c5568980_omim_616586_orphanet_447760 Autosomal recessive complex spastic paraplegia type 9B MONDO:MONDO:0014702,MedGen:C5568980,OMIM:616586,Orphanet:447760 9 9 1.0000 condition_record_support_limited 20 0 7 Autosomal_recessive_complex_spastic_paraplegia_type_9B 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALB condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 9 9 1.0000 condition_record_support_limited 20 9 4 not_provided|not_specified 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AK2 human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 9 9 1.0000 condition_record_support_limited 20 0 4 Severe_combined_immunodeficiency_disease 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIFM1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 3 not_provided 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGO2 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 6 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene ADGRG2 mondo_mondo_0010178_medgen_c0403814_omim_277180_orphanet_48 Congenital bilateral aplasia of vas deferens from CFTR mutation MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180,Orphanet:48 9 9 1.0000 condition_record_support_limited 20 0 3 Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation 11 low_record_burden_interpretation_limited low_record_burden_gene ADAMTS18 mondo_mondo_0014195_medgen_c3809567_omim_615458_orphanet_369970 Microcornea-myopic chorioretinal atrophy MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458,Orphanet:369970 9 9 1.0000 condition_record_support_limited 20 0 4 Microcornea-myopic_chorioretinal_atrophy 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTN2 mondo_mondo_0012808_medgen_c2677338_omim_612158_orphanet_154 Dilated cardiomyopathy 1AA MONDO:MONDO:0012808,MedGen:C2677338,OMIM:612158,Orphanet:154 9 9 1.0000 condition_record_support_limited 20 0 3 Dilated_cardiomyopathy_1AA 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTC1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 9 9 1.0000 condition_record_support_limited 20 9 4 not_provided|not_specified 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 mondo_mondo_0009711_medgen_c0546264_orphanet_2020 Congenital myopathy with fiber type disproportion MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020 9 9 1.0000 condition_record_support_limited 20 0 9 Congenital_myopathy_with_fiber_type_disproportion 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACSF3 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 8 not_provided 186 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACOX1 condition_not_provided condition not provided MedGen:C3661900 9 9 1.0000 condition_record_support_limited 20 9 5 not_provided 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACADS acads_related_disorder ACADS-related disorder . 9 9 1.0000 condition_record_support_limited 20 0 6 ACADS-related_disorder 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 9 9 1.0000 condition_record_support_limited 20 0 9 Inborn_genetic_diseases 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ZNFX1 mondo_mondo_0030491_medgen_c5562073_omim_619644 Immunodeficiency 91 and hyperinflammation MONDO:MONDO:0030491,MedGen:C5562073,OMIM:619644 8 8 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_91_and_hyperinflammation 11 low_record_burden_interpretation_limited low_record_burden_gene WNT5A mondo_mondo_0024455_medgen_c4551475_omim_180700_orphanet_3107_orphanet_97360 Autosomal dominant Robinow syndrome 1 MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700,Orphanet:3107,Orphanet:97360 8 8 1.0000 condition_record_support_limited 20 0 3 Autosomal_dominant_Robinow_syndrome_1 11 low_record_burden_interpretation_limited low_record_burden_gene WNT10B condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 3 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WFS1 mondo_mondo_0018105_medgen_c0043207_orphanet_3463 Wolfram syndrome MONDO:MONDO:0018105,MedGen:C0043207,Orphanet:3463 8 8 1.0000 condition_record_support_limited 20 0 7 Wolfram_syndrome 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WFS1 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 8 8 1.0000 condition_record_support_limited 20 0 6 Rare_genetic_deafness 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR81 mondo_mondo_0054794_medgen_c4747885_omim_617967 Hydrocephalus, congenital, 3, with brain anomalies MONDO:MONDO:0054794,MedGen:C4747885,OMIM:617967 8 8 1.0000 condition_record_support_limited 20 0 8 Hydrocephalus,_congenital,_3,_with_brain_anomalies 36 compact_adjacent_exon_block_opportunity local_compact_architecture WDR4 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 3 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene WASF1 mondo_mondo_0032876_medgen_c5231469_omim_618707 Neurodevelopmental disorder with absent language and variable seizures MONDO:MONDO:0032876,MedGen:C5231469,OMIM:618707 8 8 1.0000 condition_record_support_limited 20 0 3 Neurodevelopmental_disorder_with_absent_language_and_variable_seizures 12 low_record_burden_interpretation_limited low_record_burden_gene WAS was_related_disorder WAS-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 5 WAS-related_disorder 206 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VWA1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 8 8 1.0000 condition_record_support_limited 20 8 4 not_provided|not_specified 17 low_record_burden_interpretation_limited low_record_burden_gene VPS16 condition_not_provided condition not provided .|MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 3 See_cases|not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VPS13C mondo_mondo_0017279_medgen_c4275179_orphanet_2828 Young-onset Parkinson disease MONDO:MONDO:0017279,MedGen:C4275179,Orphanet:2828 8 8 1.0000 condition_record_support_limited 20 0 3 Young-onset_Parkinson_disease 88 large_gene_or_donor_burden_stress_case donor_burden_stress VMA21 mondo_mondo_0010684_medgen_c1839615_omim_310440_orphanet_25980 X-linked myopathy with excessive autophagy MONDO:MONDO:0010684,MedGen:C1839615,OMIM:310440,Orphanet:25980 8 8 1.0000 condition_record_support_limited 20 0 1 X-linked_myopathy_with_excessive_autophagy 8 low_record_burden_interpretation_limited low_record_burden_gene VAMP2 mondo_mondo_0032900_medgen_c5231491_omim_618760 Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements MONDO:MONDO:0032900,MedGen:C5231491,OMIM:618760 8 8 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_hypotonia_and_autistic_features_with_or_without_hyperkinetic_movements 14 low_record_burden_interpretation_limited low_record_burden_gene UMOD umod_related_disorder UMOD-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 7 UMOD-related_disorder 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGGT1 mondo_mondo_0980705_medgen_cn380045_omim_621381 Congenital disorder of glycosylation, type IIcc MONDO:MONDO:0980705,MedGen:CN380045,OMIM:621381 8 8 1.0000 condition_record_support_limited 20 0 0 Congenital_disorder_of_glycosylation,_type_IIcc 9 low_record_burden_interpretation_limited low_record_burden_gene TULP3 mondo_mondo_0859254_medgen_c5676996_omim_619902 Hepatorenocardiac degenerative fibrosis MONDO:MONDO:0859254,MedGen:C5676996,OMIM:619902 8 8 1.0000 condition_record_support_limited 20 0 1 Hepatorenocardiac_degenerative_fibrosis 8 low_record_burden_interpretation_limited low_record_burden_gene TUBGCP4 mondo_mondo_0014592_medgen_c4225362_omim_616335 Microcephaly and chorioretinopathy 3 MONDO:MONDO:0014592,MedGen:C4225362,OMIM:616335 8 8 1.0000 condition_record_support_limited 20 0 5 Microcephaly_and_chorioretinopathy_3 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB3 tubb3_related_disorder TUBB3-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 6 TUBB3-related_disorder 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A tuba1a_related_disorder TUBA1A-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 4 TUBA1A-related_disorder 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTN human_phenotype_ontology_hp_0011664_medgen_c4021133 Left ventricular noncompaction cardiomyopathy Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 8 8 1.0000 condition_record_support_limited 20 0 7 Left_ventricular_noncompaction_cardiomyopathy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTC5 mondo_mondo_0030999_medgen_c5543228_omim_619244 Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism MONDO:MONDO:0030999,MedGen:C5543228,OMIM:619244 8 8 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_cerebral_atrophy_and_variable_facial_dysmorphism 9 low_record_burden_interpretation_limited low_record_burden_gene TRPV4 mondo_mondo_0008477_medgen_c0265280_omim_184252_orphanet_93314 Spondylometaphyseal dysplasia, Kozlowski type MONDO:MONDO:0008477,MedGen:C0265280,OMIM:184252,Orphanet:93314 8 8 1.0000 condition_record_support_limited 20 0 8 Spondylometaphyseal_dysplasia,_Kozlowski_type 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 mondo_mondo_0010839_medgen_c1838492_omim_600175_orphanet_1216 Neuronopathy, distal hereditary motor, autosomal dominant 8 MONDO:MONDO:0010839,MedGen:C1838492,OMIM:600175,Orphanet:1216 8 8 1.0000 condition_record_support_limited 20 0 7 Neuronopathy,_distal_hereditary_motor,_autosomal_dominant_8 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 7 Inborn_genetic_diseases 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 4 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene TRPS1 trps1_related_disorder TRPS1-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 4 TRPS1-related_disorder 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIP11 condition_not_provided condition not provided .|MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 4 See_cases|not_provided 87 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRIM8 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 8 8 1.0000 condition_record_support_limited 20 0 8 Neurodevelopmental_delay 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIM8 human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 8 8 1.0000 condition_record_support_limited 20 0 8 Focal_segmental_glomerulosclerosis 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC6B mondo_mondo_0060640_medgen_c4693390_omim_617862 Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy MONDO:MONDO:0060640,MedGen:C4693390,OMIM:617862 8 8 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_microcephaly,_epilepsy,_and_brain_atrophy 11 low_record_burden_interpretation_limited low_record_burden_gene TPO human_phenotype_ontology_hp_0000851_mondo_mondo_0018612_medgen_c0010308_orphanet_442 Congenital hypothyroidism Human_Phenotype_Ontology:HP:0000851,MONDO:MONDO:0018612,MedGen:C0010308,Orphanet:442 8 8 1.0000 condition_record_support_limited 20 0 6 Congenital_hypothyroidism 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM2 mondo_mondo_0012240_medgen_c1836447_omim_609285 Congenital myopathy 23 MONDO:MONDO:0012240,MedGen:C1836447,OMIM:609285 8 8 1.0000 condition_record_support_limited 20 0 7 Congenital_myopathy_23 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM1 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 8 8 1.0000 condition_record_support_limited 20 0 6 Cardiomyopathy 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPI1 mondo_mondo_0014221_medgen_c1860808_omim_615512_orphanet_868 Triosephosphate isomerase deficiency MONDO:MONDO:0014221,MedGen:C1860808,OMIM:615512,Orphanet:868 8 8 1.0000 condition_record_support_limited 20 0 1 Triosephosphate_isomerase_deficiency 11 low_record_burden_interpretation_limited low_record_burden_gene TP63 tp63_related_disorder TP63-related disorder MedGen:CN380159 8 8 1.0000 condition_record_support_limited 20 0 6 TP63-related_disorder 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP53 mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 8 8 1.0000 condition_record_support_limited 20 0 8 Malignant_tumor_of_urinary_bladder 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TOPORS human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 8 8 1.0000 condition_record_support_limited 20 0 7 Retinal_dystrophy 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNXB tnxb_related_disorder TNXB-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 5 TNXB-related_disorder 142 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TNXB mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 Ehlers-Danlos syndrome MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 8 8 1.0000 condition_record_support_limited 20 0 2 Ehlers-Danlos_syndrome 142 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TNNT2 efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 8 8 1.0000 condition_record_support_limited 20 0 8 Primary_dilated_cardiomyopathy 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNI3 mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 Primary familial hypertrophic cardiomyopathy MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 8 8 1.0000 condition_record_support_limited 20 0 8 Primary_familial_hypertrophic_cardiomyopathy 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMX2 mondo_mondo_0032887_medgen_c5231480_omim_618730 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MONDO:MONDO:0032887,MedGen:C5231480,OMIM:618730 8 8 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_microcephaly,_cortical_malformations,_and_spasticity 8 low_record_burden_interpretation_limited low_record_burden_gene TMPRSS3 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 8 8 1.0000 condition_record_support_limited 20 0 7 Hearing_impairment 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM260 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 3 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM231 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 5 not_provided 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM231 mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 8 8 1.0000 condition_record_support_limited 20 0 5 Joubert_syndrome_and_related_disorders 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM216 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 8 not_provided 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM126A condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 2 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene TINF2 mondo_mondo_0007485_medgen_c4551974_omim_127550_orphanet_1775 Dyskeratosis congenita, autosomal dominant 1 MONDO:MONDO:0007485,MedGen:C4551974,OMIM:127550,Orphanet:1775 8 8 1.0000 condition_record_support_limited 20 0 8 Dyskeratosis_congenita,_autosomal_dominant_1 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGM6 mondo_mondo_0013485_medgen_c3888031_omim_613908_orphanet_276193 Spinocerebellar ataxia type 35 MONDO:MONDO:0013485,MedGen:C3888031,OMIM:613908,Orphanet:276193 8 8 1.0000 condition_record_support_limited 20 0 0 Spinocerebellar_ataxia_type_35 10 low_record_burden_interpretation_limited low_record_burden_gene TGM5 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 5 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene TGFBR2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 8 8 1.0000 condition_record_support_limited 20 0 7 Cardiovascular_phenotype 130 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR1 mondo_mondo_0007566_medgen_c0546476_omim_132800_orphanet_65748 Multiple self-healing squamous epithelioma MONDO:MONDO:0007566,MedGen:C0546476,OMIM:132800,Orphanet:65748 8 8 1.0000 condition_record_support_limited 20 0 5 Multiple_self-healing_squamous_epithelioma 108 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERC condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 4 not_provided 49 single_exon_hotspot_opportunity local_compact_architecture TEK human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Abnormal cardiovascular system morphology Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 8 8 1.0000 condition_record_support_limited 20 0 8 Abnormal_cardiovascular_system_morphology 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCTN3 mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 8 8 1.0000 condition_record_support_limited 20 0 7 Joubert_syndrome_and_related_disorders 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCTN1 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 5 not_provided 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF20 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TBX4 human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Pulmonary arterial hypertension Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 8 8 1.0000 condition_record_support_limited 20 0 4 Pulmonary_arterial_hypertension 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX20 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 8 8 1.0000 condition_record_support_limited 20 0 4 Cardiovascular_phenotype 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBR1 human_phenotype_ontology_hp_0011344_medgen_c1837397 Severe global developmental delay Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 8 8 1.0000 condition_record_support_limited 20 0 8 Severe_global_developmental_delay 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBL1XR1 tbl1xr1_related_disorder TBL1XR1-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 5 TBL1XR1-related_disorder 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D24 mondo_mondo_0011970_medgen_c1842531_omim_608105_orphanet_163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome MONDO:MONDO:0011970,MedGen:C1842531,OMIM:608105,Orphanet:163727 8 8 1.0000 condition_record_support_limited 20 0 6 Rolandic_epilepsy-paroxysmal_exercise-induced_dystonia-writer's_cramp_syndrome 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYP mondo_mondo_0010429_medgen_c3275408_omim_300802_orphanet_777 Intellectual disability, X-linked 96 MONDO:MONDO:0010429,MedGen:C3275408,OMIM:300802,Orphanet:777 8 8 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_X-linked_96 11 low_record_burden_interpretation_limited low_record_burden_gene SYN1 mondo_mondo_0010251_medgen_c1848087_omim_300115_orphanet_777 Intellectual disability, X-linked 50 MONDO:MONDO:0010251,MedGen:C1848087,OMIM:300115,Orphanet:777 8 8 1.0000 condition_record_support_limited 20 0 5 Intellectual_disability,_X-linked_50 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUCLA2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 3 not_provided 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 8 8 1.0000 condition_record_support_limited 20 0 4 Epileptic_encephalopathy 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STK11 mondo_mondo_0015278_medgen_c2931038_omim_260350_orphanet_1333 Familial pancreatic carcinoma MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333 8 8 1.0000 condition_record_support_limited 20 0 8 Familial_pancreatic_carcinoma 395 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ST14 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 0 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene SQSTM1 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 6 not_provided 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPTLC1 mondo_mondo_0008086_medgen_c5235211_omim_162400 Neuropathy, hereditary sensory and autonomic, type 1A MONDO:MONDO:0008086,MedGen:C5235211,OMIM:162400 8 8 1.0000 condition_record_support_limited 20 0 7 Neuropathy,_hereditary_sensory_and_autonomic,_type_1A 14 low_record_burden_interpretation_limited low_record_burden_gene SPTLC1 mondo_mondo_0018213_medgen_c0020071_orphanet_36386 Hereditary sensory and autonomic neuropathy type 1 MONDO:MONDO:0018213,MedGen:C0020071,Orphanet:36386 8 8 1.0000 condition_record_support_limited 20 0 5 Hereditary_sensory_and_autonomic_neuropathy_type_1 14 low_record_burden_interpretation_limited low_record_burden_gene SPEF2 mondo_mondo_0032898_medgen_c5231490_omim_618751 Spermatogenic failure 43 MONDO:MONDO:0032898,MedGen:C5231490,OMIM:618751 8 8 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_43 12 low_record_burden_interpretation_limited low_record_burden_gene SPAST mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 615 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX9 sox9_related_disorder SOX9-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 2 SOX9-related_disorder 134 compact_adjacent_exon_block_opportunity local_compact_architecture SORD mondo_mondo_0030055_medgen_c5394466_omim_618912_orphanet_700508 Neuronopathy, distal hereditary motor, autosomal recessive 8 MONDO:MONDO:0030055,MedGen:C5394466,OMIM:618912,Orphanet:700508 8 8 1.0000 condition_record_support_limited 20 0 3 Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_8 11 low_record_burden_interpretation_limited low_record_burden_gene SOD1 mondo_mondo_0032828_medgen_c5231422_omim_618598 Spastic tetraplegia and axial hypotonia, progressive MONDO:MONDO:0032828,MedGen:C5231422,OMIM:618598 8 8 1.0000 condition_record_support_limited 20 0 6 Spastic_tetraplegia_and_axial_hypotonia,_progressive 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOCS1 mondo_mondo_0800130_medgen_c5543547_omim_619375 Autoinflammatory syndrome with immunodeficiency MONDO:MONDO:0800130,MedGen:C5543547,OMIM:619375 8 8 1.0000 condition_record_support_limited 20 0 5 Autoinflammatory_syndrome_with_immunodeficiency 13 low_record_burden_interpretation_limited low_record_burden_gene SNRNP200 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 7 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene SNORD118 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 6 not_provided 28 single_exon_hotspot_opportunity local_compact_architecture SNAPC4 mondo_mondo_0957791_medgen_c5882695_omim_620515 Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction MONDO:MONDO:0957791,MedGen:C5882695,OMIM:620515 8 8 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_motor_regression,_progressive_spastic_paraplegia,_and_oromotor_dysfunction 11 low_record_burden_interpretation_limited low_record_burden_gene SMO mondo_mondo_0009436_medgen_c5435677_omim_241800 Congenital hypothalamic hamartoma syndrome MONDO:MONDO:0009436,MedGen:C5435677,OMIM:241800 8 8 1.0000 condition_record_support_limited 20 0 0 Congenital_hypothalamic_hamartoma_syndrome 11 low_record_burden_interpretation_limited low_record_burden_gene SMAD2 mondo_mondo_0030500_medgen_c5562041_omim_619656 Loeys-Dietz syndrome 6 MONDO:MONDO:0030500,MedGen:C5562041,OMIM:619656 8 8 1.0000 condition_record_support_limited 20 0 3 Loeys-Dietz_syndrome_6 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLCO2A1 mondo_mondo_0008172_medgen_c2674695_omim_167100_orphanet_2796 Hypertrophic osteoarthropathy, primary, autosomal dominant MONDO:MONDO:0008172,MedGen:C2674695,OMIM:167100,Orphanet:2796 8 8 1.0000 condition_record_support_limited 20 0 7 Hypertrophic_osteoarthropathy,_primary,_autosomal_dominant 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A3 mondo_mondo_0013150_medgen_c2751067_omim_ps613135_orphanet_238455 Parkinsonism-dystonia, infantile MONDO:MONDO:0013150,MedGen:C2751067,OMIM:PS613135,Orphanet:238455 8 8 1.0000 condition_record_support_limited 20 0 2 Parkinsonism-dystonia,_infantile 18 low_record_burden_interpretation_limited low_record_burden_gene SLC6A3 mondo_mondo_0054835_medgen_c5700336_omim_613135_orphanet_238455 Classic dopamine transporter deficiency syndrome MONDO:MONDO:0054835,MedGen:C5700336,OMIM:613135,Orphanet:238455 8 8 1.0000 condition_record_support_limited 20 0 2 Classic_dopamine_transporter_deficiency_syndrome 18 low_record_burden_interpretation_limited low_record_burden_gene SLC6A1 slc6a1_related_disorder SLC6A1-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 6 SLC6A1-related_disorder 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A9 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 2 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene SLC2A1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 8 8 1.0000 condition_record_support_limited 20 0 7 Intellectual_disability 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A1 mondo_mondo_0000188_medgen_c1847501_omim_ps606777 GLUT1 deficiency syndrome MONDO:MONDO:0000188,MedGen:C1847501,OMIM:PS606777 8 8 1.0000 condition_record_support_limited 20 0 5 GLUT1_deficiency_syndrome 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A4 mondo_mondo_0014175_medgen_c3809443_omim_615418_orphanet_1369 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418,Orphanet:1369 8 8 1.0000 condition_record_support_limited 20 0 3 Mitochondrial_DNA_depletion_syndrome_12B_(cardiomyopathic_type),_autosomal_recessive 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A15 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 6 not_provided 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC24A5 mondo_mondo_0018264_medgen_c3805375_omim_113750_orphanet_370097 Oculocutaneous albinism type 6 MONDO:MONDO:0018264,MedGen:C3805375,OMIM:113750,Orphanet:370097 8 8 1.0000 condition_record_support_limited 20 0 3 Oculocutaneous_albinism_type_6 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC22A5 slc22a5_related_disorder SLC22A5-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 8 SLC22A5-related_disorder 285 compact_adjacent_exon_block_opportunity local_compact_architecture SLC20A2 slc20a2_related_disorder SLC20A2-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 6 SLC20A2-related_disorder 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC1A2 mondo_mondo_0014916_medgen_c4310717_omim_617105 Developmental and epileptic encephalopathy, 41 MONDO:MONDO:0014916,MedGen:C4310717,OMIM:617105 8 8 1.0000 condition_record_support_limited 20 0 2 Developmental_and_epileptic_encephalopathy,_41 10 low_record_burden_interpretation_limited low_record_burden_gene SLC16A2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 112 compact_adjacent_exon_block_opportunity local_compact_architecture SLC12A1 mondo_mondo_0015231_medgen_c0004775_omim_ps601678_orphanet_112 Bartter syndrome MONDO:MONDO:0015231,MedGen:C0004775,OMIM:PS601678,Orphanet:112 8 8 1.0000 condition_record_support_limited 20 0 5 Bartter_syndrome 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SKI condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 5 not_provided 32 compact_adjacent_exon_block_opportunity local_compact_architecture SI si_related_disorder SI-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 4 SI-related_disorder 162 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SHOX mondo_mondo_0010367_medgen_c1845118_omim_300582_orphanet_314795 SHOX-related short stature MONDO:MONDO:0010367,MedGen:C1845118,OMIM:300582,Orphanet:314795 8 8 1.0000 condition_record_support_limited 20 0 3 SHOX-related_short_stature 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SHOC1 mondo_mondo_0030984_medgen_c5677014_omim_619949 Spermatogenic failure 75 MONDO:MONDO:0030984,MedGen:C5677014,OMIM:619949 8 8 1.0000 condition_record_support_limited 20 0 1 Spermatogenic_failure_75 13 low_record_burden_interpretation_limited low_record_burden_gene SFTPC mondo_mondo_0012580_medgen_c3711368_omim_ps265120_orphanet_264675 Hereditary pulmonary alveolar proteinosis MONDO:MONDO:0012580,MedGen:C3711368,OMIM:PS265120,Orphanet:264675 8 8 1.0000 condition_record_support_limited 20 0 2 Hereditary_pulmonary_alveolar_proteinosis 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SFTPB condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 4 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene SFRP4 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 0 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene SF3B2 mondo_mondo_0958175_medgen_c3495417_omim_164210_orphanet_374 Craniofacial microsomia 1 MONDO:MONDO:0958175,MedGen:C3495417,OMIM:164210,Orphanet:374 8 8 1.0000 condition_record_support_limited 20 0 0 Craniofacial_microsomia_1 9 low_record_burden_interpretation_limited low_record_burden_gene SETX mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD1A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SERPINF1 mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 Osteogenesis imperfecta MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 8 8 1.0000 condition_record_support_limited 20 0 4 Osteogenesis_imperfecta 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SELENON mondo_mondo_0009711_medgen_c0546264_orphanet_2020 Congenital myopathy with fiber type disproportion MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020 8 8 1.0000 condition_record_support_limited 20 0 8 Congenital_myopathy_with_fiber_type_disproportion 112 compact_adjacent_exon_block_opportunity local_compact_architecture SECISBP2 mondo_mondo_0800046_medgen_c5676891_omim_609698_orphanet_171706 Thyroid hormone metabolism, abnormal 1 MONDO:MONDO:0800046,MedGen:C5676891,OMIM:609698,Orphanet:171706 8 8 1.0000 condition_record_support_limited 20 0 0 Thyroid_hormone_metabolism,_abnormal_1 13 low_record_burden_interpretation_limited low_record_burden_gene SCYL2 mondo_mondo_0032903_medgen_c5231494_omim_618766 Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum MONDO:MONDO:0032903,MedGen:C5231494,OMIM:618766 8 8 1.0000 condition_record_support_limited 20 0 0 Arthrogryposis_multiplex_congenita_4,_neurogenic,_with_agenesis_of_the_corpus_callosum 9 low_record_burden_interpretation_limited low_record_burden_gene SCN2A human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 8 8 1.0000 condition_record_support_limited 20 0 6 Epileptic_encephalopathy 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SBF1 mondo_mondo_0014117_medgen_c3695063_omim_615284_orphanet_363981 Charcot-Marie-Tooth disease type 4B3 MONDO:MONDO:0014117,MedGen:C3695063,OMIM:615284,Orphanet:363981 8 8 1.0000 condition_record_support_limited 20 0 3 Charcot-Marie-Tooth_disease_type_4B3 37 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SBDS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 48 compact_adjacent_exon_block_opportunity local_compact_architecture SATB1 mondo_mondo_0030990_medgen_c5543202_omim_619229 Kohlschutter-Tonz syndrome-like MONDO:MONDO:0030990,MedGen:C5543202,OMIM:619229 8 8 1.0000 condition_record_support_limited 20 0 4 Kohlschutter-Tonz_syndrome-like 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SART3 intellectual_disability_neurodevelopmental_defects_and_developmental_delay_with_46_xy_gonadal_dysgenesis Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis . 8 8 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_Neurodevelopmental_defects_and_Developmental_delay_with_46,XY_gonadal_dysgenesis 8 low_record_burden_interpretation_limited low_record_burden_gene RYR2 mondo_mondo_0020745_medgen_c5542154_omim_115000 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome MONDO:MONDO:0020745,MedGen:C5542154,OMIM:115000 8 8 1.0000 condition_record_support_limited 20 0 5 Ventricular_arrhythmias_due_to_cardiac_ryanodine_receptor_calcium_release_deficiency_syndrome 254 large_gene_or_donor_burden_stress_case donor_burden_stress RYR2 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 8 8 1.0000 condition_record_support_limited 20 0 7 Cardiomyopathy 254 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 8 8 1.0000 condition_record_support_limited 20 0 7 Arthrogryposis_multiplex_congenita 770 large_gene_or_donor_burden_stress_case donor_burden_stress RSRC1 mondo_mondo_0032729_medgen_c5193077_omim_618402 Intellectual developmental disorder, autosomal recessive 70 MONDO:MONDO:0032729,MedGen:C5193077,OMIM:618402 8 8 1.0000 condition_record_support_limited 20 0 3 Intellectual_developmental_disorder,_autosomal_recessive_70 11 low_record_burden_interpretation_limited low_record_burden_gene RSPH4A condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 7 not_provided 57 compact_adjacent_exon_block_opportunity local_compact_architecture RPS24 mondo_mondo_0012529_medgen_c1857719_omim_610629_orphanet_124 Diamond-Blackfan anemia 3 MONDO:MONDO:0012529,MedGen:C1857719,OMIM:610629,Orphanet:124 8 8 1.0000 condition_record_support_limited 20 0 1 Diamond-Blackfan_anemia_3 17 low_record_burden_interpretation_limited low_record_burden_gene RPS24 human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Diamond-Blackfan anemia Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 8 8 1.0000 condition_record_support_limited 20 0 2 Diamond-Blackfan_anemia 17 low_record_burden_interpretation_limited low_record_burden_gene RPL13 mondo_mondo_0032885_medgen_c5231478_omim_618728 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type MONDO:MONDO:0032885,MedGen:C5231478,OMIM:618728 8 8 1.0000 condition_record_support_limited 20 0 3 Spondyloepimetaphyseal_dysplasia,_Isidor-Toutain_type 10 low_record_burden_interpretation_limited low_record_burden_gene RPIA mondo_mondo_0012073_medgen_c1291609_omim_608611_orphanet_440706 Deficiency of ribose-5-phosphate isomerase MONDO:MONDO:0012073,MedGen:C1291609,OMIM:608611,Orphanet:440706 8 8 1.0000 condition_record_support_limited 20 0 2 Deficiency_of_ribose-5-phosphate_isomerase 10 low_record_burden_interpretation_limited low_record_burden_gene RPGR mondo_mondo_0021155_medgen_cn323387 X-linked cone-rod dystrophy MONDO:MONDO:0021155,MedGen:CN323387 8 8 1.0000 condition_record_support_limited 20 0 6 X-linked_cone-rod_dystrophy 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 8 8 1.0000 condition_record_support_limited 20 0 8 Autosomal_recessive_retinitis_pigmentosa 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ROBO4 human_phenotype_ontology_hp_0001647_medgen_c0149630 Bicuspid aortic valve Human_Phenotype_Ontology:HP:0001647,MedGen:C0149630 8 8 1.0000 condition_record_support_limited 20 0 8 Bicuspid_aortic_valve 15 low_record_burden_interpretation_limited low_record_burden_gene ROBO4 human_phenotype_ontology_hp_0004970_medgen_c0856747 Ascending tubular aorta aneurysm Human_Phenotype_Ontology:HP:0004970,MedGen:C0856747 8 8 1.0000 condition_record_support_limited 20 0 8 Ascending_tubular_aorta_aneurysm 15 low_record_burden_interpretation_limited low_record_burden_gene RNF213 condition_not_provided condition not provided .|MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 1 See_cases|not_provided 22 large_gene_or_donor_burden_stress_case donor_burden_stress RIF1 neb_related_disorder NEB-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 6 NEB-related_disorder 500 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RHAG medgen_c1849387_omim_268150 Rh-null, regulator type MedGen:C1849387,OMIM:268150 8 8 1.0000 condition_record_support_limited 20 0 3 Rh-null,_regulator_type 18 low_record_burden_interpretation_limited low_record_burden_gene RETREG1 mondo_mondo_0013142_medgen_c2751092_omim_613115_orphanet_970 Neuropathy, hereditary sensory and autonomic, type 2B MONDO:MONDO:0013142,MedGen:C2751092,OMIM:613115,Orphanet:970 8 8 1.0000 condition_record_support_limited 20 0 5 Neuropathy,_hereditary_sensory_and_autonomic,_type_2B 25 compact_adjacent_exon_block_opportunity local_compact_architecture RET men2_phenotype_unclassified MEN2 phenotype: Unclassified MedGen:CN311636 8 8 1.0000 condition_record_support_limited 20 0 8 MEN2_phenotype:_Unclassified 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RERE mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RECQL4 mondo_mondo_0010002_medgen_c0032339_omim_ps268400_orphanet_2909 Rothmund-Thomson syndrome MONDO:MONDO:0010002,MedGen:C0032339,OMIM:PS268400,Orphanet:2909 8 8 1.0000 condition_record_support_limited 20 0 6 Rothmund-Thomson_syndrome 385 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RECQL4 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 8 8 1.0000 condition_record_support_limited 20 0 7 Hereditary_cancer-predisposing_syndrome 385 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RDX condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 1 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBCK1 medgen_c4017232 Polyglucosan body myopathy 1 without immunodeficiency MedGen:C4017232 8 8 1.0000 condition_record_support_limited 20 0 7 Polyglucosan_body_myopathy_1_without_immunodeficiency 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RB1 human_phenotype_ontology_hp_0030357_mondo_mondo_0008433_mesh_d055752_medgen_c0149925_omim_182280_orphanet_70573 Small cell lung carcinoma Human_Phenotype_Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573 8 8 1.0000 condition_record_support_limited 20 0 8 Small_cell_lung_carcinoma 947 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAX mondo_mondo_0012604_medgen_c5774181_omim_611038_orphanet_2542 Isolated microphthalmia 3 MONDO:MONDO:0012604,MedGen:C5774181,OMIM:611038,Orphanet:2542 8 8 1.0000 condition_record_support_limited 20 0 0 Isolated_microphthalmia_3 11 low_record_burden_interpretation_limited low_record_burden_gene RASA1 mondo_mondo_0011556_medgen_c2751544_omim_605462 Basal cell carcinoma, susceptibility to, 1 MONDO:MONDO:0011556,MedGen:C2751544,OMIM:605462 8 8 1.0000 condition_record_support_limited 20 0 7 Basal_cell_carcinoma,_susceptibility_to,_1 285 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAF1 mondo_mondo_0012691_medgen_c1969056_omim_611554_orphanet_500 LEOPARD syndrome 2 MONDO:MONDO:0012691,MedGen:C1969056,OMIM:611554,Orphanet:500 8 8 1.0000 condition_record_support_limited 20 0 7 LEOPARD_syndrome_2 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD51D human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Ovarian neoplasm Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 8 8 1.0000 condition_record_support_limited 20 0 7 Ovarian_neoplasm 245 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51D mondo_mondo_0016248_medgen_c5679802 Familial ovarian cancer MONDO:MONDO:0016248,MedGen:C5679802 8 8 1.0000 condition_record_support_limited 20 0 6 Familial_ovarian_cancer 245 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51D breast_and_or_ovarian_cancer Breast and/or ovarian cancer MedGen:CN221562 8 8 1.0000 condition_record_support_limited 20 0 8 Breast_and/or_ovarian_cancer 245 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51C mondo_mondo_0016248_medgen_c5679802 Familial ovarian cancer MONDO:MONDO:0016248,MedGen:C5679802 8 8 1.0000 condition_record_support_limited 20 0 8 Familial_ovarian_cancer 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD50 rad50_related_disorder RAD50-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 8 RAD50-related_disorder 483 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUS3 mondo_mondo_0014886_medgen_c4310745_omim_617051_orphanet_488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome MONDO:MONDO:0014886,MedGen:C4310745,OMIM:617051,Orphanet:488627 8 8 1.0000 condition_record_support_limited 20 0 1 Severe_growth_deficiency-strabismus-extensive_dermal_melanocytosis-intellectual_disability_syndrome 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUS3 mondo_mondo_0009365_medgen_c1856016_omim_236680_orphanet_2189 Hydrolethalus syndrome 1 MONDO:MONDO:0009365,MedGen:C1856016,OMIM:236680,Orphanet:2189 8 8 1.0000 condition_record_support_limited 20 0 3 Hydrolethalus_syndrome_1 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUM1 mondo_mondo_0033482_medgen_c4693672_omim_620719_orphanet_642747 Spinocerebellar ataxia 47 MONDO:MONDO:0033482,MedGen:C4693672,OMIM:620719,Orphanet:642747 8 8 1.0000 condition_record_support_limited 20 0 2 Spinocerebellar_ataxia_47 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUF60 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPRC mondo_mondo_0800104_medgen_c5677005_omim_619924 Immunodeficiency 105 MONDO:MONDO:0800104,MedGen:C5677005,OMIM:619924 8 8 1.0000 condition_record_support_limited 20 0 3 Immunodeficiency_105 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTH1R condition_not_provided condition not provided .|MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 5 See_cases|not_provided 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTCHD1 mondo_mondo_0010440_medgen_c0795888_omim_300830 Autism, susceptibility to, X-linked 4 MONDO:MONDO:0010440,MedGen:C0795888,OMIM:300830 8 8 1.0000 condition_record_support_limited 20 0 0 Autism,_susceptibility_to,_X-linked_4 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTCD3 mondo_mondo_0033631_medgen_c5436703_omim_619057 Combined oxidative phosphorylation deficiency 51 MONDO:MONDO:0033631,MedGen:C5436703,OMIM:619057 8 8 1.0000 condition_record_support_limited 20 0 1 Combined_oxidative_phosphorylation_deficiency_51 10 low_record_burden_interpretation_limited low_record_burden_gene PSAT1 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 8 not_provided 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 5 not_provided 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPS1 mondo_mondo_0010699_medgen_c1839566_omim_311070_orphanet_99014 Charcot-Marie-Tooth disease X-linked recessive 5 MONDO:MONDO:0010699,MedGen:C1839566,OMIM:311070,Orphanet:99014 8 8 1.0000 condition_record_support_limited 20 0 3 Charcot-Marie-Tooth_disease_X-linked_recessive_5 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPF3 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 4 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene PROM1 mondo_mondo_0011370_medgen_c1863534_omim_603786_orphanet_827 Stargardt disease 4 MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786,Orphanet:827 8 8 1.0000 condition_record_support_limited 20 0 7 Stargardt_disease_4 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROM1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 8 8 1.0000 condition_record_support_limited 20 0 8 Retinitis_pigmentosa 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROM1 prom1_related_disorder PROM1-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 7 PROM1-related_disorder 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRODH mondo_mondo_0010943_medgen_c1833247_omim_600850 Schizophrenia 4 MONDO:MONDO:0010943,MedGen:C1833247,OMIM:600850 8 8 1.0000 condition_record_support_limited 20 0 8 Schizophrenia_4 19 low_record_burden_interpretation_limited low_record_burden_gene PRDM16 mondo_mondo_0014152_medgen_c3809288_omim_615373_orphanet_154_orphanet_54260 Left ventricular noncompaction 8 MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260 8 8 1.0000 condition_record_support_limited 20 0 4 Left_ventricular_noncompaction_8 16 low_record_burden_interpretation_limited low_record_burden_gene PPT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 8 Inborn_genetic_diseases 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP1R13L mondo_mondo_0957795_medgen_c5882696_omim_620519 Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities MONDO:MONDO:0957795,MedGen:C5882696,OMIM:620519 8 8 1.0000 condition_record_support_limited 20 0 6 Arrhythmogenic_cardiomyopathy_with_variable_ectodermal_abnormalities 12 low_record_burden_interpretation_limited low_record_burden_gene PPFIBP1 mondo_mondo_0859283_medgen_c5774209_omim_620024 Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities MONDO:MONDO:0859283,MedGen:C5774209,OMIM:620024 8 8 1.0000 condition_record_support_limited 20 0 6 Neurodevelopmental_disorder_with_seizures,_microcephaly,_and_brain_abnormalities 12 low_record_burden_interpretation_limited low_record_burden_gene POLGARF mondo_mondo_0009783_medgen_c4225153_omim_258450_orphanet_254886 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450,Orphanet:254886 8 8 1.0000 condition_record_support_limited 20 0 7 Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1 61 compact_adjacent_exon_block_opportunity local_compact_architecture PNPT1 mondo_mondo_0013978_medgen_c1824925_omim_614934_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 70 MONDO:MONDO:0013978,MedGen:C1824925,OMIM:614934,Orphanet:90636 8 8 1.0000 condition_record_support_limited 20 0 6 Autosomal_recessive_nonsyndromic_hearing_loss_70 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNP human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 8 8 1.0000 condition_record_support_limited 20 0 8 Severe_combined_immunodeficiency_disease 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMPCB mondo_mondo_0054785_medgen_c4693741_omim_617954_orphanet_569290 Multiple mitochondrial dysfunctions syndrome 6 MONDO:MONDO:0054785,MedGen:C4693741,OMIM:617954,Orphanet:569290 8 8 1.0000 condition_record_support_limited 20 0 1 Multiple_mitochondrial_dysfunctions_syndrome_6 9 low_record_burden_interpretation_limited low_record_burden_gene PLXNB2 condition_not_provided condition not provided . 8 8 1.0000 condition_record_support_limited 20 8 0 See_cases 8 low_record_burden_interpretation_limited low_record_burden_gene PLOD3 mondo_mondo_0012892_medgen_c2676285_omim_612394_orphanet_300284 Bone fragility with contractures, arterial rupture, and deafness MONDO:MONDO:0012892,MedGen:C2676285,OMIM:612394,Orphanet:300284 8 8 1.0000 condition_record_support_limited 20 0 2 Bone_fragility_with_contractures,_arterial_rupture,_and_deafness 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKP1 mondo_mondo_0011472_medgen_c1858302_omim_604536_orphanet_158668 Epidermolysis bullosa simplex due to plakophilin deficiency MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536,Orphanet:158668 8 8 1.0000 condition_record_support_limited 20 0 0 Epidermolysis_bullosa_simplex_due_to_plakophilin_deficiency 9 low_record_burden_interpretation_limited low_record_burden_gene PINK1 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 6 not_provided 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3R2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 3 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene PIK3R2 mondo_mondo_0011313_medgen_c4012727_omim_603387_orphanet_83473 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 MONDO:MONDO:0011313,MedGen:C4012727,OMIM:603387,Orphanet:83473 8 8 1.0000 condition_record_support_limited 20 0 2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_1 16 low_record_burden_interpretation_limited low_record_burden_gene PHKA2 mondo_mondo_0100439_medgen_c2748941 Glycogen storage disease IXa2 MONDO:MONDO:0100439,MedGen:C2748941 8 8 1.0000 condition_record_support_limited 20 0 6 Glycogen_storage_disease_IXa2 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHEX hypophosphataemia_or_rickets Hypophosphataemia or rickets . 8 8 1.0000 condition_record_support_limited 20 0 3 Hypophosphataemia_or_rickets 842 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PGM3 human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 8 8 1.0000 condition_record_support_limited 20 0 5 Severe_combined_immunodeficiency_disease 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX3 mondo_mondo_0013948_medgen_c3553999_omim_614882_orphanet_912 Peroxisome biogenesis disorder 10A (Zellweger) MONDO:MONDO:0013948,MedGen:C3553999,OMIM:614882,Orphanet:912 8 8 1.0000 condition_record_support_limited 20 0 4 Peroxisome_biogenesis_disorder_10A_(Zellweger) 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX26 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 6 not_provided 63 compact_adjacent_exon_block_opportunity local_compact_architecture PEX26 mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 Peroxisome biogenesis disorder MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 8 8 1.0000 condition_record_support_limited 20 0 7 Peroxisome_biogenesis_disorder 63 compact_adjacent_exon_block_opportunity local_compact_architecture PDGFRB mondo_mondo_0014704_medgen_c4225270_omim_616592_orphanet_477831 Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592,Orphanet:477831 8 8 1.0000 condition_record_support_limited 20 0 6 Skeletal_overgrowth-craniofacial_dysmorphism-hyperelastic_skin-white_matter_lesions_syndrome 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6D mondo_mondo_0014297_medgen_c3810278_omim_615665_orphanet_2754 Joubert syndrome 22 MONDO:MONDO:0014297,MedGen:C3810278,OMIM:615665,Orphanet:2754 8 8 1.0000 condition_record_support_limited 20 0 0 Joubert_syndrome_22 8 low_record_burden_interpretation_limited low_record_burden_gene PDE6B mondo_mondo_0008099_medgen_c1876182_omim_163500_orphanet_215 Congenital stationary night blindness autosomal dominant 2 MONDO:MONDO:0008099,MedGen:C1876182,OMIM:163500,Orphanet:215 8 8 1.0000 condition_record_support_limited 20 0 7 Congenital_stationary_night_blindness_autosomal_dominant_2 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE3A mondo_mondo_0007211_medgen_c1862170_omim_112410_orphanet_1276 Brachydactyly-arterial hypertension syndrome MONDO:MONDO:0007211,MedGen:C1862170,OMIM:112410,Orphanet:1276 8 8 1.0000 condition_record_support_limited 20 0 3 Brachydactyly-arterial_hypertension_syndrome 9 low_record_burden_interpretation_limited low_record_burden_gene PDE11A mondo_mondo_0012505_medgen_c1864851_omim_610475_orphanet_189439 Pigmented nodular adrenocortical disease, primary, 2 MONDO:MONDO:0012505,MedGen:C1864851,OMIM:610475,Orphanet:189439 8 8 1.0000 condition_record_support_limited 20 0 0 Pigmented_nodular_adrenocortical_disease,_primary,_2 10 low_record_burden_interpretation_limited low_record_burden_gene PDE10A mondo_mondo_0044637_medgen_c5567464_omim_616921_orphanet_494526 Infantile-onset generalized dyskinesia with orofacial involvement MONDO:MONDO:0044637,MedGen:C5567464,OMIM:616921,Orphanet:494526 8 8 1.0000 condition_record_support_limited 20 0 3 Infantile-onset_generalized_dyskinesia_with_orofacial_involvement 11 low_record_burden_interpretation_limited low_record_burden_gene PCSK1 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 4 not_provided 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX3 mondo_mondo_0018094_medgen_c3266898_omim_ps193500_orphanet_3440 Waardenburg syndrome MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500,Orphanet:3440 8 8 1.0000 condition_record_support_limited 20 0 6 Waardenburg_syndrome 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PANK2 mondo_mondo_0011798_medgen_c1846582 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration MONDO:MONDO:0011798,MedGen:C1846582 8 8 1.0000 condition_record_support_limited 20 0 7 Hypoprebetalipoproteinemia,_acanthocytosis,_retinitis_pigmentosa,_and_pallidal_degeneration 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PALB2 medgen_c3469522 Breast cancer, susceptibility to MedGen:C3469522 8 8 1.0000 condition_record_support_limited 20 0 8 Breast_cancer,_susceptibility_to 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PAK1 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 7 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAFAH1B1 human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Lissencephaly Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 8 8 1.0000 condition_record_support_limited 20 0 3 Lissencephaly 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PABPN1 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 5 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene PABPN1 mondo_mondo_0958176_medgen_cn376802_omim_164300 Oculopharyngeal muscular dystrophy 1 MONDO:MONDO:0958176,MedGen:CN376802,OMIM:164300 8 8 1.0000 condition_record_support_limited 20 0 4 Oculopharyngeal_muscular_dystrophy_1 12 low_record_burden_interpretation_limited low_record_burden_gene PABPC1L mondo_mondo_0976137_medgen_c5975626_omim_621093 Oocyte/zygote/embryo maturation arrest 22 MONDO:MONDO:0976137,MedGen:C5975626,OMIM:621093 8 8 1.0000 condition_record_support_limited 20 0 0 Oocyte/zygote/embryo_maturation_arrest_22 10 low_record_burden_interpretation_limited low_record_burden_gene OTOG otog_related_disorder OTOG-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 4 OTOG-related_disorder 130 large_gene_or_donor_burden_stress_case donor_burden_stress OTOF medgen_c2732267 Auditory neuropathy spectrum disorder MedGen:C2732267 8 8 1.0000 condition_record_support_limited 20 0 4 Auditory_neuropathy_spectrum_disorder 355 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture OTOA medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 8 8 1.0000 condition_record_support_limited 20 0 5 Rare_genetic_deafness 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OSTM1 mondo_mondo_0009817_medgen_c1968603_omim_259720_orphanet_85179 Autosomal recessive osteopetrosis 5 MONDO:MONDO:0009817,MedGen:C1968603,OMIM:259720,Orphanet:85179 8 8 1.0000 condition_record_support_limited 20 0 3 Autosomal_recessive_osteopetrosis_5 27 compact_adjacent_exon_block_opportunity local_compact_architecture ORC6 mondo_mondo_0013430_medgen_c3151113_omim_613803_orphanet_2554 Meier-Gorlin syndrome 3 MONDO:MONDO:0013430,MedGen:C3151113,OMIM:613803,Orphanet:2554 8 8 1.0000 condition_record_support_limited 20 0 1 Meier-Gorlin_syndrome_3 17 low_record_burden_interpretation_limited low_record_burden_gene OPTN optn_related_disorder OPTN-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 4 OPTN-related_disorder 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OGDHL mondo_mondo_0859221_medgen_c5562066_omim_619701 Yoon-Bellen neurodevelopmental syndrome MONDO:MONDO:0859221,MedGen:C5562066,OMIM:619701 8 8 1.0000 condition_record_support_limited 20 0 1 Yoon-Bellen_neurodevelopmental_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene OFD1 mondo_mondo_0010320_medgen_c1419610_omim_300424_orphanet_791 Retinitis pigmentosa 23 MONDO:MONDO:0010320,MedGen:C1419610,OMIM:300424,Orphanet:791 8 8 1.0000 condition_record_support_limited 20 0 8 Retinitis_pigmentosa_23 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ODC1 mondo_mondo_0033642_medgen_c5436741_omim_619075_orphanet_544488 Neurodevelopmental disorder with alopecia and brain abnormalities MONDO:MONDO:0033642,MedGen:C5436741,OMIM:619075,Orphanet:544488 8 8 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_alopecia_and_brain_abnormalities 10 low_record_burden_interpretation_limited low_record_burden_gene ODAD2 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 8 8 1.0000 condition_record_support_limited 20 0 5 Primary_ciliary_dyskinesia 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OCA2 nonsyndromic_oculocutaneous_albinism Nonsyndromic Oculocutaneous Albinism . 8 8 1.0000 condition_record_support_limited 20 0 3 Nonsyndromic_Oculocutaneous_Albinism 309 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OAT condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 8 not_provided 150 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NTRK2 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 1 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene NT5C3A condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 3 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene NSD2 mondo_mondo_0008684_medgen_c1956097_omim_194190_orphanet_280 4p partial monosomy syndrome MONDO:MONDO:0008684,MedGen:C1956097,OMIM:194190,Orphanet:280 8 8 1.0000 condition_record_support_limited 20 0 4 4p_partial_monosomy_syndrome 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRL human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 8 8 1.0000 condition_record_support_limited 20 0 6 Retinal_dystrophy 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPC2 mondo_mondo_0018982_medgen_c0220756_orphanet_646 Niemann-Pick disease, type C MONDO:MONDO:0018982,MedGen:C0220756,Orphanet:646 8 8 1.0000 condition_record_support_limited 20 0 8 Niemann-Pick_disease,_type_C 59 compact_adjacent_exon_block_opportunity local_compact_architecture NOTCH1 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 8 8 1.0000 condition_record_support_limited 20 0 3 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 163 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NLRP5 mondo_mondo_0957231_medgen_c5830442_omim_620333 Oocyte/zygote/embryo maturation arrest 19 MONDO:MONDO:0957231,MedGen:C5830442,OMIM:620333 8 8 1.0000 condition_record_support_limited 20 0 2 Oocyte/zygote/embryo_maturation_arrest_19 12 low_record_burden_interpretation_limited low_record_burden_gene NLRP12 mondo_mondo_0012724_medgen_c2673198_omim_611762_orphanet_247868 Familial cold autoinflammatory syndrome 2 MONDO:MONDO:0012724,MedGen:C2673198,OMIM:611762,Orphanet:247868 8 8 1.0000 condition_record_support_limited 20 0 2 Familial_cold_autoinflammatory_syndrome_2 12 low_record_burden_interpretation_limited low_record_burden_gene NLRC4 mondo_mondo_0014472_medgen_c4015067_omim_616050_orphanet_436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome MONDO:MONDO:0014472,MedGen:C4015067,OMIM:616050,Orphanet:436166 8 8 1.0000 condition_record_support_limited 20 0 5 Periodic_fever-infantile_enterocolitis-autoinflammatory_syndrome 14 low_record_burden_interpretation_limited low_record_burden_gene NKX6-2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 4 not_provided 23 compact_adjacent_exon_block_opportunity local_compact_architecture NKX2-1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NHEJ1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 2 not_provided 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NF1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0000997_medgen_c1860335 Axillary freckling Human_Phenotype_Ontology:HP:0000997,MedGen:C1860335 8 8 1.0000 condition_record_support_limited 20 0 8 Axillary_freckling 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NEUROG3 human_phenotype_ontology_hp_6001346_mondo_mondo_0012479_medgen_c1835888_omim_610370_orphanet_83620 Congenital malabsorptive diarrhea 4 Human_Phenotype_Ontology:HP:6001346,MONDO:MONDO:0012479,MedGen:C1835888,OMIM:610370,Orphanet:83620 8 8 1.0000 condition_record_support_limited 20 0 4 Congenital_malabsorptive_diarrhea_4 14 low_record_burden_interpretation_limited low_record_burden_gene NEDD4L mondo_mondo_0014966_medgen_c4310669_omim_617201 Periventricular nodular heterotopia 7 MONDO:MONDO:0014966,MedGen:C4310669,OMIM:617201 8 8 1.0000 condition_record_support_limited 20 0 4 Periventricular_nodular_heterotopia_7 9 low_record_burden_interpretation_limited low_record_burden_gene NDUFS8 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 2 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene NDE1 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 4 not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCKAP1 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 0 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCF2 mondo_mondo_0018305_medgen_c0018203_omim_ps306400_orphanet_379 Chronic granulomatous disease MONDO:MONDO:0018305,MedGen:C0018203,OMIM:PS306400,Orphanet:379 8 8 1.0000 condition_record_support_limited 20 0 6 Chronic_granulomatous_disease 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NALCN nalcn_related_disorder NALCN-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 5 NALCN-related_disorder 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYT1L human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 8 8 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYSM1 mondo_mondo_0020856_medgen_c4748257_omim_618116 Bone marrow failure syndrome 4 MONDO:MONDO:0020856,MedGen:C4748257,OMIM:618116 8 8 1.0000 condition_record_support_limited 20 0 3 Bone_marrow_failure_syndrome_4 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYPN condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 5 not_provided 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO15A monogenic_hearing_loss Monogenic hearing loss . 8 8 1.0000 condition_record_support_limited 20 0 7 Monogenic_hearing_loss 714 large_gene_or_donor_burden_stress_case donor_burden_stress MYO15A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 714 large_gene_or_donor_burden_stress_case donor_burden_stress MYO15A mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 8 8 1.0000 condition_record_support_limited 20 0 7 Hearing_loss,_autosomal_recessive 714 large_gene_or_donor_burden_stress_case donor_burden_stress MYLK condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 0 not_provided 73 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYL2 mondo_mondo_0012112_medgen_c1834460_omim_608758 Hypertrophic cardiomyopathy 10 MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 8 8 1.0000 condition_record_support_limited 20 0 7 Hypertrophic_cardiomyopathy_10 17 low_record_burden_interpretation_limited low_record_burden_gene MYH7B mondo_mondo_0008647_medgen_c3495498_omim_192600 Hypertrophic cardiomyopathy 1 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 8 8 1.0000 condition_record_support_limited 20 0 0 Hypertrophic_cardiomyopathy_1 12 low_record_burden_interpretation_limited low_record_burden_gene MYH7 human_phenotype_ontology_hp_0011664_medgen_c4021133 Left ventricular noncompaction cardiomyopathy Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 8 8 1.0000 condition_record_support_limited 20 0 6 Left_ventricular_noncompaction_cardiomyopathy 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH11 mondo_mondo_0025708_medgen_c5543476_omim_619351 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 MONDO:MONDO:0025708,MedGen:C5543476,OMIM:619351 8 8 1.0000 condition_record_support_limited 20 0 5 Megacystis-microcolon-intestinal_hypoperistalsis_syndrome_2 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYBPC1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 4 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene MTRFR mondo_mondo_0014020_medgen_c3539506_omim_615035_orphanet_320375 Hereditary spastic paraplegia 55 MONDO:MONDO:0014020,MedGen:C3539506,OMIM:615035,Orphanet:320375 8 8 1.0000 condition_record_support_limited 20 0 4 Hereditary_spastic_paraplegia_55 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTO1 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 7 not_provided 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTHFD1 mondo_mondo_0011120_medgen_c1866558_omim_601634_orphanet_823 Neural tube defects, folate-sensitive MONDO:MONDO:0011120,MedGen:C1866558,OMIM:601634,Orphanet:823 8 8 1.0000 condition_record_support_limited 20 0 8 Neural_tube_defects,_folate-sensitive 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSRB3 mondo_mondo_0013386_medgen_c2239351_omim_613718_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 74 MONDO:MONDO:0013386,MedGen:C2239351,OMIM:613718,Orphanet:90636 8 8 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_nonsyndromic_hearing_loss_74 10 low_record_burden_interpretation_limited low_record_burden_gene MSL3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 5 not_provided 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSL3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 8 8 1.0000 condition_record_support_limited 20 0 5 Intellectual_disability 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MRPS22 mondo_mondo_0012718_medgen_c2673642_omim_611719_orphanet_137908 Hypotonia with lactic acidemia and hyperammonemia MONDO:MONDO:0012718,MedGen:C2673642,OMIM:611719,Orphanet:137908 8 8 1.0000 condition_record_support_limited 20 0 2 Hypotonia_with_lactic_acidemia_and_hyperammonemia 19 low_record_burden_interpretation_limited low_record_burden_gene MPIG6B mondo_mondo_0044316_medgen_c4479504_omim_617441 Thrombocytopenia, anemia, and myelofibrosis MONDO:MONDO:0044316,MedGen:C4479504,OMIM:617441 8 8 1.0000 condition_record_support_limited 20 0 1 Thrombocytopenia,_anemia,_and_myelofibrosis 10 low_record_burden_interpretation_limited low_record_burden_gene MOS mondo_mondo_0957278_medgen_c5830539_omim_620383 Oocyte/zygote/embryo maturation arrest 20 MONDO:MONDO:0957278,MedGen:C5830539,OMIM:620383 8 8 1.0000 condition_record_support_limited 20 0 0 Oocyte/zygote/embryo_maturation_arrest_20 8 low_record_burden_interpretation_limited low_record_burden_gene MMP21 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 5 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMACHC mmachc_related_disorder MMACHC-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 8 MMACHC-related_disorder 178 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MLH1 human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Endometrial carcinoma Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 8 8 1.0000 condition_record_support_limited 20 0 6 Endometrial_carcinoma 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MIPEP condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 4 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene MED12 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 8 8 1.0000 condition_record_support_limited 20 0 3 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MCCC2 mccc2_related_disorder MCCC2-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 7 MCCC2-related_disorder 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MBOAT7 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 3 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAU2 mondo_mondo_0016033_medgen_c0270972_omim_ps122470_orphanet_199 De Lange syndrome MONDO:MONDO:0016033,MedGen:C0270972,OMIM:PS122470,Orphanet:199 8 8 1.0000 condition_record_support_limited 20 0 0 De_Lange_syndrome 12 low_record_burden_interpretation_limited low_record_burden_gene MAPK1 mondo_mondo_0033669_medgen_c5436773_omim_619087 Noonan syndrome 13 MONDO:MONDO:0033669,MedGen:C5436773,OMIM:619087 8 8 1.0000 condition_record_support_limited 20 0 6 Noonan_syndrome_13 13 low_record_burden_interpretation_limited low_record_burden_gene MAP4K4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 14 low_record_burden_interpretation_limited low_record_burden_gene MAP3K20 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 1 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene MAP2K2 mondo_mondo_0015280_medgen_c1275081_omim_ps115150_orphanet_1340 Cardio-facio-cutaneous syndrome MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340 8 8 1.0000 condition_record_support_limited 20 0 7 Cardio-facio-cutaneous_syndrome 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAGI2 mondo_mondo_0033262_medgen_c4539896_omim_617609 Nephrotic syndrome 15 MONDO:MONDO:0033262,MedGen:C4539896,OMIM:617609 8 8 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome_15 9 low_record_burden_interpretation_limited low_record_burden_gene MAFB condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 4 not_provided 24 single_exon_hotspot_opportunity local_compact_architecture LRRK2 mondo_mondo_0011764_medgen_c1846862_omim_607060_orphanet_411602 Autosomal dominant Parkinson disease 8 MONDO:MONDO:0011764,MedGen:C1846862,OMIM:607060,Orphanet:411602 8 8 1.0000 condition_record_support_limited 20 0 5 Autosomal_dominant_Parkinson_disease_8 10 low_record_burden_interpretation_limited low_record_burden_gene LRRC56 human_phenotype_ontology_hp_0010817_mondo_mondo_0008097_medgen_c4552097_omim_163200_orphanet_2612 Linear nevus sebaceous syndrome Human_Phenotype_Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612 8 8 1.0000 condition_record_support_limited 20 0 8 Linear_nevus_sebaceous_syndrome 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRP5 lrp5_related_disorder LRP5-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 7 LRP5-related_disorder 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRAT mondo_mondo_0013231_medgen_c2750063_omim_613341 Leber congenital amaurosis 14 MONDO:MONDO:0013231,MedGen:C2750063,OMIM:613341 8 8 1.0000 condition_record_support_limited 20 0 6 Leber_congenital_amaurosis_14 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMX1A mondo_mondo_0011074_medgen_c1832379_omim_601412_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 7 MONDO:MONDO:0011074,MedGen:C1832379,OMIM:601412,Orphanet:90635 8 8 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_nonsyndromic_hearing_loss_7 9 low_record_burden_interpretation_limited low_record_burden_gene LMF1 mondo_mondo_0009527_medgen_c1855498_omim_246650_orphanet_535453 Lipase deficiency, combined MONDO:MONDO:0009527,MedGen:C1855498,OMIM:246650,Orphanet:535453 8 8 1.0000 condition_record_support_limited 20 0 7 Lipase_deficiency,_combined 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LFNG mondo_mondo_0012349_medgen_c1853296_omim_609813_orphanet_2311 Spondylocostal dysostosis 3, autosomal recessive MONDO:MONDO:0012349,MedGen:C1853296,OMIM:609813,Orphanet:2311 8 8 1.0000 condition_record_support_limited 20 0 1 Spondylocostal_dysostosis_3,_autosomal_recessive 8 low_record_burden_interpretation_limited low_record_burden_gene LETM1 letm1_associated_clinical_spectrum_with_predominant_nervous_system_involvement LETM1-associated clinical spectrum with predominant nervous system involvement . 8 8 1.0000 condition_record_support_limited 20 0 5 LETM1-associated_clinical_spectrum_with_predominant_nervous_system_involvement 9 low_record_burden_interpretation_limited low_record_burden_gene LDHD mondo_mondo_0009505_medgen_c5193006_omim_245450 Lactic aciduria due to D-lactic acid MONDO:MONDO:0009505,MedGen:C5193006,OMIM:245450 8 8 1.0000 condition_record_support_limited 20 0 2 Lactic_aciduria_due_to_D-lactic_acid 8 low_record_burden_interpretation_limited low_record_burden_gene LAMB2 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 8 8 1.0000 condition_record_support_limited 20 0 4 Nephrotic_syndrome 108 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KRT86 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 8 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene KRT5 mondo_mondo_0030527_medgen_c5562011_omim_619594 Epidermolysis bullosa simplex 2C, localized MONDO:MONDO:0030527,MedGen:C5562011,OMIM:619594 8 8 1.0000 condition_record_support_limited 20 0 8 Epidermolysis_bullosa_simplex_2C,_localized 96 compact_adjacent_exon_block_opportunity local_compact_architecture KRT5 mondo_mondo_0007550_medgen_c0079295_omim_131760_orphanet_79396 Epidermolysis bullosa simplex 1A, generalized severe MONDO:MONDO:0007550,MedGen:C0079295,OMIM:131760,Orphanet:79396 8 8 1.0000 condition_record_support_limited 20 0 7 Epidermolysis_bullosa_simplex_1A,_generalized_severe 96 compact_adjacent_exon_block_opportunity local_compact_architecture KRT2 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 7 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene KRT16 mondo_mondo_0013073_medgen_c4552049_omim_613000 Palmoplantar keratoderma, nonepidermolytic, focal 1 MONDO:MONDO:0013073,MedGen:C4552049,OMIM:613000 8 8 1.0000 condition_record_support_limited 20 0 6 Palmoplantar_keratoderma,_nonepidermolytic,_focal_1 22 compact_adjacent_exon_block_opportunity local_compact_architecture KRT12 mondo_mondo_0020791_medgen_c5231499_omim_122100_orphanet_98954 Corneal dystrophy, Meesmann, 1 MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100,Orphanet:98954 8 8 1.0000 condition_record_support_limited 20 0 7 Corneal_dystrophy,_Meesmann,_1 10 low_record_burden_interpretation_limited low_record_burden_gene KRAS mondo_mondo_0015280_medgen_c1275081_omim_ps115150_orphanet_1340 Cardio-facio-cutaneous syndrome MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340 8 8 1.0000 condition_record_support_limited 20 0 8 Cardio-facio-cutaneous_syndrome 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KLHL24 mondo_mondo_0015006_medgen_c4310631_omim_617294_orphanet_508529 Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss MONDO:MONDO:0015006,MedGen:C4310631,OMIM:617294,Orphanet:508529 8 8 1.0000 condition_record_support_limited 20 0 4 Epidermolysis_bullosa_simplex_6,_generalized,_with_scarring_and_hair_loss 11 low_record_burden_interpretation_limited low_record_burden_gene KIZ mondo_mondo_0014345_medgen_c4014312_omim_615780_orphanet_791 Retinitis pigmentosa 69 MONDO:MONDO:0014345,MedGen:C4014312,OMIM:615780,Orphanet:791 8 8 1.0000 condition_record_support_limited 20 0 7 Retinitis_pigmentosa_69 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIT mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 8 8 1.0000 condition_record_support_limited 20 0 6 Hereditary_cancer-predisposing_syndrome 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIDINS220 kidins220_related_disorder KIDINS220-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 2 KIDINS220-related_disorder 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KDM5C human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 8 8 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1OT1 mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 8 8 1.0000 condition_record_support_limited 20 0 7 Long_QT_syndrome 19 low_record_burden_interpretation_limited low_record_burden_gene KCNJ11 mondo_mondo_0016391_medgen_c0158981_orphanet_224 Neonatal diabetes mellitus MONDO:MONDO:0016391,MedGen:C0158981,Orphanet:224 8 8 1.0000 condition_record_support_limited 20 0 5 Neonatal_diabetes_mellitus 72 single_exon_hotspot_opportunity local_compact_architecture KCNJ11 mondo_mondo_0014589_medgen_c4225365_omim_616329_orphanet_552 Maturity-onset diabetes of the young type 13 MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552 8 8 1.0000 condition_record_support_limited 20 0 7 Maturity-onset_diabetes_of_the_young_type_13 72 single_exon_hotspot_opportunity local_compact_architecture KCNE1 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 5 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JARID2 mondo_mondo_0859306_medgen_c5774242_omim_620098 Developmental delay with variable intellectual disability and dysmorphic facies MONDO:MONDO:0859306,MedGen:C5774242,OMIM:620098 8 8 1.0000 condition_record_support_limited 20 0 1 Developmental_delay_with_variable_intellectual_disability_and_dysmorphic_facies 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JAG1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 8 8 1.0000 condition_record_support_limited 20 0 5 Cardiovascular_phenotype 461 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IYD mondo_mondo_0010136_medgen_c0342195_omim_274800_orphanet_95716 Iodotyrosine deiodination defect MONDO:MONDO:0010136,MedGen:C0342195,OMIM:274800,Orphanet:95716 8 8 1.0000 condition_record_support_limited 20 0 1 Iodotyrosine_deiodination_defect 8 low_record_burden_interpretation_limited low_record_burden_gene ITPR1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 85 large_gene_or_donor_burden_stress_case donor_burden_stress IRF2BPL mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 96 single_exon_hotspot_opportunity local_compact_architecture IRF2BPL irf2bpl_related_disorder IRF2BPL-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 5 IRF2BPL-related_disorder 96 single_exon_hotspot_opportunity local_compact_architecture IQCE mondo_mondo_0060550_medgen_c4539976_omim_617642 Polydactyly, postaxial, type a7 MONDO:MONDO:0060550,MedGen:C4539976,OMIM:617642 8 8 1.0000 condition_record_support_limited 20 0 1 Polydactyly,_postaxial,_type_a7 9 low_record_burden_interpretation_limited low_record_burden_gene IQCB1 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 8 8 1.0000 condition_record_support_limited 20 0 6 Leber_congenital_amaurosis 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IPO8 ipo8_related_aortopathy IPO8-related aortopathy . 8 8 1.0000 condition_record_support_limited 20 0 5 IPO8-related_aortopathy 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INSR mondo_mondo_0012381_medgen_c1864952_omim_609968_orphanet_263458 Hyperinsulinism due to INSR deficiency MONDO:MONDO:0012381,MedGen:C1864952,OMIM:609968,Orphanet:263458 8 8 1.0000 condition_record_support_limited 20 0 5 Hyperinsulinism_due_to_INSR_deficiency 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INS mondo_mondo_0013240_medgen_c3150617_omim_613370_orphanet_552 Maturity-onset diabetes of the young type 10 MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552 8 8 1.0000 condition_record_support_limited 20 0 6 Maturity-onset_diabetes_of_the_young_type_10 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPG1 mondo_mondo_0014508_medgen_c4015342_omim_616151_orphanet_99000 Vitelliform macular dystrophy 4 MONDO:MONDO:0014508,MedGen:C4015342,OMIM:616151,Orphanet:99000 8 8 1.0000 condition_record_support_limited 20 0 4 Vitelliform_macular_dystrophy_4 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPDH1 mondo_mondo_0008379_medgen_c1867299_omim_180105_orphanet_791 Retinitis pigmentosa 10 MONDO:MONDO:0008379,MedGen:C1867299,OMIM:180105,Orphanet:791 8 8 1.0000 condition_record_support_limited 20 0 3 Retinitis_pigmentosa_10 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPDH1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 8 8 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IKZF1 mondo_mondo_0014810_medgen_c4225173_omim_616873_orphanet_317473 Pancytopenia due to IKZF1 mutations MONDO:MONDO:0014810,MedGen:C4225173,OMIM:616873,Orphanet:317473 8 8 1.0000 condition_record_support_limited 20 0 3 Pancytopenia_due_to_IKZF1_mutations 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT43 mondo_mondo_0036482_medgen_c4693443_omim_617871 Retinitis pigmentosa 81 MONDO:MONDO:0036482,MedGen:C4693443,OMIM:617871 8 8 1.0000 condition_record_support_limited 20 0 8 Retinitis_pigmentosa_81 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HYLS1 mondo_mondo_0014886_medgen_c4310745_omim_617051_orphanet_488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome MONDO:MONDO:0014886,MedGen:C4310745,OMIM:617051,Orphanet:488627 8 8 1.0000 condition_record_support_limited 20 0 1 Severe_growth_deficiency-strabismus-extensive_dermal_melanocytosis-intellectual_disability_syndrome 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HYLS1 mondo_mondo_0009365_medgen_c1856016_omim_236680_orphanet_2189 Hydrolethalus syndrome 1 MONDO:MONDO:0009365,MedGen:C1856016,OMIM:236680,Orphanet:2189 8 8 1.0000 condition_record_support_limited 20 0 3 Hydrolethalus_syndrome_1 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HYAL2 mondo_mondo_0976127_medgen_c5975586_omim_621063 Muggenthaler-Chowdhury-Chioza syndrome MONDO:MONDO:0976127,MedGen:C5975586,OMIM:621063 8 8 1.0000 condition_record_support_limited 20 0 8 Muggenthaler-Chowdhury-Chioza_syndrome 11 low_record_burden_interpretation_limited low_record_burden_gene HSPB8 mondo_mondo_0976133_medgen_c5568137_omim_621078_orphanet_476093 Myopathy, myofibrillar, 13, with rimmed vacuoles MONDO:MONDO:0976133,MedGen:C5568137,OMIM:621078,Orphanet:476093 8 8 1.0000 condition_record_support_limited 20 0 4 Myopathy,_myofibrillar,_13,_with_rimmed_vacuoles 16 low_record_burden_interpretation_limited low_record_burden_gene HRAS human_phenotype_ontology_hp_0010817_mondo_mondo_0008097_medgen_c4552097_omim_163200_orphanet_2612 Linear nevus sebaceous syndrome Human_Phenotype_Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612 8 8 1.0000 condition_record_support_limited 20 0 8 Linear_nevus_sebaceous_syndrome 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPS5 mondo_mondo_0019312_medgen_c0079504_omim_ps203300_orphanet_79430 Hermansky-Pudlak syndrome MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430 8 8 1.0000 condition_record_support_limited 20 0 8 Hermansky-Pudlak_syndrome 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPS1 hps1_related_disorder HPS1-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 8 HPS1-related_disorder 194 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF1A human_phenotype_ontology_hp_0000819_human_phenotype_ontology_hp_0004908_human_phenotype_ontology_hp_0008217_human_phenotype_ontology_hp_0008234_human_phenotype_ontology_hp_0008260_mondo_mondo_0005015_medgen_c0011849 Diabetes mellitus Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849 8 8 1.0000 condition_record_support_limited 20 0 6 Diabetes_mellitus 384 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HK1 mondo_mondo_0009340_medgen_c3150343_omim_235700_orphanet_90031 Hemolytic anemia due to hexokinase deficiency MONDO:MONDO:0009340,MedGen:C3150343,OMIM:235700,Orphanet:90031 8 8 1.0000 condition_record_support_limited 20 0 4 Hemolytic_anemia_due_to_hexokinase_deficiency 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HECTD4 mondo_mondo_0859516_medgen_c5830296_omim_620250 Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum MONDO:MONDO:0859516,MedGen:C5830296,OMIM:620250 8 8 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_seizures,_spasticity,_and_complete_or_partial_agenesis_of_the_corpus_callosum 9 low_record_burden_interpretation_limited low_record_burden_gene HDAC8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HCN4 mondo_mondo_0008102_medgen_c1834144_omim_163800_orphanet_166282 Sick sinus syndrome 2, autosomal dominant MONDO:MONDO:0008102,MedGen:C1834144,OMIM:163800,Orphanet:166282 8 8 1.0000 condition_record_support_limited 20 0 2 Sick_sinus_syndrome_2,_autosomal_dominant 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GZF1 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 2 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene GSS mondo_mondo_0017909_medgen_c5979912_orphanet_32 Inherited glutathione synthetase deficiency MONDO:MONDO:0017909,MedGen:C5979912,Orphanet:32 8 8 1.0000 condition_record_support_limited 20 0 6 Inherited_glutathione_synthetase_deficiency 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRXCR1 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 6 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene GRM7 mondo_mondo_0030063_medgen_c5394517_omim_618922 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:MONDO:0030063,MedGen:C5394517,OMIM:618922 8 8 1.0000 condition_record_support_limited 20 0 4 Neurodevelopmental_disorder_with_seizures,_hypotonia,_and_brain_imaging_abnormalities 10 low_record_burden_interpretation_limited low_record_burden_gene GRIN2A human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 8 8 1.0000 condition_record_support_limited 20 0 3 Seizure 291 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIA4 mondo_mondo_0060641_medgen_c4693391_omim_617864 Neurodevelopmental disorder with or without seizures and gait abnormalities MONDO:MONDO:0060641,MedGen:C4693391,OMIM:617864 8 8 1.0000 condition_record_support_limited 20 0 5 Neurodevelopmental_disorder_with_or_without_seizures_and_gait_abnormalities 11 low_record_burden_interpretation_limited low_record_burden_gene GRIA2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 3 not_provided 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPIHBP1 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 4 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP9 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 6 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP1BB human_phenotype_ontology_hp_0040185_medgen_c2751260 Macrothrombocytopenia Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260 8 8 1.0000 condition_record_support_limited 20 0 4 Macrothrombocytopenia 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP1BA human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 8 8 1.0000 condition_record_support_limited 20 0 6 Thrombocytopenia 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GOSR2 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 7 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNS condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 5 not_provided 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB2 mondo_mondo_0859185_medgen_c5561974_omim_619503 Neurodevelopmental disorder with hypotonia and dysmorphic facies MONDO:MONDO:0859185,MedGen:C5561974,OMIM:619503 8 8 1.0000 condition_record_support_limited 20 0 4 Neurodevelopmental_disorder_with_hypotonia_and_dysmorphic_facies 12 low_record_burden_interpretation_limited low_record_burden_gene GLUD1 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 4 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene GLI2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLA medgen_c1970820 Fabry disease, cardiac variant MedGen:C1970820 8 8 1.0000 condition_record_support_limited 20 0 8 Fabry_disease,_cardiac_variant 1115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GK condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 0 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 8 8 1.0000 condition_record_support_limited 20 0 8 Hearing_loss,_autosomal_recessive 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GIGYF1 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 8 8 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene GH1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 6 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GEMIN5 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 1 not_provided 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA4 mondo_mondo_0005453_medgen_c0152021 Congenital heart disease MONDO:MONDO:0005453,MedGen:C0152021 8 8 1.0000 condition_record_support_limited 20 0 0 Congenital_heart_disease 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 7 Inborn_genetic_diseases 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA1 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 4 not_provided 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA1 mondo_mondo_0010444_medgen_c3550856_omim_300835_orphanet_363727 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia MONDO:MONDO:0010444,MedGen:C3550856,OMIM:300835,Orphanet:363727 8 8 1.0000 condition_record_support_limited 20 0 7 X-linked_dyserythropoetic_anemia_with_abnormal_platelets_and_neutropenia 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GARS1 mondo_mondo_0015353_medgen_cn031873_omim_600794_orphanet_139536 Neuronopathy, distal hereditary motor, type 5A MONDO:MONDO:0015353,MedGen:CN031873,OMIM:600794,Orphanet:139536 8 8 1.0000 condition_record_support_limited 20 0 7 Neuronopathy,_distal_hereditary_motor,_type_5A 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GANAB human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Autosomal dominant polycystic liver disease Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 8 8 1.0000 condition_record_support_limited 20 0 3 Autosomal_dominant_polycystic_liver_disease 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 8 Inborn_genetic_diseases 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_related_disorder G6PD-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 8 G6PD-related_disorder 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FTSJ1 mondo_mondo_0010660_medgen_c0796215_omim_309549_orphanet_777 Intellectual disability, X-linked 9 MONDO:MONDO:0010660,MedGen:C0796215,OMIM:309549,Orphanet:777 8 8 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_X-linked_9 15 low_record_burden_interpretation_limited low_record_burden_gene FSHR mondo_mondo_0011972_medgen_c0085083_omim_608115_orphanet_64739 Ovarian hyperstimulation syndrome MONDO:MONDO:0011972,MedGen:C0085083,OMIM:608115,Orphanet:64739 8 8 1.0000 condition_record_support_limited 20 0 2 Ovarian_hyperstimulation_syndrome 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FRRS1L condition_not_provided condition not provided .|MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 6 See_cases|not_provided 39 compact_adjacent_exon_block_opportunity local_compact_architecture FOXP2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FN1 mondo_mondo_0011165_medgen_c1866075_omim_601894_orphanet_84090 Glomerulopathy with fibronectin deposits 2 MONDO:MONDO:0011165,MedGen:C1866075,OMIM:601894,Orphanet:84090 8 8 1.0000 condition_record_support_limited 20 0 2 Glomerulopathy_with_fibronectin_deposits_2 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC flnc_related_disorder FLNC-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 7 FLNC-related_disorder 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNB flnb_related_disorder FLNB-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 3 FLNB-related_disorder 153 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA mondo_mondo_0010704_medgen_c0265251_omim_311300_orphanet_669_orphanet_90650 Oto-palato-digital syndrome, type I MONDO:MONDO:0010704,MedGen:C0265251,OMIM:311300,Orphanet:669,Orphanet:90650 8 8 1.0000 condition_record_support_limited 20 0 7 Oto-palato-digital_syndrome,_type_I 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA mondo_mondo_0024550_medgen_c4281559_omim_305620_orphanet_1826 Frontometaphyseal dysplasia 1 MONDO:MONDO:0024550,MedGen:C4281559,OMIM:305620,Orphanet:1826 8 8 1.0000 condition_record_support_limited 20 0 6 Frontometaphyseal_dysplasia_1 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FHL1 mondo_mondo_0010415_medgen_c4225159_omim_300718_orphanet_97239 Myopathy, reducing body, X-linked, childhood-onset MONDO:MONDO:0010415,MedGen:C4225159,OMIM:300718,Orphanet:97239 8 8 1.0000 condition_record_support_limited 20 0 6 Myopathy,_reducing_body,_X-linked,_childhood-onset 101 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 mondo_mondo_0010108_medgen_c1336708_omim_273300_orphanet_363504 Germ cell tumor of testis MONDO:MONDO:0010108,MedGen:C1336708,OMIM:273300,Orphanet:363504 8 8 1.0000 condition_record_support_limited 20 0 8 Germ_cell_tumor_of_testis 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 8 8 1.0000 condition_record_support_limited 20 0 8 Colorectal_cancer 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGF8 condition_not_provided condition not provided .|MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 5 See_cases|not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene FGF8 mondo_mondo_0012988_medgen_c3552574_omim_612702_orphanet_478 Hypogonadotropic hypogonadism 6 with or without anosmia MONDO:MONDO:0012988,MedGen:C3552574,OMIM:612702,Orphanet:478 8 8 1.0000 condition_record_support_limited 20 0 3 Hypogonadotropic_hypogonadism_6_with_or_without_anosmia 18 low_record_burden_interpretation_limited low_record_burden_gene FGF23 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 6 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene FGF10 mondo_mondo_0007872_medgen_c0265269_omim_ps149730_orphanet_2363 Levy-Hollister syndrome MONDO:MONDO:0007872,MedGen:C0265269,OMIM:PS149730,Orphanet:2363 8 8 1.0000 condition_record_support_limited 20 0 2 Levy-Hollister_syndrome 25 compact_adjacent_exon_block_opportunity local_compact_architecture FGB condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 3 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene FERRY3 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 1 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene FDXR condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 4 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXW11 mondo_mondo_0030057_medgen_c5394477_omim_618914 Neurodevelopmental, jaw, eye, and digital syndrome MONDO:MONDO:0030057,MedGen:C5394477,OMIM:618914 8 8 1.0000 condition_record_support_limited 20 0 3 Neurodevelopmental,_jaw,_eye,_and_digital_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene FBXO28 mondo_mondo_0030695_medgen_c5676932_omim_619777 Developmental and epileptic encephalopathy 100 MONDO:MONDO:0030695,MedGen:C5676932,OMIM:619777 8 8 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy_100 9 low_record_burden_interpretation_limited low_record_burden_gene FBXO11 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBN1 mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 8 8 1.0000 condition_record_support_limited 20 0 7 Connective_tissue_disorder 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FANCE condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 8 8 1.0000 condition_record_support_limited 20 8 8 not_provided|not_specified 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F12 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 3 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene EYA1 eya1_related_disorder EYA1-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 7 EYA1-related_disorder 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 516 compact_adjacent_exon_block_opportunity local_compact_architecture EXOSC9 mondo_mondo_0054844_medgen_c4748058_omim_618065 Pontocerebellar hypoplasia, type 1D MONDO:MONDO:0054844,MedGen:C4748058,OMIM:618065 8 8 1.0000 condition_record_support_limited 20 0 4 Pontocerebellar_hypoplasia,_type_1D 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXOC6B condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 0 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene EVC2 evc2_related_disorder EVC2-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 6 EVC2-related_disorder 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETV6 human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 8 8 1.0000 condition_record_support_limited 20 0 7 Thrombocytopenia 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETFDH mondo_mondo_0700076_medgen_c3278156 Glutaric acidemia IIc MONDO:MONDO:0700076,MedGen:C3278156 8 8 1.0000 condition_record_support_limited 20 0 8 Glutaric_acidemia_IIc 301 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETFDH etfdh_related_disorder ETFDH-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 7 ETFDH-related_disorder 301 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPG5 epg5_related_disorder EPG5-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 5 EPG5-related_disorder 213 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ELN eln_related_disorder ELN-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 3 ELN-related_disorder 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2S3 mondo_mondo_0010258_medgen_c1846278_omim_300148_orphanet_85282 MEHMO syndrome MONDO:MONDO:0010258,MedGen:C1846278,OMIM:300148,Orphanet:85282 8 8 1.0000 condition_record_support_limited 20 0 1 MEHMO_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene EIF2B3 mondo_mondo_0800448_medgen_c1858991_omim_ps603896_orphanet_135_orphanet_99853 Vanishing white matter disease MONDO:MONDO:0800448,MedGen:C1858991,OMIM:PS603896,Orphanet:135,Orphanet:99853 8 8 1.0000 condition_record_support_limited 20 0 5 Vanishing_white_matter_disease 16 low_record_burden_interpretation_limited low_record_burden_gene EIF2B1 mondo_mondo_0800448_medgen_c1858991_omim_ps603896_orphanet_135_orphanet_99853 Vanishing white matter disease MONDO:MONDO:0800448,MedGen:C1858991,OMIM:PS603896,Orphanet:135,Orphanet:99853 8 8 1.0000 condition_record_support_limited 20 0 3 Vanishing_white_matter_disease 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EDARADD mondo_mondo_0013982_medgen_c3541517_omim_614940_orphanet_1810_orphanet_238468 Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant MONDO:MONDO:0013982,MedGen:C3541517,OMIM:614940,Orphanet:1810,Orphanet:238468 8 8 1.0000 condition_record_support_limited 20 0 6 Ectodermal_dysplasia_11A,_hypohidrotic/hair/tooth_type,_autosomal_dominant 16 low_record_burden_interpretation_limited low_record_burden_gene DYRK1A human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 8 8 1.0000 condition_record_support_limited 20 0 8 Microcephaly 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYRK1A human_phenotype_ontology_hp_0011968_medgen_c0232466 Feeding difficulties Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466 8 8 1.0000 condition_record_support_limited 20 0 8 Feeding_difficulties 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYRK1A human_phenotype_ontology_hp_0000490_human_phenotype_ontology_hp_0000663_mondo_mondo_0001210_medgen_c0423224 Deeply set eye Human_Phenotype_Ontology:HP:0000490,Human_Phenotype_Ontology:HP:0000663,MONDO:MONDO:0001210,MedGen:C0423224 8 8 1.0000 condition_record_support_limited 20 0 8 Deeply_set_eye 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYRK1A medgen_c3276611 Absent or delayed speech development MedGen:C3276611 8 8 1.0000 condition_record_support_limited 20 0 8 Absent_or_delayed_speech_development 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSE mondo_mondo_0014236_medgen_c3809845_omim_615539_orphanet_2953 Ehlers-Danlos syndrome, musculocontractural type 2 MONDO:MONDO:0014236,MedGen:C3809845,OMIM:615539,Orphanet:2953 8 8 1.0000 condition_record_support_limited 20 0 1 Ehlers-Danlos_syndrome,_musculocontractural_type_2 15 low_record_burden_interpretation_limited low_record_burden_gene DPAGT1 mondo_mondo_0015286_medgen_c0282577_orphanet_137 Congenital disorder of glycosylation MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137 8 8 1.0000 condition_record_support_limited 20 0 3 Congenital_disorder_of_glycosylation 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOT1L mondo_mondo_0979246_medgen_c6012751_omim_621265 Nil-Deshwar neurodevelopmental syndrome MONDO:MONDO:0979246,MedGen:C6012751,OMIM:621265 8 8 1.0000 condition_record_support_limited 20 0 1 Nil-Deshwar_neurodevelopmental_syndrome 9 low_record_burden_interpretation_limited low_record_burden_gene DOLK mondo_mondo_0012556_medgen_c1835849_omim_610768_orphanet_91131 DK1-congenital disorder of glycosylation MONDO:MONDO:0012556,MedGen:C1835849,OMIM:610768,Orphanet:91131 8 8 1.0000 condition_record_support_limited 20 0 1 DK1-congenital_disorder_of_glycosylation 14 low_record_burden_interpretation_limited low_record_burden_gene DOCK11 mondo_mondo_0957494_medgen_c5829577_omim_301109 Autoinflammatory disease, multisystem, with immune dysregulation, X-linked MONDO:MONDO:0957494,MedGen:C5829577,OMIM:301109 8 8 1.0000 condition_record_support_limited 20 0 7 Autoinflammatory_disease,_multisystem,_with_immune_dysregulation,_X-linked 14 low_record_burden_interpretation_limited low_record_burden_gene DNAL1 mondo_mondo_0013525_medgen_c3151460_omim_614017_orphanet_244 Primary ciliary dyskinesia 16 MONDO:MONDO:0013525,MedGen:C3151460,OMIM:614017,Orphanet:244 8 8 1.0000 condition_record_support_limited 20 0 2 Primary_ciliary_dyskinesia_16 10 low_record_burden_interpretation_limited low_record_burden_gene DNAI1 dnai1_related_disorder DNAI1-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 6 DNAI1-related_disorder 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAH1 dnah1_related_disorder DNAH1-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 3 DNAH1-related_disorder 139 large_gene_or_donor_burden_stress_case donor_burden_stress DMD dmd_related_disorder DMD-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 7 DMD-related_disorder 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DLL4 mondo_mondo_0007034_medgen_c0265268_omim_ps100300_orphanet_974 Adams-Oliver syndrome MONDO:MONDO:0007034,MedGen:C0265268,OMIM:PS100300,Orphanet:974 8 8 1.0000 condition_record_support_limited 20 0 6 Adams-Oliver_syndrome 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHH mondo_mondo_0009301_medgen_c1856273_omim_233420_orphanet_242 46,XY sex reversal 7 MONDO:MONDO:0009301,MedGen:C1856273,OMIM:233420,Orphanet:242 8 8 1.0000 condition_record_support_limited 20 0 0 46,XY_sex_reversal_7 19 low_record_burden_interpretation_limited low_record_burden_gene DENND5A mondo_mondo_0015002_medgen_c4310635_omim_617281 Developmental and epileptic encephalopathy, 49 MONDO:MONDO:0015002,MedGen:C4310635,OMIM:617281 8 8 1.0000 condition_record_support_limited 20 0 2 Developmental_and_epileptic_encephalopathy,_49 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX6 mondo_mondo_0032851_medgen_c5231444_omim_618653 Intellectual developmental disorder with impaired language and dysmorphic facies MONDO:MONDO:0032851,MedGen:C5231444,OMIM:618653 8 8 1.0000 condition_record_support_limited 20 0 2 Intellectual_developmental_disorder_with_impaired_language_and_dysmorphic_facies 8 low_record_burden_interpretation_limited low_record_burden_gene DDR2 mondo_mondo_0010077_medgen_c1849011_omim_271665_orphanet_93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome MONDO:MONDO:0010077,MedGen:C1849011,OMIM:271665,Orphanet:93358 8 8 1.0000 condition_record_support_limited 20 0 1 Spondyloepimetaphyseal_dysplasia-short_limb-abnormal_calcification_syndrome 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDB2 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 2 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene DCHS1 mondo_mondo_0011070_medgen_c4551950_omim_601390_orphanet_314679 Van Maldergem syndrome 1 MONDO:MONDO:0011070,MedGen:C4551950,OMIM:601390,Orphanet:314679 8 8 1.0000 condition_record_support_limited 20 0 0 Van_Maldergem_syndrome_1 40 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DCDC2 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 7 not_provided 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DARS1 mondo_mondo_0014115_medgen_c4755254_omim_615281_orphanet_363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity MONDO:MONDO:0014115,MedGen:C4755254,OMIM:615281,Orphanet:363412 8 8 1.0000 condition_record_support_limited 20 0 0 Hypomyelination_with_brain_stem_and_spinal_cord_involvement_and_leg_spasticity 11 low_record_burden_interpretation_limited low_record_burden_gene CYP11B1 cyp11b1_related_disorder CYP11B1-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 8 CYP11B1-related_disorder 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYBB mondo_mondo_0018305_medgen_c0018203_omim_ps306400_orphanet_379 Chronic granulomatous disease MONDO:MONDO:0018305,MedGen:C0018203,OMIM:PS306400,Orphanet:379 8 8 1.0000 condition_record_support_limited 20 0 8 Chronic_granulomatous_disease 206 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CXCR4 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 5 not_provided 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUX1 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 4 not_provided 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSF condition_not_provided condition not provided .|MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 3 See_cases|not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSD mondo_mondo_0012414_medgen_c1864669_omim_610127_orphanet_228337 Neuronal ceroid lipofuscinosis 10 MONDO:MONDO:0012414,MedGen:C1864669,OMIM:610127,Orphanet:228337 8 8 1.0000 condition_record_support_limited 20 0 3 Neuronal_ceroid_lipofuscinosis_10 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 8 8 1.0000 condition_record_support_limited 20 0 6 Colorectal_cancer 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRYGC condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 1 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRYAA mondo_mondo_0011413_medgen_c1858679_omim_604219_orphanet_1377 Cataract 9 multiple types MONDO:MONDO:0011413,MedGen:C1858679,OMIM:604219,Orphanet:1377 8 8 1.0000 condition_record_support_limited 20 0 5 Cataract_9_multiple_types 11 low_record_burden_interpretation_limited low_record_burden_gene CRX human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 8 8 1.0000 condition_record_support_limited 20 0 7 Retinitis_pigmentosa 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRLF1 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 4 not_provided 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRB2 mondo_mondo_0009063_medgen_c1857423_omim_219730_orphanet_443988 Ventriculomegaly-cystic kidney disease MONDO:MONDO:0009063,MedGen:C1857423,OMIM:219730,Orphanet:443988 8 8 1.0000 condition_record_support_limited 20 0 6 Ventriculomegaly-cystic_kidney_disease 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPOX medgen_c0342856 Coproporphyria MedGen:C0342856 8 8 1.0000 condition_record_support_limited 20 0 1 Coproporphyria 40 compact_adjacent_exon_block_opportunity local_compact_architecture CP mondo_mondo_0018307_medgen_c2931845_omim_ps234200_orphanet_385 Neurodegeneration with brain iron accumulation MONDO:MONDO:0018307,MedGen:C2931845,OMIM:PS234200,Orphanet:385 8 8 1.0000 condition_record_support_limited 20 0 7 Neurodegeneration_with_brain_iron_accumulation 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ7 mondo_mondo_0014754_medgen_c4225226_omim_616733 Primary coenzyme Q10 deficiency 8 MONDO:MONDO:0014754,MedGen:C4225226,OMIM:616733 8 8 1.0000 condition_record_support_limited 20 0 0 Primary_coenzyme_Q10_deficiency_8 12 low_record_burden_interpretation_limited low_record_burden_gene COMP human_phenotype_ontology_hp_0002654_mondo_mondo_0016648_medgen_c0026760_omim_ps132400_orphanet_251 Multiple epiphyseal dysplasia Human_Phenotype_Ontology:HP:0002654,MONDO:MONDO:0016648,MedGen:C0026760,OMIM:PS132400,Orphanet:251 8 8 1.0000 condition_record_support_limited 20 0 8 Multiple_epiphyseal_dysplasia 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COMP comp_related_disorder COMP-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 7 COMP-related_disorder 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A1 col9a1_related_disorder COL9A1-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 6 COL9A1-related_disorder 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL5A2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 0 not_provided 62 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 855 large_gene_or_donor_burden_stress_case donor_burden_stress COL17A1 col17a1_related_disorder COL17A1-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 7 COL17A1-related_disorder 180 large_gene_or_donor_burden_stress_case donor_burden_stress COG4 mondo_mondo_0019407_medgen_c4509877_omim_618150_orphanet_85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type MONDO:MONDO:0019407,MedGen:C4509877,OMIM:618150,Orphanet:85172 8 8 1.0000 condition_record_support_limited 20 0 4 Microcephalic_osteodysplastic_dysplasia,_Saul-Wilson_type 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNPY3 mondo_mondo_0033369_medgen_c4693663_omim_617929 Developmental and epileptic encephalopathy, 60 MONDO:MONDO:0033369,MedGen:C4693663,OMIM:617929 8 8 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_60 8 low_record_burden_interpretation_limited low_record_burden_gene CLPP condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 2 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN8 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 7 not_provided 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN8 mondo_mondo_0012391_medgen_c1864923_omim_610003_orphanet_1947 Neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:MONDO:0012391,MedGen:C1864923,OMIM:610003,Orphanet:1947 8 8 1.0000 condition_record_support_limited 20 0 8 Neuronal_ceroid_lipofuscinosis_8_northern_epilepsy_variant 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLMP mondo_mondo_0020718_medgen_cn296805_omim_615237 Congenital short bowel syndrome, autosomal recessive MONDO:MONDO:0020718,MedGen:CN296805,OMIM:615237 8 8 1.0000 condition_record_support_limited 20 0 2 Congenital_short_bowel_syndrome,_autosomal_recessive 9 low_record_burden_interpretation_limited low_record_burden_gene CLCN3 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 8 8 1.0000 condition_record_support_limited 20 0 8 Neurodevelopmental_delay 17 low_record_burden_interpretation_limited low_record_burden_gene CLCN1 human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 8 8 1.0000 condition_record_support_limited 20 0 7 Tip-toe_gait 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CKAP2L condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 4 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHST3 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 6 not_provided 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNE chrne_related_disorder CHRNE-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 8 CHRNE-related_disorder 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHD5 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 8 8 1.0000 condition_record_support_limited 20 0 8 Seizure 39 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CFAP53 mondo_mondo_0013887_medgen_c3553676_omim_614779_orphanet_450 Heterotaxy, visceral, 6, autosomal MONDO:MONDO:0013887,MedGen:C3553676,OMIM:614779,Orphanet:450 8 8 1.0000 condition_record_support_limited 20 0 0 Heterotaxy,_visceral,_6,_autosomal 12 low_record_burden_interpretation_limited low_record_burden_gene CFAP418 mondo_mondo_0013786_medgen_c3281045_omim_614500 Cone-rod dystrophy 16 MONDO:MONDO:0013786,MedGen:C3281045,OMIM:614500 8 8 1.0000 condition_record_support_limited 20 0 5 Cone-rod_dystrophy_16 26 compact_adjacent_exon_block_opportunity local_compact_architecture CEP85L mondo_mondo_0030031_medgen_c5394354_omim_618873 Lissencephaly 10 MONDO:MONDO:0030031,MedGen:C5394354,OMIM:618873 8 8 1.0000 condition_record_support_limited 20 0 5 Lissencephaly_10 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP152 cep152_related_disorder CEP152-related disorder MedGen:CN239248 8 8 1.0000 condition_record_support_limited 20 0 7 CEP152-related_disorder 142 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CELSR1 mondo_mondo_0030270_medgen_c5543365_omim_619319 Lymphatic malformation 9 MONDO:MONDO:0030270,MedGen:C5543365,OMIM:619319 8 8 1.0000 condition_record_support_limited 20 0 3 Lymphatic_malformation_9 14 low_record_burden_interpretation_limited low_record_burden_gene CDHR1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 8 8 1.0000 condition_record_support_limited 20 0 5 Retinitis_pigmentosa 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH1 human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Prostate cancer Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 8 8 1.0000 condition_record_support_limited 20 0 8 Prostate_cancer 622 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CDH1 human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Ovarian neoplasm Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 8 8 1.0000 condition_record_support_limited 20 0 8 Ovarian_neoplasm 622 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CD247 mondo_mondo_0012426_medgen_c1857798_omim_610163 Immunodeficiency 25 MONDO:MONDO:0012426,MedGen:C1857798,OMIM:610163 8 8 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency_25 8 low_record_burden_interpretation_limited low_record_burden_gene CCNH mondo_mondo_0011556_medgen_c2751544_omim_605462 Basal cell carcinoma, susceptibility to, 1 MONDO:MONDO:0011556,MedGen:C2751544,OMIM:605462 8 8 1.0000 condition_record_support_limited 20 0 7 Basal_cell_carcinoma,_susceptibility_to,_1 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A mondo_mondo_0800103_medgen_c5435651_omim_216360_orphanet_1454 COACH syndrome 1 MONDO:MONDO:0800103,MedGen:C5435651,OMIM:216360,Orphanet:1454 8 8 1.0000 condition_record_support_limited 20 0 7 COACH_syndrome_1 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASR familial_hyperparathyroidism_or_hypocalciuric_hypercalcaemia Familial hyperparathyroidism or Hypocalciuric hypercalcaemia . 8 8 1.0000 condition_record_support_limited 20 0 3 Familial_hyperparathyroidism_or_Hypocalciuric_hypercalcaemia 313 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CARD14 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 8 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene CARD14 papulosquamous_eruptions Papulosquamous eruptions . 8 8 1.0000 condition_record_support_limited 20 0 5 Papulosquamous_eruptions 16 low_record_burden_interpretation_limited low_record_burden_gene CAMK2A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 8 8 1.0000 condition_record_support_limited 20 0 6 Intellectual_disability 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNA1G mondo_mondo_0014776_medgen_c4225205_omim_616795_orphanet_458803 Spinocerebellar ataxia type 42 MONDO:MONDO:0014776,MedGen:C4225205,OMIM:616795,Orphanet:458803 8 8 1.0000 condition_record_support_limited 20 0 3 Spinocerebellar_ataxia_type_42 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1B mondo_mondo_0032784_medgen_c5193128_omim_618497 Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements MONDO:MONDO:0032784,MedGen:C5193128,OMIM:618497 8 8 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_seizures_and_nonepileptic_hyperkinetic_movements 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A mondo_mondo_0000700_medgen_c0338484_omim_ps141500 Familial hemiplegic migraine MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500 8 8 1.0000 condition_record_support_limited 20 0 8 Familial_hemiplegic_migraine 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture C2ORF69 mondo_mondo_0030378_medgen_c5543631_omim_619423 Combined oxidative phosphorylation deficiency 53 MONDO:MONDO:0030378,MedGen:C5543631,OMIM:619423 8 8 1.0000 condition_record_support_limited 20 0 1 Combined_oxidative_phosphorylation_deficiency_53 8 low_record_burden_interpretation_limited low_record_burden_gene C12ORF57 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 7 not_provided 27 compact_adjacent_exon_block_opportunity local_compact_architecture C12ORF43 mondo_mondo_0015967_medgen_c3888631_orphanet_183625 Monogenic diabetes MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625 8 8 1.0000 condition_record_support_limited 20 0 3 Monogenic_diabetes 10 low_record_burden_interpretation_limited low_record_burden_gene C11ORF65 mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 8 8 1.0000 condition_record_support_limited 20 0 8 Malignant_tumor_of_urinary_bladder 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 8 8 1.0000 condition_record_support_limited 20 0 8 Hereditary_breast_ovarian_cancer_syndrome 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 8 8 1.0000 condition_record_support_limited 20 0 6 Breast_carcinoma 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA2 mondo_mondo_0015278_medgen_c2931038_omim_260350_orphanet_1333 Familial pancreatic carcinoma MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333 8 8 1.0000 condition_record_support_limited 20 0 8 Familial_pancreatic_carcinoma 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 8 8 1.0000 condition_record_support_limited 20 0 8 Malignant_tumor_of_urinary_bladder 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRAT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 7 Inborn_genetic_diseases 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 8 Inborn_genetic_diseases 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BPTF human_phenotype_ontology_hp_0000241_human_phenotype_ontology_hp_0000259_human_phenotype_ontology_hp_0005484_human_phenotype_ontology_hp_0005499_medgen_c0431352 Secondary microcephaly Human_Phenotype_Ontology:HP:0000241,Human_Phenotype_Ontology:HP:0000259,Human_Phenotype_Ontology:HP:0005484,Human_Phenotype_Ontology:HP:0005499,MedGen:C0431352 8 8 1.0000 condition_record_support_limited 20 0 8 Secondary_microcephaly 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BPTF human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 8 8 1.0000 condition_record_support_limited 20 0 8 Global_developmental_delay 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BPTF human_phenotype_ontology_hp_0002474_human_phenotype_ontology_hp_0007192_medgen_c0454641 Expressive language delay Human_Phenotype_Ontology:HP:0002474,Human_Phenotype_Ontology:HP:0007192,MedGen:C0454641 8 8 1.0000 condition_record_support_limited 20 0 8 Expressive_language_delay 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BICD2 mondo_mondo_0032660_medgen_c4749003_omim_618291 Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant MONDO:MONDO:0032660,MedGen:C4749003,OMIM:618291 8 8 1.0000 condition_record_support_limited 20 0 4 Spinal_muscular_atrophy,_lower_extremity-predominant,_2b,_prenatal_onset,_autosomal_dominant 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCHE condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 7 not_provided 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCAS3 mondo_mondo_0859208_medgen_c5562032_omim_619641_orphanet_697067 Hengel-Maroofian-Schols syndrome MONDO:MONDO:0859208,MedGen:C5562032,OMIM:619641,Orphanet:697067 8 8 1.0000 condition_record_support_limited 20 0 5 Hengel-Maroofian-Schols_syndrome 16 low_record_burden_interpretation_limited low_record_burden_gene BCAP31 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 2 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene BBS7 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 8 8 1.0000 condition_record_support_limited 20 0 8 Retinal_dystrophy 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS5 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 7 not_provided 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B3GALT6 mondo_mondo_0010075_medgen_c4017377_omim_271640_orphanet_642099_orphanet_93359 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures MONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640,Orphanet:642099,Orphanet:93359 8 8 1.0000 condition_record_support_limited 20 0 5 Spondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_1,_with_or_without_fractures 36 single_exon_hotspot_opportunity local_compact_architecture ATR mondo_mondo_0013806_medgen_c3281203_omim_614564_orphanet_313846 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome MONDO:MONDO:0013806,MedGen:C3281203,OMIM:614564,Orphanet:313846 8 8 1.0000 condition_record_support_limited 20 0 6 Familial_cutaneous_telangiectasia_and_oropharyngeal_predisposition_cancer_syndrome 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATP6V1B2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 3 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene ATP1A3 mondo_mondo_0700002_medgen_cn305087 ATP1A3-associated neurological disorder MONDO:MONDO:0700002,MedGen:CN305087 8 8 1.0000 condition_record_support_limited 20 0 6 ATP1A3-associated_neurological_disorder 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A2 atp1a2_related_disorder ATP1A2-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 5 ATP1A2-related_disorder 134 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP13A2 mondo_mondo_0018307_medgen_c2931845_omim_ps234200_orphanet_385 Neurodegeneration with brain iron accumulation MONDO:MONDO:0018307,MedGen:C2931845,OMIM:PS234200,Orphanet:385 8 8 1.0000 condition_record_support_limited 20 0 5 Neurodegeneration_with_brain_iron_accumulation 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP13A2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATM mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 1 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 8 8 1.0000 condition_record_support_limited 20 0 8 Breast-ovarian_cancer,_familial,_susceptibility_to,_1 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ASAH1 asah1_related_disorders ASAH1-related disorders MedGen:CN376120 8 8 1.0000 condition_record_support_limited 20 0 8 ASAH1-related_disorders 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARL13B mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 8 8 1.0000 condition_record_support_limited 20 0 4 Joubert_syndrome_and_related_disorders 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARID2 arid2_related_bafopathy ARID2-related BAFopathy . 8 8 1.0000 condition_record_support_limited 20 0 2 ARID2-related_BAFopathy 101 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 141 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARHGEF18 mondo_mondo_0044314_medgen_c4479481_omim_617433 Retinitis pigmentosa 78 MONDO:MONDO:0044314,MedGen:C4479481,OMIM:617433 8 8 1.0000 condition_record_support_limited 20 0 4 Retinitis_pigmentosa_78 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOA5 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 8 8 1.0000 condition_record_support_limited 20 0 3 Cardiovascular_phenotype 14 low_record_burden_interpretation_limited low_record_burden_gene APC2 mondo_mondo_0032866_medgen_c5231458_omim_618677 Cortical dysplasia, complex, with other brain malformations 10 MONDO:MONDO:0032866,MedGen:C5231458,OMIM:618677 8 8 1.0000 condition_record_support_limited 20 0 1 Cortical_dysplasia,_complex,_with_other_brain_malformations_10 24 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANTXR1 mondo_mondo_0009263_medgen_c0406723_omim_230740_orphanet_2067 GAPO syndrome MONDO:MONDO:0009263,MedGen:C0406723,OMIM:230740,Orphanet:2067 8 8 1.0000 condition_record_support_limited 20 0 1 GAPO_syndrome 10 low_record_burden_interpretation_limited low_record_burden_gene ANO6 mondo_mondo_0009885_medgen_c0796149_omim_262890_orphanet_806 SCOTT SYNDROME MONDO:MONDO:0009885,MedGen:C0796149,OMIM:262890,Orphanet:806 8 8 1.0000 condition_record_support_limited 20 0 2 SCOTT_SYNDROME 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO5 ano5_related_disorder ANO5-related disorder MedGen:CN239193 8 8 1.0000 condition_record_support_limited 20 0 7 ANO5-related_disorder 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO3 mondo_mondo_0014019_medgen_c3554374_omim_615034_orphanet_420485 Dystonia 24 MONDO:MONDO:0014019,MedGen:C3554374,OMIM:615034,Orphanet:420485 8 8 1.0000 condition_record_support_limited 20 0 4 Dystonia_24 12 low_record_burden_interpretation_limited low_record_burden_gene ANKRD26 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 7 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene ANKRD26 human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 8 8 1.0000 condition_record_support_limited 20 0 8 Thrombocytopenia 13 low_record_burden_interpretation_limited low_record_burden_gene ANGPTL3 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 2 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene ANAPC15 mondo_mondo_0012670_medgen_c1969621_omim_611451_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 63 MONDO:MONDO:0012670,MedGen:C1969621,OMIM:611451,Orphanet:90636 8 8 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_nonsyndromic_hearing_loss_63 8 low_record_burden_interpretation_limited low_record_burden_gene AMPD2 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 5 not_provided 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMMECR1 mondo_mondo_0010516_medgen_c4310810_omim_300990_orphanet_688581 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis MONDO:MONDO:0010516,MedGen:C4310810,OMIM:300990,Orphanet:688581 8 8 1.0000 condition_record_support_limited 20 0 1 Midface_hypoplasia,_hearing_impairment,_elliptocytosis,_and_nephrocalcinosis 14 low_record_burden_interpretation_limited low_record_burden_gene ALOXE3 mondo_mondo_0017778_medgen_c5848247_orphanet_313 Lamellar ichthyosis MONDO:MONDO:0017778,MedGen:C5848247,Orphanet:313 8 8 1.0000 condition_record_support_limited 20 0 6 Lamellar_ichthyosis 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG8 alg8_related_disorder ALG8-related disorder . 8 8 1.0000 condition_record_support_limited 20 0 5 ALG8-related_disorder 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG6 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 7 not_provided 149 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG5 mondo_mondo_0031062_medgen_c5774222_omim_620056 Polycystic kidney disease 7 MONDO:MONDO:0031062,MedGen:C5774222,OMIM:620056 8 8 1.0000 condition_record_support_limited 20 0 0 Polycystic_kidney_disease_7 8 low_record_burden_interpretation_limited low_record_burden_gene ALG3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 8 8 1.0000 condition_record_support_limited 20 8 5 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH18A1 mondo_mondo_0011006_medgen_c5568978_omim_601162_orphanet_100990_orphanet_447753 Hereditary spastic paraplegia 9A MONDO:MONDO:0011006,MedGen:C5568978,OMIM:601162,Orphanet:100990,Orphanet:447753 8 8 1.0000 condition_record_support_limited 20 0 6 Hereditary_spastic_paraplegia_9A 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALB medgen_c0878666_omim_616000_orphanet_86816 Analbuminemia MedGen:C0878666,OMIM:616000,Orphanet:86816 8 8 1.0000 condition_record_support_limited 20 0 4 Analbuminemia 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHDC1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 8 8 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHDC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGTR1 mondo_mondo_0009970_medgen_c5681536_omim_267430_orphanet_97369 Renal tubular dysgenesis of genetic origin MONDO:MONDO:0009970,MedGen:C5681536,OMIM:267430,Orphanet:97369 8 8 1.0000 condition_record_support_limited 20 0 7 Renal_tubular_dysgenesis_of_genetic_origin 13 low_record_burden_interpretation_limited low_record_burden_gene AGO1 mondo_mondo_0859531_medgen_c5830365_omim_620292 Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures MONDO:MONDO:0859531,MedGen:C5830365,OMIM:620292 8 8 1.0000 condition_record_support_limited 20 0 5 Neurodevelopmental_disorder_with_language_delay_and_behavioral_abnormalities,_with_or_without_seizures 16 low_record_burden_interpretation_limited low_record_burden_gene AGL mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 Glycogen storage disease MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 8 8 1.0000 condition_record_support_limited 20 0 7 Glycogen_storage_disease 624 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFF3 mondo_mondo_0851095_medgen_c5543317_omim_619297 KINSSHIP syndrome MONDO:MONDO:0851095,MedGen:C5543317,OMIM:619297 8 8 1.0000 condition_record_support_limited 20 0 3 KINSSHIP_syndrome 11 low_record_burden_interpretation_limited low_record_burden_gene ADNP human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 8 8 1.0000 condition_record_support_limited 20 0 5 Intellectual_disability 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRV1 mondo_mondo_0016484_medgen_c0339534_orphanet_231178 Usher syndrome type 2 MONDO:MONDO:0016484,MedGen:C0339534,Orphanet:231178 8 8 1.0000 condition_record_support_limited 20 0 4 Usher_syndrome_type_2 650 large_gene_or_donor_burden_stress_case donor_burden_stress ADGRL1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 8 8 1.0000 condition_record_support_limited 20 0 8 Global_developmental_delay 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTSL2 mondo_mondo_0011051_medgen_c1832435_omim_601356_orphanet_646136 Lethal short-limb skeletal dysplasia, Al Gazali type MONDO:MONDO:0011051,MedGen:C1832435,OMIM:601356,Orphanet:646136 8 8 1.0000 condition_record_support_limited 20 0 4 Lethal_short-limb_skeletal_dysplasia,_Al_Gazali_type 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTS13 mondo_mondo_0018896_medgen_c0034155_orphanet_54057 Thrombotic thrombocytopenic purpura MONDO:MONDO:0018896,MedGen:C0034155,Orphanet:54057 8 8 1.0000 condition_record_support_limited 20 0 5 Thrombotic_thrombocytopenic_purpura 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACY1 mondo_mondo_0012368_medgen_c1835922_omim_609924_orphanet_137754 Aminoacylase 1 deficiency MONDO:MONDO:0012368,MedGen:C1835922,OMIM:609924,Orphanet:137754 8 8 1.0000 condition_record_support_limited 20 0 1 Aminoacylase_1_deficiency 12 low_record_burden_interpretation_limited low_record_burden_gene ACADVL mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 8 8 1.0000 condition_record_support_limited 20 0 8 Inborn_genetic_diseases 513 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACADSB condition_not_provided condition not provided .|MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 8 See_cases|not_provided 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCD4 mondo_mondo_0010184_medgen_c1848561_omim_277400_orphanet_26_orphanet_79282 Cobalamin C disease MONDO:MONDO:0010184,MedGen:C1848561,OMIM:277400,Orphanet:26,Orphanet:79282 8 8 1.0000 condition_record_support_limited 20 0 3 Cobalamin_C_disease 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA7 condition_not_provided condition not provided MedGen:C3661900 8 8 1.0000 condition_record_support_limited 20 8 1 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene ZP2 mondo_mondo_0032696_medgen_c5193047_omim_618353 Oocyte maturation defect 6 MONDO:MONDO:0032696,MedGen:C5193047,OMIM:618353 7 7 1.0000 condition_record_support_limited 20 0 0 Oocyte_maturation_defect_6 8 low_record_burden_interpretation_limited low_record_burden_gene ZNRF3 znrf3_related_disorder ZNRF3-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 0 ZNRF3-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene ZNF808 mondo_mondo_0975839_medgen_c5975489_omim_620991 Pancreatic agenesis 3 MONDO:MONDO:0975839,MedGen:C5975489,OMIM:620991 7 7 1.0000 condition_record_support_limited 20 0 1 Pancreatic_agenesis_3 8 low_record_burden_interpretation_limited low_record_burden_gene ZNF711 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 4 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene ZNF462 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 84 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZNF341 mondo_mondo_0032654_medgen_c4748969_omim_618282_orphanet_641368 Hyper-IgE recurrent infection syndrome 3, autosomal recessive MONDO:MONDO:0032654,MedGen:C4748969,OMIM:618282,Orphanet:641368 7 7 1.0000 condition_record_support_limited 20 0 1 Hyper-IgE_recurrent_infection_syndrome_3,_autosomal_recessive 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF148 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 1 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZMYND15 mondo_mondo_0014366_medgen_c4014454_omim_615842 Spermatogenic failure 14 MONDO:MONDO:0014366,MedGen:C4014454,OMIM:615842 7 7 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_14 8 low_record_burden_interpretation_limited low_record_burden_gene ZMYM3 mondo_mondo_0957496_medgen_c5829589_omim_301111 Intellectual developmental disorder, X-linked 112 MONDO:MONDO:0957496,MedGen:C5829589,OMIM:301111 7 7 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder,_X-linked_112 12 low_record_burden_interpretation_limited low_record_burden_gene ZIC1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 3 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene ZFYVE19 mondo_mondo_0030800_medgen_c5676973_omim_619849 Cholestasis, progressive familial intrahepatic, 9 MONDO:MONDO:0030800,MedGen:C5676973,OMIM:619849 7 7 1.0000 condition_record_support_limited 20 0 0 Cholestasis,_progressive_familial_intrahepatic,_9 8 low_record_burden_interpretation_limited low_record_burden_gene ZFHX4 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 0 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene ZEB1 mondo_mondo_0012200_medgen_c1836724_omim_609141_orphanet_98973 Posterior polymorphous corneal dystrophy 3 MONDO:MONDO:0012200,MedGen:C1836724,OMIM:609141,Orphanet:98973 7 7 1.0000 condition_record_support_limited 20 0 2 Posterior_polymorphous_corneal_dystrophy_3 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZDHHC9 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 3 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB18 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZAP70 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 1 not_provided 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YIF1B mondo_mondo_0030878_medgen_c5436856_omim_619125_orphanet_684240 Kaya-Barakat-Masson syndrome MONDO:MONDO:0030878,MedGen:C5436856,OMIM:619125,Orphanet:684240 7 7 1.0000 condition_record_support_limited 20 0 3 Kaya-Barakat-Masson_syndrome 9 low_record_burden_interpretation_limited low_record_burden_gene YARS1 mondo_mondo_0030375_medgen_c5543623_omim_619418 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 MONDO:MONDO:0030375,MedGen:C5543623,OMIM:619418 7 7 1.0000 condition_record_support_limited 20 0 4 Neurologic,_endocrine,_and_pancreatic_disease,_multisystem,_infantile-onset_2 15 low_record_burden_interpretation_limited low_record_burden_gene YARS1 mondo_mondo_0012012_medgen_c1842237_omim_608323_orphanet_100045 Charcot-Marie-Tooth disease dominant intermediate C MONDO:MONDO:0012012,MedGen:C1842237,OMIM:608323,Orphanet:100045 7 7 1.0000 condition_record_support_limited 20 0 4 Charcot-Marie-Tooth_disease_dominant_intermediate_C 15 low_record_burden_interpretation_limited low_record_burden_gene XYLT2 mondo_mondo_0011604_medgen_c4225412_omim_605822_orphanet_85194 Spondylo-ocular syndrome MONDO:MONDO:0011604,MedGen:C4225412,OMIM:605822,Orphanet:85194 7 7 1.0000 condition_record_support_limited 20 0 2 Spondylo-ocular_syndrome 15 low_record_burden_interpretation_limited low_record_burden_gene WT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 153 compact_adjacent_exon_block_opportunity local_compact_architecture WNT7A mondo_mondo_0010164_medgen_c1848651_omim_276820_orphanet_2879 Schinzel phocomelia syndrome MONDO:MONDO:0010164,MedGen:C1848651,OMIM:276820,Orphanet:2879 7 7 1.0000 condition_record_support_limited 20 0 2 Schinzel_phocomelia_syndrome 9 low_record_burden_interpretation_limited low_record_burden_gene WFS1 human_phenotype_ontology_hp_0000819_human_phenotype_ontology_hp_0004908_human_phenotype_ontology_hp_0008217_human_phenotype_ontology_hp_0008234_human_phenotype_ontology_hp_0008260_mondo_mondo_0005015_medgen_c0011849 Diabetes mellitus Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849 7 7 1.0000 condition_record_support_limited 20 0 6 Diabetes_mellitus 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WEE2 mondo_mondo_0020837_medgen_c4693865_omim_617996 Oocyte maturation defect 5 MONDO:MONDO:0020837,MedGen:C4693865,OMIM:617996 7 7 1.0000 condition_record_support_limited 20 0 1 Oocyte_maturation_defect_5 8 low_record_burden_interpretation_limited low_record_burden_gene WDR35 wdr35_related_disorder WDR35-related disorder MedGen:CN239419 7 7 1.0000 condition_record_support_limited 20 0 4 WDR35-related_disorder 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR1 mondo_mondo_0007883_medgen_c0272174_omim_150550_orphanet_652522 Lazy leukocyte syndrome MONDO:MONDO:0007883,MedGen:C0272174,OMIM:150550,Orphanet:652522 7 7 1.0000 condition_record_support_limited 20 0 0 Lazy_leukocyte_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene VRK1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 7 Inborn_genetic_diseases 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VPS35L mondo_mondo_0030864_medgen_c5436883_omim_619135 Ritscher-Schinzel syndrome 3 MONDO:MONDO:0030864,MedGen:C5436883,OMIM:619135 7 7 1.0000 condition_record_support_limited 20 0 0 Ritscher-Schinzel_syndrome_3 7 low_record_burden_interpretation_limited low_record_burden_gene VPS33B vps33b_related_disorder VPS33B-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 4 VPS33B-related_disorder 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VHL vhl_related_disorder VHL-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 7 VHL-related_disorder 432 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control VAMP1 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 7 7 1.0000 condition_record_support_limited 20 0 4 Spastic_paraplegia 13 low_record_burden_interpretation_limited low_record_burden_gene VAC14 mondo_mondo_0014889_medgen_c4310743_omim_617054_orphanet_497906 Striatonigral degeneration, childhood-onset MONDO:MONDO:0014889,MedGen:C4310743,OMIM:617054,Orphanet:497906 7 7 1.0000 condition_record_support_limited 20 0 1 Striatonigral_degeneration,_childhood-onset 15 low_record_burden_interpretation_limited low_record_burden_gene USP9X usp9x_related_disorder USP9X-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 2 USP9X-related_disorder 128 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture USP9X mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 128 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture USP7 mondo_mondo_0958071_medgen_c5816734_omim_616863_orphanet_643538 Hao-Fountain syndrome due to USP7 mutation MONDO:MONDO:0958071,MedGen:C5816734,OMIM:616863,Orphanet:643538 7 7 1.0000 condition_record_support_limited 20 0 1 Hao-Fountain_syndrome_due_to_USP7_mutation 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USP27X mondo_mondo_0010510_medgen_c4310816_omim_300984 Intellectual disability, X-linked 105 MONDO:MONDO:0010510,MedGen:C4310816,OMIM:300984 7 7 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_X-linked_105 9 low_record_burden_interpretation_limited low_record_burden_gene USH2A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH1C ush1c_related_disorder USH1C-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 5 USH1C-related_disorder 199 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UROD urod_related_disorder UROD-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 6 UROD-related_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBR7 mondo_mondo_0030963_medgen_c5543068_omim_619189 Li-Campeau syndrome MONDO:MONDO:0030963,MedGen:C5543068,OMIM:619189 7 7 1.0000 condition_record_support_limited 20 0 0 Li-Campeau_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene UBE3A ube3a_related_disorder UBE3A-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 4 UBE3A-related_disorder 274 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBE2T condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 0 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene TYR ocular_albinism_with_congenital_sensorineural_hearing_loss Ocular albinism with congenital sensorineural hearing loss MedGen:CN028925 7 7 1.0000 condition_record_support_limited 20 0 7 Ocular_albinism_with_congenital_sensorineural_hearing_loss 311 compact_adjacent_exon_block_opportunity local_compact_architecture TYR mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 7 Inborn_genetic_diseases 311 compact_adjacent_exon_block_opportunity local_compact_architecture TYR albinism_or_congenital_nystagmus Albinism or congenital nystagmus . 7 7 1.0000 condition_record_support_limited 20 0 7 Albinism_or_congenital_nystagmus 311 compact_adjacent_exon_block_opportunity local_compact_architecture TWNK mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 7 7 1.0000 condition_record_support_limited 20 0 6 Mitochondrial_disease 82 compact_adjacent_exon_block_opportunity local_compact_architecture TUBB1 mondo_mondo_0800047_medgen_c5676892_omim_613112_orphanet_140957 Macrothrombocytopenia, isolated, 1, autosomal dominant MONDO:MONDO:0800047,MedGen:C5676892,OMIM:613112,Orphanet:140957 7 7 1.0000 condition_record_support_limited 20 0 1 Macrothrombocytopenia,_isolated,_1,_autosomal_dominant 17 low_record_burden_interpretation_limited low_record_burden_gene TUBA4A mondo_mondo_0014531_medgen_c4015512_omim_616208_orphanet_803 Amyotrophic lateral sclerosis type 22 MONDO:MONDO:0014531,MedGen:C4015512,OMIM:616208,Orphanet:803 7 7 1.0000 condition_record_support_limited 20 0 2 Amyotrophic_lateral_sclerosis_type_22 19 low_record_burden_interpretation_limited low_record_burden_gene TTR mondo_mondo_0007785_medgen_c2750824_omim_145680 Hyperthyroxinemia, dystransthyretinemic MONDO:MONDO:0007785,MedGen:C2750824,OMIM:145680 7 7 1.0000 condition_record_support_limited 20 0 7 Hyperthyroxinemia,_dystransthyretinemic 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTR mondo_mondo_0020730_medgen_c5779776_omim_115430 Carpal tunnel syndrome 1 MONDO:MONDO:0020730,MedGen:C5779776,OMIM:115430 7 7 1.0000 condition_record_support_limited 20 0 6 Carpal_tunnel_syndrome_1 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC7A mondo_mondo_0030831_medgen_c5234880_omim_ps243150 Gastrointestinal defect and immunodeficiency syndrome MONDO:MONDO:0030831,MedGen:C5234880,OMIM:PS243150 7 7 1.0000 condition_record_support_limited 20 0 5 Gastrointestinal_defect_and_immunodeficiency_syndrome 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC29 mondo_mondo_0032896_medgen_c5231488_omim_618745 Spermatogenic failure 42 MONDO:MONDO:0032896,MedGen:C5231488,OMIM:618745 7 7 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_42 11 low_record_burden_interpretation_limited low_record_burden_gene TTC21B ttc21b_related_disorder TTC21B-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 5 TTC21B-related_disorder 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSPAN1 pomgnt1_related_disorder POMGNT1-related disorder MedGen:CN239299 7 7 1.0000 condition_record_support_limited 20 0 7 POMGNT1-related_disorder 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSHR tshr_related_disorder TSHR-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 5 TSHR-related_disorder 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSHB condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 4 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene TRPM3 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 3 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene TRNT1 mondo_mondo_0014850_medgen_c4310776_omim_616959 Retinitis pigmentosa and erythrocytic microcytosis MONDO:MONDO:0014850,MedGen:C4310776,OMIM:616959 7 7 1.0000 condition_record_support_limited 20 0 7 Retinitis_pigmentosa_and_erythrocytic_microcytosis 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC2 mondo_mondo_0010737_medgen_c3541456_omim_313400 Spondyloepiphyseal dysplasia tarda, X-linked MONDO:MONDO:0010737,MedGen:C3541456,OMIM:313400 7 7 1.0000 condition_record_support_limited 20 0 1 Spondyloepiphyseal_dysplasia_tarda,_X-linked 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP53 mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 7 7 1.0000 condition_record_support_limited 20 0 6 Malignant_tumor_of_breast 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TNR non_progressive_neurodevelopmental_disorder_with_spasticity_and_transient_opisthotonus Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus . 7 7 1.0000 condition_record_support_limited 20 0 7 Non-progressive_neurodevelopmental_disorder_with_spasticity_and_transient_opisthotonus 13 low_record_burden_interpretation_limited low_record_burden_gene TNNT1 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 4 not_provided 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNC1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 3 not_provided|not_specified 12 low_record_burden_interpretation_limited low_record_burden_gene TNNC1 mondo_mondo_0012745_medgen_c2678475_omim_611879_orphanet_154 Dilated cardiomyopathy 1Z MONDO:MONDO:0012745,MedGen:C2678475,OMIM:611879,Orphanet:154 7 7 1.0000 condition_record_support_limited 20 0 4 Dilated_cardiomyopathy_1Z 12 low_record_burden_interpretation_limited low_record_burden_gene TNFRSF13B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 7 7 1.0000 condition_record_support_limited 20 7 7 not_provided|not_specified 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMPRSS3 tmprss3_related_disorder TMPRSS3-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 7 TMPRSS3-related_disorder 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMPRSS3 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 7 7 1.0000 condition_record_support_limited 20 0 6 Hearing_loss,_autosomal_recessive 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMCO1 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 4 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene TMC1 mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 7 7 1.0000 condition_record_support_limited 20 0 5 Nonsyndromic_genetic_hearing_loss 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture THUMPD1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 7 7 1.0000 condition_record_support_limited 20 0 4 Neurodevelopmental_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene THSD4 mondo_mondo_0030731_medgen_c5676959_omim_619825 Aortic aneurysm, familial thoracic 12 MONDO:MONDO:0030731,MedGen:C5676959,OMIM:619825 7 7 1.0000 condition_record_support_limited 20 0 0 Aortic_aneurysm,_familial_thoracic_12 9 low_record_burden_interpretation_limited low_record_burden_gene THRB mondo_mondo_0007784_medgen_c1840364_omim_145650 Selective pituitary resistance to thyroid hormone MONDO:MONDO:0007784,MedGen:C1840364,OMIM:145650 7 7 1.0000 condition_record_support_limited 20 0 4 Selective_pituitary_resistance_to_thyroid_hormone 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture THRA condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 2 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene THBD mondo_mondo_0013775_medgen_c3280976_omim_614486_orphanet_436169 Thrombomodulin-related bleeding disorder MONDO:MONDO:0013775,MedGen:C3280976,OMIM:614486,Orphanet:436169 7 7 1.0000 condition_record_support_limited 20 0 5 Thrombomodulin-related_bleeding_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene TGM1 tgm1_related_disorder TGM1-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 7 TGM1-related_disorder 297 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGIF1 mondo_mondo_0007734_medgen_c1840528_omim_142946_orphanet_2162 Holoprosencephaly 4 MONDO:MONDO:0007734,MedGen:C1840528,OMIM:142946,Orphanet:2162 7 7 1.0000 condition_record_support_limited 20 0 1 Holoprosencephaly_4 11 low_record_burden_interpretation_limited low_record_burden_gene TFAP2A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 7 Inborn_genetic_diseases 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TEX11 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 7 7 1.0000 condition_record_support_limited 20 0 0 Non-obstructive_azoospermia 13 low_record_burden_interpretation_limited low_record_burden_gene TENM3 mondo_mondo_0014059_medgen_c3554592_omim_615145_orphanet_98938 Microphthalmia, isolated, with coloboma 9 MONDO:MONDO:0014059,MedGen:C3554592,OMIM:615145,Orphanet:98938 7 7 1.0000 condition_record_support_limited 20 0 2 Microphthalmia,_isolated,_with_coloboma_9 10 low_record_burden_interpretation_limited low_record_burden_gene TCTN1 mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 7 7 1.0000 condition_record_support_limited 20 0 3 Joubert_syndrome_and_related_disorders 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCN1 mondo_mondo_0008659_medgen_c0342700_omim_193090_orphanet_2967 Transcobalamin I deficiency MONDO:MONDO:0008659,MedGen:C0342700,OMIM:193090,Orphanet:2967 7 7 1.0000 condition_record_support_limited 20 0 0 Transcobalamin_I_deficiency 7 low_record_burden_interpretation_limited low_record_burden_gene TCAP cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 7 7 1.0000 condition_record_support_limited 20 0 4 Cardiovascular_phenotype 35 compact_adjacent_exon_block_opportunity local_compact_architecture TBX1 mondo_mondo_0008644_medgen_c0220704_omim_192430_orphanet_567 Velocardiofacial syndrome MONDO:MONDO:0008644,MedGen:C0220704,OMIM:192430,Orphanet:567 7 7 1.0000 condition_record_support_limited 20 0 5 Velocardiofacial_syndrome 56 compact_adjacent_exon_block_opportunity local_compact_architecture TBC1D32 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 1 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene TBC1D24 tbc1d24_related_disorder TBC1D24-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 6 TBC1D24-related_disorder 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TARDBP tardbp_related_disorder TARDBP-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 7 TARDBP-related_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAPBPL human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 7 7 1.0000 condition_record_support_limited 20 0 4 Spastic_paraplegia 13 low_record_burden_interpretation_limited low_record_burden_gene TACR3 mondo_mondo_0013913_medgen_c3553844_omim_614840_orphanet_478 Hypogonadotropic hypogonadism 11 with or without anosmia MONDO:MONDO:0013913,MedGen:C3553844,OMIM:614840,Orphanet:478 7 7 1.0000 condition_record_support_limited 20 0 5 Hypogonadotropic_hypogonadism_11_with_or_without_anosmia 18 low_record_burden_interpretation_limited low_record_burden_gene TACO1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 3 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene SZT2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 188 large_gene_or_donor_burden_stress_case donor_burden_stress SYNE2 mondo_mondo_0013072_medgen_c2751805_omim_612999_orphanet_261 Emery-Dreifuss muscular dystrophy 5, autosomal dominant MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261 7 7 1.0000 condition_record_support_limited 20 0 0 Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant 10 low_record_burden_interpretation_limited low_record_burden_gene SUN5 mondo_mondo_0014961_medgen_c4310674_omim_617187 Spermatogenic failure 16 MONDO:MONDO:0014961,MedGen:C4310674,OMIM:617187 7 7 1.0000 condition_record_support_limited 20 0 2 Spermatogenic_failure_16 7 low_record_burden_interpretation_limited low_record_burden_gene SULT2B1 mondo_mondo_0033091_medgen_c4539754_omim_617571 Ichthyosis, congenital, autosomal recessive 14 MONDO:MONDO:0033091,MedGen:C4539754,OMIM:617571 7 7 1.0000 condition_record_support_limited 20 0 4 Ichthyosis,_congenital,_autosomal_recessive_14 7 low_record_burden_interpretation_limited low_record_burden_gene STX1B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 3 not_provided 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ST3GAL5 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 5 not_provided 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ST3GAL3 mondo_mondo_0014003_medgen_c3554316_omim_615006_orphanet_3451 Developmental and epileptic encephalopathy, 15 MONDO:MONDO:0014003,MedGen:C3554316,OMIM:615006,Orphanet:3451 7 7 1.0000 condition_record_support_limited 20 0 3 Developmental_and_epileptic_encephalopathy,_15 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ST14 mondo_mondo_0011218_medgen_c1835851_omim_602400_orphanet_91132 Autosomal recessive congenital ichthyosis 11 MONDO:MONDO:0011218,MedGen:C1835851,OMIM:602400,Orphanet:91132 7 7 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_congenital_ichthyosis_11 15 low_record_burden_interpretation_limited low_record_burden_gene SRSF1 mondo_mondo_0957583_medgen_c5882684_omim_620489 Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities MONDO:MONDO:0957583,MedGen:C5882684,OMIM:620489 7 7 1.0000 condition_record_support_limited 20 0 4 Neurodevelopmental_disorder_with_dysmorphic_facies_and_behavioral_abnormalities 15 low_record_burden_interpretation_limited low_record_burden_gene SPTLC2 mondo_mondo_0013337_medgen_c3150896_omim_613640_orphanet_36386 Neuropathy, hereditary sensory and autonomic, type 1C MONDO:MONDO:0013337,MedGen:C3150896,OMIM:613640,Orphanet:36386 7 7 1.0000 condition_record_support_limited 20 0 3 Neuropathy,_hereditary_sensory_and_autonomic,_type_1C 10 low_record_burden_interpretation_limited low_record_burden_gene SPTLC1 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 7 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene SPTLC1 mondo_mondo_0859529_medgen_c5830359_omim_620285 Amyotrophic lateral sclerosis 27, juvenile MONDO:MONDO:0859529,MedGen:C5830359,OMIM:620285 7 7 1.0000 condition_record_support_limited 20 0 6 Amyotrophic_lateral_sclerosis_27,_juvenile 14 low_record_burden_interpretation_limited low_record_burden_gene SPI1 mondo_mondo_0030529_medgen_c5676900_omim_619707 Agammaglobulinemia 10, autosomal dominant MONDO:MONDO:0030529,MedGen:C5676900,OMIM:619707 7 7 1.0000 condition_record_support_limited 20 0 6 Agammaglobulinemia_10,_autosomal_dominant 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPECC1L mondo_mondo_0800025_medgen_cn306405_omim_145420_orphanet_1519 Teebi hypertelorism syndrome 1 MONDO:MONDO:0800025,MedGen:CN306405,OMIM:145420,Orphanet:1519 7 7 1.0000 condition_record_support_limited 20 0 5 Teebi_hypertelorism_syndrome_1 14 low_record_burden_interpretation_limited low_record_burden_gene SP110 medgen_c1834752_omim_607948 Mycobacterium tuberculosis, susceptibility to MedGen:C1834752,OMIM:607948 7 7 1.0000 condition_record_support_limited 20 0 7 Mycobacterium_tuberculosis,_susceptibility_to 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX11 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 84 single_exon_hotspot_opportunity local_compact_architecture SOX10 waardenburg_syndrome_type_2e_without_neurologic_involvement Waardenburg syndrome type 2E, without neurologic involvement MedGen:CN069052 7 7 1.0000 condition_record_support_limited 20 0 0 Waardenburg_syndrome_type_2E,_without_neurologic_involvement 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNX22 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 4 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene SNRNP200 mondo_mondo_0012477_medgen_c1835895_omim_610359_orphanet_791 Retinitis pigmentosa 33 MONDO:MONDO:0012477,MedGen:C1835895,OMIM:610359,Orphanet:791 7 7 1.0000 condition_record_support_limited 20 0 4 Retinitis_pigmentosa_33 17 low_record_burden_interpretation_limited low_record_burden_gene SMC3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCD1 mondo_mondo_0032912_medgen_c5241442_omim_618779 Coffin-Siris syndrome 11 MONDO:MONDO:0032912,MedGen:C5241442,OMIM:618779 7 7 1.0000 condition_record_support_limited 20 0 1 Coffin-Siris_syndrome_11 9 low_record_burden_interpretation_limited low_record_burden_gene SMARCB1 mondo_mondo_0015452_medgen_c0265338_omim_ps135900_orphanet_1465 Coffin-Siris syndrome MONDO:MONDO:0015452,MedGen:C0265338,OMIM:PS135900,Orphanet:1465 7 7 1.0000 condition_record_support_limited 20 0 4 Coffin-Siris_syndrome 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA4 smarca4_related_bafopathy SMARCA4-related BAFopathy . 7 7 1.0000 condition_record_support_limited 20 0 4 SMARCA4-related_BAFopathy 321 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA2 smarca2_related_bafopathy SMARCA2-related BAFopathy . 7 7 1.0000 condition_record_support_limited 20 0 6 SMARCA2-related_BAFopathy 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD4 mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 Carcinoma of pancreas MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 7 7 1.0000 condition_record_support_limited 20 0 3 Carcinoma_of_pancreas 300 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SMAD2 mondo_mondo_0859213_medgen_c5562042_omim_619657 Congenital heart defects, multiple types, 8, with or without heterotaxy MONDO:MONDO:0859213,MedGen:C5562042,OMIM:619657 7 7 1.0000 condition_record_support_limited 20 0 4 Congenital_heart_defects,_multiple_types,_8,_with_or_without_heterotaxy 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLURP1 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 4 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene SLCO1B1 mondo_mondo_0009379_medgen_c0220991_omim_237450_orphanet_3111 Rotor syndrome MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111 7 7 1.0000 condition_record_support_limited 20 0 2 Rotor_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene SLC6A8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC4A1 mondo_mondo_1060161_medgen_cn380239_omim_ps179800 Inherited distal renal tubular acidosis MONDO:MONDO:1060161,MedGen:CN380239,OMIM:PS179800 7 7 1.0000 condition_record_support_limited 20 0 0 Inherited_distal_renal_tubular_acidosis 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC39A8 mondo_mondo_0014746_medgen_c4225234_omim_616721_orphanet_468699 SLC39A8-CDG MONDO:MONDO:0014746,MedGen:C4225234,OMIM:616721,Orphanet:468699 7 7 1.0000 condition_record_support_limited 20 0 2 SLC39A8-CDG 9 low_record_burden_interpretation_limited low_record_burden_gene SLC38A3 mondo_mondo_0030881_medgen_c5676991_omim_619881 Developmental and epileptic encephalopathy 102 MONDO:MONDO:0030881,MedGen:C5676991,OMIM:619881 7 7 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy_102 7 low_record_burden_interpretation_limited low_record_burden_gene SLC34A2 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 0 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene SLC33A1 mondo_mondo_0013772_medgen_c4751114_omim_614482_orphanet_300313 Huppke-Brendel syndrome MONDO:MONDO:0013772,MedGen:C4751114,OMIM:614482,Orphanet:300313 7 7 1.0000 condition_record_support_limited 20 0 2 Huppke-Brendel_syndrome 10 low_record_burden_interpretation_limited low_record_burden_gene SLC26A4 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 7 7 1.0000 condition_record_support_limited 20 0 6 Hearing_impairment 631 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC18A2 mondo_mondo_0018130_medgen_c4303546_omim_618049_orphanet_352649 Brain dopamine-serotonin vesicular transport disease MONDO:MONDO:0018130,MedGen:C4303546,OMIM:618049,Orphanet:352649 7 7 1.0000 condition_record_support_limited 20 0 2 Brain_dopamine-serotonin_vesicular_transport_disease 13 low_record_burden_interpretation_limited low_record_burden_gene SLC16A1 mondo_mondo_0014490_medgen_c4015186_omim_616095_orphanet_438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency MONDO:MONDO:0014490,MedGen:C4015186,OMIM:616095,Orphanet:438075 7 7 1.0000 condition_record_support_limited 20 0 3 Ketoacidosis_due_to_monocarboxylate_transporter-1_deficiency 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A2 mondo_mondo_0033665_medgen_c5436768_omim_619081 Hearing loss, autosomal dominant 78 MONDO:MONDO:0033665,MedGen:C5436768,OMIM:619081 7 7 1.0000 condition_record_support_limited 20 0 4 Hearing_loss,_autosomal_dominant_78 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC11A2 mondo_mondo_0008787_medgen_c3806153_omim_206100_orphanet_83642 Microcytic anemia with liver iron overload MONDO:MONDO:0008787,MedGen:C3806153,OMIM:206100,Orphanet:83642 7 7 1.0000 condition_record_support_limited 20 0 1 Microcytic_anemia_with_liver_iron_overload 8 low_record_burden_interpretation_limited low_record_burden_gene SHANK1 condition_not_provided condition not provided .|MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 3 See_cases|not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene SH3PXD2B mondo_mondo_0009579_medgen_c1855305_omim_249420_orphanet_1266_orphanet_137834 Frank-Ter Haar syndrome MONDO:MONDO:0009579,MedGen:C1855305,OMIM:249420,Orphanet:1266,Orphanet:137834 7 7 1.0000 condition_record_support_limited 20 0 1 Frank-Ter_Haar_syndrome 16 low_record_burden_interpretation_limited low_record_burden_gene SGSH sgsh_related_disorder SGSH-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 7 SGSH-related_disorder 210 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SFRP4 mondo_mondo_0009943_medgen_c0265294_omim_265900_orphanet_3005 Pyle metaphyseal dysplasia MONDO:MONDO:0009943,MedGen:C0265294,OMIM:265900,Orphanet:3005 7 7 1.0000 condition_record_support_limited 20 0 0 Pyle_metaphyseal_dysplasia 15 low_record_burden_interpretation_limited low_record_burden_gene SETX setx_related_disorder SETX-related disorder MedGen:CN239403 7 7 1.0000 condition_record_support_limited 20 0 5 SETX-related_disorder 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 68 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SERPING1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 374 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINC1 serpinc1_related_disorder SERPINC1-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 4 SERPINC1-related_disorder 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINB7 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 4 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene SDHAF1 mondo_mondo_0030935_medgen_c5436933_omim_619166 Mitochondrial complex 2 deficiency, nuclear type 2 MONDO:MONDO:0030935,MedGen:C5436933,OMIM:619166 7 7 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_complex_2_deficiency,_nuclear_type_2 7 low_record_burden_interpretation_limited low_record_burden_gene SCUBE3 mondo_mondo_0030953_medgen_c5543057_omim_619184 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:MONDO:0030953,MedGen:C5543057,OMIM:619184 7 7 1.0000 condition_record_support_limited 20 0 4 Short_stature,_facial_dysmorphism,_and_skeletal_anomalies_with_or_without_cardiac_anomalies_2 11 low_record_burden_interpretation_limited low_record_burden_gene SCUBE3 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 7 7 1.0000 condition_record_support_limited 20 0 7 Short_stature 11 low_record_burden_interpretation_limited low_record_burden_gene SCUBE3 human_phenotype_ontology_hp_0000924_medgen_c4021790 Abnormality of the skeletal system Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 7 7 1.0000 condition_record_support_limited 20 0 7 Abnormality_of_the_skeletal_system 11 low_record_burden_interpretation_limited low_record_burden_gene SCUBE3 human_phenotype_ontology_hp_0000164_human_phenotype_ontology_hp_0001567_human_phenotype_ontology_hp_0006296_human_phenotype_ontology_hp_0006348_medgen_c0262444 Abnormality of the dentition Human_Phenotype_Ontology:HP:0000164,Human_Phenotype_Ontology:HP:0001567,Human_Phenotype_Ontology:HP:0006296,Human_Phenotype_Ontology:HP:0006348,MedGen:C0262444 7 7 1.0000 condition_record_support_limited 20 0 7 Abnormality_of_the_dentition 11 low_record_burden_interpretation_limited low_record_burden_gene SCUBE3 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 7 7 1.0000 condition_record_support_limited 20 0 7 Abnormal_facial_shape 11 low_record_burden_interpretation_limited low_record_burden_gene SCN9A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A mondo_mondo_0100092_medgen_c5193056_omim_618364 Myoclonus, familial, 2 MONDO:MONDO:0100092,MedGen:C5193056,OMIM:618364 7 7 1.0000 condition_record_support_limited 20 0 6 Myoclonus,_familial,_2 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 7 7 1.0000 condition_record_support_limited 20 0 6 Epileptic_encephalopathy 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 7 7 1.0000 condition_record_support_limited 20 0 7 Long_QT_syndrome 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1B mondo_mondo_0033361_medgen_c4479236_omim_617350 Developmental and epileptic encephalopathy, 52 MONDO:MONDO:0033361,MedGen:C4479236,OMIM:617350 7 7 1.0000 condition_record_support_limited 20 0 4 Developmental_and_epileptic_encephalopathy,_52 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 7 7 1.0000 condition_record_support_limited 20 7 3 not_provided|not_specified 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SALL1 sall1_related_disorder SALL1-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 2 SALL1-related_disorder 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SAG mondo_mondo_0019152_medgen_c1306122_orphanet_75382 Oguchi disease MONDO:MONDO:0019152,MedGen:C1306122,Orphanet:75382 7 7 1.0000 condition_record_support_limited 20 0 5 Oguchi_disease 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SACS sacs_related_disorder SACS-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 5 SACS-related_disorder 990 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RYR1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 7 7 1.0000 condition_record_support_limited 20 0 7 Fetal_akinesia_deformation_sequence_1 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 7 7 1.0000 condition_record_support_limited 20 0 5 Abnormality_of_the_musculature 770 large_gene_or_donor_burden_stress_case donor_burden_stress RUNX2 runx2_related_disorder RUNX2-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 3 RUNX2-related_disorder 166 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL15 mondo_mondo_0014245_medgen_c3809888_omim_615550_orphanet_124 Diamond-Blackfan anemia 12 MONDO:MONDO:0014245,MedGen:C3809888,OMIM:615550,Orphanet:124 7 7 1.0000 condition_record_support_limited 20 0 1 Diamond-Blackfan_anemia_12 12 low_record_burden_interpretation_limited low_record_burden_gene ROBO3 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 2 not_provided 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNASEH2A condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 6 not_provided 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNASE4 mondo_mondo_0012753_medgen_c2678468_omim_611895_orphanet_803 Amyotrophic lateral sclerosis type 9 MONDO:MONDO:0012753,MedGen:C2678468,OMIM:611895,Orphanet:803 7 7 1.0000 condition_record_support_limited 20 0 0 Amyotrophic_lateral_sclerosis_type_9 7 low_record_burden_interpretation_limited low_record_burden_gene RLBP1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 7 7 1.0000 condition_record_support_limited 20 0 7 Retinal_dystrophy 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RHO rho_related_disorder RHO-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 7 RHO-related_disorder 198 compact_adjacent_exon_block_opportunity local_compact_architecture RHAG condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 2 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene RFC1 mondo_mondo_0044720_medgen_c3281223_omim_614575_orphanet_504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome MONDO:MONDO:0044720,MedGen:C3281223,OMIM:614575,Orphanet:504476 7 7 1.0000 condition_record_support_limited 20 0 0 Cerebellar_ataxia_with_neuropathy_and_bilateral_vestibular_areflexia_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene RDH5 medgen_c4016746 Fundus albipunctatus, autosomal recessive MedGen:C4016746 7 7 1.0000 condition_record_support_limited 20 0 6 Fundus_albipunctatus,_autosomal_recessive 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RDH11 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 2 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene RBP4 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 0 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene RBP3 mondo_mondo_0014093_medgen_c3715216_omim_615233_orphanet_791 Retinitis pigmentosa 66 MONDO:MONDO:0014093,MedGen:C3715216,OMIM:615233,Orphanet:791 7 7 1.0000 condition_record_support_limited 20 0 4 Retinitis_pigmentosa_66 41 compact_adjacent_exon_block_opportunity local_compact_architecture RBP3 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 7 7 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 41 compact_adjacent_exon_block_opportunity local_compact_architecture RBMX rbmx_related_disorder RBMX-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 0 RBMX-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene RB1 mondo_mondo_0002629_medgen_c0585442_omim_259500_orphanet_668 Bone osteosarcoma MONDO:MONDO:0002629,MedGen:C0585442,OMIM:259500,Orphanet:668 7 7 1.0000 condition_record_support_limited 20 0 7 Bone_osteosarcoma 947 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAF1 mondo_mondo_0014396_medgen_c4014656_omim_615916_orphanet_154 Dilated cardiomyopathy 1NN MONDO:MONDO:0014396,MedGen:C4014656,OMIM:615916,Orphanet:154 7 7 1.0000 condition_record_support_limited 20 0 6 Dilated_cardiomyopathy_1NN 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD9B human_phenotype_ontology_hp_0045005_mondo_mondo_0018075_medgen_c0027794_orphanet_3388_orphanet_823 Neural tube defect Human_Phenotype_Ontology:HP:0045005,MONDO:MONDO:0018075,MedGen:C0027794,Orphanet:3388,Orphanet:823 7 7 1.0000 condition_record_support_limited 20 0 0 Neural_tube_defect 7 low_record_burden_interpretation_limited low_record_burden_gene RAD51C human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 7 7 1.0000 condition_record_support_limited 20 0 5 Gastric_cancer 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAB3GAP1 rab3gap1_related_disorder RAB3GAP1-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 5 RAB3GAP1-related_disorder 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB33A mondo_mondo_0010437_medgen_c3151753_omim_300816_orphanet_238329 Severe X-linked mitochondrial encephalomyopathy MONDO:MONDO:0010437,MedGen:C3151753,OMIM:300816,Orphanet:238329 7 7 1.0000 condition_record_support_limited 20 0 2 Severe_X-linked_mitochondrial_encephalomyopathy 47 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RAB18 mondo_mondo_0013638_medgen_c3280203_omim_614222_orphanet_2510 Warburg micro syndrome 3 MONDO:MONDO:0013638,MedGen:C3280203,OMIM:614222,Orphanet:2510 7 7 1.0000 condition_record_support_limited 20 0 0 Warburg_micro_syndrome_3 9 low_record_burden_interpretation_limited low_record_burden_gene QRSL1 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 1 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene QRICH2 mondo_mondo_0032686_medgen_c5193038_omim_618341 Spermatogenic failure 35 MONDO:MONDO:0032686,MedGen:C5193038,OMIM:618341 7 7 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_35 10 low_record_burden_interpretation_limited low_record_burden_gene QDPR condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 4 not_provided 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYCR1 wiedemann_rautenstrauch_like_progeroid_syndrome Wiedemann-Rautenstrauch-like progeroid syndrome . 7 7 1.0000 condition_record_support_limited 20 0 5 Wiedemann-Rautenstrauch-like_progeroid_syndrome 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUM1 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 1 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTCH1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 736 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTBP1 mondo_mondo_0980973_medgen_cn380859_omim_621495 STAD syndrome MONDO:MONDO:0980973,MedGen:CN380859,OMIM:621495 7 7 1.0000 condition_record_support_limited 20 0 7 STAD_syndrome 9 low_record_burden_interpretation_limited low_record_burden_gene PSMB8 mondo_mondo_0054698_medgen_c4746851_omim_256040_orphanet_2615_orphanet_324977_orphanet_324999_orphanet_325004 Proteasome-associated autoinflammatory syndrome 1 MONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040,Orphanet:2615,Orphanet:324977,Orphanet:324999,Orphanet:325004 7 7 1.0000 condition_record_support_limited 20 0 2 Proteasome-associated_autoinflammatory_syndrome_1 21 compact_adjacent_exon_block_opportunity local_compact_architecture PSENEN mondo_mondo_0013397_medgen_c3151037_omim_613736 Acne inversa, familial, 2 MONDO:MONDO:0013397,MedGen:C3151037,OMIM:613736 7 7 1.0000 condition_record_support_limited 20 0 0 Acne_inversa,_familial,_2 7 low_record_burden_interpretation_limited low_record_burden_gene PRPH2 human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 7 7 1.0000 condition_record_support_limited 20 0 7 Macular_dystrophy 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRPH2 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 7 7 1.0000 condition_record_support_limited 20 0 7 Cone-rod_dystrophy 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRNP condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 7 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRNP mondo_mondo_0011703_medgen_c1847650_omim_606688 Spongiform encephalopathy with neuropsychiatric features MONDO:MONDO:0011703,MedGen:C1847650,OMIM:606688 7 7 1.0000 condition_record_support_limited 20 0 6 Spongiform_encephalopathy_with_neuropsychiatric_features 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAG2 mondo_mondo_0010946_medgen_c1833236_omim_600858 Hypertrophic cardiomyopathy 6 MONDO:MONDO:0010946,MedGen:C1833236,OMIM:600858 7 7 1.0000 condition_record_support_limited 20 0 4 Hypertrophic_cardiomyopathy_6 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRF1 mondo_mondo_0019751_medgen_c3890737_orphanet_93665 Autoinflammatory syndrome MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 7 7 1.0000 condition_record_support_limited 20 0 5 Autoinflammatory_syndrome 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRDX3 mondo_mondo_0859245_medgen_c5676978_omim_619862 Spinocerebellar ataxia, autosomal recessive 32 MONDO:MONDO:0859245,MedGen:C5676978,OMIM:619862 7 7 1.0000 condition_record_support_limited 20 0 1 Spinocerebellar_ataxia,_autosomal_recessive_32 10 low_record_burden_interpretation_limited low_record_burden_gene PRDM16 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 2 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene PPA2 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 4 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene POU4F1 mondo_mondo_0859158_medgen_c5543478_omim_619352 Ataxia, intention tremor, and hypotonia syndrome, childhood-onset MONDO:MONDO:0859158,MedGen:C5543478,OMIM:619352 7 7 1.0000 condition_record_support_limited 20 0 2 Ataxia,_intention_tremor,_and_hypotonia_syndrome,_childhood-onset 8 low_record_burden_interpretation_limited low_record_burden_gene POU3F4 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 7 7 1.0000 condition_record_support_limited 20 0 5 Rare_genetic_deafness 107 single_exon_hotspot_opportunity local_compact_architecture POMT2 mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 Autosomal recessive limb-girdle muscular dystrophy MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 7 7 1.0000 condition_record_support_limited 20 0 6 Autosomal_recessive_limb-girdle_muscular_dystrophy 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMGNT1 pomgnt1_related_disorder POMGNT1-related disorder MedGen:CN239299 7 7 1.0000 condition_record_support_limited 20 0 7 POMGNT1-related_disorder 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3H mondo_mondo_0013802_medgen_c3281192_omim_614559_orphanet_313850 Infantile cerebellar-retinal degeneration MONDO:MONDO:0013802,MedGen:C3281192,OMIM:614559,Orphanet:313850 7 7 1.0000 condition_record_support_limited 20 0 1 Infantile_cerebellar-retinal_degeneration 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3A mondo_mondo_0100605_medgen_c5679947_orphanet_289494 POLR-related leukodystrophy MONDO:MONDO:0100605,MedGen:C5679947,Orphanet:289494 7 7 1.0000 condition_record_support_limited 20 0 6 POLR-related_leukodystrophy 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR2F waardenburg_syndrome_type_2e_without_neurologic_involvement Waardenburg syndrome type 2E, without neurologic involvement MedGen:CN069052 7 7 1.0000 condition_record_support_limited 20 0 0 Waardenburg_syndrome_type_2E,_without_neurologic_involvement 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG2 mondo_mondo_0012415_medgen_c1864668_omim_610131 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MONDO:MONDO:0012415,MedGen:C1864668,OMIM:610131 7 7 1.0000 condition_record_support_limited 20 0 2 Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_4 33 compact_adjacent_exon_block_opportunity local_compact_architecture POLE mondo_mondo_0014058_medgen_c3554576_omim_615139_orphanet_352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome MONDO:MONDO:0014058,MedGen:C3554576,OMIM:615139,Orphanet:352712 7 7 1.0000 condition_record_support_limited 20 0 3 Facial_dysmorphism-immunodeficiency-livedo-short_stature_syndrome 487 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PNPT1 mondo_mondo_0012103_medgen_c1837518_omim_608703_orphanet_101111 Spinocerebellar ataxia type 25 MONDO:MONDO:0012103,MedGen:C1837518,OMIM:608703,Orphanet:101111 7 7 1.0000 condition_record_support_limited 20 0 2 Spinocerebellar_ataxia_type_25 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPT1 pnpt1_related_disorder PNPT1-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 4 PNPT1-related_disorder 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA6 mondo_mondo_0010152_medgen_c1848745_omim_275400_orphanet_3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome MONDO:MONDO:0010152,MedGen:C1848745,OMIM:275400,Orphanet:3363 7 7 1.0000 condition_record_support_limited 20 0 7 Trichomegaly-retina_pigmentary_degeneration-dwarfism_syndrome 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNLDC1 mondo_mondo_0030439_medgen_c5561988_omim_619528 Spermatogenic failure 57 MONDO:MONDO:0030439,MedGen:C5561988,OMIM:619528 7 7 1.0000 condition_record_support_limited 20 0 3 Spermatogenic_failure_57 9 low_record_burden_interpretation_limited low_record_burden_gene PNKP mondo_mondo_0011570_medgen_c1854150_omim_605589_orphanet_101101 Charcot-Marie-Tooth disease type 2B2 MONDO:MONDO:0011570,MedGen:C1854150,OMIM:605589,Orphanet:101101 7 7 1.0000 condition_record_support_limited 20 0 4 Charcot-Marie-Tooth_disease_type_2B2 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMPCA mondo_mondo_0008943_medgen_c1859298_omim_213200_orphanet_1170 Autosomal recessive spinocerebellar ataxia 2 MONDO:MONDO:0008943,MedGen:C1859298,OMIM:213200,Orphanet:1170 7 7 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_spinocerebellar_ataxia_2 12 low_record_burden_interpretation_limited low_record_burden_gene PLIN1 mondo_mondo_0013478_medgen_c5191005_omim_613877_orphanet_280356 PLIN1-related familial partial lipodystrophy MONDO:MONDO:0013478,MedGen:C5191005,OMIM:613877,Orphanet:280356 7 7 1.0000 condition_record_support_limited 20 0 0 PLIN1-related_familial_partial_lipodystrophy 7 low_record_burden_interpretation_limited low_record_burden_gene PLG mondo_mondo_0025712_medgen_c5543503_omim_619360 Angioedema, hereditary, 4 MONDO:MONDO:0025712,MedGen:C5543503,OMIM:619360 7 7 1.0000 condition_record_support_limited 20 0 7 Angioedema,_hereditary,_4 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKP2 pkp2_related_disorder PKP2-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 7 PKP2-related_disorder 344 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKHD1L1 mondo_mondo_0968981_medgen_c5935612_omim_620794 Autosomal recessive nonsyndromic hearing loss 124 MONDO:MONDO:0968981,MedGen:C5935612,OMIM:620794 7 7 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_nonsyndromic_hearing_loss_124 7 low_record_burden_interpretation_limited low_record_burden_gene PKHD1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PISD condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 0 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene PIKFYVE condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 0 not_provided 24 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PIK3CA mondo_mondo_0100283_medgen_cn300503 Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes MONDO:MONDO:0100283,MedGen:CN300503 7 7 1.0000 condition_record_support_limited 20 0 7 Overgrowth_syndrome_and/or_cerebral_malformations_due_to_abnormalities_in_MTOR_pathway_genes 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0030358_mondo_mondo_0005233_mesh_d002289_medgen_c0007131 Non-small cell lung carcinoma Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131 7 7 1.0000 condition_record_support_limited 20 0 6 Non-small_cell_lung_carcinoma 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0007864_mesh_d007715_medgen_c0022739_omim_149000_orphanet_2346 Angioosteohypertrophic syndrome MONDO:MONDO:0007864,MeSH:D007715,MedGen:C0022739,OMIM:149000,Orphanet:2346 7 7 1.0000 condition_record_support_limited 20 0 7 Angioosteohypertrophic_syndrome 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3C2A mondo_mondo_0034145_medgen_c5193101_omim_618440_orphanet_557003 Oculocerebrodental syndrome MONDO:MONDO:0034145,MedGen:C5193101,OMIM:618440,Orphanet:557003 7 7 1.0000 condition_record_support_limited 20 0 2 Oculocerebrodental_syndrome 30 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PIGV mondo_mondo_0009398_medgen_c4551502_omim_239300_orphanet_247262 Hyperphosphatasia with intellectual disability syndrome 1 MONDO:MONDO:0009398,MedGen:C4551502,OMIM:239300,Orphanet:247262 7 7 1.0000 condition_record_support_limited 20 0 3 Hyperphosphatasia_with_intellectual_disability_syndrome_1 9 low_record_burden_interpretation_limited low_record_burden_gene PIGC mondo_mondo_0040500_medgen_c4540521_omim_617816 Glycosylphosphatidylinositol biosynthesis defect 16 MONDO:MONDO:0040500,MedGen:C4540521,OMIM:617816 7 7 1.0000 condition_record_support_limited 20 0 1 Glycosylphosphatidylinositol_biosynthesis_defect_16 7 low_record_burden_interpretation_limited low_record_burden_gene PI4KA mondo_mondo_0030482_medgen_c5562025_omim_619621_orphanet_631079 Spastic paraplegia 84, autosomal recessive MONDO:MONDO:0030482,MedGen:C5562025,OMIM:619621,Orphanet:631079 7 7 1.0000 condition_record_support_limited 20 0 3 Spastic_paraplegia_84,_autosomal_recessive 42 large_gene_or_donor_burden_stress_case donor_burden_stress PHYH medgen_c2749345 REFSUM DISEASE, ADULT, 1 MedGen:C2749345 7 7 1.0000 condition_record_support_limited 20 0 4 REFSUM_DISEASE,_ADULT,_1 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF21A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 6 not_provided 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX16 mondo_mondo_0013943_medgen_c3553960_omim_614877_orphanet_44 Peroxisome biogenesis disorder 8B MONDO:MONDO:0013943,MedGen:C3553960,OMIM:614877,Orphanet:44 7 7 1.0000 condition_record_support_limited 20 0 2 Peroxisome_biogenesis_disorder_8B 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX12 pex12_related_disorder PEX12-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 7 PEX12-related_disorder 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDX1 mondo_mondo_0011667_medgen_c1833382_omim_606392_orphanet_552 Maturity-onset diabetes of the young type 4 MONDO:MONDO:0011667,MedGen:C1833382,OMIM:606392,Orphanet:552 7 7 1.0000 condition_record_support_limited 20 0 3 Maturity-onset_diabetes_of_the_young_type_4 14 low_record_burden_interpretation_limited low_record_burden_gene PDGFRB condition_not_provided condition not provided .|MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 5 See_cases|not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDGFRB mondo_mondo_0011150_medgen_c1866182_omim_601812_orphanet_363665 Acroosteolysis-keloid-like lesions-premature aging syndrome MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812,Orphanet:363665 7 7 1.0000 condition_record_support_limited 20 0 6 Acroosteolysis-keloid-like_lesions-premature_aging_syndrome 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6B pde6b_related_disorder PDE6B-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 7 PDE6B-related_disorder 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCDH15 mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 Usher syndrome MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 7 7 1.0000 condition_record_support_limited 20 0 2 Usher_syndrome 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PCCA pcca_related_disorder PCCA-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 6 PCCA-related_disorder 298 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX9 human_phenotype_ontology_hp_0000677_human_phenotype_ontology_hp_0000702_medgen_c4082304 Oligodontia Human_Phenotype_Ontology:HP:0000677,Human_Phenotype_Ontology:HP:0000702,MedGen:C4082304 7 7 1.0000 condition_record_support_limited 20 0 1 Oligodontia 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 mondo_mondo_0007628_medgen_c3805604_omim_136520_orphanet_2253 Foveal hypoplasia 1 MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520,Orphanet:2253 7 7 1.0000 condition_record_support_limited 20 0 6 Foveal_hypoplasia_1 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX3 pax3_related_disorder PAX3-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 4 PAX3-related_disorder 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX1 mondo_mondo_0014254_medgen_c5442121_omim_615560 Otofaciocervical syndrome 2 MONDO:MONDO:0014254,MedGen:C5442121,OMIM:615560 7 7 1.0000 condition_record_support_limited 20 0 1 Otofaciocervical_syndrome_2 23 compact_adjacent_exon_block_opportunity local_compact_architecture PAPPA2 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene P2RY12 mondo_mondo_0030030_medgen_c5394350_omim_618872 Nizon-Isidor syndrome MONDO:MONDO:0030030,MedGen:C5394350,OMIM:618872 7 7 1.0000 condition_record_support_limited 20 0 1 Nizon-Isidor_syndrome 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTUD5 mondo_mondo_0025351_medgen_c5542341_omim_301056 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked MONDO:MONDO:0025351,MedGen:C5542341,OMIM:301056 7 7 1.0000 condition_record_support_limited 20 0 1 Multiple_congenital_anomalies-neurodevelopmental_syndrome,_X-linked 9 low_record_burden_interpretation_limited low_record_burden_gene OTOA otoa_related_disorder OTOA-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 5 OTOA-related_disorder 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ORC4 mondo_mondo_0013428_medgen_c3151097_omim_613800_orphanet_2554 Meier-Gorlin syndrome 2 MONDO:MONDO:0013428,MedGen:C3151097,OMIM:613800,Orphanet:2554 7 7 1.0000 condition_record_support_limited 20 0 2 Meier-Gorlin_syndrome_2 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OFD1 mondo_mondo_0010737_medgen_c3541456_omim_313400 Spondyloepiphyseal dysplasia tarda, X-linked MONDO:MONDO:0010737,MedGen:C3541456,OMIM:313400 7 7 1.0000 condition_record_support_limited 20 0 1 Spondyloepiphyseal_dysplasia_tarda,_X-linked 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OFD1 ofd1_related_disorder OFD1-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 5 OFD1-related_disorder 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ODAD4 mondo_mondo_0014910_medgen_c4310721_omim_617092_orphanet_244 Primary ciliary dyskinesia 35 MONDO:MONDO:0014910,MedGen:C4310721,OMIM:617092,Orphanet:244 7 7 1.0000 condition_record_support_limited 20 0 0 Primary_ciliary_dyskinesia_35 11 low_record_burden_interpretation_limited low_record_burden_gene OCLN condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 1 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NUP107 mondo_mondo_0014752_medgen_c4225228_omim_616730_orphanet_656 Nephrotic syndrome, type 11 MONDO:MONDO:0014752,MedGen:C4225228,OMIM:616730,Orphanet:656 7 7 1.0000 condition_record_support_limited 20 0 1 Nephrotic_syndrome,_type_11 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NTRK1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 199 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NTNG2 mondo_mondo_0032878_medgen_c5231471_omim_618718 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia MONDO:MONDO:0032878,MedGen:C5231471,OMIM:618718 7 7 1.0000 condition_record_support_limited 20 0 6 Neurodevelopmental_disorder_with_behavioral_abnormalities,_absent_speech,_and_hypotonia 8 low_record_burden_interpretation_limited low_record_burden_gene NSDHL condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 3 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR2F1-AS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 79 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture NR1H4 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 2 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene NPRL2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 3 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPR3 mondo_mondo_0859194_medgen_c5561992_omim_619543 Boudin-Mortier syndrome MONDO:MONDO:0859194,MedGen:C5561992,OMIM:619543 7 7 1.0000 condition_record_support_limited 20 0 0 Boudin-Mortier_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene NPM1 human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Acute myeloid leukemia Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 7 7 1.0000 condition_record_support_limited 20 0 1 Acute_myeloid_leukemia 8 low_record_burden_interpretation_limited low_record_burden_gene NPHP4 nphp4_related_disorder NPHP4-related disorder MedGen:CN239384 7 7 1.0000 condition_record_support_limited 20 0 3 NPHP4-related_disorder 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NKX2-1 nkx2_1_related_disorder NKX2-1-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 5 NKX2-1-related_disorder 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NKIRAS1 mondo_mondo_0014245_medgen_c3809888_omim_615550_orphanet_124 Diamond-Blackfan anemia 12 MONDO:MONDO:0014245,MedGen:C3809888,OMIM:615550,Orphanet:124 7 7 1.0000 condition_record_support_limited 20 0 1 Diamond-Blackfan_anemia_12 12 low_record_burden_interpretation_limited low_record_burden_gene NHLRC2 mondo_mondo_0032651_medgen_c4748939_omim_618278_orphanet_621758 Fibrosis, neurodegeneration, and cerebral angiomatosis MONDO:MONDO:0032651,MedGen:C4748939,OMIM:618278,Orphanet:621758 7 7 1.0000 condition_record_support_limited 20 0 2 Fibrosis,_neurodegeneration,_and_cerebral_angiomatosis 8 low_record_burden_interpretation_limited low_record_burden_gene NFU1 mondo_mondo_0975796_medgen_c5975375_omim_620938 Spastic paraplegia 93, autosomal recessive MONDO:MONDO:0975796,MedGen:C5975375,OMIM:620938 7 7 1.0000 condition_record_support_limited 20 0 3 Spastic_paraplegia_93,_autosomal_recessive 17 low_record_burden_interpretation_limited low_record_burden_gene NFKB1 mondo_mondo_0015517_medgen_c0009447_omim_ps607594_orphanet_1572 Common variable immunodeficiency MONDO:MONDO:0015517,MedGen:C0009447,OMIM:PS607594,Orphanet:1572 7 7 1.0000 condition_record_support_limited 20 0 5 Common_variable_immunodeficiency 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIB human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 7 7 1.0000 condition_record_support_limited 20 0 7 Macrocephaly 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIB human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 7 7 1.0000 condition_record_support_limited 20 0 7 Intellectual_disability 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NF1 human_phenotype_ontology_hp_0000957_human_phenotype_ontology_hp_0005601_human_phenotype_ontology_hp_0007454_medgen_c0221263 Cafe-au-lait spot Human_Phenotype_Ontology:HP:0000957,Human_Phenotype_Ontology:HP:0005601,Human_Phenotype_Ontology:HP:0007454,MedGen:C0221263 7 7 1.0000 condition_record_support_limited 20 0 7 Cafe-au-lait_spot 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NEXMIF human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 7 7 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 218 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEK8 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 3 not_provided 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEK10 mondo_mondo_0032914_medgen_c5394063_omim_618781 Ciliary dyskinesia, primary, 44 MONDO:MONDO:0032914,MedGen:C5394063,OMIM:618781 7 7 1.0000 condition_record_support_limited 20 0 1 Ciliary_dyskinesia,_primary,_44 8 low_record_burden_interpretation_limited low_record_burden_gene NECTIN1 mondo_mondo_0009151_medgen_c2931488_omim_225060_orphanet_3253 Cleft lip/palate-ectodermal dysplasia syndrome MONDO:MONDO:0009151,MedGen:C2931488,OMIM:225060,Orphanet:3253 7 7 1.0000 condition_record_support_limited 20 0 1 Cleft_lip/palate-ectodermal_dysplasia_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene NEB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 1871 large_gene_or_donor_burden_stress_case donor_burden_stress NDUFB11 mondo_mondo_0010494_medgen_c4225421_omim_300952_orphanet_2556 Linear skin defects with multiple congenital anomalies 3 MONDO:MONDO:0010494,MedGen:C4225421,OMIM:300952,Orphanet:2556 7 7 1.0000 condition_record_support_limited 20 0 4 Linear_skin_defects_with_multiple_congenital_anomalies_3 11 low_record_burden_interpretation_limited low_record_burden_gene NDUFAF3 mondo_mondo_0032623_medgen_c4748790_omim_618240 Mitochondrial complex I deficiency, nuclear type 18 MONDO:MONDO:0032623,MedGen:C4748790,OMIM:618240 7 7 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency,_nuclear_type_18 8 low_record_burden_interpretation_limited low_record_burden_gene NDUFA12 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 3 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene NCDN mondo_mondo_0859162_medgen_c5543538_omim_619373 Neurodevelopmental disorder with infantile epileptic spasms MONDO:MONDO:0859162,MedGen:C5543538,OMIM:619373 7 7 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_infantile_epileptic_spasms 7 low_record_burden_interpretation_limited low_record_burden_gene NCAPD3 mondo_mondo_0054805_medgen_c4693834_omim_617984 Microcephaly 22, primary, autosomal recessive MONDO:MONDO:0054805,MedGen:C4693834,OMIM:617984 7 7 1.0000 condition_record_support_limited 20 0 0 Microcephaly_22,_primary,_autosomal_recessive 9 low_record_burden_interpretation_limited low_record_burden_gene NAXE mondo_mondo_0014960_medgen_cn263076_omim_ps617186 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy MONDO:MONDO:0014960,MedGen:CN263076,OMIM:PS617186 7 7 1.0000 condition_record_support_limited 20 0 1 Encephalopathy,_progressive,_early-onset,_with_brain_edema_and/or_leukoencephalopathy 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAGS condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 5 not_provided 113 compact_adjacent_exon_block_opportunity local_compact_architecture NAGLU mondo_mondo_0019249_mesh_d009083_medgen_c0026703_omim_ps607014_orphanet_79213 Mucopolysaccharidosis MONDO:MONDO:0019249,MeSH:D009083,MedGen:C0026703,OMIM:PS607014,Orphanet:79213 7 7 1.0000 condition_record_support_limited 20 0 7 Mucopolysaccharidosis 295 compact_adjacent_exon_block_opportunity local_compact_architecture NAGLU mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 295 compact_adjacent_exon_block_opportunity local_compact_architecture MYZAP mondo_mondo_0971175_medgen_c5935636_omim_620894 Cardiomyopathy, dilated, 2K MONDO:MONDO:0971175,MedGen:C5935636,OMIM:620894 7 7 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy,_dilated,_2K 7 low_record_burden_interpretation_limited low_record_burden_gene MYRF human_phenotype_ontology_hp_0000119_human_phenotype_ontology_hp_0008658_human_phenotype_ontology_hp_0008688_human_phenotype_ontology_hp_0008704_human_phenotype_ontology_hp_0008713_mondo_mondo_0019356_medgen_c0042063_orphanet_83001 Urogenital tract malformation Human_Phenotype_Ontology:HP:0000119,Human_Phenotype_Ontology:HP:0008658,Human_Phenotype_Ontology:HP:0008688,Human_Phenotype_Ontology:HP:0008704,Human_Phenotype_Ontology:HP:0008713,MONDO:MONDO:0019356,MedGen:C0042063,Orphanet:83001 7 7 1.0000 condition_record_support_limited 20 0 7 Urogenital_tract_malformation 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYRF human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 7 7 1.0000 condition_record_support_limited 20 0 7 Heart,_malformation_of 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO7A mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 7 7 1.0000 condition_record_support_limited 20 0 7 Nonsyndromic_genetic_hearing_loss 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO7A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 7 Inborn_genetic_diseases 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO7A human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 7 7 1.0000 condition_record_support_limited 20 0 4 Ear_malformation 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYL2 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 5 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene MYL2 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 7 7 1.0000 condition_record_support_limited 20 0 5 Hypertrophic_cardiomyopathy 17 low_record_burden_interpretation_limited low_record_burden_gene MYH10 condition_not_provided condition not provided .|MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 0 See_cases|not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene MVK mvk_related_disorder MVK-related disorder MedGen:CN239294 7 7 1.0000 condition_record_support_limited 20 0 7 MVK-related_disorder 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MVK mondo_mondo_0019751_medgen_c3890737_orphanet_93665 Autoinflammatory syndrome MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 7 7 1.0000 condition_record_support_limited 20 0 6 Autoinflammatory_syndrome 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTX2 mondo_mondo_0030880_medgen_c5436867_omim_619127_orphanet_647667 Mandibuloacral dysplasia progeroid syndrome MONDO:MONDO:0030880,MedGen:C5436867,OMIM:619127,Orphanet:647667 7 7 1.0000 condition_record_support_limited 20 0 5 Mandibuloacral_dysplasia_progeroid_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene MSX2 mondo_mondo_0008197_medgen_c1868599_omim_168500_orphanet_60015 Parietal foramina 1 MONDO:MONDO:0008197,MedGen:C1868599,OMIM:168500,Orphanet:60015 7 7 1.0000 condition_record_support_limited 20 0 2 Parietal_foramina_1 14 low_record_burden_interpretation_limited low_record_burden_gene MSH4 mondo_mondo_0007161_medgen_c1862459_omim_108420 Spermatogenic failure 2 MONDO:MONDO:0007161,MedGen:C1862459,OMIM:108420 7 7 1.0000 condition_record_support_limited 20 0 3 Spermatogenic_failure_2 15 low_record_burden_interpretation_limited low_record_burden_gene MRAP mondo_mondo_0011826_medgen_c4049714_omim_607398_orphanet_361 Glucocorticoid deficiency 2 MONDO:MONDO:0011826,MedGen:C4049714,OMIM:607398,Orphanet:361 7 7 1.0000 condition_record_support_limited 20 0 2 Glucocorticoid_deficiency_2 9 low_record_burden_interpretation_limited low_record_burden_gene MPZ mondo_mondo_0020765_medgen_c4722277_omim_618184 Neuropathy, congenital hypomyelinating, 2 MONDO:MONDO:0020765,MedGen:C4722277,OMIM:618184 7 7 1.0000 condition_record_support_limited 20 0 5 Neuropathy,_congenital_hypomyelinating,_2 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPDZ mpdz_related_disorder MPDZ-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 6 MPDZ-related_disorder 131 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MNS1 mondo_mondo_0030070_medgen_c5394551_omim_618948 Heterotaxy, visceral, 9, autosomal, with male infertility MONDO:MONDO:0030070,MedGen:C5394551,OMIM:618948 7 7 1.0000 condition_record_support_limited 20 0 2 Heterotaxy,_visceral,_9,_autosomal,_with_male_infertility 8 low_record_burden_interpretation_limited low_record_burden_gene MMACHC disorders_of_intracellular_cobalamin_metabolism Disorders of Intracellular Cobalamin Metabolism MedGen:CN043592 7 7 1.0000 condition_record_support_limited 20 0 7 Disorders_of_Intracellular_Cobalamin_Metabolism 178 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MLYCD condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 2 not_provided 68 compact_adjacent_exon_block_opportunity local_compact_architecture MILR1 mondo_mondo_0012415_medgen_c1864668_omim_610131 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MONDO:MONDO:0012415,MedGen:C1864668,OMIM:610131 7 7 1.0000 condition_record_support_limited 20 0 2 Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_4 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture METTL8 mondo_mondo_0009419_medgen_c0342286_omim_241080_orphanet_3464 Woodhouse-Sakati syndrome MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464 7 7 1.0000 condition_record_support_limited 20 0 0 Woodhouse-Sakati_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene MEFV mondo_mondo_0019751_medgen_c3890737_orphanet_93665 Autoinflammatory syndrome MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 7 7 1.0000 condition_record_support_limited 20 0 6 Autoinflammatory_syndrome 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MBTPS2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 3 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene MBTPS2 mondo_mondo_0100213_medgen_c5399971_omim_308205_orphanet_2273_orphanet_85284 IFAP syndrome 1, with or without BRESHECK syndrome MONDO:MONDO:0100213,MedGen:C5399971,OMIM:308205,Orphanet:2273,Orphanet:85284 7 7 1.0000 condition_record_support_limited 20 0 2 IFAP_syndrome_1,_with_or_without_BRESHECK_syndrome 17 low_record_burden_interpretation_limited low_record_burden_gene MATN3 mondo_mondo_0011765_medgen_c1846843_omim_607078_orphanet_93311 Multiple epiphyseal dysplasia type 5 MONDO:MONDO:0011765,MedGen:C1846843,OMIM:607078,Orphanet:93311 7 7 1.0000 condition_record_support_limited 20 0 4 Multiple_epiphyseal_dysplasia_type_5 12 low_record_burden_interpretation_limited low_record_burden_gene MARK2 mondo_mondo_0979575_medgen_c6012756_omim_621285 Intellectual developmental disorder, autosomal dominant 76 MONDO:MONDO:0979575,MedGen:C6012756,OMIM:621285 7 7 1.0000 condition_record_support_limited 20 0 6 Intellectual_developmental_disorder,_autosomal_dominant_76 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAPT mondo_mondo_0008243_medgen_c0236642_omim_172700_orphanet_282 Pick disease MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700,Orphanet:282 7 7 1.0000 condition_record_support_limited 20 0 7 Pick_disease 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAPRE2 mondo_mondo_0014755_medgen_c4225225_omim_616734 Skin creases, congenital symmetric circumferential, 2 MONDO:MONDO:0014755,MedGen:C4225225,OMIM:616734 7 7 1.0000 condition_record_support_limited 20 0 1 Skin_creases,_congenital_symmetric_circumferential,_2 7 low_record_burden_interpretation_limited low_record_burden_gene MAPK1 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 5 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene MAPK1 human_phenotype_ontology_hp_0001328_human_phenotype_ontology_hp_0007234_mondo_mondo_0016225_medgen_c4025790_orphanet_211047 Specific learning disability Human_Phenotype_Ontology:HP:0001328,Human_Phenotype_Ontology:HP:0007234,MONDO:MONDO:0016225,MedGen:C4025790,Orphanet:211047 7 7 1.0000 condition_record_support_limited 20 0 7 Specific_learning_disability 13 low_record_burden_interpretation_limited low_record_burden_gene MAPK1 human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Atypical behavior Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 7 7 1.0000 condition_record_support_limited 20 0 7 Atypical_behavior 13 low_record_burden_interpretation_limited low_record_burden_gene MAPK1 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 7 7 1.0000 condition_record_support_limited 20 0 7 Abnormal_facial_shape 13 low_record_burden_interpretation_limited low_record_burden_gene MAP3K7 mondo_mondo_0014935_medgen_c4310697_omim_617137 Frontometaphyseal dysplasia 2 MONDO:MONDO:0014935,MedGen:C4310697,OMIM:617137 7 7 1.0000 condition_record_support_limited 20 0 2 Frontometaphyseal_dysplasia_2 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAGEL2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 95 single_exon_hotspot_opportunity local_compact_architecture MAB21L2 mondo_mondo_0014380_medgen_c4014540_omim_615877_orphanet_424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome MONDO:MONDO:0014380,MedGen:C4014540,OMIM:615877,Orphanet:424099 7 7 1.0000 condition_record_support_limited 20 0 0 Colobomatous_microphthalmia-rhizomelic_dysplasia_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene LYST medgen_c4016992 CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE MedGen:C4016992 7 7 1.0000 condition_record_support_limited 20 0 7 CHEDIAK-HIGASHI_SYNDROME,_CHILDHOOD_TYPE 272 large_gene_or_donor_burden_stress_case donor_burden_stress LTBP2 human_phenotype_ontology_hp_0030961_medgen_c1562061 Microspherophakia Human_Phenotype_Ontology:HP:0030961,MedGen:C1562061 7 7 1.0000 condition_record_support_limited 20 0 2 Microspherophakia 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRSAM1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRRC56 mondo_mondo_0008566_medgen_c4225426_omim_188470 Thyroid cancer, nonmedullary, 2 MONDO:MONDO:0008566,MedGen:C4225426,OMIM:188470 7 7 1.0000 condition_record_support_limited 20 0 7 Thyroid_cancer,_nonmedullary,_2 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 mondo_mondo_0020297_medgen_c5681679_orphanet_98733 Noonan syndrome and Noonan-related syndrome MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 7 7 1.0000 condition_record_support_limited 20 0 7 Noonan_syndrome_and_Noonan-related_syndrome 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 7 7 1.0000 condition_record_support_limited 20 0 7 Malignant_tumor_of_urinary_bladder 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 human_phenotype_ontology_hp_0005600_human_phenotype_ontology_hp_0005604_mondo_mondo_0044792_medgen_c1842036_omim_137550_orphanet_626 Large congenital melanocytic nevus Human_Phenotype_Ontology:HP:0005600,Human_Phenotype_Ontology:HP:0005604,MONDO:MONDO:0044792,MedGen:C1842036,OMIM:137550,Orphanet:626 7 7 1.0000 condition_record_support_limited 20 0 7 Large_congenital_melanocytic_nevus 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRP5 mondo_mondo_0007589_medgen_c1851402_omim_133780_orphanet_891_orphanet_90050 Exudative vitreoretinopathy 1 MONDO:MONDO:0007589,MedGen:C1851402,OMIM:133780,Orphanet:891,Orphanet:90050 7 7 1.0000 condition_record_support_limited 20 0 6 Exudative_vitreoretinopathy_1 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRBA mondo_mondo_0014380_medgen_c4014540_omim_615877_orphanet_424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome MONDO:MONDO:0014380,MedGen:C4014540,OMIM:615877,Orphanet:424099 7 7 1.0000 condition_record_support_limited 20 0 0 Colobomatous_microphthalmia-rhizomelic_dysplasia_syndrome 186 large_gene_or_donor_burden_stress_case donor_burden_stress LNPK mondo_mondo_0060761_medgen_c4748137_omim_618090 Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum MONDO:MONDO:0060761,MedGen:C4748137,OMIM:618090 7 7 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_epilepsy_and_hypoplasia_of_the_corpus_callosum 8 low_record_burden_interpretation_limited low_record_burden_gene LMOD3 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 5 not_provided 47 compact_adjacent_exon_block_opportunity local_compact_architecture LMOD2 mondo_mondo_0030887_medgen_c5676995_omim_619897 Cardiomyopathy, dilated, 2G MONDO:MONDO:0030887,MedGen:C5676995,OMIM:619897 7 7 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy,_dilated,_2G 7 low_record_burden_interpretation_limited low_record_burden_gene LMNB1 mondo_mondo_0030928_medgen_c5543048_omim_619179 Microcephaly 26, primary, autosomal dominant MONDO:MONDO:0030928,MedGen:C5543048,OMIM:619179 7 7 1.0000 condition_record_support_limited 20 0 6 Microcephaly_26,_primary,_autosomal_dominant 9 low_record_burden_interpretation_limited low_record_burden_gene LMF1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 7 7 1.0000 condition_record_support_limited 20 0 5 Cardiovascular_phenotype 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMBR1 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 4 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene LITAF mondo_mondo_0010995_medgen_c0270913_omim_601098_orphanet_101083 Charcot-Marie-Tooth disease type 1C MONDO:MONDO:0010995,MedGen:C0270913,OMIM:601098,Orphanet:101083 7 7 1.0000 condition_record_support_limited 20 0 4 Charcot-Marie-Tooth_disease_type_1C 8 low_record_burden_interpretation_limited low_record_burden_gene LHX4 mondo_mondo_0009880_medgen_c2678408_omim_262700_orphanet_85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome MONDO:MONDO:0009880,MedGen:C2678408,OMIM:262700,Orphanet:85442 7 7 1.0000 condition_record_support_limited 20 0 0 Short_stature-pituitary_and_cerebellar_defects-small_sella_turcica_syndrome 13 low_record_burden_interpretation_limited low_record_burden_gene LEPR mondo_mondo_0013992_medgen_c3554225_omim_614963_orphanet_179494 Obesity due to leptin receptor gene deficiency MONDO:MONDO:0013992,MedGen:C3554225,OMIM:614963,Orphanet:179494 7 7 1.0000 condition_record_support_limited 20 0 2 Obesity_due_to_leptin_receptor_gene_deficiency 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LACC1 mondo_mondo_0032920_medgen_cn263340_omim_618795 Juvenile arthritis due to defect in LACC1 MONDO:MONDO:0032920,MedGen:CN263340,OMIM:618795 7 7 1.0000 condition_record_support_limited 20 0 1 Juvenile_arthritis_due_to_defect_in_LACC1 8 low_record_burden_interpretation_limited low_record_burden_gene L1CAM mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 203 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KYNU condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 5 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KY mondo_mondo_0014922_medgen_c4310711_omim_617114 Myofibrillar myopathy 7 MONDO:MONDO:0014922,MedGen:C4310711,OMIM:617114 7 7 1.0000 condition_record_support_limited 20 0 0 Myofibrillar_myopathy_7 8 low_record_burden_interpretation_limited low_record_burden_gene KRTCAP3 mondo_mondo_0023670_medgen_c4310707_omim_619471 Bardet-Biedl syndrome 20 MONDO:MONDO:0023670,MedGen:C4310707,OMIM:619471 7 7 1.0000 condition_record_support_limited 20 0 7 Bardet-Biedl_syndrome_20 17 low_record_burden_interpretation_limited low_record_burden_gene KRT5 mondo_mondo_0007556_medgen_c0432316_omim_131960_orphanet_79397 Epidermolysis bullosa simplex with mottled pigmentation MONDO:MONDO:0007556,MedGen:C0432316,OMIM:131960,Orphanet:79397 7 7 1.0000 condition_record_support_limited 20 0 7 Epidermolysis_bullosa_simplex_with_mottled_pigmentation 96 compact_adjacent_exon_block_opportunity local_compact_architecture KRT5 mondo_mondo_0012258_medgen_c1836284_omim_609352_orphanet_158681 Epidermolysis bullosa simplex with migratory circinate erythema MONDO:MONDO:0012258,MedGen:C1836284,OMIM:609352,Orphanet:158681 7 7 1.0000 condition_record_support_limited 20 0 4 Epidermolysis_bullosa_simplex_with_migratory_circinate_erythema 96 compact_adjacent_exon_block_opportunity local_compact_architecture KRT5 mondo_mondo_0030489_medgen_cn301077_omim_619555 Epidermolysis bullosa simplex 2A, generalized severe MONDO:MONDO:0030489,MedGen:CN301077,OMIM:619555 7 7 1.0000 condition_record_support_limited 20 0 7 Epidermolysis_bullosa_simplex_2A,_generalized_severe 96 compact_adjacent_exon_block_opportunity local_compact_architecture KRT5 mondo_mondo_0024534_medgen_c4552092_omim_179850_orphanet_79145 Dowling-Degos disease 1 MONDO:MONDO:0024534,MedGen:C4552092,OMIM:179850,Orphanet:79145 7 7 1.0000 condition_record_support_limited 20 0 7 Dowling-Degos_disease_1 96 compact_adjacent_exon_block_opportunity local_compact_architecture KRAS human_phenotype_ontology_hp_0010817_mondo_mondo_0008097_medgen_c4552097_omim_163200_orphanet_2612 Linear nevus sebaceous syndrome Human_Phenotype_Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612 7 7 1.0000 condition_record_support_limited 20 0 6 Linear_nevus_sebaceous_syndrome 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Acute myeloid leukemia Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 7 7 1.0000 condition_record_support_limited 20 0 6 Acute_myeloid_leukemia 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KMT5B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIZ human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 7 7 1.0000 condition_record_support_limited 20 0 6 Retinal_dystrophy 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF22 mondo_mondo_0011335_medgen_c1863732_omim_603546_orphanet_93360 Spondyloepimetaphyseal dysplasia with multiple dislocations MONDO:MONDO:0011335,MedGen:C1863732,OMIM:603546,Orphanet:93360 7 7 1.0000 condition_record_support_limited 20 0 4 Spondyloepimetaphyseal_dysplasia_with_multiple_dislocations 8 low_record_burden_interpretation_limited low_record_burden_gene KIF11 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 7 7 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy 180 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KERA condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 3 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene KDM1A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 1 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene KCNV2 cone_dystrophy_with_supernormal_rod_electroretinogram cone dystrophy with supernormal rod electroretinogram . 7 7 1.0000 condition_record_support_limited 20 0 2 cone_dystrophy_with_supernormal_rod_electroretinogram 80 compact_adjacent_exon_block_opportunity local_compact_architecture KCNMA1 mondo_mondo_0032886_medgen_c5231479_omim_618729_orphanet_664438 Liang-Wang syndrome MONDO:MONDO:0032886,MedGen:C5231479,OMIM:618729,Orphanet:664438 7 7 1.0000 condition_record_support_limited 20 0 3 Liang-Wang_syndrome 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNK3 mondo_mondo_0014136_medgen_c3809198_omim_615344_orphanet_422 Pulmonary hypertension, primary, 4 MONDO:MONDO:0014136,MedGen:C3809198,OMIM:615344,Orphanet:422 7 7 1.0000 condition_record_support_limited 20 0 1 Pulmonary_hypertension,_primary,_4 9 low_record_burden_interpretation_limited low_record_burden_gene KCNJ11 mondo_mondo_0017182_medgen_c3888018_orphanet_276525 Familial hyperinsulinism MONDO:MONDO:0017182,MedGen:C3888018,Orphanet:276525 7 7 1.0000 condition_record_support_limited 20 0 7 Familial_hyperinsulinism 72 single_exon_hotspot_opportunity local_compact_architecture KCNJ10 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 5 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNA2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 7 7 1.0000 condition_record_support_limited 20 0 3 Seizure 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KAT8 mondo_mondo_0033547_medgen_c5436525_omim_618974 Li-Ghorbani-Weisz-Hubshman syndrome MONDO:MONDO:0033547,MedGen:C5436525,OMIM:618974 7 7 1.0000 condition_record_support_limited 20 0 1 Li-Ghorbani-Weisz-Hubshman_syndrome 11 low_record_burden_interpretation_limited low_record_burden_gene JARID2 condition_not_provided condition not provided .|MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 0 See_cases|not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JAM2 mondo_mondo_0032938_medgen_c5394199_omim_618824 Basal ganglia calcification, idiopathic, 8, autosomal recessive MONDO:MONDO:0032938,MedGen:C5394199,OMIM:618824 7 7 1.0000 condition_record_support_limited 20 0 1 Basal_ganglia_calcification,_idiopathic,_8,_autosomal_recessive 7 low_record_burden_interpretation_limited low_record_burden_gene ITSN1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGB6 mondo_mondo_0014540_medgen_c4015557_omim_616221_orphanet_88661 Amelogenesis imperfecta type 1H MONDO:MONDO:0014540,MedGen:C4015557,OMIM:616221,Orphanet:88661 7 7 1.0000 condition_record_support_limited 20 0 0 Amelogenesis_imperfecta_type_1H 8 low_record_burden_interpretation_limited low_record_burden_gene ITGA7 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 4 not_provided 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA3 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 3 not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA2B itga2b_related_disorder ITGA2B-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 5 ITGA2B-related_disorder 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IRF6 mondo_mondo_0007334_medgen_c5848052_omim_119500_orphanet_1300 Autosomal dominant popliteal pterygium syndrome MONDO:MONDO:0007334,MedGen:C5848052,OMIM:119500,Orphanet:1300 7 7 1.0000 condition_record_support_limited 20 0 7 Autosomal_dominant_popliteal_pterygium_syndrome 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INS mondo_mondo_0007454_medgen_c1852092_omim_125852 Type 1 diabetes mellitus 2 MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852 7 7 1.0000 condition_record_support_limited 20 0 7 Type_1_diabetes_mellitus_2 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPG2 medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 7 7 1.0000 condition_record_support_limited 20 0 6 Autosomal_recessive_retinitis_pigmentosa 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IKZF5 mondo_mondo_0030867_medgen_c5436874_omim_619130 Thrombocytopenia 7 MONDO:MONDO:0030867,MedGen:C5436874,OMIM:619130 7 7 1.0000 condition_record_support_limited 20 0 0 Thrombocytopenia_7 7 low_record_burden_interpretation_limited low_record_burden_gene IKZF1 human_phenotype_ontology_hp_0004803_human_phenotype_ontology_hp_0005555_human_phenotype_ontology_hp_0006721_mondo_mondo_0004967_medgen_c0023449_omim_613065_orphanet_513 Acute lymphoid leukemia Human_Phenotype_Ontology:HP:0004803,Human_Phenotype_Ontology:HP:0005555,Human_Phenotype_Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513 7 7 1.0000 condition_record_support_limited 20 0 2 Acute_lymphoid_leukemia 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT74 mondo_mondo_0030462_medgen_c5562007_omim_619582 Joubert syndrome 40 MONDO:MONDO:0030462,MedGen:C5562007,OMIM:619582 7 7 1.0000 condition_record_support_limited 20 0 3 Joubert_syndrome_40 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDH3B mondo_mondo_0012943_medgen_c2675496_omim_612572_orphanet_791 Retinitis pigmentosa 46 MONDO:MONDO:0012943,MedGen:C2675496,OMIM:612572,Orphanet:791 7 7 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa_46 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IARS2 mondo_mondo_0014455_medgen_c4014942_omim_616007_orphanet_436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome MONDO:MONDO:0014455,MedGen:C4014942,OMIM:616007,Orphanet:436174 7 7 1.0000 condition_record_support_limited 20 0 2 Cataract-growth_hormone_deficiency-sensory_neuropathy-sensorineural_hearing_loss-skeletal_dysplasia_syndrome 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSD11B2 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 3 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS mondo_mondo_0008566_medgen_c4225426_omim_188470 Thyroid cancer, nonmedullary, 2 MONDO:MONDO:0008566,MedGen:C4225426,OMIM:188470 7 7 1.0000 condition_record_support_limited 20 0 7 Thyroid_cancer,_nonmedullary,_2 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS mondo_mondo_0020297_medgen_c5681679_orphanet_98733 Noonan syndrome and Noonan-related syndrome MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 7 7 1.0000 condition_record_support_limited 20 0 7 Noonan_syndrome_and_Noonan-related_syndrome 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 7 7 1.0000 condition_record_support_limited 20 0 7 Malignant_tumor_of_urinary_bladder 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS human_phenotype_ontology_hp_0005600_human_phenotype_ontology_hp_0005604_mondo_mondo_0044792_medgen_c1842036_omim_137550_orphanet_626 Large congenital melanocytic nevus Human_Phenotype_Ontology:HP:0005600,Human_Phenotype_Ontology:HP:0005604,MONDO:MONDO:0044792,MedGen:C1842036,OMIM:137550,Orphanet:626 7 7 1.0000 condition_record_support_limited 20 0 7 Large_congenital_melanocytic_nevus 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPS4 mondo_mondo_0019312_medgen_c0079504_omim_ps203300_orphanet_79430 Hermansky-Pudlak syndrome MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430 7 7 1.0000 condition_record_support_limited 20 0 3 Hermansky-Pudlak_syndrome 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPDL mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 48 single_exon_hotspot_opportunity local_compact_architecture HNRNPU mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 148 compact_adjacent_exon_block_opportunity local_compact_architecture HNRNPK mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMOX1 mondo_mondo_0013536_medgen_c1841651_omim_614034_orphanet_562509 Heme oxygenase 1 deficiency MONDO:MONDO:0013536,MedGen:C1841651,OMIM:614034,Orphanet:562509 7 7 1.0000 condition_record_support_limited 20 0 5 Heme_oxygenase_1_deficiency 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMGCS1 mondo_mondo_0019951_medgen_cn293569_orphanet_97244 Rigid spine syndrome MONDO:MONDO:0019951,MedGen:CN293569,Orphanet:97244 7 7 1.0000 condition_record_support_limited 20 0 5 Rigid_spine_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene HMGCL condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 7 not_provided 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HGF condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene HESX1 medgen_c2750027 GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES MedGen:C2750027 7 7 1.0000 condition_record_support_limited 20 0 7 GROWTH_HORMONE_DEFICIENCY_WITH_PITUITARY_ANOMALIES 21 compact_adjacent_exon_block_opportunity local_compact_architecture HELLS mondo_mondo_0014829_medgen_c4310798_omim_616911_orphanet_2268 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 MONDO:MONDO:0014829,MedGen:C4310798,OMIM:616911,Orphanet:2268 7 7 1.0000 condition_record_support_limited 20 0 2 Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_4 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HECW2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HDAC4 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 2 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene HCFC1 mondo_mondo_0010657_medgen_c0796208_omim_309541_orphanet_369962 Methylmalonic acidemia with homocystinuria, type cblX MONDO:MONDO:0010657,MedGen:C0796208,OMIM:309541,Orphanet:369962 7 7 1.0000 condition_record_support_limited 20 0 3 Methylmalonic_acidemia_with_homocystinuria,_type_cblX 13 low_record_burden_interpretation_limited low_record_burden_gene HBD medgen_c0271990 delta Thalassemia MedGen:C0271990 7 7 1.0000 condition_record_support_limited 20 0 2 delta_Thalassemia 14 low_record_burden_interpretation_limited low_record_burden_gene HBB mondo_mondo_0016486_medgen_c0002875_orphanet_231214 Beta-thalassemia major MONDO:MONDO:0016486,MedGen:C0002875,Orphanet:231214 7 7 1.0000 condition_record_support_limited 20 0 7 Beta-thalassemia_major 428 compact_adjacent_exon_block_opportunity local_compact_architecture GRIN1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRHL2 mondo_mondo_0012083_medgen_c1837640_omim_608641_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 28 MONDO:MONDO:0012083,MedGen:C1837640,OMIM:608641,Orphanet:90635 7 7 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_nonsyndromic_hearing_loss_28 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GREB1L greb1l_related_disorder GREB1L-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 0 GREB1L-related_disorder 86 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture GPX4 mondo_mondo_0009593_medgen_c1855229_omim_250220_orphanet_93317 Spondylometaphyseal dysplasia, Sedaghatian type MONDO:MONDO:0009593,MedGen:C1855229,OMIM:250220,Orphanet:93317 7 7 1.0000 condition_record_support_limited 20 0 3 Spondylometaphyseal_dysplasia,_Sedaghatian_type 15 low_record_burden_interpretation_limited low_record_burden_gene GNA11 mondo_mondo_0014146_medgen_c3809243_omim_615361_orphanet_2238_orphanet_428 Autosomal dominant hypocalcemia 2 MONDO:MONDO:0014146,MedGen:C3809243,OMIM:615361,Orphanet:2238,Orphanet:428 7 7 1.0000 condition_record_support_limited 20 0 4 Autosomal_dominant_hypocalcemia_2 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GMPPB gmppb_related_disorder GMPPB-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 6 GMPPB-related_disorder 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLRA2 mondo_mondo_0024772_medgen_c5676881_omim_301076 Intellectual developmental disorder, X-linked, syndromic, Pilorge type MONDO:MONDO:0024772,MedGen:C5676881,OMIM:301076 7 7 1.0000 condition_record_support_limited 20 0 2 Intellectual_developmental_disorder,_X-linked,_syndromic,_Pilorge_type 10 low_record_burden_interpretation_limited low_record_burden_gene GIPC3 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 2 not_provided 28 compact_adjacent_exon_block_opportunity local_compact_architecture GFI1B mondo_mondo_0008553_medgen_c1861194_omim_187900_orphanet_721 Platelet-type bleeding disorder 17 MONDO:MONDO:0008553,MedGen:C1861194,OMIM:187900,Orphanet:721 7 7 1.0000 condition_record_support_limited 20 0 1 Platelet-type_bleeding_disorder_17 11 low_record_burden_interpretation_limited low_record_burden_gene GDF1 mondo_mondo_0013463_medgen_c3151221_omim_613854_orphanet_860 Congenital heart defects, multiple types, 6 MONDO:MONDO:0013463,MedGen:C3151221,OMIM:613854,Orphanet:860 7 7 1.0000 condition_record_support_limited 20 0 4 Congenital_heart_defects,_multiple_types,_6 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCSH mondo_mondo_0957382_medgen_c5830586_omim_620423 Multiple mitochondrial dysfunctions syndrome 7 MONDO:MONDO:0957382,MedGen:C5830586,OMIM:620423 7 7 1.0000 condition_record_support_limited 20 0 3 Multiple_mitochondrial_dysfunctions_syndrome_7 9 low_record_burden_interpretation_limited low_record_burden_gene GCNT2 mondo_mondo_0007289_medgen_c3805373_omim_116700_orphanet_91492 Cataract 13 with adult I phenotype MONDO:MONDO:0007289,MedGen:C3805373,OMIM:116700,Orphanet:91492 7 7 1.0000 condition_record_support_limited 20 0 1 Cataract_13_with_adult_I_phenotype 12 low_record_burden_interpretation_limited low_record_burden_gene GCM2 mondo_mondo_0024570_medgen_c4479229_omim_617343 Hyperparathyroidism 4 MONDO:MONDO:0024570,MedGen:C4479229,OMIM:617343 7 7 1.0000 condition_record_support_limited 20 0 6 Hyperparathyroidism_4 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBF1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 4 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene GALNT2 mondo_mondo_0030043_medgen_c5394387_omim_618885 Congenital disorder of glycosylation, type iit MONDO:MONDO:0030043,MedGen:C5394387,OMIM:618885 7 7 1.0000 condition_record_support_limited 20 0 1 Congenital_disorder_of_glycosylation,_type_iit 8 low_record_burden_interpretation_limited low_record_burden_gene GALE condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 4 not_provided 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRA2 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 3 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FZD5 mondo_mondo_0958239_medgen_c5935584_omim_620731 Microphthalmia/coloboma 11 MONDO:MONDO:0958239,MedGen:C5935584,OMIM:620731 7 7 1.0000 condition_record_support_limited 20 0 1 Microphthalmia/coloboma_11 9 low_record_burden_interpretation_limited low_record_burden_gene FYCO1 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 4 not_provided 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FSHR medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 7 7 1.0000 condition_record_support_limited 20 0 0 Genetic_non-acquired_premature_ovarian_failure 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FRYL mondo_mondo_0975953_medgen_c5975547_omim_621049 Pan-Chung-Bellen syndrome MONDO:MONDO:0975953,MedGen:C5975547,OMIM:621049 7 7 1.0000 condition_record_support_limited 20 0 1 Pan-Chung-Bellen_syndrome 23 large_gene_or_donor_burden_stress_case donor_burden_stress FOXRED1 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 7 7 1.0000 condition_record_support_limited 20 0 5 Leigh_syndrome 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXL2 medgen_c2931136 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II MedGen:C2931136 7 7 1.0000 condition_record_support_limited 20 0 6 BLEPHAROPHIMOSIS,_PTOSIS,_AND_EPICANTHUS_INVERSUS,_TYPE_II 174 single_exon_hotspot_opportunity local_compact_architecture FLVCR2 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 1 not_provided 21 compact_adjacent_exon_block_opportunity local_compact_architecture FLNB mondo_mondo_0007167_medgen_c0265283_omim_108720_orphanet_1190 Atelosteogenesis type I MONDO:MONDO:0007167,MedGen:C0265283,OMIM:108720,Orphanet:1190 7 7 1.0000 condition_record_support_limited 20 0 4 Atelosteogenesis_type_I 153 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA mondo_mondo_0010232_medgen_c2746068_omim_300048_orphanet_2301 Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked MONDO:MONDO:0010232,MedGen:C2746068,OMIM:300048,Orphanet:2301 7 7 1.0000 condition_record_support_limited 20 0 6 Intestinal_pseudoobstruction,_neuronal,_chronic_idiopathic,_X-linked 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLI1 mondo_mondo_0054577_medgen_c4479515_omim_617443 Bleeding disorder, platelet-type, 21 MONDO:MONDO:0054577,MedGen:C4479515,OMIM:617443 7 7 1.0000 condition_record_support_limited 20 0 2 Bleeding_disorder,_platelet-type,_21 9 low_record_burden_interpretation_limited low_record_burden_gene FKTN mondo_mondo_0009364_medgen_c4284790_omim_236670_orphanet_588_orphanet_899 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899 7 7 1.0000 condition_record_support_limited 20 0 7 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FITM2 mondo_mondo_0032842_medgen_c5231435_omim_618635 Siddiqi syndrome MONDO:MONDO:0032842,MedGen:C5231435,OMIM:618635 7 7 1.0000 condition_record_support_limited 20 0 0 Siddiqi_syndrome 11 low_record_burden_interpretation_limited low_record_burden_gene FHL1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 7 7 1.0000 condition_record_support_limited 20 0 3 Cardiovascular_phenotype 101 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 7 Inborn_genetic_diseases 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 7 7 1.0000 condition_record_support_limited 20 0 5 Carcinoma_of_colon 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0006753_mondo_mondo_0021085_medgen_c0038356 Neoplasm of stomach Human_Phenotype_Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356 7 7 1.0000 condition_record_support_limited 20 0 7 Neoplasm_of_stomach 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 7 7 1.0000 condition_record_support_limited 20 0 7 Gastric_cancer 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGF8 human_phenotype_ontology_hp_0001360_human_phenotype_ontology_hp_0009807_mondo_mondo_0016296_medgen_c0079541_omim_ps236100_orphanet_2162 Holoprosencephaly sequence Human_Phenotype_Ontology:HP:0001360,Human_Phenotype_Ontology:HP:0009807,MONDO:MONDO:0016296,MedGen:C0079541,OMIM:PS236100,Orphanet:2162 7 7 1.0000 condition_record_support_limited 20 0 4 Holoprosencephaly_sequence 18 low_record_burden_interpretation_limited low_record_burden_gene FGF10 mondo_mondo_0859578_medgen_c5774287_omim_620193 Lacrimoauriculodentodigital syndrome 3 MONDO:MONDO:0859578,MedGen:C5774287,OMIM:620193 7 7 1.0000 condition_record_support_limited 20 0 1 Lacrimoauriculodentodigital_syndrome_3 25 compact_adjacent_exon_block_opportunity local_compact_architecture FGB mondo_mondo_0008737_medgen_c2584774_omim_202400_orphanet_335_orphanet_98880 Congenital afibrinogenemia MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880 7 7 1.0000 condition_record_support_limited 20 0 1 Congenital_afibrinogenemia 17 low_record_burden_interpretation_limited low_record_burden_gene FDXR mondo_mondo_0971174_medgen_c5935635_omim_620887 Multiple mitochondrial dysfunctions syndrome 9b MONDO:MONDO:0971174,MedGen:C5935635,OMIM:620887 7 7 1.0000 condition_record_support_limited 20 0 6 Multiple_mitochondrial_dysfunctions_syndrome_9b 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXO7 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 6 not_provided 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL4 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 7 7 1.0000 condition_record_support_limited 20 0 4 Leigh_syndrome 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBN1 mondo_mondo_0017309_medgen_c4016054_orphanet_284979 Neonatal Marfan syndrome MONDO:MONDO:0017309,MedGen:C4016054,Orphanet:284979 7 7 1.0000 condition_record_support_limited 20 0 3 Neonatal_Marfan_syndrome 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FARSB mondo_mondo_0100214_medgen_c3150910_omim_ps613658_orphanet_178506 Rajab interstitial lung disease with brain calcifications MONDO:MONDO:0100214,MedGen:C3150910,OMIM:PS613658,Orphanet:178506 7 7 1.0000 condition_record_support_limited 20 0 7 Rajab_interstitial_lung_disease_with_brain_calcifications 13 low_record_burden_interpretation_limited low_record_burden_gene EVC evc_related_disorder EVC-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 7 EVC-related_disorder 320 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ESAM mondo_mondo_0957267_medgen_c5830509_omim_620371 Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity MONDO:MONDO:0957267,MedGen:C5830509,OMIM:620371 7 7 1.0000 condition_record_support_limited 20 0 4 Neurodevelopmental_disorder_with_intracranial_hemorrhage,_seizures,_and_spasticity 7 low_record_burden_interpretation_limited low_record_burden_gene ERLIN2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 2 not_provided 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERI1 mondo_mondo_0958006_medgen_c5882737_omim_620663 Spondyloepimetaphyseal dysplasia, Guo-Campeau type MONDO:MONDO:0958006,MedGen:C5882737,OMIM:620663 7 7 1.0000 condition_record_support_limited 20 0 2 Spondyloepimetaphyseal_dysplasia,_Guo-Campeau_type 13 low_record_burden_interpretation_limited low_record_burden_gene ERF noonan_syndrome_like_developmental_disorder Noonan Syndrome-like developmental disorder . 7 7 1.0000 condition_record_support_limited 20 0 4 Noonan_Syndrome-like_developmental_disorder 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC4 mondo_mondo_0019600_medgen_c0043346_orphanet_910 Xeroderma pigmentosum MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910 7 7 1.0000 condition_record_support_limited 20 0 2 Xeroderma_pigmentosum 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPRS1 mondo_mondo_0054782_medgen_c4693733_omim_617951 Leukodystrophy, hypomyelinating, 15 MONDO:MONDO:0054782,MedGen:C4693733,OMIM:617951 7 7 1.0000 condition_record_support_limited 20 0 2 Leukodystrophy,_hypomyelinating,_15 18 low_record_burden_interpretation_limited low_record_burden_gene EML1 mondo_mondo_0010873_medgen_c4284594_omim_600348 Band heterotopia of brain MONDO:MONDO:0010873,MedGen:C4284594,OMIM:600348 7 7 1.0000 condition_record_support_limited 20 0 1 Band_heterotopia_of_brain 10 low_record_burden_interpretation_limited low_record_burden_gene ELMO2 mondo_mondo_0011744_medgen_c1847197_omim_606893_orphanet_140436 Primary intraosseous venous malformation MONDO:MONDO:0011744,MedGen:C1847197,OMIM:606893,Orphanet:140436 7 7 1.0000 condition_record_support_limited 20 0 0 Primary_intraosseous_venous_malformation 7 low_record_burden_interpretation_limited low_record_burden_gene ELANE elane_related_disorder ELANE-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 4 ELANE-related_disorder 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF5A mondo_mondo_0859163_medgen_c5543554_omim_619376 Faundes-Banka syndrome MONDO:MONDO:0859163,MedGen:C5543554,OMIM:619376 7 7 1.0000 condition_record_support_limited 20 0 2 Faundes-Banka_syndrome 14 low_record_burden_interpretation_limited low_record_burden_gene EHMT2 kleefstra_like_syndrome Kleefstra-like syndrome . 7 7 1.0000 condition_record_support_limited 20 0 1 Kleefstra-like_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene EEF1A2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EEF1A2 eef1a2_related_developmental_and_degenerative_epileptic_dyskinetic_encephalopathy EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy . 7 7 1.0000 condition_record_support_limited 20 0 6 EEF1A2-related_developmental_and_degenerative_epileptic-dyskinetic_encephalopathy 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ECM1 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 5 not_provided 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DZIP1L mondo_mondo_0033281_medgen_c4539903_omim_617610 Polycystic kidney disease 5 MONDO:MONDO:0033281,MedGen:C4539903,OMIM:617610 7 7 1.0000 condition_record_support_limited 20 0 1 Polycystic_kidney_disease_5 17 low_record_burden_interpretation_limited low_record_burden_gene DYRK1A human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 7 7 1.0000 condition_record_support_limited 20 0 6 Seizure 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC1H1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 7 7 1.0000 condition_record_support_limited 20 0 6 Intellectual_disability 176 large_gene_or_donor_burden_stress_case donor_burden_stress DROSHA human_phenotype_ontology_hp_0030408_human_phenotype_ontology_hp_0040193_mondo_mondo_0016722_medgen_c0205898_orphanet_251909 Pineoblastoma Human_Phenotype_Ontology:HP:0030408,Human_Phenotype_Ontology:HP:0040193,MONDO:MONDO:0016722,MedGen:C0205898,Orphanet:251909 7 7 1.0000 condition_record_support_limited 20 0 0 Pineoblastoma 9 low_record_burden_interpretation_limited low_record_burden_gene DOP1A mondo_mondo_0014353_medgen_c4014371_omim_615816_orphanet_443811 Immunodeficiency 23 MONDO:MONDO:0014353,MedGen:C4014371,OMIM:615816,Orphanet:443811 7 7 1.0000 condition_record_support_limited 20 0 2 Immunodeficiency_23 8 low_record_burden_interpretation_limited low_record_burden_gene DOCK7 mondo_mondo_0011505_medgen_c1857970_omim_605019 Familial hypobetalipoproteinemia 2 MONDO:MONDO:0011505,MedGen:C1857970,OMIM:605019 7 7 1.0000 condition_record_support_limited 20 0 2 Familial_hypobetalipoproteinemia_2 111 large_gene_or_donor_burden_stress_case donor_burden_stress DOCK11 dock11_deficiency DOCK11 deficiency . 7 7 1.0000 condition_record_support_limited 20 0 5 DOCK11_deficiency 14 low_record_burden_interpretation_limited low_record_burden_gene DNMT3A ebv_positive_nodal_t_and_nk_cell_lymphoma EBV-positive nodal T- and NK-cell lymphoma . 7 7 1.0000 condition_record_support_limited 20 0 4 EBV-positive_nodal_T-_and_NK-cell_lymphoma 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1L mondo_mondo_0012543_medgen_c1853139_omim_610708_orphanet_98673 Optic atrophy 5 MONDO:MONDO:0012543,MedGen:C1853139,OMIM:610708,Orphanet:98673 7 7 1.0000 condition_record_support_limited 20 0 5 Optic_atrophy_5 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAH2 mondo_mondo_0033671_medgen_c5436791_omim_619094 Spermatogenic failure 45 MONDO:MONDO:0033671,MedGen:C5436791,OMIM:619094 7 7 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_45 7 low_record_burden_interpretation_limited low_record_burden_gene DNAAF4 mondo_mondo_0007487_medgen_c1851967_omim_127700 Dyslexia, susceptibility to, 1 MONDO:MONDO:0007487,MedGen:C1851967,OMIM:127700 7 7 1.0000 condition_record_support_limited 20 0 6 Dyslexia,_susceptibility_to,_1 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNA2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 4 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene DMXL2 mondo_mondo_0032858_medgen_c5231450_omim_618663 Developmental and epileptic encephalopathy, 81 MONDO:MONDO:0032858,MedGen:C5231450,OMIM:618663 7 7 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_81 61 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DLX3 mondo_mondo_0007093_medgen_c1863012_omim_104510_orphanet_100034_orphanet_88661 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism MONDO:MONDO:0007093,MedGen:C1863012,OMIM:104510,Orphanet:100034,Orphanet:88661 7 7 1.0000 condition_record_support_limited 20 0 5 Hypomaturation-hypoplastic_amelogenesis_imperfecta_with_taurodontism 8 low_record_burden_interpretation_limited low_record_burden_gene DGUOK dguok_related_disorder DGUOK-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 6 DGUOK-related_disorder 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DGKE human_phenotype_ontology_hp_0000793_mondo_mondo_0002461_medgen_c0017662 Mesangiocapillary glomerulonephritis Human_Phenotype_Ontology:HP:0000793,MONDO:MONDO:0002461,MedGen:C0017662 7 7 1.0000 condition_record_support_limited 20 0 5 Mesangiocapillary_glomerulonephritis 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DES cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 7 7 1.0000 condition_record_support_limited 20 0 7 Cardiovascular_phenotype 123 compact_adjacent_exon_block_opportunity local_compact_architecture DCTN1 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 7 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene DCDC2 dcdc2_related_disorder DCDC2-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 4 DCDC2-related_disorder 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCAF6 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene DAG1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 0 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP17A1 cyp17a1_related_disorder CYP17A1-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 7 CYP17A1-related_disorder 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYFIP2 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 4 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYBB granulomatous_disease_chronic_x_linked_variant Granulomatous disease, chronic, X-linked, variant MedGen:CN043100 7 7 1.0000 condition_record_support_limited 20 0 7 Granulomatous_disease,_chronic,_X-linked,_variant 206 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYB5R3 medgen_c2749559 METHEMOGLOBINEMIA, TYPE I MedGen:C2749559 7 7 1.0000 condition_record_support_limited 20 0 4 METHEMOGLOBINEMIA,_TYPE_I 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL3 cul3_related_disorder CUL3-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 3 CUL3-related_disorder 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSF mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 Neuronal ceroid lipofuscinosis MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 7 7 1.0000 condition_record_support_limited 20 0 1 Neuronal_ceroid_lipofuscinosis 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNND2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 0 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene CTNND1 medgen_c0810364_orphanet_1991 Cleft lip with or without cleft palate MedGen:C0810364,Orphanet:1991 7 7 1.0000 condition_record_support_limited 20 0 3 Cleft_lip_with_or_without_cleft_palate 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 human_phenotype_ontology_hp_0002885_mondo_mondo_0007959_mesh_d008527_medgen_c0025149_omim_155255_orphanet_616 Medulloblastoma Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616 7 7 1.0000 condition_record_support_limited 20 0 7 Medulloblastoma 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 7 7 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSTB condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 5 not_provided 20 compact_adjacent_exon_block_opportunity local_compact_architecture CRYGD condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 5 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene CRYAB mondo_mondo_0014073_medgen_c3554649_omim_615184_orphanet_154 Dilated cardiomyopathy 1II MONDO:MONDO:0014073,MedGen:C3554649,OMIM:615184,Orphanet:154 7 7 1.0000 condition_record_support_limited 20 0 2 Dilated_cardiomyopathy_1II 18 low_record_burden_interpretation_limited low_record_burden_gene CRTAP condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 5 not_provided 66 compact_adjacent_exon_block_opportunity local_compact_architecture CRIPT mondo_mondo_0014347_medgen_c4014339_omim_615789 Rothmund-Thomson syndrome type 3 MONDO:MONDO:0014347,MedGen:C4014339,OMIM:615789 7 7 1.0000 condition_record_support_limited 20 0 2 Rothmund-Thomson_syndrome_type_3 11 low_record_burden_interpretation_limited low_record_burden_gene CREBBP human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 7 7 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CPT2 cpt2_related_disorder CPT2-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 7 CPT2-related_disorder 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPOX mondo_mondo_0007369_medgen_c0162531_omim_121300_orphanet_79273 Hereditary coproporphyria MONDO:MONDO:0007369,MedGen:C0162531,OMIM:121300,Orphanet:79273 7 7 1.0000 condition_record_support_limited 20 0 4 Hereditary_coproporphyria 40 compact_adjacent_exon_block_opportunity local_compact_architecture CPLANE1 mondo_mondo_0008944_medgen_c4551568_omim_213300 Joubert syndrome 1 MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300 7 7 1.0000 condition_record_support_limited 20 0 5 Joubert_syndrome_1 343 large_gene_or_donor_burden_stress_case donor_burden_stress CP cp_related_disorder CP-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 3 CP-related_disorder 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COPB2 mondo_mondo_0859253_medgen_c5676992_omim_619884 Osteoporosis, childhood- or juvenile-onset, with developmental delay MONDO:MONDO:0859253,MedGen:C5676992,OMIM:619884 7 7 1.0000 condition_record_support_limited 20 0 2 Osteoporosis,_childhood-_or_juvenile-onset,_with_developmental_delay 9 low_record_burden_interpretation_limited low_record_burden_gene COPA mondo_mondo_0014629_medgen_c5975714_omim_ps616414_orphanet_444092 Autoimmune interstitial lung disease-arthritis syndrome MONDO:MONDO:0014629,MedGen:C5975714,OMIM:PS616414,Orphanet:444092 7 7 1.0000 condition_record_support_limited 20 0 1 Autoimmune_interstitial_lung_disease-arthritis_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene COL7A1 mondo_mondo_0007550_medgen_c0079295_omim_131760_orphanet_79396 Epidermolysis bullosa simplex 1A, generalized severe MONDO:MONDO:0007550,MedGen:C0079295,OMIM:131760,Orphanet:79396 7 7 1.0000 condition_record_support_limited 20 0 1 Epidermolysis_bullosa_simplex_1A,_generalized_severe 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 medgen_c2673612 Epidermolysis bullosa dystrophica inversa, autosomal recessive MedGen:C2673612 7 7 1.0000 condition_record_support_limited 20 0 6 Epidermolysis_bullosa_dystrophica_inversa,_autosomal_recessive 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL6A3 mondo_mondo_0958236_medgen_c5935583_omim_620728 Ullrich congenital muscular dystrophy 1C MONDO:MONDO:0958236,MedGen:C5935583,OMIM:620728 7 7 1.0000 condition_record_support_limited 20 0 5 Ullrich_congenital_muscular_dystrophy_1C 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL6A3 col6a3_related_disorder COL6A3-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 5 COL6A3-related_disorder 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL6A2 mondo_mondo_0009714_medgen_c1850671_omim_255600_orphanet_289380 Myosclerosis MONDO:MONDO:0009714,MedGen:C1850671,OMIM:255600,Orphanet:289380 7 7 1.0000 condition_record_support_limited 20 0 7 Myosclerosis 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A2 mondo_mondo_0100225_medgen_cn117976 Collagen 6-related myopathy MONDO:MONDO:0100225,MedGen:CN117976 7 7 1.0000 condition_record_support_limited 20 0 6 Collagen_6-related_myopathy 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL25A1 mondo_mondo_0014538_medgen_c4015552_omim_616219_orphanet_233_orphanet_91411 Fibrosis of extraocular muscles, congenital, 5 MONDO:MONDO:0014538,MedGen:C4015552,OMIM:616219,Orphanet:233,Orphanet:91411 7 7 1.0000 condition_record_support_limited 20 0 1 Fibrosis_of_extraocular_muscles,_congenital,_5 9 low_record_burden_interpretation_limited low_record_burden_gene COL11A1 mondo_mondo_0019354_medgen_c0265253_omim_ps108300_orphanet_828 Stickler syndrome MONDO:MONDO:0019354,MedGen:C0265253,OMIM:PS108300,Orphanet:828 7 7 1.0000 condition_record_support_limited 20 0 5 Stickler_syndrome 248 large_gene_or_donor_burden_stress_case donor_burden_stress COG8 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 2 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene COG5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 5 not_provided 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COCH mondo_mondo_0054860_medgen_c4748162_omim_618094 Hearing loss, autosomal recessive 110 MONDO:MONDO:0054860,MedGen:C4748162,OMIM:618094 7 7 1.0000 condition_record_support_limited 20 0 3 Hearing_loss,_autosomal_recessive_110 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COA8 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 2 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene CNTNAP2 mondo_mondo_0012801_medgen_c2677504_omim_612100 Autism, susceptibility to, 15 MONDO:MONDO:0012801,MedGen:C2677504,OMIM:612100 7 7 1.0000 condition_record_support_limited 20 0 7 Autism,_susceptibility_to,_15 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNOT1 condition_not_provided condition not provided .|MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 1 See_cases|not_provided 45 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CLN3 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 7 7 1.0000 condition_record_support_limited 20 0 7 Retinitis_pigmentosa 220 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLDN10 mondo_mondo_0060564_medgen_c4522164_omim_617671_orphanet_528105 HELIX syndrome MONDO:MONDO:0060564,MedGen:C4522164,OMIM:617671,Orphanet:528105 7 7 1.0000 condition_record_support_limited 20 0 0 HELIX_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene CLCNKB mondo_mondo_0015231_medgen_c0004775_omim_ps601678_orphanet_112 Bartter syndrome MONDO:MONDO:0015231,MedGen:C0004775,OMIM:PS601678,Orphanet:112 7 7 1.0000 condition_record_support_limited 20 0 5 Bartter_syndrome 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN5 clcn5_related_disorder CLCN5-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 3 CLCN5-related_disorder 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CIITA human_phenotype_ontology_hp_0001370_mondo_mondo_0008383_medgen_c0003873_omim_180300 Rheumatoid arthritis Human_Phenotype_Ontology:HP:0001370,MONDO:MONDO:0008383,MedGen:C0003873,OMIM:180300 7 7 1.0000 condition_record_support_limited 20 0 7 Rheumatoid_arthritis 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CIC mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 75 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CIC cic_related_disorder CIC-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 2 CIC-related_disorder 75 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHRNE human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 7 7 1.0000 condition_record_support_limited 20 0 5 Abnormality_of_the_musculature 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHEK2 inherited_breast_cancer_and_ovarian_cancer Inherited breast cancer and ovarian cancer . 7 7 1.0000 condition_record_support_limited 20 0 7 Inherited_breast_cancer_and_ovarian_cancer 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 mondo_mondo_0018630_medgen_c1333990_omim_ps120435_orphanet_443909 Hereditary nonpolyposis colon cancer MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:443909 7 7 1.0000 condition_record_support_limited 20 0 6 Hereditary_nonpolyposis_colon_cancer 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 medgen_c3469522 Breast cancer, susceptibility to MedGen:C3469522 7 7 1.0000 condition_record_support_limited 20 0 7 Breast_cancer,_susceptibility_to 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHD2 chd2_related_disorder CHD2-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 4 CHD2-related_disorder 368 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CFTR human_phenotype_ontology_hp_0011962_medgen_c4023106 Obstructive azoospermia Human_Phenotype_Ontology:HP:0011962,MedGen:C4023106 7 7 1.0000 condition_record_support_limited 20 0 6 Obstructive_azoospermia 1471 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP61 mondo_mondo_0957301_medgen_c5830562_omim_620409 Spermatogenic failure 84 MONDO:MONDO:0957301,MedGen:C5830562,OMIM:620409 7 7 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_84 7 low_record_burden_interpretation_limited low_record_burden_gene CETP medgen_c3149462_omim_143470 Hyperalphalipoproteinemia 1 MedGen:C3149462,OMIM:143470 7 7 1.0000 condition_record_support_limited 20 0 1 Hyperalphalipoproteinemia_1 10 low_record_burden_interpretation_limited low_record_burden_gene CERT1 mondo_mondo_0014599_medgen_c4225156_omim_616351 Intellectual disability, autosomal dominant 34 MONDO:MONDO:0014599,MedGen:C4225156,OMIM:616351 7 7 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_autosomal_dominant_34 13 low_record_burden_interpretation_limited low_record_burden_gene CERS1 mondo_mondo_0013463_medgen_c3151221_omim_613854_orphanet_860 Congenital heart defects, multiple types, 6 MONDO:MONDO:0013463,MedGen:C3151221,OMIM:613854,Orphanet:860 7 7 1.0000 condition_record_support_limited 20 0 4 Congenital_heart_defects,_multiple_types,_6 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP63 mondo_mondo_0013871_medgen_c3553582_omim_614728 Seckel syndrome 6 MONDO:MONDO:0013871,MedGen:C3553582,OMIM:614728 7 7 1.0000 condition_record_support_limited 20 0 1 Seckel_syndrome_6 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP63 mondo_mondo_0014922_medgen_c4310711_omim_617114 Myofibrillar myopathy 7 MONDO:MONDO:0014922,MedGen:C4310711,OMIM:617114 7 7 1.0000 condition_record_support_limited 20 0 0 Myofibrillar_myopathy_7 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP55 mondo_mondo_0009359_medgen_c1856053_omim_236500_orphanet_500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome MONDO:MONDO:0009359,MedGen:C1856053,OMIM:236500,Orphanet:500135 7 7 1.0000 condition_record_support_limited 20 0 3 Multinucleated_neurons-anhydramnios-renal_dysplasia-cerebellar_hypoplasia-hydranencephaly_syndrome 12 low_record_burden_interpretation_limited low_record_burden_gene CEP120 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 1 not_provided 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP104 condition_not_provided condition not provided .|MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 4 See_cases|not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKN1B condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 5 not_provided 114 compact_adjacent_exon_block_opportunity local_compact_architecture CDH11 mondo_mondo_0030674_medgen_c5676911_omim_619736 Teebi hypertelorism syndrome 2 MONDO:MONDO:0030674,MedGen:C5676911,OMIM:619736 7 7 1.0000 condition_record_support_limited 20 0 1 Teebi_hypertelorism_syndrome_2 14 low_record_burden_interpretation_limited low_record_burden_gene CDH1 mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 7 7 1.0000 condition_record_support_limited 20 0 6 Malignant_tumor_of_breast 622 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CD79A mondo_mondo_0013288_medgen_c3150751_omim_613501 Agammaglobulinemia 3, autosomal recessive MONDO:MONDO:0013288,MedGen:C3150751,OMIM:613501 7 7 1.0000 condition_record_support_limited 20 0 0 Agammaglobulinemia_3,_autosomal_recessive 8 low_record_burden_interpretation_limited low_record_burden_gene CCDC47 mondo_mondo_0032645_medgen_c4748898_omim_618268 Trichohepatoneurodevelopmental syndrome MONDO:MONDO:0032645,MedGen:C4748898,OMIM:618268 7 7 1.0000 condition_record_support_limited 20 0 4 Trichohepatoneurodevelopmental_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene CCBE1 mondo_mondo_0009337_medgen_c4012050_omim_235510_orphanet_2136 Hennekam lymphangiectasia-lymphedema syndrome 1 MONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510,Orphanet:2136 7 7 1.0000 condition_record_support_limited 20 0 4 Hennekam_lymphangiectasia-lymphedema_syndrome_1 18 low_record_burden_interpretation_limited low_record_burden_gene CAST mondo_mondo_0014574_medgen_c4225381_omim_616295_orphanet_444138 Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome MONDO:MONDO:0014574,MedGen:C4225381,OMIM:616295,Orphanet:444138 7 7 1.0000 condition_record_support_limited 20 0 0 Peeling_skin-leukonuchia-acral_punctate_keratoses-cheilitis-knuckle_pads_syndrome 51 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture CASK mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CARS1 mondo_mondo_0030047_medgen_c5394425_omim_618891 Microcephaly, developmental delay, and brittle hair syndrome MONDO:MONDO:0030047,MedGen:C5394425,OMIM:618891 7 7 1.0000 condition_record_support_limited 20 0 0 Microcephaly,_developmental_delay,_and_brittle_hair_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene CARD14 mondo_mondo_0100017_medgen_c0032027_omim_173200_orphanet_2897 Pityriasis rubra pilaris MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897 7 7 1.0000 condition_record_support_limited 20 0 7 Pityriasis_rubra_pilaris 16 low_record_burden_interpretation_limited low_record_burden_gene CARD11 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 3 not_provided 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAMK2D mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 7 7 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene CACNA1E mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 33 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1C cacna1c_related_disorder CACNA1C-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 3 CACNA1C-related_disorder 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1C mondo_mondo_0012742_medgen_c2678478_omim_611875_orphanet_130 Brugada syndrome 3 MONDO:MONDO:0012742,MedGen:C2678478,OMIM:611875,Orphanet:130 7 7 1.0000 condition_record_support_limited 20 0 7 Brugada_syndrome_3 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture C1ORF105 mondo_mondo_0040500_medgen_c4540521_omim_617816 Glycosylphosphatidylinositol biosynthesis defect 16 MONDO:MONDO:0040500,MedGen:C4540521,OMIM:617816 7 7 1.0000 condition_record_support_limited 20 0 1 Glycosylphosphatidylinositol_biosynthesis_defect_16 7 low_record_burden_interpretation_limited low_record_burden_gene C11ORF65 human_phenotype_ontology_hp_0011442_medgen_c4023354 Abnormal central motor function Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 7 7 1.0000 condition_record_support_limited 20 0 7 Abnormal_central_motor_function 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C10ORF105 mondo_mondo_0010168_medgen_c1568247_omim_276900_orphanet_231169_orphanet_886 Usher syndrome type 1 MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886 7 7 1.0000 condition_record_support_limited 20 0 5 Usher_syndrome_type_1 65 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture BSCL2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 7 7 1.0000 condition_record_support_limited 20 7 7 not_provided|not_specified 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BPNT2 mondo_mondo_0013561_medgen_c3279757_omim_614078_orphanet_280586 Chondrodysplasia with joint dislocations, gPAPP type MONDO:MONDO:0013561,MedGen:C3279757,OMIM:614078,Orphanet:280586 7 7 1.0000 condition_record_support_limited 20 0 1 Chondrodysplasia_with_joint_dislocations,_gPAPP_type 11 low_record_burden_interpretation_limited low_record_burden_gene BOLA3 mondo_mondo_0013675_medgen_c3280378_omim_614299_orphanet_401874 Multiple mitochondrial dysfunctions syndrome 2 MONDO:MONDO:0013675,MedGen:C3280378,OMIM:614299,Orphanet:401874 7 7 1.0000 condition_record_support_limited 20 0 3 Multiple_mitochondrial_dysfunctions_syndrome_2 7 low_record_burden_interpretation_limited low_record_burden_gene BMPR1B human_phenotype_ontology_hp_0009372_mondo_mondo_0007216_medgen_c1832702_omim_112600_orphanet_93396 Type A2 brachydactyly Human_Phenotype_Ontology:HP:0009372,MONDO:MONDO:0007216,MedGen:C1832702,OMIM:112600,Orphanet:93396 7 7 1.0000 condition_record_support_limited 20 0 7 Type_A2_brachydactyly 18 low_record_burden_interpretation_limited low_record_burden_gene BMP2 mondo_mondo_0031439_medgen_cn294045_omim_ps617877 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies MONDO:MONDO:0031439,MedGen:CN294045,OMIM:PS617877 7 7 1.0000 condition_record_support_limited 20 0 5 Short_stature,_facial_dysmorphism,_and_skeletal_anomalies_with_or_without_cardiac_anomalies 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMP15 mondo_mondo_0010349_medgen_c1845294_omim_300510_orphanet_243 Ovarian dysgenesis 2 MONDO:MONDO:0010349,MedGen:C1845294,OMIM:300510,Orphanet:243 7 7 1.0000 condition_record_support_limited 20 0 0 Ovarian_dysgenesis_2 11 low_record_burden_interpretation_limited low_record_burden_gene BIRC3 mesh_d003424_medgen_c0678202 Regional enteritis MeSH:D003424,MedGen:C0678202 7 7 1.0000 condition_record_support_limited 20 0 0 Regional_enteritis 7 low_record_burden_interpretation_limited low_record_burden_gene BIN1 mondo_mondo_0009709_medgen_c0410204_omim_255200_orphanet_169186 Myopathy, centronuclear, 2 MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200,Orphanet:169186 7 7 1.0000 condition_record_support_limited 20 0 0 Myopathy,_centronuclear,_2 8 low_record_burden_interpretation_limited low_record_burden_gene BCOR bcor_related_disorder BCOR-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 2 BCOR-related_disorder 114 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BCL11B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS10 mondo_mondo_0008854_medgen_c2936862_omim_209900 Bardet-Biedl syndrome 1 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 7 7 1.0000 condition_record_support_limited 20 0 6 Bardet-Biedl_syndrome_1 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BAP1 mondo_mondo_0011696_medgen_c1847723_omim_606661_orphanet_39044 Melanoma, uveal, susceptibility to, 2 MONDO:MONDO:0011696,MedGen:C1847723,OMIM:606661,Orphanet:39044 7 7 1.0000 condition_record_support_limited 20 0 7 Melanoma,_uveal,_susceptibility_to,_2 413 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control AVPR2 avpr2_related_disorder AVPR2-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 4 AVPR2-related_disorder 109 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AUTS2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATRX intellectual_disability_hypotonic_facies_syndrome_x_linked Intellectual disability-hypotonic facies syndrome, X-linked . 7 7 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability-hypotonic_facies_syndrome,_X-linked 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATRX mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATP6V1A condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 3 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A1 mondo_mondo_0020788_medgen_c5193023_omim_618314 Hypomagnesemia, seizures, and intellectual disability 2 MONDO:MONDO:0020788,MedGen:C5193023,OMIM:618314 7 7 1.0000 condition_record_support_limited 20 0 0 Hypomagnesemia,_seizures,_and_intellectual_disability_2 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATM human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 7 7 1.0000 condition_record_support_limited 20 0 6 Tip-toe_gait 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 Familial prostate cancer MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 7 7 1.0000 condition_record_support_limited 20 0 7 Familial_prostate_cancer 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATAD3A mondo_mondo_0032931_medgen_c5394137_omim_618810_orphanet_615954 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal MONDO:MONDO:0032931,MedGen:C5394137,OMIM:618810,Orphanet:615954 7 7 1.0000 condition_record_support_limited 20 0 4 Pontocerebellar_hypoplasia,_hypotonia,_and_respiratory_insufficiency_syndrome,_neonatal_lethal 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 0 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASPM mondo_mondo_0009617_medgen_c1855081_omim_251200_orphanet_2512 Microcephaly 1, primary, autosomal recessive MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512 7 7 1.0000 condition_record_support_limited 20 0 5 Microcephaly_1,_primary,_autosomal_recessive 348 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASPM mondo_mondo_0970945_medgen_c5935615_omim_620806 Developmental and epileptic encephalopathy 116 MONDO:MONDO:0970945,MedGen:C5935615,OMIM:620806 7 7 1.0000 condition_record_support_limited 20 0 5 Developmental_and_epileptic_encephalopathy_116 348 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASPH condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 1 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARX mondo_mondo_0010654_medgen_c0796250_omim_309510_orphanet_94083 Partington syndrome MONDO:MONDO:0010654,MedGen:C0796250,OMIM:309510,Orphanet:94083 7 7 1.0000 condition_record_support_limited 20 0 6 Partington_syndrome 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARSA mondo_mondo_0017730_medgen_c0751279_orphanet_309271 Metachromatic leukodystrophy, adult type MONDO:MONDO:0017730,MedGen:C0751279,Orphanet:309271 7 7 1.0000 condition_record_support_limited 20 0 6 Metachromatic_leukodystrophy,_adult_type 357 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARMC9 armc9_related_joubert_syndrome ARMC9-related Joubert syndrome . 7 7 1.0000 condition_record_support_limited 20 0 7 ARMC9-related_Joubert_syndrome 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARL6IP1 mondo_mondo_0014304_medgen_c3810294_omim_615685_orphanet_401780 Hereditary spastic paraplegia 61 MONDO:MONDO:0014304,MedGen:C3810294,OMIM:615685,Orphanet:401780 7 7 1.0000 condition_record_support_limited 20 0 2 Hereditary_spastic_paraplegia_61 7 low_record_burden_interpretation_limited low_record_burden_gene ARL6 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 7 7 1.0000 condition_record_support_limited 20 0 4 Bardet-Biedl_syndrome 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARL6 arl6_related_disorder ARL6-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 6 ARL6-related_disorder 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARL2BP mondo_mondo_0014186_medgen_c4747737_omim_615434_orphanet_791 Retinitis pigmentosa with or without situs inversus MONDO:MONDO:0014186,MedGen:C4747737,OMIM:615434,Orphanet:791 7 7 1.0000 condition_record_support_limited 20 0 5 Retinitis_pigmentosa_with_or_without_situs_inversus 16 low_record_burden_interpretation_limited low_record_burden_gene ARID2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 101 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1A arid1a_related_bafopathy ARID1A-related BAFopathy . 7 7 1.0000 condition_record_support_limited 20 0 4 ARID1A-related_BAFopathy 141 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARHGEF9 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARFGEF1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 7 7 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 79 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture APP mondo_mondo_0011583_medgen_c2751536_omim_605714_orphanet_100006_orphanet_324703_orphanet_324708_orphanet_324713_orphanet_324718_orphanet_324723_orphanet_85458 Cerebral amyloid angiopathy, APP-related MONDO:MONDO:0011583,MedGen:C2751536,OMIM:605714,Orphanet:100006,Orphanet:324703,Orphanet:324708,Orphanet:324713,Orphanet:324718,Orphanet:324723,Orphanet:85458 7 7 1.0000 condition_record_support_limited 20 0 7 Cerebral_amyloid_angiopathy,_APP-related 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOB mondo_mondo_0005439_medgen_c0020445_omim_ps143890 Familial hypercholesterolemia MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 7 7 1.0000 condition_record_support_limited 20 0 5 Familial_hypercholesterolemia 248 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture APC2 condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 0 not_provided 24 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AP4S1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 7 7 1.0000 condition_record_support_limited 20 7 5 not_provided|not_specified 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP1S1 mondo_mondo_0012251_medgen_c1836330_omim_609313_orphanet_171851 MEDNIK syndrome MONDO:MONDO:0012251,MedGen:C1836330,OMIM:609313,Orphanet:171851 7 7 1.0000 condition_record_support_limited 20 0 7 MEDNIK_syndrome 9 low_record_burden_interpretation_limited low_record_burden_gene ANGPTL3 mondo_mondo_0011505_medgen_c1857970_omim_605019 Familial hypobetalipoproteinemia 2 MONDO:MONDO:0011505,MedGen:C1857970,OMIM:605019 7 7 1.0000 condition_record_support_limited 20 0 2 Familial_hypobetalipoproteinemia_2 14 low_record_burden_interpretation_limited low_record_burden_gene ANG mondo_mondo_0012753_medgen_c2678468_omim_611895_orphanet_803 Amyotrophic lateral sclerosis type 9 MONDO:MONDO:0012753,MedGen:C2678468,OMIM:611895,Orphanet:803 7 7 1.0000 condition_record_support_limited 20 0 0 Amyotrophic_lateral_sclerosis_type_9 7 low_record_burden_interpretation_limited low_record_burden_gene ALPK3 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 7 7 1.0000 condition_record_support_limited 20 0 6 Hypertrophic_cardiomyopathy 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALMS1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 7 7 1.0000 condition_record_support_limited 20 0 4 Retinitis_pigmentosa 999 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALMS1 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 7 7 1.0000 condition_record_support_limited 20 0 2 Leber_congenital_amaurosis 999 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALG8 mondo_mondo_0019741_medgen_c5680285_orphanet_93587 Familial cystic renal disease MONDO:MONDO:0019741,MedGen:C5680285,Orphanet:93587 7 7 1.0000 condition_record_support_limited 20 0 5 Familial_cystic_renal_disease 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG8 human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Autosomal dominant polycystic liver disease Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 7 7 1.0000 condition_record_support_limited 20 0 4 Autosomal_dominant_polycystic_liver_disease 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG2 mondo_mondo_0011933_medgen_c1842836_omim_607906_orphanet_79326 ALG2-congenital disorder of glycosylation MONDO:MONDO:0011933,MedGen:C1842836,OMIM:607906,Orphanet:79326 7 7 1.0000 condition_record_support_limited 20 0 2 ALG2-congenital_disorder_of_glycosylation 11 low_record_burden_interpretation_limited low_record_burden_gene AIPL1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 7 7 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIFM1 mondo_mondo_0010437_medgen_c3151753_omim_300816_orphanet_238329 Severe X-linked mitochondrial encephalomyopathy MONDO:MONDO:0010437,MedGen:C3151753,OMIM:300816,Orphanet:238329 7 7 1.0000 condition_record_support_limited 20 0 2 Severe_X-linked_mitochondrial_encephalomyopathy 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGT condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 3 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene AGT mondo_mondo_0009970_medgen_c5681536_omim_267430_orphanet_97369 Renal tubular dysgenesis of genetic origin MONDO:MONDO:0009970,MedGen:C5681536,OMIM:267430,Orphanet:97369 7 7 1.0000 condition_record_support_limited 20 0 2 Renal_tubular_dysgenesis_of_genetic_origin 17 low_record_burden_interpretation_limited low_record_burden_gene AGO1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 7 7 1.0000 condition_record_support_limited 20 0 5 Intellectual_disability 16 low_record_burden_interpretation_limited low_record_burden_gene AFG3L2 mondo_mondo_0033549_medgen_c5436534_omim_618977 Optic atrophy 12 MONDO:MONDO:0033549,MedGen:C5436534,OMIM:618977 7 7 1.0000 condition_record_support_limited 20 0 5 Optic_atrophy_12 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFG3L2 human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 7 7 1.0000 condition_record_support_limited 20 0 5 Optic_atrophy 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFF4 mondo_mondo_0014609_medgen_c4085597_omim_616368_orphanet_444077 Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:MONDO:0014609,MedGen:C4085597,OMIM:616368,Orphanet:444077 7 7 1.0000 condition_record_support_limited 20 0 2 Cognitive_impairment_-_coarse_facies_-_heart_defects_-_obesity_-_pulmonary_involvement_-_short_stature_-_skeletal_dysplasia_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene AFF2 mondo_mondo_0010659_medgen_c0751157_omim_309548_orphanet_100973 FRAXE MONDO:MONDO:0010659,MedGen:C0751157,OMIM:309548,Orphanet:100973 7 7 1.0000 condition_record_support_limited 20 0 0 FRAXE 16 low_record_burden_interpretation_limited low_record_burden_gene ADGRG6 mondo_mondo_0014670_medgen_c4225303_omim_616503 Lethal congenital contracture syndrome 9 MONDO:MONDO:0014670,MedGen:C4225303,OMIM:616503 7 7 1.0000 condition_record_support_limited 20 0 3 Lethal_congenital_contracture_syndrome_9 8 low_record_burden_interpretation_limited low_record_burden_gene ADAMTS13 adamts13_related_disorder ADAMTS13-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 4 ADAMTS13-related_disorder 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAM22 mondo_mondo_0033370_medgen_c4693688_omim_617933 Developmental and epileptic encephalopathy, 61 MONDO:MONDO:0033370,MedGen:C4693688,OMIM:617933 7 7 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_61 9 low_record_burden_interpretation_limited low_record_burden_gene ACVRL1 human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Pulmonary arterial hypertension Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 7 7 1.0000 condition_record_support_limited 20 0 6 Pulmonary_arterial_hypertension 546 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTN2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 7 7 1.0000 condition_record_support_limited 20 7 1 not_provided|not_specified 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTL6B mondo_mondo_0032770_medgen_c5193115_omim_618470 Intellectual developmental disorder with severe speech and ambulation defects MONDO:MONDO:0032770,MedGen:C5193115,OMIM:618470 7 7 1.0000 condition_record_support_limited 20 0 2 Intellectual_developmental_disorder_with_severe_speech_and_ambulation_defects 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB actb_related_disorder ACTB-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 1 ACTB-related_disorder 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA2 mondo_mondo_0013452_medgen_c3151201_omim_613834_orphanet_404463 Multisystemic smooth muscle dysfunction syndrome MONDO:MONDO:0013452,MedGen:C3151201,OMIM:613834,Orphanet:404463 7 7 1.0000 condition_record_support_limited 20 0 5 Multisystemic_smooth_muscle_dysfunction_syndrome 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACSM3 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 7 7 1.0000 condition_record_support_limited 20 0 4 Neurodevelopmental_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene ACO2 mondo_mondo_0014571_medgen_c4225384_omim_616289 Optic atrophy 9 MONDO:MONDO:0014571,MedGen:C4225384,OMIM:616289 7 7 1.0000 condition_record_support_limited 20 0 2 Optic_atrophy_9 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCG8 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 7 7 1.0000 condition_record_support_limited 20 0 5 Cardiovascular_phenotype 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCG8 abcg8_related_disorder ABCG8-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 6 ABCG8-related_disorder 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB7 mondo_mondo_0010524_medgen_c1845028_omim_301310_orphanet_2802 X-linked sideroblastic anemia with ataxia MONDO:MONDO:0010524,MedGen:C1845028,OMIM:301310,Orphanet:2802 7 7 1.0000 condition_record_support_limited 20 0 2 X-linked_sideroblastic_anemia_with_ataxia 10 low_record_burden_interpretation_limited low_record_burden_gene ABCB4 mondo_mondo_0015762_medgen_c0268312_omim_ps211600_orphanet_172 Progressive familial intrahepatic cholestasis MONDO:MONDO:0015762,MedGen:C0268312,OMIM:PS211600,Orphanet:172 7 7 1.0000 condition_record_support_limited 20 0 6 Progressive_familial_intrahepatic_cholestasis 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA7 abca7_related_disorder ABCA7-related disorder . 7 7 1.0000 condition_record_support_limited 20 0 0 ABCA7-related_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene ABCA4 mondo_mondo_0000455_medgen_c0730290_orphanet_1871 Cone dystrophy MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 7 7 1.0000 condition_record_support_limited 20 0 4 Cone_dystrophy 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 7 7 1.0000 condition_record_support_limited 20 0 3 Cardiovascular_phenotype 76 large_gene_or_donor_burden_stress_case donor_burden_stress AASS condition_not_provided condition not provided MedGen:C3661900 7 7 1.0000 condition_record_support_limited 20 7 3 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF469 mondo_mondo_0007851_medgen_c1835677_omim_148300 Keratoconus 1 MONDO:MONDO:0007851,MedGen:C1835677,OMIM:148300 6 6 1.0000 condition_record_support_limited 20 0 0 Keratoconus_1 197 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZNF454 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF454 mondo_mondo_0009758_medgen_c1850362_omim_257270_orphanet_215 Congenital stationary night blindness 1B MONDO:MONDO:0009758,MedGen:C1850362,OMIM:257270,Orphanet:215 6 6 1.0000 condition_record_support_limited 20 0 4 Congenital_stationary_night_blindness_1B 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF408 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy 13 low_record_burden_interpretation_limited low_record_burden_gene ZNF292 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 1.0000 condition_record_support_limited 20 0 5 Intellectual_disability 99 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZNF276 fanca_related_disorder FANCA-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 FANCA-related_disorder 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZFPM2 mondo_mondo_0012431_medgen_c1857781_omim_610187_orphanet_2140 Diaphragmatic hernia 3 MONDO:MONDO:0012431,MedGen:C1857781,OMIM:610187,Orphanet:2140 6 6 1.0000 condition_record_support_limited 20 0 2 Diaphragmatic_hernia_3 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZFHX3 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 6 6 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 38 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZEB1 mondo_mondo_0013206_medgen_c2750448_omim_613270_orphanet_98974 Corneal dystrophy, Fuchs endothelial, 6 MONDO:MONDO:0013206,MedGen:C2750448,OMIM:613270,Orphanet:98974 6 6 1.0000 condition_record_support_limited 20 0 2 Corneal_dystrophy,_Fuchs_endothelial,_6 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZC4H2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB24 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WNT1 medgen_c3714945_omim_615221_orphanet_85193 OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO MedGen:C3714945,OMIM:615221,Orphanet:85193 6 6 1.0000 condition_record_support_limited 20 0 6 OSTEOPOROSIS,_EARLY-ONSET,_SUSCEPTIBILITY_TO 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WNK3 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 6 6 1.0000 condition_record_support_limited 20 0 4 Neurodevelopmental_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene WNK1 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 71 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture WIPF1 mondo_mondo_0013779_medgen_c3281001_omim_614493_orphanet_906 Wiskott-Aldrich syndrome 2 MONDO:MONDO:0013779,MedGen:C3281001,OMIM:614493,Orphanet:906 6 6 1.0000 condition_record_support_limited 20 0 0 Wiskott-Aldrich_syndrome_2 6 low_record_burden_interpretation_limited low_record_burden_gene WFS1 wfs1_related_spectrum_disorders WFS1-Related Spectrum Disorders . 6 6 1.0000 condition_record_support_limited 20 0 6 WFS1-Related_Spectrum_Disorders 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR74 rnu2_2_related_neurodevelopmental_disorder RNU2-2 related neurodevelopmental disorder . 6 6 1.0000 condition_record_support_limited 20 0 4 RNU2-2_related_neurodevelopmental_disorder 24 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture WDR72 human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Amelogenesis imperfecta Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 6 6 1.0000 condition_record_support_limited 20 0 2 Amelogenesis_imperfecta 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR26 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WASHC5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VWF human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 6 6 1.0000 condition_record_support_limited 20 0 4 Thrombocytopenia 454 large_gene_or_donor_burden_stress_case donor_burden_stress VWF human_phenotype_ontology_hp_0001928_medgen_c1846821 Abnormality of coagulation Human_Phenotype_Ontology:HP:0001928,MedGen:C1846821 6 6 1.0000 condition_record_support_limited 20 0 5 Abnormality_of_coagulation 454 large_gene_or_donor_burden_stress_case donor_burden_stress VWF human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 6 6 1.0000 condition_record_support_limited 20 0 6 Abnormal_bleeding 454 large_gene_or_donor_burden_stress_case donor_burden_stress VWA1 mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 Neuromuscular disease MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 6 6 1.0000 condition_record_support_limited 20 0 5 Neuromuscular_disease 17 low_record_burden_interpretation_limited low_record_burden_gene VPS13B human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 1.0000 condition_record_support_limited 20 0 5 Intellectual_disability 996 large_gene_or_donor_burden_stress_case donor_burden_stress VARS1 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VAMP2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 0 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene VAMP1 mondo_mondo_0032675_medgen_c5193027_omim_618323 Myasthenic syndrome, congenital, 25, presynaptic MONDO:MONDO:0032675,MedGen:C5193027,OMIM:618323 6 6 1.0000 condition_record_support_limited 20 0 3 Myasthenic_syndrome,_congenital,_25,_presynaptic 13 low_record_burden_interpretation_limited low_record_burden_gene USH2A human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 6 6 1.0000 condition_record_support_limited 20 0 3 Ear_malformation 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH1C mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 Usher syndrome MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 6 6 1.0000 condition_record_support_limited 20 0 5 Usher_syndrome 199 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USH1C human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 199 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UNC80 unc80_related_disorder UNC80-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 4 UNC80-related_disorder 147 large_gene_or_donor_burden_stress_case donor_burden_stress UMOD mondo_mondo_0008264_medgen_c4511620_orphanet_34149 Autosomal dominant medullary cystic kidney disease with or without hyperuricemia MONDO:MONDO:0008264,MedGen:C4511620,Orphanet:34149 6 6 1.0000 condition_record_support_limited 20 0 5 Autosomal_dominant_medullary_cystic_kidney_disease_with_or_without_hyperuricemia 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UFC1 mondo_mondo_0060752_medgen_c4748081_omim_618076 Neurodevelopmental disorder with spasticity and poor growth MONDO:MONDO:0060752,MedGen:C4748081,OMIM:618076 6 6 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_spasticity_and_poor_growth 6 low_record_burden_interpretation_limited low_record_burden_gene UBAP2L condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided|not_specified 14 low_record_burden_interpretation_limited low_record_burden_gene UBA5 mondo_mondo_0014934_medgen_c4310699_omim_617133 Spinocerebellar ataxia, autosomal recessive 24 MONDO:MONDO:0014934,MedGen:C4310699,OMIM:617133 6 6 1.0000 condition_record_support_limited 20 0 5 Spinocerebellar_ataxia,_autosomal_recessive_24 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture U2AF2 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene U2AF2 mondo_mondo_0957810_medgen_c5882698_omim_620535 Developmental delay, dysmorphic facies, and brain anomalies MONDO:MONDO:0957810,MedGen:C5882698,OMIM:620535 6 6 1.0000 condition_record_support_limited 20 0 3 Developmental_delay,_dysmorphic_facies,_and_brain_anomalies 12 low_record_burden_interpretation_limited low_record_burden_gene TYR human_phenotype_ontology_hp_0001022_mondo_mondo_0043209_medgen_c0001916 Albinism Human_Phenotype_Ontology:HP:0001022,MONDO:MONDO:0043209,MedGen:C0001916 6 6 1.0000 condition_record_support_limited 20 0 6 Albinism 311 compact_adjacent_exon_block_opportunity local_compact_architecture TYR human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Abnormality of the skin Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 6 6 1.0000 condition_record_support_limited 20 0 6 Abnormality_of_the_skin 311 compact_adjacent_exon_block_opportunity local_compact_architecture TYK2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 3 not_provided 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TXNDC15 mondo_mondo_0030819_medgen_c5676989_omim_619879 Meckel syndrome 14 MONDO:MONDO:0030819,MedGen:C5676989,OMIM:619879 6 6 1.0000 condition_record_support_limited 20 0 4 Meckel_syndrome_14 7 low_record_burden_interpretation_limited low_record_burden_gene TWNK mondo_mondo_0014504_medgen_c4015307_omim_616138_orphanet_2855 Perrault syndrome 5 MONDO:MONDO:0014504,MedGen:C4015307,OMIM:616138,Orphanet:2855 6 6 1.0000 condition_record_support_limited 20 0 4 Perrault_syndrome_5 82 compact_adjacent_exon_block_opportunity local_compact_architecture TUSC3 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene TUBB mondo_mondo_0020738_medgen_c4551592_omim_156610 Multiple benign circumferential skin creases on limbs 1 MONDO:MONDO:0020738,MedGen:C4551592,OMIM:156610 6 6 1.0000 condition_record_support_limited 20 0 3 Multiple_benign_circumferential_skin_creases_on_limbs_1 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA4A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene TUBA4A mondo_mondo_0979231_medgen_c6012734_omim_621231 Oocyte/zygote/embryo maturation arrest 23 MONDO:MONDO:0979231,MedGen:C6012734,OMIM:621231 6 6 1.0000 condition_record_support_limited 20 0 0 Oocyte/zygote/embryo_maturation_arrest_23 19 low_record_burden_interpretation_limited low_record_burden_gene TUBA1A mondo_mondo_0018763_medgen_c5568850_orphanet_467166 Tubulinopathy-associated dysgyria MONDO:MONDO:0018763,MedGen:C5568850,Orphanet:467166 6 6 1.0000 condition_record_support_limited 20 0 5 Tubulinopathy-associated_dysgyria 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Lissencephaly Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 6 6 1.0000 condition_record_support_limited 20 0 5 Lissencephaly 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTR mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 6 6 1.0000 condition_record_support_limited 20 0 6 Charcot-Marie-Tooth_disease 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTN mondo_mondo_0013262_medgen_c1834481_omim_613426_orphanet_154_orphanet_54260 Dilated cardiomyopathy 1S MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426,Orphanet:154,Orphanet:54260 6 6 1.0000 condition_record_support_limited 20 0 2 Dilated_cardiomyopathy_1S 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTI2 mondo_mondo_0014238_medgen_c3809853_omim_615541_orphanet_391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome MONDO:MONDO:0014238,MedGen:C3809853,OMIM:615541,Orphanet:391307 6 6 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability-short_stature-behavioral_abnormalities-facial_dysmorphism_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene TTI1 mondo_mondo_0957531_medgen_c5830624_omim_620445 Neurodevelopmental disorder with microcephaly and movement abnormalities MONDO:MONDO:0957531,MedGen:C5830624,OMIM:620445 6 6 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_microcephaly_and_movement_abnormalities 9 low_record_burden_interpretation_limited low_record_burden_gene TTC21A mondo_mondo_0032744_medgen_c5193091_omim_618429 Spermatogenic failure 37 MONDO:MONDO:0032744,MedGen:C5193091,OMIM:618429 6 6 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_37 8 low_record_burden_interpretation_limited low_record_burden_gene TTBK2 mondo_mondo_0011464_medgen_c1858351_omim_604432_orphanet_98767 Spinocerebellar ataxia type 11 MONDO:MONDO:0011464,MedGen:C1858351,OMIM:604432,Orphanet:98767 6 6 1.0000 condition_record_support_limited 20 0 1 Spinocerebellar_ataxia_type_11 10 low_record_burden_interpretation_limited low_record_burden_gene TSPEAR mondo_mondo_0013929_medgen_c3553932_omim_614861_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 98 MONDO:MONDO:0013929,MedGen:C3553932,OMIM:614861,Orphanet:90636 6 6 1.0000 condition_record_support_limited 20 0 6 Autosomal_recessive_nonsyndromic_hearing_loss_98 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSHR mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 6 6 1.0000 condition_record_support_limited 20 0 2 Ovarian_cancer 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN54 mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 Pontoneocerebellar hypoplasia MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 6 6 1.0000 condition_record_support_limited 20 0 4 Pontoneocerebellar_hypoplasia 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN54 human_phenotype_ontology_hp_0006955_human_phenotype_ontology_hp_0007168_medgen_c1859341 Olivopontocerebellar hypoplasia Human_Phenotype_Ontology:HP:0006955,Human_Phenotype_Ontology:HP:0007168,MedGen:C1859341 6 6 1.0000 condition_record_support_limited 20 0 2 Olivopontocerebellar_hypoplasia 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN2 mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 Pontoneocerebellar hypoplasia MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 6 6 1.0000 condition_record_support_limited 20 0 6 Pontoneocerebellar_hypoplasia 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 trpv4_related_disorder TRPV4-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 5 TRPV4-related_disorder 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 mondo_mondo_0008473_medgen_c3159322_omim_184095_orphanet_263482 Spondyloepimetaphyseal dysplasia, Maroteaux type MONDO:MONDO:0008473,MedGen:C3159322,OMIM:184095,Orphanet:263482 6 6 1.0000 condition_record_support_limited 20 0 6 Spondyloepimetaphyseal_dysplasia,_Maroteaux_type 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 mondo_mondo_0008408_medgen_c0751335_omim_181405_orphanet_431255 Scapuloperoneal spinal muscular atrophy MONDO:MONDO:0008408,MedGen:C0751335,OMIM:181405,Orphanet:431255 6 6 1.0000 condition_record_support_limited 20 0 6 Scapuloperoneal_spinal_muscular_atrophy 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPM1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRNT1 trnt1_related_disorder TRNT1-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 5 TRNT1-related_disorder 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRNT1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 1.0000 condition_record_support_limited 20 0 5 Retinal_dystrophy 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIP12 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 98 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRIP12 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 98 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRIM8 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC2L mondo_mondo_0032681_medgen_c5193033_omim_618331 Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis MONDO:MONDO:0032681,MedGen:C5193033,OMIM:618331 6 6 1.0000 condition_record_support_limited 20 0 1 Encephalopathy,_progressive,_early-onset,_with_episodic_rhabdomyolysis 23 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture TRAF3IP1 mondo_mondo_0014712_medgen_c4225263_omim_616629_orphanet_3156 Senior-Loken syndrome 9 MONDO:MONDO:0014712,MedGen:C4225263,OMIM:616629,Orphanet:3156 6 6 1.0000 condition_record_support_limited 20 0 2 Senior-Loken_syndrome_9 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPR mondo_mondo_0008828_medgen_c1859690_omim_208250_orphanet_2848 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome MONDO:MONDO:0008828,MedGen:C1859690,OMIM:208250,Orphanet:2848 6 6 1.0000 condition_record_support_limited 20 0 0 Camptodactyly-arthropathy-coxa_vara-pericarditis_syndrome 9 low_record_burden_interpretation_limited low_record_burden_gene TP63 mondo_mondo_0029145_medgen_c1851878_omim_618149 Orofacial cleft 8 MONDO:MONDO:0029145,MedGen:C1851878,OMIM:618149 6 6 1.0000 condition_record_support_limited 20 0 5 Orofacial_cleft_8 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP53 mondo_mondo_0005411_medgen_c0153452 Gallbladder cancer MONDO:MONDO:0005411,MedGen:C0153452 6 6 1.0000 condition_record_support_limited 20 0 6 Gallbladder_cancer 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 6 6 1.0000 condition_record_support_limited 20 0 6 Carcinoma_of_colon 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TOPORS mondo_mondo_0012367_medgen_c1835923_omim_609923_orphanet_791 Retinitis pigmentosa 31 MONDO:MONDO:0012367,MedGen:C1835923,OMIM:609923,Orphanet:791 6 6 1.0000 condition_record_support_limited 20 0 5 Retinitis_pigmentosa_31 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TOP3A mondo_mondo_0020628_medgen_c4748176_omim_618097 Microcephaly, growth restriction, and increased sister chromatid exchange 2 MONDO:MONDO:0020628,MedGen:C4748176,OMIM:618097 6 6 1.0000 condition_record_support_limited 20 0 4 Microcephaly,_growth_restriction,_and_increased_sister_chromatid_exchange_2 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TONSL tonsl_related_disorder TONSL-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 3 TONSL-related_disorder 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TOE1 mondo_mondo_0012041_medgen_c3272841_omim_608456_orphanet_220460_orphanet_247798 Familial adenomatous polyposis 2 MONDO:MONDO:0012041,MedGen:C3272841,OMIM:608456,Orphanet:220460,Orphanet:247798 6 6 1.0000 condition_record_support_limited 20 0 3 Familial_adenomatous_polyposis_2 38 compact_adjacent_exon_block_opportunity local_compact_architecture TNPO3 mondo_mondo_0012034_medgen_c1842062_omim_608423_orphanet_55595 Autosomal dominant limb-girdle muscular dystrophy type 1F MONDO:MONDO:0012034,MedGen:C1842062,OMIM:608423,Orphanet:55595 6 6 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_limb-girdle_muscular_dystrophy_type_1F 9 low_record_burden_interpretation_limited low_record_burden_gene TNNT2 efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 6 6 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNI3 human_phenotype_ontology_hp_0001723_mondo_mondo_0005201_mesh_d002313_medgen_c0007196_orphanet_217632 Restrictive cardiomyopathy Human_Phenotype_Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196,Orphanet:217632 6 6 1.0000 condition_record_support_limited 20 0 5 Restrictive_cardiomyopathy 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNI2 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene TNFRSF11B mondo_mondo_0009394_medgen_c0268414_omim_239000_orphanet_2801 Hyperphosphatasemia with bone disease MONDO:MONDO:0009394,MedGen:C0268414,OMIM:239000,Orphanet:2801 6 6 1.0000 condition_record_support_limited 20 0 0 Hyperphosphatasemia_with_bone_disease 11 low_record_burden_interpretation_limited low_record_burden_gene TMPRSS6 human_phenotype_ontology_hp_0001935_mondo_mondo_0001245_medgen_c5194182 Microcytic anemia Human_Phenotype_Ontology:HP:0001935,MONDO:MONDO:0001245,MedGen:C5194182 6 6 1.0000 condition_record_support_limited 20 0 2 Microcytic_anemia 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMPPE mondo_mondo_0009260_medgen_c0268271_omim_230500_orphanet_354_orphanet_79255 Infantile GM1 gangliosidosis MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500,Orphanet:354,Orphanet:79255 6 6 1.0000 condition_record_support_limited 20 0 5 Infantile_GM1_gangliosidosis 13 low_record_burden_interpretation_limited low_record_burden_gene TMPPE mondo_mondo_0018149_medgen_c0085131_orphanet_354 GM1 gangliosidosis MONDO:MONDO:0018149,MedGen:C0085131,Orphanet:354 6 6 1.0000 condition_record_support_limited 20 0 6 GM1_gangliosidosis 13 low_record_burden_interpretation_limited low_record_burden_gene TMEM38B condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene TMC1 medgen_c0011053 Deafness MedGen:C0011053 6 6 1.0000 condition_record_support_limited 20 0 4 Deafness 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TLK2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TIMMDC1 mondo_mondo_0032634_medgen_c4748838_omim_618251 Mitochondrial complex I deficiency, nuclear type 31 MONDO:MONDO:0032634,MedGen:C4748838,OMIM:618251 6 6 1.0000 condition_record_support_limited 20 0 3 Mitochondrial_complex_I_deficiency,_nuclear_type_31 8 low_record_burden_interpretation_limited low_record_burden_gene TIMM50 mondo_mondo_0044724_medgen_c4540171_omim_617698_orphanet_505216 3-methylglutaconic aciduria type 9 MONDO:MONDO:0044724,MedGen:C4540171,OMIM:617698,Orphanet:505216 6 6 1.0000 condition_record_support_limited 20 0 4 3-methylglutaconic_aciduria_type_9 6 low_record_burden_interpretation_limited low_record_burden_gene TIGD1 mondo_mondo_0009668_medgen_c1854678_omim_253290_orphanet_33108 Lethal multiple pterygium syndrome MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108 6 6 1.0000 condition_record_support_limited 20 0 5 Lethal_multiple_pterygium_syndrome 14 low_record_burden_interpretation_limited low_record_burden_gene TIGD1 mondo_mondo_0009926_medgen_c0265261_omim_265000_orphanet_2990 Autosomal recessive multiple pterygium syndrome MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000,Orphanet:2990 6 6 1.0000 condition_record_support_limited 20 0 6 Autosomal_recessive_multiple_pterygium_syndrome 14 low_record_burden_interpretation_limited low_record_burden_gene THRB human_phenotype_ontology_hp_0000836_human_phenotype_ontology_hp_0008241_mondo_mondo_0004425_medgen_c0020550 Hyperthyroidism Human_Phenotype_Ontology:HP:0000836,Human_Phenotype_Ontology:HP:0008241,MONDO:MONDO:0004425,MedGen:C0020550 6 6 1.0000 condition_record_support_limited 20 0 5 Hyperthyroidism 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture THOC2 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR2 mondo_mondo_0007576_medgen_c0546837_omim_133239_orphanet_99977 Malignant tumor of esophagus MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239,Orphanet:99977 6 6 1.0000 condition_record_support_limited 20 0 5 Malignant_tumor_of_esophagus 130 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBI mondo_mondo_0012043_medgen_c0339278_omim_608470_orphanet_98961 Reis-Bucklers' corneal dystrophy MONDO:MONDO:0012043,MedGen:C0339278,OMIM:608470,Orphanet:98961 6 6 1.0000 condition_record_support_limited 20 0 3 Reis-Bucklers'_corneal_dystrophy 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFB2 mondo_mondo_0018954_medgen_c2697932_omim_ps609192_orphanet_60030 Loeys-Dietz syndrome MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030 6 6 1.0000 condition_record_support_limited 20 0 5 Loeys-Dietz_syndrome 112 compact_adjacent_exon_block_opportunity local_compact_architecture TGFB1 human_phenotype_ontology_hp_0100252_mondo_mondo_0007542_medgen_c0011989_omim_ps131300_orphanet_1328 Diaphyseal dysplasia Human_Phenotype_Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:PS131300,Orphanet:1328 6 6 1.0000 condition_record_support_limited 20 0 2 Diaphyseal_dysplasia 11 low_record_burden_interpretation_limited low_record_burden_gene TFE3 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 3 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TEX9 mondo_mondo_0030070_medgen_c5394551_omim_618948 Heterotaxy, visceral, 9, autosomal, with male infertility MONDO:MONDO:0030070,MedGen:C5394551,OMIM:618948 6 6 1.0000 condition_record_support_limited 20 0 2 Heterotaxy,_visceral,_9,_autosomal,_with_male_infertility 7 low_record_burden_interpretation_limited low_record_burden_gene TEX14 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 6 6 1.0000 condition_record_support_limited 20 0 0 Non-obstructive_azoospermia 10 low_record_burden_interpretation_limited low_record_burden_gene TEX11 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 6 6 1.0000 condition_record_support_limited 20 0 0 Male_infertility 13 low_record_burden_interpretation_limited low_record_burden_gene TET3 tet3_deficiency TET3 deficiency . 6 6 1.0000 condition_record_support_limited 20 0 6 TET3_deficiency 52 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TET3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 52 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TDP2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 0 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene TCIRG1 tcirg1_related_disorder TCIRG1-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 TCIRG1-related_disorder 279 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF7L2 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene TCF4 tcf4_related_disorder TCF4-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 3 TCF4-related_disorder 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCAP condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 5 not_provided 35 compact_adjacent_exon_block_opportunity local_compact_architecture TBX5 tbx5_related_disorder TBX5-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 5 TBX5-related_disorder 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX20 mondo_mondo_0012654_medgen_c1969657_omim_611363_orphanet_1478 Atrial septal defect 4 MONDO:MONDO:0012654,MedGen:C1969657,OMIM:611363,Orphanet:1478 6 6 1.0000 condition_record_support_limited 20 0 1 Atrial_septal_defect_4 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBR1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBL1XR1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCE tbce_related_disorder TBCE-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 5 TBCE-related_disorder 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TARS2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene TAPBPL mondo_mondo_0032675_medgen_c5193027_omim_618323 Myasthenic syndrome, congenital, 25, presynaptic MONDO:MONDO:0032675,MedGen:C5193027,OMIM:618323 6 6 1.0000 condition_record_support_limited 20 0 3 Myasthenic_syndrome,_congenital,_25,_presynaptic 13 low_record_burden_interpretation_limited low_record_burden_gene TAOK1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 6 6 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 72 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TANC2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 6 6 1.0000 condition_record_support_limited 20 0 3 Neurodevelopmental_disorder 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TAB2 tab2_related_disorder TAB2-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 5 TAB2-related_disorder 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYT2 mondo_mondo_0014468_medgen_c4015038_omim_616040_orphanet_590 Congenital myasthenic syndrome 7 MONDO:MONDO:0014468,MedGen:C4015038,OMIM:616040,Orphanet:590 6 6 1.0000 condition_record_support_limited 20 0 1 Congenital_myasthenic_syndrome_7 17 low_record_burden_interpretation_limited low_record_burden_gene SURF1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUPT16H mondo_mondo_0859179_medgen_c5551361_omim_619480 Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum MONDO:MONDO:0859179,MedGen:C5551361,OMIM:619480 6 6 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_dysmorphic_facies_and_thin_corpus_callosum 8 low_record_burden_interpretation_limited low_record_burden_gene SUOX suox_related_disorder SUOX-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 SUOX-related_disorder 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP2 mondo_mondo_0033646_medgen_c5436695_omim_619055 Mitochondrial complex IV deficiency, nuclear type 12 MONDO:MONDO:0033646,MedGen:C5436695,OMIM:619055 6 6 1.0000 condition_record_support_limited 20 0 5 Mitochondrial_complex_IV_deficiency,_nuclear_type_12 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STX1A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 1.0000 condition_record_support_limited 20 0 6 Intellectual_disability 6 low_record_burden_interpretation_limited low_record_burden_gene STAT6 mondo_mondo_0957807_medgen_c5848786_omim_620532 Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections MONDO:MONDO:0957807,MedGen:C5848786,OMIM:620532 6 6 1.0000 condition_record_support_limited 20 0 0 Hyper-IgE_syndrome_6,_autosomal_dominant,_with_recurrent_infections 6 low_record_burden_interpretation_limited low_record_burden_gene STAT1 mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 6 6 1.0000 condition_record_support_limited 20 0 2 Inherited_Immunodeficiency_Diseases 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAG2 stag2_related_disorder STAG2-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 2 STAG2-related_disorder 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SRP54 mondo_mondo_0032899_medgen_c5203411_omim_618752_orphanet_675767 Neutropenia, severe congenital, 8, autosomal dominant MONDO:MONDO:0032899,MedGen:C5203411,OMIM:618752,Orphanet:675767 6 6 1.0000 condition_record_support_limited 20 0 4 Neutropenia,_severe_congenital,_8,_autosomal_dominant 7 low_record_burden_interpretation_limited low_record_burden_gene SRD5A3 mondo_mondo_0012991_medgen_c2675185_omim_612713 Kahrizi syndrome MONDO:MONDO:0012991,MedGen:C2675185,OMIM:612713 6 6 1.0000 condition_record_support_limited 20 0 5 Kahrizi_syndrome 23 compact_adjacent_exon_block_opportunity local_compact_architecture SPTBN4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 33 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTAN1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 131 large_gene_or_donor_burden_stress_case donor_burden_stress SPTAN1 mondo_mondo_0957815_medgen_c5882702_omim_620540 Developmental delay with or without epilepsy MONDO:MONDO:0957815,MedGen:C5882702,OMIM:620540 6 6 1.0000 condition_record_support_limited 20 0 3 Developmental_delay_with_or_without_epilepsy 131 large_gene_or_donor_burden_stress_case donor_burden_stress SPOUT1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 6 6 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene SPI1 pu_1_mutated_agammaglobulinemia PU.1-mutated agammaglobulinemia . 6 6 1.0000 condition_record_support_limited 20 0 5 PU.1-mutated_agammaglobulinemia 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX10 mondo_mondo_0008670_medgen_c1847800_omim_193500_orphanet_894 Waardenburg syndrome type 1 MONDO:MONDO:0008670,MedGen:C1847800,OMIM:193500,Orphanet:894 6 6 1.0000 condition_record_support_limited 20 0 2 Waardenburg_syndrome_type_1 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SORD condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 3 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene SOCS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided|not_specified 13 low_record_burden_interpretation_limited low_record_burden_gene SNX10 mondo_mondo_0014040_medgen_c3554478_omim_615085_orphanet_667 Autosomal recessive osteopetrosis 8 MONDO:MONDO:0014040,MedGen:C3554478,OMIM:615085,Orphanet:667 6 6 1.0000 condition_record_support_limited 20 0 3 Autosomal_recessive_osteopetrosis_8 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNRPB mondo_mondo_0007301_medgen_c0265342_omim_117650_orphanet_1393 Cerebro-costo-mandibular syndrome MONDO:MONDO:0007301,MedGen:C0265342,OMIM:117650,Orphanet:1393 6 6 1.0000 condition_record_support_limited 20 0 1 Cerebro-costo-mandibular_syndrome 9 low_record_burden_interpretation_limited low_record_burden_gene SNRNP200 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 6 6 1.0000 condition_record_support_limited 20 0 3 Retinitis_pigmentosa 17 low_record_burden_interpretation_limited low_record_burden_gene SNF8 snf8_associated_disease SNF8-associated disease . 6 6 1.0000 condition_record_support_limited 20 0 6 SNF8-associated_disease 6 low_record_burden_interpretation_limited low_record_burden_gene SMPX condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCE1 mondo_mondo_0014838_medgen_c4310788_omim_616938_orphanet_1465 Coffin-Siris syndrome 5 MONDO:MONDO:0014838,MedGen:C4310788,OMIM:616938,Orphanet:1465 6 6 1.0000 condition_record_support_limited 20 0 2 Coffin-Siris_syndrome_5 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCC1 mondo_mondo_0016349_medgen_c0020256_omim_ps236600_orphanet_2185 Congenital hydrocephalus MONDO:MONDO:0016349,MedGen:C0020256,OMIM:PS236600,Orphanet:2185 6 6 1.0000 condition_record_support_limited 20 0 2 Congenital_hydrocephalus 12 low_record_burden_interpretation_limited low_record_burden_gene SMARCA4 smarca4_related_disorder SMARCA4-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 5 SMARCA4-related_disorder 321 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD4 smad4_related_disorder SMAD4-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 SMAD4-related_disorder 300 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SMAD3 mondo_mondo_0018954_medgen_c2697932_omim_ps609192_orphanet_60030 Loeys-Dietz syndrome MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030 6 6 1.0000 condition_record_support_limited 20 0 6 Loeys-Dietz_syndrome 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLF2 mondo_mondo_0859575_medgen_c5774281_omim_620184 Atelis syndrome 1 MONDO:MONDO:0859575,MedGen:C5774281,OMIM:620184 6 6 1.0000 condition_record_support_limited 20 0 0 Atelis_syndrome_1 6 low_record_burden_interpretation_limited low_record_burden_gene SLCO1B3 mondo_mondo_0009379_medgen_c0220991_omim_237450_orphanet_3111 Rotor syndrome MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111 6 6 1.0000 condition_record_support_limited 20 0 3 Rotor_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene SLC7A9 slc7a9_related_disorder SLC7A9-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 4 SLC7A9-related_disorder 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC7A9 medgen_c3671878 Cystine urolithiasis MedGen:C3671878 6 6 1.0000 condition_record_support_limited 20 0 3 Cystine_urolithiasis 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC7A7 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 6 not_provided 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 6 6 1.0000 condition_record_support_limited 20 0 4 Seizure 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC5A2 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC52A3 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC52A3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC30A9 mondo_mondo_0044726_medgen_c4539828_omim_617595_orphanet_505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome MONDO:MONDO:0044726,MedGen:C4539828,OMIM:617595,Orphanet:505242 6 6 1.0000 condition_record_support_limited 20 0 1 Psychomotor_regression-oculomotor_apraxia-movement_disorder-nephropathy_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene SLC2A2 slc2a2_related_disorder SLC2A2-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 3 SLC2A2-related_disorder 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A2 slc26a2_related_disorder SLC26A2-related disorder MedGen:CN239404 6 6 1.0000 condition_record_support_limited 20 0 6 SLC26A2-related_disorder 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A4 mondo_mondo_0012238_medgen_c1836460_omim_609283 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283 6 6 1.0000 condition_record_support_limited 20 0 4 Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_2 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A26 mondo_mondo_0014775_medgen_c5569081_omim_616794_orphanet_466784 Combined oxidative phosphorylation deficiency 28 MONDO:MONDO:0014775,MedGen:C5569081,OMIM:616794,Orphanet:466784 6 6 1.0000 condition_record_support_limited 20 0 1 Combined_oxidative_phosphorylation_deficiency_28 7 low_record_burden_interpretation_limited low_record_burden_gene SLC22A5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 285 compact_adjacent_exon_block_opportunity local_compact_architecture SLC16A1 mondo_mondo_0012396_medgen_c1864902_omim_610021_orphanet_165991 Exercise-induced hyperinsulinism MONDO:MONDO:0012396,MedGen:C1864902,OMIM:610021,Orphanet:165991 6 6 1.0000 condition_record_support_limited 20 0 2 Exercise-induced_hyperinsulinism 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A6 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 6 6 1.0000 condition_record_support_limited 20 0 6 Charcot-Marie-Tooth_disease 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A2 condition_not_provided condition not provided .|MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 3 See_cases|not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC10A7 mondo_mondo_0032703_medgen_c5193055_omim_618363 Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis MONDO:MONDO:0032703,MedGen:C5193055,OMIM:618363 6 6 1.0000 condition_record_support_limited 20 0 1 Short_stature,_amelogenesis_imperfecta,_and_skeletal_dysplasia_with_scoliosis 7 low_record_burden_interpretation_limited low_record_burden_gene SLC10A1 slc10a1_related_disorder SLC10A1-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 2 SLC10A1-related_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene SKIC2 skic2_related_disorder SKIC2-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 5 SKIC2-related_disorder 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SIX1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 5 not_provided 25 compact_adjacent_exon_block_opportunity local_compact_architecture SIK1 mondo_mondo_0014595_medgen_c4225360_omim_616341 Developmental and epileptic encephalopathy, 30 MONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341 6 6 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_30 8 low_record_burden_interpretation_limited low_record_burden_gene SHH shh_related_disorder SHH-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 4 SHH-related_disorder 125 compact_adjacent_exon_block_opportunity local_compact_architecture SH3TC2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 162 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGSH mondo_mondo_0018937_medgen_c0026706_orphanet_581 Sanfilippo syndrome MONDO:MONDO:0018937,MedGen:C0026706,Orphanet:581 6 6 1.0000 condition_record_support_limited 20 0 6 Sanfilippo_syndrome 210 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGSH mondo_mondo_0019249_mesh_d009083_medgen_c0026703_omim_ps607014_orphanet_79213 Mucopolysaccharidosis MONDO:MONDO:0019249,MeSH:D009083,MedGen:C0026703,OMIM:PS607014,Orphanet:79213 6 6 1.0000 condition_record_support_limited 20 0 6 Mucopolysaccharidosis 210 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCD condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SFXN4 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene SFTPB mondo_mondo_0012580_medgen_c3711368_omim_ps265120_orphanet_264675 Hereditary pulmonary alveolar proteinosis MONDO:MONDO:0012580,MedGen:C3711368,OMIM:PS265120,Orphanet:264675 6 6 1.0000 condition_record_support_limited 20 0 2 Hereditary_pulmonary_alveolar_proteinosis 19 low_record_burden_interpretation_limited low_record_burden_gene SETD5 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD2 setd2_related_disorder SETD2-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 2 SETD2-related_disorder 68 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD1A human_phenotype_ontology_hp_0100753_mondo_mondo_0005090_mesh_d012559_medgen_c0036341_omim_181500 Schizophrenia Human_Phenotype_Ontology:HP:0100753,MONDO:MONDO:0005090,MeSH:D012559,MedGen:C0036341,OMIM:181500 6 6 1.0000 condition_record_support_limited 20 0 2 Schizophrenia 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETBP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINI1 mondo_mondo_0011412_medgen_c1858680_omim_604218_orphanet_85110 Familial encephalopathy with neuroserpin inclusion bodies MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218,Orphanet:85110 6 6 1.0000 condition_record_support_limited 20 0 1 Familial_encephalopathy_with_neuroserpin_inclusion_bodies 6 low_record_burden_interpretation_limited low_record_burden_gene SERPINB7 mondo_mondo_0014272_medgen_c3810072_omim_615598_orphanet_140966 Palmoplantar keratoderma, Nagashima type MONDO:MONDO:0014272,MedGen:C3810072,OMIM:615598,Orphanet:140966 6 6 1.0000 condition_record_support_limited 20 0 4 Palmoplantar_keratoderma,_Nagashima_type 10 low_record_burden_interpretation_limited low_record_burden_gene SEC23B sec23b_related_disorder SEC23B-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 SEC23B-related_disorder 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCP2 mondo_mondo_0013391_medgen_c3150990_omim_613724_orphanet_163684 Sterol carrier protein 2 deficiency MONDO:MONDO:0013391,MedGen:C3150990,OMIM:613724,Orphanet:163684 6 6 1.0000 condition_record_support_limited 20 0 4 Sterol_carrier_protein_2_deficiency 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCO1 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene SCNN1G condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 1 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene SCN1A human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 6 6 1.0000 condition_record_support_limited 20 0 1 Epileptic_encephalopathy 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A mondo_mondo_0100079_medgen_cn293401 Developmental and epileptic encephalopathy, 6A MONDO:MONDO:0100079,MedGen:CN293401 6 6 1.0000 condition_record_support_limited 20 0 4 Developmental_and_epileptic_encephalopathy,_6A 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SASS6 mondo_mondo_0014623_medgen_c4225338_omim_616402_orphanet_2512 Microcephaly 14, primary, autosomal recessive MONDO:MONDO:0014623,MedGen:C4225338,OMIM:616402,Orphanet:2512 6 6 1.0000 condition_record_support_limited 20 0 0 Microcephaly_14,_primary,_autosomal_recessive 7 low_record_burden_interpretation_limited low_record_burden_gene SAMD9L mondo_mondo_0009646_medgen_c1854978_omim_252270 Monosomy 7 myelodysplasia and leukemia syndrome 1 MONDO:MONDO:0009646,MedGen:C1854978,OMIM:252270 6 6 1.0000 condition_record_support_limited 20 0 3 Monosomy_7_myelodysplasia_and_leukemia_syndrome_1 19 low_record_burden_interpretation_limited low_record_burden_gene SAG mondo_mondo_0009775_medgen_c4551824_omim_258100 Oguchi disease-1 MONDO:MONDO:0009775,MedGen:C4551824,OMIM:258100 6 6 1.0000 condition_record_support_limited 20 0 4 Oguchi_disease-1 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RUNX2 mondo_mondo_0007984_medgen_c3549874_omim_156510_orphanet_2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome MONDO:MONDO:0007984,MedGen:C3549874,OMIM:156510,Orphanet:2504 6 6 1.0000 condition_record_support_limited 20 0 6 Metaphyseal_dysplasia-maxillary_hypoplasia-brachydacty_syndrome 166 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RUNX1 human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 6 6 1.0000 condition_record_support_limited 20 0 6 Abnormal_bleeding 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RTN2 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 6 6 1.0000 condition_record_support_limited 20 0 3 Spastic_paraplegia 15 low_record_burden_interpretation_limited low_record_burden_gene RSPRY1 mondo_mondo_0014748_medgen_c5568882_omim_616723_orphanet_457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome MONDO:MONDO:0014748,MedGen:C5568882,OMIM:616723,Orphanet:457395 6 6 1.0000 condition_record_support_limited 20 0 1 Progressive_spondyloepimetaphyseal_dysplasia-short_stature-short_fourth_metatarsals-intellectual_disability_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene RRAS2 mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 Noonan syndrome MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 6 6 1.0000 condition_record_support_limited 20 0 5 Noonan_syndrome 11 low_record_burden_interpretation_limited low_record_burden_gene RPL15 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 1 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene RPGRIP1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 6 6 1.0000 condition_record_support_limited 20 0 5 Retinitis_pigmentosa 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RP1L1 human_phenotype_ontology_hp_0030636_mondo_mondo_0013316_medgen_c3150833_omim_613587_orphanet_247834 Occult macular dystrophy Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834 6 6 1.0000 condition_record_support_limited 20 0 4 Occult_macular_dystrophy 46 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RP1 rp1_related_disorder RP1-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 4 RP1-related_disorder 334 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RORB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNU2-2 rnu2_2_related_neurodevelopmental_disorder RNU2-2 related neurodevelopmental disorder . 6 6 1.0000 condition_record_support_limited 20 0 4 RNU2-2_related_neurodevelopmental_disorder 24 single_exon_hotspot_opportunity local_compact_architecture RNASEH2B mondo_mondo_0018866_medgen_c0393591_omim_ps225750_orphanet_51 Aicardi Goutieres syndrome MONDO:MONDO:0018866,MedGen:C0393591,OMIM:PS225750,Orphanet:51 6 6 1.0000 condition_record_support_limited 20 0 5 Aicardi_Goutieres_syndrome 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLIM condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 4 See_cases|not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene RLBP1 mondo_mondo_0018877_medgen_c1405854_orphanet_52427 Retinitis punctata albescens MONDO:MONDO:0018877,MedGen:C1405854,Orphanet:52427 6 6 1.0000 condition_record_support_limited 20 0 6 Retinitis_punctata_albescens 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLBP1 rlbp1_related_disorder RLBP1-related disorder MedGen:CN239413 6 6 1.0000 condition_record_support_limited 20 0 5 RLBP1-related_disorder 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIPK4 mondo_mondo_0009901_medgen_c1849718_omim_263650_orphanet_1234 Bartsocas-Papas syndrome 1 MONDO:MONDO:0009901,MedGen:C1849718,OMIM:263650,Orphanet:1234 6 6 1.0000 condition_record_support_limited 20 0 0 Bartsocas-Papas_syndrome_1 8 low_record_burden_interpretation_limited low_record_burden_gene RIMS2 mondo_mondo_0033543_medgen_c5436505_omim_618970 Cone-rod synaptic disorder syndrome, congenital nonprogressive MONDO:MONDO:0033543,MedGen:C5436505,OMIM:618970 6 6 1.0000 condition_record_support_limited 20 0 0 Cone-rod_synaptic_disorder_syndrome,_congenital_nonprogressive 7 low_record_burden_interpretation_limited low_record_burden_gene RHO human_phenotype_ontology_hp_0030642_mondo_mondo_0007639_medgen_c0311338_omim_136880_orphanet_227796_orphanet_52427 Pigmentary retinal dystrophy Human_Phenotype_Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880,Orphanet:227796,Orphanet:52427 6 6 1.0000 condition_record_support_limited 20 0 6 Pigmentary_retinal_dystrophy 198 compact_adjacent_exon_block_opportunity local_compact_architecture RFX7 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 3 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene REN mondo_mondo_0009970_medgen_c5681536_omim_267430_orphanet_97369 Renal tubular dysgenesis of genetic origin MONDO:MONDO:0009970,MedGen:C5681536,OMIM:267430,Orphanet:97369 6 6 1.0000 condition_record_support_limited 20 0 6 Renal_tubular_dysgenesis_of_genetic_origin 23 compact_adjacent_exon_block_opportunity local_compact_architecture REN human_phenotype_ontology_hp_0008660_mondo_mondo_0017609_medgen_c0266313_orphanet_3033 Renal tubular dysgenesis Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033 6 6 1.0000 condition_record_support_limited 20 0 2 Renal_tubular_dysgenesis 23 compact_adjacent_exon_block_opportunity local_compact_architecture RECQL mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 6 6 1.0000 condition_record_support_limited 20 0 0 Hereditary_cancer-predisposing_syndrome 9 low_record_burden_interpretation_limited low_record_burden_gene RCBTB1 mondo_mondo_0014955_medgen_c4310680_omim_617175 RCBTB1-related retinopathy MONDO:MONDO:0014955,MedGen:C4310680,OMIM:617175 6 6 1.0000 condition_record_support_limited 20 0 6 RCBTB1-related_retinopathy 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBPJ mondo_mondo_0013895_medgen_c3553748_omim_614814_orphanet_974 Adams-Oliver syndrome 3 MONDO:MONDO:0013895,MedGen:C3553748,OMIM:614814,Orphanet:974 6 6 1.0000 condition_record_support_limited 20 0 1 Adams-Oliver_syndrome_3 7 low_record_burden_interpretation_limited low_record_burden_gene RB1 rb1_related_disorder RB1-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 4 RB1-related_disorder 947 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAX2 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene RARS2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 242 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAPSN rapsn_related_disorder RAPSN-related disorder MedGen:CN239397 6 6 1.0000 condition_record_support_limited 20 0 6 RAPSN-related_disorder 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAP1B mondo_mondo_0958000_medgen_c5882734_omim_620654 Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies MONDO:MONDO:0958000,MedGen:C5882734,OMIM:620654 6 6 1.0000 condition_record_support_limited 20 0 1 Thrombocytopenia_11_with_multiple_congenital_anomalies_and_dysmorphic_facies 6 low_record_burden_interpretation_limited low_record_burden_gene RAI1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 161 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RAG1 medgen_c1867362 Severe combined immunodeficiency, B cell-negative MedGen:C1867362 6 6 1.0000 condition_record_support_limited 20 0 6 Severe_combined_immunodeficiency,_B_cell-negative 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAF1 mondo_mondo_0020297_medgen_c5681679_orphanet_98733 Noonan syndrome and Noonan-related syndrome MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 6 6 1.0000 condition_record_support_limited 20 0 6 Noonan_syndrome_and_Noonan-related_syndrome 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAF1 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 Noonan syndrome 1 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 6 6 1.0000 condition_record_support_limited 20 0 6 Noonan_syndrome_1 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD51D inherited_breast_cancer_and_ovarian_cancer Inherited breast cancer and ovarian cancer . 6 6 1.0000 condition_record_support_limited 20 0 6 Inherited_breast_cancer_and_ovarian_cancer 245 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51 mondo_mondo_0014986_medgen_c4284093_omim_617244 Fanconi anemia complementation group R MONDO:MONDO:0014986,MedGen:C4284093,OMIM:617244 6 6 1.0000 condition_record_support_limited 20 0 2 Fanconi_anemia_complementation_group_R 13 low_record_burden_interpretation_limited low_record_burden_gene RAD50 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 6 6 1.0000 condition_record_support_limited 20 0 5 Hereditary_breast_ovarian_cancer_syndrome 483 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP2 mondo_mondo_8000008_medgen_c5542298_omim_212720_orphanet_1387 Martsolf syndrome 1 MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720,Orphanet:1387 6 6 1.0000 condition_record_support_limited 20 0 2 Martsolf_syndrome_1 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB28 mondo_mondo_0014153_medgen_c3809299_omim_615374_orphanet_1872 Cone-rod dystrophy 18 MONDO:MONDO:0014153,MedGen:C3809299,OMIM:615374,Orphanet:1872 6 6 1.0000 condition_record_support_limited 20 0 3 Cone-rod_dystrophy_18 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYGM human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 6 6 1.0000 condition_record_support_limited 20 0 6 Tip-toe_gait 294 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUS7 condition_not_provided condition not provided .|MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 3 See_cases|not_provided 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PURA mondo_mondo_0014512_medgen_cn924912_orphanet_438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation MONDO:MONDO:0014512,MedGen:CN924912,Orphanet:438216 6 6 1.0000 condition_record_support_limited 20 0 3 PURA-related_severe_neonatal_hypotonia-seizures-encephalopathy_syndrome_due_to_a_point_mutation 218 single_exon_hotspot_opportunity local_compact_architecture PURA pura_related_disorder PURA-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 3 PURA-related_disorder 218 single_exon_hotspot_opportunity local_compact_architecture PTRH2 mondo_mondo_8000012_medgen_c4015728_omim_616263_orphanet_456312 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:MONDO:8000012,MedGen:C4015728,OMIM:616263,Orphanet:456312 6 6 1.0000 condition_record_support_limited 20 0 4 Neurologic,_endocrine,_and_pancreatic_disease,_multisystem,_infantile-onset_1 9 low_record_burden_interpretation_limited low_record_burden_gene PTPN11 monogenic_short_statue Monogenic short statue . 6 6 1.0000 condition_record_support_limited 20 0 6 Monogenic_short_statue 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTDSS1 mondo_mondo_0007892_medgen_c0432269_omim_151050_orphanet_2658 Lenz-Majewski hyperostosis syndrome MONDO:MONDO:0007892,MedGen:C0432269,OMIM:151050,Orphanet:2658 6 6 1.0000 condition_record_support_limited 20 0 1 Lenz-Majewski_hyperostosis_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene PSORS1C1 mondo_mondo_0024548_medgen_c5679693_omim_270300_orphanet_263543_orphanet_263553 Peeling skin syndrome 1 MONDO:MONDO:0024548,MedGen:C5679693,OMIM:270300,Orphanet:263543,Orphanet:263553 6 6 1.0000 condition_record_support_limited 20 0 1 Peeling_skin_syndrome_1 9 low_record_burden_interpretation_limited low_record_burden_gene PSMC3 ebstein_bezieau_neurodevelopmental_syndrome EBSTEIN-BEZIEAU NEURODEVELOPMENTAL SYNDROME MedGen:CN381040,OMIM:621539 6 6 1.0000 condition_record_support_limited 20 0 1 EBSTEIN-BEZIEAU_NEURODEVELOPMENTAL_SYNDROME 11 low_record_burden_interpretation_limited low_record_burden_gene PSEN2 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 6 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene PSEN1 human_phenotype_ontology_hp_0002511_human_phenotype_ontology_hp_0006878_human_phenotype_ontology_hp_0007213_mondo_mondo_0004975_mesh_d000544_medgen_c0002395_orphanet_1020 Alzheimer disease Human_Phenotype_Ontology:HP:0002511,Human_Phenotype_Ontology:HP:0006878,Human_Phenotype_Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020 6 6 1.0000 condition_record_support_limited 20 0 1 Alzheimer_disease 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSAT1 psat1_related_disorder PSAT1-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 5 PSAT1-related_disorder 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSAT1 mondo_mondo_0012596_medgen_c1970253_omim_610992_orphanet_284417 PSAT deficiency MONDO:MONDO:0012596,MedGen:C1970253,OMIM:610992,Orphanet:284417 6 6 1.0000 condition_record_support_limited 20 0 5 PSAT_deficiency 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRX mondo_mondo_0007790_medgen_c0011195_omim_145900_orphanet_64748 Dejerine-Sottas disease MONDO:MONDO:0007790,MedGen:C0011195,OMIM:145900,Orphanet:64748 6 6 1.0000 condition_record_support_limited 20 0 4 Dejerine-Sottas_disease 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRRT2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 6 6 1.0000 condition_record_support_limited 20 0 3 Seizure 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRR12 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 74 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PRPH2 mondo_mondo_0011979_medgen_c1842914_orphanet_99000 Adult-onset foveomacular vitelliform dystrophy MONDO:MONDO:0011979,MedGen:C1842914,Orphanet:99000 6 6 1.0000 condition_record_support_limited 20 0 4 Adult-onset_foveomacular_vitelliform_dystrophy 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRORP mondo_mondo_0030543_medgen_c5676912_omim_619737 Combined oxidative phosphorylation deficiency 54 MONDO:MONDO:0030543,MedGen:C5676912,OMIM:619737 6 6 1.0000 condition_record_support_limited 20 0 3 Combined_oxidative_phosphorylation_deficiency_54 6 low_record_burden_interpretation_limited low_record_burden_gene PROM1 mondo_mondo_0019353_medgen_c0271093_omim_ps248200_orphanet_827 Stargardt disease MONDO:MONDO:0019353,MedGen:C0271093,OMIM:PS248200,Orphanet:827 6 6 1.0000 condition_record_support_limited 20 0 6 Stargardt_disease 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROKR2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 3 not_provided|not_specified 13 low_record_burden_interpretation_limited low_record_burden_gene PROK2 mondo_mondo_0012528_medgen_c3552343_omim_610628_orphanet_478 Hypogonadotropic hypogonadism 4 with or without anosmia MONDO:MONDO:0012528,MedGen:C3552343,OMIM:610628,Orphanet:478 6 6 1.0000 condition_record_support_limited 20 0 1 Hypogonadotropic_hypogonadism_4_with_or_without_anosmia 10 low_record_burden_interpretation_limited low_record_burden_gene PROC proc_related_disorder PROC-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 5 PROC-related_disorder 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRNP mondo_mondo_0007403_medgen_c0751254_omim_123400_orphanet_204_orphanet_282166_orphanet_454700 Inherited Creutzfeldt-Jakob disease MONDO:MONDO:0007403,MedGen:C0751254,OMIM:123400,Orphanet:204,Orphanet:282166,Orphanet:454700 6 6 1.0000 condition_record_support_limited 20 0 5 Inherited_Creutzfeldt-Jakob_disease 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKG2 mondo_mondo_0030553_medgen_c5562028_omim_619636 Acromesomelic dysplasia 4 MONDO:MONDO:0030553,MedGen:C5562028,OMIM:619636 6 6 1.0000 condition_record_support_limited 20 0 0 Acromesomelic_dysplasia_4 9 low_record_burden_interpretation_limited low_record_burden_gene PRKACB mondo_mondo_0030877_medgen_c5436886_omim_619143 Cardioacrofacial dysplasia 2 MONDO:MONDO:0030877,MedGen:C5436886,OMIM:619143 6 6 1.0000 condition_record_support_limited 20 0 0 Cardioacrofacial_dysplasia_2 6 low_record_burden_interpretation_limited low_record_burden_gene PRCD mondo_mondo_0012523_medgen_c1864621_omim_610599_orphanet_791 Retinitis pigmentosa 36 MONDO:MONDO:0012523,MedGen:C1864621,OMIM:610599,Orphanet:791 6 6 1.0000 condition_record_support_limited 20 0 4 Retinitis_pigmentosa_36 13 low_record_burden_interpretation_limited low_record_burden_gene PRCD human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 6 6 1.0000 condition_record_support_limited 20 0 5 Retinitis_pigmentosa 13 low_record_burden_interpretation_limited low_record_burden_gene PPP2R3C mondo_mondo_0032738_medgen_c5193085_omim_618419 Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy MONDO:MONDO:0032738,MedGen:C5193085,OMIM:618419 6 6 1.0000 condition_record_support_limited 20 0 3 Gonadal_dysgenesis,_dysmorphic_facies,_retinal_dystrophy,_and_myopathy 7 low_record_burden_interpretation_limited low_record_burden_gene PPP1R12A condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 1 not_provided 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPIB mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 Osteogenesis imperfecta MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 6 6 1.0000 condition_record_support_limited 20 0 3 Osteogenesis_imperfecta 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POU1F1 mondo_mondo_0013099_medgen_c4273747_omim_ps613038_orphanet_95494 Combined pituitary hormone deficiencies, genetic form MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038,Orphanet:95494 6 6 1.0000 condition_record_support_limited 20 0 6 Combined_pituitary_hormone_deficiencies,_genetic_form 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POPDC3 mondo_mondo_0030014_medgen_c5394268_omim_618848 Muscular dystrophy, limb-girdle, autosomal recessive 26 MONDO:MONDO:0030014,MedGen:C5394268,OMIM:618848 6 6 1.0000 condition_record_support_limited 20 0 0 Muscular_dystrophy,_limb-girdle,_autosomal_recessive_26 6 low_record_burden_interpretation_limited low_record_burden_gene POP1 mondo_mondo_0054561_medgen_c4479357_omim_617396 Anauxetic dysplasia 2 MONDO:MONDO:0054561,MedGen:C4479357,OMIM:617396 6 6 1.0000 condition_record_support_limited 20 0 0 Anauxetic_dysplasia_2 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMC condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene POLR2F mondo_mondo_0008670_medgen_c1847800_omim_193500_orphanet_894 Waardenburg syndrome type 1 MONDO:MONDO:0008670,MedGen:C1847800,OMIM:193500,Orphanet:894 6 6 1.0000 condition_record_support_limited 20 0 2 Waardenburg_syndrome_type_1 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR1A mondo_mondo_0014651_medgen_c4225317_omim_616462_orphanet_1200 Acrofacial dysostosis Cincinnati type MONDO:MONDO:0014651,MedGen:C4225317,OMIM:616462,Orphanet:1200 6 6 1.0000 condition_record_support_limited 20 0 1 Acrofacial_dysostosis_Cincinnati_type 10 low_record_burden_interpretation_limited low_record_burden_gene POLGARF mondo_mondo_0024528_medgen_c1834846_omim_157640 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640 6 6 1.0000 condition_record_support_limited 20 0 6 Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1 61 compact_adjacent_exon_block_opportunity local_compact_architecture POLGARF mondo_mondo_0013350_medgen_c3150914_omim_613662_orphanet_298 Mitochondrial DNA depletion syndrome 4b MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298 6 6 1.0000 condition_record_support_limited 20 0 6 Mitochondrial_DNA_depletion_syndrome_4b 61 compact_adjacent_exon_block_opportunity local_compact_architecture POLA1 mondo_mondo_0015601_medgen_c4305072_omim_301030_orphanet_163976 X-linked intellectual disability, van Esch type MONDO:MONDO:0015601,MedGen:C4305072,OMIM:301030,Orphanet:163976 6 6 1.0000 condition_record_support_limited 20 0 0 X-linked_intellectual_disability,_van_Esch_type 11 low_record_burden_interpretation_limited low_record_burden_gene PODXL condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene PMS2 mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 6 6 1.0000 condition_record_support_limited 20 0 4 Malignant_tumor_of_breast 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMS2 breast_and_or_ovarian_cancer Breast and/or ovarian cancer MedGen:CN221562 6 6 1.0000 condition_record_support_limited 20 0 6 Breast_and/or_ovarian_cancer 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMP2 mondo_mondo_0033135_medgen_c4748940_omim_618279_orphanet_476394 Charcot-Marie-Tooth disease, demyelinating, type 1G MONDO:MONDO:0033135,MedGen:C4748940,OMIM:618279,Orphanet:476394 6 6 1.0000 condition_record_support_limited 20 0 3 Charcot-Marie-Tooth_disease,_demyelinating,_type_1G 6 low_record_burden_interpretation_limited low_record_burden_gene PLVAP condition_not_provided condition not provided .|MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 2 See_cases|not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene PLCG2 mondo_mondo_0013766_medgen_c3280914_omim_614468_orphanet_300359 Familial cold autoinflammatory syndrome 3 MONDO:MONDO:0013766,MedGen:C3280914,OMIM:614468,Orphanet:300359 6 6 1.0000 condition_record_support_limited 20 0 1 Familial_cold_autoinflammatory_syndrome_3 10 low_record_burden_interpretation_limited low_record_burden_gene PLAG1 mondo_mondo_0030118_medgen_c5394450_omim_618907 Silver-russell syndrome 4 MONDO:MONDO:0030118,MedGen:C5394450,OMIM:618907 6 6 1.0000 condition_record_support_limited 20 0 3 Silver-russell_syndrome_4 11 low_record_burden_interpretation_limited low_record_burden_gene PKLR mondo_mondo_0007067_medgen_c1863224_omim_102900 Pyruvate kinase hyperactivity MONDO:MONDO:0007067,MedGen:C1863224,OMIM:102900 6 6 1.0000 condition_record_support_limited 20 0 6 Pyruvate_kinase_hyperactivity 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD2 cystic_renal_disease Cystic renal disease . 6 6 1.0000 condition_record_support_limited 20 0 5 Cystic_renal_disease 428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PITX3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene PIK3CA human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Hepatocellular carcinoma Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 6 6 1.0000 condition_record_support_limited 20 0 6 Hepatocellular_carcinoma 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGW mondo_mondo_0014457_medgen_c4014958_omim_616025_orphanet_247262 Hyperphosphatasia with intellectual disability syndrome 5 MONDO:MONDO:0014457,MedGen:C4014958,OMIM:616025,Orphanet:247262 6 6 1.0000 condition_record_support_limited 20 0 1 Hyperphosphatasia_with_intellectual_disability_syndrome_5 6 low_record_burden_interpretation_limited low_record_burden_gene PIGG medgen_c5677026 Emm-null phenotype MedGen:C5677026 6 6 1.0000 condition_record_support_limited 20 0 3 Emm-null_phenotype 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIEZO2 mondo_mondo_0009564_medgen_c0796033_omim_248700_orphanet_2461 Marden-Walker syndrome MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700,Orphanet:2461 6 6 1.0000 condition_record_support_limited 20 0 4 Marden-Walker_syndrome 134 large_gene_or_donor_burden_stress_case donor_burden_stress PI4KA mondo_mondo_1040012_medgen_cn378147 PI4KA-related disorder MONDO:MONDO:1040012,MedGen:CN378147 6 6 1.0000 condition_record_support_limited 20 0 1 PI4KA-related_disorder 42 large_gene_or_donor_burden_stress_case donor_burden_stress PHKB phkb_related_disorder PHKB-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 5 PHKB-related_disorder 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHACTR1 mondo_mondo_0032663_medgen_c4749023_omim_618298 Developmental and epileptic encephalopathy, 70 MONDO:MONDO:0032663,MedGen:C4749023,OMIM:618298 6 6 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_70 6 low_record_burden_interpretation_limited low_record_burden_gene PEX7 mondo_mondo_0009958_medgen_c0034960_omim_266500_orphanet_773 Phytanic acid storage disease MONDO:MONDO:0009958,MedGen:C0034960,OMIM:266500,Orphanet:773 6 6 1.0000 condition_record_support_limited 20 0 6 Phytanic_acid_storage_disease 142 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX7 pex7_related_disorder PEX7-related disorder MedGen:CN239409 6 6 1.0000 condition_record_support_limited 20 0 6 PEX7-related_disorder 142 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX14 mondo_mondo_0800365_medgen_c1866257 Peroxisome biogenesis disorder, complementation group K MONDO:MONDO:0800365,MedGen:C1866257 6 6 1.0000 condition_record_support_limited 20 0 0 Peroxisome_biogenesis_disorder,_complementation_group_K 8 low_record_burden_interpretation_limited low_record_burden_gene PEX1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 1.0000 condition_record_support_limited 20 0 5 Retinal_dystrophy 469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PET100 mondo_mondo_0033646_medgen_c5436695_omim_619055 Mitochondrial complex IV deficiency, nuclear type 12 MONDO:MONDO:0033646,MedGen:C5436695,OMIM:619055 6 6 1.0000 condition_record_support_limited 20 0 5 Mitochondrial_complex_IV_deficiency,_nuclear_type_12 11 low_record_burden_interpretation_limited low_record_burden_gene PDGFRB mondo_mondo_0009227_medgen_c4551572_omim_228550_orphanet_2591 Myofibromatosis, infantile, 1 MONDO:MONDO:0009227,MedGen:C4551572,OMIM:228550,Orphanet:2591 6 6 1.0000 condition_record_support_limited 20 0 2 Myofibromatosis,_infantile,_1 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDGFRB mondo_mondo_0014004_medgen_c3554321_omim_615007_orphanet_1980 Basal ganglia calcification, idiopathic, 4 MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007,Orphanet:1980 6 6 1.0000 condition_record_support_limited 20 0 5 Basal_ganglia_calcification,_idiopathic,_4 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6B medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 6 6 1.0000 condition_record_support_limited 20 0 5 Autosomal_recessive_retinitis_pigmentosa 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE2A mondo_mondo_0030900_medgen_c5436894_omim_619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures MONDO:MONDO:0030900,MedGen:C5436894,OMIM:619150 6 6 1.0000 condition_record_support_limited 20 0 1 Intellectual_developmental_disorder_with_paroxysmal_dyskinesia_or_seizures 9 low_record_burden_interpretation_limited low_record_burden_gene PCYT1A condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 3 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene PCNT mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 350 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PCDH19 human_phenotype_ontology_hp_0008288_mondo_mondo_0011612_medgen_c0751748_omim_ps605899_orphanet_407 Glycine encephalopathy Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407 6 6 1.0000 condition_record_support_limited 20 0 6 Glycine_encephalopathy 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH15 pcdh15_related_disorder PCDH15-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 5 PCDH15-related_disorder 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PCCB pccb_related_disorder PCCB-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 PCCB-related_disorder 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PC condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 3 not_provided 180 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PBX1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PALB2 human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 6 6 1.0000 condition_record_support_limited 20 0 4 Breast_carcinoma 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control P4HTM mondo_mondo_0032780_medgen_c5193124_omim_618493 Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities MONDO:MONDO:0032780,MedGen:C5193124,OMIM:618493 6 6 1.0000 condition_record_support_limited 20 0 0 Hypotonia,_hypoventilation,_impaired_intellectual_development,_dysautonomia,_epilepsy,_and_eye_abnormalities 13 low_record_burden_interpretation_limited low_record_burden_gene P2RY12 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OXTR mondo_mondo_0019947_medgen_c1832560_omim_606072_orphanet_265 Rippling muscle disease 2 MONDO:MONDO:0019947,MedGen:C1832560,OMIM:606072,Orphanet:265 6 6 1.0000 condition_record_support_limited 20 0 5 Rippling_muscle_disease_2 16 low_record_burden_interpretation_limited low_record_burden_gene OXTR mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 6 6 1.0000 condition_record_support_limited 20 0 2 Long_QT_syndrome 16 low_record_burden_interpretation_limited low_record_burden_gene OTOGL otogl_related_disorder OTOGL-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 3 OTOGL-related_disorder 99 large_gene_or_donor_burden_stress_case donor_burden_stress OTOF auditory_neuropathy_autosomal_recessive_1 Auditory neuropathy, autosomal recessive, 1 MedGen:CN315828 6 6 1.0000 condition_record_support_limited 20 0 5 Auditory_neuropathy,_autosomal_recessive,_1 355 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture OPA1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 1.0000 condition_record_support_limited 20 0 5 Retinal_dystrophy 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OGT condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 1 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene ODAPH mondo_mondo_0013906_medgen_c3553830_omim_614832_orphanet_88661 Amelogenesis imperfecta hypomaturation type 2A4 MONDO:MONDO:0013906,MedGen:C3553830,OMIM:614832,Orphanet:88661 6 6 1.0000 condition_record_support_limited 20 0 3 Amelogenesis_imperfecta_hypomaturation_type_2A4 7 low_record_burden_interpretation_limited low_record_burden_gene ODAD2 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OCA2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 309 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OAT human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 1.0000 condition_record_support_limited 20 0 6 Retinal_dystrophy 150 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NYX human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Congenital stationary night blindness Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 6 6 1.0000 condition_record_support_limited 20 0 1 Congenital_stationary_night_blindness 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NUP93 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene NUP188 condition_not_provided condition not provided .|MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 2 See_cases|not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene NSF mondo_mondo_0023659_medgen_c5543446_omim_619340 Developmental and epileptic encephalopathy 96 MONDO:MONDO:0023659,MedGen:C5543446,OMIM:619340 6 6 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy_96 6 low_record_burden_interpretation_limited low_record_burden_gene NSD2 nsd2_related_disorder NSD2-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 2 NSD2-related_disorder 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAS mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 Noonan syndrome MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 6 6 1.0000 condition_record_support_limited 20 0 5 Noonan_syndrome 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAS mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 6 6 1.0000 condition_record_support_limited 20 0 6 Colorectal_cancer 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR6A1 mondo_mondo_0979866_medgen_cn379759_omim_621277 Oculovertebral syndrome MONDO:MONDO:0979866,MedGen:CN379759,OMIM:621277 6 6 1.0000 condition_record_support_limited 20 0 1 Oculovertebral_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene NR5A1 medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 6 6 1.0000 condition_record_support_limited 20 0 3 Genetic_non-acquired_premature_ovarian_failure 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR0B1 nr0b1_related_disorder NR0B1-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 2 NR0B1-related_disorder 124 compact_adjacent_exon_block_opportunity local_compact_architecture NPTX1 mondo_mondo_0859334_medgen_c5774272_omim_620158 Spinocerebellar ataxia 50 MONDO:MONDO:0859334,MedGen:C5774272,OMIM:620158 6 6 1.0000 condition_record_support_limited 20 0 1 Spinocerebellar_ataxia_50 6 low_record_burden_interpretation_limited low_record_burden_gene NPTN nptn_related_neurodevelopmental_disorder NPTN-related neurodevelopmental disorder . 6 6 1.0000 condition_record_support_limited 20 0 0 NPTN-related_neurodevelopmental_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene NPR2 npr2_related_disorder NPR2-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 5 NPR2-related_disorder 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NOG mondo_mondo_0008484_medgen_c1866656_omim_184460_orphanet_140917 Stapes ankylosis with broad thumbs and toes MONDO:MONDO:0008484,MedGen:C1866656,OMIM:184460,Orphanet:140917 6 6 1.0000 condition_record_support_limited 20 0 3 Stapes_ankylosis_with_broad_thumbs_and_toes 50 single_exon_hotspot_opportunity local_compact_architecture NOBOX mondo_mondo_0012689_medgen_c1969060_omim_611548 Premature ovarian failure 5 MONDO:MONDO:0012689,MedGen:C1969060,OMIM:611548 6 6 1.0000 condition_record_support_limited 20 0 1 Premature_ovarian_failure_5 15 low_record_burden_interpretation_limited low_record_burden_gene NNT condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 0 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NLRP3 mondo_mondo_0007849_medgen_c1835697_omim_148200_orphanet_647815 Keratitis fugax hereditaria MONDO:MONDO:0007849,MedGen:C1835697,OMIM:148200,Orphanet:647815 6 6 1.0000 condition_record_support_limited 20 0 5 Keratitis_fugax_hereditaria 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NLRP3 mondo_mondo_0019751_medgen_c3890737_orphanet_93665 Autoinflammatory syndrome MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 6 6 1.0000 condition_record_support_limited 20 0 5 Autoinflammatory_syndrome 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NLRP12 condition_not_provided condition not provided .|MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 3 See_cases|not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene NLRC4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 3 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene NLGN3 mondo_mondo_0010321_medgen_c1845540_omim_300425 Autism, susceptibility to, X-linked 1 MONDO:MONDO:0010321,MedGen:C1845540,OMIM:300425 6 6 1.0000 condition_record_support_limited 20 0 0 Autism,_susceptibility_to,_X-linked_1 12 low_record_burden_interpretation_limited low_record_burden_gene NKIRAS1 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 1 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene NIPAL4 mondo_mondo_0017778_medgen_c5848247_orphanet_313 Lamellar ichthyosis MONDO:MONDO:0017778,MedGen:C5848247,Orphanet:313 6 6 1.0000 condition_record_support_limited 20 0 4 Lamellar_ichthyosis 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NIN mondo_mondo_0013922_medgen_c3553870_omim_614851_orphanet_319675 Seckel syndrome 7 MONDO:MONDO:0013922,MedGen:C3553870,OMIM:614851,Orphanet:319675 6 6 1.0000 condition_record_support_limited 20 0 1 Seckel_syndrome_7 6 low_record_burden_interpretation_limited low_record_burden_gene NGLY1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFKB2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 6 6 1.0000 condition_record_support_limited 20 6 3 not_provided|not_specified 17 low_record_burden_interpretation_limited low_record_burden_gene NFIX mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NF2 mondo_mondo_0024517_medgen_c4048809_omim_162091_orphanet_93921 SMARCB1-related schwannomatosis MONDO:MONDO:0024517,MedGen:C4048809,OMIM:162091,Orphanet:93921 6 6 1.0000 condition_record_support_limited 20 0 1 SMARCB1-related_schwannomatosis 285 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NDUFV2 mondo_mondo_0032612_medgen_c4748760_omim_618229 Mitochondrial complex I deficiency, nuclear type 7 MONDO:MONDO:0032612,MedGen:C4748760,OMIM:618229 6 6 1.0000 condition_record_support_limited 20 0 3 Mitochondrial_complex_I_deficiency,_nuclear_type_7 17 low_record_burden_interpretation_limited low_record_burden_gene NDUFA10 mondo_mondo_0032626_medgen_c4748796_omim_618243 Mitochondrial complex I deficiency, nuclear type 22 MONDO:MONDO:0032626,MedGen:C4748796,OMIM:618243 6 6 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency,_nuclear_type_22 8 low_record_burden_interpretation_limited low_record_burden_gene NDE1 mondo_mondo_0013527_medgen_c3151461_omim_614019_orphanet_1083 Lissencephaly 4 MONDO:MONDO:0013527,MedGen:C3151461,OMIM:614019,Orphanet:1083 6 6 1.0000 condition_record_support_limited 20 0 4 Lissencephaly_4 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCF4 mondo_mondo_0018305_medgen_c0018203_omim_ps306400_orphanet_379 Chronic granulomatous disease MONDO:MONDO:0018305,MedGen:C0018203,OMIM:PS306400,Orphanet:379 6 6 1.0000 condition_record_support_limited 20 0 4 Chronic_granulomatous_disease 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCF1 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 5 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene NBN breast_and_or_ovarian_cancer Breast and/or ovarian cancer MedGen:CN221562 6 6 1.0000 condition_record_support_limited 20 0 6 Breast_and/or_ovarian_cancer 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NBEA mondo_mondo_0032774_medgen_c5193118_omim_618479 Cerebellar, ocular, craniofacial, and genital syndrome MONDO:MONDO:0032774,MedGen:C5193118,OMIM:618479 6 6 1.0000 condition_record_support_limited 20 0 0 Cerebellar,_ocular,_craniofacial,_and_genital_syndrome 81 large_gene_or_donor_burden_stress_case donor_burden_stress NAXE condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 1 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NARS1 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NARS1 mondo_mondo_0030837_medgen_c5436788_omim_619092 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities MONDO:MONDO:0030837,MedGen:C5436788,OMIM:619092 6 6 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_microcephaly,_impaired_language,_epilepsy,_and_gait_abnormalities 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAGLU naglu_related_disorder NAGLU-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 4 NAGLU-related_disorder 295 compact_adjacent_exon_block_opportunity local_compact_architecture NAA60 mondo_mondo_0968977_medgen_c5935607_omim_620786 Basal ganglia calcification, idiopathic, 9, autosomal recessive MONDO:MONDO:0968977,MedGen:C5935607,OMIM:620786 6 6 1.0000 condition_record_support_limited 20 0 0 Basal_ganglia_calcification,_idiopathic,_9,_autosomal_recessive 6 low_record_burden_interpretation_limited low_record_burden_gene NAA15 naa15_related_disorder NAA15-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 2 NAA15-related_disorder 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAA10 mondo_mondo_0010671_medgen_c0796016_omim_309800_orphanet_568_orphanet_85275 Microphthalmia, syndromic 1 MONDO:MONDO:0010671,MedGen:C0796016,OMIM:309800,Orphanet:568,Orphanet:85275 6 6 1.0000 condition_record_support_limited 20 0 4 Microphthalmia,_syndromic_1 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO7A human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 6 6 1.0000 condition_record_support_limited 20 0 3 Retinitis_pigmentosa 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO6 myo6_related_disorder MYO6-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 3 MYO6-related_disorder 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO5A mondo_mondo_0008962_medgen_c1859194_omim_214450_orphanet_381_orphanet_79476 Griscelli syndrome type 1 MONDO:MONDO:0008962,MedGen:C1859194,OMIM:214450,Orphanet:381,Orphanet:79476 6 6 1.0000 condition_record_support_limited 20 0 0 Griscelli_syndrome_type_1 10 low_record_burden_interpretation_limited low_record_burden_gene MYO19 mondo_mondo_0014457_medgen_c4014958_omim_616025_orphanet_247262 Hyperphosphatasia with intellectual disability syndrome 5 MONDO:MONDO:0014457,MedGen:C4014958,OMIM:616025,Orphanet:247262 6 6 1.0000 condition_record_support_limited 20 0 1 Hyperphosphatasia_with_intellectual_disability_syndrome_5 6 low_record_burden_interpretation_limited low_record_burden_gene MYMK mondo_mondo_0031415_medgen_c1850746_omim_ps254940_orphanet_1358 Congenital nonprogressive myopathy with Moebius and Robin sequences MONDO:MONDO:0031415,MedGen:C1850746,OMIM:PS254940,Orphanet:1358 6 6 1.0000 condition_record_support_limited 20 0 2 Congenital_nonprogressive_myopathy_with_Moebius_and_Robin_sequences 8 low_record_burden_interpretation_limited low_record_burden_gene MYLK mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 6 6 1.0000 condition_record_support_limited 20 0 3 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 73 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYL2 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 6 6 1.0000 condition_record_support_limited 20 0 4 Cardiomyopathy 17 low_record_burden_interpretation_limited low_record_burden_gene MYEF2 mondo_mondo_0018264_medgen_c3805375_omim_113750_orphanet_370097 Oculocutaneous albinism type 6 MONDO:MONDO:0018264,MedGen:C3805375,OMIM:113750,Orphanet:370097 6 6 1.0000 condition_record_support_limited 20 0 2 Oculocutaneous_albinism_type_6 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYCN mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MVK mondo_mondo_0017708_medgen_c0342731_orphanet_309025 Deficiency of mevalonate kinase MONDO:MONDO:0017708,MedGen:C0342731,Orphanet:309025 6 6 1.0000 condition_record_support_limited 20 0 5 Deficiency_of_mevalonate_kinase 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MUTYH human_phenotype_ontology_hp_0030434_mondo_mondo_0007564_mesh_d018296_medgen_c0206711_omim_132600_orphanet_91414 Pilomatrixoma Human_Phenotype_Ontology:HP:0030434,MONDO:MONDO:0007564,MeSH:D018296,MedGen:C0206711,OMIM:132600,Orphanet:91414 6 6 1.0000 condition_record_support_limited 20 0 6 Pilomatrixoma 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 6 6 1.0000 condition_record_support_limited 20 0 6 Breast_carcinoma 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MTTP mttp_related_disorder MTTP-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 4 MTTP-related_disorder 179 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTHFD1 human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 6 6 1.0000 condition_record_support_limited 20 0 2 Severe_combined_immunodeficiency_disease 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSL3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSL2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 6 6 1.0000 condition_record_support_limited 20 6 1 not_provided|not_specified 12 low_record_burden_interpretation_limited low_record_burden_gene MSL2 mondo_mondo_0975836_medgen_c5975476_omim_620985 Karayol-Borroto-Haghshenas neurodevelopmental syndrome MONDO:MONDO:0975836,MedGen:C5975476,OMIM:620985 6 6 1.0000 condition_record_support_limited 20 0 1 Karayol-Borroto-Haghshenas_neurodevelopmental_syndrome 12 low_record_burden_interpretation_limited low_record_burden_gene MSH6 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 6 6 1.0000 condition_record_support_limited 20 0 3 Neurodevelopmental_disorder 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH4 medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 6 6 1.0000 condition_record_support_limited 20 0 1 Genetic_non-acquired_premature_ovarian_failure 15 low_record_burden_interpretation_limited low_record_burden_gene MSH3 msh3_related_disorder MSH3-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 MSH3-related_disorder 593 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MRPS34 mondo_mondo_0054654_medgen_c4540029_omim_617664 Combined oxidative phosphorylation deficiency 32 MONDO:MONDO:0054654,MedGen:C4540029,OMIM:617664 6 6 1.0000 condition_record_support_limited 20 0 3 Combined_oxidative_phosphorylation_deficiency_32 10 low_record_burden_interpretation_limited low_record_burden_gene MRE11 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 6 6 1.0000 condition_record_support_limited 20 0 6 Hereditary_breast_ovarian_cancer_syndrome 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPV17 mpv17_related_disorder MPV17-related disorder MedGen:CN239328 6 6 1.0000 condition_record_support_limited 20 0 6 MPV17-related_disorder 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPC1 mondo_mondo_0013877_medgen_c3553607_omim_614741_orphanet_447784 Mitochondrial pyruvate carrier deficiency MONDO:MONDO:0013877,MedGen:C3553607,OMIM:614741,Orphanet:447784 6 6 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_pyruvate_carrier_deficiency 6 low_record_burden_interpretation_limited low_record_burden_gene MOCS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 5 not_provided 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MN1 mn1_c_terminal_truncation_mctt_syndrome MN1 C-terminal truncation (MCTT) syndrome . 6 6 1.0000 condition_record_support_limited 20 0 3 MN1_C-terminal_truncation_(MCTT)_syndrome 29 compact_adjacent_exon_block_opportunity local_compact_architecture MMP13 mondo_mondo_0011198_medgen_c1865832_omim_602111_orphanet_1040_orphanet_93356 Spondyloepimetaphyseal dysplasia, Missouri type MONDO:MONDO:0011198,MedGen:C1865832,OMIM:602111,Orphanet:1040,Orphanet:93356 6 6 1.0000 condition_record_support_limited 20 0 4 Spondyloepimetaphyseal_dysplasia,_Missouri_type 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMADHC mondo_mondo_0010184_medgen_c1848561_omim_277400_orphanet_26_orphanet_79282 Cobalamin C disease MONDO:MONDO:0010184,MedGen:C1848561,OMIM:277400,Orphanet:26,Orphanet:79282 6 6 1.0000 condition_record_support_limited 20 0 4 Cobalamin_C_disease 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MLPH mondo_mondo_0012220_medgen_c1836573_omim_609227_orphanet_381_orphanet_79478 Griscelli syndrome type 3 MONDO:MONDO:0012220,MedGen:C1836573,OMIM:609227,Orphanet:381,Orphanet:79478 6 6 1.0000 condition_record_support_limited 20 0 2 Griscelli_syndrome_type_3 9 low_record_burden_interpretation_limited low_record_burden_gene MLH1 breast_and_or_ovarian_cancer Breast and/or ovarian cancer MedGen:CN221562 6 6 1.0000 condition_record_support_limited 20 0 4 Breast_and/or_ovarian_cancer 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MKRN3 mondo_mondo_0014137_medgen_c3809199_omim_615346_orphanet_759 Precocious puberty, central, 2 MONDO:MONDO:0014137,MedGen:C3809199,OMIM:615346,Orphanet:759 6 6 1.0000 condition_record_support_limited 20 0 0 Precocious_puberty,_central,_2 11 low_record_burden_interpretation_limited low_record_burden_gene MITD1 mondo_mondo_0014576_medgen_c4225379_omim_616299_orphanet_401862 Lipoyl transferase 1 deficiency MONDO:MONDO:0014576,MedGen:C4225379,OMIM:616299,Orphanet:401862 6 6 1.0000 condition_record_support_limited 20 0 3 Lipoyl_transferase_1_deficiency 7 low_record_burden_interpretation_limited low_record_burden_gene MIP condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFSD2A mondo_mondo_0014660_medgen_c4225310_omim_616486_orphanet_2512 Microcephaly 15, primary, autosomal recessive MONDO:MONDO:0014660,MedGen:C4225310,OMIM:616486,Orphanet:2512 6 6 1.0000 condition_record_support_limited 20 0 0 Microcephaly_15,_primary,_autosomal_recessive 8 low_record_burden_interpretation_limited low_record_burden_gene MFN2 mfn2_related_disorder MFN2-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 5 MFN2-related_disorder 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MET human_phenotype_ontology_hp_0011797_medgen_c1336839_omim_605074_orphanet_47044 Papillary renal cell carcinoma type 1 Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044 6 6 1.0000 condition_record_support_limited 20 0 4 Papillary_renal_cell_carcinoma_type_1 13 low_record_burden_interpretation_limited low_record_burden_gene MEOX1 mondo_mondo_0008958_medgen_c1859209_omim_214300_orphanet_2345 Klippel-Feil syndrome 2, autosomal recessive MONDO:MONDO:0008958,MedGen:C1859209,OMIM:214300,Orphanet:2345 6 6 1.0000 condition_record_support_limited 20 0 1 Klippel-Feil_syndrome_2,_autosomal_recessive 7 low_record_burden_interpretation_limited low_record_burden_gene MEIOB mondo_mondo_0054726_medgen_c4540179_omim_617706 Spermatogenic failure 22 MONDO:MONDO:0054726,MedGen:C4540179,OMIM:617706 6 6 1.0000 condition_record_support_limited 20 0 3 Spermatogenic_failure_22 10 low_record_burden_interpretation_limited low_record_burden_gene MEI1 mondo_mondo_0032746_medgen_c5193093_omim_618431 Hydatidiform mole, recurrent, 3 MONDO:MONDO:0032746,MedGen:C5193093,OMIM:618431 6 6 1.0000 condition_record_support_limited 20 0 3 Hydatidiform_mole,_recurrent,_3 9 low_record_burden_interpretation_limited low_record_burden_gene MEFV mefv_related_disorder MEFV-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 MEFV-related_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED12 mondo_mondo_0010655_medgen_c0796022_omim_309520_orphanet_776 X-linked intellectual disability with marfanoid habitus MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520,Orphanet:776 6 6 1.0000 condition_record_support_limited 20 0 5 X-linked_intellectual_disability_with_marfanoid_habitus 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MCM8 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene MBD5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 119 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MASP1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 0 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAPT mondo_mondo_0010997_medgen_c4551863_omim_601104_orphanet_240071 Supranuclear palsy, progressive, 1 MONDO:MONDO:0010997,MedGen:C4551863,OMIM:601104,Orphanet:240071 6 6 1.0000 condition_record_support_limited 20 0 5 Supranuclear_palsy,_progressive,_1 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAPKAPK5 mondo_mondo_0859247_medgen_c5677020_omim_619869 Neurocardiofaciodigital syndrome MONDO:MONDO:0859247,MedGen:C5677020,OMIM:619869 6 6 1.0000 condition_record_support_limited 20 0 0 Neurocardiofaciodigital_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene MAPK8IP3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene MAPK1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 1.0000 condition_record_support_limited 20 0 6 Intellectual_disability 13 low_record_burden_interpretation_limited low_record_burden_gene MAP2K1 mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 Noonan syndrome MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 6 6 1.0000 condition_record_support_limited 20 0 5 Noonan_syndrome 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP2K1 human_phenotype_ontology_hp_6000817_mondo_mondo_0007970_medgen_c3149631_omim_155950_orphanet_2485 Melorheostosis Human_Phenotype_Ontology:HP:6000817,MONDO:MONDO:0007970,MedGen:C3149631,OMIM:155950,Orphanet:2485 6 6 1.0000 condition_record_support_limited 20 0 5 Melorheostosis 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP1B human_phenotype_ontology_hp_0032388_mondo_mondo_0020341_mesh_d054091_medgen_c1868720_omim_ps300049_orphanet_98892 Periventricular nodular heterotopia Human_Phenotype_Ontology:HP:0032388,MONDO:MONDO:0020341,MeSH:D054091,MedGen:C1868720,OMIM:PS300049,Orphanet:98892 6 6 1.0000 condition_record_support_limited 20 0 5 Periventricular_nodular_heterotopia 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MADD madd_related_disorder MADD-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 3 MADD-related_disorder 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAB21L1 mondo_mondo_0032774_medgen_c5193118_omim_618479 Cerebellar, ocular, craniofacial, and genital syndrome MONDO:MONDO:0032774,MedGen:C5193118,OMIM:618479 6 6 1.0000 condition_record_support_limited 20 0 0 Cerebellar,_ocular,_craniofacial,_and_genital_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene LZTR1 mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 Noonan syndrome MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 6 6 1.0000 condition_record_support_limited 20 0 6 Noonan_syndrome 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LTBP3 mondo_mondo_0054722_medgen_c4540511_omim_617809 Geleophysic dysplasia 3 MONDO:MONDO:0054722,MedGen:C4540511,OMIM:617809 6 6 1.0000 condition_record_support_limited 20 0 2 Geleophysic_dysplasia_3 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LTBP2 mondo_mondo_0009633_medgen_c3538951_omim_251750_orphanet_238763 Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750,Orphanet:238763 6 6 1.0000 condition_record_support_limited 20 0 5 Microspherophakia_and/or_megalocornea,_with_ectopia_lentis_and_with_or_without_secondary_glaucoma 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LTBP1 mondo_mondo_0030337_medgen_c5561944_omim_619451 Cutis laxa, autosomal recessive, type 2E MONDO:MONDO:0030337,MedGen:C5561944,OMIM:619451 6 6 1.0000 condition_record_support_limited 20 0 0 Cutis_laxa,_autosomal_recessive,_type_2E 7 low_record_burden_interpretation_limited low_record_burden_gene LSS mondo_mondo_0032649_medgen_c4748930_omim_618275 Hypotrichosis 14 MONDO:MONDO:0032649,MedGen:C4748930,OMIM:618275 6 6 1.0000 condition_record_support_limited 20 0 5 Hypotrichosis_14 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRRK1 mondo_mondo_0014080_medgen_c3554665_omim_615198_orphanet_500548 Osteosclerotic metaphyseal dysplasia MONDO:MONDO:0014080,MedGen:C3554665,OMIM:615198,Orphanet:500548 6 6 1.0000 condition_record_support_limited 20 0 0 Osteosclerotic_metaphyseal_dysplasia 24 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LRRC37A2 mondo_mondo_0023659_medgen_c5543446_omim_619340 Developmental and epileptic encephalopathy 96 MONDO:MONDO:0023659,MedGen:C5543446,OMIM:619340 6 6 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy_96 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP6 human_phenotype_ontology_hp_0009804_medgen_c4024202 Tooth agenesis Human_Phenotype_Ontology:HP:0009804,MedGen:C4024202 6 6 1.0000 condition_record_support_limited 20 0 2 Tooth_agenesis 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP5 mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 Osteogenesis imperfecta MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 6 6 1.0000 condition_record_support_limited 20 0 4 Osteogenesis_imperfecta 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP1B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 6 low_record_burden_interpretation_limited low_record_burden_gene LRIG2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 0 not_provided|not_specified 11 low_record_burden_interpretation_limited low_record_burden_gene LOXHD1 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 6 6 1.0000 condition_record_support_limited 20 0 4 Hearing_impairment 443 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LONP1 mondo_mondo_0010879_medgen_c1838180_omim_600373_orphanet_1458 CODAS syndrome MONDO:MONDO:0010879,MedGen:C1838180,OMIM:600373,Orphanet:1458 6 6 1.0000 condition_record_support_limited 20 0 0 CODAS_syndrome 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMBRD2 mondo_mondo_0859218_medgen_c5562060_omim_619694 Developmental delay with variable neurologic and brain abnormalities MONDO:MONDO:0859218,MedGen:C5562060,OMIM:619694 6 6 1.0000 condition_record_support_limited 20 0 3 Developmental_delay_with_variable_neurologic_and_brain_abnormalities 10 low_record_burden_interpretation_limited low_record_burden_gene LIPT1 mondo_mondo_0014576_medgen_c4225379_omim_616299_orphanet_401862 Lipoyl transferase 1 deficiency MONDO:MONDO:0014576,MedGen:C4225379,OMIM:616299,Orphanet:401862 6 6 1.0000 condition_record_support_limited 20 0 3 Lipoyl_transferase_1_deficiency 7 low_record_burden_interpretation_limited low_record_burden_gene LIPH condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 5 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene LIPH medgen_c3148823 Woolly hair, autosomal recessive 2, with or without hypotrichosis MedGen:C3148823 6 6 1.0000 condition_record_support_limited 20 0 5 Woolly_hair,_autosomal_recessive_2,_with_or_without_hypotrichosis 12 low_record_burden_interpretation_limited low_record_burden_gene LIG4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LHB mondo_mondo_0009223_medgen_c0271582_omim_228300_orphanet_325448 Isolated lutropin deficiency MONDO:MONDO:0009223,MedGen:C0271582,OMIM:228300,Orphanet:325448 6 6 1.0000 condition_record_support_limited 20 0 0 Isolated_lutropin_deficiency 6 low_record_burden_interpretation_limited low_record_burden_gene LGI3 mondo_mondo_0859277_medgen_c5774199_omim_620007 Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects MONDO:MONDO:0859277,MedGen:C5774199,OMIM:620007 6 6 1.0000 condition_record_support_limited 20 0 5 Intellectual_developmental_disorder_with_muscle_tone_abnormalities_and_distal_skeletal_defects 11 low_record_burden_interpretation_limited low_record_burden_gene LAT condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene LARS1 mondo_mondo_0013111_medgen_c3278664_omim_613070_orphanet_217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070,Orphanet:217371 6 6 1.0000 condition_record_support_limited 20 0 1 Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMA3 lama3_related_disorder LAMA3-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 4 LAMA3-related_disorder 266 large_gene_or_donor_burden_stress_case donor_burden_stress LAMA2 medgen_c1842898 Congenital muscular dystrophy due to partial LAMA2 deficiency MedGen:C1842898 6 6 1.0000 condition_record_support_limited 20 0 6 Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency 953 large_gene_or_donor_burden_stress_case donor_burden_stress KRT86 human_phenotype_ontology_hp_0032470_mondo_mondo_0008009_medgen_c0546966_omim_ps158000_orphanet_573 Monilethrix Human_Phenotype_Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:PS158000,Orphanet:573 6 6 1.0000 condition_record_support_limited 20 0 6 Monilethrix 8 low_record_burden_interpretation_limited low_record_burden_gene KRT14 mondo_mondo_0007445_medgen_c0406778_omim_125595_orphanet_86920 Dermatopathia pigmentosa reticularis MONDO:MONDO:0007445,MedGen:C0406778,OMIM:125595,Orphanet:86920 6 6 1.0000 condition_record_support_limited 20 0 4 Dermatopathia_pigmentosa_reticularis 76 compact_adjacent_exon_block_opportunity local_compact_architecture KRAS mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 6 6 1.0000 condition_record_support_limited 20 0 6 Malignant_tumor_of_urinary_bladder 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Cerebral arteriovenous malformation Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 6 6 1.0000 condition_record_support_limited 20 0 6 Cerebral_arteriovenous_malformation 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KPTN condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KPNA3 mondo_mondo_0859309_medgen_c5774247_omim_620106 Spastic paraplegia 88, autosomal dominant MONDO:MONDO:0859309,MedGen:C5774247,OMIM:620106 6 6 1.0000 condition_record_support_limited 20 0 1 Spastic_paraplegia_88,_autosomal_dominant 7 low_record_burden_interpretation_limited low_record_burden_gene KMT2D medgen_c0079037_omim_113600 Branchial cleft anomaly MedGen:C0079037,OMIM:113600 6 6 1.0000 condition_record_support_limited 20 0 5 Branchial_cleft_anomaly 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KLHL3 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 5 not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KLF1 mondo_mondo_0013355_medgen_c3150926_omim_613673_orphanet_293825 Congenital dyserythropoietic anemia type 4 MONDO:MONDO:0013355,MedGen:C3150926,OMIM:613673,Orphanet:293825 6 6 1.0000 condition_record_support_limited 20 0 5 Congenital_dyserythropoietic_anemia_type_4 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KLF1 mondo_mondo_0975829_medgen_c5975438_omim_620969 Anemia, congenital dyserythropoietic, type IVb MONDO:MONDO:0975829,MedGen:C5975438,OMIM:620969 6 6 1.0000 condition_record_support_limited 20 0 4 Anemia,_congenital_dyserythropoietic,_type_IVb 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF5A mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 6 6 1.0000 condition_record_support_limited 20 0 5 Hereditary_spastic_paraplegia 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF4A mondo_mondo_0010488_medgen_c3890167_omim_300923 Intellectual disability, X-linked 100 MONDO:MONDO:0010488,MedGen:C3890167,OMIM:300923 6 6 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_X-linked_100 8 low_record_burden_interpretation_limited low_record_burden_gene KIF2A mondo_mondo_0014170_medgen_c3809414_omim_615411 Complex cortical dysplasia with other brain malformations 3 MONDO:MONDO:0014170,MedGen:C3809414,OMIM:615411 6 6 1.0000 condition_record_support_limited 20 0 2 Complex_cortical_dysplasia_with_other_brain_malformations_3 7 low_record_burden_interpretation_limited low_record_burden_gene KIF1A mondo_mondo_0024309_medgen_c2752089_omim_201300_orphanet_970 Neuropathy, hereditary sensory and autonomic, type 2A MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970 6 6 1.0000 condition_record_support_limited 20 0 5 Neuropathy,_hereditary_sensory_and_autonomic,_type_2A 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIF1A mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 6 6 1.0000 condition_record_support_limited 20 0 6 Hereditary_spastic_paraplegia 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIF14 mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 6 6 1.0000 condition_record_support_limited 20 0 2 Joubert_syndrome_and_related_disorders 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIAA0753 mondo_mondo_0014932_medgen_c4310701_omim_617127 Orofaciodigital syndrome XV MONDO:MONDO:0014932,MedGen:C4310701,OMIM:617127 6 6 1.0000 condition_record_support_limited 20 0 6 Orofaciodigital_syndrome_XV 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIAA0753 mondo_mondo_0030353_medgen_c5561958_omim_619476 Joubert syndrome 38 MONDO:MONDO:0030353,MedGen:C5561958,OMIM:619476 6 6 1.0000 condition_record_support_limited 20 0 3 Joubert_syndrome_38 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDSR mondo_mondo_0033014_medgen_c4479620_omim_617526 Erythrokeratodermia variabilis et progressiva 4 MONDO:MONDO:0033014,MedGen:C4479620,OMIM:617526 6 6 1.0000 condition_record_support_limited 20 0 1 Erythrokeratodermia_variabilis_et_progressiva_4 7 low_record_burden_interpretation_limited low_record_burden_gene KDM6A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM5B mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 6 6 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM5B kdm5b_related_disorder KDM5B-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 2 KDM5B-related_disorder 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM5A mondo_mondo_0970951_medgen_c5935620_omim_620820 El Hayek-Chahrour neurodevelopmental disorder MONDO:MONDO:0970951,MedGen:C5935620,OMIM:620820 6 6 1.0000 condition_record_support_limited 20 0 1 El_Hayek-Chahrour_neurodevelopmental_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene KDM2B mondo_mondo_0980965_medgen_cn380856_omim_621474 Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities MONDO:MONDO:0980965,MedGen:CN380856,OMIM:621474 6 6 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_congenital_cardiac_defects_and_variable_renal_and_ocular_abnormalities 19 low_record_burden_interpretation_limited low_record_burden_gene KCNQ2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 1.0000 condition_record_support_limited 20 0 6 Intellectual_disability 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1OT1 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 5 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene KCNN2 human_phenotype_ontology_hp_0000729_medgen_c0856975 Autistic behavior Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 6 6 1.0000 condition_record_support_limited 20 0 6 Autistic_behavior 19 low_record_burden_interpretation_limited low_record_burden_gene KCNK9 mondo_mondo_0012856_medgen_c2676770_omim_612292_orphanet_166108 Birk-Barel syndrome MONDO:MONDO:0012856,MedGen:C2676770,OMIM:612292,Orphanet:166108 6 6 1.0000 condition_record_support_limited 20 0 2 Birk-Barel_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene KCNJ11 human_phenotype_ontology_hp_0004904_mondo_mondo_0018911_medgen_c0342276_omim_ps125850_orphanet_552 Maturity-onset diabetes of the young Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552 6 6 1.0000 condition_record_support_limited 20 0 6 Maturity-onset_diabetes_of_the_young 72 single_exon_hotspot_opportunity local_compact_architecture KCNH5 mondo_mondo_0957812_medgen_c5882700_omim_620537 Developmental and epileptic encephalopathy 112 MONDO:MONDO:0957812,MedGen:C5882700,OMIM:620537 6 6 1.0000 condition_record_support_limited 20 0 2 Developmental_and_epileptic_encephalopathy_112 11 low_record_burden_interpretation_limited low_record_burden_gene KCNE1 mondo_mondo_0012871_medgen_c2676723_omim_612347_orphanet_768_orphanet_90647 Jervell and Lange-Nielsen syndrome 2 MONDO:MONDO:0012871,MedGen:C2676723,OMIM:612347,Orphanet:768,Orphanet:90647 6 6 1.0000 condition_record_support_limited 20 0 5 Jervell_and_Lange-Nielsen_syndrome_2 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCND2 medgen_c0270855 Early myoclonic encephalopathy MedGen:C0270855 6 6 1.0000 condition_record_support_limited 20 0 3 Early_myoclonic_encephalopathy 8 low_record_burden_interpretation_limited low_record_burden_gene KCNC3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene KCNC3 mondo_mondo_0011529_medgen_c1854488_omim_605259_orphanet_98768 Spinocerebellar ataxia type 13 MONDO:MONDO:0011529,MedGen:C1854488,OMIM:605259,Orphanet:98768 6 6 1.0000 condition_record_support_limited 20 0 2 Spinocerebellar_ataxia_type_13 11 low_record_burden_interpretation_limited low_record_burden_gene KCNC1 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 3 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene KCNB1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNA2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KAT6B human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture JAG1 mondo_mondo_0007318_mesh_d016738_medgen_c0085280_omim_ps118450_orphanet_52 Arteriohepatic dysplasia MONDO:MONDO:0007318,MeSH:D016738,MedGen:C0085280,OMIM:PS118450,Orphanet:52 6 6 1.0000 condition_record_support_limited 20 0 4 Arteriohepatic_dysplasia 461 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA4 mondo_mondo_0012024_medgen_c1842127_omim_608380_orphanet_791 Retinitis pigmentosa 26 MONDO:MONDO:0012024,MedGen:C1842127,OMIM:608380,Orphanet:791 6 6 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa_26 7 low_record_burden_interpretation_limited low_record_burden_gene INVS invs_related_disorder INVS-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 INVS-related_disorder 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INTS11 mondo_mondo_0957386_medgen_c5830596_omim_620428 Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities MONDO:MONDO:0957386,MedGen:C5830596,OMIM:620428 6 6 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_motor_and_language_delay,_ocular_defects,_and_brain_abnormalities 6 low_record_burden_interpretation_limited low_record_burden_gene INS ins_related_disorder INS-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 4 INS-related_disorder 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INPP5E human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Rod-cone dystrophy Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 6 6 1.0000 condition_record_support_limited 20 0 5 Rod-cone_dystrophy 79 compact_adjacent_exon_block_opportunity local_compact_architecture INPP4A mondo_mondo_0980699_medgen_cn379987_omim_621354 Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech MONDO:MONDO:0980699,MedGen:CN379987,OMIM:621354 6 6 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_growth_impairment,_quadriparesis,_and_poor_or_absent_speech 8 low_record_burden_interpretation_limited low_record_burden_gene IMPG1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL12RB1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided|not_specified 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 ighmbp2_related_disorder IGHMBP2-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 IGHMBP2-related_disorder 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGF1 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene IFT52 mondo_mondo_0014915_medgen_c4310718_omim_617102 Short-rib thoracic dysplasia 16 with or without polydactyly MONDO:MONDO:0014915,MedGen:C4310718,OMIM:617102 6 6 1.0000 condition_record_support_limited 20 0 2 Short-rib_thoracic_dysplasia_16_with_or_without_polydactyly 7 low_record_burden_interpretation_limited low_record_burden_gene IFT140 mondo_mondo_0004691_medgen_c0085413_orphanet_730 Autosomal dominant polycystic kidney disease MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730 6 6 1.0000 condition_record_support_limited 20 0 2 Autosomal_dominant_polycystic_kidney_disease 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFNGR1 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDH3A mondo_mondo_0033563_medgen_c5436588_omim_619007 Retinitis pigmentosa 90 MONDO:MONDO:0033563,MedGen:C5436588,OMIM:619007 6 6 1.0000 condition_record_support_limited 20 0 3 Retinitis_pigmentosa_90 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HUWE1 huwe1_related_disorder HUWE1-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 1 HUWE1-related_disorder 75 large_gene_or_donor_burden_stress_case donor_burden_stress HSPB8 mondo_mondo_0012096_medgen_c1837552_omim_608673_orphanet_99945 Charcot-Marie-Tooth disease axonal type 2L MONDO:MONDO:0012096,MedGen:C1837552,OMIM:608673,Orphanet:99945 6 6 1.0000 condition_record_support_limited 20 0 4 Charcot-Marie-Tooth_disease_axonal_type_2L 16 low_record_burden_interpretation_limited low_record_burden_gene HR mondo_mondo_0008757_medgen_c1859877_omim_203655_orphanet_701 Alopecia universalis congenita MONDO:MONDO:0008757,MedGen:C1859877,OMIM:203655,Orphanet:701 6 6 1.0000 condition_record_support_limited 20 0 1 Alopecia_universalis_congenita 33 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture HESX1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 21 compact_adjacent_exon_block_opportunity local_compact_architecture HES7 mondo_mondo_0013366_medgen_c3150942_omim_613686_orphanet_2311 Spondylocostal dysostosis 4, autosomal recessive MONDO:MONDO:0013366,MedGen:C3150942,OMIM:613686,Orphanet:2311 6 6 1.0000 condition_record_support_limited 20 0 2 Spondylocostal_dysostosis_4,_autosomal_recessive 7 low_record_burden_interpretation_limited low_record_burden_gene HBG1 mondo_mondo_0020989_medgen_c0019025_omim_141749 Hereditary persistence of fetal hemoglobin MONDO:MONDO:0020989,MedGen:C0019025,OMIM:141749 6 6 1.0000 condition_record_support_limited 20 0 2 Hereditary_persistence_of_fetal_hemoglobin 6 low_record_burden_interpretation_limited low_record_burden_gene HARS1 mondo_mondo_0014711_medgen_c5567486_omim_616625_orphanet_488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W MONDO:MONDO:0014711,MedGen:C5567486,OMIM:616625,Orphanet:488333 6 6 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_Charcot-Marie-Tooth_disease_type_2W 10 low_record_burden_interpretation_limited low_record_burden_gene HAMP mondo_mondo_0013220_medgen_c1865616_omim_613313_orphanet_79230 Hemochromatosis type 2B MONDO:MONDO:0013220,MedGen:C1865616,OMIM:613313,Orphanet:79230 6 6 1.0000 condition_record_support_limited 20 0 2 Hemochromatosis_type_2B 8 low_record_burden_interpretation_limited low_record_burden_gene HAAO congenital_nad_deficiency_disorder Congenital NAD deficiency disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 Congenital_NAD_deficiency_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene GZF1 mondo_mondo_0060556_medgen_c4540020_omim_617662_orphanet_527450 Joint laxity, short stature, and myopia MONDO:MONDO:0060556,MedGen:C4540020,OMIM:617662,Orphanet:527450 6 6 1.0000 condition_record_support_limited 20 0 2 Joint_laxity,_short_stature,_and_myopia 12 low_record_burden_interpretation_limited low_record_burden_gene GTF2H5 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene GTF2H5 mondo_mondo_0014619_medgen_c4017171_omim_616395_orphanet_33364 Trichothiodystrophy 3, photosensitive MONDO:MONDO:0014619,MedGen:C4017171,OMIM:616395,Orphanet:33364 6 6 1.0000 condition_record_support_limited 20 0 2 Trichothiodystrophy_3,_photosensitive 10 low_record_burden_interpretation_limited low_record_burden_gene GSN mondo_mondo_0007097_medgen_c1622345_omim_105120_orphanet_85448 Finnish type amyloidosis MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120,Orphanet:85448 6 6 1.0000 condition_record_support_limited 20 0 3 Finnish_type_amyloidosis 6 low_record_burden_interpretation_limited low_record_burden_gene GRM6 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRM1 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene GRM1 mondo_mondo_0013905_medgen_c3553816_omim_614831_orphanet_324262 Autosomal recessive spinocerebellar ataxia 13 MONDO:MONDO:0013905,MedGen:C3553816,OMIM:614831,Orphanet:324262 6 6 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_spinocerebellar_ataxia_13 14 low_record_burden_interpretation_limited low_record_burden_gene GRIN2B grin2b_related_disorder GRIN2B-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 5 GRIN2B-related_disorder 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP9 medgen_c1856448 Bernard-Soulier syndrome type C MedGen:C1856448 6 6 1.0000 condition_record_support_limited 20 0 5 Bernard-Soulier_syndrome_type_C 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GOLGA2 mondo_mondo_0859375_medgen_c5830270_omim_620240 Developmental delay with hypotonia, myopathy, and brain abnormalities MONDO:MONDO:0859375,MedGen:C5830270,OMIM:620240 6 6 1.0000 condition_record_support_limited 20 0 2 Developmental_delay_with_hypotonia,_myopathy,_and_brain_abnormalities 10 low_record_burden_interpretation_limited low_record_burden_gene GNPTAB mondo_mondo_0009655_medgen_c0086647_omim_252900_orphanet_581_orphanet_79269 Mucopolysaccharidosis, MPS-III-A MONDO:MONDO:0009655,MedGen:C0086647,OMIM:252900,Orphanet:581,Orphanet:79269 6 6 1.0000 condition_record_support_limited 20 0 5 Mucopolysaccharidosis,_MPS-III-A 436 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB5 mondo_mondo_0014957_medgen_c4310678_omim_617182 Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia MONDO:MONDO:0014957,MedGen:C4310678,OMIM:617182 6 6 1.0000 condition_record_support_limited 20 0 6 Language_delay_and_attention_deficit-hyperactivity_disorder/cognitive_impairment_with_or_without_cardiac_arrhythmia 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB4 mondo_mondo_0014074_medgen_c4749463_omim_615185_orphanet_352670 Charcot-Marie-Tooth disease dominant intermediate F MONDO:MONDO:0014074,MedGen:C4749463,OMIM:615185,Orphanet:352670 6 6 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease_dominant_intermediate_F 6 low_record_burden_interpretation_limited low_record_burden_gene GNAI3 mondo_mondo_0011234_medgen_c4551996_omim_602483_orphanet_137888 Auriculocondylar syndrome 1 MONDO:MONDO:0011234,MedGen:C4551996,OMIM:602483,Orphanet:137888 6 6 1.0000 condition_record_support_limited 20 0 2 Auriculocondylar_syndrome_1 9 low_record_burden_interpretation_limited low_record_burden_gene GNAI1 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 3 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GMPPB human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 6 6 1.0000 condition_record_support_limited 20 0 5 Abnormality_of_the_musculature 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLUL mondo_mondo_0012393_medgen_c1864910_omim_610015_orphanet_71278 Congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:MONDO:0012393,MedGen:C1864910,OMIM:610015,Orphanet:71278 6 6 1.0000 condition_record_support_limited 20 0 1 Congenital_brain_dysgenesis_due_to_glutamine_synthetase_deficiency 13 low_record_burden_interpretation_limited low_record_burden_gene GLS condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene GLDN condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 3 not_provided 26 compact_adjacent_exon_block_opportunity local_compact_architecture GJC2 mondo_mondo_0013179_medgen_c2750784_omim_613206_orphanet_320401 Hereditary spastic paraplegia 44 MONDO:MONDO:0013179,MedGen:C2750784,OMIM:613206,Orphanet:320401 6 6 1.0000 condition_record_support_limited 20 0 4 Hereditary_spastic_paraplegia_44 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA5 mondo_mondo_0013544_medgen_c3279693_omim_614049 Atrial fibrillation, familial, 11 MONDO:MONDO:0013544,MedGen:C3279693,OMIM:614049 6 6 1.0000 condition_record_support_limited 20 0 2 Atrial_fibrillation,_familial,_11 7 low_record_burden_interpretation_limited low_record_burden_gene GJA3 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GHR mondo_mondo_0015892_medgen_c4318479_orphanet_181393 Growth hormone insensitivity syndrome MONDO:MONDO:0015892,MedGen:C4318479,Orphanet:181393 6 6 1.0000 condition_record_support_limited 20 0 5 Growth_hormone_insensitivity_syndrome 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GFER mondo_mondo_0013116_medgen_c2751320_omim_613076_orphanet_330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome MONDO:MONDO:0013116,MedGen:C2751320,OMIM:613076,Orphanet:330054 6 6 1.0000 condition_record_support_limited 20 0 3 Congenital_cataract-progressive_muscular_hypotonia-hearing_loss-developmental_delay_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene GDF5 mondo_mondo_0014125_medgen_c3809104_omim_615298_orphanet_3250 Symphalangism, proximal, 1B MONDO:MONDO:0014125,MedGen:C3809104,OMIM:615298,Orphanet:3250 6 6 1.0000 condition_record_support_limited 20 0 5 Symphalangism,_proximal,_1B 52 compact_adjacent_exon_block_opportunity local_compact_architecture GDAP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBE1 mondo_mondo_0017698_medgen_c1856304_orphanet_308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form MONDO:MONDO:0017698,MedGen:C1856304,Orphanet:308670 6 6 1.0000 condition_record_support_limited 20 0 6 Glycogen_storage_disease_due_to_glycogen_branching_enzyme_deficiency,_congenital_neuromuscular_form 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATM mondo_mondo_0024525_medgen_c4551503_omim_134600 Fanconi renotubular syndrome 1 MONDO:MONDO:0024525,MedGen:C4551503,OMIM:134600 6 6 1.0000 condition_record_support_limited 20 0 3 Fanconi_renotubular_syndrome_1 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATAD1 pex1_related_disorder PEX1-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 4 PEX1-related_disorder 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA1 mondo_mondo_0020526_medgen_c5925108_orphanet_99887 Acute megakaryoblastic leukemia in down syndrome MONDO:MONDO:0020526,MedGen:C5925108,Orphanet:99887 6 6 1.0000 condition_record_support_limited 20 0 1 Acute_megakaryoblastic_leukemia_in_down_syndrome 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GARS1 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 6 6 1.0000 condition_record_support_limited 20 0 6 Charcot-Marie-Tooth_disease 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALT mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 333 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALNS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 299 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALNS galns_related_disorder GALNS-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 GALNS-related_disorder 299 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FZD6 mondo_mondo_0008060_medgen_c0406443_omim_161050_orphanet_280654_orphanet_79153 Nonsyndromic congenital nail disorder 1 MONDO:MONDO:0008060,MedGen:C0406443,OMIM:161050,Orphanet:280654,Orphanet:79153 6 6 1.0000 condition_record_support_limited 20 0 2 Nonsyndromic_congenital_nail_disorder_1 7 low_record_burden_interpretation_limited low_record_burden_gene FXN mondo_mondo_0100339_medgen_c0016719_orphanet_95 Friedreich ataxia MONDO:MONDO:0100339,MedGen:C0016719,Orphanet:95 6 6 1.0000 condition_record_support_limited 20 0 3 Friedreich_ataxia 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FUT8 mondo_mondo_0020775_medgen_cn258220_omim_618005 Congenital disorder of glycosylation with defective fucosylation 1 MONDO:MONDO:0020775,MedGen:CN258220,OMIM:618005 6 6 1.0000 condition_record_support_limited 20 0 1 Congenital_disorder_of_glycosylation_with_defective_fucosylation_1 7 low_record_burden_interpretation_limited low_record_burden_gene FUS fus_related_disorder FUS-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 5 FUS-related_disorder 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FREM2 frem2_related_disorder FREM2-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 3 FREM2-related_disorder 129 compact_adjacent_exon_block_opportunity local_compact_architecture FOXJ1 mondo_mondo_0032874_medgen_c5231466_omim_618699 Ciliary dyskinesia, primary, 43 MONDO:MONDO:0032874,MedGen:C5231466,OMIM:618699 6 6 1.0000 condition_record_support_limited 20 0 1 Ciliary_dyskinesia,_primary,_43 8 low_record_burden_interpretation_limited low_record_burden_gene FOXH1 human_phenotype_ontology_hp_0001710_medgen_c1853238 Conotruncal defect Human_Phenotype_Ontology:HP:0001710,MedGen:C1853238 6 6 1.0000 condition_record_support_limited 20 0 0 Conotruncal_defect 6 low_record_burden_interpretation_limited low_record_burden_gene FOXG1 foxg1_related_disorder FOXG1-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 3 FOXG1-related_disorder 278 single_exon_hotspot_opportunity local_compact_architecture FNIP1 mondo_mondo_0030528_medgen_c5676899_omim_619705_orphanet_693647 Immunodeficiency 93 and hypertrophic cardiomyopathy MONDO:MONDO:0030528,MedGen:C5676899,OMIM:619705,Orphanet:693647 6 6 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency_93_and_hypertrophic_cardiomyopathy 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FMR1 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 1 See_cases|not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FMR1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FMN2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 1 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene FLNB mondo_mondo_0007168_medgen_c3668942_omim_108721_orphanet_56305 Atelosteogenesis type III MONDO:MONDO:0007168,MedGen:C3668942,OMIM:108721,Orphanet:56305 6 6 1.0000 condition_record_support_limited 20 0 4 Atelosteogenesis_type_III 153 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA human_phenotype_ontology_hp_0032388_mondo_mondo_0020341_mesh_d054091_medgen_c1868720_omim_ps300049_orphanet_98892 Periventricular nodular heterotopia Human_Phenotype_Ontology:HP:0032388,MONDO:MONDO:0020341,MeSH:D054091,MedGen:C1868720,OMIM:PS300049,Orphanet:98892 6 6 1.0000 condition_record_support_limited 20 0 3 Periventricular_nodular_heterotopia 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA mondo_mondo_0010297_medgen_c1845902_omim_300321 FG syndrome 2 MONDO:MONDO:0010297,MedGen:C1845902,OMIM:300321 6 6 1.0000 condition_record_support_limited 20 0 4 FG_syndrome_2 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLG mondo_mondo_0007810_medgen_c0432300 Autosomal dominant ichthyosis vulgaris MONDO:MONDO:0007810,MedGen:C0432300 6 6 1.0000 condition_record_support_limited 20 0 4 Autosomal_dominant_ichthyosis_vulgaris 246 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FKBP10 mondo_mondo_0013460_medgen_c3151433_omim_613849_orphanet_666 Osteogenesis imperfecta type 12 MONDO:MONDO:0013460,MedGen:C3151433,OMIM:613849,Orphanet:666 6 6 1.0000 condition_record_support_limited 20 0 4 Osteogenesis_imperfecta_type_12 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FILIP1 mondo_mondo_0958332_medgen_c5935643_omim_620775 Neuromuscular disorder, congenital, with dysmorphic facies MONDO:MONDO:0958332,MedGen:C5935643,OMIM:620775 6 6 1.0000 condition_record_support_limited 20 0 0 Neuromuscular_disorder,_congenital,_with_dysmorphic_facies 6 low_record_burden_interpretation_limited low_record_burden_gene FHL1 mondo_mondo_0010400_medgen_c2678061_omim_300695_orphanet_431272 X-linked scapuloperoneal muscular dystrophy MONDO:MONDO:0010400,MedGen:C2678061,OMIM:300695,Orphanet:431272 6 6 1.0000 condition_record_support_limited 20 0 5 X-linked_scapuloperoneal_muscular_dystrophy 101 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 common_craniosynostosis_syndromes Common craniosynostosis syndromes . 6 6 1.0000 condition_record_support_limited 20 0 6 Common_craniosynostosis_syndromes 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 mondo_mondo_0007794_medgen_c0342384_omim_146110_orphanet_432 Hypogonadotropic hypogonadism 7 with or without anosmia MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432 6 6 1.0000 condition_record_support_limited 20 0 6 Hypogonadotropic_hypogonadism_7_with_or_without_anosmia 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 medgen_c4016104 Hypogonadotropic hypogonadism 2 with anosmia MedGen:C4016104 6 6 1.0000 condition_record_support_limited 20 0 4 Hypogonadotropic_hypogonadism_2_with_anosmia 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGF23 mondo_mondo_0008660_medgen_c0342642_omim_193100_orphanet_89937 Autosomal dominant hypophosphatemic rickets MONDO:MONDO:0008660,MedGen:C0342642,OMIM:193100,Orphanet:89937 6 6 1.0000 condition_record_support_limited 20 0 5 Autosomal_dominant_hypophosphatemic_rickets 13 low_record_burden_interpretation_limited low_record_burden_gene FGF13 mondo_mondo_0025353_medgen_c5542345_omim_301058 Developmental and epileptic encephalopathy, 90 MONDO:MONDO:0025353,MedGen:C5542345,OMIM:301058 6 6 1.0000 condition_record_support_limited 20 0 2 Developmental_and_epileptic_encephalopathy,_90 6 low_record_burden_interpretation_limited low_record_burden_gene FGF10 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 25 compact_adjacent_exon_block_opportunity local_compact_architecture FDXR mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FCHO1 mondo_mondo_0018542_medgen_c1853118_omim_ps202700_orphanet_42738 Severe congenital neutropenia MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738 6 6 1.0000 condition_record_support_limited 20 0 5 Severe_congenital_neutropenia 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FCHO1 mondo_mondo_0030898_medgen_c5543004_omim_619164_orphanet_647804 Immunodeficiency 76 MONDO:MONDO:0030898,MedGen:C5543004,OMIM:619164,Orphanet:647804 6 6 1.0000 condition_record_support_limited 20 0 4 Immunodeficiency_76 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBN1 familial_aortopathy Familial aortopathy MedGen:CN078214 6 6 1.0000 condition_record_support_limited 20 0 4 Familial_aortopathy 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FARSB condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene FARS2 mondo_mondo_0014882_medgen_c5569007_omim_617046_orphanet_466722 Hereditary spastic paraplegia 77 MONDO:MONDO:0014882,MedGen:C5569007,OMIM:617046,Orphanet:466722 6 6 1.0000 condition_record_support_limited 20 0 5 Hereditary_spastic_paraplegia_77 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FARS2 fars2_related_disorder FARS2-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 FARS2-related_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCD2OS condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 6 not_provided 72 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCB condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 2 See_cases|not_provided 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCB mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 Fanconi anemia MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 6 6 1.0000 condition_record_support_limited 20 0 2 Fanconi_anemia 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAM111A mondo_mondo_0011215_medgen_c1865639_omim_602361_orphanet_2763 Osteocraniostenosis MONDO:MONDO:0011215,MedGen:C1865639,OMIM:602361,Orphanet:2763 6 6 1.0000 condition_record_support_limited 20 0 3 Osteocraniostenosis 7 low_record_burden_interpretation_limited low_record_burden_gene F9 mondo_mondo_0850054_medgen_c5848256_orphanet_617930 Hemophilia B leyden MONDO:MONDO:0850054,MedGen:C5848256,Orphanet:617930 6 6 1.0000 condition_record_support_limited 20 0 2 Hemophilia_B_leyden 299 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F2 mondo_mondo_0008559_medgen_c3160733_omim_188050 Thrombophilia due to thrombin defect MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050 6 6 1.0000 condition_record_support_limited 20 0 5 Thrombophilia_due_to_thrombin_defect 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F10 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETFDH mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 301 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERF erf_related_disorder ERF-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 3 ERF-related_disorder 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERF mondo_mondo_0014956_medgen_c4310679_omim_617180 Chitayat syndrome MONDO:MONDO:0014956,MedGen:C4310679,OMIM:617180 6 6 1.0000 condition_record_support_limited 20 0 6 Chitayat_syndrome 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC1 mondo_mondo_0012554_medgen_c1853100_omim_610758 Cerebrooculofacioskeletal syndrome 4 MONDO:MONDO:0012554,MedGen:C1853100,OMIM:610758 6 6 1.0000 condition_record_support_limited 20 0 2 Cerebrooculofacioskeletal_syndrome_4 15 low_record_burden_interpretation_limited low_record_burden_gene ERBB4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 10 low_record_burden_interpretation_limited low_record_burden_gene ERBB3 mondo_mondo_0011868_medgen_c1843478_omim_607598_orphanet_137776 Lethal congenital contracture syndrome 2 MONDO:MONDO:0011868,MedGen:C1843478,OMIM:607598,Orphanet:137776 6 6 1.0000 condition_record_support_limited 20 0 4 Lethal_congenital_contracture_syndrome_2 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERBB2 human_phenotype_ontology_hp_0030078_mondo_mondo_0005061_mesh_d000077192_medgen_c0152013 Lung adenocarcinoma Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013 6 6 1.0000 condition_record_support_limited 20 0 3 Lung_adenocarcinoma 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPB42 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene EPAS1 mondo_mondo_0012729_medgen_c2673187_omim_611783_orphanet_247511 Erythrocytosis, familial, 4 MONDO:MONDO:0012729,MedGen:C2673187,OMIM:611783,Orphanet:247511 6 6 1.0000 condition_record_support_limited 20 0 2 Erythrocytosis,_familial,_4 8 low_record_burden_interpretation_limited low_record_burden_gene ENAM condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene ELP4 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 3 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene ELOVL4 mondo_mondo_0013760_medgen_c3280856_omim_614457_orphanet_352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:MONDO:0013760,MedGen:C3280856,OMIM:614457,Orphanet:352333 6 6 1.0000 condition_record_support_limited 20 0 4 Congenital_ichthyosis-intellectual_disability-spastic_quadriplegia_syndrome 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2B3 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 5 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene EHMT1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EGR2 mondo_mondo_0011890_medgen_c1843247_omim_607678_orphanet_101084 Charcot-Marie-Tooth disease type 1D MONDO:MONDO:0011890,MedGen:C1843247,OMIM:607678,Orphanet:101084 6 6 1.0000 condition_record_support_limited 20 0 6 Charcot-Marie-Tooth_disease_type_1D 18 low_record_burden_interpretation_limited low_record_burden_gene EGFR tyrosine_kinase_inhibitor_response Tyrosine kinase inhibitor response MedGen:CN225347 6 6 1.0000 condition_record_support_limited 20 0 6 Tyrosine_kinase_inhibitor_response 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFEMP2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFEMP1 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 3 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene EDN3 mondo_mondo_0013201_medgen_c2750457_omim_613265_orphanet_897 Waardenburg syndrome type 4B MONDO:MONDO:0013201,MedGen:C2750457,OMIM:613265,Orphanet:897 6 6 1.0000 condition_record_support_limited 20 0 0 Waardenburg_syndrome_type_4B 7 low_record_burden_interpretation_limited low_record_burden_gene EBP mondo_mondo_0010498_medgen_c4085243_omim_300960_orphanet_401973 MEND syndrome MONDO:MONDO:0010498,MedGen:C4085243,OMIM:300960,Orphanet:401973 6 6 1.0000 condition_record_support_limited 20 0 4 MEND_syndrome 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DVL3 mondo_mondo_0014591_medgen_c4225363_omim_616331_orphanet_3107_orphanet_97360 Autosomal dominant Robinow syndrome 2 MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360 6 6 1.0000 condition_record_support_limited 20 0 5 Autosomal_dominant_Robinow_syndrome_2 19 low_record_burden_interpretation_limited low_record_burden_gene DVL3 mondo_mondo_0024455_medgen_c4551475_omim_180700_orphanet_3107_orphanet_97360 Autosomal dominant Robinow syndrome 1 MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700,Orphanet:3107,Orphanet:97360 6 6 1.0000 condition_record_support_limited 20 0 5 Autosomal_dominant_Robinow_syndrome_1 19 low_record_burden_interpretation_limited low_record_burden_gene DUOX2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 239 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DST congenital_myopathy_29_with_contractures CONGENITAL MYOPATHY 29 WITH CONTRACTURES MedGen:CN380903,OMIM:621510 6 6 1.0000 condition_record_support_limited 20 0 1 CONGENITAL_MYOPATHY_29_WITH_CONTRACTURES 196 large_gene_or_donor_burden_stress_case donor_burden_stress DSPP human_phenotype_ontology_hp_0003771_medgen_c1527284_orphanet_1653 Pulp calcification Human_Phenotype_Ontology:HP:0003771,MedGen:C1527284,Orphanet:1653 6 6 1.0000 condition_record_support_limited 20 0 1 Pulp_calcification 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSP efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 Cardiac arrhythmia EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 6 6 1.0000 condition_record_support_limited 20 0 6 Cardiac_arrhythmia 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSG1 mondo_mondo_0014218_medgen_c3809719_omim_615508_orphanet_369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:MONDO:0014218,MedGen:C3809719,OMIM:615508,Orphanet:369992 6 6 1.0000 condition_record_support_limited 20 0 3 Severe_dermatitis-multiple_allergies-metabolic_wasting_syndrome 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DRC9 mondo_mondo_0012925_medgen_c2675859_omim_612528_orphanet_124 Diamond-Blackfan anemia 5 MONDO:MONDO:0012925,MedGen:C2675859,OMIM:612528,Orphanet:124 6 6 1.0000 condition_record_support_limited 20 0 1 Diamond-Blackfan_anemia_5 7 low_record_burden_interpretation_limited low_record_burden_gene DRC1 mondo_mondo_0859364_medgen_c5774301_omim_620222 Spermatogenic failure 80 MONDO:MONDO:0859364,MedGen:C5774301,OMIM:620222 6 6 1.0000 condition_record_support_limited 20 0 3 Spermatogenic_failure_80 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DPY19L2 mondo_mondo_0013505_medgen_c3151407_omim_613958_orphanet_171709 Spermatogenic failure 9 MONDO:MONDO:0013505,MedGen:C3151407,OMIM:613958,Orphanet:171709 6 6 1.0000 condition_record_support_limited 20 0 1 Spermatogenic_failure_9 7 low_record_burden_interpretation_limited low_record_burden_gene DPM1 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DPH1 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 3 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene DNMT1 mondo_mondo_0011397_medgen_c4302668_omim_604121_orphanet_314404 Autosomal dominant cerebellar ataxia, deafness and narcolepsy MONDO:MONDO:0011397,MedGen:C4302668,OMIM:604121,Orphanet:314404 6 6 1.0000 condition_record_support_limited 20 0 4 Autosomal_dominant_cerebellar_ataxia,_deafness_and_narcolepsy 13 low_record_burden_interpretation_limited low_record_burden_gene DNASE1L1 mondo_mondo_0010543_medgen_c0574083_omim_302060_orphanet_111 3-Methylglutaconic aciduria type 2 MONDO:MONDO:0010543,MedGen:C0574083,OMIM:302060,Orphanet:111 6 6 1.0000 condition_record_support_limited 20 0 1 3-Methylglutaconic_aciduria_type_2 8 low_record_burden_interpretation_limited low_record_burden_gene DNAJC30 mondo_mondo_0958183_medgen_cn376811_omim_619382 Leber-like hereditary optic neuropathy, autosomal recessive 1 MONDO:MONDO:0958183,MedGen:CN376811,OMIM:619382 6 6 1.0000 condition_record_support_limited 20 0 1 Leber-like_hereditary_optic_neuropathy,_autosomal_recessive_1 9 low_record_burden_interpretation_limited low_record_burden_gene DNAJB6 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 6 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene DNAJB11 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAI2 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 6 not_provided 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF6 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 0 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene DNAAF4 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 6 6 1.0000 condition_record_support_limited 20 0 4 Primary_ciliary_dyskinesia 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNA2 mondo_mondo_0970950_medgen_c5935619_omim_620819 Rothmund-Thomson syndrome type 4 MONDO:MONDO:0970950,MedGen:C5935619,OMIM:620819 6 6 1.0000 condition_record_support_limited 20 0 6 Rothmund-Thomson_syndrome_type_4 17 low_record_burden_interpretation_limited low_record_burden_gene DNA2 mondo_mondo_0010002_medgen_c0032339_omim_ps268400_orphanet_2909 Rothmund-Thomson syndrome MONDO:MONDO:0010002,MedGen:C0032339,OMIM:PS268400,Orphanet:2909 6 6 1.0000 condition_record_support_limited 20 0 6 Rothmund-Thomson_syndrome 17 low_record_burden_interpretation_limited low_record_burden_gene DMP1 mondo_mondo_0009430_medgen_c4551495_omim_241520_orphanet_289176 Hypophosphatemic rickets, autosomal recessive, 1 MONDO:MONDO:0009430,MedGen:C4551495,OMIM:241520,Orphanet:289176 6 6 1.0000 condition_record_support_limited 20 0 4 Hypophosphatemic_rickets,_autosomal_recessive,_1 18 low_record_burden_interpretation_limited low_record_burden_gene DIP2C mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 17 low_record_burden_interpretation_limited low_record_burden_gene DICER1 human_phenotype_ontology_hp_0030408_human_phenotype_ontology_hp_0040193_mondo_mondo_0016722_medgen_c0205898_orphanet_251909 Pineoblastoma Human_Phenotype_Ontology:HP:0030408,Human_Phenotype_Ontology:HP:0040193,MONDO:MONDO:0016722,MedGen:C0205898,Orphanet:251909 6 6 1.0000 condition_record_support_limited 20 0 6 Pineoblastoma 833 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control DHX9 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 1 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene DHX37 human_phenotype_ontology_hp_0012870_mondo_mondo_8000015_medgen_c0266427_omim_273250_orphanet_983 46,XY sex reversal 11 Human_Phenotype_Ontology:HP:0012870,MONDO:MONDO:8000015,MedGen:C0266427,OMIM:273250,Orphanet:983 6 6 1.0000 condition_record_support_limited 20 0 3 46,XY_sex_reversal_11 15 low_record_burden_interpretation_limited low_record_burden_gene DHX16 mondo_mondo_0032890_medgen_c5231483_omim_618733 Neuromuscular disease and ocular or auditory anomalies with or without seizures MONDO:MONDO:0032890,MedGen:C5231483,OMIM:618733 6 6 1.0000 condition_record_support_limited 20 0 4 Neuromuscular_disease_and_ocular_or_auditory_anomalies_with_or_without_seizures 7 low_record_burden_interpretation_limited low_record_burden_gene DEF6 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene DEAF1 deaf1_related_disorder DEAF1-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 3 DEAF1-related_disorder 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCX mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 165 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCPS mondo_mondo_0014648_medgen_c4085595_omim_616459 Al-Raqad syndrome MONDO:MONDO:0014648,MedGen:C4085595,OMIM:616459 6 6 1.0000 condition_record_support_limited 20 0 0 Al-Raqad_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene DCC human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Corpus callosum, agenesis of Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 6 6 1.0000 condition_record_support_limited 20 0 4 Corpus_callosum,_agenesis_of 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DACT1 mondo_mondo_0054582_medgen_c4479534_omim_617466 Townes-Brocks syndrome 2 MONDO:MONDO:0054582,MedGen:C4479534,OMIM:617466 6 6 1.0000 condition_record_support_limited 20 0 0 Townes-Brocks_syndrome_2 8 low_record_burden_interpretation_limited low_record_burden_gene D2HGDH condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 3 not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYGB mondo_mondo_0012523_medgen_c1864621_omim_610599_orphanet_791 Retinitis pigmentosa 36 MONDO:MONDO:0012523,MedGen:C1864621,OMIM:610599,Orphanet:791 6 6 1.0000 condition_record_support_limited 20 0 4 Retinitis_pigmentosa_36 13 low_record_burden_interpretation_limited low_record_burden_gene CYGB human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 6 6 1.0000 condition_record_support_limited 20 0 5 Retinitis_pigmentosa 13 low_record_burden_interpretation_limited low_record_burden_gene CUX1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSC condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 5 See_cases|not_provided 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSA medgen_c4017292 GALACTOSIALIDOSIS, LATE INFANTILE MedGen:C4017292 6 6 1.0000 condition_record_support_limited 20 0 3 GALACTOSIALIDOSIS,_LATE_INFANTILE 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTR9 condition_not_provided condition not provided .|MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 2 See_cases|not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene CTNNA2 mondo_mondo_0032578_medgen_c4748540_omim_618174 Cortical dysplasia, complex, with other brain malformations 9 MONDO:MONDO:0032578,MedGen:C4748540,OMIM:618174 6 6 1.0000 condition_record_support_limited 20 0 0 Cortical_dysplasia,_complex,_with_other_brain_malformations_9 8 low_record_burden_interpretation_limited low_record_burden_gene CTNNA1 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 6 6 1.0000 condition_record_support_limited 20 0 1 Colorectal_cancer 233 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTC1 ctc1_related_disorder CTC1-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 5 CTC1-related_disorder 136 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSRP3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided|not_specified 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSGALNACT1 mondo_mondo_0030029_medgen_c5394341_omim_618870 Skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:MONDO:0030029,MedGen:C5394341,OMIM:618870 6 6 1.0000 condition_record_support_limited 20 0 0 Skeletal_dysplasia,_mild,_with_joint_laxity_and_advanced_bone_age 16 low_record_burden_interpretation_limited low_record_burden_gene CRYAA condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 6 not_provided|not_specified 11 low_record_burden_interpretation_limited low_record_burden_gene CRB2 crb2_related_disorder CRB2-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 3 CRB2-related_disorder 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPSF1 mondo_mondo_0032941_medgen_c5394215_omim_618827 Myopia 27 MONDO:MONDO:0032941,MedGen:C5394215,OMIM:618827 6 6 1.0000 condition_record_support_limited 20 0 0 Myopia_27 8 low_record_burden_interpretation_limited low_record_burden_gene CPLANE1 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 6 6 1.0000 condition_record_support_limited 20 0 3 Joubert_syndrome 343 large_gene_or_donor_burden_stress_case donor_burden_stress COLQ medgen_c5681640_orphanet_98915 Synaptic congenital myasthenic syndromes MedGen:C5681640,Orphanet:98915 6 6 1.0000 condition_record_support_limited 20 0 4 Synaptic_congenital_myasthenic_syndromes 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COLQ human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 6 6 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL7A1 mondo_mondo_0006541_mesh_d004820_medgen_c0014527 Epidermolysis bullosa MONDO:MONDO:0006541,MeSH:D004820,MedGen:C0014527 6 6 1.0000 condition_record_support_limited 20 0 5 Epidermolysis_bullosa 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Abnormality of the skin Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 6 6 1.0000 condition_record_support_limited 20 0 4 Abnormality_of_the_skin 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL6A3 mondo_mondo_0014627_medgen_c4225336_omim_616411_orphanet_464440 Dystonia 27 MONDO:MONDO:0014627,MedGen:C4225336,OMIM:616411,Orphanet:464440 6 6 1.0000 condition_record_support_limited 20 0 5 Dystonia_27 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL2A1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 722 large_gene_or_donor_burden_stress_case donor_burden_stress COASY mondo_mondo_0032643_medgen_c4748873_omim_618266_orphanet_611256 Pontocerebellar hypoplasia, type 12 MONDO:MONDO:0032643,MedGen:C4748873,OMIM:618266,Orphanet:611256 6 6 1.0000 condition_record_support_limited 20 0 5 Pontocerebellar_hypoplasia,_type_12 30 compact_adjacent_exon_block_opportunity local_compact_architecture COA7 mondo_mondo_0020770_medgen_c5193070_omim_618387 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:MONDO:0020770,MedGen:C5193070,OMIM:618387 6 6 1.0000 condition_record_support_limited 20 0 0 Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_3 9 low_record_burden_interpretation_limited low_record_burden_gene CNOT3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNOT1 mondo_mondo_0032787_medgen_c5193131_omim_618500 Holoprosencephaly 12 with or without pancreatic agenesis MONDO:MONDO:0032787,MedGen:C5193131,OMIM:618500 6 6 1.0000 condition_record_support_limited 20 0 5 Holoprosencephaly_12_with_or_without_pancreatic_agenesis 45 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CNGB3 cngb3_related_disorder CNGB3-related disorder MedGen:CN239340 6 6 1.0000 condition_record_support_limited 20 0 6 CNGB3-related_disorder 271 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA3 cnga3_related_disorder CNGA3-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 CNGA3-related_disorder 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN3 retinitis_pigmentosa_101 RETINITIS PIGMENTOSA 101 MedGen:CN381042,OMIM:621548 6 6 1.0000 condition_record_support_limited 20 0 5 RETINITIS_PIGMENTOSA_101 220 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLDN19 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 25 compact_adjacent_exon_block_opportunity local_compact_architecture CLDN16 mondo_mondo_0011874_medgen_c1843355_omim_607626_orphanet_59303 Neonatal ichthyosis-sclerosing cholangitis syndrome MONDO:MONDO:0011874,MedGen:C1843355,OMIM:607626,Orphanet:59303 6 6 1.0000 condition_record_support_limited 20 0 0 Neonatal_ichthyosis-sclerosing_cholangitis_syndrome 56 compact_adjacent_exon_block_opportunity local_compact_architecture CLDN1 mondo_mondo_0011874_medgen_c1843355_omim_607626_orphanet_59303 Neonatal ichthyosis-sclerosing cholangitis syndrome MONDO:MONDO:0011874,MedGen:C1843355,OMIM:607626,Orphanet:59303 6 6 1.0000 condition_record_support_limited 20 0 0 Neonatal_ichthyosis-sclerosing_cholangitis_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene CIROP mondo_mondo_0859222_medgen_c5676898_omim_619702 Heterotaxy, visceral, 12, autosomal MONDO:MONDO:0859222,MedGen:C5676898,OMIM:619702 6 6 1.0000 condition_record_support_limited 20 0 0 Heterotaxy,_visceral,_12,_autosomal 8 low_record_burden_interpretation_limited low_record_burden_gene CHSY1 mondo_mondo_0011533_medgen_c1854466_omim_605282_orphanet_363417 Temtamy preaxial brachydactyly syndrome MONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282,Orphanet:363417 6 6 1.0000 condition_record_support_limited 20 0 0 Temtamy_preaxial_brachydactyly_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene CHD8 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 212 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD5 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 6 6 1.0000 condition_record_support_limited 20 0 6 Intellectual_disability 39 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHAF1A mondo_mondo_0015397_medgen_c0265240_omim_ps164210_orphanet_141132 Craniofacial microsomia MONDO:MONDO:0015397,MedGen:C0265240,OMIM:PS164210,Orphanet:141132 6 6 1.0000 condition_record_support_limited 20 0 0 Craniofacial_microsomia 7 low_record_burden_interpretation_limited low_record_burden_gene CFL2 mondo_mondo_0012538_medgen_c1853154_omim_610687_orphanet_171436 Nemaline myopathy 7 MONDO:MONDO:0012538,MedGen:C1853154,OMIM:610687,Orphanet:171436 6 6 1.0000 condition_record_support_limited 20 0 1 Nemaline_myopathy_7 7 low_record_burden_interpretation_limited low_record_burden_gene CFD mondo_mondo_0013487_medgen_c0398764_omim_613912_orphanet_169467 Recurrent Neisseria infections due to factor D deficiency MONDO:MONDO:0013487,MedGen:C0398764,OMIM:613912,Orphanet:169467 6 6 1.0000 condition_record_support_limited 20 0 4 Recurrent_Neisseria_infections_due_to_factor_D_deficiency 14 low_record_burden_interpretation_limited low_record_burden_gene CFAP58 mondo_mondo_0030868_medgen_c5436887_omim_619144 Spermatogenic failure 49 MONDO:MONDO:0030868,MedGen:C5436887,OMIM:619144 6 6 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_49 6 low_record_burden_interpretation_limited low_record_burden_gene CFAP54 mondo_mondo_0700290_medgen_c6012703_omim_621124 Spermatogenic failure 98 MONDO:MONDO:0700290,MedGen:C6012703,OMIM:621124 6 6 1.0000 condition_record_support_limited 20 0 1 Spermatogenic_failure_98 7 low_record_burden_interpretation_limited low_record_burden_gene CFAP418 mondo_mondo_0044308_medgen_c4319932_omim_617406 Bardet-biedl syndrome 21 MONDO:MONDO:0044308,MedGen:C4319932,OMIM:617406 6 6 1.0000 condition_record_support_limited 20 0 3 Bardet-biedl_syndrome_21 26 compact_adjacent_exon_block_opportunity local_compact_architecture CFAP298 mondo_mondo_0014211_medgen_c3809684_omim_615500_orphanet_244 Primary ciliary dyskinesia 26 MONDO:MONDO:0014211,MedGen:C3809684,OMIM:615500,Orphanet:244 6 6 1.0000 condition_record_support_limited 20 0 4 Primary_ciliary_dyskinesia_26 12 low_record_burden_interpretation_limited low_record_burden_gene CERT1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 0 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene CEP83 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 3 not_provided 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEBPE mondo_mondo_0044207_medgen_c4551556_omim_245480_orphanet_169142 Specific granule deficiency 1 MONDO:MONDO:0044207,MedGen:C4551556,OMIM:245480,Orphanet:169142 6 6 1.0000 condition_record_support_limited 20 0 2 Specific_granule_deficiency_1 11 low_record_burden_interpretation_limited low_record_burden_gene CDSN mondo_mondo_0024548_medgen_c5679693_omim_270300_orphanet_263543_orphanet_263553 Peeling skin syndrome 1 MONDO:MONDO:0024548,MedGen:C5679693,OMIM:270300,Orphanet:263543,Orphanet:263553 6 6 1.0000 condition_record_support_limited 20 0 1 Peeling_skin_syndrome_1 9 low_record_burden_interpretation_limited low_record_burden_gene CDKN2A cdkn2a_related_disorder CDKN2A-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 CDKN2A-related_disorder 168 compact_adjacent_exon_block_opportunity local_compact_architecture CDKL5 mondo_mondo_0018097_medgen_c0037769_orphanet_3451_orphanet_697160 West syndrome MONDO:MONDO:0018097,MedGen:C0037769,Orphanet:3451,Orphanet:697160 6 6 1.0000 condition_record_support_limited 20 0 3 West_syndrome 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 6 6 1.0000 condition_record_support_limited 20 0 3 Epileptic_encephalopathy 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 cdkl5_related_disorder CDKL5-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 4 CDKL5-related_disorder 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDK8 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 1 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene CDH3 mondo_mondo_0009155_medgen_c1857041_omim_225280_orphanet_1897 EEM syndrome MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280,Orphanet:1897 6 6 1.0000 condition_record_support_limited 20 0 3 EEM_syndrome 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH2 syndromic_neurodevelopmental_disorder Syndromic neurodevelopmental disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 Syndromic_neurodevelopmental_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH1 cdh1_related_disorder CDH1-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 CDH1-related_disorder 622 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CD36 mondo_mondo_0021024_medgen_c1970028_omim_611162_orphanet_673 Malaria, susceptibility to MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673 6 6 1.0000 condition_record_support_limited 20 0 6 Malaria,_susceptibility_to 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD2AP condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 2 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene CD19 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 0 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene CD19 mondo_mondo_0013283_medgen_c3150738_omim_613493_orphanet_1572 Immunodeficiency, common variable, 3 MONDO:MONDO:0013283,MedGen:C3150738,OMIM:613493,Orphanet:1572 6 6 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency,_common_variable,_3 14 low_record_burden_interpretation_limited low_record_burden_gene CD151 mondo_mondo_0012190_medgen_c1836823_omim_609057_orphanet_300333 Epidermolysis bullosa simplex 7, with nephropathy and deafness MONDO:MONDO:0012190,MedGen:C1836823,OMIM:609057,Orphanet:300333 6 6 1.0000 condition_record_support_limited 20 0 3 Epidermolysis_bullosa_simplex_7,_with_nephropathy_and_deafness 6 low_record_burden_interpretation_limited low_record_burden_gene CCM2 ccm2_related_disorder CCM2-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 3 CCM2-related_disorder 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAV3 mondo_mondo_0012736_medgen_c2678485_omim_611818_orphanet_101016_orphanet_768 Long QT syndrome 9 MONDO:MONDO:0012736,MedGen:C2678485,OMIM:611818,Orphanet:101016,Orphanet:768 6 6 1.0000 condition_record_support_limited 20 0 6 Long_QT_syndrome_9 26 compact_adjacent_exon_block_opportunity local_compact_architecture CAV1 mondo_mondo_0011714_medgen_c3807567_omim_606721 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome MONDO:MONDO:0011714,MedGen:C3807567,OMIM:606721 6 6 1.0000 condition_record_support_limited 20 0 3 Partial_lipodystrophy,_congenital_cataracts,_and_neurodegeneration_syndrome 12 low_record_burden_interpretation_limited low_record_burden_gene CASQ2 mondo_mondo_0017990_medgen_c5574922_omim_ps604772_orphanet_3286 Catecholaminergic polymorphic ventricular tachycardia MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286 6 6 1.0000 condition_record_support_limited 20 0 3 Catecholaminergic_polymorphic_ventricular_tachycardia 79 compact_adjacent_exon_block_opportunity local_compact_architecture CASK cask_related_disorder CASK-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 3 CASK-related_disorder 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN15 mondo_mondo_0036189_medgen_c5543355_omim_619318_orphanet_611201 Oculogastrointestinal-neurodevelopmental syndrome MONDO:MONDO:0036189,MedGen:C5543355,OMIM:619318,Orphanet:611201 6 6 1.0000 condition_record_support_limited 20 0 0 Oculogastrointestinal-neurodevelopmental_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene CALM3 mondo_mondo_0100316_medgen_c4551647_omim_192500_orphanet_101016_orphanet_768 Long QT syndrome 1 MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768 6 6 1.0000 condition_record_support_limited 20 0 3 Long_QT_syndrome_1 8 low_record_burden_interpretation_limited low_record_burden_gene CACNA2D2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 1 not_provided 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNA1I mondo_mondo_0859313_medgen_c5774252_omim_620114 Neurodevelopmental disorder with speech impairment and with or without seizures MONDO:MONDO:0859313,MedGen:C5774252,OMIM:620114 6 6 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_speech_impairment_and_with_or_without_seizures 6 low_record_burden_interpretation_limited low_record_burden_gene CACNA1F cacna1f_related_disorder CACNA1F-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 4 CACNA1F-related_disorder 189 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 6 6 1.0000 condition_record_support_limited 20 0 3 Neurodevelopmental_delay 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A mondo_mondo_0100254_medgen_cn323281 CACNA1A-related complex neurodevelopmental disorder MONDO:MONDO:0100254,MedGen:CN323281 6 6 1.0000 condition_record_support_limited 20 0 5 CACNA1A-related_complex_neurodevelopmental_disorder 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture C9 mondo_mondo_0014266_medgen_c3810042_omim_615591 Age related macular degeneration 15 MONDO:MONDO:0014266,MedGen:C3810042,OMIM:615591 6 6 1.0000 condition_record_support_limited 20 0 6 Age_related_macular_degeneration_15 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C6 c6_related_disorder C6-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 4 C6-related_disorder 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C5 medgen_c3810402_omim_615749 Eculizumab, poor response to MedGen:C3810402,OMIM:615749 6 6 1.0000 condition_record_support_limited 20 0 5 Eculizumab,_poor_response_to 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C2 mondo_mondo_0009006_medgen_c0398756_omim_217000 Complement component 2 deficiency MONDO:MONDO:0009006,MedGen:C0398756,OMIM:217000 6 6 1.0000 condition_record_support_limited 20 0 3 Complement_component_2_deficiency 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C19ORF12 mondo_mondo_0018307_medgen_c2931845_omim_ps234200_orphanet_385 Neurodegeneration with brain iron accumulation MONDO:MONDO:0018307,MedGen:C2931845,OMIM:PS234200,Orphanet:385 6 6 1.0000 condition_record_support_limited 20 0 6 Neurodegeneration_with_brain_iron_accumulation 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C14ORF39 mondo_mondo_0030938_medgen_c5543094_omim_619202 Spermatogenic failure 52 MONDO:MONDO:0030938,MedGen:C5543094,OMIM:619202 6 6 1.0000 condition_record_support_limited 20 0 4 Spermatogenic_failure_52 17 low_record_burden_interpretation_limited low_record_burden_gene BRCA2 human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Rhabdomyosarcoma Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 6 6 1.0000 condition_record_support_limited 20 0 6 Rhabdomyosarcoma 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_0042486_medgen_c1832587_omim_601228_orphanet_157794 Polyposis syndrome, hereditary mixed, 1 MONDO:MONDO:0042486,MedGen:C1832587,OMIM:601228,Orphanet:157794 6 6 1.0000 condition_record_support_limited 20 0 1 Polyposis_syndrome,_hereditary_mixed,_1 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRAF cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 6 6 1.0000 condition_record_support_limited 20 0 6 Cardiovascular_phenotype 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF braf_related_disorder BRAF-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 BRAF-related_disorder 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMPR2 bmpr2_related_disorder BMPR2-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 5 BMPR2-related_disorder 502 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMP4 condition_not_provided condition not provided .|MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 0 See_cases|not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene BFSP1 mondo_mondo_0012665_medgen_c3808107_omim_611391_orphanet_91492 Cataract 33 MONDO:MONDO:0012665,MedGen:C3808107,OMIM:611391,Orphanet:91492 6 6 1.0000 condition_record_support_limited 20 0 0 Cataract_33 7 low_record_burden_interpretation_limited low_record_burden_gene BCS1L bcs1l_related_disorder BCS1L-related disorder MedGen:CN239240 6 6 1.0000 condition_record_support_limited 20 0 4 BCS1L-related_disorder 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL11A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL10 mondo_mondo_0014491_medgen_c4015195_omim_616098 Immunodeficiency 37 MONDO:MONDO:0014491,MedGen:C4015195,OMIM:616098 6 6 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency_37 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL10 human_phenotype_ontology_hp_0033125_mondo_mondo_0018906_medgen_c0024301_orphanet_545 Follicular lymphoma Human_Phenotype_Ontology:HP:0033125,MONDO:MONDO:0018906,MedGen:C0024301,Orphanet:545 6 6 1.0000 condition_record_support_limited 20 0 0 Follicular_lymphoma 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCAT2 mondo_mondo_0100058_medgen_c5394277_omim_618850 Hypervalinemia and hyperleucine-isoleucinemia MONDO:MONDO:0100058,MedGen:C5394277,OMIM:618850 6 6 1.0000 condition_record_support_limited 20 0 2 Hypervalinemia_and_hyperleucine-isoleucinemia 8 low_record_burden_interpretation_limited low_record_burden_gene BBS5 bbs5_related_disorder BBS5-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 4 BBS5-related_disorder 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS2 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 6 6 1.0000 condition_record_support_limited 20 0 6 Retinitis_pigmentosa 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBOF1 mondo_mondo_0013579_medgen_c3279840_omim_614105_orphanet_289307 Methylmalonate semialdehyde dehydrogenase deficiency MONDO:MONDO:0013579,MedGen:C3279840,OMIM:614105,Orphanet:289307 6 6 1.0000 condition_record_support_limited 20 0 0 Methylmalonate_semialdehyde_dehydrogenase_deficiency 7 low_record_burden_interpretation_limited low_record_burden_gene BAZ2B baz2b_related_disorder BAZ2B-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 1 BAZ2B-related_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene BAIAP2 mondo_mondo_0980948_medgen_cn380824_omim_621468 Developmental and epileptic encephalopathy 120 MONDO:MONDO:0980948,MedGen:CN380824,OMIM:621468 6 6 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy_120 6 low_record_burden_interpretation_limited low_record_burden_gene AXDND1 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 6 6 1.0000 condition_record_support_limited 20 0 2 Nephrotic_syndrome 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATRX atrx_related_disorder ATRX-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 3 ATRX-related_disorder 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATP6V0C mondo_mondo_0958196_medgen_c5882674_omim_620465 Epilepsy, early-onset, 3, with or without developmental delay MONDO:MONDO:0958196,MedGen:C5882674,OMIM:620465 6 6 1.0000 condition_record_support_limited 20 0 0 Epilepsy,_early-onset,_3,_with_or_without_developmental_delay 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V0C epilepsy_early_onset_3_with_developmental_delay EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY . 6 6 1.0000 condition_record_support_limited 20 0 3 EPILEPSY,_EARLY-ONSET,_3,_WITH_DEVELOPMENTAL_DELAY 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V0A1 mondo_mondo_0859265_medgen_c5774184_omim_619971 Neurodevelopmental disorder with epilepsy and brain atrophy MONDO:MONDO:0859265,MedGen:C5774184,OMIM:619971 6 6 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_epilepsy_and_brain_atrophy 12 low_record_burden_interpretation_limited low_record_burden_gene ATP1A3 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 6 6 1.0000 condition_record_support_limited 20 0 6 Seizure 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 6 Inborn_genetic_diseases 134 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATM mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 6 6 1.0000 condition_record_support_limited 20 0 2 Colorectal_cancer 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM mondo_mondo_0018266_medgen_c1876175_orphanet_370109 Ataxia - telangiectasia variant MONDO:MONDO:0018266,MedGen:C1876175,Orphanet:370109 6 6 1.0000 condition_record_support_limited 20 0 6 Ataxia_-_telangiectasia_variant 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATL1 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 6 6 1.0000 condition_record_support_limited 20 0 5 Hereditary_spastic_paraplegia 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 mondo_mondo_0018881_mesh_d009190_medgen_c3463824_omim_614286_orphanet_52688 Myelodysplastic syndrome MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688 6 6 1.0000 condition_record_support_limited 20 0 5 Myelodysplastic_syndrome 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASPM human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 6 6 1.0000 condition_record_support_limited 20 0 4 Microcephaly 348 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARX mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARV1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 1 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene ARSA mondo_mondo_0009591_medgen_c0751276_orphanet_309263 Metachromatic leukodystrophy, juvenile type MONDO:MONDO:0009591,MedGen:C0751276,Orphanet:309263 6 6 1.0000 condition_record_support_limited 20 0 5 Metachromatic_leukodystrophy,_juvenile_type 357 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARR3 mondo_mondo_0049221_medgen_c4538795_omim_301010 Myopia 26, X-linked, female-limited MONDO:MONDO:0049221,MedGen:C4538795,OMIM:301010 6 6 1.0000 condition_record_support_limited 20 0 2 Myopia_26,_X-linked,_female-limited 10 low_record_burden_interpretation_limited low_record_burden_gene ARNT2 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene ARMC9 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 6 6 1.0000 condition_record_support_limited 20 0 6 Joubert_syndrome 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARL6 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 6 6 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AR human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Prostate cancer Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 6 6 1.0000 condition_record_support_limited 20 0 1 Prostate_cancer 365 compact_adjacent_exon_block_opportunity local_compact_architecture AR human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 6 6 1.0000 condition_record_support_limited 20 0 3 Male_infertility 365 compact_adjacent_exon_block_opportunity local_compact_architecture AR mondo_mondo_0010384_medgen_c2678098_omim_300633_orphanet_440 Hypospadias 1, X-linked MONDO:MONDO:0010384,MedGen:C2678098,OMIM:300633,Orphanet:440 6 6 1.0000 condition_record_support_limited 20 0 5 Hypospadias_1,_X-linked 365 compact_adjacent_exon_block_opportunity local_compact_architecture APOC2 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 4 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene APOB apob_related_disorder APOB-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 5 APOB-related_disorder 248 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture APC2 mondo_mondo_0014951_medgen_c4310684_omim_617169 Intellectual developmental disorder, autosomal recessive 74 MONDO:MONDO:0014951,MedGen:C4310684,OMIM:617169 6 6 1.0000 condition_record_support_limited 20 0 1 Intellectual_developmental_disorder,_autosomal_recessive_74 24 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AP5Z1 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 6 6 1.0000 condition_record_support_limited 20 0 3 Hereditary_spastic_paraplegia 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP1G1 condition_not_provided condition not provided .|MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 0 See_cases|not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANTXR2 condition_not_provided condition not provided MedGen:C3661900 6 6 1.0000 condition_record_support_limited 20 6 3 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO3 human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 6 6 1.0000 condition_record_support_limited 20 0 3 Dystonic_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene ANKRD17 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 46 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 6 6 1.0000 condition_record_support_limited 20 0 5 Rare_genetic_intellectual_disability 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 6 6 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKLE2 mondo_mondo_0014730_medgen_c4225249_omim_616681_orphanet_2512 Microcephaly 16, primary, autosomal recessive MONDO:MONDO:0014730,MedGen:C4225249,OMIM:616681,Orphanet:2512 6 6 1.0000 condition_record_support_limited 20 0 2 Microcephaly_16,_primary,_autosomal_recessive 8 low_record_burden_interpretation_limited low_record_burden_gene ANKH mondo_mondo_0007319_medgen_c0856830_omim_118600_orphanet_1416 Chondrocalcinosis 2 MONDO:MONDO:0007319,MedGen:C0856830,OMIM:118600,Orphanet:1416 6 6 1.0000 condition_record_support_limited 20 0 5 Chondrocalcinosis_2 14 low_record_burden_interpretation_limited low_record_burden_gene ANK2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 6 6 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANK2 mondo_mondo_0010958_medgen_c1970119_omim_600919_orphanet_101016_orphanet_768 Cardiac arrhythmia, ankyrin-B-related MONDO:MONDO:0010958,MedGen:C1970119,OMIM:600919,Orphanet:101016,Orphanet:768 6 6 1.0000 condition_record_support_limited 20 0 3 Cardiac_arrhythmia,_ankyrin-B-related 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AMFR mondo_mondo_0957274_medgen_c5830531_omim_620379 Spastic paraplegia 89, autosomal recessive MONDO:MONDO:0957274,MedGen:C5830531,OMIM:620379 6 6 1.0000 condition_record_support_limited 20 0 0 Spastic_paraplegia_89,_autosomal_recessive 7 low_record_burden_interpretation_limited low_record_burden_gene ALX4 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 6 6 1.0000 condition_record_support_limited 20 6 2 See_cases|not_provided 21 compact_adjacent_exon_block_opportunity local_compact_architecture ALPL mondo_mondo_0016607_medgen_c1840322_orphanet_247685 Odontohypophosphatasia MONDO:MONDO:0016607,MedGen:C1840322,Orphanet:247685 6 6 1.0000 condition_record_support_limited 20 0 6 Odontohypophosphatasia 532 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 mondo_mondo_0009439_medgen_c3888093_omim_242100_orphanet_281122_orphanet_79394 Autosomal recessive congenital ichthyosis 2 MONDO:MONDO:0009439,MedGen:C3888093,OMIM:242100,Orphanet:281122,Orphanet:79394 6 6 1.0000 condition_record_support_limited 20 0 5 Autosomal_recessive_congenital_ichthyosis_2 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALKBH8 mondo_mondo_0032789_medgen_c5193133_omim_618504 Intellectual developmental disorder, autosomal recessive 71 MONDO:MONDO:0032789,MedGen:C5193133,OMIM:618504 6 6 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder,_autosomal_recessive_71 8 low_record_burden_interpretation_limited low_record_burden_gene ALG9 mondo_mondo_0700000_medgen_cn305626 ALG9-associated autosomal dominant polycystic kidney disease MONDO:MONDO:0700000,MedGen:CN305626 6 6 1.0000 condition_record_support_limited 20 0 4 ALG9-associated_autosomal_dominant_polycystic_kidney_disease 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG2 mondo_mondo_0014543_medgen_c4015597_omim_616228_orphanet_353327_orphanet_590 Congenital myasthenic syndrome 14 MONDO:MONDO:0014543,MedGen:C4015597,OMIM:616228,Orphanet:353327,Orphanet:590 6 6 1.0000 condition_record_support_limited 20 0 3 Congenital_myasthenic_syndrome_14 11 low_record_burden_interpretation_limited low_record_burden_gene ALG13 mondo_mondo_0010472_medgen_c4317295_omim_300884_orphanet_324422 Developmental and epileptic encephalopathy, 36 MONDO:MONDO:0010472,MedGen:C4317295,OMIM:300884,Orphanet:324422 6 6 1.0000 condition_record_support_limited 20 0 2 Developmental_and_epileptic_encephalopathy,_36 11 low_record_burden_interpretation_limited low_record_burden_gene ALDOB aldob_related_disorder ALDOB-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 ALDOB-related_disorder 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH6A1 mondo_mondo_0013579_medgen_c3279840_omim_614105_orphanet_289307 Methylmalonate semialdehyde dehydrogenase deficiency MONDO:MONDO:0013579,MedGen:C3279840,OMIM:614105,Orphanet:289307 6 6 1.0000 condition_record_support_limited 20 0 0 Methylmalonate_semialdehyde_dehydrogenase_deficiency 7 low_record_burden_interpretation_limited low_record_burden_gene ALDH5A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIRE aire_related_disorder AIRE-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 AIRE-related_disorder 227 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIPL1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 6 6 1.0000 condition_record_support_limited 20 0 4 Retinitis_pigmentosa 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHI1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 6 6 1.0000 condition_record_support_limited 20 0 4 Retinitis_pigmentosa 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGXT agxt_related_disorder AGXT-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 AGXT-related_disorder 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGTR1 human_phenotype_ontology_hp_0008660_mondo_mondo_0017609_medgen_c0266313_orphanet_3033 Renal tubular dysgenesis Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033 6 6 1.0000 condition_record_support_limited 20 0 3 Renal_tubular_dysgenesis 13 low_record_burden_interpretation_limited low_record_burden_gene AGTR1 mondo_mondo_0007781_medgen_cn305331_omim_145500 Essential hypertension, genetic MONDO:MONDO:0007781,MedGen:CN305331,OMIM:145500 6 6 1.0000 condition_record_support_limited 20 0 6 Essential_hypertension,_genetic 13 low_record_burden_interpretation_limited low_record_burden_gene AGRN mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 Congenital myasthenic syndrome MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 6 6 1.0000 condition_record_support_limited 20 0 6 Congenital_myasthenic_syndrome 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AGR2 mondo_mondo_0859370_medgen_c5774306_omim_620233 Respiratory infections, recurrent, and failure to thrive with or without diarrhea MONDO:MONDO:0859370,MedGen:C5774306,OMIM:620233 6 6 1.0000 condition_record_support_limited 20 0 1 Respiratory_infections,_recurrent,_and_failure_to_thrive_with_or_without_diarrhea 8 low_record_burden_interpretation_limited low_record_burden_gene AFG2B spata5l1_associated_disorder SPATA5L1-associated disorder . 6 6 1.0000 condition_record_support_limited 20 0 3 SPATA5L1-associated_disorder 21 compact_adjacent_exon_block_opportunity local_compact_architecture ADNP adnp_related_disorder ADNP-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 5 ADNP-related_disorder 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADCY5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 57 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture ADCY3 adcy3_related_disorder ADCY3-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 1 ADCY3-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene ADARB1 mondo_mondo_0030025_medgen_c5394312_omim_618862 Neurodevelopmental disorder with hypotonia, microcephaly, and seizures MONDO:MONDO:0030025,MedGen:C5394312,OMIM:618862 6 6 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_hypotonia,_microcephaly,_and_seizures 6 low_record_burden_interpretation_limited low_record_burden_gene ADA2 mondo_mondo_0019751_medgen_c3890737_orphanet_93665 Autoinflammatory syndrome MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 6 6 1.0000 condition_record_support_limited 20 0 6 Autoinflammatory_syndrome 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADA2 ada2_related_disorder ADA2-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 ADA2-related_disorder 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADA ada_related_disorder ADA-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 6 ADA-related_disorder 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTL7A mondo_mondo_0957593_medgen_c5882755_omim_620499 Spermatogenic failure 86 MONDO:MONDO:0957593,MedGen:C5882755,OMIM:620499 6 6 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_86 7 low_record_burden_interpretation_limited low_record_burden_gene ACTL6B mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 6 6 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTG2 mondo_mondo_0017574_medgen_c0238062_orphanet_2978 Chronic intestinal pseudoobstruction MONDO:MONDO:0017574,MedGen:C0238062,Orphanet:2978 6 6 1.0000 condition_record_support_limited 20 0 4 Chronic_intestinal_pseudoobstruction 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB mondo_mondo_0011823_medgen_c5848323_omim_607371_orphanet_79107 Developmental malformations-deafness-dystonia syndrome MONDO:MONDO:0011823,MedGen:C5848323,OMIM:607371,Orphanet:79107 6 6 1.0000 condition_record_support_limited 20 0 5 Developmental_malformations-deafness-dystonia_syndrome 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB actb_related_bafopathy ACTB-related BAFopathy . 6 6 1.0000 condition_record_support_limited 20 0 6 ACTB-related_BAFopathy 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB mondo_mondo_0100433_medgen_c5882677_omim_620475_orphanet_674653 ACTB-associated syndromic thrombocytopenia MONDO:MONDO:0100433,MedGen:C5882677,OMIM:620475,Orphanet:674653 6 6 1.0000 condition_record_support_limited 20 0 2 ACTB-associated_syndromic_thrombocytopenia 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA2 mondo_mondo_0013542_medgen_c3279690_omim_614042_orphanet_2573 Moyamoya disease 5 MONDO:MONDO:0013542,MedGen:C3279690,OMIM:614042,Orphanet:2573 6 6 1.0000 condition_record_support_limited 20 0 6 Moyamoya_disease_5 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 acta1_related_disorder ACTA1-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 4 ACTA1-related_disorder 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACBD6 mondo_mondo_0009880_medgen_c2678408_omim_262700_orphanet_85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome MONDO:MONDO:0009880,MedGen:C2678408,OMIM:262700,Orphanet:85442 6 6 1.0000 condition_record_support_limited 20 0 0 Short_stature-pituitary_and_cerebellar_defects-small_sella_turcica_syndrome 15 low_record_burden_interpretation_limited low_record_burden_gene ABHD16A mondo_mondo_0030673_medgen_c5676910_omim_619735_orphanet_631085 Spastic paraplegia 86, autosomal recessive MONDO:MONDO:0030673,MedGen:C5676910,OMIM:619735,Orphanet:631085 6 6 1.0000 condition_record_support_limited 20 0 2 Spastic_paraplegia_86,_autosomal_recessive 7 low_record_burden_interpretation_limited low_record_burden_gene ABCG8 mondo_mondo_0008863_medgen_c0342907_omim_ps210250_orphanet_2882 Sitosterolemia MONDO:MONDO:0008863,MedGen:C0342907,OMIM:PS210250,Orphanet:2882 6 6 1.0000 condition_record_support_limited 20 0 5 Sitosterolemia 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 6 6 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB6 mondo_mondo_0014169_medgen_c3809394_omim_615402 Dyschromatosis universalis hereditaria 3 MONDO:MONDO:0014169,MedGen:C3809394,OMIM:615402 6 6 1.0000 condition_record_support_limited 20 0 1 Dyschromatosis_universalis_hereditaria_3 10 low_record_burden_interpretation_limited low_record_burden_gene ABCB4 mondo_mondo_0008892_medgen_c4551898_omim_211600_orphanet_79306 Progressive familial intrahepatic cholestasis type 1 MONDO:MONDO:0008892,MedGen:C4551898,OMIM:211600,Orphanet:79306 6 6 1.0000 condition_record_support_limited 20 0 4 Progressive_familial_intrahepatic_cholestasis_type_1 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AARS2 aars2_related_disorder AARS2-related disorder . 6 6 1.0000 condition_record_support_limited 20 0 2 AARS2-related_disorder 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZSCAN10 mondo_mondo_0975705_medgen_c5935642_omim_620910 Otofacial neurodevelopmental syndrome MONDO:MONDO:0975705,MedGen:C5935642,OMIM:620910 5 5 1.0000 condition_record_support_limited 20 0 2 Otofacial_neurodevelopmental_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene ZMYND10 zmynd10_related_disorder ZMYND10-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 ZMYND10-related_disorder 35 compact_adjacent_exon_block_opportunity local_compact_architecture ZMYM3 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene ZMYM2 zmym2_related_disorder ZMYM2-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 2 ZMYM2-related_disorder 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZMIZ1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZIC1 mondo_mondo_0032892_medgen_c5231485_omim_618736 Structural brain anomalies with impaired intellectual development and craniosynostosis MONDO:MONDO:0032892,MedGen:C5231485,OMIM:618736 5 5 1.0000 condition_record_support_limited 20 0 2 Structural_brain_anomalies_with_impaired_intellectual_development_and_craniosynostosis 13 low_record_burden_interpretation_limited low_record_burden_gene ZEB2 zeb2_related_disorder ZEB2-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 2 ZEB2-related_disorder 389 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB7A condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YY1AP1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene YIPF5 mondo_mondo_0025690_medgen_c5543294_omim_619278 Microcephaly, epilepsy, and diabetes syndrome 2 MONDO:MONDO:0025690,MedGen:C5543294,OMIM:619278 5 5 1.0000 condition_record_support_limited 20 0 0 Microcephaly,_epilepsy,_and_diabetes_syndrome_2 5 low_record_burden_interpretation_limited low_record_burden_gene XPR1 mondo_mondo_0014628_medgen_c4225335_omim_616413_orphanet_1980 Basal ganglia calcification, idiopathic, 6 MONDO:MONDO:0014628,MedGen:C4225335,OMIM:616413,Orphanet:1980 5 5 1.0000 condition_record_support_limited 20 0 0 Basal_ganglia_calcification,_idiopathic,_6 7 low_record_burden_interpretation_limited low_record_burden_gene WWOX wwox_related_disorder WWOX-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 WWOX-related_disorder 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WNT7B mondo_mondo_0011010_medgen_c1832661_omim_601186_orphanet_2470 Matthew-Wood syndrome MONDO:MONDO:0011010,MedGen:C1832661,OMIM:601186,Orphanet:2470 5 5 1.0000 condition_record_support_limited 20 0 1 Matthew-Wood_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene WNK4 mondo_mondo_0013777_medgen_c1840390_omim_614491_orphanet_757_orphanet_88939 Pseudohypoaldosteronism type 2B MONDO:MONDO:0013777,MedGen:C1840390,OMIM:614491,Orphanet:757,Orphanet:88939 5 5 1.0000 condition_record_support_limited 20 0 1 Pseudohypoaldosteronism_type_2B 6 low_record_burden_interpretation_limited low_record_burden_gene WNK3 mondo_mondo_0010667_medgen_c1839730_omim_309610_orphanet_2958 Prieto syndrome MONDO:MONDO:0010667,MedGen:C1839730,OMIM:309610,Orphanet:2958 5 5 1.0000 condition_record_support_limited 20 0 4 Prieto_syndrome 10 low_record_burden_interpretation_limited low_record_burden_gene WNK1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 71 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture WHRN mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 Usher syndrome MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 5 5 1.0000 condition_record_support_limited 20 0 2 Usher_syndrome 55 compact_adjacent_exon_block_opportunity local_compact_architecture WFS1 monogenic_hearing_loss Monogenic hearing loss . 5 5 1.0000 condition_record_support_limited 20 0 4 Monogenic_hearing_loss 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR19 wdr19_related_disorder WDR19-related disorder MedGen:CN380161 5 5 1.0000 condition_record_support_limited 20 0 5 WDR19-related_disorder 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR11 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene WDR11 mondo_mondo_0859373_medgen_c5830269_omim_620237 Intellectual developmental disorder, autosomal recessive 78 MONDO:MONDO:0859373,MedGen:C5830269,OMIM:620237 5 5 1.0000 condition_record_support_limited 20 0 4 Intellectual_developmental_disorder,_autosomal_recessive_78 16 low_record_burden_interpretation_limited low_record_burden_gene WDR11 mondo_mondo_0013926_medgen_c3540450_omim_614858_orphanet_478 Hypogonadotropic hypogonadism 14 with or without anosmia MONDO:MONDO:0013926,MedGen:C3540450,OMIM:614858,Orphanet:478 5 5 1.0000 condition_record_support_limited 20 0 0 Hypogonadotropic_hypogonadism_14_with_or_without_anosmia 16 low_record_burden_interpretation_limited low_record_burden_gene WDPCP wdpcp_related_disorder WDPCP-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 WDPCP-related_disorder 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDFY3 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 5 5 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 84 large_gene_or_donor_burden_stress_case donor_burden_stress WDFY3 autosomal_dominant_wdfy3_related_disorders Autosomal dominant WDFY3-related disorders . 5 5 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_WDFY3-related_disorders 84 large_gene_or_donor_burden_stress_case donor_burden_stress WBP11 wbp11_spliceosomopathy WBP11 spliceosomopathy . 5 5 1.0000 condition_record_support_limited 20 0 4 WBP11_spliceosomopathy 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VWF mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 454 large_gene_or_donor_burden_stress_case donor_burden_stress VPS53 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene VPS4A mondo_mondo_0035819_medgen_c5543287_omim_619273_orphanet_603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome MONDO:MONDO:0035819,MedGen:C5543287,OMIM:619273,Orphanet:603448 5 5 1.0000 condition_record_support_limited 20 0 5 Cerebellar_hypoplasia-intellectual_disability-congenital_microcephaly-dystonia-anemia-growth_retardation_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene VPS13C mondo_mondo_0005180_mesh_d010300_medgen_c0030567_omim_ps168600 Parkinson disease MONDO:MONDO:0005180,MeSH:D010300,MedGen:C0030567,OMIM:PS168600 5 5 1.0000 condition_record_support_limited 20 0 4 Parkinson_disease 88 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 5 5 1.0000 condition_record_support_limited 20 0 4 Microcephaly 996 large_gene_or_donor_burden_stress_case donor_burden_stress VMA12 mondo_mondo_0014790_medgen_c4225190_omim_616829_orphanet_466703 TMEM199-CDG MONDO:MONDO:0014790,MedGen:C4225190,OMIM:616829,Orphanet:466703 5 5 1.0000 condition_record_support_limited 20 0 2 TMEM199-CDG 7 low_record_burden_interpretation_limited low_record_burden_gene VCP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VCP mondo_mondo_0014735_medgen_c5569026_omim_616687_orphanet_435387 Charcot-Marie-Tooth disease type 2Y MONDO:MONDO:0014735,MedGen:C5569026,OMIM:616687,Orphanet:435387 5 5 1.0000 condition_record_support_limited 20 0 5 Charcot-Marie-Tooth_disease_type_2Y 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UVSSA mondo_mondo_0013834_medgen_c3553328_omim_614640_orphanet_178338 UV-sensitive syndrome 3 MONDO:MONDO:0013834,MedGen:C3553328,OMIM:614640,Orphanet:178338 5 5 1.0000 condition_record_support_limited 20 0 0 UV-sensitive_syndrome_3 8 low_record_burden_interpretation_limited low_record_burden_gene UTP14C mondo_mondo_0013349_medgen_c3150913_omim_613661_orphanet_280071 ALG11-congenital disorder of glycosylation MONDO:MONDO:0013349,MedGen:C3150913,OMIM:613661,Orphanet:280071 5 5 1.0000 condition_record_support_limited 20 0 1 ALG11-congenital_disorder_of_glycosylation 7 low_record_burden_interpretation_limited low_record_burden_gene USH2A medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 5 5 1.0000 condition_record_support_limited 20 0 3 Autosomal_recessive_retinitis_pigmentosa 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH1G mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 Usher syndrome MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 5 5 1.0000 condition_record_support_limited 20 0 1 Usher_syndrome 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UROC1 human_phenotype_ontology_hp_0012237_mondo_mondo_0010167_medgen_c0268514_omim_276880_orphanet_210128 Urocanate hydratase deficiency Human_Phenotype_Ontology:HP:0012237,MONDO:MONDO:0010167,MedGen:C0268514,OMIM:276880,Orphanet:210128 5 5 1.0000 condition_record_support_limited 20 0 0 Urocanate_hydratase_deficiency 5 low_record_burden_interpretation_limited low_record_burden_gene UNC79 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 0 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene UCHL1 mondo_mondo_0014209_medgen_c3809665_omim_615491_orphanet_352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome MONDO:MONDO:0014209,MedGen:C3809665,OMIM:615491,Orphanet:352654 5 5 1.0000 condition_record_support_limited 20 0 2 Early-onset_progressive_neurodegeneration-blindness-ataxia-spasticity_syndrome 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBR5 mondo_mondo_0980700_medgen_cn380016_omim_621372 Neurodevelopmental disorder with speech delay and behavioral abnormalities MONDO:MONDO:0980700,MedGen:CN380016,OMIM:621372 5 5 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_speech_delay_and_behavioral_abnormalities 6 low_record_burden_interpretation_limited low_record_burden_gene UBQLN2 mondo_mondo_0010459_medgen_c3275459_omim_300857_orphanet_803 Amyotrophic lateral sclerosis type 15 MONDO:MONDO:0010459,MedGen:C3275459,OMIM:300857,Orphanet:803 5 5 1.0000 condition_record_support_limited 20 0 1 Amyotrophic_lateral_sclerosis_type_15 7 low_record_burden_interpretation_limited low_record_burden_gene UBOX5 mondo_mondo_0980755_medgen_cn380446_omim_621431 Mitochondrial complex IV deficiency, nuclear type 24 MONDO:MONDO:0980755,MedGen:CN380446,OMIM:621431 5 5 1.0000 condition_record_support_limited 20 0 5 Mitochondrial_complex_IV_deficiency,_nuclear_type_24 5 low_record_burden_interpretation_limited low_record_burden_gene UBOX5 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 5 5 1.0000 condition_record_support_limited 20 0 5 Leigh_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene UBE3A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 274 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TYROBP mondo_mondo_0020749_medgen_c4721893_omim_221770_orphanet_2770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770,Orphanet:2770 5 5 1.0000 condition_record_support_limited 20 0 1 Polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy_1 7 low_record_burden_interpretation_limited low_record_burden_gene TYMS mondo_mondo_0015780_medgen_c0265965_omim_ps127550_orphanet_1775 Dyskeratosis congenita MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775 5 5 1.0000 condition_record_support_limited 20 0 3 Dyskeratosis_congenita 5 low_record_burden_interpretation_limited low_record_burden_gene TWIST1 mondo_mondo_0060592_medgen_c4540299_omim_617746 Sweeney-Cox syndrome MONDO:MONDO:0060592,MedGen:C4540299,OMIM:617746 5 5 1.0000 condition_record_support_limited 20 0 3 Sweeney-Cox_syndrome 96 compact_adjacent_exon_block_opportunity local_compact_architecture TUBB4B condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene TUBB1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene TTPA medgen_c4016662 ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY MedGen:C4016662 5 5 1.0000 condition_record_support_limited 20 0 5 ATAXIA,_FRIEDREICH-LIKE,_WITH_ISOLATED_VITAMIN_E_DEFICIENCY 91 compact_adjacent_exon_block_opportunity local_compact_architecture TTN human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 5 5 1.0000 condition_record_support_limited 20 0 3 Myopathy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTLL5 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 5 5 1.0000 condition_record_support_limited 20 0 3 Cone-rod_dystrophy 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC8 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC8 ttc8_related_disorder TTC8-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 TTC8-related_disorder 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC8 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 1.0000 condition_record_support_limited 20 0 5 Retinal_dystrophy 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTBK2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene TSR2 mondo_mondo_0010589_medgen_c0175701_omim_305400_orphanet_915 Aarskog syndrome MONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400,Orphanet:915 5 5 1.0000 condition_record_support_limited 20 0 1 Aarskog_syndrome 10 low_record_burden_interpretation_limited low_record_burden_gene TSPEAR tspear_related_disorder TSPEAR-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 3 TSPEAR-related_disorder 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSPAN7 mondo_mondo_0010266_medgen_c1846174_omim_300210_orphanet_777 Intellectual disability, X-linked 58 MONDO:MONDO:0010266,MedGen:C1846174,OMIM:300210,Orphanet:777 5 5 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_X-linked_58 5 low_record_burden_interpretation_limited low_record_burden_gene TSHR medgen_c1863960 Thyroid adenoma, hyperfunctioning, somatic MedGen:C1863960 5 5 1.0000 condition_record_support_limited 20 0 2 Thyroid_adenoma,_hyperfunctioning,_somatic 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 5 5 1.0000 condition_record_support_limited 20 0 5 Charcot-Marie-Tooth_disease 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV3 mondo_mondo_0100296_medgen_c5542829_omim_614594_orphanet_659 Olmsted syndrome 1 MONDO:MONDO:0100296,MedGen:C5542829,OMIM:614594,Orphanet:659 5 5 1.0000 condition_record_support_limited 20 0 5 Olmsted_syndrome_1 10 low_record_burden_interpretation_limited low_record_burden_gene TRIOBP medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 5 5 1.0000 condition_record_support_limited 20 0 4 Rare_genetic_deafness 100 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRIM32 trim32_related_disorder TRIM32-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 TRIM32-related_disorder 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIM2 mondo_mondo_0014208_medgen_c3809655_omim_615490_orphanet_397968 Charcot-Marie-Tooth disease type 2R MONDO:MONDO:0014208,MedGen:C3809655,OMIM:615490,Orphanet:397968 5 5 1.0000 condition_record_support_limited 20 0 0 Charcot-Marie-Tooth_disease_type_2R 6 low_record_burden_interpretation_limited low_record_burden_gene TRHR mondo_mondo_0032819_medgen_c1861106_omim_618573_orphanet_99832 Hypothyroidism, congenital, nongoitrous, 7 MONDO:MONDO:0032819,MedGen:C1861106,OMIM:618573,Orphanet:99832 5 5 1.0000 condition_record_support_limited 20 0 0 Hypothyroidism,_congenital,_nongoitrous,_7 5 low_record_burden_interpretation_limited low_record_burden_gene TRAPPC9 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRA2B mondo_mondo_0980751_medgen_cn380420_omim_621421 Ramond-Elliott neurodevelopmental syndrome MONDO:MONDO:0980751,MedGen:CN380420,OMIM:621421 5 5 1.0000 condition_record_support_limited 20 0 1 Ramond-Elliott_neurodevelopmental_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene TPRN medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 5 5 1.0000 condition_record_support_limited 20 0 2 Rare_genetic_deafness 33 compact_adjacent_exon_block_opportunity local_compact_architecture TPP2 mondo_mondo_0030971_medgen_c5543159_omim_619220 Immunodeficiency 78 with autoimmunity and developmental delay MONDO:MONDO:0030971,MedGen:C5543159,OMIM:619220 5 5 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency_78_with_autoimmunity_and_developmental_delay 19 low_record_burden_interpretation_limited low_record_burden_gene TPO tpo_related_disorder TPO-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 3 TPO-related_disorder 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM1 efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 5 5 1.0000 condition_record_support_limited 20 0 0 Primary_dilated_cardiomyopathy 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM1 efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 5 5 1.0000 condition_record_support_limited 20 0 5 Primary_dilated_cardiomyopathy 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP73 mondo_mondo_0030346_medgen_c5561951_omim_619466 Ciliary dyskinesia, primary, 47, and lissencephaly MONDO:MONDO:0030346,MedGen:C5561951,OMIM:619466 5 5 1.0000 condition_record_support_limited 20 0 1 Ciliary_dyskinesia,_primary,_47,_and_lissencephaly 5 low_record_burden_interpretation_limited low_record_burden_gene TP53BP1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene TP53 human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Prostate cancer Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 5 5 1.0000 condition_record_support_limited 20 0 5 Prostate_cancer 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 human_phenotype_ontology_hp_0030078_mondo_mondo_0005061_mesh_d000077192_medgen_c0152013 Lung adenocarcinoma Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013 5 5 1.0000 condition_record_support_limited 20 0 5 Lung_adenocarcinoma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 mondo_mondo_0800290_medgen_c2675080 Li-fraumeni-like syndrome MONDO:MONDO:0800290,MedGen:C2675080 5 5 1.0000 condition_record_support_limited 20 0 5 Li-fraumeni-like_syndrome 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 5 5 1.0000 condition_record_support_limited 20 0 5 Breast_carcinoma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TOR1A mondo_mondo_0007492_medgen_c1851945_omim_128100_orphanet_256 Early-onset generalized limb-onset dystonia MONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100,Orphanet:256 5 5 1.0000 condition_record_support_limited 20 0 2 Early-onset_generalized_limb-onset_dystonia 15 low_record_burden_interpretation_limited low_record_burden_gene TOPORS human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 5 5 1.0000 condition_record_support_limited 20 0 3 Retinitis_pigmentosa 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TOP3A mondo_mondo_0020845_medgen_c4748184_omim_618098 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 MONDO:MONDO:0020845,MedGen:C4748184,OMIM:618098 5 5 1.0000 condition_record_support_limited 20 0 3 Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_5 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TOMT condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 24 compact_adjacent_exon_block_opportunity local_compact_architecture TNNT1 mondo_mondo_0957281_medgen_c5830545_omim_620386 Nemaline myopathy 5B, autosomal recessive, childhood-onset MONDO:MONDO:0957281,MedGen:C5830545,OMIM:620386 5 5 1.0000 condition_record_support_limited 20 0 2 Nemaline_myopathy_5B,_autosomal_recessive,_childhood-onset 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNI3 tnni3_related_disorder TNNI3-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 TNNI3-related_disorder 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNFSF11 mondo_mondo_0009816_medgen_c1850126_omim_259710_orphanet_667 Autosomal recessive osteopetrosis 2 MONDO:MONDO:0009816,MedGen:C1850126,OMIM:259710,Orphanet:667 5 5 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_osteopetrosis_2 5 low_record_burden_interpretation_limited low_record_burden_gene TNFRSF13B tnfrsf13b_related_disorder TNFRSF13B-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 3 TNFRSF13B-related_disorder 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNFRSF11B condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 0 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene TMPRSS6 tmprss6_related_disorder TMPRSS6-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 2 TMPRSS6-related_disorder 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMPPE condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene TMEM94 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM63B condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene TMEM38B mondo_mondo_0014029_medgen_c3554428_omim_615066_orphanet_666 Osteogenesis imperfecta type 14 MONDO:MONDO:0014029,MedGen:C3554428,OMIM:615066,Orphanet:666 5 5 1.0000 condition_record_support_limited 20 0 1 Osteogenesis_imperfecta_type_14 11 low_record_burden_interpretation_limited low_record_burden_gene TMEM237 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM222 mondo_mondo_0859176_medgen_c5561954_omim_619470 Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities MONDO:MONDO:0859176,MedGen:C5561954,OMIM:619470 5 5 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_motor_and_speech_delay_and_behavioral_abnormalities 5 low_record_burden_interpretation_limited low_record_burden_gene TMEM107 mondo_mondo_0033044_medgen_c4539714_omim_617562 Meckel syndrome 13 MONDO:MONDO:0033044,MedGen:C4539714,OMIM:617562 5 5 1.0000 condition_record_support_limited 20 0 2 Meckel_syndrome_13 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMC6 mondo_mondo_0100045_medgen_c4722564_omim_226400_orphanet_302 Epidermodysplasia verruciformis, susceptibility to, 1 MONDO:MONDO:0100045,MedGen:C4722564,OMIM:226400,Orphanet:302 5 5 1.0000 condition_record_support_limited 20 0 3 Epidermodysplasia_verruciformis,_susceptibility_to,_1 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TLR8 mondo_mondo_0024777_medgen_c5676883_omim_301078_orphanet_675628 Immunodeficiency 98 with autoinflammation, X-linked MONDO:MONDO:0024777,MedGen:C5676883,OMIM:301078,Orphanet:675628 5 5 1.0000 condition_record_support_limited 20 0 3 Immunodeficiency_98_with_autoinflammation,_X-linked 5 low_record_burden_interpretation_limited low_record_burden_gene TLE6 medgen_c4225197_omim_616814 Preimplantation embryonic lethality 1 MedGen:C4225197,OMIM:616814 5 5 1.0000 condition_record_support_limited 20 0 1 Preimplantation_embryonic_lethality_1 7 low_record_burden_interpretation_limited low_record_burden_gene TKT mondo_mondo_0014881_medgen_c5700245_omim_617044_orphanet_488618 Transketolase deficiency MONDO:MONDO:0014881,MedGen:C5700245,OMIM:617044,Orphanet:488618 5 5 1.0000 condition_record_support_limited 20 0 1 Transketolase_deficiency 5 low_record_burden_interpretation_limited low_record_burden_gene TIMP3 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene TIAM1 mondo_mondo_0859256_medgen_c5676998_omim_619908 Neurodevelopmental disorder with language delay and seizures MONDO:MONDO:0859256,MedGen:C5676998,OMIM:619908 5 5 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_language_delay_and_seizures 5 low_record_burden_interpretation_limited low_record_burden_gene THUMPD1 mondo_mondo_0859272_medgen_c5774194_omim_619989 Neurodevelopmental disorder with speech delay and variable ocular anomalies MONDO:MONDO:0859272,MedGen:C5774194,OMIM:619989 5 5 1.0000 condition_record_support_limited 20 0 4 Neurodevelopmental_disorder_with_speech_delay_and_variable_ocular_anomalies 8 low_record_burden_interpretation_limited low_record_burden_gene THRB mondo_mondo_0010131_medgen_c3489796_omim_274300 Thyroid hormone resistance, generalized, autosomal recessive MONDO:MONDO:0010131,MedGen:C3489796,OMIM:274300 5 5 1.0000 condition_record_support_limited 20 0 5 Thyroid_hormone_resistance,_generalized,_autosomal_recessive 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture THRB human_phenotype_ontology_hp_0002930_human_phenotype_ontology_hp_0008215_human_phenotype_ontology_hp_0008243_human_phenotype_ontology_hp_0008262_mondo_mondo_0009043_medgen_c4722330_orphanet_596426 Generalized resistance to thyroid hormone Human_Phenotype_Ontology:HP:0002930,Human_Phenotype_Ontology:HP:0008215,Human_Phenotype_Ontology:HP:0008243,Human_Phenotype_Ontology:HP:0008262,MONDO:MONDO:0009043,MedGen:C4722330,Orphanet:596426 5 5 1.0000 condition_record_support_limited 20 0 0 Generalized_resistance_to_thyroid_hormone 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture THPO mondo_mondo_0957575_medgen_c5882679_omim_620481 Amegakaryocytic thrombocytopenia, congenital, 2 MONDO:MONDO:0957575,MedGen:C5882679,OMIM:620481 5 5 1.0000 condition_record_support_limited 20 0 4 Amegakaryocytic_thrombocytopenia,_congenital,_2 17 low_record_burden_interpretation_limited low_record_burden_gene TGM1 human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Abnormality of the skin Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 5 5 1.0000 condition_record_support_limited 20 0 5 Abnormality_of_the_skin 297 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGIF1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene TGFB3 mondo_mondo_0007152_medgen_c1862511_omim_107970_orphanet_3403 Arrhythmogenic right ventricular dysplasia 1 MONDO:MONDO:0007152,MedGen:C1862511,OMIM:107970,Orphanet:3403 5 5 1.0000 condition_record_support_limited 20 0 4 Arrhythmogenic_right_ventricular_dysplasia_1 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TET2 mondo_mondo_0030858_medgen_c5436860_omim_619126_orphanet_664729 Immunodeficiency 75 MONDO:MONDO:0030858,MedGen:C5436860,OMIM:619126,Orphanet:664729 5 5 1.0000 condition_record_support_limited 20 0 2 Immunodeficiency_75 178 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TERT mondo_mondo_0100137_medgen_c4727832 Telomere syndrome MONDO:MONDO:0100137,MedGen:C4727832 5 5 1.0000 condition_record_support_limited 20 0 3 Telomere_syndrome 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TECTA tecta_related_disorder TECTA-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 1 TECTA-related_disorder 123 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TECTA mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 5 5 1.0000 condition_record_support_limited 20 0 5 Hearing_loss,_autosomal_recessive 123 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TDP2 mondo_mondo_0014846_medgen_c4750914_omim_616949_orphanet_404493 Spinocerebellar ataxia, autosomal recessive 23 MONDO:MONDO:0014846,MedGen:C4750914,OMIM:616949,Orphanet:404493 5 5 1.0000 condition_record_support_limited 20 0 0 Spinocerebellar_ataxia,_autosomal_recessive_23 13 low_record_burden_interpretation_limited low_record_burden_gene TCTN2 mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 5 5 1.0000 condition_record_support_limited 20 0 5 Joubert_syndrome_and_related_disorders 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF12 tcf12_related_disorder TCF12-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 2 TCF12-related_disorder 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF12 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF12 hypogonadotropic_hypogonadism_26_with_anosmia HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA . 5 5 1.0000 condition_record_support_limited 20 0 1 HYPOGONADOTROPIC_HYPOGONADISM_26_WITH_ANOSMIA 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCEAL1 condition_not_provided condition not provided . 5 5 1.0000 condition_record_support_limited 20 5 5 See_cases 12 low_record_burden_interpretation_limited low_record_burden_gene TBX4 medgen_c3697119_orphanet_275803 Pulmonary arterial hypertension associated with congenital heart disease MedGen:C3697119,Orphanet:275803 5 5 1.0000 condition_record_support_limited 20 0 4 Pulmonary_arterial_hypertension_associated_with_congenital_heart_disease 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX18 mondo_mondo_0027676_medgen_c5574705_omim_143400_orphanet_2190 Congenital anomalies of kidney and urinary tract 2 MONDO:MONDO:0027676,MedGen:C5574705,OMIM:143400,Orphanet:2190 5 5 1.0000 condition_record_support_limited 20 0 1 Congenital_anomalies_of_kidney_and_urinary_tract_2 6 low_record_burden_interpretation_limited low_record_burden_gene TBL1XR1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBK1 tbk1_related_disorder TBK1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 TBK1-related_disorder 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCK tbck_related_disorder TBCK-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 3 TBCK-related_disorder 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D7 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene TBC1D20 mondo_mondo_0014296_medgen_c3810265_omim_615663_orphanet_2510 Warburg micro syndrome 4 MONDO:MONDO:0014296,MedGen:C3810265,OMIM:615663,Orphanet:2510 5 5 1.0000 condition_record_support_limited 20 0 0 Warburg_micro_syndrome_4 6 low_record_burden_interpretation_limited low_record_burden_gene TAPT1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene TAOK1 taok1_related_disorder TAOK1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 2 TAOK1-related_disorder 72 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TANC2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TANC2 intellectual_developmental_disorder_with_autistic_features_and_language_delay_without_seizures INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES . 5 5 1.0000 condition_record_support_limited 20 0 5 INTELLECTUAL_DEVELOPMENTAL_DISORDER_WITH_AUTISTIC_FEATURES_AND_LANGUAGE_DELAY_WITHOUT_SEIZURES 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TAMM41 mondo_mondo_0859323_medgen_c5774261_omim_620139 Combined oxidative phosphorylation deficiency 56 MONDO:MONDO:0859323,MedGen:C5774261,OMIM:620139 5 5 1.0000 condition_record_support_limited 20 0 2 Combined_oxidative_phosphorylation_deficiency_56 5 low_record_burden_interpretation_limited low_record_burden_gene TAF8 mondo_mondo_0859266_medgen_c5774185_omim_619972 Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy MONDO:MONDO:0859266,MedGen:C5774185,OMIM:619972 5 5 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_severe_motor_impairment,_absent_language,_cerebral_hypomyelination,_and_brain_atrophy 8 low_record_burden_interpretation_limited low_record_burden_gene SZT2 szt2_related_disorder SZT2-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 SZT2-related_disorder 188 large_gene_or_donor_burden_stress_case donor_burden_stress SYT2 mondo_mondo_0030341_medgen_c5561947_omim_619461 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MONDO:MONDO:0030341,MedGen:C5561947,OMIM:619461 5 5 1.0000 condition_record_support_limited 20 0 0 Myasthenic_syndrome,_congenital,_7B,_presynaptic,_autosomal_recessive 17 low_record_burden_interpretation_limited low_record_burden_gene SYT1 syt1_associated_neurodevelopmental_disorder SYT1-associated neurodevelopmental disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 SYT1-associated_neurodevelopmental_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 5 5 1.0000 condition_record_support_limited 20 0 4 Seizure 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNE4 mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 5 5 1.0000 condition_record_support_limited 20 0 4 Nonsyndromic_genetic_hearing_loss 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYN3 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene SYCP2 mondo_mondo_0009776_medgen_c0403810_omim_258150 Oligosynaptic infertility MONDO:MONDO:0009776,MedGen:C0403810,OMIM:258150 5 5 1.0000 condition_record_support_limited 20 0 3 Oligosynaptic_infertility 6 low_record_burden_interpretation_limited low_record_burden_gene SURF1 surf1_related_disorder SURF1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 SURF1-related_disorder 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STT3A mondo_mondo_0859223_medgen_c5562068_omim_619714 Congenital disorder of glycosylation, type Iw, autosomal dominant MONDO:MONDO:0859223,MedGen:C5562068,OMIM:619714 5 5 1.0000 condition_record_support_limited 20 0 2 Congenital_disorder_of_glycosylation,_type_Iw,_autosomal_dominant 6 low_record_burden_interpretation_limited low_record_burden_gene STK11 mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 Carcinoma of pancreas MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 5 5 1.0000 condition_record_support_limited 20 0 3 Carcinoma_of_pancreas 395 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control STIM1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 5 not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STEEP1 mondo_mondo_0049222_medgen_c4692652_omim_301013 Intellectual disability, X-linked 107 MONDO:MONDO:0049222,MedGen:C4692652,OMIM:301013 5 5 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_X-linked_107 5 low_record_burden_interpretation_limited low_record_burden_gene STAT1 stat1_related_disorder STAT1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 3 STAT1-related_disorder 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAG3 mondo_mondo_0030507_medgen_c5562048_omim_619672 Spermatogenic failure 61 MONDO:MONDO:0030507,MedGen:C5562048,OMIM:619672 5 5 1.0000 condition_record_support_limited 20 0 3 Spermatogenic_failure_61 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAG1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ST3GAL3 mondo_mondo_0012612_medgen_c1970200_omim_611090_orphanet_88616 Intellectual disability, autosomal recessive 12 MONDO:MONDO:0012612,MedGen:C1970200,OMIM:611090,Orphanet:88616 5 5 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability,_autosomal_recessive_12 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SRD5A2 srd5a2_related_disorder SRD5A2-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 SRD5A2-related_disorder 89 compact_adjacent_exon_block_opportunity local_compact_architecture SQSTM1 mondo_mondo_0008176_medgen_c4085252_omim_167250 Paget disease of bone 3 MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250 5 5 1.0000 condition_record_support_limited 20 0 2 Paget_disease_of_bone_3 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPTBN1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 59 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPRED1 mondo_mondo_0018975_medgen_c0027831_omim_162200_orphanet_636 Neurofibromatosis, type 1 MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200,Orphanet:636 5 5 1.0000 condition_record_support_limited 20 0 3 Neurofibromatosis,_type_1 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPOP condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene SPIDR mondo_mondo_0030506_medgen_c5562046_omim_619665 Ovarian dysgenesis 9 MONDO:MONDO:0030506,MedGen:C5562046,OMIM:619665 5 5 1.0000 condition_record_support_limited 20 0 0 Ovarian_dysgenesis_9 7 low_record_burden_interpretation_limited low_record_burden_gene SPG21 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 5 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene SPG11 human_phenotype_ontology_hp_0011442_medgen_c4023354 Abnormal central motor function Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 5 5 1.0000 condition_record_support_limited 20 0 2 Abnormal_central_motor_function 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPATA7 mondo_mondo_0800328_medgen_c5676889 Retinitis pigmentosa 94, variable age at onset MONDO:MONDO:0800328,MedGen:C5676889 5 5 1.0000 condition_record_support_limited 20 0 5 Retinitis_pigmentosa_94,_variable_age_at_onset 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPAG1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX4 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 25 single_exon_hotspot_opportunity local_compact_architecture SOST mondo_mondo_0010016_medgen_c4551483_omim_269500_orphanet_3152 Sclerosteosis 1 MONDO:MONDO:0010016,MedGen:C4551483,OMIM:269500,Orphanet:3152 5 5 1.0000 condition_record_support_limited 20 0 1 Sclerosteosis_1 7 low_record_burden_interpretation_limited low_record_burden_gene SOS2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 5 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene SOS2 mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 Noonan syndrome MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 5 5 1.0000 condition_record_support_limited 20 0 5 Noonan_syndrome 12 low_record_burden_interpretation_limited low_record_burden_gene SOS1 sos1_related_disorder SOS1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 SOS1-related_disorder 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SON human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 5 5 1.0000 condition_record_support_limited 20 0 5 Global_developmental_delay 148 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SON human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 5 5 1.0000 condition_record_support_limited 20 0 5 Failure_to_thrive 148 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SOD1 mondo_mondo_0020128_medgen_c0085084_orphanet_98503 Motor neuron disease MONDO:MONDO:0020128,MedGen:C0085084,Orphanet:98503 5 5 1.0000 condition_record_support_limited 20 0 4 Motor_neuron_disease 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNCA mondo_mondo_0008200_medgen_c1868595_omim_168601 Autosomal dominant Parkinson disease 1 MONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601 5 5 1.0000 condition_record_support_limited 20 0 3 Autosomal_dominant_Parkinson_disease_1 5 low_record_burden_interpretation_limited low_record_burden_gene SNAPIN condition_not_provided condition not provided . 5 5 1.0000 condition_record_support_limited 20 5 5 See_cases 5 low_record_burden_interpretation_limited low_record_burden_gene SNAPIN mondo_mondo_0980710_medgen_cn380058_omim_621393 Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities MONDO:MONDO:0980710,MedGen:CN380058,OMIM:621393 5 5 1.0000 condition_record_support_limited 20 0 5 Neurodevelopmental_disorder_with_structural_brain_abnormalities_and_craniofacial_abnormalities 5 low_record_burden_interpretation_limited low_record_burden_gene SMPD4 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMOC1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene SMCHD1 human_phenotype_ontology_hp_0008970_mondo_mondo_0010884_medgen_c0410192_omim_600416_orphanet_269 Scapulohumeral muscular dystrophy Human_Phenotype_Ontology:HP:0008970,MONDO:MONDO:0010884,MedGen:C0410192,OMIM:600416,Orphanet:269 5 5 1.0000 condition_record_support_limited 20 0 0 Scapulohumeral_muscular_dystrophy 140 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SMC1A smc1a_related_disorder SMC1A-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 SMC1A-related_disorder 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCC1 mondo_mondo_0859376_medgen_c5830272_omim_620241 Hydrocephalus, congenital, 5, susceptibility to MONDO:MONDO:0859376,MedGen:C5830272,OMIM:620241 5 5 1.0000 condition_record_support_limited 20 0 4 Hydrocephalus,_congenital,_5,_susceptibility_to 12 low_record_burden_interpretation_limited low_record_burden_gene SMAD6 mondo_mondo_0044315_medgen_c4479496_omim_617439 Craniosynostosis 7 MONDO:MONDO:0044315,MedGen:C4479496,OMIM:617439 5 5 1.0000 condition_record_support_limited 20 0 3 Craniosynostosis_7 82 compact_adjacent_exon_block_opportunity local_compact_architecture SLITRK6 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene SLITRK2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability 5 low_record_burden_interpretation_limited low_record_burden_gene SLC6A8 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A19 human_phenotype_ontology_hp_0002931_human_phenotype_ontology_hp_0003108_mondo_mondo_0007677_medgen_c0543541_omim_138500 Hyperglycinuria Human_Phenotype_Ontology:HP:0002931,Human_Phenotype_Ontology:HP:0003108,MONDO:MONDO:0007677,MedGen:C0543541,OMIM:138500 5 5 1.0000 condition_record_support_limited 20 0 4 Hyperglycinuria 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC5A6 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene SLC5A2 slc5a2_related_disorder SLC5A2-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 2 SLC5A2-related_disorder 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC5A1 slc5a1_related_disorder SLC5A1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 SLC5A1-related_disorder 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC52A2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC39A7 mondo_mondo_0030519_medgen_c5562059_omim_619693_orphanet_693627 Agammaglobulinemia 9, autosomal recessive MONDO:MONDO:0030519,MedGen:C5562059,OMIM:619693,Orphanet:693627 5 5 1.0000 condition_record_support_limited 20 0 3 Agammaglobulinemia_9,_autosomal_recessive 6 low_record_burden_interpretation_limited low_record_burden_gene SLC35A2 non_lesional_focal_epilepsy non-lesional focal epilepsy . 5 5 1.0000 condition_record_support_limited 20 0 1 non-lesional_focal_epilepsy 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC34A3 slc34a3_related_disorder SLC34A3-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 SLC34A3-related_disorder 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC34A1 slc34a1_related_disorder SLC34A1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 SLC34A1-related_disorder 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC27A4 mondo_mondo_0017778_medgen_c5848247_orphanet_313 Lamellar ichthyosis MONDO:MONDO:0017778,MedGen:C5848247,Orphanet:313 5 5 1.0000 condition_record_support_limited 20 0 3 Lamellar_ichthyosis 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A4 human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 5 5 1.0000 condition_record_support_limited 20 0 5 Ear_malformation 631 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A3 slc26a3_related_disorder SLC26A3-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 SLC26A3-related_disorder 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A22 medgen_c0270855 Early myoclonic encephalopathy MedGen:C0270855 5 5 1.0000 condition_record_support_limited 20 0 3 Early_myoclonic_encephalopathy 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A20 slc25a20_related_disorder SLC25A20-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 SLC25A20-related_disorder 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A11 mondo_mondo_0032767_medgen_c5193112_omim_618464 Pheochromocytoma/paraganglioma syndrome 6 MONDO:MONDO:0032767,MedGen:C5193112,OMIM:618464 5 5 1.0000 condition_record_support_limited 20 0 0 Pheochromocytoma/paraganglioma_syndrome_6 5 low_record_burden_interpretation_limited low_record_burden_gene SLC25A1 mondo_mondo_0014072_medgen_c5574940_omim_615182_orphanet_356978 D,L-2-hydroxyglutaric aciduria MONDO:MONDO:0014072,MedGen:C5574940,OMIM:615182,Orphanet:356978 5 5 1.0000 condition_record_support_limited 20 0 5 D,L-2-hydroxyglutaric_aciduria 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC24A1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC17A8 mondo_mondo_0011568_medgen_c1854158_omim_605583_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 25 MONDO:MONDO:0011568,MedGen:C1854158,OMIM:605583,Orphanet:90635 5 5 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_nonsyndromic_hearing_loss_25 5 low_record_burden_interpretation_limited low_record_burden_gene SLC12A9 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene SLC12A2 slc12a2_related_disorder SLC12A2-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 1 SLC12A2-related_disorder 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A2 mondo_mondo_0033664_medgen_c5436756_omim_619080_orphanet_633021 Kilquist syndrome MONDO:MONDO:0033664,MedGen:C5436756,OMIM:619080,Orphanet:633021 5 5 1.0000 condition_record_support_limited 20 0 1 Kilquist_syndrome 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SIRT4 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 5 not_provided 30 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SHOX shox_related_disorder SHOX-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 3 SHOX-related_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SHOX mondo_mondo_0009588_medgen_c0432230_omim_249700_orphanet_2632 Langer mesomelic dysplasia syndrome MONDO:MONDO:0009588,MedGen:C0432230,OMIM:249700,Orphanet:2632 5 5 1.0000 condition_record_support_limited 20 0 5 Langer_mesomelic_dysplasia_syndrome 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SHANK2 mondo_mondo_0100038_medgen_c5568766_orphanet_528084 Complex neurodevelopmental disorder MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 5 5 1.0000 condition_record_support_limited 20 0 0 Complex_neurodevelopmental_disorder 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SH3BP2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene SH2D1A condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 43 compact_adjacent_exon_block_opportunity local_compact_architecture SGCA human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 5 5 1.0000 condition_record_support_limited 20 0 3 Abnormality_of_the_musculature 186 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SFTPA2 mondo_mondo_0800497_medgen_c5561926_omim_178500_orphanet_2032_orphanet_79126 Interstitial lung disease 2 MONDO:MONDO:0800497,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126 5 5 1.0000 condition_record_support_limited 20 0 1 Interstitial_lung_disease_2 5 low_record_burden_interpretation_limited low_record_burden_gene SF3B4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD1B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 95 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETBP1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPING1 mondo_mondo_0015054_medgen_c0398776_orphanet_100051 Hereditary C1 esterase inhibitor deficiency - dysfunctional factor MONDO:MONDO:0015054,MedGen:C0398776,Orphanet:100051 5 5 1.0000 condition_record_support_limited 20 0 2 Hereditary_C1_esterase_inhibitor_deficiency_-_dysfunctional_factor 374 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHC mondo_mondo_0011740_medgen_c1847319_omim_606864_orphanet_97286 Carney-Stratakis syndrome MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286 5 5 1.0000 condition_record_support_limited 20 0 5 Carney-Stratakis_syndrome 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCYL1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCNN1G mondo_mondo_0020854_medgen_c4748251_omim_618114 Liddle syndrome 2 MONDO:MONDO:0020854,MedGen:C4748251,OMIM:618114 5 5 1.0000 condition_record_support_limited 20 0 2 Liddle_syndrome_2 16 low_record_burden_interpretation_limited low_record_burden_gene SCN8A human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 5 5 1.0000 condition_record_support_limited 20 0 5 Global_developmental_delay 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN3A mondo_mondo_0054776_medgen_c4693694_omim_617935 Epilepsy, familial focal, with variable foci 4 MONDO:MONDO:0054776,MedGen:C4693694,OMIM:617935 5 5 1.0000 condition_record_support_limited 20 0 3 Epilepsy,_familial_focal,_with_variable_foci_4 36 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A human_phenotype_ontology_hp_0012469_medgen_c3887898 Infantile spasms Human_Phenotype_Ontology:HP:0012469,MedGen:C3887898 5 5 1.0000 condition_record_support_limited 20 0 2 Infantile_spasms 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A mondo_mondo_0100025_medgen_c4518639 Epilepsy of infancy with migrating focal seizures MONDO:MONDO:0100025,MedGen:C4518639 5 5 1.0000 condition_record_support_limited 20 0 4 Epilepsy_of_infancy_with_migrating_focal_seizures 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1B mondo_mondo_0011416_medgen_c1858672_omim_604233_orphanet_36387 Generalized epilepsy with febrile seizures plus, type 1 MONDO:MONDO:0011416,MedGen:C1858672,OMIM:604233,Orphanet:36387 5 5 1.0000 condition_record_support_limited 20 0 4 Generalized_epilepsy_with_febrile_seizures_plus,_type_1 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN1A scn1a_seizure_disorders SCN1A Seizure Disorders . 5 5 1.0000 condition_record_support_limited 20 0 3 SCN1A_Seizure_Disorders 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 1.0000 condition_record_support_limited 20 0 5 Intellectual_disability 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 5 5 1.0000 condition_record_support_limited 20 0 2 Epilepsy 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN11A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene SCN11A mondo_mondo_0014247_medgen_c3809899_omim_615552_orphanet_391384_orphanet_391392 Familial episodic pain syndrome with predominantly lower limb involvement MONDO:MONDO:0014247,MedGen:C3809899,OMIM:615552,Orphanet:391384,Orphanet:391392 5 5 1.0000 condition_record_support_limited 20 0 3 Familial_episodic_pain_syndrome_with_predominantly_lower_limb_involvement 9 low_record_burden_interpretation_limited low_record_burden_gene SCARB2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAMP4 mondo_mondo_0014119_medgen_c4750838_omim_615286_orphanet_363528 Intellectual disability-strabismus syndrome MONDO:MONDO:0014119,MedGen:C4750838,OMIM:615286,Orphanet:363528 5 5 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability-strabismus_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene SC5D mondo_mondo_0011816_medgen_c1846421_omim_607330_orphanet_46059 Lathosterolosis MONDO:MONDO:0011816,MedGen:C1846421,OMIM:607330,Orphanet:46059 5 5 1.0000 condition_record_support_limited 20 0 0 Lathosterolosis 5 low_record_burden_interpretation_limited low_record_burden_gene SATB2 mondo_mondo_0100147_medgen_cn294806_orphanet_576278 SATB2 associated disorder MONDO:MONDO:0100147,MedGen:CN294806,Orphanet:576278 5 5 1.0000 condition_record_support_limited 20 0 3 SATB2_associated_disorder 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SARM1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene SARM1 mondo_mondo_0009238_medgen_c0342705_omim_229050_orphanet_90045 Congenital defect of folate absorption MONDO:MONDO:0009238,MedGen:C0342705,OMIM:229050,Orphanet:90045 5 5 1.0000 condition_record_support_limited 20 0 3 Congenital_defect_of_folate_absorption 7 low_record_burden_interpretation_limited low_record_burden_gene SAMD9L mondo_mondo_0008038_medgen_c1327919_omim_159550_orphanet_2585 Ataxia-pancytopenia syndrome MONDO:MONDO:0008038,MedGen:C1327919,OMIM:159550,Orphanet:2585 5 5 1.0000 condition_record_support_limited 20 0 3 Ataxia-pancytopenia_syndrome 19 low_record_burden_interpretation_limited low_record_burden_gene SALL4 sall4_related_disorder SALL4-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 1 SALL4-related_disorder 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SAG mondo_mondo_0013407_medgen_c3151061_omim_613758_orphanet_791 Retinitis pigmentosa 47 MONDO:MONDO:0013407,MedGen:C3151061,OMIM:613758,Orphanet:791 5 5 1.0000 condition_record_support_limited 20 0 5 Retinitis_pigmentosa_47 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RUSC2 mondo_mondo_0030915_medgen_c4540424_omim_617773 Intellectual disability, autosomal recessive 61 MONDO:MONDO:0030915,MedGen:C4540424,OMIM:617773 5 5 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability,_autosomal_recessive_61 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RTN2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene RTN2 mondo_mondo_0011489_medgen_c1858106_omim_604805_orphanet_100993 Hereditary spastic paraplegia 12 MONDO:MONDO:0011489,MedGen:C1858106,OMIM:604805,Orphanet:100993 5 5 1.0000 condition_record_support_limited 20 0 4 Hereditary_spastic_paraplegia_12 15 low_record_burden_interpretation_limited low_record_burden_gene RRAS2 mondo_mondo_0032839_medgen_c5231432_omim_618624 Noonan syndrome 12 MONDO:MONDO:0032839,MedGen:C5231432,OMIM:618624 5 5 1.0000 condition_record_support_limited 20 0 5 Noonan_syndrome_12 11 low_record_burden_interpretation_limited low_record_burden_gene RPS6KC1 mondo_mondo_0980947_medgen_cn380793_omim_621460 Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter MONDO:MONDO:0980947,MedGen:CN380793,OMIM:621460 5 5 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_spasticity,_thin_corpus_callosum,_and_decreased_brain_white_matter 6 low_record_burden_interpretation_limited low_record_burden_gene RPS6KA3 rps6ka3_related_disorder RPS6KA3-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 1 RPS6KA3-related_disorder 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS17 mondo_mondo_0012924_medgen_c2675860_omim_612527_orphanet_124 Diamond-Blackfan anemia 4 MONDO:MONDO:0012924,MedGen:C2675860,OMIM:612527,Orphanet:124 5 5 1.0000 condition_record_support_limited 20 0 2 Diamond-Blackfan_anemia_4 6 low_record_burden_interpretation_limited low_record_burden_gene RPS10 mondo_mondo_0013216_medgen_c2750081_omim_613308_orphanet_124 Diamond-Blackfan anemia 9 MONDO:MONDO:0013216,MedGen:C2750081,OMIM:613308,Orphanet:124 5 5 1.0000 condition_record_support_limited 20 0 2 Diamond-Blackfan_anemia_9 10 low_record_burden_interpretation_limited low_record_burden_gene RPS10 human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Diamond-Blackfan anemia Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 5 5 1.0000 condition_record_support_limited 20 0 2 Diamond-Blackfan_anemia 10 low_record_burden_interpretation_limited low_record_burden_gene RPL3L mondo_mondo_0030300_medgen_c5543535_omim_619371 Cardiomyopathy, dilated, 2D MONDO:MONDO:0030300,MedGen:C5543535,OMIM:619371 5 5 1.0000 condition_record_support_limited 20 0 0 Cardiomyopathy,_dilated,_2D 6 low_record_burden_interpretation_limited low_record_burden_gene RPL26 mondo_mondo_0013964_medgen_c3554042_omim_614900_orphanet_124 Diamond-Blackfan anemia 11 MONDO:MONDO:0013964,MedGen:C3554042,OMIM:614900,Orphanet:124 5 5 1.0000 condition_record_support_limited 20 0 0 Diamond-Blackfan_anemia_11 5 low_record_burden_interpretation_limited low_record_burden_gene RPL10 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene RPL10 mondo_mondo_0030908_medgen_c4478383_omim_300998 Intellectual disability, X-linked, syndromic, 35 MONDO:MONDO:0030908,MedGen:C4478383,OMIM:300998 5 5 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_X-linked,_syndromic,_35 9 low_record_burden_interpretation_limited low_record_burden_gene ROGDI condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ROBO4 mondo_mondo_0032783_medgen_c5193127_omim_618496 Aortic valve disease 3 MONDO:MONDO:0032783,MedGen:C5193127,OMIM:618496 5 5 1.0000 condition_record_support_limited 20 0 1 Aortic_valve_disease_3 15 low_record_burden_interpretation_limited low_record_burden_gene RNU7-1 mondo_mondo_0030362_medgen_c5561966_omim_619487 Aicardi-Goutieres syndrome 9 MONDO:MONDO:0030362,MedGen:C5561966,OMIM:619487 5 5 1.0000 condition_record_support_limited 20 0 4 Aicardi-Goutieres_syndrome_9 5 low_record_burden_interpretation_limited low_record_burden_gene RNU4-2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 5 not_provided 30 single_exon_hotspot_opportunity local_compact_architecture RNF170 mondo_mondo_0030512_medgen_c5562053_omim_619686_orphanet_631082 Spastic paraplegia 85, autosomal recessive MONDO:MONDO:0030512,MedGen:C5562053,OMIM:619686,Orphanet:631082 5 5 1.0000 condition_record_support_limited 20 0 3 Spastic_paraplegia_85,_autosomal_recessive 6 low_record_burden_interpretation_limited low_record_burden_gene RNF17 mondo_mondo_0013358_medgen_c3888212_omim_613676_orphanet_808 Seckel syndrome 4 MONDO:MONDO:0013358,MedGen:C3888212,OMIM:613676,Orphanet:808 5 5 1.0000 condition_record_support_limited 20 0 4 Seckel_syndrome_4 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNF13 mondo_mondo_0034106_medgen_c5193065_omim_618379_orphanet_544503 Developmental and epileptic encephalopathy, 73 MONDO:MONDO:0034106,MedGen:C5193065,OMIM:618379,Orphanet:544503 5 5 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_73 7 low_record_burden_interpretation_limited low_record_burden_gene RNASEH2A rnaseh2a_related_disorder RNASEH2A-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 RNASEH2A-related_disorder 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNASEH2A mondo_mondo_0018866_medgen_c0393591_omim_ps225750_orphanet_51 Aicardi Goutieres syndrome MONDO:MONDO:0018866,MedGen:C0393591,OMIM:PS225750,Orphanet:51 5 5 1.0000 condition_record_support_limited 20 0 5 Aicardi_Goutieres_syndrome 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNASEH1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene RMRP rmrp_related_disorder RMRP-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 RMRP-related_disorder 302 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation RLIG1 cep290_related_disorder CEP290-related disorder MedGen:CN239314 5 5 1.0000 condition_record_support_limited 20 0 5 CEP290-related_disorder 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIPK1 mondo_mondo_0020849_medgen_c4748212_omim_618108 Immunodeficiency 57 MONDO:MONDO:0020849,MedGen:C4748212,OMIM:618108 5 5 1.0000 condition_record_support_limited 20 0 2 Immunodeficiency_57 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIN2 mondo_mondo_0013115_medgen_c2751321_omim_613075_orphanet_217335 RIN2 syndrome MONDO:MONDO:0013115,MedGen:C2751321,OMIM:613075,Orphanet:217335 5 5 1.0000 condition_record_support_limited 20 0 2 RIN2_syndrome 18 low_record_burden_interpretation_limited low_record_burden_gene RHAG mondo_mondo_0008493_medgen_c1861455_omim_185000_orphanet_3203 Overhydrated hereditary stomatocytosis MONDO:MONDO:0008493,MedGen:C1861455,OMIM:185000,Orphanet:3203 5 5 1.0000 condition_record_support_limited 20 0 3 Overhydrated_hereditary_stomatocytosis 18 low_record_burden_interpretation_limited low_record_burden_gene RFX5 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture REST mondo_mondo_0033493_medgen_c4539942_omim_617626 Fibromatosis, gingival, 5 MONDO:MONDO:0033493,MedGen:C4539942,OMIM:617626 5 5 1.0000 condition_record_support_limited 20 0 2 Fibromatosis,_gingival,_5 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RELT mondo_mondo_0032717_medgen_c5193069_omim_618386 Amelogenesis imperfecta, type 3C MONDO:MONDO:0032717,MedGen:C5193069,OMIM:618386 5 5 1.0000 condition_record_support_limited 20 0 0 Amelogenesis_imperfecta,_type_3C 8 low_record_burden_interpretation_limited low_record_burden_gene REL condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene REEP2 mondo_mondo_0014282_medgen_c5882669_omim_615625_orphanet_401849 Hereditary spastic paraplegia 72 MONDO:MONDO:0014282,MedGen:C5882669,OMIM:615625,Orphanet:401849 5 5 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia_72 7 low_record_burden_interpretation_limited low_record_burden_gene RDH5 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 1.0000 condition_record_support_limited 20 0 4 Retinal_dystrophy 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBM28 mondo_mondo_0012794_medgen_c2677535_omim_612079_orphanet_157954 ANE syndrome MONDO:MONDO:0012794,MedGen:C2677535,OMIM:612079,Orphanet:157954 5 5 1.0000 condition_record_support_limited 20 0 0 ANE_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene RBM20 efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 5 5 1.0000 condition_record_support_limited 20 0 5 Primary_dilated_cardiomyopathy 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RANBP2 human_phenotype_ontology_hp_0000968_human_phenotype_ontology_hp_0007436_human_phenotype_ontology_hp_0007615_mondo_mondo_0019287_medgen_c0013575_omim_ps305100_orphanet_79373 Ectodermal dysplasia Human_Phenotype_Ontology:HP:0000968,Human_Phenotype_Ontology:HP:0007436,Human_Phenotype_Ontology:HP:0007615,MONDO:MONDO:0019287,MedGen:C0013575,OMIM:PS305100,Orphanet:79373 5 5 1.0000 condition_record_support_limited 20 0 3 Ectodermal_dysplasia 96 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RALA condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene RAD51C inherited_ovarian_cancer_without_breast_cancer Inherited ovarian cancer (without breast cancer) . 5 5 1.0000 condition_record_support_limited 20 0 4 Inherited_ovarian_cancer_(without_breast_cancer) 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene RAB3GAP1 mondo_mondo_0030376_medgen_c5543626_omim_619420 Martsolf syndrome 2 MONDO:MONDO:0030376,MedGen:C5543626,OMIM:619420 5 5 1.0000 condition_record_support_limited 20 0 4 Martsolf_syndrome_2 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB39B mondo_mondo_0010289_medgen_c1846038_omim_300271_orphanet_777 Intellectual disability, X-linked 72 MONDO:MONDO:0010289,MedGen:C1846038,OMIM:300271,Orphanet:777 5 5 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_X-linked_72 12 low_record_burden_interpretation_limited low_record_burden_gene RAB33B condition_not_provided condition not provided .|MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 See_cases|not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene RAB33A mondo_mondo_0010275_medgen_c1846148_omim_300232_orphanet_168448_orphanet_83629 Spondyloepimetaphyseal dysplasia, Bieganski type MONDO:MONDO:0010275,MedGen:C1846148,OMIM:300232,Orphanet:168448,Orphanet:83629 5 5 1.0000 condition_record_support_limited 20 0 0 Spondyloepimetaphyseal_dysplasia,_Bieganski_type 47 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RAB33A mondo_mondo_0000732_medgen_c4540031_omim_ps609060 Combined oxidative phosphorylation deficiency MONDO:MONDO:0000732,MedGen:C4540031,OMIM:PS609060 5 5 1.0000 condition_record_support_limited 20 0 5 Combined_oxidative_phosphorylation_deficiency 47 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RAB33A charcot_marie_tooth_neuropathy_x Charcot-Marie-Tooth Neuropathy X MedGen:CN118851 5 5 1.0000 condition_record_support_limited 20 0 5 Charcot-Marie-Tooth_Neuropathy_X 47 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RAB27A rab27a_related_disorder RAB27A-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 RAB27A-related_disorder 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB27A mondo_mondo_0019751_medgen_c3890737_orphanet_93665 Autoinflammatory syndrome MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 5 5 1.0000 condition_record_support_limited 20 0 4 Autoinflammatory_syndrome 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture QRSL1 mondo_mondo_0030006_medgen_c5394232_omim_618835_orphanet_570491 Combined oxidative phosphorylation deficiency 40 MONDO:MONDO:0030006,MedGen:C5394232,OMIM:618835,Orphanet:570491 5 5 1.0000 condition_record_support_limited 20 0 3 Combined_oxidative_phosphorylation_deficiency_40 12 low_record_burden_interpretation_limited low_record_burden_gene PYCR1 pycr1_related_disorder PYCR1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 PYCR1-related_disorder 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUS10 mondo_mondo_0013949_medgen_c3554000_omim_614883_orphanet_912 Peroxisome biogenesis disorder 11A (Zellweger) MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883,Orphanet:912 5 5 1.0000 condition_record_support_limited 20 0 1 Peroxisome_biogenesis_disorder_11A_(Zellweger) 5 low_record_burden_interpretation_limited low_record_burden_gene PURA medgen_c4708498 PURA Syndrome MedGen:C4708498 5 5 1.0000 condition_record_support_limited 20 0 4 PURA_Syndrome 218 single_exon_hotspot_opportunity local_compact_architecture PUF60 mondo_mondo_0034989_medgen_c5568572_orphanet_508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome MONDO:MONDO:0034989,MedGen:C5568572,Orphanet:508498 5 5 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability-cardiac_anomalies-short_stature-joint_laxity_syndrome 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTRH2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene PTPRO condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene PTPRO mondo_mondo_0013619_medgen_c3280100_omim_614196_orphanet_656 Nephrotic syndrome, type 6 MONDO:MONDO:0013619,MedGen:C3280100,OMIM:614196,Orphanet:656 5 5 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome,_type_6 10 low_record_burden_interpretation_limited low_record_burden_gene PTPRA mondo_mondo_0025691_medgen_c5543312_omim_619291 Dystonia 30 MONDO:MONDO:0025691,MedGen:C5543312,OMIM:619291 5 5 1.0000 condition_record_support_limited 20 0 1 Dystonia_30 6 low_record_burden_interpretation_limited low_record_burden_gene PTPN11 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 5 5 1.0000 condition_record_support_limited 20 0 3 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTH1R mondo_mondo_0010803_medgen_c1838779_omim_600002_orphanet_79106 Eiken syndrome MONDO:MONDO:0010803,MedGen:C1838779,OMIM:600002,Orphanet:79106 5 5 1.0000 condition_record_support_limited 20 0 4 Eiken_syndrome 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTEN human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Endometrial carcinoma Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 5 5 1.0000 condition_record_support_limited 20 0 5 Endometrial_carcinoma 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN mondo_mondo_0007924_medgen_c0265326_orphanet_109 Bannayan-Riley-Ruvalcaba syndrome MONDO:MONDO:0007924,MedGen:C0265326,Orphanet:109 5 5 1.0000 condition_record_support_limited 20 0 4 Bannayan-Riley-Ruvalcaba_syndrome 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN autosomal_dominant_pten_related_disorders Autosomal dominant PTEN-related disorders . 5 5 1.0000 condition_record_support_limited 20 0 4 Autosomal_dominant_PTEN-related_disorders 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PSMG2 mondo_mondo_0008944_medgen_c4551568_omim_213300 Joubert syndrome 1 MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300 5 5 1.0000 condition_record_support_limited 20 0 0 Joubert_syndrome_1 14 low_record_burden_interpretation_limited low_record_burden_gene PSMB10 mondo_mondo_0030924_medgen_c5543027_omim_619175 Proteasome-associated autoinflammatory syndrome 5 MONDO:MONDO:0030924,MedGen:C5543027,OMIM:619175 5 5 1.0000 condition_record_support_limited 20 0 0 Proteasome-associated_autoinflammatory_syndrome_5 9 low_record_burden_interpretation_limited low_record_burden_gene PSEN1 mondo_mondo_0013371_medgen_c3160720_omim_613694_orphanet_154 Dilated cardiomyopathy 1U MONDO:MONDO:0013371,MedGen:C3160720,OMIM:613694,Orphanet:154 5 5 1.0000 condition_record_support_limited 20 0 5 Dilated_cardiomyopathy_1U 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRX mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRSS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene PRRX1 mondo_mondo_0008740_medgen_c0265242_omim_202650_orphanet_990 Agnathia-otocephaly complex MONDO:MONDO:0008740,MedGen:C0265242,OMIM:202650,Orphanet:990 5 5 1.0000 condition_record_support_limited 20 0 0 Agnathia-otocephaly_complex 6 low_record_burden_interpretation_limited low_record_burden_gene PRRT2 prrt2_related_disorder PRRT2-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 PRRT2-related_disorder 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPS1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPH2 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 5 5 1.0000 condition_record_support_limited 20 0 5 Retinal_disorder 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRPF8 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 5 5 1.0000 condition_record_support_limited 20 0 3 Retinitis_pigmentosa 77 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PRPF3 mondo_mondo_0011075_medgen_c1832378_omim_601414_orphanet_791 Retinitis pigmentosa 18 MONDO:MONDO:0011075,MedGen:C1832378,OMIM:601414,Orphanet:791 5 5 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa_18 12 low_record_burden_interpretation_limited low_record_burden_gene PROS1 pros1_related_disorder PROS1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 PROS1-related_disorder 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROP1 mondo_mondo_0013099_medgen_c4273747_omim_ps613038_orphanet_95494 Combined pituitary hormone deficiencies, genetic form MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038,Orphanet:95494 5 5 1.0000 condition_record_support_limited 20 0 5 Combined_pituitary_hormone_deficiencies,_genetic_form 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKRA mondo_mondo_0012789_medgen_c2677567_omim_612067_orphanet_210571 Dystonia 16 MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067,Orphanet:210571 5 5 1.0000 condition_record_support_limited 20 0 1 Dystonia_16 5 low_record_burden_interpretation_limited low_record_burden_gene PRKAR1A mondo_mondo_0009719_medgen_c2931787_omim_255960_orphanet_615 Familial atrial myxoma MONDO:MONDO:0009719,MedGen:C2931787,OMIM:255960,Orphanet:615 5 5 1.0000 condition_record_support_limited 20 0 3 Familial_atrial_myxoma 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAG2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 5 5 1.0000 condition_record_support_limited 20 5 5 not_provided|not_specified 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAG2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 5 5 1.0000 condition_record_support_limited 20 0 4 Cardiovascular_phenotype 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRF1 prf1_related_disorder PRF1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 PRF1-related_disorder 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRF1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRCD human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 1.0000 condition_record_support_limited 20 0 5 Retinal_dystrophy 13 low_record_burden_interpretation_limited low_record_burden_gene PPP3CA mondo_mondo_0032642_medgen_c4748872_omim_618265_orphanet_565858 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MONDO:MONDO:0032642,MedGen:C4748872,OMIM:618265,Orphanet:565858 5 5 1.0000 condition_record_support_limited 20 0 3 Arthrogryposis,_cleft_palate,_craniosynostosis,_and_impaired_intellectual_development 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP1R13L efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 5 5 1.0000 condition_record_support_limited 20 0 3 Primary_dilated_cardiomyopathy 12 low_record_burden_interpretation_limited low_record_burden_gene PPP1CB mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 5 5 1.0000 condition_record_support_limited 20 0 5 RASopathy 14 low_record_burden_interpretation_limited low_record_burden_gene PPM1D mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 5 5 1.0000 condition_record_support_limited 20 0 4 Familial_cancer_of_breast 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPIL1 mondo_mondo_0030258_medgen_c5543322_omim_619301_orphanet_613274 Pontocerebellar hypoplasia, type 14 MONDO:MONDO:0030258,MedGen:C5543322,OMIM:619301,Orphanet:613274 5 5 1.0000 condition_record_support_limited 20 0 4 Pontocerebellar_hypoplasia,_type_14 10 low_record_burden_interpretation_limited low_record_burden_gene PPA2 mondo_mondo_0014974_medgen_c4310663_omim_617223 Sudden cardiac failure, alcohol-induced MONDO:MONDO:0014974,MedGen:C4310663,OMIM:617223 5 5 1.0000 condition_record_support_limited 20 0 5 Sudden_cardiac_failure,_alcohol-induced 18 low_record_burden_interpretation_limited low_record_burden_gene PPA2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 18 low_record_burden_interpretation_limited low_record_burden_gene POPDC1 mondo_mondo_0014782_medgen_c5568138_omim_616812_orphanet_476084 Autosomal recessive limb-girdle muscular dystrophy type 2X MONDO:MONDO:0014782,MedGen:C5568138,OMIM:616812,Orphanet:476084 5 5 1.0000 condition_record_support_limited 20 0 3 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2X 6 low_record_burden_interpretation_limited low_record_burden_gene POMGNT1 mondo_mondo_0700068_medgen_cn305639 Myopathy caused by variation in POMGNT1 MONDO:MONDO:0700068,MedGen:CN305639 5 5 1.0000 condition_record_support_limited 20 0 2 Myopathy_caused_by_variation_in_POMGNT1 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR1D condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene POLR1C mondo_mondo_0700278_medgen_cn239394 POLR1C-related disorder MONDO:MONDO:0700278,MedGen:CN239394 5 5 1.0000 condition_record_support_limited 20 0 3 POLR1C-related_disorder 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG mondo_mondo_0016809_medgen_c1843852_orphanet_254881 Spinocerebellar ataxia with epilepsy MONDO:MONDO:0016809,MedGen:C1843852,Orphanet:254881 5 5 1.0000 condition_record_support_limited 20 0 5 Spinocerebellar_ataxia_with_epilepsy 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLE mondo_mondo_0032684_medgen_c5193036_omim_618336 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency MONDO:MONDO:0032684,MedGen:C5193036,OMIM:618336 5 5 1.0000 condition_record_support_limited 20 0 1 Intrauterine_growth_retardation,_metaphyseal_dysplasia,_adrenal_hypoplasia_congenita,_genital_anomalies,_and_immunodeficiency 487 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture POGZ pogz_related_disorder POGZ-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 POGZ-related_disorder 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POFUT1 mondo_mondo_0014130_medgen_c3809147_omim_615327_orphanet_79145 Dowling-Degos disease 2 MONDO:MONDO:0014130,MedGen:C3809147,OMIM:615327,Orphanet:79145 5 5 1.0000 condition_record_support_limited 20 0 0 Dowling-Degos_disease_2 6 low_record_burden_interpretation_limited low_record_burden_gene POC1B human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA6 mondo_mondo_0009514_medgen_c0023138_omim_245800_orphanet_2377 Laurence-Moon syndrome MONDO:MONDO:0009514,MedGen:C0023138,OMIM:245800,Orphanet:2377 5 5 1.0000 condition_record_support_limited 20 0 4 Laurence-Moon_syndrome 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLXND1 mondo_mondo_0859532_medgen_c5830367_omim_620294 Congenital heart defects, multiple types, 9 MONDO:MONDO:0859532,MedGen:C5830367,OMIM:620294 5 5 1.0000 condition_record_support_limited 20 0 1 Congenital_heart_defects,_multiple_types,_9 6 low_record_burden_interpretation_limited low_record_burden_gene PLXNA1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 5 5 1.0000 condition_record_support_limited 20 0 5 Neurodevelopmental_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene PLOD1 mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 Ehlers-Danlos syndrome MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 5 5 1.0000 condition_record_support_limited 20 0 3 Ehlers-Danlos_syndrome 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLK4 mondo_mondo_0014516_medgen_c4015388_omim_616171_orphanet_808 Microcephaly and chorioretinopathy 2 MONDO:MONDO:0014516,MedGen:C4015388,OMIM:616171,Orphanet:808 5 5 1.0000 condition_record_support_limited 20 0 2 Microcephaly_and_chorioretinopathy_2 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLCB4 mondo_mondo_0011234_medgen_c4551996_omim_602483_orphanet_137888 Auriculocondylar syndrome 1 MONDO:MONDO:0011234,MedGen:C4551996,OMIM:602483,Orphanet:137888 5 5 1.0000 condition_record_support_limited 20 0 4 Auriculocondylar_syndrome_1 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLA2G4A mondo_mondo_0018794_medgen_c5567651_omim_618372_orphanet_477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder MONDO:MONDO:0018794,MedGen:C5567651,OMIM:618372,Orphanet:477787 5 5 1.0000 condition_record_support_limited 20 0 0 Cytosolic_phospholipase-A2_alpha_deficiency_associated_bleeding_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene PKHD1 human_phenotype_ontology_hp_0000088_human_phenotype_ontology_hp_0000107_human_phenotype_ontology_hp_0000109_mondo_mondo_0002473_medgen_c3887499 Renal cyst Human_Phenotype_Ontology:HP:0000088,Human_Phenotype_Ontology:HP:0000107,Human_Phenotype_Ontology:HP:0000109,MONDO:MONDO:0002473,MedGen:C3887499 5 5 1.0000 condition_record_support_limited 20 0 4 Renal_cyst 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PKD1 mondo_mondo_0010916_medgen_c3887964_omim_600666 Polycystic kidney disease 3 with or without polycystic liver disease MONDO:MONDO:0010916,MedGen:C3887964,OMIM:600666 5 5 1.0000 condition_record_support_limited 20 0 4 Polycystic_kidney_disease_3_with_or_without_polycystic_liver_disease 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PITX1 human_phenotype_ontology_hp_0001762_mondo_mondo_0007342_medgen_c0009081_omim_119800_orphanet_199315 Clubfoot Human_Phenotype_Ontology:HP:0001762,MONDO:MONDO:0007342,MedGen:C0009081,OMIM:119800,Orphanet:199315 5 5 1.0000 condition_record_support_limited 20 0 1 Clubfoot 9 low_record_burden_interpretation_limited low_record_burden_gene PIP5K1C condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene PIK3R1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CD mondo_mondo_0023655_medgen_c5543301_omim_619281 Immunodeficiency 14b, autosomal recessive MONDO:MONDO:0023655,MedGen:C5543301,OMIM:619281 5 5 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency_14b,_autosomal_recessive 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0031287_mondo_mondo_0008420_medgen_c0022603_omim_182000 Seborrheic keratosis Human_Phenotype_Ontology:HP:0031287,MONDO:MONDO:0008420,MedGen:C0022603,OMIM:182000 5 5 1.0000 condition_record_support_limited 20 0 5 Seborrheic_keratosis 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 5 5 1.0000 condition_record_support_limited 20 0 5 Gastric_cancer 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0010816_mondo_mondo_0008093_medgen_c0334082_omim_162900_orphanet_79414 Epidermal nevus Human_Phenotype_Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414 5 5 1.0000 condition_record_support_limited 20 0 5 Epidermal_nevus 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 5 5 1.0000 condition_record_support_limited 20 0 4 Colorectal_cancer 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 5 5 1.0000 condition_record_support_limited 20 0 5 Carcinoma_of_colon 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGV condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene PHKA2 phka2_related_disorder PHKA2-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 3 PHKA2-related_disorder 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHKA1 mondo_mondo_0700291_medgen_c0268147_orphanet_370 Glycogen phosphorylase kinase deficiency MONDO:MONDO:0700291,MedGen:C0268147,Orphanet:370 5 5 1.0000 condition_record_support_limited 20 0 4 Glycogen_phosphorylase_kinase_deficiency 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF3 eys_related_disorder EYS-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 EYS-related_disorder 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PGM3 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 5 not_provided 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PGM2L1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene PGM2L1 mondo_mondo_0859347_medgen_c5774285_omim_620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities MONDO:MONDO:0859347,MedGen:C5774285,OMIM:620191 5 5 1.0000 condition_record_support_limited 20 0 3 Neurodevelopmental_disorder_with_hypotonia,_dysmorphic_facies,_and_skin_abnormalities 8 low_record_burden_interpretation_limited low_record_burden_gene PGK1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene PFAS mondo_mondo_0015780_medgen_c0265965_omim_ps127550_orphanet_1775 Dyskeratosis congenita MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775 5 5 1.0000 condition_record_support_limited 20 0 3 Dyskeratosis_congenita 8 low_record_burden_interpretation_limited low_record_burden_gene PEX13 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX13 mondo_mondo_0013950_medgen_c3554001_omim_614885_orphanet_44 Peroxisome biogenesis disorder 11B MONDO:MONDO:0013950,MedGen:C3554001,OMIM:614885,Orphanet:44 5 5 1.0000 condition_record_support_limited 20 0 4 Peroxisome_biogenesis_disorder_11B 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX11B condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene PERCC1 mondo_mondo_0032857_medgen_c5231449_omim_618662 Diarrhea 11, malabsorptive, congenital MONDO:MONDO:0032857,MedGen:C5231449,OMIM:618662 5 5 1.0000 condition_record_support_limited 20 0 0 Diarrhea_11,_malabsorptive,_congenital 5 low_record_burden_interpretation_limited low_record_burden_gene PDX1 mondo_mondo_0024547_medgen_c3891828_omim_260370_orphanet_2805 Pancreatic agenesis 1 MONDO:MONDO:0024547,MedGen:C3891828,OMIM:260370,Orphanet:2805 5 5 1.0000 condition_record_support_limited 20 0 4 Pancreatic_agenesis_1 14 low_record_burden_interpretation_limited low_record_burden_gene PDSS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene PDGFRA human_phenotype_ontology_hp_0100723_mondo_mondo_0011719_mesh_d046152_medgen_c0238198_omim_606764_orphanet_44890 Gastrointestinal stromal tumor Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890 5 5 1.0000 condition_record_support_limited 20 0 1 Gastrointestinal_stromal_tumor 7 low_record_burden_interpretation_limited low_record_burden_gene PDE8B condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene PDCD10 pdcd10_related_disorder PDCD10-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 PDCD10-related_disorder 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCSK9 mondo_mondo_0005439_medgen_c0020445_omim_ps143890 Familial hypercholesterolemia MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 5 5 1.0000 condition_record_support_limited 20 0 5 Familial_hypercholesterolemia 18 low_record_burden_interpretation_limited low_record_burden_gene PCDH15 mondo_mondo_0010168_medgen_c1568247_omim_276900_orphanet_231169_orphanet_886 Usher syndrome type 1 MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886 5 5 1.0000 condition_record_support_limited 20 0 5 Usher_syndrome_type_1 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PCDH15 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 1.0000 condition_record_support_limited 20 0 4 Retinal_dystrophy 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PCCB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCARE medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 5 5 1.0000 condition_record_support_limited 20 0 4 Autosomal_recessive_retinitis_pigmentosa 151 compact_adjacent_exon_block_opportunity local_compact_architecture PAX9 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX8 human_phenotype_ontology_hp_0000851_mondo_mondo_0018612_medgen_c0010308_orphanet_442 Congenital hypothyroidism Human_Phenotype_Ontology:HP:0000851,MONDO:MONDO:0018612,MedGen:C0010308,Orphanet:442 5 5 1.0000 condition_record_support_limited 20 0 1 Congenital_hypothyroidism 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX7 mondo_mondo_0032821_medgen_c5231417_omim_618578 Myopathy, congenital, progressive, with scoliosis MONDO:MONDO:0032821,MedGen:C5231417,OMIM:618578 5 5 1.0000 condition_record_support_limited 20 0 1 Myopathy,_congenital,_progressive,_with_scoliosis 5 low_record_burden_interpretation_limited low_record_burden_gene PAX3 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 5 5 1.0000 condition_record_support_limited 20 0 4 Rare_genetic_deafness 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX3 mondo_mondo_0007395_medgen_c1852510_omim_122880_orphanet_1529 Craniofacial-deafness-hand syndrome MONDO:MONDO:0007395,MedGen:C1852510,OMIM:122880,Orphanet:1529 5 5 1.0000 condition_record_support_limited 20 0 4 Craniofacial-deafness-hand_syndrome 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAN2 mondo_mondo_0980727_medgen_cn380173_omim_621384 Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies MONDO:MONDO:0980727,MedGen:CN380173,OMIM:621384 5 5 1.0000 condition_record_support_limited 20 0 2 Developmental_delay_with_variable_cardiac_and_renal_congenital_anomalies_and_dysmorphic_facies 6 low_record_burden_interpretation_limited low_record_burden_gene PALB2 human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Breast neoplasm Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 5 5 1.0000 condition_record_support_limited 20 0 5 Breast_neoplasm 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control P4HTM condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 0 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene OTX2 otx2_related_disorder OTX2-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 1 OTX2-related_disorder 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTC mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 438 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OSMR mondo_mondo_0024522_medgen_c4551501_omim_105250_orphanet_353220 Amyloidosis, primary localized cutaneous, 1 MONDO:MONDO:0024522,MedGen:C4551501,OMIM:105250,Orphanet:353220 5 5 1.0000 condition_record_support_limited 20 0 2 Amyloidosis,_primary_localized_cutaneous,_1 5 low_record_burden_interpretation_limited low_record_burden_gene OSBPL2 mondo_mondo_0014594_medgen_c4084712_omim_616340_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 67 MONDO:MONDO:0014594,MedGen:C4084712,OMIM:616340,Orphanet:90635 5 5 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_nonsyndromic_hearing_loss_67 6 low_record_burden_interpretation_limited low_record_burden_gene OPN1LW condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene OPA3 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 38 compact_adjacent_exon_block_opportunity local_compact_architecture OPA1 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 5 5 1.0000 condition_record_support_limited 20 0 5 Mitochondrial_disease 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA1 mondo_mondo_0014820_medgen_c4225163_omim_616896 Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896 5 5 1.0000 condition_record_support_limited 20 0 4 Mitochondrial_DNA_depletion_syndrome_14_(cardioencephalomyopathic_type) 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OLFML2B condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene OGDH mondo_mondo_0008759_medgen_c2752074_omim_203740_orphanet_31 Oxoglutaricaciduria MONDO:MONDO:0008759,MedGen:C2752074,OMIM:203740,Orphanet:31 5 5 1.0000 condition_record_support_limited 20 0 0 Oxoglutaricaciduria 5 low_record_burden_interpretation_limited low_record_burden_gene ODAD1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 5 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NXN condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene NTRK2 mondo_mondo_0013483_medgen_c3151303_omim_613886 Obesity, hyperphagia, and developmental delay MONDO:MONDO:0013483,MedGen:C3151303,OMIM:613886 5 5 1.0000 condition_record_support_limited 20 0 2 Obesity,_hyperphagia,_and_developmental_delay 14 low_record_burden_interpretation_limited low_record_burden_gene NTNG2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 5 5 1.0000 condition_record_support_limited 20 0 5 Neurodevelopmental_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene NSUN2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NSMCE2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene NSD1 human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Acute myeloid leukemia Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 5 5 1.0000 condition_record_support_limited 20 0 5 Acute_myeloid_leukemia 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NRXN1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAS mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 Noonan syndrome 1 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 5 5 1.0000 condition_record_support_limited 20 0 5 Noonan_syndrome_1 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR5A1 mondo_mondo_0002145_medgen_c2930619_orphanet_90771 Disorder of sexual differentiation MONDO:MONDO:0002145,MedGen:C2930619,Orphanet:90771 5 5 1.0000 condition_record_support_limited 20 0 2 Disorder_of_sexual_differentiation 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR2E3 mondo_mondo_0100289_medgen_c0339541_orphanet_53540 Goldmann-Favre syndrome MONDO:MONDO:0100289,MedGen:C0339541,Orphanet:53540 5 5 1.0000 condition_record_support_limited 20 0 4 Goldmann-Favre_syndrome 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP1 nphp1_related_disorder NPHP1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 NPHP1-related_disorder 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NOG mondo_mondo_0012658_medgen_c1969652_omim_611377_orphanet_140908 Brachydactyly type B2 MONDO:MONDO:0012658,MedGen:C1969652,OMIM:611377,Orphanet:140908 5 5 1.0000 condition_record_support_limited 20 0 3 Brachydactyly_type_B2 50 single_exon_hotspot_opportunity local_compact_architecture NOD2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NOBOX medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 5 5 1.0000 condition_record_support_limited 20 0 0 Genetic_non-acquired_premature_ovarian_failure 15 low_record_burden_interpretation_limited low_record_burden_gene NMNAT1 mondo_mondo_0031007_medgen_c5543257_omim_619260_orphanet_611207 Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MONDO:MONDO:0031007,MedGen:C5543257,OMIM:619260,Orphanet:611207 5 5 1.0000 condition_record_support_limited 20 0 4 Spondyloepiphyseal_dysplasia,_sensorineural_hearing_loss,_impaired_intellectual_development,_and_leber_congenital_amaurosis 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NMNAT1 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 5 5 1.0000 condition_record_support_limited 20 0 2 Leber_congenital_amaurosis 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NLRP3 mondo_mondo_0033261_medgen_c4521680_omim_617772 Hearing loss, autosomal dominant 34, with or without inflammation MONDO:MONDO:0033261,MedGen:C4521680,OMIM:617772 5 5 1.0000 condition_record_support_limited 20 0 5 Hearing_loss,_autosomal_dominant_34,_with_or_without_inflammation 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NLRC4 mondo_mondo_0014498_medgen_c4015276_omim_616115_orphanet_47045_orphanet_576349 Familial cold autoinflammatory syndrome 4 MONDO:MONDO:0014498,MedGen:C4015276,OMIM:616115,Orphanet:47045,Orphanet:576349 5 5 1.0000 condition_record_support_limited 20 0 4 Familial_cold_autoinflammatory_syndrome_4 14 low_record_burden_interpretation_limited low_record_burden_gene NKX3-2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene NIPSNAP3B condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene NFU1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene NF1 human_phenotype_ontology_hp_0009734_mondo_mondo_0003235_medgen_c0346326 Optic nerve glioma Human_Phenotype_Ontology:HP:0009734,MONDO:MONDO:0003235,MedGen:C0346326 5 5 1.0000 condition_record_support_limited 20 0 4 Optic_nerve_glioma 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NEUROD2 mondo_mondo_0032710_medgen_c5193063_omim_618374 Developmental and epileptic encephalopathy, 72 MONDO:MONDO:0032710,MedGen:C5193063,OMIM:618374 5 5 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_72 8 low_record_burden_interpretation_limited low_record_burden_gene NEK9 mondo_mondo_0014870_medgen_c5568141_omim_617022_orphanet_464366 NEK9-related lethal skeletal dysplasia MONDO:MONDO:0014870,MedGen:C5568141,OMIM:617022,Orphanet:464366 5 5 1.0000 condition_record_support_limited 20 0 2 NEK9-related_lethal_skeletal_dysplasia 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFB11 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene NDUFAF8 mondo_mondo_0032910_medgen_c5394053_omim_618776 Mitochondrial complex I deficiency, nuclear type 34 MONDO:MONDO:0032910,MedGen:C5394053,OMIM:618776 5 5 1.0000 condition_record_support_limited 20 0 4 Mitochondrial_complex_I_deficiency,_nuclear_type_34 5 low_record_burden_interpretation_limited low_record_burden_gene NDUFA6 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 5 5 1.0000 condition_record_support_limited 20 0 5 Mitochondrial_disease 5 low_record_burden_interpretation_limited low_record_burden_gene NDUFA6 mondo_mondo_0032636_medgen_c4748840_omim_618253 Mitochondrial complex I deficiency, nuclear type 33 MONDO:MONDO:0032636,MedGen:C4748840,OMIM:618253 5 5 1.0000 condition_record_support_limited 20 0 5 Mitochondrial_complex_I_deficiency,_nuclear_type_33 5 low_record_burden_interpretation_limited low_record_burden_gene NDUFA13 mondo_mondo_0032632_medgen_c4748827_omim_618249 Mitochondrial complex I deficiency, nuclear type 28 MONDO:MONDO:0032632,MedGen:C4748827,OMIM:618249 5 5 1.0000 condition_record_support_limited 20 0 3 Mitochondrial_complex_I_deficiency,_nuclear_type_28 6 low_record_burden_interpretation_limited low_record_burden_gene NDNF mondo_mondo_0030010_medgen_c5394246_omim_618841 Hypogonadotropic hypogonadism 25 with anosmia MONDO:MONDO:0030010,MedGen:C5394246,OMIM:618841 5 5 1.0000 condition_record_support_limited 20 0 0 Hypogonadotropic_hypogonadism_25_with_anosmia 6 low_record_burden_interpretation_limited low_record_burden_gene NBN mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 5 5 1.0000 condition_record_support_limited 20 0 5 Hereditary_breast_ovarian_cancer_syndrome 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NBAS nbas_related_disorder NBAS-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 3 NBAS-related_disorder 245 large_gene_or_donor_burden_stress_case donor_burden_stress NADSYN1 congenital_nad_deficiency_disorder Congenital NAD deficiency disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 Congenital_NAD_deficiency_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene NACC1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene MYOT condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 5 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene MYOD1 mondo_mondo_0033548_medgen_c5436530_omim_618975 Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies MONDO:MONDO:0033548,MedGen:C5436530,OMIM:618975 5 5 1.0000 condition_record_support_limited 20 0 2 Myopathy,_congenital,_with_diaphragmatic_defects,_respiratory_insufficiency,_and_dysmorphic_facies 5 low_record_burden_interpretation_limited low_record_burden_gene MYOCD mondo_mondo_0032879_medgen_c5231472_omim_618719 Megabladder, congenital MONDO:MONDO:0032879,MedGen:C5231472,OMIM:618719 5 5 1.0000 condition_record_support_limited 20 0 2 Megabladder,_congenital 5 low_record_burden_interpretation_limited low_record_burden_gene MYO15A human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 5 5 1.0000 condition_record_support_limited 20 0 1 Ear_malformation 714 large_gene_or_donor_burden_stress_case donor_burden_stress MYL3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene MYH7 efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 5 5 1.0000 condition_record_support_limited 20 0 0 Primary_dilated_cardiomyopathy 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH7 human_phenotype_ontology_hp_0030682_mondo_mondo_0018901_medgen_c1960469_omim_ps604169_orphanet_54260 Left ventricular noncompaction Human_Phenotype_Ontology:HP:0030682,MONDO:MONDO:0018901,MedGen:C1960469,OMIM:PS604169,Orphanet:54260 5 5 1.0000 condition_record_support_limited 20 0 5 Left_ventricular_noncompaction 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH6 mondo_mondo_0013197_medgen_c2750467_omim_613251 Hypertrophic cardiomyopathy 14 MONDO:MONDO:0013197,MedGen:C2750467,OMIM:613251 5 5 1.0000 condition_record_support_limited 20 0 2 Hypertrophic_cardiomyopathy_14 15 low_record_burden_interpretation_limited low_record_burden_gene MYD88 mondo_mondo_0012839_medgen_c2677092_omim_612260_orphanet_183713 Pyogenic bacterial infections due to MyD88 deficiency MONDO:MONDO:0012839,MedGen:C2677092,OMIM:612260,Orphanet:183713 5 5 1.0000 condition_record_support_limited 20 0 1 Pyogenic_bacterial_infections_due_to_MyD88_deficiency 5 low_record_burden_interpretation_limited low_record_burden_gene MYBPC3 efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 5 5 1.0000 condition_record_support_limited 20 0 5 Primary_dilated_cardiomyopathy 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC1 mondo_mondo_0032797_medgen_c5231401_omim_618524 Myopathy, congenital, with tremor MONDO:MONDO:0032797,MedGen:C5231401,OMIM:618524 5 5 1.0000 condition_record_support_limited 20 0 3 Myopathy,_congenital,_with_tremor 14 low_record_burden_interpretation_limited low_record_burden_gene MVK human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 1.0000 condition_record_support_limited 20 0 5 Retinal_dystrophy 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MVD mondo_mondo_0013868_medgen_c3553549_omim_614714 Porokeratosis 7, multiple types MONDO:MONDO:0013868,MedGen:C3553549,OMIM:614714 5 5 1.0000 condition_record_support_limited 20 0 1 Porokeratosis_7,_multiple_types 7 low_record_burden_interpretation_limited low_record_burden_gene MUTYH human_phenotype_ontology_hp_0006753_mondo_mondo_0021085_medgen_c0038356 Neoplasm of stomach Human_Phenotype_Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356 5 5 1.0000 condition_record_support_limited 20 0 5 Neoplasm_of_stomach 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH mondo_mondo_0023113_medgen_cn280943 Familial colorectal cancer MONDO:MONDO:0023113,MedGen:CN280943 5 5 1.0000 condition_record_support_limited 20 0 5 Familial_colorectal_cancer 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MTO1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTMR10 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTHFS mondo_mondo_0032705_medgen_c5193057_omim_618367_orphanet_597874 Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination MONDO:MONDO:0032705,MedGen:C5193057,OMIM:618367,Orphanet:597874 5 5 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_microcephaly,_epilepsy,_and_hypomyelination 6 low_record_burden_interpretation_limited low_record_burden_gene MSH6 human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Ovarian neoplasm Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 5 5 1.0000 condition_record_support_limited 20 0 2 Ovarian_neoplasm 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MRPS34 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene MRPL49 mondo_mondo_0978298_medgen_c6012722_omim_621195 Combined oxidative phosphorylation deficiency 60 MONDO:MONDO:0978298,MedGen:C6012722,OMIM:621195 5 5 1.0000 condition_record_support_limited 20 0 3 Combined_oxidative_phosphorylation_deficiency_60 6 low_record_burden_interpretation_limited low_record_burden_gene MPO condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene MPO mpo_related_disorder MPO-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 MPO-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene MPDU1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 0 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene MNX1 mnx1_related_disorder MNX1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 2 MNX1-related_disorder 50 compact_adjacent_exon_block_opportunity local_compact_architecture MN1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 29 compact_adjacent_exon_block_opportunity local_compact_architecture MLPH condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene MKKS human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 1.0000 condition_record_support_limited 20 0 4 Retinal_dystrophy 124 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MKKS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 124 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITF mondo_mondo_0019517_medgen_c2700265_orphanet_895 Waardenburg syndrome type 2 MONDO:MONDO:0019517,MedGen:C2700265,Orphanet:895 5 5 1.0000 condition_record_support_limited 20 0 5 Waardenburg_syndrome_type_2 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITF mitf_related_disorder MITF-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 MITF-related_disorder 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITF mondo_mondo_0015014_medgen_c4310625_omim_617306_orphanet_603494 Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness MONDO:MONDO:0015014,MedGen:C4310625,OMIM:617306,Orphanet:603494 5 5 1.0000 condition_record_support_limited 20 0 5 Coloboma,_osteopetrosis,_microphthalmia,_macrocephaly,_albinism,_and_deafness 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFSD8 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFSD8 mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 Neuronal ceroid lipofuscinosis MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 5 5 1.0000 condition_record_support_limited 20 0 3 Neuronal_ceroid_lipofuscinosis 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture METTL23 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MET human_phenotype_ontology_hp_0005584_human_phenotype_ontology_hp_0006720_mondo_mondo_0005086_mesh_d002292_medgen_c0007134_orphanet_217071 Renal cell carcinoma Human_Phenotype_Ontology:HP:0005584,Human_Phenotype_Ontology:HP:0006720,MONDO:MONDO:0005086,MeSH:D002292,MedGen:C0007134,Orphanet:217071 5 5 1.0000 condition_record_support_limited 20 0 4 Renal_cell_carcinoma 13 low_record_burden_interpretation_limited low_record_burden_gene MET mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 5 5 1.0000 condition_record_support_limited 20 0 4 Hereditary_cancer-predisposing_syndrome 13 low_record_burden_interpretation_limited low_record_burden_gene MESD mondo_mondo_0032846_medgen_c5231439_omim_618644 Osteogenesis imperfecta, type 20 MONDO:MONDO:0032846,MedGen:C5231439,OMIM:618644 5 5 1.0000 condition_record_support_limited 20 0 1 Osteogenesis_imperfecta,_type_20 8 low_record_burden_interpretation_limited low_record_burden_gene MEI1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene MED12 mondo_mondo_0100000_medgen_cn305246 MED12-related intellectual disability syndrome MONDO:MONDO:0100000,MedGen:CN305246 5 5 1.0000 condition_record_support_limited 20 0 4 MED12-related_intellectual_disability_syndrome 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MECR human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 5 5 1.0000 condition_record_support_limited 20 0 5 Optic_atrophy 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECR medgen_c0752202 Childhood Onset Dystonias MedGen:C0752202 5 5 1.0000 condition_record_support_limited 20 0 5 Childhood_Onset_Dystonias 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECOM human_phenotype_ontology_hp_0002974_human_phenotype_ontology_hp_0003962_mondo_mondo_0017985_medgen_c0158761_orphanet_3269 Radioulnar synostosis Human_Phenotype_Ontology:HP:0002974,Human_Phenotype_Ontology:HP:0003962,MONDO:MONDO:0017985,MedGen:C0158761,Orphanet:3269 5 5 1.0000 condition_record_support_limited 20 0 1 Radioulnar_synostosis 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MDH2 mondo_mondo_0015025_medgen_c4479208_omim_617339 Developmental and epileptic encephalopathy, 51 MONDO:MONDO:0015025,MedGen:C4479208,OMIM:617339 5 5 1.0000 condition_record_support_limited 20 0 3 Developmental_and_epileptic_encephalopathy,_51 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCOLN1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCIDAS mondo_mondo_0032872_medgen_c5231464_omim_618695 Ciliary dyskinesia, primary, 42 MONDO:MONDO:0032872,MedGen:C5231464,OMIM:618695 5 5 1.0000 condition_record_support_limited 20 0 1 Ciliary_dyskinesia,_primary,_42 17 low_record_burden_interpretation_limited low_record_burden_gene MBD4 mbd4_related_disorder MBD4-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 MBD4-related_disorder 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAX condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MATN3 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene MATN3 human_phenotype_ontology_hp_0002654_mondo_mondo_0016648_medgen_c0026760_omim_ps132400_orphanet_251 Multiple epiphyseal dysplasia Human_Phenotype_Ontology:HP:0002654,MONDO:MONDO:0016648,MedGen:C0026760,OMIM:PS132400,Orphanet:251 5 5 1.0000 condition_record_support_limited 20 0 5 Multiple_epiphyseal_dysplasia 12 low_record_burden_interpretation_limited low_record_burden_gene MAST3 mondo_mondo_0859314_medgen_c5774253_omim_620115 Developmental and epileptic encephalopathy 108 MONDO:MONDO:0859314,MedGen:C5774253,OMIM:620115 5 5 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy_108 8 low_record_burden_interpretation_limited low_record_burden_gene MAST1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene MARK2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAPT mondo_mondo_0009839_medgen_c1850077_omim_260540_orphanet_240085_orphanet_683_orphanet_99750 Progressive supranuclear palsy-parkinsonism syndrome MONDO:MONDO:0009839,MedGen:C1850077,OMIM:260540,Orphanet:240085,Orphanet:683,Orphanet:99750 5 5 1.0000 condition_record_support_limited 20 0 5 Progressive_supranuclear_palsy-parkinsonism_syndrome 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP3K1 human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Ovarian neoplasm Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 5 5 1.0000 condition_record_support_limited 20 0 0 Ovarian_neoplasm 18 low_record_burden_interpretation_limited low_record_burden_gene MAP1B map1b_related_disorder MAP1B-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 3 MAP1B-related_disorder 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MAN2B1 man2b1_related_disorder MAN2B1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 MAN2B1-related_disorder 358 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAN2B1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 358 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAGED2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene LZTR1 mondo_mondo_0020297_medgen_c5681679_orphanet_98733 Noonan syndrome and Noonan-related syndrome MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 5 5 1.0000 condition_record_support_limited 20 0 4 Noonan_syndrome_and_Noonan-related_syndrome 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LYRM7 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene LTBP3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LSS mondo_mondo_0014673_medgen_c4225300_omim_616509_orphanet_91492_orphanet_98994 Cataract 44 MONDO:MONDO:0014673,MedGen:C4225300,OMIM:616509,Orphanet:91492,Orphanet:98994 5 5 1.0000 condition_record_support_limited 20 0 2 Cataract_44 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRRK2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene LRRC56 mondo_mondo_0024291_medgen_c0158570 Vascular malformation MONDO:MONDO:0024291,MedGen:C0158570 5 5 1.0000 condition_record_support_limited 20 0 2 Vascular_malformation 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 mondo_mondo_0023644_medgen_c0220641 Lip and oral cavity carcinoma MONDO:MONDO:0023644,MedGen:C0220641 5 5 1.0000 condition_record_support_limited 20 0 5 Lip_and_oral_cavity_carcinoma 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 mondo_mondo_0032637_medgen_c4748841_omim_618254 Ciliary dyskinesia, primary, 39 MONDO:MONDO:0032637,MedGen:C4748841,OMIM:618254 5 5 1.0000 condition_record_support_limited 20 0 2 Ciliary_dyskinesia,_primary,_39 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC37A2 mondo_mondo_0859336_medgen_c5774274_omim_620166 Muscular dystrophy, congenital, with or without seizures MONDO:MONDO:0859336,MedGen:C5774274,OMIM:620166 5 5 1.0000 condition_record_support_limited 20 0 5 Muscular_dystrophy,_congenital,_with_or_without_seizures 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRAT human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LPIN2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LORICRIN mondo_mondo_0011396_medgen_c1858805_omim_604117_orphanet_79395 Loricrin keratoderma MONDO:MONDO:0011396,MedGen:C1858805,OMIM:604117,Orphanet:79395 5 5 1.0000 condition_record_support_limited 20 0 1 Loricrin_keratoderma 8 low_record_burden_interpretation_limited low_record_burden_gene LMNB1 medgen_c5680774_orphanet_269528 Syndrome with microcephaly as major feature MedGen:C5680774,Orphanet:269528 5 5 1.0000 condition_record_support_limited 20 0 5 Syndrome_with_microcephaly_as_major_feature 9 low_record_burden_interpretation_limited low_record_burden_gene LMNA mondo_mondo_0021106_medgen_c5392094_orphanet_98301 Laminopathy MONDO:MONDO:0021106,MedGen:C5392094,Orphanet:98301 5 5 1.0000 condition_record_support_limited 20 0 4 Laminopathy 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 5 5 1.0000 condition_record_support_limited 20 0 3 Abnormality_of_the_musculature 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMBRD1 mondo_mondo_0010184_medgen_c1848561_omim_277400_orphanet_26_orphanet_79282 Cobalamin C disease MONDO:MONDO:0010184,MedGen:C1848561,OMIM:277400,Orphanet:26,Orphanet:79282 5 5 1.0000 condition_record_support_limited 20 0 3 Cobalamin_C_disease 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMBR1 human_phenotype_ontology_hp_0001199_human_phenotype_ontology_hp_0005846_human_phenotype_ontology_hp_0006194_human_phenotype_ontology_hp_0009610_human_phenotype_ontology_hp_0009619_medgen_c0241397 Triphalangeal thumb Human_Phenotype_Ontology:HP:0001199,Human_Phenotype_Ontology:HP:0005846,Human_Phenotype_Ontology:HP:0006194,Human_Phenotype_Ontology:HP:0009610,Human_Phenotype_Ontology:HP:0009619,MedGen:C0241397 5 5 1.0000 condition_record_support_limited 20 0 5 Triphalangeal_thumb 18 low_record_burden_interpretation_limited low_record_burden_gene LIG4 lig4_related_disorder LIG4-related disorder MedGen:CN239380 5 5 1.0000 condition_record_support_limited 20 0 4 LIG4-related_disorder 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LHX4 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 0 See_cases|not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene LHX2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene LHFPL5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided|not_specified 23 compact_adjacent_exon_block_opportunity local_compact_architecture LGI1 mondo_mondo_0980966_medgen_cn380843_omim_621475 Developmental and epileptic encephalopathy 121 MONDO:MONDO:0980966,MedGen:CN380843,OMIM:621475 5 5 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy_121 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LETM1 mondo_mondo_0859304_medgen_c5774240_omim_620089 Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction MONDO:MONDO:0859304,MedGen:C5774240,OMIM:620089 5 5 1.0000 condition_record_support_limited 20 0 4 Neurodegeneration,_childhood-onset,_with_multisystem_involvement_due_to_mitochondrial_dysfunction 9 low_record_burden_interpretation_limited low_record_burden_gene LEP mondo_mondo_0013991_medgen_c3554224_omim_614962_orphanet_66628 Obesity due to congenital leptin deficiency MONDO:MONDO:0013991,MedGen:C3554224,OMIM:614962,Orphanet:66628 5 5 1.0000 condition_record_support_limited 20 0 3 Obesity_due_to_congenital_leptin_deficiency 8 low_record_burden_interpretation_limited low_record_burden_gene LEF1 mondo_mondo_0979228_medgen_c6012731_omim_621224 Ectodermal dysplasia 17 with or without limb malformations MONDO:MONDO:0979228,MedGen:C6012731,OMIM:621224 5 5 1.0000 condition_record_support_limited 20 0 2 Ectodermal_dysplasia_17_with_or_without_limb_malformations 6 low_record_burden_interpretation_limited low_record_burden_gene LDB3 mondo_mondo_0011094_medgen_c1832244_omim_601493_orphanet_154_orphanet_54260 Dilated cardiomyopathy 1C MONDO:MONDO:0011094,MedGen:C1832244,OMIM:601493,Orphanet:154,Orphanet:54260 5 5 1.0000 condition_record_support_limited 20 0 2 Dilated_cardiomyopathy_1C 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LBR rhizomelic_skeletal_dysplasia_with_pelger_huet_anomaly RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY . 5 5 1.0000 condition_record_support_limited 20 0 4 RHIZOMELIC_SKELETAL_DYSPLASIA_WITH_PELGER-HUET_ANOMALY 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARS2 mondo_mondo_0017312_medgen_c0685838_omim_ps233400_orphanet_2855 Perrault syndrome MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855 5 5 1.0000 condition_record_support_limited 20 0 5 Perrault_syndrome 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARS1 mondo_mondo_0024568_medgen_c3809522_omim_615438_orphanet_370088 Infantile liver failure syndrome 1 MONDO:MONDO:0024568,MedGen:C3809522,OMIM:615438,Orphanet:370088 5 5 1.0000 condition_record_support_limited 20 0 1 Infantile_liver_failure_syndrome_1 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARP7 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARGE1 mondo_mondo_0013158_medgen_c3150414_omim_613154_orphanet_588_orphanet_899 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 MONDO:MONDO:0013158,MedGen:C3150414,OMIM:613154,Orphanet:588,Orphanet:899 5 5 1.0000 condition_record_support_limited 20 0 1 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A6 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMC2 mondo_mondo_0009180_medgen_c0268374_omim_226650_orphanet_251393_orphanet_79402_orphanet_79405_orphanet_89840 Junctional epidermolysis bullosa, non-Herlitz type MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840 5 5 1.0000 condition_record_support_limited 20 0 2 Junctional_epidermolysis_bullosa,_non-Herlitz_type 223 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMB3 lamb3_related_disorder LAMB3-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 LAMB3-related_disorder 305 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMA5 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 5 5 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome 24 large_gene_or_donor_burden_stress_case donor_burden_stress KRT3 mondo_mondo_0032904_medgen_c5231495_omim_618767 Corneal dystrophy, Meesmann, 2 MONDO:MONDO:0032904,MedGen:C5231495,OMIM:618767 5 5 1.0000 condition_record_support_limited 20 0 3 Corneal_dystrophy,_Meesmann,_2 5 low_record_burden_interpretation_limited low_record_burden_gene KRT17 human_phenotype_ontology_hp_0012035_mondo_mondo_0008485_medgen_c0259771_omim_184500_orphanet_841 Steatocystoma multiplex Human_Phenotype_Ontology:HP:0012035,MONDO:MONDO:0008485,MedGen:C0259771,OMIM:184500,Orphanet:841 5 5 1.0000 condition_record_support_limited 20 0 5 Steatocystoma_multiplex 18 low_record_burden_interpretation_limited low_record_burden_gene KRT1 mondo_mondo_0007808_medgen_c1840296_omim_146590_orphanet_79503 Ichthyosis hystrix of Curth-Macklin MONDO:MONDO:0007808,MedGen:C1840296,OMIM:146590,Orphanet:79503 5 5 1.0000 condition_record_support_limited 20 0 3 Ichthyosis_hystrix_of_Curth-Macklin 48 compact_adjacent_exon_block_opportunity local_compact_architecture KRT1 mondo_mondo_0700249_medgen_c5781874_omim_113800 Epidermolytic hyperkeratosis 1 MONDO:MONDO:0700249,MedGen:C5781874,OMIM:113800 5 5 1.0000 condition_record_support_limited 20 0 3 Epidermolytic_hyperkeratosis_1 48 compact_adjacent_exon_block_opportunity local_compact_architecture KRT1 human_phenotype_ontology_hp_0007404_mondo_mondo_0010962_medgen_c1833030_omim_600962_orphanet_530838 Diffuse nonepidermolytic palmoplantar keratoderma Human_Phenotype_Ontology:HP:0007404,MONDO:MONDO:0010962,MedGen:C1833030,OMIM:600962,Orphanet:530838 5 5 1.0000 condition_record_support_limited 20 0 4 Diffuse_nonepidermolytic_palmoplantar_keratoderma 48 compact_adjacent_exon_block_opportunity local_compact_architecture KRAS mondo_mondo_0015278_medgen_c2931038_omim_260350_orphanet_1333 Familial pancreatic carcinoma MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333 5 5 1.0000 condition_record_support_limited 20 0 5 Familial_pancreatic_carcinoma 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0013074_medgen_c0406612_omim_613001_orphanet_2396 Encephalocraniocutaneous lipomatosis MONDO:MONDO:0013074,MedGen:C0406612,OMIM:613001,Orphanet:2396 5 5 1.0000 condition_record_support_limited 20 0 5 Encephalocraniocutaneous_lipomatosis 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 5 5 1.0000 condition_record_support_limited 20 0 4 Cardiovascular_phenotype 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KNG1 human_phenotype_ontology_hp_0004867_human_phenotype_ontology_hp_0005500_human_phenotype_ontology_hp_0005527_human_phenotype_ontology_hp_0005530_human_phenotype_ontology_hp_0005538_mondo_mondo_0009234_medgen_c0272340_omim_228960_orphanet_483 High molecular weight kininogen deficiency Human_Phenotype_Ontology:HP:0004867,Human_Phenotype_Ontology:HP:0005500,Human_Phenotype_Ontology:HP:0005527,Human_Phenotype_Ontology:HP:0005530,Human_Phenotype_Ontology:HP:0005538,MONDO:MONDO:0009234,MedGen:C0272340,OMIM:228960,Orphanet:483 5 5 1.0000 condition_record_support_limited 20 0 1 High_molecular_weight_kininogen_deficiency 9 low_record_burden_interpretation_limited low_record_burden_gene KMT2C kmt2c_related_disorder KMT2C-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 1 KMT2C-related_disorder 174 large_gene_or_donor_burden_stress_case donor_burden_stress KLK4 mondo_mondo_0008772_medgen_c2673922_omim_204700_orphanet_88661 Amelogenesis imperfecta type 2A1 MONDO:MONDO:0008772,MedGen:C2673922,OMIM:204700,Orphanet:88661 5 5 1.0000 condition_record_support_limited 20 0 2 Amelogenesis_imperfecta_type_2A1 7 low_record_burden_interpretation_limited low_record_burden_gene KLHL20 mondo_mondo_0980709_medgen_cn380057_omim_621390 Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities MONDO:MONDO:0980709,MedGen:CN380057,OMIM:621390 5 5 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_early-onset_seizures,_facial_dysmorphism,_and_behavioral_abnormalities 7 low_record_burden_interpretation_limited low_record_burden_gene KLF6 medgen_c4015779 Prostate cancer, somatic MedGen:C4015779 5 5 1.0000 condition_record_support_limited 20 0 0 Prostate_cancer,_somatic 6 low_record_burden_interpretation_limited low_record_burden_gene KLF1 medgen_c3150805_omim_613566_orphanet_251380 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 MedGen:C3150805,OMIM:613566,Orphanet:251380 5 5 1.0000 condition_record_support_limited 20 0 5 FETAL_HEMOGLOBIN_QUANTITATIVE_TRAIT_LOCUS_6 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KITLG mondo_mondo_0007771_medgen_c1840392_omim_145250_orphanet_280628_orphanet_79146 Hyperpigmentation with or without hypopigmentation, familial progressive MONDO:MONDO:0007771,MedGen:C1840392,OMIM:145250,Orphanet:280628,Orphanet:79146 5 5 1.0000 condition_record_support_limited 20 0 0 Hyperpigmentation_with_or_without_hypopigmentation,_familial_progressive 11 low_record_burden_interpretation_limited low_record_burden_gene KISS1R medgen_c4016875 Hypogonadotropic hypogonadism 8 without anosmia MedGen:C4016875 5 5 1.0000 condition_record_support_limited 20 0 2 Hypogonadotropic_hypogonadism_8_without_anosmia 16 low_record_burden_interpretation_limited low_record_burden_gene KIF5A kif5a_related_disorder KIF5A-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 3 KIF5A-related_disorder 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF22 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene KIF21A condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene KIF1A mondo_mondo_0700307_medgen_cn380650_omim_610357 Spastic paraplegia 30A, autosomal dominant MONDO:MONDO:0700307,MedGen:CN380650,OMIM:610357 5 5 1.0000 condition_record_support_limited 20 0 2 Spastic_paraplegia_30A,_autosomal_dominant 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIF12 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene KICS2 mondo_mondo_0976231_medgen_c6012698_omim_621100 Intellectual developmental disorder, autosomal recessive 83 MONDO:MONDO:0976231,MedGen:C6012698,OMIM:621100 5 5 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder,_autosomal_recessive_83 5 low_record_burden_interpretation_limited low_record_burden_gene KIAA1549 mondo_mondo_0032834_medgen_c5231428_omim_618613 Retinitis pigmentosa 86 MONDO:MONDO:0032834,MedGen:C5231428,OMIM:618613 5 5 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa_86 8 low_record_burden_interpretation_limited low_record_burden_gene KIAA0825 mondo_mondo_0032785_medgen_c5193129_omim_618498 Polydactyly, postaxial, type a10 MONDO:MONDO:0032785,MedGen:C5193129,OMIM:618498 5 5 1.0000 condition_record_support_limited 20 0 1 Polydactyly,_postaxial,_type_a10 8 low_record_burden_interpretation_limited low_record_burden_gene KIAA0586 kiaa0586_related_disorder KIAA0586-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 3 KIAA0586-related_disorder 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM1A mondo_mondo_0014751_medgen_c4225229_omim_616728_orphanet_477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome MONDO:MONDO:0014751,MedGen:C4225229,OMIM:616728,Orphanet:477993 5 5 1.0000 condition_record_support_limited 20 0 1 Palatal_anomalies-widely_spaced_teeth-facial_dysmorphism-developmental_delay_syndrome 16 low_record_burden_interpretation_limited low_record_burden_gene KCTD7 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCTD7 mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 Neuronal ceroid lipofuscinosis MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 5 5 1.0000 condition_record_support_limited 20 0 1 Neuronal_ceroid_lipofuscinosis 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCTD17 mondo_mondo_0014620_medgen_c4225341_omim_616398 Myoclonic dystonia 26 MONDO:MONDO:0014620,MedGen:C4225341,OMIM:616398 5 5 1.0000 condition_record_support_limited 20 0 1 Myoclonic_dystonia_26 5 low_record_burden_interpretation_limited low_record_burden_gene KCNT1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 5 5 1.0000 condition_record_support_limited 20 0 4 Seizure 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ4 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 5 5 1.0000 condition_record_support_limited 20 0 3 Rare_genetic_deafness 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 mondo_mondo_0010632_medgen_c3463992_omim_308350 Developmental and epileptic encephalopathy, 1 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 5 5 1.0000 condition_record_support_limited 20 0 3 Developmental_and_epileptic_encephalopathy,_1 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1OT1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 5 5 1.0000 condition_record_support_limited 20 0 5 Cardiovascular_phenotype 19 low_record_burden_interpretation_limited low_record_burden_gene KCNMA1 mondo_mondo_0060551_medgen_c4539985_omim_617643 Cerebellar atrophy, developmental delay, and seizures MONDO:MONDO:0060551,MedGen:C4539985,OMIM:617643 5 5 1.0000 condition_record_support_limited 20 0 2 Cerebellar_atrophy,_developmental_delay,_and_seizures 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNK4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided|not_specified 6 low_record_burden_interpretation_limited low_record_burden_gene KCNJ5 mondo_mondo_0013359_medgen_c3838758_omim_613677_orphanet_251274 Familial hyperaldosteronism type III MONDO:MONDO:0013359,MedGen:C3838758,OMIM:613677,Orphanet:251274 5 5 1.0000 condition_record_support_limited 20 0 3 Familial_hyperaldosteronism_type_III 8 low_record_burden_interpretation_limited low_record_burden_gene KCNJ2 mondo_mondo_0013513_medgen_c3151431_omim_613980 Atrial fibrillation, familial, 9 MONDO:MONDO:0013513,MedGen:C3151431,OMIM:613980 5 5 1.0000 condition_record_support_limited 20 0 5 Atrial_fibrillation,_familial,_9 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ11 human_phenotype_ontology_hp_0000857_medgen_c3278636 Neonatal insulin-dependent diabetes mellitus Human_Phenotype_Ontology:HP:0000857,MedGen:C3278636 5 5 1.0000 condition_record_support_limited 20 0 3 Neonatal_insulin-dependent_diabetes_mellitus 72 single_exon_hotspot_opportunity local_compact_architecture KCNJ11 human_phenotype_ontology_hp_0000819_human_phenotype_ontology_hp_0004908_human_phenotype_ontology_hp_0008217_human_phenotype_ontology_hp_0008234_human_phenotype_ontology_hp_0008260_mondo_mondo_0005015_medgen_c0011849 Diabetes mellitus Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849 5 5 1.0000 condition_record_support_limited 20 0 4 Diabetes_mellitus 72 single_exon_hotspot_opportunity local_compact_architecture KCNH5 mondo_mondo_0800491_medgen_c0393706_orphanet_1934 Early-infantile DEE MONDO:MONDO:0800491,MedGen:C0393706,Orphanet:1934 5 5 1.0000 condition_record_support_limited 20 0 2 Early-infantile_DEE 11 low_record_burden_interpretation_limited low_record_burden_gene KCNH2 kcnh2_related_disorder KCNH2-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 KCNH2-related_disorder 720 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KAT6A kat6a_related_disorder KAT6A-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 0 KAT6A-related_disorder 191 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 191 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KASH5 mondo_mondo_0957821_medgen_c5882706_omim_620547 Spermatogenic failure 88 MONDO:MONDO:0957821,MedGen:C5882706,OMIM:620547 5 5 1.0000 condition_record_support_limited 20 0 2 Spermatogenic_failure_88 7 low_record_burden_interpretation_limited low_record_burden_gene KARS1 leukoencephalopathy_progressive_infantile_onset_with_deafness LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS . 5 5 1.0000 condition_record_support_limited 20 0 3 LEUKOENCEPHALOPATHY,_PROGRESSIVE,_INFANTILE-ONSET,_WITH_DEAFNESS 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KARS1 mondo_mondo_0013489_medgen_c3151351_omim_613916_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 89 MONDO:MONDO:0013489,MedGen:C3151351,OMIM:613916,Orphanet:90636 5 5 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_nonsyndromic_hearing_loss_89 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JARID2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JAM3 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene JAG2 mondo_mondo_0030456_medgen_c5562002_omim_619566 Muscular dystrophy, limb-girdle, autosomal recessive 27 MONDO:MONDO:0030456,MedGen:C5562002,OMIM:619566 5 5 1.0000 condition_record_support_limited 20 0 1 Muscular_dystrophy,_limb-girdle,_autosomal_recessive_27 5 low_record_burden_interpretation_limited low_record_burden_gene IVD mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGB3 mondo_mondo_0008552_medgen_c5442010_omim_187800_orphanet_140957 Platelet-type bleeding disorder 16 MONDO:MONDO:0008552,MedGen:C5442010,OMIM:187800,Orphanet:140957 5 5 1.0000 condition_record_support_limited 20 0 5 Platelet-type_bleeding_disorder_16 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IQSEC2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IPO8 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INSL3 human_phenotype_ontology_hp_0000028_human_phenotype_ontology_hp_0000797_mondo_mondo_0009047_medgen_c0010417_omim_219050 Cryptorchidism Human_Phenotype_Ontology:HP:0000028,Human_Phenotype_Ontology:HP:0000797,MONDO:MONDO:0009047,MedGen:C0010417,OMIM:219050 5 5 1.0000 condition_record_support_limited 20 0 0 Cryptorchidism 7 low_record_burden_interpretation_limited low_record_burden_gene INF2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ILDR1 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 5 5 1.0000 condition_record_support_limited 20 0 4 Hearing_loss,_autosomal_recessive 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL6ST mondo_mondo_0800131_medgen_c5676920_omim_619752 Hyper-IgE recurrent infection syndrome 4A, autosomal dominant MONDO:MONDO:0800131,MedGen:C5676920,OMIM:619752 5 5 1.0000 condition_record_support_limited 20 0 2 Hyper-IgE_recurrent_infection_syndrome_4A,_autosomal_dominant 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL36RN mondo_mondo_0013626_medgen_c0392439_omim_614204_orphanet_163931 Acrodermatitis continua suppurativa of Hallopeau MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931 5 5 1.0000 condition_record_support_limited 20 0 2 Acrodermatitis_continua_suppurativa_of_Hallopeau 13 low_record_burden_interpretation_limited low_record_burden_gene IL17RC mondo_mondo_0014642_medgen_c4225324_omim_616445_orphanet_1334 Candidiasis, familial, 9 MONDO:MONDO:0014642,MedGen:C4225324,OMIM:616445,Orphanet:1334 5 5 1.0000 condition_record_support_limited 20 0 1 Candidiasis,_familial,_9 6 low_record_burden_interpretation_limited low_record_burden_gene IHH mondo_mondo_0011907_medgen_c1843096_omim_607778_orphanet_63446 Acrocapitofemoral dysplasia MONDO:MONDO:0011907,MedGen:C1843096,OMIM:607778,Orphanet:63446 5 5 1.0000 condition_record_support_limited 20 0 3 Acrocapitofemoral_dysplasia 48 compact_adjacent_exon_block_opportunity local_compact_architecture IGFALS mondo_mondo_0014420_medgen_c3900122_omim_615961_orphanet_140941 Short stature due to primary acid-labile subunit deficiency MONDO:MONDO:0014420,MedGen:C3900122,OMIM:615961,Orphanet:140941 5 5 1.0000 condition_record_support_limited 20 0 0 Short_stature_due_to_primary_acid-labile_subunit_deficiency 11 low_record_burden_interpretation_limited low_record_burden_gene IGF1R mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT74 mondo_mondo_0014926_medgen_c5561936_omim_617119 Bardet-Biedl syndrome 22 MONDO:MONDO:0014926,MedGen:C5561936,OMIM:617119 5 5 1.0000 condition_record_support_limited 20 0 2 Bardet-Biedl_syndrome_22 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT27 mondo_mondo_0014447_medgen_c3889475_omim_615996_orphanet_110 Bardet-Biedl syndrome 19 MONDO:MONDO:0014447,MedGen:C3889475,OMIM:615996,Orphanet:110 5 5 1.0000 condition_record_support_limited 20 0 4 Bardet-Biedl_syndrome_19 14 low_record_burden_interpretation_limited low_record_burden_gene IFT172 medgen_c4017084 Short-rib thoracic dysplasia 10 without polydactyly MedGen:C4017084 5 5 1.0000 condition_record_support_limited 20 0 3 Short-rib_thoracic_dysplasia_10_without_polydactyly 157 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture IDH1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided|not_specified 6 low_record_burden_interpretation_limited low_record_burden_gene HTT condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene HSD3B7 hsd3b7_related_disorder HSD3B7-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 HSD3B7-related_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSD17B4 hsd17b4_related_disorder HSD17B4-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 HSD17B4-related_disorder 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSD17B10 condition_not_provided condition not provided .|MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 See_cases|not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene HRURF mondo_mondo_0100522_medgen_c2750815_omim_146550_orphanet_444 Hypotrichosis 4 MONDO:MONDO:0100522,MedGen:C2750815,OMIM:146550,Orphanet:444 5 5 1.0000 condition_record_support_limited 20 0 0 Hypotrichosis_4 9 low_record_burden_interpretation_limited low_record_burden_gene HRAS mondo_mondo_0024291_medgen_c0158570 Vascular malformation MONDO:MONDO:0024291,MedGen:C0158570 5 5 1.0000 condition_record_support_limited 20 0 2 Vascular_malformation 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS mondo_mondo_0023644_medgen_c0220641 Lip and oral cavity carcinoma MONDO:MONDO:0023644,MedGen:C0220641 5 5 1.0000 condition_record_support_limited 20 0 5 Lip_and_oral_cavity_carcinoma 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HR mondo_mondo_0100522_medgen_c2750815_omim_146550_orphanet_444 Hypotrichosis 4 MONDO:MONDO:0100522,MedGen:C2750815,OMIM:146550,Orphanet:444 5 5 1.0000 condition_record_support_limited 20 0 0 Hypotrichosis_4 33 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture HPGD mondo_mondo_0007343_medgen_c0345408_omim_119900_orphanet_217059 Isolated congenital digital clubbing MONDO:MONDO:0007343,MedGen:C0345408,OMIM:119900,Orphanet:217059 5 5 1.0000 condition_record_support_limited 20 0 5 Isolated_congenital_digital_clubbing 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPDL mondo_mondo_0033614_medgen_c5436637_omim_619027_orphanet_631076 Spastic paraplegia 83, autosomal recessive MONDO:MONDO:0033614,MedGen:C5436637,OMIM:619027,Orphanet:631076 5 5 1.0000 condition_record_support_limited 20 0 3 Spastic_paraplegia_83,_autosomal_recessive 48 single_exon_hotspot_opportunity local_compact_architecture HOMER2 mondo_mondo_0014740_medgen_c4225240_omim_616707_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 68 MONDO:MONDO:0014740,MedGen:C4225240,OMIM:616707,Orphanet:90635 5 5 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_nonsyndromic_hearing_loss_68 5 low_record_burden_interpretation_limited low_record_burden_gene HNRNPH1 mondo_mondo_0859301_medgen_c5774235_omim_620083_orphanet_662207 Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects MONDO:MONDO:0859301,MedGen:C5774235,OMIM:620083,Orphanet:662207 5 5 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_craniofacial_dysmorphism_and_skeletal_defects 9 low_record_burden_interpretation_limited low_record_burden_gene HMGCS2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 5 not_provided 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMGCS1 mondo_mondo_0980756_medgen_cn380447_omim_621433 Congenital myopathy 28 with rigid spine MONDO:MONDO:0980756,MedGen:CN380447,OMIM:621433 5 5 1.0000 condition_record_support_limited 20 0 5 Congenital_myopathy_28_with_rigid_spine 7 low_record_burden_interpretation_limited low_record_burden_gene HMGCR mondo_mondo_0957270_medgen_c5830518_omim_620375_orphanet_653725 Muscular dystrophy, limb-girdle, autosomal recessive 28 MONDO:MONDO:0957270,MedGen:C5830518,OMIM:620375,Orphanet:653725 5 5 1.0000 condition_record_support_limited 20 0 3 Muscular_dystrophy,_limb-girdle,_autosomal_recessive_28 7 low_record_burden_interpretation_limited low_record_burden_gene HMBS mondo_mondo_0958224_medgen_c5935574_omim_620704 Encephalopathy, porphyria-related MONDO:MONDO:0958224,MedGen:C5935574,OMIM:620704 5 5 1.0000 condition_record_support_limited 20 0 4 Encephalopathy,_porphyria-related 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HK1 mondo_mondo_0044320_medgen_c4479526_omim_617460 Retinitis pigmentosa 79 MONDO:MONDO:0044320,MedGen:C4479526,OMIM:617460 5 5 1.0000 condition_record_support_limited 20 0 4 Retinitis_pigmentosa_79 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HK1 mondo_mondo_0011534_medgen_c1854449_omim_605285_orphanet_99953 Charcot-Marie-Tooth disease type 4G MONDO:MONDO:0011534,MedGen:C1854449,OMIM:605285,Orphanet:99953 5 5 1.0000 condition_record_support_limited 20 0 3 Charcot-Marie-Tooth_disease_type_4G 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HINT1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HID1 mondo_mondo_0031028_medgen_c5774190_omim_619983 Developmental and epileptic encephalopathy 105 with hypopituitarism MONDO:MONDO:0031028,MedGen:C5774190,OMIM:619983 5 5 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy_105_with_hypopituitarism 9 low_record_burden_interpretation_limited low_record_burden_gene HGD hgd_related_disorder HGD-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 HGD-related_disorder 270 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEPACAM mondo_mondo_0013491_medgen_c3151356_omim_613926_orphanet_2478 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability MONDO:MONDO:0013491,MedGen:C3151356,OMIM:613926,Orphanet:2478 5 5 1.0000 condition_record_support_limited 20 0 4 Megalencephalic_leukoencephalopathy_with_subcortical_cysts_2B,_remitting,_with_or_without_intellectual_disability 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEATR3 mondo_mondo_0031071_medgen_c5774230_omim_620072 Diamond-Blackfan anemia 21 MONDO:MONDO:0031071,MedGen:C5774230,OMIM:620072 5 5 1.0000 condition_record_support_limited 20 0 5 Diamond-Blackfan_anemia_21 5 low_record_burden_interpretation_limited low_record_burden_gene HDAC4 mondo_mondo_0859232_medgen_c5676944_omim_619797 Neurodevelopmental disorder with central hypotonia and dysmorphic facies MONDO:MONDO:0859232,MedGen:C5676944,OMIM:619797 5 5 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_central_hypotonia_and_dysmorphic_facies 12 low_record_burden_interpretation_limited low_record_burden_gene HCN4 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 5 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HCN4 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 5 5 1.0000 condition_record_support_limited 20 0 5 Cardiovascular_phenotype 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HBG2 mondo_mondo_0020989_medgen_c0019025_omim_141749 Hereditary persistence of fetal hemoglobin MONDO:MONDO:0020989,MedGen:C0019025,OMIM:141749 5 5 1.0000 condition_record_support_limited 20 0 0 Hereditary_persistence_of_fetal_hemoglobin 11 low_record_burden_interpretation_limited low_record_burden_gene HBG2 mondo_mondo_0013511_medgen_c3151421_omim_613977_orphanet_280615 Cyanosis, transient neonatal MONDO:MONDO:0013511,MedGen:C3151421,OMIM:613977,Orphanet:280615 5 5 1.0000 condition_record_support_limited 20 0 3 Cyanosis,_transient_neonatal 11 low_record_burden_interpretation_limited low_record_burden_gene HAX1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HACD1 mondo_mondo_0859264_medgen_c3151531_omim_619967 Congenital myopathy 11 MONDO:MONDO:0859264,MedGen:C3151531,OMIM:619967 5 5 1.0000 condition_record_support_limited 20 0 1 Congenital_myopathy_11 14 low_record_burden_interpretation_limited low_record_burden_gene H6PD mondo_mondo_0011503_medgen_c3551716_omim_604931_orphanet_168588 Cortisone reductase deficiency 1 MONDO:MONDO:0011503,MedGen:C3551716,OMIM:604931,Orphanet:168588 5 5 1.0000 condition_record_support_limited 20 0 1 Cortisone_reductase_deficiency_1 6 low_record_burden_interpretation_limited low_record_burden_gene H4C5 mondo_mondo_0030993_medgen_c5774310_omim_619950 Tessadori-Van Haaften neurodevelopmental syndrome 3 MONDO:MONDO:0030993,MedGen:C5774310,OMIM:619950 5 5 1.0000 condition_record_support_limited 20 0 1 Tessadori-Van_Haaften_neurodevelopmental_syndrome_3 9 low_record_burden_interpretation_limited low_record_burden_gene H3-3B condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GYS1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 5 not_provided 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2C mondo_mondo_0013825_medgen_c3553270_omim_614616_orphanet_314373 Congenital diarrhea 6 MONDO:MONDO:0013825,MedGen:C3553270,OMIM:614616,Orphanet:314373 5 5 1.0000 condition_record_support_limited 20 0 1 Congenital_diarrhea_6 13 low_record_burden_interpretation_limited low_record_burden_gene GUCY1A1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene GSR mondo_mondo_0019531_medgen_c5231513_omim_618660_orphanet_90030 Hemolytic anemia due to glutathione reductase deficiency MONDO:MONDO:0019531,MedGen:C5231513,OMIM:618660,Orphanet:90030 5 5 1.0000 condition_record_support_limited 20 0 0 Hemolytic_anemia_due_to_glutathione_reductase_deficiency 6 low_record_burden_interpretation_limited low_record_burden_gene GSDME mondo_mondo_0010973_medgen_c1832932_omim_600994_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 5 MONDO:MONDO:0010973,MedGen:C1832932,OMIM:600994,Orphanet:90635 5 5 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_nonsyndromic_hearing_loss_5 7 low_record_burden_interpretation_limited low_record_burden_gene GRIN2D condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene GRIN1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN1 mondo_mondo_0030727_medgen_c5676955_omim_619814 Developmental and epileptic encephalopathy 101 MONDO:MONDO:0030727,MedGen:C5676955,OMIM:619814 5 5 1.0000 condition_record_support_limited 20 0 3 Developmental_and_epileptic_encephalopathy_101 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIK2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene GRIK2 mondo_mondo_0859201_medgen_c5562006_omim_619580 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures MONDO:MONDO:0859201,MedGen:C5562006,OMIM:619580 5 5 1.0000 condition_record_support_limited 20 0 3 Neurodevelopmental_disorder_with_impaired_language_and_ataxia_and_with_or_without_seizures 13 low_record_burden_interpretation_limited low_record_burden_gene GRID2 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 2 See_cases|not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene GRID2 mondo_mondo_0014530_medgen_c4015505_omim_616204_orphanet_363432 Autosomal recessive spinocerebellar ataxia 18 MONDO:MONDO:0014530,MedGen:C4015505,OMIM:616204,Orphanet:363432 5 5 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_spinocerebellar_ataxia_18 10 low_record_burden_interpretation_limited low_record_burden_gene GRIA4 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 1.0000 condition_record_support_limited 20 0 5 Intellectual_disability 11 low_record_burden_interpretation_limited low_record_burden_gene GRIA1 mondo_mondo_0030964_medgen_c5677006_omim_619927 Intellectual developmental disorder, autosomal dominant 67 MONDO:MONDO:0030964,MedGen:C5677006,OMIM:619927 5 5 1.0000 condition_record_support_limited 20 0 2 Intellectual_developmental_disorder,_autosomal_dominant_67 8 low_record_burden_interpretation_limited low_record_burden_gene GRHL3 mondo_mondo_0007336_medgen_c1837218_omim_119540_orphanet_2014 Isolated cleft palate MONDO:MONDO:0007336,MedGen:C1837218,OMIM:119540,Orphanet:2014 5 5 1.0000 condition_record_support_limited 20 0 0 Isolated_cleft_palate 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPSM2 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 5 5 1.0000 condition_record_support_limited 20 0 4 Rare_genetic_deafness 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPR156 mondo_mondo_0957825_medgen_c5882709_omim_620551 Hearing loss, autosomal recessive 121 MONDO:MONDO:0957825,MedGen:C5882709,OMIM:620551 5 5 1.0000 condition_record_support_limited 20 0 2 Hearing_loss,_autosomal_recessive_121 5 low_record_burden_interpretation_limited low_record_burden_gene GPD1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 0 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP6 mondo_mondo_0013623_medgen_c3280120_omim_614201_orphanet_73271_orphanet_98885 Platelet-type bleeding disorder 11 MONDO:MONDO:0013623,MedGen:C3280120,OMIM:614201,Orphanet:73271,Orphanet:98885 5 5 1.0000 condition_record_support_limited 20 0 2 Platelet-type_bleeding_disorder_11 19 low_record_burden_interpretation_limited low_record_burden_gene GP1BB human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 5 5 1.0000 condition_record_support_limited 20 0 5 Thrombocytopenia 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP1BA medgen_c3278148 Bernard-Soulier syndrome, type A1 MedGen:C3278148 5 5 1.0000 condition_record_support_limited 20 0 3 Bernard-Soulier_syndrome,_type_A1 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GOSR2 mondo_mondo_0859336_medgen_c5774274_omim_620166 Muscular dystrophy, congenital, with or without seizures MONDO:MONDO:0859336,MedGen:C5774274,OMIM:620166 5 5 1.0000 condition_record_support_limited 20 0 5 Muscular_dystrophy,_congenital,_with_or_without_seizures 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GOLGA2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene GNRHR human_phenotype_ontology_hp_0000044_human_phenotype_ontology_hp_0003335_human_phenotype_ontology_hp_0008224_mondo_mondo_0018555_medgen_c0271623_omim_ps147950_orphanet_432 Hypogonadotropic hypogonadism Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432 5 5 1.0000 condition_record_support_limited 20 0 5 Hypogonadotropic_hypogonadism 43 compact_adjacent_exon_block_opportunity local_compact_architecture GNB5 gnb5_related_disorder GNB5-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 1 GNB5-related_disorder 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene GNAT2 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAO1 gnao1_related_disorder GNAO1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 GNAO1-related_disorder 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAL condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNA11 mondo_mondo_0007792_medgen_c1840347_omim_145981_orphanet_101049_orphanet_405 Familial hypocalciuric hypercalcemia 2 MONDO:MONDO:0007792,MedGen:C1840347,OMIM:145981,Orphanet:101049,Orphanet:405 5 5 1.0000 condition_record_support_limited 20 0 3 Familial_hypocalciuric_hypercalcemia_2 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GMPPB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GMPPA condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene GLUL mondo_mondo_0970945_medgen_c5935615_omim_620806 Developmental and epileptic encephalopathy 116 MONDO:MONDO:0970945,MedGen:C5935615,OMIM:620806 5 5 1.0000 condition_record_support_limited 20 0 2 Developmental_and_epileptic_encephalopathy_116 13 low_record_burden_interpretation_limited low_record_burden_gene GLS mondo_mondo_0032678_medgen_c5193030_omim_618328_orphanet_557064 Developmental and epileptic encephalopathy, 71 MONDO:MONDO:0032678,MedGen:C5193030,OMIM:618328,Orphanet:557064 5 5 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_71 18 low_record_burden_interpretation_limited low_record_burden_gene GLRX5 mondo_mondo_0014804_medgen_c4225155_omim_616860_orphanet_255132 Sideroblastic anemia 3 MONDO:MONDO:0014804,MedGen:C4225155,OMIM:616860,Orphanet:255132 5 5 1.0000 condition_record_support_limited 20 0 0 Sideroblastic_anemia_3 9 low_record_burden_interpretation_limited low_record_burden_gene GLRA2 condition_not_provided condition not provided .|MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 2 See_cases|not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene GLMN mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLMN glmn_related_disorder GLMN-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 GLMN-related_disorder 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI2 mondo_mondo_0017219_medgen_c5393309_orphanet_280200 Microform holoprosencephaly MONDO:MONDO:0017219,MedGen:C5393309,Orphanet:280200 5 5 1.0000 condition_record_support_limited 20 0 1 Microform_holoprosencephaly 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI1 mondo_mondo_0029130_medgen_c4748277_omim_618123 Polydactyly, postaxial, type A8 MONDO:MONDO:0029130,MedGen:C4748277,OMIM:618123 5 5 1.0000 condition_record_support_limited 20 0 0 Polydactyly,_postaxial,_type_A8 10 low_record_burden_interpretation_limited low_record_burden_gene GLB1 medgen_c1968748 GM1-gangliosidosis, type I, with cardiac involvement MedGen:C1968748 5 5 1.0000 condition_record_support_limited 20 0 4 GM1-gangliosidosis,_type_I,_with_cardiac_involvement 322 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLA human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 5 5 1.0000 condition_record_support_limited 20 0 5 Cardiomyopathy 1115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJC2 mondo_mondo_0013278_medgen_c4747646_omim_613480_orphanet_79452 Lymphatic malformation 3 MONDO:MONDO:0013278,MedGen:C4747646,OMIM:613480,Orphanet:79452 5 5 1.0000 condition_record_support_limited 20 0 2 Lymphatic_malformation_3 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB6 human_phenotype_ontology_hp_0007529_mondo_mondo_0007510_medgen_c0162361_omim_129500_orphanet_189 Hidrotic ectodermal dysplasia syndrome Human_Phenotype_Ontology:HP:0007529,MONDO:MONDO:0007510,MedGen:C0162361,OMIM:129500,Orphanet:189 5 5 1.0000 condition_record_support_limited 20 0 4 Hidrotic_ectodermal_dysplasia_syndrome 10 low_record_burden_interpretation_limited low_record_burden_gene GJB4 mondo_mondo_0033012_medgen_c4479618_omim_617524 Erythrokeratodermia variabilis et progressiva 2 MONDO:MONDO:0033012,MedGen:C4479618,OMIM:617524 5 5 1.0000 condition_record_support_limited 20 0 3 Erythrokeratodermia_variabilis_et_progressiva_2 5 low_record_burden_interpretation_limited low_record_burden_gene GJB3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene GJB3 mondo_mondo_0033010_medgen_c4551486_omim_133200_orphanet_317 Erythrokeratodermia variabilis et progressiva 1 MONDO:MONDO:0033010,MedGen:C4551486,OMIM:133200,Orphanet:317 5 5 1.0000 condition_record_support_limited 20 0 2 Erythrokeratodermia_variabilis_et_progressiva_1 11 low_record_burden_interpretation_limited low_record_burden_gene GJB2 mesh_c537845_medgen_c1842137 nonsyndromic sensorineural hearing loss MeSH:C537845,MedGen:C1842137 5 5 1.0000 condition_record_support_limited 20 0 5 nonsyndromic_sensorineural_hearing_loss 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 mesh_c580334_medgen_c3711374 Nonsyndromic Deafness MeSH:C580334,MedGen:C3711374 5 5 1.0000 condition_record_support_limited 20 0 5 Nonsyndromic_Deafness 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 mondo_mondo_0019272_medgen_c0406757_orphanet_79357 Hereditary palmoplantar keratoderma MONDO:MONDO:0019272,MedGen:C0406757,Orphanet:79357 5 5 1.0000 condition_record_support_limited 20 0 5 Hereditary_palmoplantar_keratoderma 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GHRHR mondo_mondo_0013006_medgen_c2748571_omim_612781_orphanet_231671_orphanet_631 Isolated growth hormone deficiency type IB MONDO:MONDO:0013006,MedGen:C2748571,OMIM:612781,Orphanet:231671,Orphanet:631 5 5 1.0000 condition_record_support_limited 20 0 1 Isolated_growth_hormone_deficiency_type_IB 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GHR mondo_mondo_0011420_medgen_c1858656_omim_604271_orphanet_314802_orphanet_314811 Short stature due to partial GHR deficiency MONDO:MONDO:0011420,MedGen:C1858656,OMIM:604271,Orphanet:314802,Orphanet:314811 5 5 1.0000 condition_record_support_limited 20 0 4 Short_stature_due_to_partial_GHR_deficiency 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GH1 mondo_mondo_0009876_medgen_c0342573_omim_262400_orphanet_231662_orphanet_631 Ateleiotic dwarfism MONDO:MONDO:0009876,MedGen:C0342573,OMIM:262400,Orphanet:231662,Orphanet:631 5 5 1.0000 condition_record_support_limited 20 0 2 Ateleiotic_dwarfism 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GFPT1 mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 Congenital myasthenic syndrome MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 5 5 1.0000 condition_record_support_limited 20 0 3 Congenital_myasthenic_syndrome 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GFM2 condition_not_provided condition not provided .|MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 See_cases|not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene GEMIN5 gemin5_related_disorder GEMIN5-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 2 GEMIN5-related_disorder 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDF9 mondo_mondo_0044777_medgen_c4693941_omim_618014 Premature ovarian failure 14 MONDO:MONDO:0044777,MedGen:C4693941,OMIM:618014 5 5 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure_14 6 low_record_burden_interpretation_limited low_record_burden_gene GDF5 human_phenotype_ontology_hp_0009372_mondo_mondo_0007216_medgen_c1832702_omim_112600_orphanet_93396 Type A2 brachydactyly Human_Phenotype_Ontology:HP:0009372,MONDO:MONDO:0007216,MedGen:C1832702,OMIM:112600,Orphanet:93396 5 5 1.0000 condition_record_support_limited 20 0 5 Type_A2_brachydactyly 52 compact_adjacent_exon_block_opportunity local_compact_architecture GDF5 mondo_mondo_0012394_medgen_c1832708_omim_610017_orphanet_3237 Multiple synostoses syndrome 2 MONDO:MONDO:0012394,MedGen:C1832708,OMIM:610017,Orphanet:3237 5 5 1.0000 condition_record_support_limited 20 0 5 Multiple_synostoses_syndrome_2 52 compact_adjacent_exon_block_opportunity local_compact_architecture GDF5 mondo_mondo_0009231_medgen_c1856738_omim_228900_orphanet_2639 Acromesomelic dysplasia 2B MONDO:MONDO:0009231,MedGen:C1856738,OMIM:228900,Orphanet:2639 5 5 1.0000 condition_record_support_limited 20 0 3 Acromesomelic_dysplasia_2B 52 compact_adjacent_exon_block_opportunity local_compact_architecture GDAP2 mondo_mondo_0032706_medgen_c5193058_omim_618369 Spinocerebellar ataxia, autosomal recessive 27 MONDO:MONDO:0032706,MedGen:C5193058,OMIM:618369 5 5 1.0000 condition_record_support_limited 20 0 0 Spinocerebellar_ataxia,_autosomal_recessive_27 8 low_record_burden_interpretation_limited low_record_burden_gene GCK human_phenotype_ontology_hp_0009800_mondo_mondo_0005406_medgen_c0085207 Gestational diabetes Human_Phenotype_Ontology:HP:0009800,MONDO:MONDO:0005406,MedGen:C0085207 5 5 1.0000 condition_record_support_limited 20 0 4 Gestational_diabetes 655 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCH1 mondo_mondo_0100186_medgen_cn305333_omim_233910_orphanet_2102_orphanet_238583 GTP cyclohydrolase I deficiency with hyperphenylalaninemia MONDO:MONDO:0100186,MedGen:CN305333,OMIM:233910,Orphanet:2102,Orphanet:238583 5 5 1.0000 condition_record_support_limited 20 0 2 GTP_cyclohydrolase_I_deficiency_with_hyperphenylalaninemia 113 compact_adjacent_exon_block_opportunity local_compact_architecture GCGR mondo_mondo_0018582_medgen_c4763635_omim_619290_orphanet_438274 GCGR-related hyperglucagonemia MONDO:MONDO:0018582,MedGen:C4763635,OMIM:619290,Orphanet:438274 5 5 1.0000 condition_record_support_limited 20 0 0 GCGR-related_hyperglucagonemia 5 low_record_burden_interpretation_limited low_record_burden_gene GCDH mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 324 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBE1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBE1 medgen_c4017118 Adult polyglucosan body neuropathy MedGen:C4017118 5 5 1.0000 condition_record_support_limited 20 0 5 Adult_polyglucosan_body_neuropathy 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA5 mondo_mondo_0060663_medgen_c4693563_omim_617912 Congenital heart defects, multiple types, 5 MONDO:MONDO:0060663,MedGen:C4693563,OMIM:617912 5 5 1.0000 condition_record_support_limited 20 0 0 Congenital_heart_defects,_multiple_types,_5 5 low_record_burden_interpretation_limited low_record_burden_gene GATA3 gata3_related_disorder GATA3-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 3 GATA3-related_disorder 109 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA2 mondo_mondo_0100173_medgen_c3275959 Leukemia, acute myeloid, susceptibility to MONDO:MONDO:0100173,MedGen:C3275959 5 5 1.0000 condition_record_support_limited 20 0 5 Leukemia,_acute_myeloid,_susceptibility_to 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA2 gata2_related_disorder GATA2-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 GATA2-related_disorder 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAN condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 5 5 1.0000 condition_record_support_limited 20 5 2 See_cases|not_provided|not_specified 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRB3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRB1 mondo_mondo_0014942_medgen_c4310691_omim_617153 Developmental and epileptic encephalopathy, 45 MONDO:MONDO:0014942,MedGen:C4310691,OMIM:617153 5 5 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_45 5 low_record_burden_interpretation_limited low_record_burden_gene GABRA5 mondo_mondo_0032813_medgen_c5231410_omim_618559 Developmental and epileptic encephalopathy, 79 MONDO:MONDO:0032813,MedGen:C5231410,OMIM:618559 5 5 1.0000 condition_record_support_limited 20 0 3 Developmental_and_epileptic_encephalopathy,_79 6 low_record_burden_interpretation_limited low_record_burden_gene GABBR1 mondo_mondo_0957779_medgen_c5882689_omim_620502 Neurodevelopmental disorder with language delay and variable cognitive abnormalities MONDO:MONDO:0957779,MedGen:C5882689,OMIM:620502 5 5 1.0000 condition_record_support_limited 20 0 4 Neurodevelopmental_disorder_with_language_delay_and_variable_cognitive_abnormalities 7 low_record_burden_interpretation_limited low_record_burden_gene FZD4 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 1.0000 condition_record_support_limited 20 0 4 Retinal_dystrophy 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FYCO1 fyco1_related_disorder FYCO1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 1 FYCO1-related_disorder 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FTH1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 5 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene FTH1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 1.0000 condition_record_support_limited 20 0 5 Retinal_dystrophy 11 low_record_burden_interpretation_limited low_record_burden_gene FTH1 mondo_mondo_0012733_medgen_c3888198_omim_611809_orphanet_139455 Autosomal recessive bestrophinopathy MONDO:MONDO:0012733,MedGen:C3888198,OMIM:611809,Orphanet:139455 5 5 1.0000 condition_record_support_limited 20 0 3 Autosomal_recessive_bestrophinopathy 11 low_record_burden_interpretation_limited low_record_burden_gene FSHB mondo_mondo_0009239_medgen_c5574957_omim_229070_orphanet_52901 Hypogonadotropic hypogonadism 24 without anosmia MONDO:MONDO:0009239,MedGen:C5574957,OMIM:229070,Orphanet:52901 5 5 1.0000 condition_record_support_limited 20 0 1 Hypogonadotropic_hypogonadism_24_without_anosmia 5 low_record_burden_interpretation_limited low_record_burden_gene FRMPD4 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 0 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXRED1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP3 foxp3_related_disorder FOXP3-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 2 FOXP3-related_disorder 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXL2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 174 single_exon_hotspot_opportunity local_compact_architecture FOXE3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 33 single_exon_hotspot_opportunity local_compact_architecture FOXC2 foxc2_related_disorder FOXC2-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 0 FOXC2-related_disorder 57 single_exon_hotspot_opportunity local_compact_architecture FOXC1 foxc1_related_disorder FOXC1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 2 FOXC1-related_disorder 150 single_exon_hotspot_opportunity local_compact_architecture FOSL2 mondo_mondo_0968978_medgen_c5935608_omim_620789_orphanet_697356 Aplasia cutis-enamel dysplasia syndrome MONDO:MONDO:0968978,MedGen:C5935608,OMIM:620789,Orphanet:697356 5 5 1.0000 condition_record_support_limited 20 0 0 Aplasia_cutis-enamel_dysplasia_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene FLVCR1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 5 5 1.0000 condition_record_support_limited 20 0 5 Retinitis_pigmentosa 59 compact_adjacent_exon_block_opportunity local_compact_architecture FLNA mondo_mondo_0010279_medgen_c1846129_omim_300244_orphanet_88630 Terminal osseous dysplasia-pigmentary defects syndrome MONDO:MONDO:0010279,MedGen:C1846129,OMIM:300244,Orphanet:88630 5 5 1.0000 condition_record_support_limited 20 0 5 Terminal_osseous_dysplasia-pigmentary_defects_syndrome 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FKBP6 mondo_mondo_0031083_medgen_c5774245_omim_620103 Spermatogenic failure 77 MONDO:MONDO:0031083,MedGen:C5774245,OMIM:620103 5 5 1.0000 condition_record_support_limited 20 0 5 Spermatogenic_failure_77 5 low_record_burden_interpretation_limited low_record_burden_gene FKBP6 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 5 5 1.0000 condition_record_support_limited 20 0 5 Male_infertility 5 low_record_burden_interpretation_limited low_record_burden_gene FIGLA mondo_mondo_0012861_medgen_c2676742_omim_612310 Premature ovarian failure 6 MONDO:MONDO:0012861,MedGen:C2676742,OMIM:612310 5 5 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure_6 6 low_record_burden_interpretation_limited low_record_burden_gene FGFR3 mondo_mondo_0005447_medgen_c0153594 Malignant tumor of testis MONDO:MONDO:0005447,MedGen:C0153594 5 5 1.0000 condition_record_support_limited 20 0 5 Malignant_tumor_of_testis 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 5 5 1.0000 condition_record_support_limited 20 0 5 Connective_tissue_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 human_phenotype_ontology_hp_0000044_human_phenotype_ontology_hp_0003335_human_phenotype_ontology_hp_0008224_mondo_mondo_0018555_medgen_c0271623_omim_ps147950_orphanet_432 Hypogonadotropic hypogonadism Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432 5 5 1.0000 condition_record_support_limited 20 0 3 Hypogonadotropic_hypogonadism 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 human_phenotype_ontology_hp_0000823_human_phenotype_ontology_hp_0008859_human_phenotype_ontology_hp_0010466_human_phenotype_ontology_hp_0010467_medgen_c0034012 Delayed puberty Human_Phenotype_Ontology:HP:0000823,Human_Phenotype_Ontology:HP:0008859,Human_Phenotype_Ontology:HP:0010466,Human_Phenotype_Ontology:HP:0010467,MedGen:C0034012 5 5 1.0000 condition_record_support_limited 20 0 5 Delayed_puberty 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGF23 mondo_mondo_0060714_medgen_c4693863_omim_617993 Tumoral calcinosis, hyperphosphatemic, familial, 2 MONDO:MONDO:0060714,MedGen:C4693863,OMIM:617993 5 5 1.0000 condition_record_support_limited 20 0 4 Tumoral_calcinosis,_hyperphosphatemic,_familial,_2 13 low_record_burden_interpretation_limited low_record_burden_gene FGF14 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene FGF10 mondo_mondo_0008397_medgen_c0158667_omim_180920_orphanet_86815 Congenital absence of salivary gland MONDO:MONDO:0008397,MedGen:C0158667,OMIM:180920,Orphanet:86815 5 5 1.0000 condition_record_support_limited 20 0 3 Congenital_absence_of_salivary_gland 25 compact_adjacent_exon_block_opportunity local_compact_architecture FECH fech_related_disorder FECH-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 3 FECH-related_disorder 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FCSK mondo_mondo_0020777_medgen_c5193028_omim_618324 Congenital disorder of glycosylation with defective fucosylation 2 MONDO:MONDO:0020777,MedGen:C5193028,OMIM:618324 5 5 1.0000 condition_record_support_limited 20 0 0 Congenital_disorder_of_glycosylation_with_defective_fucosylation_2 5 low_record_burden_interpretation_limited low_record_burden_gene FBN1 mondo_mondo_0024559_medgen_c0345050_omim_607086_orphanet_229 Congenital aneurysm of ascending aorta MONDO:MONDO:0024559,MedGen:C0345050,OMIM:607086,Orphanet:229 5 5 1.0000 condition_record_support_limited 20 0 5 Congenital_aneurysm_of_ascending_aorta 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 medgen_c0241868 Acute aortic dissection MedGen:C0241868 5 5 1.0000 condition_record_support_limited 20 0 5 Acute_aortic_dissection 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FAT1 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 5 5 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome 38 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FASTKD5 mondo_mondo_0980755_medgen_cn380446_omim_621431 Mitochondrial complex IV deficiency, nuclear type 24 MONDO:MONDO:0980755,MedGen:CN380446,OMIM:621431 5 5 1.0000 condition_record_support_limited 20 0 5 Mitochondrial_complex_IV_deficiency,_nuclear_type_24 5 low_record_burden_interpretation_limited low_record_burden_gene FASTKD5 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 5 5 1.0000 condition_record_support_limited 20 0 5 Leigh_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene FASLG mondo_mondo_0011158_medgen_c1328840_omim_601859_orphanet_3261 Autoimmune lymphoproliferative syndrome type 1 MONDO:MONDO:0011158,MedGen:C1328840,OMIM:601859,Orphanet:3261 5 5 1.0000 condition_record_support_limited 20 0 2 Autoimmune_lymphoproliferative_syndrome_type_1 6 low_record_burden_interpretation_limited low_record_burden_gene FARSB human_phenotype_ontology_hp_0002617_medgen_c0002940 Vascular dilatation Human_Phenotype_Ontology:HP:0002617,MedGen:C0002940 5 5 1.0000 condition_record_support_limited 20 0 5 Vascular_dilatation 13 low_record_burden_interpretation_limited low_record_burden_gene FARSB human_phenotype_ontology_hp_0006515_medgen_c0206061 Interstitial pneumonitis Human_Phenotype_Ontology:HP:0006515,MedGen:C0206061 5 5 1.0000 condition_record_support_limited 20 0 5 Interstitial_pneumonitis 13 low_record_burden_interpretation_limited low_record_burden_gene FARSB human_phenotype_ontology_hp_0001394_mondo_mondo_0005155_medgen_c0023890 Cirrhosis of liver Human_Phenotype_Ontology:HP:0001394,MONDO:MONDO:0005155,MedGen:C0023890 5 5 1.0000 condition_record_support_limited 20 0 5 Cirrhosis_of_liver 13 low_record_burden_interpretation_limited low_record_burden_gene FARSB human_phenotype_ontology_hp_0002502_human_phenotype_ontology_hp_0002514_human_phenotype_ontology_hp_0005806_human_phenotype_ontology_hp_0006848_medgen_c0270685 Cerebral calcification Human_Phenotype_Ontology:HP:0002502,Human_Phenotype_Ontology:HP:0002514,Human_Phenotype_Ontology:HP:0005806,Human_Phenotype_Ontology:HP:0006848,MedGen:C0270685 5 5 1.0000 condition_record_support_limited 20 0 5 Cerebral_calcification 13 low_record_burden_interpretation_limited low_record_burden_gene FAR1 mondo_mondo_0014510_medgen_c4015344_omim_616154_orphanet_438178 Fatty acyl-CoA reductase 1 deficiency MONDO:MONDO:0014510,MedGen:C4015344,OMIM:616154,Orphanet:438178 5 5 1.0000 condition_record_support_limited 20 0 1 Fatty_acyl-CoA_reductase_1_deficiency 15 low_record_burden_interpretation_limited low_record_burden_gene FAR1 medgen_c5543440_omim_619338 CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY MedGen:C5543440,OMIM:619338 5 5 1.0000 condition_record_support_limited 20 0 4 CATARACTS,_SPASTIC_PARAPARESIS,_AND_SPEECH_DELAY 15 low_record_burden_interpretation_limited low_record_burden_gene FANCG fancg_related_disorder FANCG-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 FANCG-related_disorder 213 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCF condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 5 5 1.0000 condition_record_support_limited 20 5 5 not_provided|not_specified 57 single_exon_hotspot_opportunity local_compact_architecture FANCD2 fancd2_related_disorder FANCD2-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 FANCD2-related_disorder 279 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAN1 fan1_related_disorder FAN1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 2 FAN1-related_disorder 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAM111B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene F8 human_phenotype_ontology_hp_0001928_medgen_c1846821 Abnormality of coagulation Human_Phenotype_Ontology:HP:0001928,MedGen:C1846821 5 5 1.0000 condition_record_support_limited 20 0 5 Abnormality_of_coagulation 641 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture F2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 5 not_provided 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F13A1 f13a1_related_disorder F13A1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 3 F13A1-related_disorder 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F12 mondo_mondo_0012526_medgen_c1857728_omim_610618_orphanet_100054 Hereditary angioedema type 3 MONDO:MONDO:0012526,MedGen:C1857728,OMIM:610618,Orphanet:100054 5 5 1.0000 condition_record_support_limited 20 0 3 Hereditary_angioedema_type_3 19 low_record_burden_interpretation_limited low_record_burden_gene EYS medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 5 5 1.0000 condition_record_support_limited 20 0 4 Autosomal_recessive_retinitis_pigmentosa 1068 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EXOSC5 mondo_mondo_0859200_medgen_c5562005_omim_619576_orphanet_641361 Cerebellar ataxia, brain abnormalities, and cardiac conduction defects MONDO:MONDO:0859200,MedGen:C5562005,OMIM:619576,Orphanet:641361 5 5 1.0000 condition_record_support_limited 20 0 0 Cerebellar_ataxia,_brain_abnormalities,_and_cardiac_conduction_defects 6 low_record_burden_interpretation_limited low_record_burden_gene EXOC6B mondo_mondo_0032724_medgen_c5193073_omim_618395_orphanet_642085 Spondyloepimetaphyseal dysplasia with joint laxity, type 3 MONDO:MONDO:0032724,MedGen:C5193073,OMIM:618395,Orphanet:642085 5 5 1.0000 condition_record_support_limited 20 0 0 Spondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_3 13 low_record_burden_interpretation_limited low_record_burden_gene ETV6 etv6_related_disorder ETV6-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 ETV6-related_disorder 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETFA condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 5 not_provided 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ESRRG human_phenotype_ontology_hp_0001294_human_phenotype_ontology_hp_0100022_mondo_mondo_0005395_medgen_c0026650 Movement disorder Human_Phenotype_Ontology:HP:0001294,Human_Phenotype_Ontology:HP:0100022,MONDO:MONDO:0005395,MedGen:C0026650 5 5 1.0000 condition_record_support_limited 20 0 0 Movement_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene ESRRB medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 5 5 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_deafness 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ESPN condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC6L2 ercc6l2_related_disorder ERCC6L2-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 2 ERCC6L2-related_disorder 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERBB2 mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 5 5 1.0000 condition_record_support_limited 20 0 0 Malignant_tumor_of_urinary_bladder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPHB4 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 5 5 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 135 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPG5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 213 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EPCAM mondo_mondo_0013196_medgen_c2750471_omim_613244_orphanet_144 Lynch syndrome 8 MONDO:MONDO:0013196,MedGen:C2750471,OMIM:613244,Orphanet:144 5 5 1.0000 condition_record_support_limited 20 0 1 Lynch_syndrome_8 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENG medgen_c1832529 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia MedGen:C1832529 5 5 1.0000 condition_record_support_limited 20 0 2 Pulmonary_arterial_hypertension_related_to_hereditary_hemorrhagic_telangiectasia 607 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EMILIN1 human_phenotype_ontology_hp_0005116_medgen_c3279191 Arterial tortuosity Human_Phenotype_Ontology:HP:0005116,MedGen:C3279191 5 5 1.0000 condition_record_support_limited 20 0 4 Arterial_tortuosity 6 low_record_burden_interpretation_limited low_record_burden_gene ELP4 human_phenotype_ontology_hp_0000659_mondo_mondo_0011414_medgen_c0344559_omim_604229_orphanet_708 Irido-corneo-trabecular dysgenesis Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708 5 5 1.0000 condition_record_support_limited 20 0 5 Irido-corneo-trabecular_dysgenesis 19 low_record_burden_interpretation_limited low_record_burden_gene ELP2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene ELOVL4 mondo_mondo_0010819_medgen_c1838644_omim_600110_orphanet_827 Stargardt disease 3 MONDO:MONDO:0010819,MedGen:C1838644,OMIM:600110,Orphanet:827 5 5 1.0000 condition_record_support_limited 20 0 4 Stargardt_disease_3 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELFN1 mondo_mondo_0979898_medgen_cn379912_omim_621344 Dursun-Ozgul neurodevelopmental syndrome MONDO:MONDO:0979898,MedGen:CN379912,OMIM:621344 5 5 1.0000 condition_record_support_limited 20 0 1 Dursun-Ozgul_neurodevelopmental_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene ELF4 condition_not_provided condition not provided .|MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 0 See_cases|not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene EIF2B1 mondo_mondo_0020507_medgen_c5779972_omim_603896_orphanet_99854 Leukoencephalopathy with vanishing white matter 1 MONDO:MONDO:0020507,MedGen:C5779972,OMIM:603896,Orphanet:99854 5 5 1.0000 condition_record_support_limited 20 0 4 Leukoencephalopathy_with_vanishing_white_matter_1 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EGR2 mondo_mondo_0007790_medgen_c0011195_omim_145900_orphanet_64748 Dejerine-Sottas disease MONDO:MONDO:0007790,MedGen:C0011195,OMIM:145900,Orphanet:64748 5 5 1.0000 condition_record_support_limited 20 0 2 Dejerine-Sottas_disease 18 low_record_burden_interpretation_limited low_record_burden_gene EGR2 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 5 5 1.0000 condition_record_support_limited 20 0 5 Charcot-Marie-Tooth_disease 18 low_record_burden_interpretation_limited low_record_burden_gene EFL1 mondo_mondo_0044205_medgen_c4693704_omim_617941 Shwachman-Diamond syndrome 2 MONDO:MONDO:0044205,MedGen:C4693704,OMIM:617941 5 5 1.0000 condition_record_support_limited 20 0 3 Shwachman-Diamond_syndrome_2 5 low_record_burden_interpretation_limited low_record_burden_gene EDAR human_phenotype_ontology_hp_0000968_human_phenotype_ontology_hp_0007436_human_phenotype_ontology_hp_0007615_mondo_mondo_0019287_medgen_c0013575_omim_ps305100_orphanet_79373 Ectodermal dysplasia Human_Phenotype_Ontology:HP:0000968,Human_Phenotype_Ontology:HP:0007436,Human_Phenotype_Ontology:HP:0007615,MONDO:MONDO:0019287,MedGen:C0013575,OMIM:PS305100,Orphanet:79373 5 5 1.0000 condition_record_support_limited 20 0 3 Ectodermal_dysplasia 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EDA human_phenotype_ontology_hp_0007476_medgen_c1706004 Anhidrotic ectodermal dysplasia Human_Phenotype_Ontology:HP:0007476,MedGen:C1706004 5 5 1.0000 condition_record_support_limited 20 0 5 Anhidrotic_ectodermal_dysplasia 276 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNLT2B condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene DYNC2LI1 mondo_mondo_0008831_medgen_c4551856_omim_208500_orphanet_474 Asphyxiating thoracic dystrophy 1 MONDO:MONDO:0008831,MedGen:C4551856,OMIM:208500,Orphanet:474 5 5 1.0000 condition_record_support_limited 20 0 5 Asphyxiating_thoracic_dystrophy_1 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYM mondo_mondo_0011814_medgen_c3888088_omim_607326 Smith-McCort dysplasia 1 MONDO:MONDO:0011814,MedGen:C3888088,OMIM:607326 5 5 1.0000 condition_record_support_limited 20 0 3 Smith-McCort_dysplasia_1 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DVL1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DUOX2 human_phenotype_ontology_hp_0000851_mondo_mondo_0018612_medgen_c0010308_orphanet_442 Congenital hypothyroidism Human_Phenotype_Ontology:HP:0000851,MONDO:MONDO:0018612,MedGen:C0010308,Orphanet:442 5 5 1.0000 condition_record_support_limited 20 0 4 Congenital_hypothyroidism 239 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DTYMK mondo_mondo_0859241_medgen_c5676972_omim_619847 Neurodegeneration, childhood-onset, with progressive microcephaly MONDO:MONDO:0859241,MedGen:C5676972,OMIM:619847 5 5 1.0000 condition_record_support_limited 20 0 0 Neurodegeneration,_childhood-onset,_with_progressive_microcephaly 5 low_record_burden_interpretation_limited low_record_burden_gene DTNBP1 mondo_mondo_0013559_medgen_c3279756_omim_614076_orphanet_231531_orphanet_79430 Hermansky-Pudlak syndrome 7 MONDO:MONDO:0013559,MedGen:C3279756,OMIM:614076,Orphanet:231531,Orphanet:79430 5 5 1.0000 condition_record_support_limited 20 0 2 Hermansky-Pudlak_syndrome_7 15 low_record_burden_interpretation_limited low_record_burden_gene DSTYK gene_100034704_mondo_mondo_0012561_medgen_c1835826_omim_610805 Congenital anomalies of kidney and urinary tract 1 Gene:100034704,MONDO:MONDO:0012561,MedGen:C1835826,OMIM:610805 5 5 1.0000 condition_record_support_limited 20 0 0 Congenital_anomalies_of_kidney_and_urinary_tract_1 6 low_record_burden_interpretation_limited low_record_burden_gene DST dst_related_disorder DST-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 2 DST-related_disorder 196 large_gene_or_donor_burden_stress_case donor_burden_stress DSE condition_not_provided condition not provided .|MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 See_cases|not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene DSC3 mondo_mondo_0013136_medgen_c2751292_omim_613102_orphanet_217407 Hereditary hypotrichosis with recurrent skin vesicles MONDO:MONDO:0013136,MedGen:C2751292,OMIM:613102,Orphanet:217407 5 5 1.0000 condition_record_support_limited 20 0 1 Hereditary_hypotrichosis_with_recurrent_skin_vesicles 7 low_record_burden_interpretation_limited low_record_burden_gene DSC2 mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 Arrhythmogenic right ventricular cardiomyopathy MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 5 5 1.0000 condition_record_support_limited 20 0 2 Arrhythmogenic_right_ventricular_cardiomyopathy 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DRC1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided|not_specified 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DPAGT1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DONSON mondo_mondo_0009619_medgen_c1855079_omim_251230_orphanet_572768 Microcephaly-micromelia syndrome MONDO:MONDO:0009619,MedGen:C1855079,OMIM:251230,Orphanet:572768 5 5 1.0000 condition_record_support_limited 20 0 5 Microcephaly-micromelia_syndrome 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOLK cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 5 5 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 14 low_record_burden_interpretation_limited low_record_burden_gene DOK7 dok7_related_disorder DOK7-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 DOK7-related_disorder 144 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOHH mondo_mondo_0859293_medgen_c5774225_omim_620066 Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment MONDO:MONDO:0859293,MedGen:C5774225,OMIM:620066 5 5 1.0000 condition_record_support_limited 20 0 4 Neurodevelopmental_disorder_with_microcephaly,_cerebral_atrophy,_and_visual_impairment 5 low_record_burden_interpretation_limited low_record_burden_gene DOCK6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DOCK6 dock6_related_disorder DOCK6-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 DOCK6-related_disorder 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DOCK6 mondo_mondo_0007034_medgen_c0265268_omim_ps100300_orphanet_974 Adams-Oliver syndrome MONDO:MONDO:0007034,MedGen:C0265268,OMIM:PS100300,Orphanet:974 5 5 1.0000 condition_record_support_limited 20 0 3 Adams-Oliver_syndrome 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DNMT3A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAH7 mondo_mondo_0957252_medgen_c5830473_omim_620356 Ciliary dyskinesia, primary, 50 MONDO:MONDO:0957252,MedGen:C5830473,OMIM:620356 5 5 1.0000 condition_record_support_limited 20 0 0 Ciliary_dyskinesia,_primary,_50 7 low_record_burden_interpretation_limited low_record_burden_gene DNAH17 dnah17_related_disorder DNAH17-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 0 DNAH17-related_disorder 23 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH10 mondo_mondo_0030430_medgen_c5561978_omim_619515 Spermatogenic failure 56 MONDO:MONDO:0030430,MedGen:C5561978,OMIM:619515 5 5 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_56 6 low_record_burden_interpretation_limited low_record_burden_gene DNAH1 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 5 5 1.0000 condition_record_support_limited 20 0 3 Primary_ciliary_dyskinesia 139 large_gene_or_donor_burden_stress_case donor_burden_stress DNAAF6 mondo_mondo_0010517_medgen_c4478372_omim_300991 Ciliary dyskinesia, primary, 36, X-linked MONDO:MONDO:0010517,MedGen:C4478372,OMIM:300991 5 5 1.0000 condition_record_support_limited 20 0 0 Ciliary_dyskinesia,_primary,_36,_X-linked 12 low_record_burden_interpretation_limited low_record_burden_gene DMD human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Muscular dystrophy Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 5 5 1.0000 condition_record_support_limited 20 0 2 Muscular_dystrophy 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DLX3 mondo_mondo_0008592_medgen_c0265333_omim_190320_orphanet_3352 Tricho-dento-osseous syndrome MONDO:MONDO:0008592,MedGen:C0265333,OMIM:190320,Orphanet:3352 5 5 1.0000 condition_record_support_limited 20 0 5 Tricho-dento-osseous_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene DLL4 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLG4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLG3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 40 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture DKC1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHX9 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 17 low_record_burden_interpretation_limited low_record_burden_gene DHPS condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene DHODH condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene DHH mondo_mondo_0011766_medgen_c5436061_omim_607080_orphanet_168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome MONDO:MONDO:0011766,MedGen:C5436061,OMIM:607080,Orphanet:168563 5 5 1.0000 condition_record_support_limited 20 0 0 46,XY_gonadal_dysgenesis-motor_and_sensory_neuropathy_syndrome 19 low_record_burden_interpretation_limited low_record_burden_gene DHCR24 mondo_mondo_0011217_medgen_c1865596_omim_602398_orphanet_35107 Desmosterolosis MONDO:MONDO:0011217,MedGen:C1865596,OMIM:602398,Orphanet:35107 5 5 1.0000 condition_record_support_limited 20 0 0 Desmosterolosis 6 low_record_burden_interpretation_limited low_record_burden_gene DEPDC5 depdc5_related_disorder DEPDC5-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 DEPDC5-related_disorder 382 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX59 mondo_mondo_0008267_medgen_c1868118_omim_174300_orphanet_2919 Orofaciodigital syndrome V MONDO:MONDO:0008267,MedGen:C1868118,OMIM:174300,Orphanet:2919 5 5 1.0000 condition_record_support_limited 20 0 1 Orofaciodigital_syndrome_V 8 low_record_burden_interpretation_limited low_record_burden_gene DCN mondo_mondo_0012401_medgen_c1864738_omim_610048_orphanet_101068 Congenital stromal corneal dystrophy MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048,Orphanet:101068 5 5 1.0000 condition_record_support_limited 20 0 0 Congenital_stromal_corneal_dystrophy 5 low_record_burden_interpretation_limited low_record_burden_gene DAW1 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 5 5 1.0000 condition_record_support_limited 20 0 5 Primary_ciliary_dyskinesia 5 low_record_burden_interpretation_limited low_record_burden_gene DAW1 mondo_mondo_0957922_medgen_c5882714_omim_620570 Ciliary dyskinesia, primary, 52 MONDO:MONDO:0957922,MedGen:C5882714,OMIM:620570 5 5 1.0000 condition_record_support_limited 20 0 5 Ciliary_dyskinesia,_primary,_52 5 low_record_burden_interpretation_limited low_record_burden_gene DARS2 mondo_mondo_0980969_medgen_cn380850_omim_621485 Charcot-Marie-Tooth disease, axonal, type 2LL MONDO:MONDO:0980969,MedGen:CN380850,OMIM:621485 5 5 1.0000 condition_record_support_limited 20 0 2 Charcot-Marie-Tooth_disease,_axonal,_type_2LL 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DAGLA mondo_mondo_0008206_medgen_c1868576_omim_168885_orphanet_1179 Benign paroxysmal tonic upgaze of childhood with ataxia MONDO:MONDO:0008206,MedGen:C1868576,OMIM:168885,Orphanet:1179 5 5 1.0000 condition_record_support_limited 20 0 1 Benign_paroxysmal_tonic_upgaze_of_childhood_with_ataxia 8 low_record_burden_interpretation_limited low_record_burden_gene DAAM2 mondo_mondo_0031008_medgen_c5543267_omim_619263_orphanet_567548 Nephrotic syndrome, type 24 MONDO:MONDO:0031008,MedGen:C5543267,OMIM:619263,Orphanet:567548 5 5 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome,_type_24 5 low_record_burden_interpretation_limited low_record_burden_gene CYP7B1 cyp7b1_related_disorder CYP7B1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 CYP7B1-related_disorder 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP26B1 mondo_mondo_0013740_medgen_c3280729_omim_614416_orphanet_293925 Lethal occipital encephalocele-skeletal dysplasia syndrome MONDO:MONDO:0013740,MedGen:C3280729,OMIM:614416,Orphanet:293925 5 5 1.0000 condition_record_support_limited 20 0 3 Lethal_occipital_encephalocele-skeletal_dysplasia_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene CYLD multiple_monogenic_benign_skin_tumours Multiple monogenic benign skin tumours . 5 5 1.0000 condition_record_support_limited 20 0 2 Multiple_monogenic_benign_skin_tumours 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYGB human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 1.0000 condition_record_support_limited 20 0 5 Retinal_dystrophy 13 low_record_burden_interpretation_limited low_record_burden_gene CYCS mondo_mondo_0012775_medgen_c2677608_omim_612004_orphanet_268322 Thrombocytopenia 4 MONDO:MONDO:0012775,MedGen:C2677608,OMIM:612004,Orphanet:268322 5 5 1.0000 condition_record_support_limited 20 0 2 Thrombocytopenia_4 7 low_record_burden_interpretation_limited low_record_burden_gene CYBB mondo_mondo_0010389_medgen_c1970859_omim_300645_orphanet_319605 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency MONDO:MONDO:0010389,MedGen:C1970859,OMIM:300645,Orphanet:319605 5 5 1.0000 condition_record_support_limited 20 0 5 X-linked_Mendelian_susceptibility_to_mycobacterial_diseases_due_to_CYBB_deficiency 206 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL4B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTU2 mondo_mondo_0020647_medgen_c4748348_omim_618142 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome MONDO:MONDO:0020647,MedGen:C4748348,OMIM:618142 5 5 1.0000 condition_record_support_limited 20 0 2 Microcephaly,_facial_dysmorphism,_renal_agenesis,_and_ambiguous_genitalia_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene CSTA mondo_mondo_0011937_medgen_c4225407_omim_607936_orphanet_289586 Peeling skin syndrome 4 MONDO:MONDO:0011937,MedGen:C4225407,OMIM:607936,Orphanet:289586 5 5 1.0000 condition_record_support_limited 20 0 2 Peeling_skin_syndrome_4 7 low_record_burden_interpretation_limited low_record_burden_gene CSRP3 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 5 5 1.0000 condition_record_support_limited 20 0 4 Cardiomyopathy 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSPP1 cspp1_related_disorder CSPP1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 CSPP1-related_disorder 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRYBA4 mondo_mondo_0012489_medgen_c3808012_omim_610425_orphanet_91492 Cataract 23 MONDO:MONDO:0012489,MedGen:C3808012,OMIM:610425,Orphanet:91492 5 5 1.0000 condition_record_support_limited 20 0 0 Cataract_23 20 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture CRYAB mondo_mondo_0013411_medgen_c3808377_omim_613763_orphanet_91492_orphanet_98992_orphanet_98993_orphanet_98995 Cataract 16 multiple types MONDO:MONDO:0013411,MedGen:C3808377,OMIM:613763,Orphanet:91492,Orphanet:98992,Orphanet:98993,Orphanet:98995 5 5 1.0000 condition_record_support_limited 20 0 1 Cataract_16_multiple_types 18 low_record_burden_interpretation_limited low_record_burden_gene CRELD1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene CRELD1 mondo_mondo_0011650_medgen_c1853508_omim_606217 Atrioventricular septal defect, susceptibility to, 2 MONDO:MONDO:0011650,MedGen:C1853508,OMIM:606217 5 5 1.0000 condition_record_support_limited 20 0 0 Atrioventricular_septal_defect,_susceptibility_to,_2 14 low_record_burden_interpretation_limited low_record_burden_gene CREB3L1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 0 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene CRBN mondo_mondo_0011828_medgen_c1843942_omim_607417_orphanet_88616 Intellectual disability, autosomal recessive 2 MONDO:MONDO:0011828,MedGen:C1843942,OMIM:607417,Orphanet:88616 5 5 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability,_autosomal_recessive_2 12 low_record_burden_interpretation_limited low_record_burden_gene CRB1 human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 5 5 1.0000 condition_record_support_limited 20 0 4 Macular_dystrophy 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPLANE1 human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 5 5 1.0000 condition_record_support_limited 20 0 2 Focal_segmental_glomerulosclerosis 343 large_gene_or_donor_burden_stress_case donor_burden_stress CPE mondo_mondo_0859150_medgen_c5543403_omim_619326_orphanet_633028 BDV syndrome MONDO:MONDO:0859150,MedGen:C5543403,OMIM:619326,Orphanet:633028 5 5 1.0000 condition_record_support_limited 20 0 2 BDV_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene COQ2 mondo_mondo_0018151_medgen_c1843920_omim_ps607426_orphanet_35656 Coenzyme Q10 deficiency MONDO:MONDO:0018151,MedGen:C1843920,OMIM:PS607426,Orphanet:35656 5 5 1.0000 condition_record_support_limited 20 0 5 Coenzyme_Q10_deficiency 40 compact_adjacent_exon_block_opportunity local_compact_architecture COMP mondo_mondo_0030883_medgen_c5436916_omim_619161 Carpal tunnel syndrome 2 MONDO:MONDO:0030883,MedGen:C5436916,OMIM:619161 5 5 1.0000 condition_record_support_limited 20 0 4 Carpal_tunnel_syndrome_2 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COLGALT1 mondo_mondo_0100105_medgen_c5193053_omim_618360 Brain small vessel disease 3 MONDO:MONDO:0100105,MedGen:C5193053,OMIM:618360 5 5 1.0000 condition_record_support_limited 20 0 0 Brain_small_vessel_disease_3 7 low_record_burden_interpretation_limited low_record_burden_gene COLEC10 mondo_mondo_0009554_medgen_c0796032_omim_248340_orphanet_293843 3MC syndrome 3 MONDO:MONDO:0009554,MedGen:C0796032,OMIM:248340,Orphanet:293843 5 5 1.0000 condition_record_support_limited 20 0 1 3MC_syndrome_3 6 low_record_burden_interpretation_limited low_record_burden_gene COL9A1 mondo_mondo_0013590_medgen_c3279941_omim_614134_orphanet_250984_orphanet_828 Stickler syndrome, type 4 MONDO:MONDO:0013590,MedGen:C3279941,OMIM:614134,Orphanet:250984,Orphanet:828 5 5 1.0000 condition_record_support_limited 20 0 4 Stickler_syndrome,_type_4 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL7A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 medgen_c1853063 Epidermolysis bullosa pruriginosa, autosomal recessive MedGen:C1853063 5 5 1.0000 condition_record_support_limited 20 0 5 Epidermolysis_bullosa_pruriginosa,_autosomal_recessive 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL6A2 bethlem_myopathy_1b_autosomal_recessive BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE . 5 5 1.0000 condition_record_support_limited 20 0 3 BETHLEM_MYOPATHY_1B,_AUTOSOMAL_RECESSIVE 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL5A1 mondo_mondo_0859151_medgen_c5543412_omim_619329 Fibromuscular dysplasia, multifocal MONDO:MONDO:0859151,MedGen:C5543412,OMIM:619329 5 5 1.0000 condition_record_support_limited 20 0 5 Fibromuscular_dysplasia,_multifocal 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 col5a1_related_disorder COL5A1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 1 COL5A1-related_disorder 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 mondo_mondo_0008478_medgen_c1866688_omim_184253_orphanet_93316 Spondylometaphyseal dysplasia, Schmidt type MONDO:MONDO:0008478,MedGen:C1866688,OMIM:184253,Orphanet:93316 5 5 1.0000 condition_record_support_limited 20 0 4 Spondylometaphyseal_dysplasia,_Schmidt_type 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL18A1 early_onset_and_severe_retinal_dystrophy early onset and severe retinal dystrophy . 5 5 1.0000 condition_record_support_limited 20 0 0 early_onset_and_severe_retinal_dystrophy 214 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL18A1 mondo_mondo_0030038_medgen_c5394374_omim_618880 Hereditary glaucoma, primary closed-angle MONDO:MONDO:0030038,MedGen:C5394374,OMIM:618880 5 5 1.0000 condition_record_support_limited 20 0 5 Hereditary_glaucoma,_primary_closed-angle 214 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL11A1 mondo_mondo_0044339_medgen_c0158252_omim_603932 Intervertebral disc disorder MONDO:MONDO:0044339,MedGen:C0158252,OMIM:603932 5 5 1.0000 condition_record_support_limited 20 0 4 Intervertebral_disc_disorder 248 large_gene_or_donor_burden_stress_case donor_burden_stress COG7 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COG2 mondo_mondo_0054559_medgen_c4479353_omim_617395_orphanet_435934 Congenital disorder of glycosylation, type IIq MONDO:MONDO:0054559,MedGen:C4479353,OMIM:617395,Orphanet:435934 5 5 1.0000 condition_record_support_limited 20 0 0 Congenital_disorder_of_glycosylation,_type_IIq 7 low_record_burden_interpretation_limited low_record_burden_gene CNTNAP1 cntnap1_related_disorder CNTNAP1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 0 CNTNAP1-related_disorder 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNP mondo_mondo_0008053_medgen_c1834531_omim_160700 Myopia 2, autosomal dominant MONDO:MONDO:0008053,MedGen:C1834531,OMIM:160700 5 5 1.0000 condition_record_support_limited 20 0 0 Myopia_2,_autosomal_dominant 6 low_record_burden_interpretation_limited low_record_burden_gene CNOT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 45 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CNGA1 cnga1_related_disorder CNGA1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 CNGA1-related_disorder 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLRN1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 5 5 1.0000 condition_record_support_limited 20 0 4 Retinitis_pigmentosa 97 compact_adjacent_exon_block_opportunity local_compact_architecture CLRN1 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 5 5 1.0000 condition_record_support_limited 20 0 5 Rare_genetic_deafness 97 compact_adjacent_exon_block_opportunity local_compact_architecture CLPB mondo_mondo_0030726_medgen_c5676954_omim_619813 Neutropenia, severe congenital, 9, autosomal dominant MONDO:MONDO:0030726,MedGen:C5676954,OMIM:619813 5 5 1.0000 condition_record_support_limited 20 0 2 Neutropenia,_severe_congenital,_9,_autosomal_dominant 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CIB2 mondo_mondo_0013935_medgen_c3553944_orphanet_231169_orphanet_886 Usher syndrome type 1J MONDO:MONDO:0013935,MedGen:C3553944,Orphanet:231169,Orphanet:886 5 5 1.0000 condition_record_support_limited 20 0 4 Usher_syndrome_type_1J 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNB2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene CHRNB2 mondo_mondo_0011545_medgen_c1854335_omim_605375_orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy 3 MONDO:MONDO:0011545,MedGen:C1854335,OMIM:605375,Orphanet:98784 5 5 1.0000 condition_record_support_limited 20 0 3 Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_3 7 low_record_burden_interpretation_limited low_record_burden_gene CHRNA4 mondo_mondo_0010899_medgen_c1838049_omim_600513_orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy 1 MONDO:MONDO:0010899,MedGen:C1838049,OMIM:600513,Orphanet:98784 5 5 1.0000 condition_record_support_limited 20 0 2 Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_1 8 low_record_burden_interpretation_limited low_record_burden_gene CHRNA3 medgen_c3150168_omim_612052 SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 MedGen:C3150168,OMIM:612052 5 5 1.0000 condition_record_support_limited 20 0 5 SMOKING_AS_A_QUANTITATIVE_TRAIT_LOCUS_3 16 low_record_burden_interpretation_limited low_record_burden_gene CHMP2B mondo_mondo_0010936_medgen_c1833296_omim_600795_orphanet_275864_orphanet_282_orphanet_803 Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795,Orphanet:275864,Orphanet:282,Orphanet:803 5 5 1.0000 condition_record_support_limited 20 0 3 Frontotemporal_dementia_and/or_amyotrophic_lateral_sclerosis_7 6 low_record_burden_interpretation_limited low_record_burden_gene CHM chm_related_disorder CHM-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 CHM-related_disorder 314 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHKB condition_not_provided condition not provided .|MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 See_cases|not_provided 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHEK2 medgen_c3469524 Prostate cancer susceptibility MedGen:C3469524 5 5 1.0000 condition_record_support_limited 20 0 5 Prostate_cancer_susceptibility 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 mondo_mondo_0018875_medgen_c0085390_omim_ps151623_orphanet_524 Li-Fraumeni syndrome MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524 5 5 1.0000 condition_record_support_limited 20 0 5 Li-Fraumeni_syndrome 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 breast_and_colorectal_cancer_susceptibility_to Breast and colorectal cancer, susceptibility to MedGen:CN068920 5 5 1.0000 condition_record_support_limited 20 0 5 Breast_and_colorectal_cancer,_susceptibility_to 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHD3 chd3_related_disorder CHD3-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 2 CHD3-related_disorder 122 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 5 5 1.0000 condition_record_support_limited 20 0 4 Seizure 368 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHCHD10 mondo_mondo_0014532_medgen_c4015513_omim_616209_orphanet_457050 Autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:MONDO:0014532,MedGen:C4015513,OMIM:616209,Orphanet:457050 5 5 1.0000 condition_record_support_limited 20 0 4 Autosomal_dominant_mitochondrial_myopathy_with_exercise_intolerance 5 low_record_burden_interpretation_limited low_record_burden_gene CHAMP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFTR respiratory_ciliopathies_including_non_cf_bronchiectasis Respiratory ciliopathies including non-CF bronchiectasis . 5 5 1.0000 condition_record_support_limited 20 0 4 Respiratory_ciliopathies_including_non-CF_bronchiectasis 1471 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP43 human_phenotype_ontology_hp_0002343_mondo_mondo_0009366_medgen_c0020258_omim_236690 Normal pressure hydrocephalus Human_Phenotype_Ontology:HP:0002343,MONDO:MONDO:0009366,MedGen:C0020258,OMIM:236690 5 5 1.0000 condition_record_support_limited 20 0 2 Normal_pressure_hydrocephalus 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP20 human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Rod-cone dystrophy Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 5 5 1.0000 condition_record_support_limited 20 0 0 Rod-cone_dystrophy 5 low_record_burden_interpretation_limited low_record_burden_gene CERS3 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 0 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene CERKL human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 5 5 1.0000 condition_record_support_limited 20 0 3 Cone-rod_dystrophy 202 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CERKL medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 5 5 1.0000 condition_record_support_limited 20 0 4 Autosomal_recessive_retinitis_pigmentosa 202 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP76 mondo_mondo_0008944_medgen_c4551568_omim_213300 Joubert syndrome 1 MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300 5 5 1.0000 condition_record_support_limited 20 0 0 Joubert_syndrome_1 13 low_record_burden_interpretation_limited low_record_burden_gene CEP55 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene CEP295 mondo_mondo_0958328_medgen_c5935595_omim_620767 Seckel syndrome 11 MONDO:MONDO:0958328,MedGen:C5935595,OMIM:620767 5 5 1.0000 condition_record_support_limited 20 0 0 Seckel_syndrome_11 5 low_record_burden_interpretation_limited low_record_burden_gene CEP128 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene CEP120 mondo_mondo_0033310_medgen_c4540355_omim_617761 Joubert syndrome 31 MONDO:MONDO:0033310,MedGen:C4540355,OMIM:617761 5 5 1.0000 condition_record_support_limited 20 0 2 Joubert_syndrome_31 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CELSR1 mondo_mondo_0019313_medgen_c0398368_omim_ps153100 Lymphatic malformation MONDO:MONDO:0019313,MedGen:C0398368,OMIM:PS153100 5 5 1.0000 condition_record_support_limited 20 0 3 Lymphatic_malformation 14 low_record_burden_interpretation_limited low_record_burden_gene CELF2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene CELA2A mondo_mondo_0032837_medgen_c5231430_omim_618620 Abdominal obesity-metabolic syndrome 4 MONDO:MONDO:0032837,MedGen:C5231430,OMIM:618620 5 5 1.0000 condition_record_support_limited 20 0 4 Abdominal_obesity-metabolic_syndrome_4 5 low_record_burden_interpretation_limited low_record_burden_gene CEL mondo_mondo_0012348_medgen_c1853297_omim_609812_orphanet_552 Maturity-onset diabetes of the young type 8 MONDO:MONDO:0012348,MedGen:C1853297,OMIM:609812,Orphanet:552 5 5 1.0000 condition_record_support_limited 20 0 0 Maturity-onset_diabetes_of_the_young_type_8 6 low_record_burden_interpretation_limited low_record_burden_gene CEBPE mondo_mondo_0009506_medgen_c0398593_omim_ps245480_orphanet_169142 Specific granule deficiency MONDO:MONDO:0009506,MedGen:C0398593,OMIM:PS245480,Orphanet:169142 5 5 1.0000 condition_record_support_limited 20 0 2 Specific_granule_deficiency 11 low_record_burden_interpretation_limited low_record_burden_gene CEACAM16 mondo_mondo_0013823_medgen_c3281297_omim_614614_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 4B MONDO:MONDO:0013823,MedGen:C3281297,OMIM:614614,Orphanet:90635 5 5 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_nonsyndromic_hearing_loss_4B 15 low_record_burden_interpretation_limited low_record_burden_gene CDKN2B-AS1 mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 5 5 1.0000 condition_record_support_limited 20 0 1 Malignant_tumor_of_breast 5 low_record_burden_interpretation_limited low_record_burden_gene CDKN2B mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 5 5 1.0000 condition_record_support_limited 20 0 1 Malignant_tumor_of_breast 5 low_record_burden_interpretation_limited low_record_burden_gene CDK19 mondo_mondo_0030059_medgen_c5394501_omim_618916 Developmental and epileptic encephalopathy, 87 MONDO:MONDO:0030059,MedGen:C5394501,OMIM:618916 5 5 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_87 8 low_record_burden_interpretation_limited low_record_burden_gene CDHR1 mondo_mondo_0800352_medgen_c3552852 Retinitis pigmentosa 65 MONDO:MONDO:0800352,MedGen:C3552852 5 5 1.0000 condition_record_support_limited 20 0 3 Retinitis_pigmentosa_65 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH11 mondo_mondo_0008885_medgen_c0809936_omim_211380_orphanet_1299_orphanet_157788 Elsahy-Waters syndrome MONDO:MONDO:0008885,MedGen:C0809936,OMIM:211380,Orphanet:1299,Orphanet:157788 5 5 1.0000 condition_record_support_limited 20 0 1 Elsahy-Waters_syndrome 14 low_record_burden_interpretation_limited low_record_burden_gene CDCA7L mondo_mondo_0012748_medgen_c2678473_omim_611884_orphanet_244 Primary ciliary dyskinesia 7 MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244 5 5 1.0000 condition_record_support_limited 20 0 2 Primary_ciliary_dyskinesia_7 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD96 mondo_mondo_0008893_medgen_c0796095_omim_211750_orphanet_1308 C syndrome MONDO:MONDO:0008893,MedGen:C0796095,OMIM:211750,Orphanet:1308 5 5 1.0000 condition_record_support_limited 20 0 0 C_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene CD63 medgen_c4016746 Fundus albipunctatus, autosomal recessive MedGen:C4016746 5 5 1.0000 condition_record_support_limited 20 0 4 Fundus_albipunctatus,_autosomal_recessive 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD40 mondo_mondo_0011735_medgen_c1720957_omim_606843_orphanet_101090 Hyper-IgM syndrome type 3 MONDO:MONDO:0011735,MedGen:C1720957,OMIM:606843,Orphanet:101090 5 5 1.0000 condition_record_support_limited 20 0 0 Hyper-IgM_syndrome_type_3 15 low_record_burden_interpretation_limited low_record_burden_gene CD36 mondo_mondo_0012585_medgen_c1970441_omim_610938 Coronary heart disease, susceptibility to, 7 MONDO:MONDO:0012585,MedGen:C1970441,OMIM:610938 5 5 1.0000 condition_record_support_limited 20 0 5 Coronary_heart_disease,_susceptibility_to,_7 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD27 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene CCR2 mondo_mondo_0009060_medgen_c1384901_omim_219600 Cystic disease of lung MONDO:MONDO:0009060,MedGen:C1384901,OMIM:219600 5 5 1.0000 condition_record_support_limited 20 0 0 Cystic_disease_of_lung 5 low_record_burden_interpretation_limited low_record_burden_gene CCNQ mondo_mondo_0010408_medgen_c2678045_omim_300707_orphanet_140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:MONDO:0010408,MedGen:C2678045,OMIM:300707,Orphanet:140952 5 5 1.0000 condition_record_support_limited 20 0 0 Syndactyly-telecanthus-anogenital_and_renal_malformations_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene CCND2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 17 low_record_burden_interpretation_limited low_record_burden_gene CCIN mondo_mondo_0970952_medgen_c5935623_omim_620838 Spermatogenic failure 91 MONDO:MONDO:0970952,MedGen:C5935623,OMIM:620838 5 5 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_91 5 low_record_burden_interpretation_limited low_record_burden_gene CCDC88A mondo_mondo_0020495_medgen_c1850056_omim_617507_orphanet_99807 PEHO-like syndrome MONDO:MONDO:0020495,MedGen:C1850056,OMIM:617507,Orphanet:99807 5 5 1.0000 condition_record_support_limited 20 0 2 PEHO-like_syndrome 36 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CCDC40 ccdc40_related_disorder CCDC40-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 CCDC40-related_disorder 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 5 5 1.0000 condition_record_support_limited 20 0 4 Joubert_syndrome_and_related_disorders 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBL mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 Noonan syndrome MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 5 5 1.0000 condition_record_support_limited 20 0 5 Noonan_syndrome 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBL human_phenotype_ontology_hp_0012209_mondo_mondo_0011908_medgen_c0349639_omim_607785_orphanet_86834 Juvenile myelomonocytic leukemia Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834 5 5 1.0000 condition_record_support_limited 20 0 5 Juvenile_myelomonocytic_leukemia 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAV1 mondo_mondo_0014135_medgen_c3809192_omim_615343_orphanet_422 Pulmonary hypertension, primary, 3 MONDO:MONDO:0014135,MedGen:C3809192,OMIM:615343,Orphanet:422 5 5 1.0000 condition_record_support_limited 20 0 1 Pulmonary_hypertension,_primary,_3 12 low_record_burden_interpretation_limited low_record_burden_gene CASP2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 5 low_record_burden_interpretation_limited low_record_burden_gene CASK mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 5 5 1.0000 condition_record_support_limited 20 0 5 Congenital_cerebellar_hypoplasia 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAMSAP1 camsap1_related_neuronal_migration_disorder CAMSAP1-related neuronal migration disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 CAMSAP1-related_neuronal_migration_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene CAMK2G mondo_mondo_0032795_medgen_c5193190_omim_618522 Intellectual developmental disorder 59 MONDO:MONDO:0032795,MedGen:C5193190,OMIM:618522 5 5 1.0000 condition_record_support_limited 20 0 1 Intellectual_developmental_disorder_59 6 low_record_burden_interpretation_limited low_record_burden_gene CALM1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNA1F human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 5 5 1.0000 condition_record_support_limited 20 0 4 Cone-rod_dystrophy 189 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1D mondo_mondo_0014200_medgen_c3809609_omim_615474_orphanet_369929 Aldosterone-producing adenoma with seizures and neurological abnormalities MONDO:MONDO:0014200,MedGen:C3809609,OMIM:615474,Orphanet:369929 5 5 1.0000 condition_record_support_limited 20 0 3 Aldosterone-producing_adenoma_with_seizures_and_neurological_abnormalities 21 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CABP2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene CABP2 mondo_mondo_0013963_medgen_c3888355_omim_614899_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 93 MONDO:MONDO:0013963,MedGen:C3888355,OMIM:614899,Orphanet:90636 5 5 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_nonsyndromic_hearing_loss_93 11 low_record_burden_interpretation_limited low_record_burden_gene CA2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CA12 mondo_mondo_0007747_medgen_c1840437_omim_143860_orphanet_542657 Isolated hyperchlorhidrosis MONDO:MONDO:0007747,MedGen:C1840437,OMIM:143860,Orphanet:542657 5 5 1.0000 condition_record_support_limited 20 0 0 Isolated_hyperchlorhidrosis 5 low_record_burden_interpretation_limited low_record_burden_gene C8A mondo_mondo_0013422_medgen_c3151081_omim_613790 Type I complement component 8 deficiency MONDO:MONDO:0013422,MedGen:C3151081,OMIM:613790 5 5 1.0000 condition_record_support_limited 20 0 5 Type_I_complement_component_8_deficiency 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C3 mondo_mondo_0013892_medgen_c4055342_omim_614809_orphanet_329931 C3 glomerulonephritis MONDO:MONDO:0013892,MedGen:C4055342,OMIM:614809,Orphanet:329931 5 5 1.0000 condition_record_support_limited 20 0 4 C3_glomerulonephritis 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C1S mondo_mondo_0014954_medgen_c4310681_omim_617174 Ehlers-Danlos syndrome, periodontal type 2 MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174 5 5 1.0000 condition_record_support_limited 20 0 4 Ehlers-Danlos_syndrome,_periodontal_type_2 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C1S mondo_mondo_0013419_medgen_c3151078_omim_613783 Complement component C1s deficiency MONDO:MONDO:0013419,MedGen:C3151078,OMIM:613783 5 5 1.0000 condition_record_support_limited 20 0 3 Complement_component_C1s_deficiency 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C1QA mondo_mondo_0013343_medgen_c3150902_omim_ps613652 C1Q deficiency MONDO:MONDO:0013343,MedGen:C3150902,OMIM:PS613652 5 5 1.0000 condition_record_support_limited 20 0 3 C1Q_deficiency 12 low_record_burden_interpretation_limited low_record_burden_gene C1GALT1C1 mondo_mondo_0010381_medgen_c0272137_omim_300622 Polyagglutinable erythrocyte syndrome MONDO:MONDO:0010381,MedGen:C0272137,OMIM:300622 5 5 1.0000 condition_record_support_limited 20 0 0 Polyagglutinable_erythrocyte_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene C17ORF107 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 5 5 1.0000 condition_record_support_limited 20 0 3 Abnormality_of_the_musculature 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C14ORF39 mondo_mondo_0030939_medgen_c5543095_omim_619203 Premature ovarian failure 18 MONDO:MONDO:0030939,MedGen:C5543095,OMIM:619203 5 5 1.0000 condition_record_support_limited 20 0 2 Premature_ovarian_failure_18 17 low_record_burden_interpretation_limited low_record_burden_gene C12ORF57 mondo_mondo_0030362_medgen_c5561966_omim_619487 Aicardi-Goutieres syndrome 9 MONDO:MONDO:0030362,MedGen:C5561966,OMIM:619487 5 5 1.0000 condition_record_support_limited 20 0 4 Aicardi-Goutieres_syndrome_9 27 compact_adjacent_exon_block_opportunity local_compact_architecture C11ORF65 human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 5 5 1.0000 condition_record_support_limited 20 0 5 Tip-toe_gait 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 mondo_mondo_0018266_medgen_c1876175_orphanet_370109 Ataxia - telangiectasia variant MONDO:MONDO:0018266,MedGen:C1876175,Orphanet:370109 5 5 1.0000 condition_record_support_limited 20 0 5 Ataxia_-_telangiectasia_variant 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BTG4 mondo_mondo_0033564_medgen_c5436597_omim_619009 Oocyte maturation defect 8 MONDO:MONDO:0033564,MedGen:C5436597,OMIM:619009 5 5 1.0000 condition_record_support_limited 20 0 0 Oocyte_maturation_defect_8 5 low_record_burden_interpretation_limited low_record_burden_gene BRSK2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRIP1 human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Ovarian neoplasm Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 5 5 1.0000 condition_record_support_limited 20 0 4 Ovarian_neoplasm 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 nice_approved_parp_inhibitor_treatment NICE approved PARP inhibitor treatment . 5 5 1.0000 condition_record_support_limited 20 0 5 NICE_approved_PARP_inhibitor_treatment 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 medgen_c3469522 Breast cancer, susceptibility to MedGen:C3469522 5 5 1.0000 condition_record_support_limited 20 0 3 Breast_cancer,_susceptibility_to 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Endometrial carcinoma Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 5 5 1.0000 condition_record_support_limited 20 0 5 Endometrial_carcinoma 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRAF mondo_mondo_0005138_medgen_c0684249 Lung carcinoma MONDO:MONDO:0005138,MedGen:C0684249 5 5 1.0000 condition_record_support_limited 20 0 5 Lung_carcinoma 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF human_phenotype_ontology_hp_0030078_mondo_mondo_0005061_mesh_d000077192_medgen_c0152013 Lung adenocarcinoma Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013 5 5 1.0000 condition_record_support_limited 20 0 4 Lung_adenocarcinoma 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 5 5 1.0000 condition_record_support_limited 20 0 5 Colorectal_cancer 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BPNT2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene BMPR2 medgen_c3697119_orphanet_275803 Pulmonary arterial hypertension associated with congenital heart disease MedGen:C3697119,Orphanet:275803 5 5 1.0000 condition_record_support_limited 20 0 2 Pulmonary_arterial_hypertension_associated_with_congenital_heart_disease 502 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMP1 mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 Osteogenesis imperfecta MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 5 5 1.0000 condition_record_support_limited 20 0 4 Osteogenesis_imperfecta 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BLOC1S3 mondo_mondo_0013560_medgen_c3888026_omim_614077_orphanet_79430 Hermansky-Pudlak syndrome 8 MONDO:MONDO:0013560,MedGen:C3888026,OMIM:614077,Orphanet:79430 5 5 1.0000 condition_record_support_limited 20 0 0 Hermansky-Pudlak_syndrome_8 5 low_record_burden_interpretation_limited low_record_burden_gene BLM mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 5 5 1.0000 condition_record_support_limited 20 0 3 Colorectal_cancer 583 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BEST1 human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 5 5 1.0000 condition_record_support_limited 20 0 5 Macular_dystrophy 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCS1L mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL11B mondo_mondo_0014981_medgen_c4310656_omim_617237 Immunodeficiency 49 MONDO:MONDO:0014981,MedGen:C4310656,OMIM:617237 5 5 1.0000 condition_record_support_limited 20 0 5 Immunodeficiency_49 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL11A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS9 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 1.0000 condition_record_support_limited 20 0 4 Retinal_dystrophy 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS2 mondo_mondo_1040048_medgen_cn378634 BBS2-related ciliopathy MONDO:MONDO:1040048,MedGen:CN378634 5 5 1.0000 condition_record_support_limited 20 0 5 BBS2-related_ciliopathy 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BAZ2B condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene BARD1 bard1_related_disorder BARD1-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 BARD1-related_disorder 610 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BAP1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 5 5 1.0000 condition_record_support_limited 20 0 5 Neurodevelopmental_disorder 413 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BAAT mondo_mondo_0030991_medgen_c5543203_omim_619232 Bile acid conjugation defect 1 MONDO:MONDO:0030991,MedGen:C5543203,OMIM:619232 5 5 1.0000 condition_record_support_limited 20 0 0 Bile_acid_conjugation_defect_1 6 low_record_burden_interpretation_limited low_record_burden_gene B9D2 mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 5 5 1.0000 condition_record_support_limited 20 0 3 Joubert_syndrome_and_related_disorders 10 low_record_burden_interpretation_limited low_record_burden_gene B9D1 mondo_mondo_0014927_medgen_c4310706_omim_617120 Joubert syndrome 27 MONDO:MONDO:0014927,MedGen:C4310706,OMIM:617120 5 5 1.0000 condition_record_support_limited 20 0 4 Joubert_syndrome_27 14 low_record_burden_interpretation_limited low_record_burden_gene AXIN2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AVP avp_related_disorder AVP-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 AVP-related_disorder 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP9A condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 5 5 1.0000 condition_record_support_limited 20 5 2 See_cases|not_provided|not_specified 12 low_record_burden_interpretation_limited low_record_burden_gene ATP7A atp7a_related_disorder ATP7A-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 4 ATP7A-related_disorder 254 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V0A4 atp6v0a4_related_disorder ATP6V0A4-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 3 ATP6V0A4-related_disorder 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATN1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 5 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene ATG4D mondo_mondo_0979572_medgen_c6012753_omim_621269 Spermatogenic failure 101 MONDO:MONDO:0979572,MedGen:C6012753,OMIM:621269 5 5 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_101 7 low_record_burden_interpretation_limited low_record_burden_gene ASXL3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 1.0000 condition_record_support_limited 20 0 5 Intellectual_disability 234 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASXL3 asxl3_related_disorder ASXL3-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 3 ASXL3-related_disorder 234 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASTN2 trim32_related_disorder TRIM32-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 TRIM32-related_disorder 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASPM aspm_related_disorder ASPM-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 3 ASPM-related_disorder 348 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASL asl_related_disorder ASL-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 ASL-related_disorder 236 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARSA mondo_mondo_0017729_medgen_c0751278_orphanet_309256 Metachromatic leukodystrophy, late infantile form MONDO:MONDO:0017729,MedGen:C0751278,Orphanet:309256 5 5 1.0000 condition_record_support_limited 20 0 5 Metachromatic_leukodystrophy,_late_infantile_form 357 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARSA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 357 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARMC2 mondo_mondo_0032748_medgen_c5193095_omim_618433 Spermatogenic failure 38 MONDO:MONDO:0032748,MedGen:C5193095,OMIM:618433 5 5 1.0000 condition_record_support_limited 20 0 5 Spermatogenic_failure_38 7 low_record_burden_interpretation_limited low_record_burden_gene ARMC2 mondo_mondo_0018394_medgen_c4706677_orphanet_399808 Male infertility with teratozoospermia due to single gene mutation MONDO:MONDO:0018394,MedGen:C4706677,Orphanet:399808 5 5 1.0000 condition_record_support_limited 20 0 5 Male_infertility_with_teratozoospermia_due_to_single_gene_mutation 7 low_record_burden_interpretation_limited low_record_burden_gene ARL6 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARID1A arid1a_related_disorder ARID1A-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 1 ARID1A-related_disorder 141 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARF3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 1.0000 condition_record_support_limited 20 0 5 Intellectual_disability 10 low_record_burden_interpretation_limited low_record_burden_gene ARF3 human_phenotype_ontology_hp_0007367_medgen_c4024899 Atrophy/Degeneration affecting the central nervous system Human_Phenotype_Ontology:HP:0007367,MedGen:C4024899 5 5 1.0000 condition_record_support_limited 20 0 5 Atrophy/Degeneration_affecting_the_central_nervous_system 10 low_record_burden_interpretation_limited low_record_burden_gene AR medgen_c4015779 Prostate cancer, somatic MedGen:C4015779 5 5 1.0000 condition_record_support_limited 20 0 0 Prostate_cancer,_somatic 365 compact_adjacent_exon_block_opportunity local_compact_architecture AQP5 mondo_mondo_0010849_medgen_c1838359_omim_600231_orphanet_2337 Palmoplantar keratoderma, Bothnian type MONDO:MONDO:0010849,MedGen:C1838359,OMIM:600231,Orphanet:2337 5 5 1.0000 condition_record_support_limited 20 0 1 Palmoplantar_keratoderma,_Bothnian_type 5 low_record_burden_interpretation_limited low_record_burden_gene APOA5 mondo_mondo_0007762_medgen_c0020481_omim_144650_orphanet_530849 Familial type 5 hyperlipoproteinemia MONDO:MONDO:0007762,MedGen:C0020481,OMIM:144650,Orphanet:530849 5 5 1.0000 condition_record_support_limited 20 0 2 Familial_type_5_hyperlipoproteinemia 14 low_record_burden_interpretation_limited low_record_burden_gene APC medgen_c1858438 Colorectal cancer, susceptibility to MedGen:C1858438 5 5 1.0000 condition_record_support_limited 20 0 5 Colorectal_cancer,_susceptibility_to 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control AP4M1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 5 5 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4B1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO4 mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 5 5 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy 7 low_record_burden_interpretation_limited low_record_burden_gene ANKH condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 5 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene AMPD2 mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 Pontoneocerebellar hypoplasia MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 5 5 1.0000 condition_record_support_limited 20 0 5 Pontoneocerebellar_hypoplasia 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMMECR1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene ALPL human_phenotype_ontology_hp_0003282_medgen_c1860130 Decreased circulating alkaline phosphatase activity Human_Phenotype_Ontology:HP:0003282,MedGen:C1860130 5 5 1.0000 condition_record_support_limited 20 0 5 Decreased_circulating_alkaline_phosphatase_activity 532 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALPK3 alpk3_related_disorder ALPK3-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 3 ALPK3-related_disorder 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALMS1 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 5 5 1.0000 condition_record_support_limited 20 0 3 Bardet-Biedl_syndrome 999 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALG11 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene ALDOB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH7A1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 5 5 1.0000 condition_record_support_limited 20 0 5 Seizure 184 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH4A1 condition_not_provided condition not provided .|MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 See_cases|not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALAS2 mondo_mondo_0010420_medgen_c2677889_omim_300752_orphanet_443197 X-linked erythropoietic protoporphyria MONDO:MONDO:0010420,MedGen:C2677889,OMIM:300752,Orphanet:443197 5 5 1.0000 condition_record_support_limited 20 0 1 X-linked_erythropoietic_protoporphyria 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALAD mondo_mondo_0013000_medgen_c0268328_omim_612740_orphanet_100924_orphanet_95157 Porphobilinogen synthase deficiency MONDO:MONDO:0013000,MedGen:C0268328,OMIM:612740,Orphanet:100924,Orphanet:95157 5 5 1.0000 condition_record_support_limited 20 0 1 Porphobilinogen_synthase_deficiency 6 low_record_burden_interpretation_limited low_record_burden_gene AKT3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 5 5 1.0000 condition_record_support_limited 20 5 2 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene AIMP2 mondo_mondo_0054817_medgen_c4693912_omim_618006 Leukodystrophy, hypomyelinating, 17 MONDO:MONDO:0054817,MedGen:C4693912,OMIM:618006 5 5 1.0000 condition_record_support_limited 20 0 3 Leukodystrophy,_hypomyelinating,_17 7 low_record_burden_interpretation_limited low_record_burden_gene AIFM1 mondo_mondo_0010275_medgen_c1846148_omim_300232_orphanet_168448_orphanet_83629 Spondyloepimetaphyseal dysplasia, Bieganski type MONDO:MONDO:0010275,MedGen:C1846148,OMIM:300232,Orphanet:168448,Orphanet:83629 5 5 1.0000 condition_record_support_limited 20 0 0 Spondyloepimetaphyseal_dysplasia,_Bieganski_type 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIFM1 mondo_mondo_0000732_medgen_c4540031_omim_ps609060 Combined oxidative phosphorylation deficiency MONDO:MONDO:0000732,MedGen:C4540031,OMIM:PS609060 5 5 1.0000 condition_record_support_limited 20 0 5 Combined_oxidative_phosphorylation_deficiency 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIFM1 charcot_marie_tooth_neuropathy_x Charcot-Marie-Tooth Neuropathy X MedGen:CN118851 5 5 1.0000 condition_record_support_limited 20 0 5 Charcot-Marie-Tooth_Neuropathy_X 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHR condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene AHCY mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 19 low_record_burden_interpretation_limited low_record_burden_gene AGTPBP1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGPS condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 1 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGO1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 5 5 1.0000 condition_record_support_limited 20 5 5 not_provided|not_specified 16 low_record_burden_interpretation_limited low_record_burden_gene AGL medgen_c1968740 Glycogen storage disease IIIb MedGen:C1968740 5 5 1.0000 condition_record_support_limited 20 0 4 Glycogen_storage_disease_IIIb 624 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGL agl_related_disorder AGL-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 5 AGL-related_disorder 624 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGBL5 mondo_mondo_0014871_medgen_c4310759_omim_617023_orphanet_791 Retinitis pigmentosa 75 MONDO:MONDO:0014871,MedGen:C4310759,OMIM:617023,Orphanet:791 5 5 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa_75 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGBL5 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFG2B mondo_mondo_0030480_medgen_c5562023_omim_619615 Hearing loss, autosomal recessive 119 MONDO:MONDO:0030480,MedGen:C5562023,OMIM:619615 5 5 1.0000 condition_record_support_limited 20 0 3 Hearing_loss,_autosomal_recessive_119 21 compact_adjacent_exon_block_opportunity local_compact_architecture ADPRS condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene ADGRV1 monogenic_hearing_loss Monogenic hearing loss . 5 5 1.0000 condition_record_support_limited 20 0 2 Monogenic_hearing_loss 650 large_gene_or_donor_burden_stress_case donor_burden_stress ADGRL1 human_phenotype_ontology_hp_0000729_medgen_c0856975 Autistic behavior Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 5 5 1.0000 condition_record_support_limited 20 0 5 Autistic_behavior 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRL1 human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Attention deficit hyperactivity disorder Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 5 5 1.0000 condition_record_support_limited 20 0 5 Attention_deficit_hyperactivity_disorder 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAT3 mondo_mondo_0014119_medgen_c4750838_omim_615286_orphanet_363528 Intellectual disability-strabismus syndrome MONDO:MONDO:0014119,MedGen:C4750838,OMIM:615286,Orphanet:363528 5 5 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability-strabismus_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene ADAMTSL2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 3 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTS2 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 5 not_provided 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTS15 mondo_mondo_0957819_medgen_c5882704_omim_620545 Arthrogryposis, distal, type 12 MONDO:MONDO:0957819,MedGen:C5882704,OMIM:620545 5 5 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis,_distal,_type_12 5 low_record_burden_interpretation_limited low_record_burden_gene ADAM9 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 5 5 1.0000 condition_record_support_limited 20 0 3 Cone-rod_dystrophy 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTN1 condition_not_provided condition not provided MedGen:C3661900 5 5 1.0000 condition_record_support_limited 20 5 4 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB mondo_mondo_0016986_medgen_c0406819_orphanet_263435 Congenital smooth muscle hamartoma MONDO:MONDO:0016986,MedGen:C0406819,Orphanet:263435 5 5 1.0000 condition_record_support_limited 20 0 3 Congenital_smooth_muscle_hamartoma 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB congenital_smooth_muscle_hamartoma_somatic_mosaic CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC . 5 5 1.0000 condition_record_support_limited 20 0 3 CONGENITAL_SMOOTH_MUSCLE_HAMARTOMA,_SOMATIC,_MOSAIC 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 Neuromuscular disease MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 5 5 1.0000 condition_record_support_limited 20 0 2 Neuromuscular_disease 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 Congenital myopathy MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 5 5 1.0000 condition_record_support_limited 20 0 4 Congenital_myopathy 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACSM3 mondo_mondo_0859272_medgen_c5774194_omim_619989 Neurodevelopmental disorder with speech delay and variable ocular anomalies MONDO:MONDO:0859272,MedGen:C5774194,OMIM:619989 5 5 1.0000 condition_record_support_limited 20 0 4 Neurodevelopmental_disorder_with_speech_delay_and_variable_ocular_anomalies 8 low_record_burden_interpretation_limited low_record_burden_gene ACO2 human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 5 5 1.0000 condition_record_support_limited 20 0 2 Optic_atrophy 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACER3 mondo_mondo_0044718_medgen_c4540358_omim_617762_orphanet_502444 Alkaline ceramidase 3 deficiency MONDO:MONDO:0044718,MedGen:C4540358,OMIM:617762,Orphanet:502444 5 5 1.0000 condition_record_support_limited 20 0 0 Alkaline_ceramidase_3_deficiency 6 low_record_burden_interpretation_limited low_record_burden_gene ACE ace_related_disorder ACE-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 2 ACE-related_disorder 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACBD6 mondo_mondo_0968976_medgen_c5935606_omim_620785 Neurodevelopmental disorder with progressive movement abnormalities MONDO:MONDO:0968976,MedGen:C5935606,OMIM:620785 5 5 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_progressive_movement_abnormalities 15 low_record_burden_interpretation_limited low_record_burden_gene ACADM mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 5 Inborn_genetic_diseases 370 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABHD12 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 5 5 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB11 mondo_mondo_0008892_medgen_c4551898_omim_211600_orphanet_79306 Progressive familial intrahepatic cholestasis type 1 MONDO:MONDO:0008892,MedGen:C4551898,OMIM:211600,Orphanet:79306 5 5 1.0000 condition_record_support_limited 20 0 5 Progressive_familial_intrahepatic_cholestasis_type_1 318 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB11 familial_intrahepatic_cholestasis_type_2 Familial intrahepatic cholestasis type 2 . 5 5 1.0000 condition_record_support_limited 20 0 5 Familial_intrahepatic_cholestasis_type_2 318 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB11 mondo_mondo_0013995_medgen_c3554241_omim_614972_orphanet_69665 Cholestasis, intrahepatic, of pregnancy, 3 MONDO:MONDO:0013995,MedGen:C3554241,OMIM:614972,Orphanet:69665 5 5 1.0000 condition_record_support_limited 20 0 4 Cholestasis,_intrahepatic,_of_pregnancy,_3 318 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCA4 autosomal_recessive_abca4_related_disorders Autosomal recessive ABCA4-related disorders . 5 5 1.0000 condition_record_support_limited 20 0 5 Autosomal_recessive_ABCA4-related_disorders 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA3 abca3_related_disorder ABCA3-related disorder . 5 5 1.0000 condition_record_support_limited 20 0 2 ABCA3-related_disorder 135 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AARS2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 5 5 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZSWIM6 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene ZNF526 mondo_mondo_0859251_medgen_c5676987_omim_619877 Dentici-Novelli neurodevelopmental syndrome MONDO:MONDO:0859251,MedGen:C5676987,OMIM:619877 4 4 1.0000 condition_record_support_limited 20 0 1 Dentici-Novelli_neurodevelopmental_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene ZNF518A mondo_mondo_0013289_medgen_c3150752_omim_613502 Agammaglobulinemia 4, autosomal recessive MONDO:MONDO:0013289,MedGen:C3150752,OMIM:613502 4 4 1.0000 condition_record_support_limited 20 0 0 Agammaglobulinemia_4,_autosomal_recessive 4 low_record_burden_interpretation_limited low_record_burden_gene ZNF462 znf462_related_disorder ZNF462-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 ZNF462-related_disorder 84 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZNF408 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene ZNF292 znf292_related_disorder ZNF292-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 ZNF292-related_disorder 99 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZNF142 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 43 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZMYND11 zmynd11_related_disorder ZMYND11-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 ZMYND11-related_disorder 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZMYM2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 4 4 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZMPSTE24 mondo_mondo_0800042_medgen_c5676878_omim_275210 Restrictive dermopathy 1 MONDO:MONDO:0800042,MedGen:C5676878,OMIM:275210 4 4 1.0000 condition_record_support_limited 20 0 3 Restrictive_dermopathy_1 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZIC3 mondo_mondo_0010752_medgen_c2931228_omim_314390_orphanet_3412 VACTERL association, X-linked, with or without hydrocephalus MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390,Orphanet:3412 4 4 1.0000 condition_record_support_limited 20 0 2 VACTERL_association,_X-linked,_with_or_without_hydrocephalus 41 compact_adjacent_exon_block_opportunity local_compact_architecture ZFYVE26 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 454 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZFP57 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene ZFHX3 zfhx3_related_disorder ZFHX3-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 0 ZFHX3-related_disorder 38 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZDHHC24 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB25 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene ZBTB20 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZAP70 human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 4 4 1.0000 condition_record_support_limited 20 0 3 Severe_combined_immunodeficiency_disease 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YWHAZ mondo_mondo_0979865_medgen_cn380660_omim_618428 Popov-Chang syndrome MONDO:MONDO:0979865,MedGen:CN380660,OMIM:618428 4 4 1.0000 condition_record_support_limited 20 0 0 Popov-Chang_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene YRDC mondo_mondo_0030476_medgen_c5562020_omim_619609 Galloway-Mowat syndrome 10 MONDO:MONDO:0030476,MedGen:C5562020,OMIM:619609 4 4 1.0000 condition_record_support_limited 20 0 0 Galloway-Mowat_syndrome_10 5 low_record_burden_interpretation_limited low_record_burden_gene YIF1B condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene XYLT1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 23 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture XK condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene WWOX mondo_mondo_0007576_medgen_c0546837_omim_133239_orphanet_99977 Malignant tumor of esophagus MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239,Orphanet:99977 4 4 1.0000 condition_record_support_limited 20 0 3 Malignant_tumor_of_esophagus 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WNT7A mondo_mondo_0009232_medgen_c1856728_omim_228930_orphanet_2854 Fuhrmann syndrome MONDO:MONDO:0009232,MedGen:C1856728,OMIM:228930,Orphanet:2854 4 4 1.0000 condition_record_support_limited 20 0 2 Fuhrmann_syndrome 9 low_record_burden_interpretation_limited low_record_burden_gene WNT5A condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene WNT10A wnt10a_related_disorder WNT10A-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 WNT10A-related_disorder 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WNT10A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WLS mondo_mondo_0859209_medgen_c5562037_omim_619648 Zaki syndrome MONDO:MONDO:0859209,MedGen:C5562037,OMIM:619648 4 4 1.0000 condition_record_support_limited 20 0 3 Zaki_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene WDR83OS mondo_mondo_0100327_medgen_c1843139_omim_ps607748 Hypercholanemia, familial MONDO:MONDO:0100327,MedGen:C1843139,OMIM:PS607748 4 4 1.0000 condition_record_support_limited 20 0 3 Hypercholanemia,_familial 5 low_record_burden_interpretation_limited low_record_burden_gene WDR83 mondo_mondo_0100327_medgen_c1843139_omim_ps607748 Hypercholanemia, familial MONDO:MONDO:0100327,MedGen:C1843139,OMIM:PS607748 4 4 1.0000 condition_record_support_limited 20 0 3 Hypercholanemia,_familial 5 low_record_burden_interpretation_limited low_record_burden_gene WDR62 wdr62_related_disorder WDR62-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 WDR62-related_disorder 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR45 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 4 4 1.0000 condition_record_support_limited 20 0 3 Global_developmental_delay 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR37 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability 9 low_record_burden_interpretation_limited low_record_burden_gene WDR37 mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 4 4 1.0000 condition_record_support_limited 20 0 4 Epilepsy 9 low_record_burden_interpretation_limited low_record_burden_gene WDR37 medgen_c1737329 Dysmorphism MedGen:C1737329 4 4 1.0000 condition_record_support_limited 20 0 4 Dysmorphism 9 low_record_burden_interpretation_limited low_record_burden_gene WDR37 medgen_c0424605 Developmental delay MedGen:C0424605 4 4 1.0000 condition_record_support_limited 20 0 4 Developmental_delay 9 low_record_burden_interpretation_limited low_record_burden_gene WDR37 human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Congenital ocular coloboma Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 4 4 1.0000 condition_record_support_limited 20 0 4 Congenital_ocular_coloboma 9 low_record_burden_interpretation_limited low_record_burden_gene WDR37 mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 4 4 1.0000 condition_record_support_limited 20 0 4 Congenital_cerebellar_hypoplasia 9 low_record_burden_interpretation_limited low_record_burden_gene WDR11 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 4 4 1.0000 condition_record_support_limited 20 0 4 Microcephaly 16 low_record_burden_interpretation_limited low_record_burden_gene WBP4 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 4 4 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene WBP11 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WASF1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene WASF1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 12 low_record_burden_interpretation_limited low_record_burden_gene WARS2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene WARS2 mondo_mondo_0030676_medgen_c5676913_omim_619738 Parkinsonism-dystonia 3, childhood-onset MONDO:MONDO:0030676,MedGen:C5676913,OMIM:619738 4 4 1.0000 condition_record_support_limited 20 0 2 Parkinsonism-dystonia_3,_childhood-onset 15 low_record_burden_interpretation_limited low_record_burden_gene WARS1 mondo_mondo_0957218_medgen_c5830413_omim_620317 Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities MONDO:MONDO:0957218,MedGen:C5830413,OMIM:620317 4 4 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_microcephaly_and_speech_delay,_with_or_without_brain_abnormalities 4 low_record_burden_interpretation_limited low_record_burden_gene WAC mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VWF human_phenotype_ontology_hp_0008330_medgen_c4024701 Reduced von Willebrand factor activity Human_Phenotype_Ontology:HP:0008330,MedGen:C4024701 4 4 1.0000 condition_record_support_limited 20 0 4 Reduced_von_Willebrand_factor_activity 454 large_gene_or_donor_burden_stress_case donor_burden_stress VPS50 mondo_mondo_0859216_medgen_c5562052_omim_619685 Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis MONDO:MONDO:0859216,MedGen:C5562052,OMIM:619685 4 4 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_microcephaly,_seizures,_and_neonatal_cholestasis 7 low_record_burden_interpretation_limited low_record_burden_gene VPS4A condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene VPS33B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VPS13B human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 1.0000 condition_record_support_limited 20 0 4 Retinal_dystrophy 996 large_gene_or_donor_burden_stress_case donor_burden_stress VMA12 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene VCP childhood_onset_vcp_related_neurodevelopmental_disorder Childhood Onset VCP-related Neurodevelopmental Disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 Childhood_Onset_VCP-related_Neurodevelopmental_Disorder 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VARS2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VAMP1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene VAMP1 mondo_mondo_0007164_medgen_c1970107_omim_108600_orphanet_251282 Spastic ataxia 1 MONDO:MONDO:0007164,MedGen:C1970107,OMIM:108600,Orphanet:251282 4 4 1.0000 condition_record_support_limited 20 0 3 Spastic_ataxia_1 13 low_record_burden_interpretation_limited low_record_burden_gene USP8 mondo_mondo_0009050_medgen_c0221406_omim_219090_orphanet_96253 Pituitary dependent hypercortisolism MONDO:MONDO:0009050,MedGen:C0221406,OMIM:219090,Orphanet:96253 4 4 1.0000 condition_record_support_limited 20 0 0 Pituitary_dependent_hypercortisolism 5 low_record_burden_interpretation_limited low_record_burden_gene USP7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USP45 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 4 4 1.0000 condition_record_support_limited 20 0 0 Short_stature 6 low_record_burden_interpretation_limited low_record_burden_gene USP18 mondo_mondo_0018828_medgen_c4479376_omim_617397_orphanet_481665 Pseudo-TORCH syndrome 2 MONDO:MONDO:0018828,MedGen:C4479376,OMIM:617397,Orphanet:481665 4 4 1.0000 condition_record_support_limited 20 0 0 Pseudo-TORCH_syndrome_2 4 low_record_burden_interpretation_limited low_record_burden_gene USH2A human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 4 4 1.0000 condition_record_support_limited 20 0 4 Hearing_impairment 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH2A human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 4 4 1.0000 condition_record_support_limited 20 0 4 Cone-rod_dystrophy 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH2A autosomal_recessive_ush2a_related_disorders Autosomal recessive USH2A-related disorders . 4 4 1.0000 condition_record_support_limited 20 0 4 Autosomal_recessive_USH2A-related_disorders 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH1G mondo_mondo_0010168_medgen_c1568247_omim_276900_orphanet_231169_orphanet_886 Usher syndrome type 1 MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886 4 4 1.0000 condition_record_support_limited 20 0 3 Usher_syndrome_type_1 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UQCRC2 mondo_mondo_0014066_medgen_c3554608_omim_615160 Mitochondrial complex III deficiency nuclear type 5 MONDO:MONDO:0014066,MedGen:C3554608,OMIM:615160 4 4 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_III_deficiency_nuclear_type_5 7 low_record_burden_interpretation_limited low_record_burden_gene UQCRB condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene UPF1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene UNC79 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 14 low_record_burden_interpretation_limited low_record_burden_gene UNC45B mondo_mondo_0030927_medgen_c5543038_omim_619178 Myofibrillar myopathy 11 MONDO:MONDO:0030927,MedGen:C5543038,OMIM:619178 4 4 1.0000 condition_record_support_limited 20 0 2 Myofibrillar_myopathy_11 6 low_record_burden_interpretation_limited low_record_burden_gene UGT1A9 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A9 human_phenotype_ontology_hp_0002904_mondo_mondo_0024288_medgen_c0311468 Hyperbilirubinemia Human_Phenotype_Ontology:HP:0002904,MONDO:MONDO:0024288,MedGen:C0311468 4 4 1.0000 condition_record_support_limited 20 0 4 Hyperbilirubinemia 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A8 human_phenotype_ontology_hp_0002904_mondo_mondo_0024288_medgen_c0311468 Hyperbilirubinemia Human_Phenotype_Ontology:HP:0002904,MONDO:MONDO:0024288,MedGen:C0311468 4 4 1.0000 condition_record_support_limited 20 0 4 Hyperbilirubinemia 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A7 human_phenotype_ontology_hp_0002904_mondo_mondo_0024288_medgen_c0311468 Hyperbilirubinemia Human_Phenotype_Ontology:HP:0002904,MONDO:MONDO:0024288,MedGen:C0311468 4 4 1.0000 condition_record_support_limited 20 0 4 Hyperbilirubinemia 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A6 human_phenotype_ontology_hp_0002904_mondo_mondo_0024288_medgen_c0311468 Hyperbilirubinemia Human_Phenotype_Ontology:HP:0002904,MONDO:MONDO:0024288,MedGen:C0311468 4 4 1.0000 condition_record_support_limited 20 0 4 Hyperbilirubinemia 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A5 human_phenotype_ontology_hp_0002904_mondo_mondo_0024288_medgen_c0311468 Hyperbilirubinemia Human_Phenotype_Ontology:HP:0002904,MONDO:MONDO:0024288,MedGen:C0311468 4 4 1.0000 condition_record_support_limited 20 0 4 Hyperbilirubinemia 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A4 human_phenotype_ontology_hp_0002904_mondo_mondo_0024288_medgen_c0311468 Hyperbilirubinemia Human_Phenotype_Ontology:HP:0002904,MONDO:MONDO:0024288,MedGen:C0311468 4 4 1.0000 condition_record_support_limited 20 0 4 Hyperbilirubinemia 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A3 human_phenotype_ontology_hp_0002904_mondo_mondo_0024288_medgen_c0311468 Hyperbilirubinemia Human_Phenotype_Ontology:HP:0002904,MONDO:MONDO:0024288,MedGen:C0311468 4 4 1.0000 condition_record_support_limited 20 0 4 Hyperbilirubinemia 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A10 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A10 human_phenotype_ontology_hp_0002904_mondo_mondo_0024288_medgen_c0311468 Hyperbilirubinemia Human_Phenotype_Ontology:HP:0002904,MONDO:MONDO:0024288,MedGen:C0311468 4 4 1.0000 condition_record_support_limited 20 0 4 Hyperbilirubinemia 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGT1A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 80 compact_adjacent_exon_block_opportunity local_compact_architecture UGT1A1 human_phenotype_ontology_hp_0002904_mondo_mondo_0024288_medgen_c0311468 Hyperbilirubinemia Human_Phenotype_Ontology:HP:0002904,MONDO:MONDO:0024288,MedGen:C0311468 4 4 1.0000 condition_record_support_limited 20 0 4 Hyperbilirubinemia 80 compact_adjacent_exon_block_opportunity local_compact_architecture UFSP2 mondo_mondo_0060702_medgen_c4693799_omim_617974 Spondyloepimetaphyseal dysplasia, di rocco type MONDO:MONDO:0060702,MedGen:C4693799,OMIM:617974 4 4 1.0000 condition_record_support_limited 20 0 2 Spondyloepimetaphyseal_dysplasia,_di_rocco_type 9 low_record_burden_interpretation_limited low_record_burden_gene UBTF condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene UBR1 ubr1_related_disorder UBR1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 UBR1-related_disorder 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture UBE4A mondo_mondo_0859207_medgen_c5562031_omim_619639 Neurodevelopmental disorder with hypotonia and gross motor and speech delay MONDO:MONDO:0859207,MedGen:C5562031,OMIM:619639 4 4 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_hypotonia_and_gross_motor_and_speech_delay 8 low_record_burden_interpretation_limited low_record_burden_gene UBE2T mondo_mondo_0014638_medgen_c4084840_omim_616435_orphanet_84 Fanconi anemia complementation group T MONDO:MONDO:0014638,MedGen:C4084840,OMIM:616435,Orphanet:84 4 4 1.0000 condition_record_support_limited 20 0 0 Fanconi_anemia_complementation_group_T 11 low_record_burden_interpretation_limited low_record_burden_gene UBE2A condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 20 compact_adjacent_exon_block_opportunity local_compact_architecture UBAP1L human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 5 low_record_burden_interpretation_limited low_record_burden_gene UBA5 uba5_related_disorder UBA5-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 UBA5-related_disorder 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBA2 uba2_related_disorder UBA2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 UBA2-related_disorder 28 compact_adjacent_exon_block_opportunity local_compact_architecture TYRP1 tyrp1_related_disorder TYRP1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 TYRP1-related_disorder 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TWIST1 twist1_related_disorder TWIST1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 TWIST1-related_disorder 96 compact_adjacent_exon_block_opportunity local_compact_architecture TWIST1 mondo_mondo_0008391_medgen_c1867146_omim_180750 Robinow-Sorauf syndrome MONDO:MONDO:0008391,MedGen:C1867146,OMIM:180750 4 4 1.0000 condition_record_support_limited 20 0 2 Robinow-Sorauf_syndrome 96 compact_adjacent_exon_block_opportunity local_compact_architecture TULP1 mondo_mondo_0008764_medgen_c2931258_omim_204000_orphanet_65 Leber congenital amaurosis 1 MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65 4 4 1.0000 condition_record_support_limited 20 0 3 Leber_congenital_amaurosis_1 151 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB4A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB3 mondo_mondo_0100154_medgen_cn322634 TUBB3-related tubulinopathy MONDO:MONDO:0100154,MedGen:CN322634 4 4 1.0000 condition_record_support_limited 20 0 4 TUBB3-related_tubulinopathy 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A mondo_mondo_0015148_medgen_c1969029_orphanet_102011 Lissencephaly type 3 MONDO:MONDO:0015148,MedGen:C1969029,Orphanet:102011 4 4 1.0000 condition_record_support_limited 20 0 2 Lissencephaly_type_3 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTN human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Muscular dystrophy Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 4 4 1.0000 condition_record_support_limited 20 0 3 Muscular_dystrophy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN congenital_titinopathy Congenital titinopathy . 4 4 1.0000 condition_record_support_limited 20 0 3 Congenital_titinopathy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTC12 mondo_mondo_0032924_medgen_c5394104_omim_618801 Ciliary dyskinesia, primary, 45 MONDO:MONDO:0032924,MedGen:C5394104,OMIM:618801 4 4 1.0000 condition_record_support_limited 20 0 0 Ciliary_dyskinesia,_primary,_45 8 low_record_burden_interpretation_limited low_record_burden_gene TSPAN1 mondo_mondo_0700068_medgen_cn305639 Myopathy caused by variation in POMGNT1 MONDO:MONDO:0700068,MedGen:CN305639 4 4 1.0000 condition_record_support_limited 20 0 2 Myopathy_caused_by_variation_in_POMGNT1 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSHR human_phenotype_ontology_hp_0000851_mondo_mondo_0018612_medgen_c0010308_orphanet_442 Congenital hypothyroidism Human_Phenotype_Ontology:HP:0000851,MONDO:MONDO:0018612,MedGen:C0010308,Orphanet:442 4 4 1.0000 condition_record_support_limited 20 0 3 Congenital_hypothyroidism 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSC2 mondo_mondo_0008612_medgen_c1854465_omim_191100_orphanet_805 Tuberous sclerosis 1 MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100,Orphanet:805 4 4 1.0000 condition_record_support_limited 20 0 4 Tuberous_sclerosis_1 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TRPV4 mondo_mondo_0015362_medgen_c5548212_omim_ps182960_orphanet_140465 Neuronopathy, distal hereditary motor, autosomal dominant MONDO:MONDO:0015362,MedGen:C5548212,OMIM:PS182960,Orphanet:140465 4 4 1.0000 condition_record_support_limited 20 0 4 Neuronopathy,_distal_hereditary_motor,_autosomal_dominant 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 mondo_mondo_0011732_medgen_c1847406_omim_606835_orphanet_85169 Familial digital arthropathy-brachydactyly MONDO:MONDO:0011732,MedGen:C1847406,OMIM:606835,Orphanet:85169 4 4 1.0000 condition_record_support_limited 20 0 2 Familial_digital_arthropathy-brachydactyly 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 mondo_mondo_0007232_medgen_c0432227_omim_113500_orphanet_93304 Brachyrachia (short spine dysplasia) MONDO:MONDO:0007232,MedGen:C0432227,OMIM:113500,Orphanet:93304 4 4 1.0000 condition_record_support_limited 20 0 4 Brachyrachia_(short_spine_dysplasia) 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPM4 mondo_mondo_0011474_medgen_c1970298_omim_604559_orphanet_871 Progressive familial heart block type IB MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871 4 4 1.0000 condition_record_support_limited 20 0 3 Progressive_familial_heart_block_type_IB 7 low_record_burden_interpretation_limited low_record_burden_gene TRPC6 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 4 4 1.0000 condition_record_support_limited 20 0 4 Nephrotic_syndrome 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 17 low_record_burden_interpretation_limited low_record_burden_gene TRIOBP triobp_related_disorder TRIOBP-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 TRIOBP-related_disorder 100 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRIO human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 175 large_gene_or_donor_burden_stress_case donor_burden_stress TRIM71 mondo_mondo_0032862_medgen_c5231454_omim_618667 Hydrocephalus, congenital communicating, 1 MONDO:MONDO:0032862,MedGen:C5231454,OMIM:618667 4 4 1.0000 condition_record_support_limited 20 0 1 Hydrocephalus,_congenital_communicating,_1 7 low_record_burden_interpretation_limited low_record_burden_gene TRIM28 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene TRIM28 predisposition_to_wilms_tumor Predisposition to Wilms tumor . 4 4 1.0000 condition_record_support_limited 20 0 0 Predisposition_to_Wilms_tumor 12 low_record_burden_interpretation_limited low_record_burden_gene TRAPPC6B condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene TRAPPC4 mondo_mondo_0032894_medgen_c5394027_omim_618741 Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy MONDO:MONDO:0032894,MedGen:C5394027,OMIM:618741 4 4 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_epilepsy,_spasticity,_and_brain_atrophy 4 low_record_burden_interpretation_limited low_record_burden_gene TRAPPC12 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC12 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC10 mondo_mondo_0859285_medgen_c5774211_omim_620027 Neurodevelopmental disorder with microcephaly, short stature, and speech delay MONDO:MONDO:0859285,MedGen:C5774211,OMIM:620027 4 4 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_microcephaly,_short_stature,_and_speech_delay 6 low_record_burden_interpretation_limited low_record_burden_gene TRAK1 mondo_mondo_0032598_medgen_c4748688_omim_618201 Developmental and epileptic encephalopathy, 68 MONDO:MONDO:0032598,MedGen:C4748688,OMIM:618201 4 4 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_68 8 low_record_burden_interpretation_limited low_record_burden_gene TPP1 tpp1_related_disorder TPP1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 TPP1-related_disorder 221 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPI1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene TP63 human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Premature ovarian insufficiency Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 4 4 1.0000 condition_record_support_limited 20 0 4 Premature_ovarian_insufficiency 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP53 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 4 4 1.0000 condition_record_support_limited 20 0 4 Multiple_myeloma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TOGARAM1 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 4 4 1.0000 condition_record_support_limited 20 0 4 Joubert_syndrome 14 low_record_burden_interpretation_limited low_record_burden_gene TNNT3 mondo_mondo_0032750_medgen_c5193097_omim_618435 Arthrogryposis, distal, type 2B2 MONDO:MONDO:0032750,MedGen:C5193097,OMIM:618435 4 4 1.0000 condition_record_support_limited 20 0 2 Arthrogryposis,_distal,_type_2B2 4 low_record_burden_interpretation_limited low_record_burden_gene TNNT2 mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 Primary familial hypertrophic cardiomyopathy MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 4 4 1.0000 condition_record_support_limited 20 0 3 Primary_familial_hypertrophic_cardiomyopathy 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNI3K condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 4 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene TNFRSF13B mondo_mondo_0012291_medgen_c1836032_omim_609529 Immunoglobulin A deficiency 2 MONDO:MONDO:0012291,MedGen:C1836032,OMIM:609529 4 4 1.0000 condition_record_support_limited 20 0 4 Immunoglobulin_A_deficiency_2 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNFAIP3 mondo_mondo_0031384_medgen_cn234876_omim_ps616744 Autoinflammatory syndrome, familial, Behcet-like MONDO:MONDO:0031384,MedGen:CN234876,OMIM:PS616744 4 4 1.0000 condition_record_support_limited 20 0 1 Autoinflammatory_syndrome,_familial,_Behcet-like 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMPRSS3 mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 4 4 1.0000 condition_record_support_limited 20 0 3 Nonsyndromic_genetic_hearing_loss 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMPPE mondo_mondo_0009262_medgen_c0268273_omim_230650_orphanet_79257 GM1 gangliosidosis type 3 MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650,Orphanet:79257 4 4 1.0000 condition_record_support_limited 20 0 4 GM1_gangliosidosis_type_3 13 low_record_burden_interpretation_limited low_record_burden_gene TMPPE mondo_mondo_0009261_medgen_c0268272_omim_230600_orphanet_354_orphanet_79256 GM1 gangliosidosis type 2 MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600,Orphanet:354,Orphanet:79256 4 4 1.0000 condition_record_support_limited 20 0 4 GM1_gangliosidosis_type_2 13 low_record_burden_interpretation_limited low_record_burden_gene TMIE condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene TMEM67 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM63C mondo_mondo_0031019_medgen_c5774182_omim_619966_orphanet_631088 Spastic paraplegia 87, autosomal recessive MONDO:MONDO:0031019,MedGen:C5774182,OMIM:619966,Orphanet:631088 4 4 1.0000 condition_record_support_limited 20 0 0 Spastic_paraplegia_87,_autosomal_recessive 4 low_record_burden_interpretation_limited low_record_burden_gene TMEM63B mondo_mondo_0979238_medgen_c6012741_omim_621250 Developmental and epileptic encephalopathy 118 MONDO:MONDO:0979238,MedGen:C6012741,OMIM:621250 4 4 1.0000 condition_record_support_limited 20 0 3 Developmental_and_epileptic_encephalopathy_118 7 low_record_burden_interpretation_limited low_record_burden_gene TMEM237 tmem237_related_disorder TMEM237-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 TMEM237-related_disorder 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM237 mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 4 4 1.0000 condition_record_support_limited 20 0 3 Joubert_syndrome_and_related_disorders 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM165 mondo_mondo_0013870_medgen_c3553571_omim_614727_orphanet_314667 TMEM165-congenital disorder of glycosylation MONDO:MONDO:0013870,MedGen:C3553571,OMIM:614727,Orphanet:314667 4 4 1.0000 condition_record_support_limited 20 0 0 TMEM165-congenital_disorder_of_glycosylation 5 low_record_burden_interpretation_limited low_record_burden_gene TMEM163 mondo_mondo_0859378_medgen_c5830275_omim_620243 Leukodystrophy, hypomyelinating, 25 MONDO:MONDO:0859378,MedGen:C5830275,OMIM:620243 4 4 1.0000 condition_record_support_limited 20 0 1 Leukodystrophy,_hypomyelinating,_25 4 low_record_burden_interpretation_limited low_record_burden_gene TMEM138 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene TMEM127 medgen_c3149711 Pheochromocytoma, susceptibility to MedGen:C3149711 4 4 1.0000 condition_record_support_limited 20 0 4 Pheochromocytoma,_susceptibility_to 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMC8 mondo_mondo_0032614_medgen_c4722258_omim_618231 Epidermodysplasia verruciformis, susceptibility to, 2 MONDO:MONDO:0032614,MedGen:C4722258,OMIM:618231 4 4 1.0000 condition_record_support_limited 20 0 3 Epidermodysplasia_verruciformis,_susceptibility_to,_2 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TM2D3 tm2d3_related_disorder TM2D3-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 TM2D3-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene TLL1 mondo_mondo_0013123_medgen_c2751315_omim_613087_orphanet_1478 Atrial septal defect 6 MONDO:MONDO:0013123,MedGen:C2751315,OMIM:613087,Orphanet:1478 4 4 1.0000 condition_record_support_limited 20 0 0 Atrial_septal_defect_6 4 low_record_burden_interpretation_limited low_record_burden_gene TJP2 tjp2_related_disorder TJP2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 TJP2-related_disorder 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TJP2 mondo_mondo_0031446_medgen_c5542604_omim_607748_orphanet_238475 Hypercholanemia, familial 1 MONDO:MONDO:0031446,MedGen:C5542604,OMIM:607748,Orphanet:238475 4 4 1.0000 condition_record_support_limited 20 0 4 Hypercholanemia,_familial_1 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TIMP3 mondo_mondo_0007640_medgen_c1850938_omim_136900_orphanet_59181 Sorsby fundus dystrophy MONDO:MONDO:0007640,MedGen:C1850938,OMIM:136900,Orphanet:59181 4 4 1.0000 condition_record_support_limited 20 0 3 Sorsby_fundus_dystrophy 11 low_record_burden_interpretation_limited low_record_burden_gene TIMP3 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy 11 low_record_burden_interpretation_limited low_record_burden_gene TIMMDC1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene TIMM8A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 25 compact_adjacent_exon_block_opportunity local_compact_architecture THSD1 mondo_mondo_0859379_medgen_c5830279_omim_620244 Lymphatic malformation 13 MONDO:MONDO:0859379,MedGen:C5830279,OMIM:620244 4 4 1.0000 condition_record_support_limited 20 0 1 Lymphatic_malformation_13 6 low_record_burden_interpretation_limited low_record_burden_gene THRB mondo_mondo_0001328_medgen_c2940786 Thyroid hormone resistance syndrome MONDO:MONDO:0001328,MedGen:C2940786 4 4 1.0000 condition_record_support_limited 20 0 4 Thyroid_hormone_resistance_syndrome 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture THPO mondo_mondo_0008554_medgen_c3277671_omim_187950 Thrombocythemia 1 MONDO:MONDO:0008554,MedGen:C3277671,OMIM:187950 4 4 1.0000 condition_record_support_limited 20 0 2 Thrombocythemia_1 17 low_record_burden_interpretation_limited low_record_burden_gene THOC6 thoc6_related_disorder THOC6-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 THOC6-related_disorder 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR2 mondo_mondo_0013695_medgen_c1860896_omim_614331_orphanet_144 Colorectal cancer, hereditary nonpolyposis, type 6 MONDO:MONDO:0013695,MedGen:C1860896,OMIM:614331,Orphanet:144 4 4 1.0000 condition_record_support_limited 20 0 3 Colorectal_cancer,_hereditary_nonpolyposis,_type_6 130 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBI mondo_mondo_0011185_medgen_c1562894_omim_602082_orphanet_98960 Thiel-Behnke corneal dystrophy MONDO:MONDO:0011185,MedGen:C1562894,OMIM:602082,Orphanet:98960 4 4 1.0000 condition_record_support_limited 20 0 3 Thiel-Behnke_corneal_dystrophy 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBI mondo_mondo_0007377_medgen_c1641846_omim_121900_orphanet_98962 Groenouw corneal dystrophy type I MONDO:MONDO:0007377,MedGen:C1641846,OMIM:121900,Orphanet:98962 4 4 1.0000 condition_record_support_limited 20 0 3 Groenouw_corneal_dystrophy_type_I 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBI mondo_mondo_0000764_medgen_cn322643 Epithelial-stromal TGFBI dystrophy MONDO:MONDO:0000764,MedGen:CN322643 4 4 1.0000 condition_record_support_limited 20 0 2 Epithelial-stromal_TGFBI_dystrophy 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBI human_phenotype_ontology_hp_0007690_mondo_mondo_0007375_medgen_c0521723_omim_121820_orphanet_98956 Epithelial basement membrane dystrophy Human_Phenotype_Ontology:HP:0007690,MONDO:MONDO:0007375,MedGen:C0521723,OMIM:121820,Orphanet:98956 4 4 1.0000 condition_record_support_limited 20 0 3 Epithelial_basement_membrane_dystrophy 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBI mondo_mondo_0011855_medgen_c1275685_omim_607541_orphanet_98963 Avellino corneal dystrophy MONDO:MONDO:0011855,MedGen:C1275685,OMIM:607541,Orphanet:98963 4 4 1.0000 condition_record_support_limited 20 0 4 Avellino_corneal_dystrophy 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFB3 mondo_mondo_0018954_medgen_c2697932_omim_ps609192_orphanet_60030 Loeys-Dietz syndrome MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030 4 4 1.0000 condition_record_support_limited 20 0 3 Loeys-Dietz_syndrome 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFB2 familial_aortopathy Familial aortopathy MedGen:CN078214 4 4 1.0000 condition_record_support_limited 20 0 2 Familial_aortopathy 112 compact_adjacent_exon_block_opportunity local_compact_architecture TGFB1 mondo_mondo_0032601_medgen_c4748708_omim_618213_orphanet_565788 Inflammatory bowel disease, immunodeficiency, and encephalopathy MONDO:MONDO:0032601,MedGen:C4748708,OMIM:618213,Orphanet:565788 4 4 1.0000 condition_record_support_limited 20 0 3 Inflammatory_bowel_disease,_immunodeficiency,_and_encephalopathy 11 low_record_burden_interpretation_limited low_record_burden_gene TFG condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene TFG mondo_mondo_0014295_medgen_c3714897_omim_615658_orphanet_431329 Hereditary spastic paraplegia 57 MONDO:MONDO:0014295,MedGen:C3714897,OMIM:615658,Orphanet:431329 4 4 1.0000 condition_record_support_limited 20 0 4 Hereditary_spastic_paraplegia_57 5 low_record_burden_interpretation_limited low_record_burden_gene TFG mondo_mondo_0011468_medgen_c1858338_omim_604484_orphanet_90117 Hereditary motor and sensory neuropathy, Okinawa type MONDO:MONDO:0011468,MedGen:C1858338,OMIM:604484,Orphanet:90117 4 4 1.0000 condition_record_support_limited 20 0 4 Hereditary_motor_and_sensory_neuropathy,_Okinawa_type 5 low_record_burden_interpretation_limited low_record_burden_gene TFAP2B mondo_mondo_0014878_medgen_c4284595_omim_617035 Patent ductus arteriosus 2 MONDO:MONDO:0014878,MedGen:C4284595,OMIM:617035 4 4 1.0000 condition_record_support_limited 20 0 2 Patent_ductus_arteriosus_2 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFAP2B human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 4 4 1.0000 condition_record_support_limited 20 0 0 Craniosynostosis_syndrome 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TET3 tet3_related_disorder TET3-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 0 TET3-related_disorder 52 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TET2 mondo_mondo_0018881_mesh_d009190_medgen_c3463824_omim_614286_orphanet_52688 Myelodysplastic syndrome MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688 4 4 1.0000 condition_record_support_limited 20 0 2 Myelodysplastic_syndrome 178 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TERT mondo_mondo_0007485_medgen_c4551974_omim_127550_orphanet_1775 Dyskeratosis congenita, autosomal dominant 1 MONDO:MONDO:0007485,MedGen:C4551974,OMIM:127550,Orphanet:1775 4 4 1.0000 condition_record_support_limited 20 0 3 Dyskeratosis_congenita,_autosomal_dominant_1 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TENM3 medgen_c5193017 MICROPHTHALMIA, SYNDROMIC 15 MedGen:C5193017 4 4 1.0000 condition_record_support_limited 20 0 2 MICROPHTHALMIA,_SYNDROMIC_15 10 low_record_burden_interpretation_limited low_record_burden_gene TEK human_phenotype_ontology_hp_0012721_medgen_c2937220 Venous malformation Human_Phenotype_Ontology:HP:0012721,MedGen:C2937220 4 4 1.0000 condition_record_support_limited 20 0 0 Venous_malformation 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TEK segmental_undergrowth_associated_with_venous_malformation_without_capillary_component Segmental undergrowth associated with venous malformation without capillary component . 4 4 1.0000 condition_record_support_limited 20 0 2 Segmental_undergrowth_associated_with_venous_malformation_without_capillary_component 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TECTA mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 4 4 1.0000 condition_record_support_limited 20 0 3 Nonsyndromic_genetic_hearing_loss 123 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TDRD9 mondo_mondo_0020851_medgen_c4748224_omim_618110 Spermatogenic failure 30 MONDO:MONDO:0020851,MedGen:C4748224,OMIM:618110 4 4 1.0000 condition_record_support_limited 20 0 1 Spermatogenic_failure_30 10 low_record_burden_interpretation_limited low_record_burden_gene TDRD12 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 4 4 1.0000 condition_record_support_limited 20 0 0 Male_infertility 4 low_record_burden_interpretation_limited low_record_burden_gene TDP1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene TCTN3 tctn3_related_disorder TCTN3-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 TCTN3-related_disorder 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCP1 mondo_mondo_0976124_medgen_c5975535_omim_621021 Intellectual developmental disorder with polymicrogyria and seizures MONDO:MONDO:0976124,MedGen:C5975535,OMIM:621021 4 4 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder_with_polymicrogyria_and_seizures 5 low_record_burden_interpretation_limited low_record_burden_gene TCOF1 mondo_mondo_0002457_medgen_c0242387_omim_ps154500_orphanet_861 Treacher Collins syndrome MONDO:MONDO:0002457,MedGen:C0242387,OMIM:PS154500,Orphanet:861 4 4 1.0000 condition_record_support_limited 20 0 3 Treacher_Collins_syndrome 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF7L2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 13 low_record_burden_interpretation_limited low_record_burden_gene TCF4 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF4 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 4 4 1.0000 condition_record_support_limited 20 0 3 Global_developmental_delay 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF3 mondo_mondo_0014840_medgen_c4310786_omim_616941 Agammaglobulinemia 8, autosomal dominant MONDO:MONDO:0014840,MedGen:C4310786,OMIM:616941 4 4 1.0000 condition_record_support_limited 20 0 1 Agammaglobulinemia_8,_autosomal_dominant 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX6 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX4 mondo_mondo_0011054_medgen_c1832432_omim_601360_orphanet_1027 Autosomal recessive amelia MONDO:MONDO:0011054,MedGen:C1832432,OMIM:601360,Orphanet:1027 4 4 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_amelia 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 37 compact_adjacent_exon_block_opportunity local_compact_architecture TBX22 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene TBR1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBC1D32 mondo_mondo_0979574_medgen_c6012755_omim_621280 Retinitis pigmentosa 100 MONDO:MONDO:0979574,MedGen:C6012755,OMIM:621280 4 4 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa_100 19 low_record_burden_interpretation_limited low_record_burden_gene TBC1D32 mondo_mondo_0009795_medgen_c0796102_omim_258865_orphanet_141007 Orofaciodigital syndrome IX MONDO:MONDO:0009795,MedGen:C0796102,OMIM:258865,Orphanet:141007 4 4 1.0000 condition_record_support_limited 20 0 2 Orofaciodigital_syndrome_IX 19 low_record_burden_interpretation_limited low_record_burden_gene TASP1 mondo_mondo_0033532_medgen_c5436458_omim_618950 Suleiman-El-Hattab syndrome MONDO:MONDO:0033532,MedGen:C5436458,OMIM:618950 4 4 1.0000 condition_record_support_limited 20 0 1 Suleiman-El-Hattab_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene TARS1 mondo_mondo_0032806_medgen_c5231403_omim_618546 Trichothiodystrophy 7, nonphotosensitive MONDO:MONDO:0032806,MedGen:C5231403,OMIM:618546 4 4 1.0000 condition_record_support_limited 20 0 0 Trichothiodystrophy_7,_nonphotosensitive 5 low_record_burden_interpretation_limited low_record_burden_gene TAPT1 mondo_mondo_0014821_medgen_c4225162_omim_616897_orphanet_457378 Complex lethal osteochondrodysplasia MONDO:MONDO:0014821,MedGen:C4225162,OMIM:616897,Orphanet:457378 4 4 1.0000 condition_record_support_limited 20 0 0 Complex_lethal_osteochondrodysplasia 9 low_record_burden_interpretation_limited low_record_burden_gene TAPBPL condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene TAPBPL mondo_mondo_0007164_medgen_c1970107_omim_108600_orphanet_251282 Spastic ataxia 1 MONDO:MONDO:0007164,MedGen:C1970107,OMIM:108600,Orphanet:251282 4 4 1.0000 condition_record_support_limited 20 0 3 Spastic_ataxia_1 13 low_record_burden_interpretation_limited low_record_burden_gene TAP2 mondo_mondo_0971011_medgen_c5935617_omim_620813 MHC class I deficiency 2 MONDO:MONDO:0971011,MedGen:C5935617,OMIM:620813 4 4 1.0000 condition_record_support_limited 20 0 2 MHC_class_I_deficiency_2 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TANGO2 human_phenotype_ontology_hp_0008942_medgen_c3807306 Acute rhabdomyolysis Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 4 4 1.0000 condition_record_support_limited 20 0 4 Acute_rhabdomyolysis 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TANC2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TANC2 medgen_c0424605 Developmental delay MedGen:C0424605 4 4 1.0000 condition_record_support_limited 20 0 2 Developmental_delay 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TAB2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYT2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene SYN3 mondo_mondo_0007640_medgen_c1850938_omim_136900_orphanet_59181 Sorsby fundus dystrophy MONDO:MONDO:0007640,MedGen:C1850938,OMIM:136900,Orphanet:59181 4 4 1.0000 condition_record_support_limited 20 0 3 Sorsby_fundus_dystrophy 12 low_record_burden_interpretation_limited low_record_burden_gene SYN3 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy 12 low_record_burden_interpretation_limited low_record_burden_gene SVBP mondo_mondo_0032816_medgen_c5231413_omim_618569 Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly MONDO:MONDO:0032816,MedGen:C5231413,OMIM:618569 4 4 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_ataxia,_hypotonia,_and_microcephaly 6 low_record_burden_interpretation_limited low_record_burden_gene SUZ12 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUOX condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUCLG1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 4 4 1.0000 condition_record_support_limited 20 0 4 Seizure 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STX3 mondo_mondo_0859170_medgen_c5561943_omim_619446 Retinal dystrophy and microvillus inclusion disease MONDO:MONDO:0859170,MedGen:C5561943,OMIM:619446 4 4 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy_and_microvillus_inclusion_disease 12 low_record_burden_interpretation_limited low_record_burden_gene STX1B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STX11 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STRC mondo_mondo_0012621_medgen_c1970187_omim_611102_orphanet_94064 Deafness-infertility syndrome MONDO:MONDO:0012621,MedGen:C1970187,OMIM:611102,Orphanet:94064 4 4 1.0000 condition_record_support_limited 20 0 4 Deafness-infertility_syndrome 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture STRADA condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STK11 human_phenotype_ontology_hp_0002861_human_phenotype_ontology_hp_0002887_human_phenotype_ontology_hp_0006777_human_phenotype_ontology_hp_0007474_mondo_mondo_0005105_mesh_d008545_medgen_c0025202 Melanoma Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202 4 4 1.0000 condition_record_support_limited 20 0 1 Melanoma 395 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control STK11 mondo_mondo_0016248_medgen_c5679802 Familial ovarian cancer MONDO:MONDO:0016248,MedGen:C5679802 4 4 1.0000 condition_record_support_limited 20 0 2 Familial_ovarian_cancer 395 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control STAT5B condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAG3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAC3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene SSBP1 mondo_mondo_0008135_medgen_c5435585_omim_165510 Optic atrophy 13 with retinal and foveal abnormalities MONDO:MONDO:0008135,MedGen:C5435585,OMIM:165510 4 4 1.0000 condition_record_support_limited 20 0 2 Optic_atrophy_13_with_retinal_and_foveal_abnormalities 4 low_record_burden_interpretation_limited low_record_burden_gene SRFBP1 mondo_mondo_0024559_medgen_c0345050_omim_607086_orphanet_229 Congenital aneurysm of ascending aorta MONDO:MONDO:0024559,MedGen:C0345050,OMIM:607086,Orphanet:229 4 4 1.0000 condition_record_support_limited 20 0 4 Congenital_aneurysm_of_ascending_aorta 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SRFBP1 medgen_c0241868 Acute aortic dissection MedGen:C0241868 4 4 1.0000 condition_record_support_limited 20 0 4 Acute_aortic_dissection 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SREBF1 mondo_mondo_0008017_medgen_c1274795_omim_158310_orphanet_1839 Hereditary mucoepithelial dysplasia MONDO:MONDO:0008017,MedGen:C1274795,OMIM:158310,Orphanet:1839 4 4 1.0000 condition_record_support_limited 20 0 2 Hereditary_mucoepithelial_dysplasia 6 low_record_burden_interpretation_limited low_record_burden_gene SRCAP srcap_related_disorder SRCAP-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 SRCAP-related_disorder 111 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SQSTM1 sqstm1_related_disorder SQSTM1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 SQSTM1-related_disorder 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPTLC2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene SPTLC1 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 4 4 1.0000 condition_record_support_limited 20 0 4 Charcot-Marie-Tooth_disease 14 low_record_burden_interpretation_limited low_record_burden_gene SPTBN4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 33 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTB mondo_mondo_0019350_medgen_c0037889_orphanet_822 Hereditary spherocytosis MONDO:MONDO:0019350,MedGen:C0037889,Orphanet:822 4 4 1.0000 condition_record_support_limited 20 0 0 Hereditary_spherocytosis 557 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPRED2 mondo_mondo_0030679_medgen_c5676916_omim_619745 Noonan syndrome 14 MONDO:MONDO:0030679,MedGen:C5676916,OMIM:619745 4 4 1.0000 condition_record_support_limited 20 0 3 Noonan_syndrome_14 4 low_record_burden_interpretation_limited low_record_burden_gene SPOP mondo_mondo_0032943_medgen_c5394221_omim_618829_orphanet_662175 Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies MONDO:MONDO:0032943,MedGen:C5394221,OMIM:618829,Orphanet:662175 4 4 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_relative_macrocephaly_and_with_or_without_cardiac_or_endocrine_anomalies 12 low_record_burden_interpretation_limited low_record_burden_gene SPG21 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 4 4 1.0000 condition_record_support_limited 20 0 3 Hereditary_spastic_paraplegia 13 low_record_burden_interpretation_limited low_record_burden_gene SPECC1L condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene SPAST human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 4 4 1.0000 condition_record_support_limited 20 0 1 Spastic_paraplegia 615 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPAG8 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene SP9 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability 5 low_record_burden_interpretation_limited low_record_burden_gene SOX9 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 134 compact_adjacent_exon_block_opportunity local_compact_architecture SOX9 mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 4 4 1.0000 condition_record_support_limited 20 0 1 Connective_tissue_disorder 134 compact_adjacent_exon_block_opportunity local_compact_architecture SOX6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX4 mild_facial_and_digital_morphological_abnormalities Mild facial and digital morphological abnormalities . 4 4 1.0000 condition_record_support_limited 20 0 4 Mild_facial_and_digital_morphological_abnormalities 25 single_exon_hotspot_opportunity local_compact_architecture SOX4 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability 25 single_exon_hotspot_opportunity local_compact_architecture SOX4 medgen_c0424605 Developmental delay MedGen:C0424605 4 4 1.0000 condition_record_support_limited 20 0 4 Developmental_delay 25 single_exon_hotspot_opportunity local_compact_architecture SOX18 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene SOX18 mondo_mondo_0011914_medgen_c1843004_omim_607823_orphanet_69735 Hypotrichosis-lymphedema-telangiectasia syndrome MONDO:MONDO:0011914,MedGen:C1843004,OMIM:607823,Orphanet:69735 4 4 1.0000 condition_record_support_limited 20 0 2 Hypotrichosis-lymphedema-telangiectasia_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene SOX11 human_phenotype_ontology_hp_0000044_human_phenotype_ontology_hp_0003335_human_phenotype_ontology_hp_0008224_mondo_mondo_0018555_medgen_c0271623_omim_ps147950_orphanet_432 Hypogonadotropic hypogonadism Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432 4 4 1.0000 condition_record_support_limited 20 0 0 Hypogonadotropic_hypogonadism 84 single_exon_hotspot_opportunity local_compact_architecture SOX10 mondo_mondo_0008671_medgen_c1860339_omim_193510_orphanet_3440 Waardenburg syndrome type 2A MONDO:MONDO:0008671,MedGen:C1860339,OMIM:193510,Orphanet:3440 4 4 1.0000 condition_record_support_limited 20 0 1 Waardenburg_syndrome_type_2A 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX10 monogenic_hearing_loss Monogenic hearing loss . 4 4 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX10 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOD1 human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Amyotrophic lateral sclerosis Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 4 4 1.0000 condition_record_support_limited 20 0 3 Amyotrophic_lateral_sclerosis 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNX22 mondo_mondo_0009805_medgen_c1850169_omim_259440 Osteogenesis imperfecta type 9 MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440 4 4 1.0000 condition_record_support_limited 20 0 3 Osteogenesis_imperfecta_type_9 10 low_record_burden_interpretation_limited low_record_burden_gene SNX22 mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 Osteogenesis imperfecta MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 4 4 1.0000 condition_record_support_limited 20 0 2 Osteogenesis_imperfecta 10 low_record_burden_interpretation_limited low_record_burden_gene SNF8 mondo_mondo_0968946_medgen_c5935604_omim_620783 Developmental and epileptic encephalopathy 115 MONDO:MONDO:0968946,MedGen:C5935604,OMIM:620783 4 4 1.0000 condition_record_support_limited 20 0 4 Developmental_and_epileptic_encephalopathy_115 6 low_record_burden_interpretation_limited low_record_burden_gene SNAP25 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 4 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMPX mondo_mondo_0024771_medgen_c5676880_omim_301075_orphanet_700163 Myopathy, distal, 7, adult-onset, X-linked MONDO:MONDO:0024771,MedGen:C5676880,OMIM:301075,Orphanet:700163 4 4 1.0000 condition_record_support_limited 20 0 1 Myopathy,_distal,_7,_adult-onset,_X-linked 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMN1 mondo_mondo_0010056_medgen_c1838230_omim_271150_orphanet_83420 Spinal muscular atrophy, type IV MONDO:MONDO:0010056,MedGen:C1838230,OMIM:271150,Orphanet:83420 4 4 1.0000 condition_record_support_limited 20 0 3 Spinal_muscular_atrophy,_type_IV 79 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation SMG9 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene SMG9 mondo_mondo_0859274_medgen_c5774196_omim_619995 Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies MONDO:MONDO:0859274,MedGen:C5774196,OMIM:619995 4 4 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_intention_tremor,_pyramidal_signs,_dyspraxia,_and_ocular_anomalies 12 low_record_burden_interpretation_limited low_record_burden_gene SMCHD1 smchd1_related_disorder SMCHD1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 SMCHD1-related_disorder 140 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SMARCB1 smarcb1_related_disorder SMARCB1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 SMARCB1-related_disorder 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCAL1 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 4 4 1.0000 condition_record_support_limited 20 0 2 Nephrotic_syndrome 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCAD1 human_phenotype_ontology_hp_0007455_mondo_mondo_0007619_medgen_c1852150_omim_136000_orphanet_289465 Adermatoglyphia Human_Phenotype_Ontology:HP:0007455,MONDO:MONDO:0007619,MedGen:C1852150,OMIM:136000,Orphanet:289465 4 4 1.0000 condition_record_support_limited 20 0 3 Adermatoglyphia 7 low_record_burden_interpretation_limited low_record_burden_gene SMARCA2 smarca2_related_disorder SMARCA2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 SMARCA2-related_disorder 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD6 mondo_mondo_0100183_medgen_c5241445_omim_179300 Radioulnar synostosis, nonsyndromic, susceptibility to MONDO:MONDO:0100183,MedGen:C5241445,OMIM:179300 4 4 1.0000 condition_record_support_limited 20 0 4 Radioulnar_synostosis,_nonsyndromic,_susceptibility_to 82 compact_adjacent_exon_block_opportunity local_compact_architecture SLX4 mondo_mondo_0009215_medgen_c3469521_omim_227650_orphanet_84 Fanconi anemia complementation group A MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84 4 4 1.0000 condition_record_support_limited 20 0 1 Fanconi_anemia_complementation_group_A 153 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SLITRK2 mondo_mondo_0957203_medgen_c5829568_omim_301107 Intellectual developmental disorder, X-linked 111 MONDO:MONDO:0957203,MedGen:C5829568,OMIM:301107 4 4 1.0000 condition_record_support_limited 20 0 4 Intellectual_developmental_disorder,_X-linked_111 5 low_record_burden_interpretation_limited low_record_burden_gene SLC6A3 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene SLC6A19 mondo_mondo_0009448_medgen_c0268654_omim_242600_orphanet_42062 Iminoglycinuria MONDO:MONDO:0009448,MedGen:C0268654,OMIM:242600,Orphanet:42062 4 4 1.0000 condition_record_support_limited 20 0 4 Iminoglycinuria 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC40A1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 4 not_provided 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC39A8 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene SLC39A7 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene SLC35A1 mondo_mondo_0011342_medgen_c1970344_omim_603585_orphanet_238459 SLC35A1-congenital disorder of glycosylation MONDO:MONDO:0011342,MedGen:C1970344,OMIM:603585,Orphanet:238459 4 4 1.0000 condition_record_support_limited 20 0 0 SLC35A1-congenital_disorder_of_glycosylation 4 low_record_burden_interpretation_limited low_record_burden_gene SLC2A2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A10 familial_aortopathy Familial aortopathy MedGen:CN078214 4 4 1.0000 condition_record_support_limited 20 0 4 Familial_aortopathy 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A5 mondo_mondo_0013471_medgen_c3151230_omim_613865_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 61 MONDO:MONDO:0013471,MedGen:C3151230,OMIM:613865,Orphanet:90636 4 4 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_nonsyndromic_hearing_loss_61 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 631 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A2 mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 4 4 1.0000 condition_record_support_limited 20 0 4 Connective_tissue_disorder 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A2 mondo_mondo_0009927_medgen_c0796279_omim_265050_orphanet_293843 3MC syndrome 2 MONDO:MONDO:0009927,MedGen:C0796279,OMIM:265050,Orphanet:293843 4 4 1.0000 condition_record_support_limited 20 0 4 3MC_syndrome_2 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A46 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 4 not_provided 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A4 mondo_mondo_0014959_medgen_c4310676_omim_617184 Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant MONDO:MONDO:0014959,MedGen:C4310676,OMIM:617184 4 4 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_DNA_depletion_syndrome_12A_(cardiomyopathic_type),_autosomal_dominant 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A3 mondo_mondo_0012557_medgen_c1835845_omim_610773_orphanet_91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome MONDO:MONDO:0012557,MedGen:C1835845,OMIM:610773,Orphanet:91130 4 4 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy-hypotonia-lactic_acidosis_syndrome 12 low_record_burden_interpretation_limited low_record_burden_gene SLC25A22 mondo_mondo_0012245_medgen_c5574665_omim_609304 Developmental and epileptic encephalopathy, 3 MONDO:MONDO:0012245,MedGen:C5574665,OMIM:609304 4 4 1.0000 condition_record_support_limited 20 0 2 Developmental_and_epileptic_encephalopathy,_3 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A19 mondo_mondo_0011790_medgen_c1846648_omim_607196_orphanet_99742 Amish lethal microcephaly MONDO:MONDO:0011790,MedGen:C1846648,OMIM:607196,Orphanet:99742 4 4 1.0000 condition_record_support_limited 20 0 1 Amish_lethal_microcephaly 14 low_record_burden_interpretation_limited low_record_burden_gene SLC25A15 slc25a15_related_disorder SLC25A15-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 SLC25A15-related_disorder 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A1 mondo_mondo_0032596_medgen_c4748678_omim_618197 Myasthenic syndrome, congenital, 23, presynaptic MONDO:MONDO:0032596,MedGen:C4748678,OMIM:618197 4 4 1.0000 condition_record_support_limited 20 0 1 Myasthenic_syndrome,_congenital,_23,_presynaptic 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A1 mondo_mondo_0016001_medgen_c2746066_orphanet_19_orphanet_356978 2-hydroxyglutaric aciduria MONDO:MONDO:0016001,MedGen:C2746066,Orphanet:19,Orphanet:356978 4 4 1.0000 condition_record_support_limited 20 0 4 2-hydroxyglutaric_aciduria 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC24A4 mondo_mondo_0014385_medgen_c4014578_omim_615887_orphanet_88661 Amelogenesis imperfecta hypomaturation type 2A5 MONDO:MONDO:0014385,MedGen:C4014578,OMIM:615887,Orphanet:88661 4 4 1.0000 condition_record_support_limited 20 0 0 Amelogenesis_imperfecta_hypomaturation_type_2A5 5 low_record_burden_interpretation_limited low_record_burden_gene SLC1A2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene SLC18A2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene SLC16A1 medgen_c4016684 Monocarboxylate transporter 1 deficiency, autosomal dominant MedGen:C4016684 4 4 1.0000 condition_record_support_limited 20 0 3 Monocarboxylate_transporter_1_deficiency,_autosomal_dominant 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC13A3 mondo_mondo_0032716_medgen_c5193068_omim_618384_orphanet_615964 Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate MONDO:MONDO:0032716,MedGen:C5193068,OMIM:618384,Orphanet:615964 4 4 1.0000 condition_record_support_limited 20 0 0 Leukoencephalopathy,_acute_reversible,_with_increased_urinary_alpha-ketoglutarate 4 low_record_burden_interpretation_limited low_record_burden_gene SLC12A6 slc12a6_related_disorder SLC12A6-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 SLC12A6-related_disorder 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SIX6 mondo_mondo_0008927_medgen_c4225424_omim_212550_orphanet_435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome MONDO:MONDO:0008927,MedGen:C4225424,OMIM:212550,Orphanet:435930 4 4 1.0000 condition_record_support_limited 20 0 1 Colobomatous_optic_disc-macular_atrophy-chorioretinopathy_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene SIN3A mondo_mondo_0044699_medgen_cn258628_orphanet_500163 SIN3A-related intellectual disability syndrome MONDO:MONDO:0044699,MedGen:CN258628,Orphanet:500163 4 4 1.0000 condition_record_support_limited 20 0 2 SIN3A-related_intellectual_disability_syndrome 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SIM1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene SIM1 sim1_related_disorder SIM1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 0 SIM1-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene SHOC2 mondo_mondo_0054637_medgen_c4478716_omim_607721_orphanet_2701 Noonan syndrome-like disorder with loose anagen hair 1 MONDO:MONDO:0054637,MedGen:C4478716,OMIM:607721,Orphanet:2701 4 4 1.0000 condition_record_support_limited 20 0 2 Noonan_syndrome-like_disorder_with_loose_anagen_hair_1 6 low_record_burden_interpretation_limited low_record_burden_gene SHOC1 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 4 4 1.0000 condition_record_support_limited 20 0 0 Male_infertility 13 low_record_burden_interpretation_limited low_record_burden_gene SHANK1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 19 low_record_burden_interpretation_limited low_record_burden_gene SFTPA1 mondo_mondo_0030608_medgen_c5562021_omim_619611 Interstitial lung disease 1 MONDO:MONDO:0030608,MedGen:C5562021,OMIM:619611 4 4 1.0000 condition_record_support_limited 20 0 0 Interstitial_lung_disease_1 4 low_record_burden_interpretation_limited low_record_burden_gene SERPINH1 mondo_mondo_0013459_medgen_c3151211_omim_613848_orphanet_666 Osteogenesis imperfecta type 10 MONDO:MONDO:0013459,MedGen:C3151211,OMIM:613848,Orphanet:666 4 4 1.0000 condition_record_support_limited 20 0 1 Osteogenesis_imperfecta_type_10 13 low_record_burden_interpretation_limited low_record_burden_gene SERPING1 serping1_related_disorder SERPING1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 SERPING1-related_disorder 374 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEPSECS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SELENON mondo_mondo_0800341_medgen_cn178536_omim_255310 Congenital myopathy 4A, autosomal dominant MONDO:MONDO:0800341,MedGen:CN178536,OMIM:255310 4 4 1.0000 condition_record_support_limited 20 0 4 Congenital_myopathy_4A,_autosomal_dominant 112 compact_adjacent_exon_block_opportunity local_compact_architecture SELENOI mondo_mondo_0032905_medgen_c5394033_omim_618768 Spastic paraplegia 81, autosomal recessive MONDO:MONDO:0032905,MedGen:C5394033,OMIM:618768 4 4 1.0000 condition_record_support_limited 20 0 0 Spastic_paraplegia_81,_autosomal_recessive 4 low_record_burden_interpretation_limited low_record_burden_gene SELENBP1 mondo_mondo_0029144_medgen_c4748387_omim_618148 Extraoral halitosis due to methanethiol oxidase deficiency MONDO:MONDO:0029144,MedGen:C4748387,OMIM:618148 4 4 1.0000 condition_record_support_limited 20 0 3 Extraoral_halitosis_due_to_methanethiol_oxidase_deficiency 4 low_record_burden_interpretation_limited low_record_burden_gene SEC61A1 mondo_mondo_0014891_medgen_c4310741_omim_617056 Hyperuricemic nephropathy, familial juvenile type 4 MONDO:MONDO:0014891,MedGen:C4310741,OMIM:617056 4 4 1.0000 condition_record_support_limited 20 0 0 Hyperuricemic_nephropathy,_familial_juvenile_type_4 9 low_record_burden_interpretation_limited low_record_burden_gene SDHA mondo_mondo_0017366_medgen_c4274332_omim_ps168000_orphanet_29072 Hereditary pheochromocytoma and paraganglioma MONDO:MONDO:0017366,MedGen:C4274332,OMIM:PS168000,Orphanet:29072 4 4 1.0000 condition_record_support_limited 20 0 3 Hereditary_pheochromocytoma_and_paraganglioma 320 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SCNN1G mondo_mondo_0859318_medgen_c5774256_omim_620126 Pseudohypoaldosteronism, type IB3, autosomal recessive MONDO:MONDO:0859318,MedGen:C5774256,OMIM:620126 4 4 1.0000 condition_record_support_limited 20 0 1 Pseudohypoaldosteronism,_type_IB3,_autosomal_recessive 16 low_record_burden_interpretation_limited low_record_burden_gene SCNN1B scnn1b_related_disorder SCNN1B-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 SCNN1B-related_disorder 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN8A mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 4 4 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 4 4 1.0000 condition_record_support_limited 20 0 4 Primary_dilated_cardiomyopathy 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A medgen_c1858891 Paramyotonia congenita/hyperkalemic periodic paralysis MedGen:C1858891 4 4 1.0000 condition_record_support_limited 20 0 4 Paramyotonia_congenita/hyperkalemic_periodic_paralysis 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A unclassified_developmental_and_epileptic_encephalopathy unclassified developmental and epileptic encephalopathy . 4 4 1.0000 condition_record_support_limited 20 0 3 unclassified_developmental_and_epileptic_encephalopathy 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A scn2a_related_generalized_epilepsy_with_febrile_seizures_plus SCN2A-related generalized epilepsy with febrile seizures plus MedGen:CN120574 4 4 1.0000 condition_record_support_limited 20 0 3 SCN2A-related_generalized_epilepsy_with_febrile_seizures_plus 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1B cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 4 4 1.0000 condition_record_support_limited 20 0 4 Cardiovascular_phenotype 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN1A mondo_mondo_0018214_medgen_c3502809_omim_ps604233_orphanet_36387 Generalized epilepsy with febrile seizures plus MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233,Orphanet:36387 4 4 1.0000 condition_record_support_limited 20 0 4 Generalized_epilepsy_with_febrile_seizures_plus 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A mondo_mondo_0800329_medgen_c2751756 Febrile seizures, familial, 3a MONDO:MONDO:0800329,MedGen:C2751756 4 4 1.0000 condition_record_support_limited 20 0 4 Febrile_seizures,_familial,_3a 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN11A mondo_mondo_0014244_medgen_c3809882_omim_615548_orphanet_391397 Hereditary sensory and autonomic neuropathy type 7 MONDO:MONDO:0014244,MedGen:C3809882,OMIM:615548,Orphanet:391397 4 4 1.0000 condition_record_support_limited 20 0 3 Hereditary_sensory_and_autonomic_neuropathy_type_7 9 low_record_burden_interpretation_limited low_record_burden_gene SCAPER scaper_related_disorder SCAPER-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 SCAPER-related_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAF4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SBDS sbds_related_disorder SBDS-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 SBDS-related_disorder 48 compact_adjacent_exon_block_opportunity local_compact_architecture SASH3 mondo_mondo_0024781_medgen_c5676886_omim_301082_orphanet_653751 Immunodeficiency 102 MONDO:MONDO:0024781,MedGen:C5676886,OMIM:301082,Orphanet:653751 4 4 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_102 4 low_record_burden_interpretation_limited low_record_burden_gene SAMD9 mondo_mondo_0030801_medgen_c5436668_omim_619041 Monosomy 7 myelodysplasia and leukemia syndrome 2 MONDO:MONDO:0030801,MedGen:C5436668,OMIM:619041 4 4 1.0000 condition_record_support_limited 20 0 2 Monosomy_7_myelodysplasia_and_leukemia_syndrome_2 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SAMD9 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SAG human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 1.0000 condition_record_support_limited 20 0 4 Retinal_dystrophy 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SACS mondo_mondo_0017847_medgen_c5679900_orphanet_316240 Autosomal recessive spastic ataxia MONDO:MONDO:0017847,MedGen:C5679900,Orphanet:316240 4 4 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_spastic_ataxia 990 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RYR2 ryr2_related_disorder RYR2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 RYR2-related_disorder 254 large_gene_or_donor_burden_stress_case donor_burden_stress RYR2 mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 4 4 1.0000 condition_record_support_limited 20 0 4 Long_QT_syndrome 254 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 myopathy_ryr1_associated Myopathy, RYR1-associated . 4 4 1.0000 condition_record_support_limited 20 0 3 Myopathy,_RYR1-associated 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 4 4 1.0000 condition_record_support_limited 20 0 3 Myopathy 770 large_gene_or_donor_burden_stress_case donor_burden_stress RTTN human_phenotype_ontology_hp_0011451_medgen_c2677180 Primary microcephaly Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 4 4 1.0000 condition_record_support_limited 20 0 4 Primary_microcephaly 82 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RTN2 mondo_mondo_0971150_medgen_c5935630_omim_620854 Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity MONDO:MONDO:0971150,MedGen:C5935630,OMIM:620854 4 4 1.0000 condition_record_support_limited 20 0 1 Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_11,_with_spasticity 15 low_record_burden_interpretation_limited low_record_burden_gene RSRC1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene RSPH9 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 21 compact_adjacent_exon_block_opportunity local_compact_architecture RSPH9 mondo_mondo_0012979_medgen_c2675228_omim_612650_orphanet_244 Primary ciliary dyskinesia 12 MONDO:MONDO:0012979,MedGen:C2675228,OMIM:612650,Orphanet:244 4 4 1.0000 condition_record_support_limited 20 0 1 Primary_ciliary_dyskinesia_12 21 compact_adjacent_exon_block_opportunity local_compact_architecture RS1 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 4 4 1.0000 condition_record_support_limited 20 0 4 Retinal_disorder 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RS1 mondo_mondo_0010396_medgen_c4750718_omim_300672_orphanet_1934_orphanet_3451_orphanet_505652 Developmental and epileptic encephalopathy, 2 MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:1934,Orphanet:3451,Orphanet:505652 4 4 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_2 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RRAGD mondo_mondo_0859328_medgen_c5774266_omim_620152 Hypomagnesemia 7, renal, with or without dilated cardiomyopathy MONDO:MONDO:0859328,MedGen:C5774266,OMIM:620152 4 4 1.0000 condition_record_support_limited 20 0 1 Hypomagnesemia_7,_renal,_with_or_without_dilated_cardiomyopathy 8 low_record_burden_interpretation_limited low_record_burden_gene RRAGC mondo_mondo_0957960_medgen_c5882721_omim_620609 Long-Olsen-Distelmaier syndrome MONDO:MONDO:0957960,MedGen:C5882721,OMIM:620609 4 4 1.0000 condition_record_support_limited 20 0 1 Long-Olsen-Distelmaier_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene RPS26 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS20 condition_not_provided condition not provided MedGen:CN169374 4 4 1.0000 condition_record_support_limited 20 4 0 not_specified 7 low_record_burden_interpretation_limited low_record_burden_gene RPS19 rps19_related_disorder RPS19-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 RPS19-related_disorder 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL13 human_phenotype_ontology_hp_0002651_mondo_mondo_0100510_medgen_c0432211 Spondyloepimetaphyseal dysplasia Human_Phenotype_Ontology:HP:0002651,MONDO:MONDO:0100510,MedGen:C0432211 4 4 1.0000 condition_record_support_limited 20 0 3 Spondyloepimetaphyseal_dysplasia 10 low_record_burden_interpretation_limited low_record_burden_gene RPGRIP1L mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGR human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 4 4 1.0000 condition_record_support_limited 20 0 3 Retinal_disorder 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RP1 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 4 4 1.0000 condition_record_support_limited 20 0 3 Retinal_disorder 334 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RORA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNU12 mondo_mondo_0859360_medgen_c5774297_omim_620208 Spinocerebellar ataxia, autosomal recessive 33 MONDO:MONDO:0859360,MedGen:C5774297,OMIM:620208 4 4 1.0000 condition_record_support_limited 20 0 2 Spinocerebellar_ataxia,_autosomal_recessive_33 8 low_record_burden_interpretation_limited low_record_burden_gene RNU12 mondo_mondo_0011287_medgen_c1864186_omim_603116_orphanet_85199 Craniosynostosis-anal anomalies-porokeratosis syndrome MONDO:MONDO:0011287,MedGen:C1864186,OMIM:603116,Orphanet:85199 4 4 1.0000 condition_record_support_limited 20 0 2 Craniosynostosis-anal_anomalies-porokeratosis_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene RNF14 mondo_mondo_0017868_medgen_c4707858_omim_ps251280_orphanet_319192 Diencephalic-mesencephalic junction dysplasia MONDO:MONDO:0017868,MedGen:C4707858,OMIM:PS251280,Orphanet:319192 4 4 1.0000 condition_record_support_limited 20 0 4 Diencephalic-mesencephalic_junction_dysplasia 31 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RLIG1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 4 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIPK1 mondo_mondo_0030018_medgen_c5394286_omim_618852 Autoinflammation with episodic fever and lymphadenopathy MONDO:MONDO:0030018,MedGen:C5394286,OMIM:618852 4 4 1.0000 condition_record_support_limited 20 0 2 Autoinflammation_with_episodic_fever_and_lymphadenopathy 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RHOBTB2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 15 low_record_burden_interpretation_limited low_record_burden_gene RHO human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 4 4 1.0000 condition_record_support_limited 20 0 4 Retinal_disorder 198 compact_adjacent_exon_block_opportunity local_compact_architecture RHEB condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene RHCE medgen_c4693796_omim_617970 RH-NULL, AMORPH TYPE MedGen:C4693796,OMIM:617970 4 4 1.0000 condition_record_support_limited 20 0 0 RH-NULL,_AMORPH_TYPE 4 low_record_burden_interpretation_limited low_record_burden_gene RFX6 rfx6_related_disorder RFX6-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 RFX6-related_disorder 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RFT1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene RETREG1 mondo_mondo_0019941_medgen_c0020072_orphanet_970 Hereditary sensory and autonomic neuropathy type 2 MONDO:MONDO:0019941,MedGen:C0020072,Orphanet:970 4 4 1.0000 condition_record_support_limited 20 0 4 Hereditary_sensory_and_autonomic_neuropathy_type_2 25 compact_adjacent_exon_block_opportunity local_compact_architecture RETREG1 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 4 4 1.0000 condition_record_support_limited 20 0 4 Charcot-Marie-Tooth_disease 25 compact_adjacent_exon_block_opportunity local_compact_architecture REST rest_related_disorder REST-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 0 REST-related_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RELN human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Lissencephaly Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 4 4 1.0000 condition_record_support_limited 20 0 0 Lissencephaly 117 large_gene_or_donor_burden_stress_case donor_burden_stress REEP1 mondo_mondo_0013884_medgen_c3553656_omim_614751_orphanet_139536 Neuronopathy, distal hereditary motor, type 5B MONDO:MONDO:0013884,MedGen:C3553656,OMIM:614751,Orphanet:139536 4 4 1.0000 condition_record_support_limited 20 0 3 Neuronopathy,_distal_hereditary_motor,_type_5B 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RECQL4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 385 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RDH12 rdh12_related_disorder RDH12-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 RDH12-related_disorder 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RDH12 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 4 4 1.0000 condition_record_support_limited 20 0 4 Cone-rod_dystrophy 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RCC1 condition_not_provided condition not provided . 4 4 1.0000 condition_record_support_limited 20 4 1 See_cases 5 low_record_burden_interpretation_limited low_record_burden_gene RBBP8 mondo_mondo_0009622_medgen_c0796063_omim_251255_orphanet_313795 Jawad syndrome MONDO:MONDO:0009622,MedGen:C0796063,OMIM:251255,Orphanet:313795 4 4 1.0000 condition_record_support_limited 20 0 1 Jawad_syndrome 11 low_record_burden_interpretation_limited low_record_burden_gene RASA1 mondo_mondo_0024291_medgen_c0158570 Vascular malformation MONDO:MONDO:0024291,MedGen:C0158570 4 4 1.0000 condition_record_support_limited 20 0 3 Vascular_malformation 285 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RARB human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Microphthalmia Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 4 4 1.0000 condition_record_support_limited 20 0 0 Microphthalmia 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RANBP2 mondo_mondo_0011953_medgen_c2675556_omim_608033_orphanet_88619 Familial acute necrotizing encephalopathy MONDO:MONDO:0011953,MedGen:C2675556,OMIM:608033,Orphanet:88619 4 4 1.0000 condition_record_support_limited 20 0 1 Familial_acute_necrotizing_encephalopathy 96 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RANBP2 medgen_c3551587 Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant MedGen:C3551587 4 4 1.0000 condition_record_support_limited 20 0 3 Ectodermal_dysplasia_10a,_hypohidrotic/hair/tooth_type,_autosomal_dominant 96 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RAG2 medgen_c1867362 Severe combined immunodeficiency, B cell-negative MedGen:C1867362 4 4 1.0000 condition_record_support_limited 20 0 3 Severe_combined_immunodeficiency,_B_cell-negative 147 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAG2 atypical_severe_combined_immunodeficiency_due_to_complete_rag1_2_deficiency Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency . 4 4 1.0000 condition_record_support_limited 20 0 4 Atypical_severe_combined_immunodeficiency_due_to_complete_RAG1/2_deficiency 147 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAF1 raf1_related_disorder RAF1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 RAF1-related_disorder 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD51D mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 4 4 1.0000 condition_record_support_limited 20 0 3 Malignant_tumor_of_breast 245 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51D inherited_ovarian_cancer_without_breast_cancer Inherited ovarian cancer (without breast cancer) . 4 4 1.0000 condition_record_support_limited 20 0 4 Inherited_ovarian_cancer_(without_breast_cancer) 245 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD50 breast_and_or_ovarian_cancer Breast and/or ovarian cancer MedGen:CN221562 4 4 1.0000 condition_record_support_limited 20 0 4 Breast_and/or_ovarian_cancer 483 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD21 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAC2 mondo_mondo_0011988_medgen_c1842398_omim_608203_orphanet_183707 Neutrophil immunodeficiency syndrome MONDO:MONDO:0011988,MedGen:C1842398,OMIM:608203,Orphanet:183707 4 4 1.0000 condition_record_support_limited 20 0 2 Neutrophil_immunodeficiency_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene RAB9B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB7A mondo_mondo_0010949_medgen_c1833219_omim_600882_orphanet_99936 Charcot-Marie-Tooth disease type 2B MONDO:MONDO:0010949,MedGen:C1833219,OMIM:600882,Orphanet:99936 4 4 1.0000 condition_record_support_limited 20 0 3 Charcot-Marie-Tooth_disease_type_2B 4 low_record_burden_interpretation_limited low_record_burden_gene RAB3GAP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB39B condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene RAB34 mondo_mondo_0958230_medgen_c5935578_omim_620718 Orofaciodigital syndrome 20 MONDO:MONDO:0958230,MedGen:C5935578,OMIM:620718 4 4 1.0000 condition_record_support_limited 20 0 2 Orofaciodigital_syndrome_20 4 low_record_burden_interpretation_limited low_record_burden_gene RAB33A mondo_mondo_0010689_medgen_c0795910_omim_310490_orphanet_101078 Charcot-Marie-Tooth disease X-linked recessive 4 MONDO:MONDO:0010689,MedGen:C0795910,OMIM:310490,Orphanet:101078 4 4 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease_X-linked_recessive_4 47 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RAB33A mondo_mondo_0021944_medgen_c1852271_omim_ps609129 Auditory neuropathy MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 4 4 1.0000 condition_record_support_limited 20 0 0 Auditory_neuropathy 47 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RAB11B mondo_mondo_0060624_medgen_c4540498_omim_617807 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter MONDO:MONDO:0060624,MedGen:C4540498,OMIM:617807 4 4 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_ataxic_gait,_absent_speech,_and_decreased_cortical_white_matter 6 low_record_burden_interpretation_limited low_record_burden_gene QRICH1 mondo_mondo_0060707_medgen_cn379926_omim_617982_orphanet_580940 Ververi-Brady syndrome 1 MONDO:MONDO:0060707,MedGen:CN379926,OMIM:617982,Orphanet:580940 4 4 1.0000 condition_record_support_limited 20 0 1 Ververi-Brady_syndrome_1 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYCR1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUM1 mondo_mondo_0958231_medgen_cn376901_orphanet_589515 PUM1-associated developmental disability-ataxia-seizure syndrome MONDO:MONDO:0958231,MedGen:CN376901,Orphanet:589515 4 4 1.0000 condition_record_support_limited 20 0 2 PUM1-associated_developmental_disability-ataxia-seizure_syndrome 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUM1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTRHD1 mondo_mondo_0958323_medgen_c5935590_omim_620747 Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities MONDO:MONDO:0958323,MedGen:C5935590,OMIM:620747 4 4 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_early-onset_parkinsonism_and_behavioral_abnormalities 4 low_record_burden_interpretation_limited low_record_burden_gene PTPRQ ptprq_related_disorder PTPRQ-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 PTPRQ-related_disorder 60 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PTPRQ mondo_mondo_0033260_medgen_c4540024_omim_617663 Hearing loss, autosomal dominant 73 MONDO:MONDO:0033260,MedGen:C4540024,OMIM:617663 4 4 1.0000 condition_record_support_limited 20 0 3 Hearing_loss,_autosomal_dominant_73 60 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PTPN4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 12 low_record_burden_interpretation_limited low_record_burden_gene PTH mondo_mondo_0007796_medgen_c5241444_omim_146200 Hypoparathyroidism, familial isolated 1 MONDO:MONDO:0007796,MedGen:C5241444,OMIM:146200 4 4 1.0000 condition_record_support_limited 20 0 0 Hypoparathyroidism,_familial_isolated_1 8 low_record_burden_interpretation_limited low_record_burden_gene PTF1A mondo_mondo_0012192_medgen_c1836780_omim_609069_orphanet_65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069,Orphanet:65288 4 4 1.0000 condition_record_support_limited 20 0 1 Permanent_neonatal_diabetes_mellitus-pancreatic_and_cerebellar_agenesis_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene PTCHD1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSPH mondo_mondo_0013531_medgen_c1291463_omim_614023_orphanet_79350 Deficiency of phosphoserine phosphatase MONDO:MONDO:0013531,MedGen:C1291463,OMIM:614023,Orphanet:79350 4 4 1.0000 condition_record_support_limited 20 0 0 Deficiency_of_phosphoserine_phosphatase 5 low_record_burden_interpretation_limited low_record_burden_gene PSMC3IP mondo_mondo_0013689_medgen_c3280471_omim_614324_orphanet_243 Ovarian dysgenesis 3 MONDO:MONDO:0013689,MedGen:C3280471,OMIM:614324,Orphanet:243 4 4 1.0000 condition_record_support_limited 20 0 1 Ovarian_dysgenesis_3 5 low_record_burden_interpretation_limited low_record_burden_gene PSEN1 psen1_related_disorder PSEN1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 PSEN1-related_disorder 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSEN1 human_phenotype_ontology_hp_0000726_human_phenotype_ontology_hp_0002274_human_phenotype_ontology_hp_0007122_human_phenotype_ontology_hp_0007150_human_phenotype_ontology_hp_0007283_mondo_mondo_0001627_medgen_c0497327 Dementia Human_Phenotype_Ontology:HP:0000726,Human_Phenotype_Ontology:HP:0002274,Human_Phenotype_Ontology:HP:0007122,Human_Phenotype_Ontology:HP:0007150,Human_Phenotype_Ontology:HP:0007283,MONDO:MONDO:0001627,MedGen:C0497327 4 4 1.0000 condition_record_support_limited 20 0 4 Dementia 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRX prx_related_disorder PRX-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 PRX-related_disorder 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRX autosomal_recessive_dejerine_sottas_syndrome Autosomal recessive Dejerine-Sottas syndrome MedGen:CN069172 4 4 1.0000 condition_record_support_limited 20 0 4 Autosomal_recessive_Dejerine-Sottas_syndrome 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRUNE1 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 4 4 1.0000 condition_record_support_limited 20 0 4 Abnormal_brain_morphology 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRSS23 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRR12 complex_microphthalmia complex microphthalmia . 4 4 1.0000 condition_record_support_limited 20 0 2 complex_microphthalmia 74 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PRPF31 prpf31_related_disorder PRPF31-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 PRPF31-related_disorder 261 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPF3 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 12 low_record_burden_interpretation_limited low_record_burden_gene PROP1 pituitary_hormone_deficiency Pituitary hormone deficiency . 4 4 1.0000 condition_record_support_limited 20 0 3 Pituitary_hormone_deficiency 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROC human_phenotype_ontology_hp_0001907_medgen_c0040038 Thromboembolism Human_Phenotype_Ontology:HP:0001907,MedGen:C0040038 4 4 1.0000 condition_record_support_limited 20 0 3 Thromboembolism 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROC mondo_mondo_0019145_medgen_c0598221_orphanet_745 Hereditary thrombophilia due to congenital protein C deficiency MONDO:MONDO:0019145,MedGen:C0598221,Orphanet:745 4 4 1.0000 condition_record_support_limited 20 0 3 Hereditary_thrombophilia_due_to_congenital_protein_C_deficiency 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROC human_phenotype_ontology_hp_0002625_mesh_d020246_medgen_c0149871 Deep venous thrombosis Human_Phenotype_Ontology:HP:0002625,MeSH:D020246,MedGen:C0149871 4 4 1.0000 condition_record_support_limited 20 0 4 Deep_venous_thrombosis 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRNP medgen_c3805618 CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED MedGen:C3805618 4 4 1.0000 condition_record_support_limited 20 0 2 CEREBRAL_AMYLOID_ANGIOPATHY,_PRNP-RELATED 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRMT7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKN mondo_mondo_0017279_medgen_c4275179_orphanet_2828 Young-onset Parkinson disease MONDO:MONDO:0017279,MedGen:C4275179,Orphanet:2828 4 4 1.0000 condition_record_support_limited 20 0 4 Young-onset_Parkinson_disease 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAR1B mondo_mondo_0859214_medgen_c5562050_omim_619680_orphanet_692173 Marbach-Schaaf neurodevelopmental syndrome MONDO:MONDO:0859214,MedGen:C5562050,OMIM:619680,Orphanet:692173 4 4 1.0000 condition_record_support_limited 20 0 2 Marbach-Schaaf_neurodevelopmental_syndrome 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAR1A mondo_mondo_0012509_medgen_c1864846_omim_610489_orphanet_189439 Pigmented nodular adrenocortical disease, primary, 1 MONDO:MONDO:0012509,MedGen:C1864846,OMIM:610489,Orphanet:189439 4 4 1.0000 condition_record_support_limited 20 0 4 Pigmented_nodular_adrenocortical_disease,_primary,_1 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAR1A prkar1a_related_disorder PRKAR1A-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 PRKAR1A-related_disorder 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAR1A mondo_mondo_0015285_medgen_c0406810_orphanet_1359 Carney complex MONDO:MONDO:0015285,MedGen:C0406810,Orphanet:1359 4 4 1.0000 condition_record_support_limited 20 0 4 Carney_complex 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRICKLE2 condition_not_provided condition not provided . 4 4 1.0000 condition_record_support_limited 20 4 0 See_cases 5 low_record_burden_interpretation_limited low_record_burden_gene PRDM5 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 4 4 1.0000 condition_record_support_limited 20 0 2 Cardiovascular_phenotype 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP2R5D mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP2R5C condition_not_provided condition not provided .|MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 See_cases|not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene PPP2R1A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP1R12A ppp1r12a_related_disorder PPP1R12A-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 PPP1R12A-related_disorder 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP1CB cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 4 4 1.0000 condition_record_support_limited 20 0 3 Cardiovascular_phenotype 14 low_record_burden_interpretation_limited low_record_burden_gene PPFIA3 medgen_c6012758_omim_621122 PAUL-CHAO NEURODEVELOPMENTAL SYNDROME MedGen:C6012758,OMIM:621122 4 4 1.0000 condition_record_support_limited 20 0 4 PAUL-CHAO_NEURODEVELOPMENTAL_SYNDROME 19 low_record_burden_interpretation_limited low_record_burden_gene PPCS mondo_mondo_0032592_medgen_c4748647_omim_618189 Cardiomyopathy, dilated, 2c MONDO:MONDO:0032592,MedGen:C4748647,OMIM:618189 4 4 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy,_dilated,_2c 4 low_record_burden_interpretation_limited low_record_burden_gene PPARG human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Type 2 diabetes mellitus Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 4 4 1.0000 condition_record_support_limited 20 0 1 Type_2_diabetes_mellitus 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PORCN porcn_related_disorder PORCN-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 0 PORCN-related_disorder 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PORCN mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POR por_related_disorder POR-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 POR-related_disorder 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POPDC1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene POMT2 pomt2_related_disorder POMT2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 POMT2-related_disorder 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMK condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMGNT2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3A autosomal_recessive_polr3a_related_disorders Autosomal recessive POLR3A-related disorders . 4 4 1.0000 condition_record_support_limited 20 0 4 Autosomal_recessive_POLR3A-related_disorders 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR2F mondo_mondo_0008671_medgen_c1860339_omim_193510_orphanet_3440 Waardenburg syndrome type 2A MONDO:MONDO:0008671,MedGen:C1860339,OMIM:193510,Orphanet:3440 4 4 1.0000 condition_record_support_limited 20 0 1 Waardenburg_syndrome_type_2A 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR2F monogenic_hearing_loss Monogenic hearing loss . 4 4 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR2F mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR1B mondo_mondo_0030067_medgen_c5394546_omim_618939 Treacher Collins syndrome 4 MONDO:MONDO:0030067,MedGen:C5394546,OMIM:618939 4 4 1.0000 condition_record_support_limited 20 0 3 Treacher_Collins_syndrome_4 5 low_record_burden_interpretation_limited low_record_burden_gene POLH mondo_mondo_0019600_medgen_c0043346_orphanet_910 Xeroderma pigmentosum MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910 4 4 1.0000 condition_record_support_limited 20 0 3 Xeroderma_pigmentosum 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 4 4 1.0000 condition_record_support_limited 20 0 4 Tip-toe_gait 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 4 4 1.0000 condition_record_support_limited 20 0 4 Hereditary_spastic_paraplegia 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLD1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 4 4 1.0000 condition_record_support_limited 20 0 3 Hereditary_cancer-predisposing_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene POLD1 mondo_mondo_0012953_medgen_c2675481_omim_612591_orphanet_220460 Colorectal cancer, susceptibility to, 10 MONDO:MONDO:0012953,MedGen:C2675481,OMIM:612591,Orphanet:220460 4 4 1.0000 condition_record_support_limited 20 0 3 Colorectal_cancer,_susceptibility_to,_10 8 low_record_burden_interpretation_limited low_record_burden_gene POGZ mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 4 4 1.0000 condition_record_support_limited 20 0 3 Neurodevelopmental_disorder 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGLUT1 mondo_mondo_0014307_medgen_c3810313_omim_615696_orphanet_79145 Dowling-Degos disease 4 MONDO:MONDO:0014307,MedGen:C3810313,OMIM:615696,Orphanet:79145 4 4 1.0000 condition_record_support_limited 20 0 2 Dowling-Degos_disease_4 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA6 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMVK mondo_mondo_0008290_medgen_cn297066_omim_175800 Porokeratosis 1, Mibelli type MONDO:MONDO:0008290,MedGen:CN297066,OMIM:175800 4 4 1.0000 condition_record_support_limited 20 0 1 Porokeratosis_1,_Mibelli_type 6 low_record_burden_interpretation_limited low_record_burden_gene PMPCA condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene PMP22 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMP22 medgen_c4016264 DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT MedGen:C4016264 4 4 1.0000 condition_record_support_limited 20 0 3 DEJERINE-SOTTAS_SYNDROME,_AUTOSOMAL_DOMINANT 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMM2 mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 4 4 1.0000 condition_record_support_limited 20 0 4 Congenital_cerebellar_hypoplasia 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLXNA1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene PLVAP mondo_mondo_0032586_medgen_c4748579_omim_618183 Diarrhea 10, protein-losing enteropathy type MONDO:MONDO:0032586,MedGen:C4748579,OMIM:618183 4 4 1.0000 condition_record_support_limited 20 0 2 Diarrhea_10,_protein-losing_enteropathy_type 8 low_record_burden_interpretation_limited low_record_burden_gene PLP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLCD1 mondo_mondo_0007900_medgen_c0544855_omim_151600 Nonsyndromic congenital nail disorder 3 MONDO:MONDO:0007900,MedGen:C0544855,OMIM:151600 4 4 1.0000 condition_record_support_limited 20 0 1 Nonsyndromic_congenital_nail_disorder_3 8 low_record_burden_interpretation_limited low_record_burden_gene PKHD1 human_phenotype_ontology_hp_0004719_medgen_c3275899 Hyperechogenic kidneys Human_Phenotype_Ontology:HP:0004719,MedGen:C3275899 4 4 1.0000 condition_record_support_limited 20 0 4 Hyperechogenic_kidneys 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PKHD1 human_phenotype_ontology_hp_0000105_medgen_c0542518 Enlarged kidney Human_Phenotype_Ontology:HP:0000105,MedGen:C0542518 4 4 1.0000 condition_record_support_limited 20 0 4 Enlarged_kidney 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PKHD1 human_phenotype_ontology_hp_0001080_mondo_mondo_0004868_medgen_c0549613 Biliary tract abnormality Human_Phenotype_Ontology:HP:0001080,MONDO:MONDO:0004868,MedGen:C0549613 4 4 1.0000 condition_record_support_limited 20 0 4 Biliary_tract_abnormality 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PKHD1 human_phenotype_ontology_hp_0025700_medgen_c0730379 Anhydramnios Human_Phenotype_Ontology:HP:0025700,MedGen:C0730379 4 4 1.0000 condition_record_support_limited 20 0 4 Anhydramnios 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PKD1 human_phenotype_ontology_hp_0000822_human_phenotype_ontology_hp_0004949_human_phenotype_ontology_hp_0005126_mondo_mondo_0005044_medgen_c0020538 Hypertensive disorder Human_Phenotype_Ontology:HP:0000822,Human_Phenotype_Ontology:HP:0004949,Human_Phenotype_Ontology:HP:0005126,MONDO:MONDO:0005044,MedGen:C0020538 4 4 1.0000 condition_record_support_limited 20 0 4 Hypertensive_disorder 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PJVK mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 4 4 1.0000 condition_record_support_limited 20 0 4 Hearing_loss,_autosomal_recessive 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PJVK medgen_c0011053 Deafness MedGen:C0011053 4 4 1.0000 condition_record_support_limited 20 0 3 Deafness 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PITX3 mondo_mondo_0012527_medgen_c1864567_omim_610623_orphanet_91492 Cataract 11 multiple types MONDO:MONDO:0012527,MedGen:C1864567,OMIM:610623,Orphanet:91492 4 4 1.0000 condition_record_support_limited 20 0 3 Cataract_11_multiple_types 9 low_record_burden_interpretation_limited low_record_burden_gene PITX1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene PISD mondo_mondo_0030045_medgen_c5394404_omim_618889_orphanet_589442 Liberfarb syndrome MONDO:MONDO:0030045,MedGen:C5394404,OMIM:618889,Orphanet:589442 4 4 1.0000 condition_record_support_limited 20 0 1 Liberfarb_syndrome 11 low_record_burden_interpretation_limited low_record_burden_gene PINK1 pink1_related_disorder PINK1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 PINK1-related_disorder 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3R1 pik3r1_related_disorder PIK3R1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 PIK3R1-related_disorder 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CD condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA segmental_undergrowth_associated_with_mainly_venous_malformation_with_capillary_component Segmental undergrowth associated with mainly venous malformation with capillary component . 4 4 1.0000 condition_record_support_limited 20 0 4 Segmental_undergrowth_associated_with_mainly_venous_malformation_with_capillary_component 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA medgen_c0265950_orphanet_211252 Rare venous malformation MedGen:C0265950,Orphanet:211252 4 4 1.0000 condition_record_support_limited 20 0 4 Rare_venous_malformation 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 4 4 1.0000 condition_record_support_limited 20 0 4 Familial_cancer_of_breast 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0004099_mondo_mondo_0007962_medgen_c0265552_omim_155500 Congenital macrodactylia Human_Phenotype_Ontology:HP:0004099,MONDO:MONDO:0007962,MedGen:C0265552,OMIM:155500 4 4 1.0000 condition_record_support_limited 20 0 4 Congenital_macrodactylia 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0004988_medgen_c0858252 Breast adenocarcinoma MONDO:MONDO:0004988,MedGen:C0858252 4 4 1.0000 condition_record_support_limited 20 0 4 Breast_adenocarcinoma 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGQ condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 4 not_provided 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGQ mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGG mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PI4KB mondo_mondo_0859525_medgen_c5830342_omim_620281 Hearing loss, autosomal dominant 87 MONDO:MONDO:0859525,MedGen:C5830342,OMIM:620281 4 4 1.0000 condition_record_support_limited 20 0 0 Hearing_loss,_autosomal_dominant_87 4 low_record_burden_interpretation_limited low_record_burden_gene PI4KA mondo_mondo_0030669_medgen_c5676901_omim_619708 Gastrointestinal defects and immunodeficiency syndrome 2 MONDO:MONDO:0030669,MedGen:C5676901,OMIM:619708 4 4 1.0000 condition_record_support_limited 20 0 2 Gastrointestinal_defects_and_immunodeficiency_syndrome_2 42 large_gene_or_donor_burden_stress_case donor_burden_stress PHKG2 mondo_mondo_0700291_medgen_c0268147_orphanet_370 Glycogen phosphorylase kinase deficiency MONDO:MONDO:0700291,MedGen:C0268147,Orphanet:370 4 4 1.0000 condition_record_support_limited 20 0 4 Glycogen_phosphorylase_kinase_deficiency 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHIP medgen_c4013980 Early onset severe obesity MedGen:C4013980 4 4 1.0000 condition_record_support_limited 20 0 2 Early_onset_severe_obesity 177 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PGBD5 mondo_mondo_0980968_medgen_cn380858_omim_621482 Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity MONDO:MONDO:0980968,MedGen:CN380858,OMIM:621482 4 4 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_seizures,_hypotonia,_and_variable_spasticity 4 low_record_burden_interpretation_limited low_record_burden_gene PGAP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PFN1 mondo_mondo_0013891_medgen_c3553719_omim_614808_orphanet_803 Amyotrophic lateral sclerosis type 18 MONDO:MONDO:0013891,MedGen:C3553719,OMIM:614808,Orphanet:803 4 4 1.0000 condition_record_support_limited 20 0 4 Amyotrophic_lateral_sclerosis_type_18 5 low_record_burden_interpretation_limited low_record_burden_gene PEX3 mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 Peroxisome biogenesis disorder MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 4 4 1.0000 condition_record_support_limited 20 0 1 Peroxisome_biogenesis_disorder 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX16 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX16 mondo_mondo_0013942_medgen_c3553959_omim_614876_orphanet_912 Peroxisome biogenesis disorder 8A (Zellweger) MONDO:MONDO:0013942,MedGen:C3553959,OMIM:614876,Orphanet:912 4 4 1.0000 condition_record_support_limited 20 0 3 Peroxisome_biogenesis_disorder_8A_(Zellweger) 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX13 mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 Peroxisome biogenesis disorder MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 4 4 1.0000 condition_record_support_limited 20 0 4 Peroxisome_biogenesis_disorder 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX13 pex13_related_disorder PEX13-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 PEX13-related_disorder 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX12 medgen_c3551381 Peroxisomal biogenesis disorder 3b MedGen:C3551381 4 4 1.0000 condition_record_support_limited 20 0 2 Peroxisomal_biogenesis_disorder_3b 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX1 mondo_mondo_0100259_medgen_cn305475 Peroxisome biogenesis disorder due to PEX1 defect MONDO:MONDO:0100259,MedGen:CN305475 4 4 1.0000 condition_record_support_limited 20 0 4 Peroxisome_biogenesis_disorder_due_to_PEX1_defect 469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PERP mondo_mondo_0030961_medgen_c5543096_omim_619208 Olmsted syndrome 2 MONDO:MONDO:0030961,MedGen:C5543096,OMIM:619208 4 4 1.0000 condition_record_support_limited 20 0 0 Olmsted_syndrome_2 6 low_record_burden_interpretation_limited low_record_burden_gene PDZD9 mondo_mondo_0014066_medgen_c3554608_omim_615160 Mitochondrial complex III deficiency nuclear type 5 MONDO:MONDO:0014066,MedGen:C3554608,OMIM:615160 4 4 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_III_deficiency_nuclear_type_5 7 low_record_burden_interpretation_limited low_record_burden_gene PDZD7 pdzd7_related_disorder PDZD7-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 PDZD7-related_disorder 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDSS2 mondo_mondo_0013838_medgen_c3553358_omim_614652_orphanet_255249 Coenzyme Q10 deficiency, primary, 3 MONDO:MONDO:0013838,MedGen:C3553358,OMIM:614652,Orphanet:255249 4 4 1.0000 condition_record_support_limited 20 0 0 Coenzyme_Q10_deficiency,_primary,_3 6 low_record_burden_interpretation_limited low_record_burden_gene PDP1 mondo_mondo_0012120_medgen_c1837429_omim_608782_orphanet_79246 Pyruvate dehydrogenase phosphatase deficiency MONDO:MONDO:0012120,MedGen:C1837429,OMIM:608782,Orphanet:79246 4 4 1.0000 condition_record_support_limited 20 0 0 Pyruvate_dehydrogenase_phosphatase_deficiency 6 low_record_burden_interpretation_limited low_record_burden_gene PDE8B mondo_mondo_0012205_medgen_c4310808_omim_609161_orphanet_228169 Autosomal dominant striatal neurodegeneration type 1 MONDO:MONDO:0012205,MedGen:C4310808,OMIM:609161,Orphanet:228169 4 4 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_striatal_neurodegeneration_type_1 11 low_record_burden_interpretation_limited low_record_burden_gene PDE1C mondo_mondo_0029137_medgen_c4748334_omim_618140 Hearing loss, autosomal dominant 74 MONDO:MONDO:0029137,MedGen:C4748334,OMIM:618140 4 4 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_dominant_74 4 low_record_burden_interpretation_limited low_record_burden_gene PDE10A condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene PCSK9 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 4 4 1.0000 condition_record_support_limited 20 0 4 Cardiovascular_phenotype 18 low_record_burden_interpretation_limited low_record_burden_gene PCLO mondo_mondo_0011948_medgen_c1842687_omim_608027_orphanet_97249 Pontocerebellar hypoplasia type 3 MONDO:MONDO:0011948,MedGen:C1842687,OMIM:608027,Orphanet:97249 4 4 1.0000 condition_record_support_limited 20 0 0 Pontocerebellar_hypoplasia_type_3 73 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PCDH12 mondo_mondo_0017868_medgen_c4707858_omim_ps251280_orphanet_319192 Diencephalic-mesencephalic junction dysplasia MONDO:MONDO:0017868,MedGen:C4707858,OMIM:PS251280,Orphanet:319192 4 4 1.0000 condition_record_support_limited 20 0 4 Diencephalic-mesencephalic_junction_dysplasia 31 compact_adjacent_exon_block_opportunity local_compact_architecture PCBD1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 4 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene PAX9 pax9_related_disorder PAX9-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 PAX9-related_disorder 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX8 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 mondo_mondo_0008136_medgen_c1833797_omim_165550_orphanet_637061 Isolated optic nerve hypoplasia MONDO:MONDO:0008136,MedGen:C1833797,OMIM:165550,Orphanet:637061 4 4 1.0000 condition_record_support_limited 20 0 4 Isolated_optic_nerve_hypoplasia 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 human_phenotype_ontology_hp_0000526_mondo_mondo_0019172_medgen_c0003076 Congenital aniridia Human_Phenotype_Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076 4 4 1.0000 condition_record_support_limited 20 0 0 Congenital_aniridia 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 human_phenotype_ontology_hp_0000588_human_phenotype_ontology_hp_0007997_mondo_mondo_0007354_medgen_c0155299_omim_120430_orphanet_35737_orphanet_98947 Coloboma of optic nerve Human_Phenotype_Ontology:HP:0000588,Human_Phenotype_Ontology:HP:0007997,MONDO:MONDO:0007354,MedGen:C0155299,OMIM:120430,Orphanet:35737,Orphanet:98947 4 4 1.0000 condition_record_support_limited 20 0 3 Coloboma_of_optic_nerve 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 mondo_mondo_0007848_medgen_c1835698_omim_148190_orphanet_2334 Autosomal dominant keratitis MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190,Orphanet:2334 4 4 1.0000 condition_record_support_limited 20 0 3 Autosomal_dominant_keratitis 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX2 gene_100034704_mondo_mondo_0012561_medgen_c1835826_omim_610805 Congenital anomalies of kidney and urinary tract 1 Gene:100034704,MONDO:MONDO:0012561,MedGen:C1835826,OMIM:610805 4 4 1.0000 condition_record_support_limited 20 0 1 Congenital_anomalies_of_kidney_and_urinary_tract_1 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PARS2 mondo_mondo_0032752_medgen_c5193099_omim_618437 Developmental and epileptic encephalopathy, 75 MONDO:MONDO:0032752,MedGen:C5193099,OMIM:618437 4 4 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_75 7 low_record_burden_interpretation_limited low_record_burden_gene PARN familial_interstitial_pneumonia Familial Interstitial Pneumonia . 4 4 1.0000 condition_record_support_limited 20 0 4 Familial_Interstitial_Pneumonia 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PARK7 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene PANX1 mondo_mondo_0032810_medgen_c5231407_omim_618550 Oocyte maturation defect 7 MONDO:MONDO:0032810,MedGen:C5231407,OMIM:618550 4 4 1.0000 condition_record_support_limited 20 0 0 Oocyte_maturation_defect_7 4 low_record_burden_interpretation_limited low_record_burden_gene PANK2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PADI3 mondo_mondo_0020736_medgen_c4551573_omim_191480_orphanet_1410 Uncombable hair syndrome 1 MONDO:MONDO:0020736,MedGen:C4551573,OMIM:191480,Orphanet:1410 4 4 1.0000 condition_record_support_limited 20 0 2 Uncombable_hair_syndrome_1 8 low_record_burden_interpretation_limited low_record_burden_gene PADI3 mondo_mondo_0022113_medgen_c1274708_omim_618352 Central centrifugal cicatricial alopecia MONDO:MONDO:0022113,MedGen:C1274708,OMIM:618352 4 4 1.0000 condition_record_support_limited 20 0 1 Central_centrifugal_cicatricial_alopecia 8 low_record_burden_interpretation_limited low_record_burden_gene PABPN1 mondo_mondo_0008116_medgen_c0270952_omim_ps164300_orphanet_270 Oculopharyngeal muscular dystrophy MONDO:MONDO:0008116,MedGen:C0270952,OMIM:PS164300,Orphanet:270 4 4 1.0000 condition_record_support_limited 20 0 4 Oculopharyngeal_muscular_dystrophy 12 low_record_burden_interpretation_limited low_record_burden_gene P4HA2 mondo_mondo_0014982_medgen_c4310655_omim_617238 Myopia 25, autosomal dominant MONDO:MONDO:0014982,MedGen:C4310655,OMIM:617238 4 4 1.0000 condition_record_support_limited 20 0 2 Myopia_25,_autosomal_dominant 4 low_record_burden_interpretation_limited low_record_burden_gene P2RX2 mondo_mondo_0011994_medgen_c1842371_omim_608224_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 41 MONDO:MONDO:0011994,MedGen:C1842371,OMIM:608224,Orphanet:90635 4 4 1.0000 condition_record_support_limited 20 0 2 Autosomal_dominant_nonsyndromic_hearing_loss_41 5 low_record_burden_interpretation_limited low_record_burden_gene OXGR1 mondo_mondo_0958191_medgen_c5830516_omim_620374 Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis MONDO:MONDO:0958191,MedGen:C5830516,OMIM:620374 4 4 1.0000 condition_record_support_limited 20 0 0 Nephrolithiasis,_calcium_oxalate,_2,_with_or_without_nephrocalcinosis 4 low_record_burden_interpretation_limited low_record_burden_gene OVOL2 gene_8197_mondo_mondo_0007378_medgen_c1852555_omim_122000_orphanet_98973 Posterior polymorphous corneal dystrophy 1 Gene:8197,MONDO:MONDO:0007378,MedGen:C1852555,OMIM:122000,Orphanet:98973 4 4 1.0000 condition_record_support_limited 20 0 0 Posterior_polymorphous_corneal_dystrophy_1 4 low_record_burden_interpretation_limited low_record_burden_gene OTULIN mondo_mondo_0007397_medgen_c1852502_omim_123000_orphanet_1522 Craniometaphyseal dysplasia, autosomal dominant MONDO:MONDO:0007397,MedGen:C1852502,OMIM:123000,Orphanet:1522 4 4 1.0000 condition_record_support_limited 20 0 2 Craniometaphyseal_dysplasia,_autosomal_dominant 17 low_record_burden_interpretation_limited low_record_burden_gene OTUD6B human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTUD6B mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 4 4 1.0000 condition_record_support_limited 20 0 4 Epilepsy 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTUD6B medgen_c0432072 Dysmorphic features MedGen:C0432072 4 4 1.0000 condition_record_support_limited 20 0 4 Dysmorphic_features 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTOF mondo_mondo_0011131_medgen_c1866427_omim_601701_orphanet_3354 Tricho-oculo-dermo-vertebral syndrome MONDO:MONDO:0011131,MedGen:C1866427,OMIM:601701,Orphanet:3354 4 4 1.0000 condition_record_support_limited 20 0 2 Tricho-oculo-dermo-vertebral_syndrome 355 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture OTOF human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 4 4 1.0000 condition_record_support_limited 20 0 2 Hearing_impairment 355 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture OSGEP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OR10Z1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene OPN1MW human_phenotype_ontology_hp_0011520_medgen_c3887938_omim_303800 Deuteranomaly Human_Phenotype_Ontology:HP:0011520,MedGen:C3887938,OMIM:303800 4 4 1.0000 condition_record_support_limited 20 0 1 Deuteranomaly 6 low_record_burden_interpretation_limited low_record_burden_gene OPLAH oplah_related_disorder OPLAH-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 0 OPLAH-related_disorder 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OFD1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OBSL1 obsl1_related_disorder OBSL1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 OBSL1-related_disorder 73 compact_adjacent_exon_block_opportunity local_compact_architecture NUP85 mondo_mondo_0032580_medgen_c4748545_omim_618176 Nephrotic syndrome, type 17 MONDO:MONDO:0032580,MedGen:C4748545,OMIM:618176 4 4 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome,_type_17 4 low_record_burden_interpretation_limited low_record_burden_gene NUP37 mondo_mondo_0032583_medgen_c4748555_omim_618179 Microcephaly 24, primary, autosomal recessive MONDO:MONDO:0032583,MedGen:C4748555,OMIM:618179 4 4 1.0000 condition_record_support_limited 20 0 0 Microcephaly_24,_primary,_autosomal_recessive 4 low_record_burden_interpretation_limited low_record_burden_gene NUP214 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene NUP214 mondo_mondo_0032742_medgen_c5193089_omim_618426 Encephalopathy, acute, infection-induced, susceptibility to, 9 MONDO:MONDO:0032742,MedGen:C5193089,OMIM:618426 4 4 1.0000 condition_record_support_limited 20 0 3 Encephalopathy,_acute,_infection-induced,_susceptibility_to,_9 10 low_record_burden_interpretation_limited low_record_burden_gene NUP160 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene NUP107 nup107_related_disorder NUP107-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 NUP107-related_disorder 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NTRK2 mondo_mondo_0033367_medgen_c4693367_omim_617830 Developmental and epileptic encephalopathy, 58 MONDO:MONDO:0033367,MedGen:C4693367,OMIM:617830 4 4 1.0000 condition_record_support_limited 20 0 3 Developmental_and_epileptic_encephalopathy,_58 14 low_record_burden_interpretation_limited low_record_burden_gene NSRP1 mondo_mondo_0859275_medgen_c5774197_omim_620001 Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities MONDO:MONDO:0859275,MedGen:C5774197,OMIM:620001 4 4 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_spasticity,_seizures,_and_brain_abnormalities 5 low_record_burden_interpretation_limited low_record_burden_gene NSD2 wolf_hirschhorn_like_syndrome Wolf-Hirschhorn like syndrome . 4 4 1.0000 condition_record_support_limited 20 0 3 Wolf-Hirschhorn_like_syndrome 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NSD1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 4 4 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NRAS mondo_mondo_0020297_medgen_c5681679_orphanet_98733 Noonan syndrome and Noonan-related syndrome MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 4 4 1.0000 condition_record_support_limited 20 0 4 Noonan_syndrome_and_Noonan-related_syndrome 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAS nras_related_disorder NRAS-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 NRAS-related_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAS mondo_mondo_0013767_medgen_c2674723_omim_614470_orphanet_268114 Autoimmune lymphoproliferative syndrome type 4 MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114 4 4 1.0000 condition_record_support_limited 20 0 4 Autoimmune_lymphoproliferative_syndrome_type_4 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAP condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene NR5A1 mondo_mondo_0013504_medgen_c3151406_omim_613957 Spermatogenic failure 8 MONDO:MONDO:0013504,MedGen:C3151406,OMIM:613957 4 4 1.0000 condition_record_support_limited 20 0 2 Spermatogenic_failure_8 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR5A1 mondo_mondo_0060489_medgen_c4479552_omim_617480 46,XX sex reversal 4 MONDO:MONDO:0060489,MedGen:C4479552,OMIM:617480 4 4 1.0000 condition_record_support_limited 20 0 3 46,XX_sex_reversal_4 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR3C2 nr3c2_related_disorder NR3C2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 NR3C2-related_disorder 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR2F2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 35 compact_adjacent_exon_block_opportunity local_compact_architecture NPRL3 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 4 4 1.0000 condition_record_support_limited 20 0 1 Seizure 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP1 mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 4 4 1.0000 condition_record_support_limited 20 0 4 Joubert_syndrome_and_related_disorders 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPC1 mondo_mondo_0001982_medgen_c0028064 Sphingomyelin/cholesterol lipidosis MONDO:MONDO:0001982,MedGen:C0028064 4 4 1.0000 condition_record_support_limited 20 0 4 Sphingomyelin/cholesterol_lipidosis 634 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPC1 medgen_c4017106 Niemann-Pick disease, type C1, juvenile form MedGen:C4017106 4 4 1.0000 condition_record_support_limited 20 0 4 Niemann-Pick_disease,_type_C1,_juvenile_form 634 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NOTCH3 mondo_mondo_0979867_medgen_cn379785_omim_621295 Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 MONDO:MONDO:0979867,MedGen:CN379785,OMIM:621295 4 4 1.0000 condition_record_support_limited 20 0 1 Cerebral_arteriopathy,_autosomal_recessive,_with_subcortical_infarcts_and_leukoencephalopathy_1 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH2 notch2_related_disorder NOTCH2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 NOTCH2-related_disorder 98 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH1 human_phenotype_ontology_hp_0004383_mondo_mondo_0004933_medgen_c0152101_omim_ps241550_orphanet_2248 Hypoplastic left heart syndrome Human_Phenotype_Ontology:HP:0004383,MONDO:MONDO:0004933,MedGen:C0152101,OMIM:PS241550,Orphanet:2248 4 4 1.0000 condition_record_support_limited 20 0 1 Hypoplastic_left_heart_syndrome 163 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH1 human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 4 4 1.0000 condition_record_support_limited 20 0 0 Heart,_malformation_of 163 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOG mondo_mondo_0008521_medgen_c1861305_omim_186570_orphanet_1412 Tarsal-carpal coalition syndrome MONDO:MONDO:0008521,MedGen:C1861305,OMIM:186570,Orphanet:1412 4 4 1.0000 condition_record_support_limited 20 0 3 Tarsal-carpal_coalition_syndrome 50 single_exon_hotspot_opportunity local_compact_architecture NOG nog_related_disorder NOG-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 0 NOG-related_disorder 50 single_exon_hotspot_opportunity local_compact_architecture NOG mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 50 single_exon_hotspot_opportunity local_compact_architecture NODAL condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene NLRP2 mondo_mondo_0957230_medgen_c5830441_omim_620332 Oocyte/zygote/embryo maturation arrest 18 MONDO:MONDO:0957230,MedGen:C5830441,OMIM:620332 4 4 1.0000 condition_record_support_limited 20 0 0 Oocyte/zygote/embryo_maturation_arrest_18 4 low_record_burden_interpretation_limited low_record_burden_gene NLGN4X condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene NLGN4X mondo_mondo_0010341_medgen_c1845539_omim_300495 Autism, susceptibility to, X-linked 2 MONDO:MONDO:0010341,MedGen:C1845539,OMIM:300495 4 4 1.0000 condition_record_support_limited 20 0 2 Autism,_susceptibility_to,_X-linked_2 9 low_record_burden_interpretation_limited low_record_burden_gene NKX3-2 mondo_mondo_0013228_medgen_c2750066_omim_613330_orphanet_228387 Spondylo-megaepiphyseal-metaphyseal dysplasia MONDO:MONDO:0013228,MedGen:C2750066,OMIM:613330,Orphanet:228387 4 4 1.0000 condition_record_support_limited 20 0 1 Spondylo-megaepiphyseal-metaphyseal_dysplasia 9 low_record_burden_interpretation_limited low_record_burden_gene NKX2-6 mondo_mondo_0016581_medgen_c1857586_omim_217095_orphanet_2445_orphanet_3384_orphanet_3426 Conotruncal heart malformations MONDO:MONDO:0016581,MedGen:C1857586,OMIM:217095,Orphanet:2445,Orphanet:3384,Orphanet:3426 4 4 1.0000 condition_record_support_limited 20 0 2 Conotruncal_heart_malformations 4 low_record_burden_interpretation_limited low_record_burden_gene NKX2-5 human_phenotype_ontology_hp_0001636_mondo_mondo_0008542_medgen_c0039685_omim_187500_orphanet_3303 Tetralogy of Fallot Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303 4 4 1.0000 condition_record_support_limited 20 0 2 Tetralogy_of_Fallot 125 compact_adjacent_exon_block_opportunity local_compact_architecture NKX2-5 mondo_mondo_0005453_medgen_c0152021 Congenital heart disease MONDO:MONDO:0005453,MedGen:C0152021 4 4 1.0000 condition_record_support_limited 20 0 1 Congenital_heart_disease 125 compact_adjacent_exon_block_opportunity local_compact_architecture NIPA1 mondo_mondo_0010878_medgen_c1838192_omim_600363_orphanet_100988 Hereditary spastic paraplegia 6 MONDO:MONDO:0010878,MedGen:C1838192,OMIM:600363,Orphanet:100988 4 4 1.0000 condition_record_support_limited 20 0 3 Hereditary_spastic_paraplegia_6 4 low_record_burden_interpretation_limited low_record_burden_gene NICN1 mondo_mondo_0958179_medgen_cn376801_omim_605899 Glycine encephalopathy 1 MONDO:MONDO:0958179,MedGen:CN376801,OMIM:605899 4 4 1.0000 condition_record_support_limited 20 0 4 Glycine_encephalopathy_1 17 low_record_burden_interpretation_limited low_record_burden_gene NFIX nfix_related_disorder NFIX-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 NFIX-related_disorder 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIA nfia_related_disorder NFIA-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 NFIA-related_disorder 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFE2L2 mondo_mondo_0060591_medgen_c4540293_omim_617744 Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:MONDO:0060591,MedGen:C4540293,OMIM:617744 4 4 1.0000 condition_record_support_limited 20 0 2 Immunodeficiency,_developmental_delay,_and_hypohomocysteinemia 5 low_record_burden_interpretation_limited low_record_burden_gene NF2 mondo_mondo_0011789_medgen_c3551915_omim_607174_orphanet_263662 Familial meningioma MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174,Orphanet:263662 4 4 1.0000 condition_record_support_limited 20 0 2 Familial_meningioma 285 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 4 4 1.0000 condition_record_support_limited 20 0 4 RASopathy 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NEXMIF mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 218 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEUROG1 mondo_mondo_0957563_medgen_c5882675_omim_620469 Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay MONDO:MONDO:0957563,MedGen:C5882675,OMIM:620469 4 4 1.0000 condition_record_support_limited 20 0 1 Cranial_dysinnervation_disorder,_congenital,_with_absent_corneal_reflex_and_developmental_delay 4 low_record_burden_interpretation_limited low_record_burden_gene NEU1 mondo_mondo_0019346_medgen_c0023806_orphanet_812 Sialidosis type 1 MONDO:MONDO:0019346,MedGen:C0023806,Orphanet:812 4 4 1.0000 condition_record_support_limited 20 0 2 Sialidosis_type_1 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEK8 nek8_related_disorder NEK8-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 NEK8-related_disorder 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEK2 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 5 low_record_burden_interpretation_limited low_record_burden_gene NEIL1 mondo_mondo_0030770_medgen_c5676931_omim_619775 Congenital disorder of deglycosylation 2 MONDO:MONDO:0030770,MedGen:C5676931,OMIM:619775 4 4 1.0000 condition_record_support_limited 20 0 0 Congenital_disorder_of_deglycosylation_2 4 low_record_burden_interpretation_limited low_record_burden_gene NEFH condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene NEFH mondo_mondo_0014836_medgen_c4310790_omim_616924 Charcot-Marie-Tooth disease axonal type 2CC MONDO:MONDO:0014836,MedGen:C4310790,OMIM:616924 4 4 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease_axonal_type_2CC 9 low_record_burden_interpretation_limited low_record_burden_gene NECAP1 mondo_mondo_0014360_medgen_c4014430_omim_615833_orphanet_442835 Developmental and epileptic encephalopathy, 21 MONDO:MONDO:0014360,MedGen:C4014430,OMIM:615833,Orphanet:442835 4 4 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_21 5 low_record_burden_interpretation_limited low_record_burden_gene NDUFV1 ndufv1_related_disorder NDUFV1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 NDUFV1-related_disorder 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFV1 mondo_mondo_0100224_medgen_cn257533_omim_252010 Mitochondrial complex I deficiency, nuclear type 1 MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 4 4 1.0000 condition_record_support_limited 20 0 3 Mitochondrial_complex_I_deficiency,_nuclear_type_1 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFS3 mondo_mondo_0032613_medgen_c4748766_omim_618230 Mitochondrial complex I deficiency, nuclear type 8 MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230 4 4 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_complex_I_deficiency,_nuclear_type_8 9 low_record_burden_interpretation_limited low_record_burden_gene NDUFS1 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 4 4 1.0000 condition_record_support_limited 20 0 1 Leigh_syndrome 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFB8 mondo_mondo_0032635_medgen_c4748839_omim_618252 Mitochondrial complex I deficiency, nuclear type 32 MONDO:MONDO:0032635,MedGen:C4748839,OMIM:618252 4 4 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_I_deficiency,_nuclear_type_32 4 low_record_burden_interpretation_limited low_record_burden_gene NDUFAF8 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 4 4 1.0000 condition_record_support_limited 20 0 4 Mitochondrial_disease 5 low_record_burden_interpretation_limited low_record_burden_gene NDUFAF2 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 4 4 1.0000 condition_record_support_limited 20 0 3 Leigh_syndrome 23 compact_adjacent_exon_block_opportunity local_compact_architecture NDUFA11 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene NDST1 mondo_mondo_0014499_medgen_c4015283_omim_616116_orphanet_88616 Intellectual disability, autosomal recessive 46 MONDO:MONDO:0014499,MedGen:C4015283,OMIM:616116,Orphanet:88616 4 4 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_autosomal_recessive_46 4 low_record_burden_interpretation_limited low_record_burden_gene NDRG1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 4 not_provided 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDE1 mondo_mondo_0011504_medgen_c1857977_omim_605013_orphanet_443162 NDE1-related microhydranencephaly MONDO:MONDO:0011504,MedGen:C1857977,OMIM:605013,Orphanet:443162 4 4 1.0000 condition_record_support_limited 20 0 2 NDE1-related_microhydranencephaly 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NBN mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 4 4 1.0000 condition_record_support_limited 20 0 4 Malignant_tumor_of_breast 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NBEA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 81 large_gene_or_donor_burden_stress_case donor_burden_stress NARS2 mondo_mondo_0032749_medgen_c5193096_omim_618434 Hearing loss, autosomal recessive 94 MONDO:MONDO:0032749,MedGen:C5193096,OMIM:618434 4 4 1.0000 condition_record_support_limited 20 0 3 Hearing_loss,_autosomal_recessive_94 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAGA mondo_mondo_0017779_medgen_c5848084_orphanet_3137 Alpha-N-acetylgalactosaminidase deficiency MONDO:MONDO:0017779,MedGen:C5848084,Orphanet:3137 4 4 1.0000 condition_record_support_limited 20 0 3 Alpha-N-acetylgalactosaminidase_deficiency 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NADSYN1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene NAA15 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 4 4 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAA10 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYT1L mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYT1L medgen_c4013980 Early onset severe obesity MedGen:C4013980 4 4 1.0000 condition_record_support_limited 20 0 0 Early_onset_severe_obesity 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYRF human_phenotype_ontology_hp_0000776_human_phenotype_ontology_hp_0006604_mondo_mondo_0005711_mesh_d065630_medgen_c0235833_omim_ps142340_orphanet_2140 Congenital diaphragmatic hernia Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140 4 4 1.0000 condition_record_support_limited 20 0 4 Congenital_diaphragmatic_hernia 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYPN mypn_related_disorder MYPN-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 MYPN-related_disorder 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO7A monogenic_hearing_loss Monogenic hearing loss . 4 4 1.0000 condition_record_support_limited 20 0 3 Monogenic_hearing_loss 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO7A medgen_c0011053 Deafness MedGen:C0011053 4 4 1.0000 condition_record_support_limited 20 0 4 Deafness 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO6 mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 4 4 1.0000 condition_record_support_limited 20 0 2 Nonsyndromic_genetic_hearing_loss 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO5B diarrhea_2_with_microvillus_atrophy_and_cholestasis DIARRHEA 2, WITH MICROVILLUS ATROPHY AND CHOLESTASIS . 4 4 1.0000 condition_record_support_limited 20 0 0 DIARRHEA_2,_WITH_MICROVILLUS_ATROPHY_AND_CHOLESTASIS 104 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO3A medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 4 4 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO3A myo3a_related_disorder MYO3A-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 MYO3A-related_disorder 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO1H mondo_mondo_0030537_medgen_c5561963_omim_619482 Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction MONDO:MONDO:0030537,MedGen:C5561963,OMIM:619482 4 4 1.0000 condition_record_support_limited 20 0 0 Central_hypoventilation_syndrome,_congenital,_2,_and_autonomic_dysfunction 4 low_record_burden_interpretation_limited low_record_burden_gene MYO1E human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 4 4 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO18B myo18b_related_disorder MYO18B-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 MYO18B-related_disorder 140 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYL2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 4 4 1.0000 condition_record_support_limited 20 0 4 Cardiovascular_phenotype 17 low_record_burden_interpretation_limited low_record_burden_gene MYL11 human_phenotype_ontology_hp_0005684_mondo_mondo_0019942_medgen_c0265213_omim_ps108120_orphanet_97120 Distal arthrogryposis Human_Phenotype_Ontology:HP:0005684,MONDO:MONDO:0019942,MedGen:C0265213,OMIM:PS108120,Orphanet:97120 4 4 1.0000 condition_record_support_limited 20 0 4 Distal_arthrogryposis 4 low_record_burden_interpretation_limited low_record_burden_gene MYL11 mondo_mondo_0030847_medgen_c5436834_omim_619110 Arthrogryposis, distal, type 1C MONDO:MONDO:0030847,MedGen:C5436834,OMIM:619110 4 4 1.0000 condition_record_support_limited 20 0 4 Arthrogryposis,_distal,_type_1C 4 low_record_burden_interpretation_limited low_record_burden_gene MYH9 human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 4 4 1.0000 condition_record_support_limited 20 0 4 Thrombocytopenia 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH7 mondo_mondo_0800351_medgen_c3150690 Left ventricular noncompaction 5 MONDO:MONDO:0800351,MedGen:C3150690 4 4 1.0000 condition_record_support_limited 20 0 3 Left_ventricular_noncompaction_5 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 124 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH2 myh2_related_disorder MYH2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 MYH2-related_disorder 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYCN mondo_mondo_0958279_medgen_c5935591_omim_620748 Megalencephaly-polydactyly syndrome MONDO:MONDO:0958279,MedGen:C5935591,OMIM:620748 4 4 1.0000 condition_record_support_limited 20 0 4 Megalencephaly-polydactyly_syndrome 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC1 mondo_mondo_0013698_medgen_c3280526_omim_614335_orphanet_1146 Arthrogryposis, distal, type 1B MONDO:MONDO:0013698,MedGen:C3280526,OMIM:614335,Orphanet:1146 4 4 1.0000 condition_record_support_limited 20 0 2 Arthrogryposis,_distal,_type_1B 14 low_record_burden_interpretation_limited low_record_burden_gene MTX2 progeroid_mandibuloacral_dysplasia Progeroid mandibuloacral dysplasia . 4 4 1.0000 condition_record_support_limited 20 0 4 Progeroid_mandibuloacral_dysplasia 7 low_record_burden_interpretation_limited low_record_burden_gene MTR mtr_related_disorder MTR-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 MTR-related_disorder 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTOR mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 52 large_gene_or_donor_burden_stress_case donor_burden_stress MTMR2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTMR2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTM1 mtm1_related_disorder MTM1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 MTM1-related_disorder 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSX2 mondo_mondo_0011481_medgen_c1858160_omim_604757_orphanet_1541 Craniosynostosis 2 MONDO:MONDO:0011481,MedGen:C1858160,OMIM:604757,Orphanet:1541 4 4 1.0000 condition_record_support_limited 20 0 3 Craniosynostosis_2 14 low_record_burden_interpretation_limited low_record_burden_gene MSX1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 29 compact_adjacent_exon_block_opportunity local_compact_architecture MSR1 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 4 4 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 8 low_record_burden_interpretation_limited low_record_burden_gene MSN mondo_mondo_0010514_medgen_c5568123_omim_300988_orphanet_504530 Combined immunodeficiency due to moesin deficiency MONDO:MONDO:0010514,MedGen:C5568123,OMIM:300988,Orphanet:504530 4 4 1.0000 condition_record_support_limited 20 0 2 Combined_immunodeficiency_due_to_moesin_deficiency 18 low_record_burden_interpretation_limited low_record_burden_gene MSH6 mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 4 4 1.0000 condition_record_support_limited 20 0 4 Malignant_tumor_of_breast 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH6 human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 4 4 1.0000 condition_record_support_limited 20 0 4 Breast_carcinoma 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH4 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 4 4 1.0000 condition_record_support_limited 20 0 2 Non-obstructive_azoospermia 15 low_record_burden_interpretation_limited low_record_burden_gene MSH2 human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 4 4 1.0000 condition_record_support_limited 20 0 4 Breast_carcinoma 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MRPL49 mondo_mondo_0009300_medgen_c4551721_omim_233400_orphanet_2855_orphanet_642945 Perrault syndrome 1 MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400,Orphanet:2855,Orphanet:642945 4 4 1.0000 condition_record_support_limited 20 0 4 Perrault_syndrome_1 6 low_record_burden_interpretation_limited low_record_burden_gene MRAS mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 4 4 1.0000 condition_record_support_limited 20 0 3 RASopathy 5 low_record_burden_interpretation_limited low_record_burden_gene MPZL2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene MPZ mondo_mondo_0011527_medgen_c4721436_omim_605253_orphanet_99951 Charcot-Marie-Tooth disease type 4E MONDO:MONDO:0011527,MedGen:C4721436,OMIM:605253,Orphanet:99951 4 4 1.0000 condition_record_support_limited 20 0 4 Charcot-Marie-Tooth_disease_type_4E 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPL human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 4 4 1.0000 condition_record_support_limited 20 0 4 Thrombocytopenia 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MORC2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MORC2 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 4 4 1.0000 condition_record_support_limited 20 0 4 Charcot-Marie-Tooth_disease 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MOGS condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MOCS2 human_phenotype_ontology_hp_0003570_mondo_mondo_0020480_medgen_c0268119_omim_ps252150_orphanet_833_orphanet_99732 Combined molybdoflavoprotein enzyme deficiency Human_Phenotype_Ontology:HP:0003570,MONDO:MONDO:0020480,MedGen:C0268119,OMIM:PS252150,Orphanet:833,Orphanet:99732 4 4 1.0000 condition_record_support_limited 20 0 4 Combined_molybdoflavoprotein_enzyme_deficiency 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MOCS1 mocs1_related_disorder MOCS1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 MOCS1-related_disorder 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMP13 mondo_mondo_0009597_medgen_c0432225_omim_250400_orphanet_2501 Metaphyseal chondrodysplasia, Spahr type MONDO:MONDO:0009597,MedGen:C0432225,OMIM:250400,Orphanet:2501 4 4 1.0000 condition_record_support_limited 20 0 3 Metaphyseal_chondrodysplasia,_Spahr_type 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMP13 medgen_c4016643 Metaphyseal anadysplasia 1, autosomal dominant MedGen:C4016643 4 4 1.0000 condition_record_support_limited 20 0 3 Metaphyseal_anadysplasia_1,_autosomal_dominant 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMACHC medgen_c4693974 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC MedGen:C4693974 4 4 1.0000 condition_record_support_limited 20 0 2 METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA,_cblC_TYPE,_DIGENIC 178 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMAA mmaa_related_disorder MMAA-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 MMAA-related_disorder 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MLIP condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene MLH3 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene MLH1 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 4 4 1.0000 condition_record_support_limited 20 0 3 Hereditary_breast_ovarian_cancer_syndrome 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MKRN3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene MITF medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 4 4 1.0000 condition_record_support_limited 20 0 2 Rare_genetic_deafness 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITF monogenic_hearing_loss Monogenic hearing loss . 4 4 1.0000 condition_record_support_limited 20 0 3 Monogenic_hearing_loss 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITD1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene MID2 mondo_mondo_0010489_medgen_c3890168_omim_300928_orphanet_777 Intellectual disability, X-linked 101 MONDO:MONDO:0010489,MedGen:C3890168,OMIM:300928,Orphanet:777 4 4 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_X-linked_101 4 low_record_burden_interpretation_limited low_record_burden_gene MID1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MGP mondo_mondo_0009495_medgen_c1855607_omim_245150_orphanet_85202 Keutel syndrome MONDO:MONDO:0009495,MedGen:C1855607,OMIM:245150,Orphanet:85202 4 4 1.0000 condition_record_support_limited 20 0 1 Keutel_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene MGME1 mondo_mondo_0014039_medgen_c3554462_omim_615084_orphanet_352447 Mitochondrial DNA depletion syndrome 11 MONDO:MONDO:0014039,MedGen:C3554462,OMIM:615084,Orphanet:352447 4 4 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_DNA_depletion_syndrome_11 13 low_record_burden_interpretation_limited low_record_burden_gene MESD condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene MEIOB mondo_mondo_0958035_medgen_c5882747_omim_620686 Premature ovarian failure 23 MONDO:MONDO:0958035,MedGen:C5882747,OMIM:620686 4 4 1.0000 condition_record_support_limited 20 0 3 Premature_ovarian_failure_23 10 low_record_burden_interpretation_limited low_record_burden_gene MEFV mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEF2C human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEF2C mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 4 4 1.0000 condition_record_support_limited 20 0 3 Autism_spectrum_disorder 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED12L human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 35 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MECP2 x_linked_mecp2_related_disorders X-linked MECP2-related disorders . 4 4 1.0000 condition_record_support_limited 20 0 4 X-linked_MECP2-related_disorders 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 4 4 1.0000 condition_record_support_limited 20 0 3 Seizure 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 medgen_c2677682 Rett syndrome, zappella variant MedGen:C2677682 4 4 1.0000 condition_record_support_limited 20 0 4 Rett_syndrome,_zappella_variant 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MDFIC mondo_mondo_0031043_medgen_c5774203_omim_620014 Lymphatic malformation 12 MONDO:MONDO:0031043,MedGen:C5774203,OMIM:620014 4 4 1.0000 condition_record_support_limited 20 0 1 Lymphatic_malformation_12 5 low_record_burden_interpretation_limited low_record_burden_gene MCOLN1 mcoln1_related_disorder MCOLN1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 MCOLN1-related_disorder 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCM7 mondo_mondo_0016817_medgen_c1868684_omim_ps224690_orphanet_2554 Meier-Gorlin syndrome MONDO:MONDO:0016817,MedGen:C1868684,OMIM:PS224690,Orphanet:2554 4 4 1.0000 condition_record_support_limited 20 0 1 Meier-Gorlin_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene MCM3AP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 107 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture MCM10 mondo_mondo_0030266_medgen_c5543344_omim_619313 Immunodeficiency 80 with or without congenital cardiomyopathy MONDO:MONDO:0030266,MedGen:C5543344,OMIM:619313 4 4 1.0000 condition_record_support_limited 20 0 2 Immunodeficiency_80_with_or_without_congenital_cardiomyopathy 4 low_record_burden_interpretation_limited low_record_burden_gene MAX medgen_c3149711 Pheochromocytoma, susceptibility to MedGen:C3149711 4 4 1.0000 condition_record_support_limited 20 0 4 Pheochromocytoma,_susceptibility_to 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAPT mondo_mondo_0008199_medgen_c3160718_omim_168600_orphanet_411602 Parkinson disease, late-onset MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600,Orphanet:411602 4 4 1.0000 condition_record_support_limited 20 0 4 Parkinson_disease,_late-onset 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAPK8IP3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 19 low_record_burden_interpretation_limited low_record_burden_gene MAPK1 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 4 4 1.0000 condition_record_support_limited 20 0 4 Short_stature 13 low_record_burden_interpretation_limited low_record_burden_gene MAPK1 human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 4 4 1.0000 condition_record_support_limited 20 0 4 Heart,_malformation_of 13 low_record_burden_interpretation_limited low_record_burden_gene MAP2K1 mondo_mondo_0024291_medgen_c0158570 Vascular malformation MONDO:MONDO:0024291,MedGen:C0158570 4 4 1.0000 condition_record_support_limited 20 0 3 Vascular_malformation 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MANBA manba_related_disorder MANBA-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 MANBA-related_disorder 109 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAMLD1 mondo_mondo_0010423_medgen_c2677879_omim_300758_orphanet_440 Hypospadias 2, X-linked MONDO:MONDO:0010423,MedGen:C2677879,OMIM:300758,Orphanet:440 4 4 1.0000 condition_record_support_limited 20 0 1 Hypospadias_2,_X-linked 7 low_record_burden_interpretation_limited low_record_burden_gene MAGT1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAGEL2 mondo_mondo_0008300_medgen_c0032897_omim_176270_orphanet_739 Prader-Willi syndrome MONDO:MONDO:0008300,MedGen:C0032897,OMIM:176270,Orphanet:739 4 4 1.0000 condition_record_support_limited 20 0 1 Prader-Willi_syndrome 95 single_exon_hotspot_opportunity local_compact_architecture MAGEL2 magel2_related_disorder MAGEL2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 MAGEL2-related_disorder 95 single_exon_hotspot_opportunity local_compact_architecture MAFB mondo_mondo_0014880_medgen_c4310752_omim_617041_orphanet_233 Duane retraction syndrome 3 with or without deafness MONDO:MONDO:0014880,MedGen:C4310752,OMIM:617041,Orphanet:233 4 4 1.0000 condition_record_support_limited 20 0 4 Duane_retraction_syndrome_3_with_or_without_deafness 24 single_exon_hotspot_opportunity local_compact_architecture MAF human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 4 4 1.0000 condition_record_support_limited 20 0 0 Developmental_cataract 40 compact_adjacent_exon_block_opportunity local_compact_architecture MAF mondo_mondo_0014533_medgen_c4015519_omim_616211_orphanet_442835 Developmental and epileptic encephalopathy, 28 MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211,Orphanet:442835 4 4 1.0000 condition_record_support_limited 20 0 3 Developmental_and_epileptic_encephalopathy,_28 40 compact_adjacent_exon_block_opportunity local_compact_architecture MAF mondo_mondo_0013687_medgen_c3280452_omim_614322_orphanet_284282 Autosomal recessive spinocerebellar ataxia 12 MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322,Orphanet:284282 4 4 1.0000 condition_record_support_limited 20 0 4 Autosomal_recessive_spinocerebellar_ataxia_12 40 compact_adjacent_exon_block_opportunity local_compact_architecture MACF1 lissencephaly_with_brainstem_hypoplasia lissencephaly with brainstem hypoplasia . 4 4 1.0000 condition_record_support_limited 20 0 4 lissencephaly_with_brainstem_hypoplasia 20 large_gene_or_donor_burden_stress_case donor_burden_stress MACF1 lissencephaly_with_decussation_defect Lissencephaly with decussation defect . 4 4 1.0000 condition_record_support_limited 20 0 4 Lissencephaly_with_decussation_defect 20 large_gene_or_donor_burden_stress_case donor_burden_stress LZTR1 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 Noonan syndrome 1 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 4 4 1.0000 condition_record_support_limited 20 0 3 Noonan_syndrome_1 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LYST lyst_related_disorder LYST-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 LYST-related_disorder 272 large_gene_or_donor_burden_stress_case donor_burden_stress LYN mondo_mondo_0957271_medgen_c5830525_omim_620376 Autoinflammatory disease, systemic, with vasculitis MONDO:MONDO:0957271,MedGen:C5830525,OMIM:620376 4 4 1.0000 condition_record_support_limited 20 0 3 Autoinflammatory_disease,_systemic,_with_vasculitis 4 low_record_burden_interpretation_limited low_record_burden_gene LTBP3 ltbp3_related_disorder LTBP3-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 LTBP3-related_disorder 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRRC56 human_phenotype_ontology_hp_0010815_medgen_c3854181 Nevus sebaceous Human_Phenotype_Ontology:HP:0010815,MedGen:C3854181 4 4 1.0000 condition_record_support_limited 20 0 4 Nevus_sebaceous 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 mondo_mondo_0800299_medgen_c1968782 Myopathy, congenital, with excess of muscle spindles MONDO:MONDO:0800299,MedGen:C1968782 4 4 1.0000 condition_record_support_limited 20 0 4 Myopathy,_congenital,_with_excess_of_muscle_spindles 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC37A2 mondo_mondo_0013526_medgen_c5190805_omim_614018_orphanet_280620 Progressive myoclonic epilepsy type 6 MONDO:MONDO:0013526,MedGen:C5190805,OMIM:614018,Orphanet:280620 4 4 1.0000 condition_record_support_limited 20 0 3 Progressive_myoclonic_epilepsy_type_6 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRRC37A2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRPAP1 mondo_mondo_0014183_medgen_c3809482_omim_615431 Myopia 23, autosomal recessive MONDO:MONDO:0014183,MedGen:C3809482,OMIM:615431 4 4 1.0000 condition_record_support_limited 20 0 0 Myopia_23,_autosomal_recessive 5 low_record_burden_interpretation_limited low_record_burden_gene LRP5 medgen_c4016839 Exudative vitreoretinopathy 4, autosomal recessive MedGen:C4016839 4 4 1.0000 condition_record_support_limited 20 0 3 Exudative_vitreoretinopathy_4,_autosomal_recessive 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP4 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 46 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LRP4 lrp4_related_disorder LRP4-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 0 LRP4-related_disorder 46 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LRP1 mondo_mondo_0958037_medgen_c5882750_omim_620690 Developmental dysplasia of the hip 3 MONDO:MONDO:0958037,MedGen:C5882750,OMIM:620690 4 4 1.0000 condition_record_support_limited 20 0 0 Developmental_dysplasia_of_the_hip_3 6 low_record_burden_interpretation_limited low_record_burden_gene LRIG2 mondo_mondo_0014049_medgen_c3554520_omim_615112_orphanet_2704 Urofacial syndrome 2 MONDO:MONDO:0014049,MedGen:C3554520,OMIM:615112,Orphanet:2704 4 4 1.0000 condition_record_support_limited 20 0 0 Urofacial_syndrome_2 11 low_record_burden_interpretation_limited low_record_burden_gene LRAT mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 4 4 1.0000 condition_record_support_limited 20 0 1 Leber_congenital_amaurosis 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LPL lpl_related_disorder LPL-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 LPL-related_disorder 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LOXL3 mondo_mondo_0044723_medgen_c4310650_omim_617248_orphanet_505208 3-methylglutaconic aciduria type 8 MONDO:MONDO:0044723,MedGen:C4310650,OMIM:617248,Orphanet:505208 4 4 1.0000 condition_record_support_limited 20 0 2 3-methylglutaconic_aciduria_type_8 8 low_record_burden_interpretation_limited low_record_burden_gene LOX mondo_mondo_0024559_medgen_c0345050_omim_607086_orphanet_229 Congenital aneurysm of ascending aorta MONDO:MONDO:0024559,MedGen:C0345050,OMIM:607086,Orphanet:229 4 4 1.0000 condition_record_support_limited 20 0 4 Congenital_aneurysm_of_ascending_aorta 54 compact_adjacent_exon_block_opportunity local_compact_architecture LOX medgen_c0241868 Acute aortic dissection MedGen:C0241868 4 4 1.0000 condition_record_support_limited 20 0 4 Acute_aortic_dissection 54 compact_adjacent_exon_block_opportunity local_compact_architecture LMX1B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 148 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMNB1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 4 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene LMBRD2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene LMBR1 mondo_mondo_0008572_medgen_c1861098_omim_188740_orphanet_3332_orphanet_988 Tibia, hypoplasia or aplasia of, with polydactyly MONDO:MONDO:0008572,MedGen:C1861098,OMIM:188740,Orphanet:3332,Orphanet:988 4 4 1.0000 condition_record_support_limited 20 0 2 Tibia,_hypoplasia_or_aplasia_of,_with_polydactyly 18 low_record_burden_interpretation_limited low_record_burden_gene LIPT1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene LIPA lipa_related_disorder LIPA-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 LIPA-related_disorder 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LIG4 human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 4 4 1.0000 condition_record_support_limited 20 0 4 Severe_combined_immunodeficiency_disease 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LHCGR medgen_c3668935 Luteinizing hormone resistance, female MedGen:C3668935 4 4 1.0000 condition_record_support_limited 20 0 4 Luteinizing_hormone_resistance,_female 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LHCGR lhcgr_related_disorder LHCGR-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 LHCGR-related_disorder 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LGI1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 4 4 1.0000 condition_record_support_limited 20 0 3 Seizure 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LDB3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LCAT cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 4 4 1.0000 condition_record_support_limited 20 0 3 Cardiovascular_phenotype 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAS1L mondo_mondo_0010665_medgen_c1839736_omim_309585_orphanet_3459 Wilson-Turner syndrome MONDO:MONDO:0010665,MedGen:C1839736,OMIM:309585,Orphanet:3459 4 4 1.0000 condition_record_support_limited 20 0 2 Wilson-Turner_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene LAMC3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMB2 lamb2_related_disorder LAMB2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 LAMB2-related_disorder 108 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LAMA2 congenital_muscular_dystrophy_lama2_related Congenital Muscular Dystrophy, LAMA2-related . 4 4 1.0000 condition_record_support_limited 20 0 4 Congenital_Muscular_Dystrophy,_LAMA2-related 953 large_gene_or_donor_burden_stress_case donor_burden_stress KYNU kynu_related_disorder KYNU-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 0 KYNU-related_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRT9 human_phenotype_ontology_hp_0007559_mondo_mondo_0968949_medgen_c1721006_omim_ps144200 Palmoplantar keratoderma, epidermolytic Human_Phenotype_Ontology:HP:0007559,MONDO:MONDO:0968949,MedGen:C1721006,OMIM:PS144200 4 4 1.0000 condition_record_support_limited 20 0 3 Palmoplantar_keratoderma,_epidermolytic 18 low_record_burden_interpretation_limited low_record_burden_gene KRT6B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene KRT6B mondo_mondo_0014325_medgen_c3714949_omim_615728_orphanet_2309 Pachyonychia congenita 4 MONDO:MONDO:0014325,MedGen:C3714949,OMIM:615728,Orphanet:2309 4 4 1.0000 condition_record_support_limited 20 0 3 Pachyonychia_congenita_4 5 low_record_burden_interpretation_limited low_record_burden_gene KRT5 mondo_mondo_0007551_medgen_c0080333_omim_131800_orphanet_79400 Epidermolysis bullosa simplex 1C, localized MONDO:MONDO:0007551,MedGen:C0080333,OMIM:131800,Orphanet:79400 4 4 1.0000 condition_record_support_limited 20 0 4 Epidermolysis_bullosa_simplex_1C,_localized 96 compact_adjacent_exon_block_opportunity local_compact_architecture KRT14 mondo_mondo_0008059_medgen_c0343111_omim_161000_orphanet_69087 Naegeli-Franceschetti-Jadassohn syndrome MONDO:MONDO:0008059,MedGen:C0343111,OMIM:161000,Orphanet:69087 4 4 1.0000 condition_record_support_limited 20 0 4 Naegeli-Franceschetti-Jadassohn_syndrome 76 compact_adjacent_exon_block_opportunity local_compact_architecture KRT10 mondo_mondo_0700245_medgen_c5882753_omim_620707 Epidermolytic hyperkeratosis 2B, autosomal recessive MONDO:MONDO:0700245,MedGen:C5882753,OMIM:620707 4 4 1.0000 condition_record_support_limited 20 0 3 Epidermolytic_hyperkeratosis_2B,_autosomal_recessive 41 compact_adjacent_exon_block_opportunity local_compact_architecture KRT1 mondo_mondo_0011870_medgen_c1843463_omim_ps607602_orphanet_281139 Annular epidermolytic ichthyosis MONDO:MONDO:0011870,MedGen:C1843463,OMIM:PS607602,Orphanet:281139 4 4 1.0000 condition_record_support_limited 20 0 3 Annular_epidermolytic_ichthyosis 48 compact_adjacent_exon_block_opportunity local_compact_architecture KRIT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0008903_medgen_c0242379_omim_211980 Lung cancer MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 4 4 1.0000 condition_record_support_limited 20 0 4 Lung_cancer 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS human_phenotype_ontology_hp_0012209_mondo_mondo_0011908_medgen_c0349639_omim_607785_orphanet_86834 Juvenile myelomonocytic leukemia Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834 4 4 1.0000 condition_record_support_limited 20 0 4 Juvenile_myelomonocytic_leukemia 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 4 4 1.0000 condition_record_support_limited 20 0 4 Gastric_cancer 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 4 4 1.0000 condition_record_support_limited 20 0 4 Familial_cancer_of_breast 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KMT2B kmt2b_related_disorder KMT2B-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 0 KMT2B-related_disorder 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2A mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 4 4 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 520 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KLLN mondo_mondo_0017623_mesh_d006223_medgen_c1959582_orphanet_306498 PTEN hamartoma tumor syndrome MONDO:MONDO:0017623,MeSH:D006223,MedGen:C1959582,Orphanet:306498 4 4 1.0000 condition_record_support_limited 20 0 0 PTEN_hamartoma_tumor_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene KLKB1 mondo_mondo_0044744_medgen_c0272339 Prekallikrein deficiency MONDO:MONDO:0044744,MedGen:C0272339 4 4 1.0000 condition_record_support_limited 20 0 1 Prekallikrein_deficiency 13 low_record_burden_interpretation_limited low_record_burden_gene KLHL7 klhl7_related_disorder KLHL7-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 KLHL7-related_disorder 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KLHL40 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 44 compact_adjacent_exon_block_opportunity local_compact_architecture KLHL24 mondo_mondo_0007554_medgen_c5561924_omim_131900_orphanet_79399 Epidermolysis bullosa simplex, Koebner type MONDO:MONDO:0007554,MedGen:C5561924,OMIM:131900,Orphanet:79399 4 4 1.0000 condition_record_support_limited 20 0 4 Epidermolysis_bullosa_simplex,_Koebner_type 11 low_record_burden_interpretation_limited low_record_burden_gene KIFBP condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene KIF5C condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 4 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene KIF5A mondo_mondo_0060670_medgen_c4693609_omim_617921 Amyotrophic lateral sclerosis, susceptibility to, 25 MONDO:MONDO:0060670,MedGen:C4693609,OMIM:617921 4 4 1.0000 condition_record_support_limited 20 0 4 Amyotrophic_lateral_sclerosis,_susceptibility_to,_25 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF1A mondo_mondo_0971149_medgen_c5935571_omim_620607 Spastic paraplegia 30B, autosomal recessive MONDO:MONDO:0971149,MedGen:C5935571,OMIM:620607 4 4 1.0000 condition_record_support_limited 20 0 3 Spastic_paraplegia_30B,_autosomal_recessive 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIF1A human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 4 4 1.0000 condition_record_support_limited 20 0 3 Spastic_paraplegia 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIF1A mondo_mondo_0700055_medgen_cn312623 KIF1A related neurological disorder MONDO:MONDO:0700055,MedGen:CN312623 4 4 1.0000 condition_record_support_limited 20 0 2 KIF1A_related_neurological_disorder 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIF11 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 180 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIDINS220 mondo_mondo_0859184_medgen_c5561973_omim_619501 Ventriculomegaly and arthrogryposis MONDO:MONDO:0859184,MedGen:C5561973,OMIM:619501 4 4 1.0000 condition_record_support_limited 20 0 1 Ventriculomegaly_and_arthrogryposis 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIAA0586 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KHDC3L mondo_mondo_0013671_medgen_c3280352_omim_614293_orphanet_254688_orphanet_99927 Hydatidiform mole, recurrent, 2 MONDO:MONDO:0013671,MedGen:C3280352,OMIM:614293,Orphanet:254688,Orphanet:99927 4 4 1.0000 condition_record_support_limited 20 0 1 Hydatidiform_mole,_recurrent,_2 4 low_record_burden_interpretation_limited low_record_burden_gene KDM6B kdm6b_related_disorder KDM6B-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 KDM6B-related_disorder 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM6A mondo_mondo_0007843_medgen_cn030661_omim_147920_orphanet_2322 Kabuki syndrome 1 MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322 4 4 1.0000 condition_record_support_limited 20 0 2 Kabuki_syndrome_1 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM6A kdm6a_related_disorder KDM6A-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 0 KDM6A-related_disorder 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM5A condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene KDM4B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM3B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 41 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KDM2B kdm2b_related_disorder KDM2B-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 0 KDM2B-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene KDM1A mondo_mondo_0700299_medgen_c5975485_omim_620990 ACTH-independent macronodular adrenal hyperplasia 3 MONDO:MONDO:0700299,MedGen:C5975485,OMIM:620990 4 4 1.0000 condition_record_support_limited 20 0 0 ACTH-independent_macronodular_adrenal_hyperplasia_3 16 low_record_burden_interpretation_limited low_record_burden_gene KDELR2 mondo_mondo_0030861_medgen_c5436875_omim_619131 Osteogenesis imperfecta, type 21 MONDO:MONDO:0030861,MedGen:C5436875,OMIM:619131 4 4 1.0000 condition_record_support_limited 20 0 0 Osteogenesis_imperfecta,_type_21 4 low_record_burden_interpretation_limited low_record_burden_gene KCTD7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNV2 kcnv2_related_disorder KCNV2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 KCNV2-related_disorder 80 compact_adjacent_exon_block_opportunity local_compact_architecture KCNT1 kcnt1_related_disorder KCNT1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 KCNT1-related_disorder 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1OT1 efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 Cardiac arrhythmia EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 4 4 1.0000 condition_record_support_limited 20 0 3 Cardiac_arrhythmia 19 low_record_burden_interpretation_limited low_record_burden_gene KCNN3 mondo_mondo_0032854_medgen_c5231447_omim_618658 Zimmermann-Laband syndrome 3 MONDO:MONDO:0032854,MedGen:C5231447,OMIM:618658 4 4 1.0000 condition_record_support_limited 20 0 0 Zimmermann-Laband_syndrome_3 6 low_record_burden_interpretation_limited low_record_burden_gene KCNN2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene KCNMA1 kcnma1_related_disorder KCNMA1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 KCNMA1-related_disorder 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ13 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene KCNJ10 mondo_mondo_0010933_medgen_c3538946_omim_600791_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 4 MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636 4 4 1.0000 condition_record_support_limited 20 0 4 Autosomal_recessive_nonsyndromic_hearing_loss_4 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNE1 mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 Congenital long QT syndrome MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 4 4 1.0000 condition_record_support_limited 20 0 4 Congenital_long_QT_syndrome 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCND2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene KCNC2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene KCNB1 mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 4 4 1.0000 condition_record_support_limited 20 0 4 Developmental_and_epileptic_encephalopathy 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KAT5 mondo_mondo_0030852_medgen_c5436821_omim_619103 Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities MONDO:MONDO:0030852,MedGen:C5436821,OMIM:619103 4 4 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_dysmorphic_facies,_sleep_disturbance,_and_brain_abnormalities 4 low_record_burden_interpretation_limited low_record_burden_gene KARS1 kars1_related_disorder KARS1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 KARS1-related_disorder 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JPH2 mondo_mondo_0013474_medgen_c3151264_omim_613873 Hypertrophic cardiomyopathy 17 MONDO:MONDO:0013474,MedGen:C3151264,OMIM:613873 4 4 1.0000 condition_record_support_limited 20 0 0 Hypertrophic_cardiomyopathy_17 9 low_record_burden_interpretation_limited low_record_burden_gene JPH1 mondo_mondo_0975808_medgen_c5975432_omim_620964 Congenital myopathy 25 MONDO:MONDO:0975808,MedGen:C5975432,OMIM:620964 4 4 1.0000 condition_record_support_limited 20 0 4 Congenital_myopathy_25 4 low_record_burden_interpretation_limited low_record_burden_gene JPH1 mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 Congenital myopathy MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 4 4 1.0000 condition_record_support_limited 20 0 4 Congenital_myopathy 4 low_record_burden_interpretation_limited low_record_burden_gene JMJD1C condition_not_provided condition not provided MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene JAG1 mondo_mondo_0015446_medgen_c3496579_orphanet_1456 Atypical coarctation of aorta MONDO:MONDO:0015446,MedGen:C3496579,Orphanet:1456 4 4 1.0000 condition_record_support_limited 20 0 2 Atypical_coarctation_of_aorta 461 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IVD ivd_related_disorder IVD-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 IVD-related_disorder 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGB3 human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 4 4 1.0000 condition_record_support_limited 20 0 4 Abnormal_bleeding 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGAV mondo_mondo_0980702_medgen_cn380017_omim_621375 Immune dysregulation, neurodevelopmental defects, and colitis MONDO:MONDO:0980702,MedGen:CN380017,OMIM:621375 4 4 1.0000 condition_record_support_limited 20 0 4 Immune_dysregulation,_neurodevelopmental_defects,_and_colitis 5 low_record_burden_interpretation_limited low_record_burden_gene ITGAV itgav_deficiency ITGAV deficiency . 4 4 1.0000 condition_record_support_limited 20 0 4 ITGAV_deficiency 5 low_record_burden_interpretation_limited low_record_burden_gene ITGA3 itga3_related_disorder ITGA3-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 ITGA3-related_disorder 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ISG15 mondo_mondo_0014502_medgen_c4015293_omim_616126_orphanet_319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency MONDO:MONDO:0014502,MedGen:C4015293,OMIM:616126,Orphanet:319563 4 4 1.0000 condition_record_support_limited 20 0 0 Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_ISG15_deficiency 4 low_record_burden_interpretation_limited low_record_burden_gene IRX5 mondo_mondo_0012634_medgen_c1970027_omim_611174_orphanet_314555 Craniofacial dysplasia - osteopenia syndrome MONDO:MONDO:0012634,MedGen:C1970027,OMIM:611174,Orphanet:314555 4 4 1.0000 condition_record_support_limited 20 0 0 Craniofacial_dysplasia_-_osteopenia_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene IRAK1BP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IQCB1 iqcb1_related_disorder IQCB1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 IQCB1-related_disorder 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INTU mondo_mondo_0044328_medgen_c4693616_omim_617925 Short-rib thoracic dysplasia 20 with polydactyly MONDO:MONDO:0044328,MedGen:C4693616,OMIM:617925 4 4 1.0000 condition_record_support_limited 20 0 4 Short-rib_thoracic_dysplasia_20_with_polydactyly 6 low_record_burden_interpretation_limited low_record_burden_gene INTU mondo_mondo_0033375_medgen_c4693640_omim_617926 Orofaciodigital syndrome 17 MONDO:MONDO:0033375,MedGen:C4693640,OMIM:617926 4 4 1.0000 condition_record_support_limited 20 0 3 Orofaciodigital_syndrome_17 6 low_record_burden_interpretation_limited low_record_burden_gene IMPDH1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 4 4 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL6ST mondo_mondo_0030756_medgen_c5676919_omim_619751 Stuve-Wiedemann syndrome 2 MONDO:MONDO:0030756,MedGen:C5676919,OMIM:619751 4 4 1.0000 condition_record_support_limited 20 0 2 Stuve-Wiedemann_syndrome_2 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL1RN condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene IKBKG ectodermal_dysplasia_and_immunodeficiency_1_male_restricted ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED . 4 4 1.0000 condition_record_support_limited 20 0 4 ECTODERMAL_DYSPLASIA_AND_IMMUNODEFICIENCY_1,_MALE-RESTRICTED 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT56 mondo_mondo_0859191_medgen_c5561990_omim_619534 Biliary, renal, neurologic, and skeletal syndrome MONDO:MONDO:0859191,MedGen:C5561990,OMIM:619534 4 4 1.0000 condition_record_support_limited 20 0 2 Biliary,_renal,_neurologic,_and_skeletal_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene IFT140 mondo_mondo_0976267_medgen_c6012712_omim_621164 Polycystic kidney disease 9, susceptibility to MONDO:MONDO:0976267,MedGen:C6012712,OMIM:621164 4 4 1.0000 condition_record_support_limited 20 0 4 Polycystic_kidney_disease_9,_susceptibility_to 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT140 mondo_mondo_0018342_medgen_c4518774_orphanet_397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy MONDO:MONDO:0018342,MedGen:C4518774,Orphanet:397715 4 4 1.0000 condition_record_support_limited 20 0 4 Joubert_syndrome_with_Jeune_asphyxiating_thoracic_dystrophy 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT140 mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 Jeune thoracic dystrophy MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 4 4 1.0000 condition_record_support_limited 20 0 4 Jeune_thoracic_dystrophy 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT140 cystic_renal_disease Cystic renal disease . 4 4 1.0000 condition_record_support_limited 20 0 4 Cystic_renal_disease 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFNGR1 mondo_mondo_0014429_medgen_c4014863_omim_615978_orphanet_319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency MONDO:MONDO:0014429,MedGen:C4014863,OMIM:615978,Orphanet:319581 4 4 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_IFNgammaR1_deficiency 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFNAR2 mondo_mondo_0014727_medgen_c4225252_omim_616669 Immunodeficiency 45 MONDO:MONDO:0014727,MedGen:C4225252,OMIM:616669 4 4 1.0000 condition_record_support_limited 20 0 3 Immunodeficiency_45 13 low_record_burden_interpretation_limited low_record_burden_gene IFNAR1 mondo_mondo_0030970_medgen_c5677009_omim_619935 Immunodeficiency 106, susceptibility to viral infections MONDO:MONDO:0030970,MedGen:C5677009,OMIM:619935 4 4 1.0000 condition_record_support_limited 20 0 3 Immunodeficiency_106,_susceptibility_to_viral_infections 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDUA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 419 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HUWE1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 75 large_gene_or_donor_burden_stress_case donor_burden_stress HTT mondo_mondo_0007739_medgen_c0020179_omim_143100_orphanet_248111_orphanet_399 Huntington disease MONDO:MONDO:0007739,MedGen:C0020179,OMIM:143100,Orphanet:248111,Orphanet:399 4 4 1.0000 condition_record_support_limited 20 0 0 Huntington_disease 10 low_record_burden_interpretation_limited low_record_burden_gene HSPB8 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 3 .|not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene HSPB8 mondo_mondo_0008025_medgen_c1834692_omim_158590_orphanet_139525 Neuronopathy, distal hereditary motor, type 2A MONDO:MONDO:0008025,MedGen:C1834692,OMIM:158590,Orphanet:139525 4 4 1.0000 condition_record_support_limited 20 0 2 Neuronopathy,_distal_hereditary_motor,_type_2A 16 low_record_burden_interpretation_limited low_record_burden_gene HSPB1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 39 compact_adjacent_exon_block_opportunity local_compact_architecture HSD17B3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSD17B3 differences_in_sex_development Differences in sex development . 4 4 1.0000 condition_record_support_limited 20 0 3 Differences_in_sex_development 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HS2ST1 mondo_mondo_0030966_medgen_c5543070_omim_619194 Neurofacioskeletal syndrome with or without renal agenesis MONDO:MONDO:0030966,MedGen:C5543070,OMIM:619194 4 4 1.0000 condition_record_support_limited 20 0 0 Neurofacioskeletal_syndrome_with_or_without_renal_agenesis 6 low_record_burden_interpretation_limited low_record_burden_gene HRURF condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene HRAS human_phenotype_ontology_hp_0010815_medgen_c3854181 Nevus sebaceous Human_Phenotype_Ontology:HP:0010815,MedGen:C3854181 4 4 1.0000 condition_record_support_limited 20 0 4 Nevus_sebaceous 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS mondo_mondo_0800299_medgen_c1968782 Myopathy, congenital, with excess of muscle spindles MONDO:MONDO:0800299,MedGen:C1968782 4 4 1.0000 condition_record_support_limited 20 0 4 Myopathy,_congenital,_with_excess_of_muscle_spindles 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPS6 hps6_related_disorder HPS6-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 HPS6-related_disorder 99 single_exon_hotspot_opportunity local_compact_architecture HPS3 hps3_related_disorder HPS3-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 HPS3-related_disorder 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt1_related_disorder HPRT1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 HPRT1-related_disorder 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HOXD13 mondo_mondo_0008516_medgen_c1861348_omim_186300_orphanet_93406 Syndactyly type 5 MONDO:MONDO:0008516,MedGen:C1861348,OMIM:186300,Orphanet:93406 4 4 1.0000 condition_record_support_limited 20 0 3 Syndactyly_type_5 32 compact_adjacent_exon_block_opportunity local_compact_architecture HOXD13 hoxd13_related_disorder HOXD13-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 HOXD13-related_disorder 32 compact_adjacent_exon_block_opportunity local_compact_architecture HOGA1 hoga1_related_disorder HOGA1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 HOGA1-related_disorder 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNRNPU human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 4 4 1.0000 condition_record_support_limited 20 0 1 Seizure 148 compact_adjacent_exon_block_opportunity local_compact_architecture HNRNPU human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 148 compact_adjacent_exon_block_opportunity local_compact_architecture HNRNPR mondo_mondo_0859297_medgen_c5774231_omim_620073_orphanet_662189 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities MONDO:MONDO:0859297,MedGen:C5774231,OMIM:620073,Orphanet:662189 4 4 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_dysmorphic_facies_and_skeletal_and_brain_abnormalities 8 low_record_burden_interpretation_limited low_record_burden_gene HNRNPH1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene HMGCR condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene HMBS mondo_mondo_0700384_medgen_c1867969 Porphyria, acute intermittent, nonerythroid variant MONDO:MONDO:0700384,MedGen:C1867969 4 4 1.0000 condition_record_support_limited 20 0 2 Porphyria,_acute_intermittent,_nonerythroid_variant 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMBS hmbs_related_disorder HMBS-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 HMBS-related_disorder 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HHAT condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene HEXB mondo_mondo_0017721_medgen_c0751490_orphanet_309155 Sandhoff disease, infantile form MONDO:MONDO:0017721,MedGen:C0751490,Orphanet:309155 4 4 1.0000 condition_record_support_limited 20 0 3 Sandhoff_disease,_infantile_form 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEXA mondo_mondo_0017728_medgen_c1848916 Tay-Sachs disease, B1 variant MONDO:MONDO:0017728,MedGen:C1848916 4 4 1.0000 condition_record_support_limited 20 0 3 Tay-Sachs_disease,_B1_variant 331 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HDAC8 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HCN4 human_phenotype_ontology_hp_0011664_medgen_c4021133 Left ventricular noncompaction cardiomyopathy Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 4 4 1.0000 condition_record_support_limited 20 0 2 Left_ventricular_noncompaction_cardiomyopathy 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HCN2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene HCFC1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene HBG2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene H4C5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided|not_specified 9 low_record_burden_interpretation_limited low_record_burden_gene H4C3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided|not_specified 9 low_record_burden_interpretation_limited low_record_burden_gene H4C3 mondo_mondo_0030729_medgen_c5676922_omim_619758 Tessadori-van Haaften neurodevelopmental syndrome 1 MONDO:MONDO:0030729,MedGen:C5676922,OMIM:619758 4 4 1.0000 condition_record_support_limited 20 0 2 Tessadori-van_Haaften_neurodevelopmental_syndrome_1 9 low_record_burden_interpretation_limited low_record_burden_gene H3-3B human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 4 4 1.0000 condition_record_support_limited 20 0 4 Short_stature 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture H3-3B human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture H3-3B human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 4 4 1.0000 condition_record_support_limited 20 0 4 Global_developmental_delay 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture H3-3B human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 4 4 1.0000 condition_record_support_limited 20 0 4 Delayed_speech_and_language_development 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture H3-3B human_phenotype_ontology_hp_0410263_medgen_c2711610 Brain imaging abnormality Human_Phenotype_Ontology:HP:0410263,MedGen:C2711610 4 4 1.0000 condition_record_support_limited 20 0 4 Brain_imaging_abnormality 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture H3-3A human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 4 4 1.0000 condition_record_support_limited 20 0 4 Short_stature 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture H3-3A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture H3-3A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture H3-3A human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 4 4 1.0000 condition_record_support_limited 20 0 4 Global_developmental_delay 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture H3-3A human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 4 4 1.0000 condition_record_support_limited 20 0 4 Delayed_speech_and_language_development 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture H3-3A human_phenotype_ontology_hp_0410263_medgen_c2711610 Brain imaging abnormality Human_Phenotype_Ontology:HP:0410263,MedGen:C2711610 4 4 1.0000 condition_record_support_limited 20 0 4 Brain_imaging_abnormality 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture H1-4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 36 single_exon_hotspot_opportunity local_compact_architecture GUSB gusb_related_disorder GUSB-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 GUSB-related_disorder 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUK1 mondo_mondo_0976132_medgen_c5975599_omim_621071 Mitochondrial dna depletion syndrome 21 MONDO:MONDO:0976132,MedGen:C5975599,OMIM:621071 4 4 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_dna_depletion_syndrome_21 4 low_record_burden_interpretation_limited low_record_burden_gene GUCY2D gucy2d_related_disorder GUCY2D-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 GUCY2D-related_disorder 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2D human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 4 4 1.0000 condition_record_support_limited 20 0 3 Cone-rod_dystrophy 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2C condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene GUCY2C human_phenotype_ontology_hp_0002610_human_phenotype_ontology_hp_0004401_human_phenotype_ontology_hp_0004402_mondo_mondo_0054868_medgen_c2939175_orphanet_314376 Meconium ileus Human_Phenotype_Ontology:HP:0002610,Human_Phenotype_Ontology:HP:0004401,Human_Phenotype_Ontology:HP:0004402,MONDO:MONDO:0054868,MedGen:C2939175,Orphanet:314376 4 4 1.0000 condition_record_support_limited 20 0 1 Meconium_ileus 13 low_record_burden_interpretation_limited low_record_burden_gene GSTZ1 mondo_mondo_0060527_medgen_c1291607_omim_617596 Maleylacetoacetate isomerase deficiency MONDO:MONDO:0060527,MedGen:C1291607,OMIM:617596 4 4 1.0000 condition_record_support_limited 20 0 1 Maleylacetoacetate_isomerase_deficiency 4 low_record_burden_interpretation_limited low_record_burden_gene GRXCR2 mondo_mondo_0014363_medgen_c3892049_omim_615837_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 101 MONDO:MONDO:0014363,MedGen:C3892049,OMIM:615837,Orphanet:90636 4 4 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_nonsyndromic_hearing_loss_101 7 low_record_burden_interpretation_limited low_record_burden_gene GRM7 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 4 4 1.0000 condition_record_support_limited 20 0 4 Global_developmental_delay 10 low_record_burden_interpretation_limited low_record_burden_gene GRM6 human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Congenital stationary night blindness Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 4 4 1.0000 condition_record_support_limited 20 0 4 Congenital_stationary_night_blindness 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 291 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN1 mondo_mondo_0060629_medgen_c4693325_omim_617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:MONDO:0060629,MedGen:C4693325,OMIM:617820 4 4 1.0000 condition_record_support_limited 20 0 4 Neurodevelopmental_disorder_with_or_without_hyperkinetic_movements_and_seizures,_autosomal_recessive 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN1 grin1_related_disorder GRIN1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 GRIN1-related_disorder 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIK2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 13 low_record_burden_interpretation_limited low_record_burden_gene GRIA3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRHL2 grhl2_related_disorder GRHL2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 GRHL2-related_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPSM2 gpsm2_related_disorder GPSM2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 GPSM2-related_disorder 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPR68 human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Amelogenesis imperfecta Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 4 4 1.0000 condition_record_support_limited 20 0 3 Amelogenesis_imperfecta 4 low_record_burden_interpretation_limited low_record_burden_gene GPR143 mondo_mondo_0700230_medgen_cn375905 GPR143-related foveal hypoplasia MONDO:MONDO:0700230,MedGen:CN375905 4 4 1.0000 condition_record_support_limited 20 0 3 GPR143-related_foveal_hypoplasia 112 compact_adjacent_exon_block_opportunity local_compact_architecture GPHN rdh12_related_disorder RDH12-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 RDH12-related_disorder 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPHN human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 4 4 1.0000 condition_record_support_limited 20 0 4 Cone-rod_dystrophy 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPC3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPATCH11 early_onset_and_severe_retinal_dystrophy_with_neurological_impairment_and_facial_dysmorphia Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia . 4 4 1.0000 condition_record_support_limited 20 0 0 Early_onset_and_severe_retinal_dystrophy_with_neurological_impairment_and_facial_dysmorphia 4 low_record_burden_interpretation_limited low_record_burden_gene GP1BA human_phenotype_ontology_hp_0040185_medgen_c2751260 Macrothrombocytopenia Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260 4 4 1.0000 condition_record_support_limited 20 0 2 Macrothrombocytopenia 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GOT2 mondo_mondo_0032880_medgen_c5231473_omim_618721 Developmental and epileptic encephalopathy, 82 MONDO:MONDO:0032880,MedGen:C5231473,OMIM:618721 4 4 1.0000 condition_record_support_limited 20 0 4 Developmental_and_epileptic_encephalopathy,_82 4 low_record_burden_interpretation_limited low_record_burden_gene GOT2 mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 4 4 1.0000 condition_record_support_limited 20 0 4 Developmental_and_epileptic_encephalopathy 4 low_record_burden_interpretation_limited low_record_burden_gene GOSR2 mondo_mondo_0013526_medgen_c5190805_omim_614018_orphanet_280620 Progressive myoclonic epilepsy type 6 MONDO:MONDO:0013526,MedGen:C5190805,OMIM:614018,Orphanet:280620 4 4 1.0000 condition_record_support_limited 20 0 3 Progressive_myoclonic_epilepsy_type_6 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GOSR2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNPTAB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 436 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 4 4 1.0000 condition_record_support_limited 20 0 4 Strabismus 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0010841_medgen_c4021219 Multifocal epileptiform discharges Human_Phenotype_Ontology:HP:0010841,MedGen:C4021219 4 4 1.0000 condition_record_support_limited 20 0 4 Multifocal_epileptiform_discharges 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0002509_medgen_c1838391 Limb hypertonia Human_Phenotype_Ontology:HP:0002509,MedGen:C1838391 4 4 1.0000 condition_record_support_limited 20 0 4 Limb_hypertonia 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0001434_human_phenotype_ontology_hp_0001510_human_phenotype_ontology_hp_0001512_human_phenotype_ontology_hp_0001514_human_phenotype_ontology_hp_0001517_human_phenotype_ontology_hp_0001532_human_phenotype_ontology_hp_0008847_human_phenotype_ontology_hp_0008870_human_phenotype_ontology_hp_0008886_human_phenotype_ontology_hp_0008893_human_phenotype_ontology_hp_0008926_medgen_c0456070 Growth delay Human_Phenotype_Ontology:HP:0001434,Human_Phenotype_Ontology:HP:0001510,Human_Phenotype_Ontology:HP:0001512,Human_Phenotype_Ontology:HP:0001514,Human_Phenotype_Ontology:HP:0001517,Human_Phenotype_Ontology:HP:0001532,Human_Phenotype_Ontology:HP:0008847,Human_Phenotype_Ontology:HP:0008870,Human_Phenotype_Ontology:HP:0008886,Human_Phenotype_Ontology:HP:0008893,Human_Phenotype_Ontology:HP:0008926,MedGen:C0456070 4 4 1.0000 condition_record_support_limited 20 0 4 Growth_delay 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 4 4 1.0000 condition_record_support_limited 20 0 4 Failure_to_thrive 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAT1 mondo_mondo_0014614_medgen_c4225345_omim_616389_orphanet_215 Congenital stationary night blindness 1G MONDO:MONDO:0014614,MedGen:C4225345,OMIM:616389,Orphanet:215 4 4 1.0000 condition_record_support_limited 20 0 3 Congenital_stationary_night_blindness_1G 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS albright_hereditary_osteodystrophy_pseudohypoparathyroidism_pseudopseudohypoparathyroidism_acrodysostosis_and_osteoma_cutis Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis . 4 4 1.0000 condition_record_support_limited 20 0 2 Albright_hereditary_osteodystrophy,_pseudohypoparathyroidism,_pseudopseudohypoparathyroidism,_acrodysostosis_and_osteoma_cutis 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAQ condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 4 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene GNAQ mondo_mondo_0008501_medgen_c0038505_omim_185300_orphanet_3205 Sturge-Weber syndrome MONDO:MONDO:0008501,MedGen:C0038505,OMIM:185300,Orphanet:3205 4 4 1.0000 condition_record_support_limited 20 0 3 Sturge-Weber_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene GNAQ mondo_mondo_0008094_medgen_c2931029_omim_163000_orphanet_624 Familial multiple nevi flammei MONDO:MONDO:0008094,MedGen:C2931029,OMIM:163000,Orphanet:624 4 4 1.0000 condition_record_support_limited 20 0 3 Familial_multiple_nevi_flammei 8 low_record_burden_interpretation_limited low_record_burden_gene GNAI3 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene GLUL glutamine_synthetase_stabilization_disorder Glutamine synthetase stabilization disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 Glutamine_synthetase_stabilization_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene GLUL mondo_mondo_0014133_medgen_c3809173_omim_615338_orphanet_293181_orphanet_352596 Developmental and epileptic encephalopathy, 16 MONDO:MONDO:0014133,MedGen:C3809173,OMIM:615338,Orphanet:293181,Orphanet:352596 4 4 1.0000 condition_record_support_limited 20 0 4 Developmental_and_epileptic_encephalopathy,_16 13 low_record_burden_interpretation_limited low_record_burden_gene GLS mondo_mondo_0032733_medgen_c5193080_omim_618412 Global developmental delay, progressive ataxia, and elevated glutamine MONDO:MONDO:0032733,MedGen:C5193080,OMIM:618412 4 4 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay,_progressive_ataxia,_and_elevated_glutamine 18 low_record_burden_interpretation_limited low_record_burden_gene GLRX5 mondo_mondo_0014803_medgen_c4225178_omim_616859_orphanet_401866 Spasticity-ataxia-gait anomalies syndrome MONDO:MONDO:0014803,MedGen:C4225178,OMIM:616859,Orphanet:401866 4 4 1.0000 condition_record_support_limited 20 0 1 Spasticity-ataxia-gait_anomalies_syndrome 9 low_record_burden_interpretation_limited low_record_burden_gene GLIS3 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene GLDC mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 481 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLA human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 4 4 1.0000 condition_record_support_limited 20 0 4 Hypertrophic_cardiomyopathy 1115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GK mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB6 mondo_mondo_0012975_medgen_c2675237_omim_612643_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 3B MONDO:MONDO:0012975,MedGen:C2675237,OMIM:612643,Orphanet:90635 4 4 1.0000 condition_record_support_limited 20 0 3 Autosomal_dominant_nonsyndromic_hearing_loss_3B 10 low_record_burden_interpretation_limited low_record_burden_gene GIGYF2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene GIGYF1 gigyf1_related_disorder GIGYF1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 0 GIGYF1-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene GH1 mondo_mondo_0009879_medgen_c1849779_omim_262650_orphanet_629 Short stature due to growth hormone qualitative anomaly MONDO:MONDO:0009879,MedGen:C1849779,OMIM:262650,Orphanet:629 4 4 1.0000 condition_record_support_limited 20 0 1 Short_stature_due_to_growth_hormone_qualitative_anomaly 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GFM1 gfm1_related_disorder GFM1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 GFM1-related_disorder 202 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GFER condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene GEMIN5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDF5 mondo_mondo_0014032_medgen_c3554446_omim_615072_orphanet_93388 Brachydactyly type A1C MONDO:MONDO:0014032,MedGen:C3554446,OMIM:615072,Orphanet:93388 4 4 1.0000 condition_record_support_limited 20 0 3 Brachydactyly_type_A1C 52 compact_adjacent_exon_block_opportunity local_compact_architecture GDAP1 gdap1_related_disorder GDAP1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 GDAP1-related_disorder 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCSH human_phenotype_ontology_hp_0008288_mondo_mondo_0011612_medgen_c0751748_omim_ps605899_orphanet_407 Glycine encephalopathy Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407 4 4 1.0000 condition_record_support_limited 20 0 2 Glycine_encephalopathy 9 low_record_burden_interpretation_limited low_record_burden_gene GCNA mondo_mondo_0024773_medgen_c5676882_omim_301077 Spermatogenic failure, X-linked, 4 MONDO:MONDO:0024773,MedGen:C5676882,OMIM:301077 4 4 1.0000 condition_record_support_limited 20 0 3 Spermatogenic_failure,_X-linked,_4 4 low_record_burden_interpretation_limited low_record_burden_gene GBF1 human_phenotype_ontology_hp_0007002_human_phenotype_ontology_hp_0007349_medgen_c2749625 Motor axonal neuropathy Human_Phenotype_Ontology:HP:0007002,Human_Phenotype_Ontology:HP:0007349,MedGen:C2749625 4 4 1.0000 condition_record_support_limited 20 0 4 Motor_axonal_neuropathy 13 low_record_burden_interpretation_limited low_record_burden_gene GBF1 mondo_mondo_0011675_medgen_c5561933_omim_606483_orphanet_100043 Charcot-Marie-Tooth Disease, axonal, type 2GG MONDO:MONDO:0011675,MedGen:C5561933,OMIM:606483,Orphanet:100043 4 4 1.0000 condition_record_support_limited 20 0 4 Charcot-Marie-Tooth_Disease,_axonal,_type_2GG 13 low_record_burden_interpretation_limited low_record_burden_gene GBF1 mondo_mondo_0012527_medgen_c1864567_omim_610623_orphanet_91492 Cataract 11 multiple types MONDO:MONDO:0012527,MedGen:C1864567,OMIM:610623,Orphanet:91492 4 4 1.0000 condition_record_support_limited 20 0 3 Cataract_11_multiple_types 13 low_record_burden_interpretation_limited low_record_burden_gene GATM condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATB mondo_mondo_0030007_medgen_c5394236_omim_618838 Combined oxidative phosphorylation deficiency 41 MONDO:MONDO:0030007,MedGen:C5394236,OMIM:618838 4 4 1.0000 condition_record_support_limited 20 0 2 Combined_oxidative_phosphorylation_deficiency_41 4 low_record_burden_interpretation_limited low_record_burden_gene GATAD2B human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA2 human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Acute myeloid leukemia Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 4 4 1.0000 condition_record_support_limited 20 0 3 Acute_myeloid_leukemia 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA1 human_phenotype_ontology_hp_0005534_mondo_mondo_0008040_medgen_c1834582_omim_159595_orphanet_420611 Transient myeloproliferative syndrome Human_Phenotype_Ontology:HP:0005534,MONDO:MONDO:0008040,MedGen:C1834582,OMIM:159595,Orphanet:420611 4 4 1.0000 condition_record_support_limited 20 0 0 Transient_myeloproliferative_syndrome 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GANAB polycystic_kidney_disease_3_with_polycystic_liver_disease POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE . 4 4 1.0000 condition_record_support_limited 20 0 3 POLYCYSTIC_KIDNEY_DISEASE_3_WITH_POLYCYSTIC_LIVER_DISEASE 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAN mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAMT gamt_related_disorder GAMT-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 GAMT-related_disorder 145 compact_adjacent_exon_block_opportunity local_compact_architecture GALC galc_related_disorder GALC-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 GALC-related_disorder 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAD1 mondo_mondo_0033613_medgen_c5436628_omim_619026_orphanet_210141_orphanet_641353 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MONDO:MONDO:0033613,MedGen:C5436628,OMIM:619026,Orphanet:210141,Orphanet:641353 4 4 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_progressive_spasticity_and_brain_white_matter_abnormalities 18 low_record_burden_interpretation_limited low_record_burden_gene GABRB2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRA5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene GABRA3 mondo_mondo_0859564_medgen_c5774178_omim_301091 Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features MONDO:MONDO:0859564,MedGen:C5774178,OMIM:301091 4 4 1.0000 condition_record_support_limited 20 0 1 Epilepsy,_X-linked_2,_with_or_without_impaired_intellectual_development_and_dysmorphic_features 4 low_record_burden_interpretation_limited low_record_burden_gene GABBR2 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 4 4 1.0000 condition_record_support_limited 20 0 1 Epileptic_encephalopathy 15 low_record_burden_interpretation_limited low_record_burden_gene GABBR1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability 7 low_record_burden_interpretation_limited low_record_burden_gene GABBR1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 4 4 1.0000 condition_record_support_limited 20 0 4 Global_developmental_delay 7 low_record_burden_interpretation_limited low_record_burden_gene GABBR1 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 4 4 1.0000 condition_record_support_limited 20 0 4 Delayed_speech_and_language_development 7 low_record_burden_interpretation_limited low_record_burden_gene G6PC1 mondo_mondo_0002413_medgen_c0017920_orphanet_364 Glycogen storage disease, type I MONDO:MONDO:0002413,MedGen:C0017920,Orphanet:364 4 4 1.0000 condition_record_support_limited 20 0 4 Glycogen_storage_disease,_type_I 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PC1 g6pc1_related_disorder G6PC1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 G6PC1-related_disorder 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FZR1 mondo_mondo_0859325_medgen_c5774263_omim_620145 Developmental and epileptic encephalopathy 109 MONDO:MONDO:0859325,MedGen:C5774263,OMIM:620145 4 4 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy_109 5 low_record_burden_interpretation_limited low_record_burden_gene FZD4 mondo_mondo_0019516_mesh_d000080345_medgen_c0339539_omim_ps133780_orphanet_891 Familial exudative vitreoretinopathy MONDO:MONDO:0019516,MeSH:D000080345,MedGen:C0339539,OMIM:PS133780,Orphanet:891 4 4 1.0000 condition_record_support_limited 20 0 3 Familial_exudative_vitreoretinopathy 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FZD2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene FTSJ1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 15 low_record_burden_interpretation_limited low_record_burden_gene FTH1 mondo_mondo_0007931_medgen_c2745945_omim_153700_orphanet_1243 Vitelliform macular dystrophy 2 MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700,Orphanet:1243 4 4 1.0000 condition_record_support_limited 20 0 4 Vitelliform_macular_dystrophy_2 11 low_record_burden_interpretation_limited low_record_burden_gene FTCD condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 4 not_provided 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FRRS1L human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 4 4 1.0000 condition_record_support_limited 20 0 4 Seizure 39 compact_adjacent_exon_block_opportunity local_compact_architecture FRRS1L human_phenotype_ontology_hp_0002448_medgen_c1838578 Progressive encephalopathy Human_Phenotype_Ontology:HP:0002448,MedGen:C1838578 4 4 1.0000 condition_record_support_limited 20 0 4 Progressive_encephalopathy 39 compact_adjacent_exon_block_opportunity local_compact_architecture FRRS1L human_phenotype_ontology_hp_0002072_human_phenotype_ontology_hp_0002397_mondo_mondo_0001595_medgen_c0008489_orphanet_1429 Chorea Human_Phenotype_Ontology:HP:0002072,Human_Phenotype_Ontology:HP:0002397,MONDO:MONDO:0001595,MedGen:C0008489,Orphanet:1429 4 4 1.0000 condition_record_support_limited 20 0 4 Chorea 39 compact_adjacent_exon_block_opportunity local_compact_architecture FRMD5 mondo_mondo_0859305_medgen_c5774241_omim_620094 Neurodevelopmental disorder with eye movement abnormalities and ataxia MONDO:MONDO:0859305,MedGen:C5774241,OMIM:620094 4 4 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_eye_movement_abnormalities_and_ataxia 6 low_record_burden_interpretation_limited low_record_burden_gene FREM1 frem1_related_disorder FREM1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 FREM1-related_disorder 71 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FOXP2 foxp2_related_disorder FOXP2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 FOXP2-related_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP1 intellectual_developmental_disorder_with_language_impairment_and_autistic_features INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES . 4 4 1.0000 condition_record_support_limited 20 0 4 INTELLECTUAL_DEVELOPMENTAL_DISORDER_WITH_LANGUAGE_IMPAIRMENT_AND_AUTISTIC_FEATURES 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXN1 human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 4 4 1.0000 condition_record_support_limited 20 0 3 Severe_combined_immunodeficiency_disease 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXL2 medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 4 4 1.0000 condition_record_support_limited 20 0 1 Genetic_non-acquired_premature_ovarian_failure 174 single_exon_hotspot_opportunity local_compact_architecture FOXI3 mondo_mondo_0958194_medgen_c5781610_omim_620444 Craniofacial microsomia 2 MONDO:MONDO:0958194,MedGen:C5781610,OMIM:620444 4 4 1.0000 condition_record_support_limited 20 0 3 Craniofacial_microsomia_2 8 low_record_burden_interpretation_limited low_record_burden_gene FOXI3 mondo_mondo_0015397_medgen_c0265240_omim_ps164210_orphanet_141132 Craniofacial microsomia MONDO:MONDO:0015397,MedGen:C0265240,OMIM:PS164210,Orphanet:141132 4 4 1.0000 condition_record_support_limited 20 0 2 Craniofacial_microsomia 8 low_record_burden_interpretation_limited low_record_burden_gene FOXE1 mondo_mondo_0009437_medgen_c1855794_omim_241850_orphanet_1226 Bamforth-Lazarus syndrome MONDO:MONDO:0009437,MedGen:C1855794,OMIM:241850,Orphanet:1226 4 4 1.0000 condition_record_support_limited 20 0 0 Bamforth-Lazarus_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene FOXC1 human_phenotype_ontology_hp_0007696_human_phenotype_ontology_hp_0007699_human_phenotype_ontology_hp_0007700_human_phenotype_ontology_hp_0008040_mondo_mondo_0019503_medgen_c1862839_omim_ps107250_orphanet_88632 Anterior segment dysgenesis Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632 4 4 1.0000 condition_record_support_limited 20 0 2 Anterior_segment_dysgenesis 150 single_exon_hotspot_opportunity local_compact_architecture FLVCR1 mondo_mondo_0976126_medgen_c5975578_omim_621060 Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia MONDO:MONDO:0976126,MedGen:C5975578,OMIM:621060 4 4 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_microcephaly,_absent_speech,_and_hypotonia 59 compact_adjacent_exon_block_opportunity local_compact_architecture FLT4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLNC human_phenotype_ontology_hp_0001723_mondo_mondo_0005201_mesh_d002313_medgen_c0007196_orphanet_217632 Restrictive cardiomyopathy Human_Phenotype_Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196,Orphanet:217632 4 4 1.0000 condition_record_support_limited 20 0 1 Restrictive_cardiomyopathy 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNB mondo_mondo_0007208_medgen_c0432201_omim_112310_orphanet_1263 Boomerang dysplasia MONDO:MONDO:0007208,MedGen:C0432201,OMIM:112310,Orphanet:1263 4 4 1.0000 condition_record_support_limited 20 0 2 Boomerang_dysplasia 153 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLG autosomal_dominant_and_autosomal_recessive_flg_related_disorders Autosomal dominant and autosomal recessive FLG-related disorders . 4 4 1.0000 condition_record_support_limited 20 0 3 Autosomal_dominant_and_autosomal_recessive_FLG-related_disorders 246 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FKRP mondo_mondo_0700066_medgen_cn305637 Myopathy caused by variation in FKRP MONDO:MONDO:0700066,MedGen:CN305637 4 4 1.0000 condition_record_support_limited 20 0 2 Myopathy_caused_by_variation_in_FKRP 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FIBP mondo_mondo_0014918_medgen_c4310715_omim_617107_orphanet_500095 Tall stature-intellectual disability-renal anomalies syndrome MONDO:MONDO:0014918,MedGen:C4310715,OMIM:617107,Orphanet:500095 4 4 1.0000 condition_record_support_limited 20 0 1 Tall_stature-intellectual_disability-renal_anomalies_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene FH fh_related_disorder FH-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 FH-related_disorder 482 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FGG human_phenotype_ontology_hp_0011900_medgen_c0553681 Hypofibrinogenemia Human_Phenotype_Ontology:HP:0011900,MedGen:C0553681 4 4 1.0000 condition_record_support_limited 20 0 3 Hypofibrinogenemia 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 4 4 1.0000 condition_record_support_limited 20 0 3 Short_stature 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 mondo_mondo_0859577_medgen_c5774286_omim_620192 Lacrimoauriculodentodigital syndrome 2 MONDO:MONDO:0859577,MedGen:C5774286,OMIM:620192 4 4 1.0000 condition_record_support_limited 20 0 4 Lacrimoauriculodentodigital_syndrome_2 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 mondo_mondo_0019685_medgen_c5681604_orphanet_93420 FGFR3-related chondrodysplasia MONDO:MONDO:0019685,MedGen:C5681604,Orphanet:93420 4 4 1.0000 condition_record_support_limited 20 0 4 FGFR3-related_chondrodysplasia 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 mondo_mondo_0100302_medgen_c5774323_omim_149730 LADD syndrome 1 MONDO:MONDO:0100302,MedGen:C5774323,OMIM:149730 4 4 1.0000 condition_record_support_limited 20 0 3 LADD_syndrome_1 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGF9 mondo_mondo_0013064_medgen_c2751826_omim_612961_orphanet_3237 Multiple synostoses syndrome 3 MONDO:MONDO:0013064,MedGen:C2751826,OMIM:612961,Orphanet:3237 4 4 1.0000 condition_record_support_limited 20 0 0 Multiple_synostoses_syndrome_3 5 low_record_burden_interpretation_limited low_record_burden_gene FGF3 fgf3_related_disorder FGF3-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 FGF3-related_disorder 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGF12 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene FGB mondo_mondo_0014452_medgen_c0272350_omim_616004_orphanet_335_orphanet_98881 Familial dysfibrinogenemia MONDO:MONDO:0014452,MedGen:C0272350,OMIM:616004,Orphanet:335,Orphanet:98881 4 4 1.0000 condition_record_support_limited 20 0 2 Familial_dysfibrinogenemia 17 low_record_burden_interpretation_limited low_record_burden_gene FBXW7 fbxw7_related_disorder FBXW7-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 FBXW7-related_disorder 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXO22 mondo_mondo_0976286_medgen_c6012717_omim_621184 Tayoun-Maawali syndrome MONDO:MONDO:0976286,MedGen:C6012717,OMIM:621184 4 4 1.0000 condition_record_support_limited 20 0 1 Tayoun-Maawali_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene FBXO11 fbxo11_related_disorder FBXO11-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 FBXO11-related_disorder 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL5 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL5 human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Polycystic kidney disease Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 4 4 1.0000 condition_record_support_limited 20 0 4 Polycystic_kidney_disease 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL5 mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 4 4 1.0000 condition_record_support_limited 20 0 3 Joubert_syndrome_and_related_disorders 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL5 human_phenotype_ontology_hp_0002084_human_phenotype_ontology_hp_0002736_human_phenotype_ontology_hp_0100664_medgen_c4551722 Encephalocele Human_Phenotype_Ontology:HP:0002084,Human_Phenotype_Ontology:HP:0002736,Human_Phenotype_Ontology:HP:0100664,MedGen:C4551722 4 4 1.0000 condition_record_support_limited 20 0 4 Encephalocele 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL5 mondo_mondo_0800103_medgen_c5435651_omim_216360_orphanet_1454 COACH syndrome 1 MONDO:MONDO:0800103,MedGen:C5435651,OMIM:216360,Orphanet:1454 4 4 1.0000 condition_record_support_limited 20 0 3 COACH_syndrome_1 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL3 mondo_mondo_0011651_medgen_c1853507_omim_606220 Intellectual disability, short stature, facial anomalies, and joint dislocations MONDO:MONDO:0011651,MedGen:C1853507,OMIM:606220 4 4 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_short_stature,_facial_anomalies,_and_joint_dislocations 4 low_record_burden_interpretation_limited low_record_burden_gene FBN2 mondo_mondo_0014501_medgen_c4015286_omim_616118 Macular degeneration, early-onset MONDO:MONDO:0014501,MedGen:C4015286,OMIM:616118 4 4 1.0000 condition_record_support_limited 20 0 2 Macular_degeneration,_early-onset 122 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0000098_human_phenotype_ontology_hp_0001527_human_phenotype_ontology_hp_0003515_human_phenotype_ontology_hp_0003516_medgen_c0241240 Tall stature Human_Phenotype_Ontology:HP:0000098,Human_Phenotype_Ontology:HP:0001527,Human_Phenotype_Ontology:HP:0003515,Human_Phenotype_Ontology:HP:0003516,MedGen:C0241240 4 4 1.0000 condition_record_support_limited 20 0 4 Tall_stature 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Myopia Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 4 4 1.0000 condition_record_support_limited 20 0 4 Myopia 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 medgen_c2746069 Familial ectopia lentis MedGen:C2746069 4 4 1.0000 condition_record_support_limited 20 0 4 Familial_ectopia_lentis 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0000665_human_phenotype_ontology_hp_0001083_human_phenotype_ontology_hp_0007637_human_phenotype_ontology_hp_0007882_human_phenotype_ontology_hp_0008016_medgen_c0013581 Ectopia lentis Human_Phenotype_Ontology:HP:0000665,Human_Phenotype_Ontology:HP:0001083,Human_Phenotype_Ontology:HP:0007637,Human_Phenotype_Ontology:HP:0007882,Human_Phenotype_Ontology:HP:0008016,MedGen:C0013581 4 4 1.0000 condition_record_support_limited 20 0 4 Ectopia_lentis 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FARSB mondo_mondo_0100215_medgen_c5436276_omim_613658_orphanet_178506 Rajab interstitial lung disease with brain calcifications 1 MONDO:MONDO:0100215,MedGen:C5436276,OMIM:613658,Orphanet:178506 4 4 1.0000 condition_record_support_limited 20 0 2 Rajab_interstitial_lung_disease_with_brain_calcifications_1 13 low_record_burden_interpretation_limited low_record_burden_gene FARSA mondo_mondo_0100220_medgen_c5436603_omim_619013 Rajab interstitial lung disease with brain calcifications 2 MONDO:MONDO:0100220,MedGen:C5436603,OMIM:619013 4 4 1.0000 condition_record_support_limited 20 0 0 Rajab_interstitial_lung_disease_with_brain_calcifications_2 4 low_record_burden_interpretation_limited low_record_burden_gene FARS2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCM mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 4 4 1.0000 condition_record_support_limited 20 0 4 Hereditary_cancer-predisposing_syndrome 201 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FANCI fanci_related_disorder FANCI-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 FANCI-related_disorder 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCC mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 4 4 1.0000 condition_record_support_limited 20 0 3 Malignant_tumor_of_breast 301 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAM20C fam20c_related_disorder FAM20C-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 FAM20C-related_disorder 27 compact_adjacent_exon_block_opportunity local_compact_architecture FAM111B mondo_mondo_0014310_medgen_c3810325_omim_615704_orphanet_221043 Hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:MONDO:0014310,MedGen:C3810325,OMIM:615704,Orphanet:221043 4 4 1.0000 condition_record_support_limited 20 0 2 Hereditary_sclerosing_poikiloderma_with_tendon_and_pulmonary_involvement 7 low_record_burden_interpretation_limited low_record_burden_gene FAM111A condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene FAH fah_related_disorder FAH-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 FAH-related_disorder 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAAP100 mondo_mondo_0979241_medgen_c6012745_omim_621258 Fanconi anemia, complementation group 10 MONDO:MONDO:0979241,MedGen:C6012745,OMIM:621258 4 4 1.0000 condition_record_support_limited 20 0 0 Fanconi_anemia,_complementation_group_10 4 low_record_burden_interpretation_limited low_record_burden_gene F5 f5_related_disorder F5-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 F5-related_disorder 109 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture F11 human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 4 4 1.0000 condition_record_support_limited 20 0 4 Abnormal_bleeding 216 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EZH2 ezh2_related_disorder EZH2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 EZH2-related_disorder 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EZH1 ezh1_neurodevelopmental_syndrome EZH1-neurodevelopmental syndrome . 4 4 1.0000 condition_record_support_limited 20 0 2 EZH1-neurodevelopmental_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene EXT2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 221 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXPH5 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene EXOC7 mondo_mondo_0033658_medgen_c5436732_omim_619072 Neurodevelopmental disorder with seizures and brain atrophy MONDO:MONDO:0033658,MedGen:C5436732,OMIM:619072 4 4 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_seizures_and_brain_atrophy 5 low_record_burden_interpretation_limited low_record_burden_gene EVC2 mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 Jeune thoracic dystrophy MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 4 4 1.0000 condition_record_support_limited 20 0 4 Jeune_thoracic_dystrophy 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EVC mondo_mondo_0009894_medgen_c0024507_omim_263520 Short-rib thoracic dysplasia 6 with or without polydactyly MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520 4 4 1.0000 condition_record_support_limited 20 0 4 Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly 320 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETFDH medgen_c4016438 Glutaric acidemia iic, late-onset MedGen:C4016438 4 4 1.0000 condition_record_support_limited 20 0 3 Glutaric_acidemia_iic,_late-onset 301 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ESR1 mondo_mondo_0014148_medgen_c3809250_omim_615363_orphanet_785 Estrogen resistance syndrome MONDO:MONDO:0014148,MedGen:C3809250,OMIM:615363,Orphanet:785 4 4 1.0000 condition_record_support_limited 20 0 1 Estrogen_resistance_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene ESAM condition_not_provided condition not provided . 4 4 1.0000 condition_record_support_limited 20 4 4 See_cases 7 low_record_burden_interpretation_limited low_record_burden_gene ERMARD mondo_mondo_0014240_medgen_c3809872_omim_615544_orphanet_2149 Periventricular nodular heterotopia 6 MONDO:MONDO:0014240,MedGen:C3809872,OMIM:615544,Orphanet:2149 4 4 1.0000 condition_record_support_limited 20 0 0 Periventricular_nodular_heterotopia_6 4 low_record_burden_interpretation_limited low_record_burden_gene ERLEC1 human_phenotype_ontology_hp_0000251_human_phenotype_ontology_hp_0000279_human_phenotype_ontology_hp_0000303_human_phenotype_ontology_hp_0000328_human_phenotype_ontology_hp_0002051_human_phenotype_ontology_hp_0004648_human_phenotype_ontology_hp_0004656_human_phenotype_ontology_hp_0008514_mondo_mondo_0008312_mesh_d008313_medgen_c0399526_omim_176700_orphanet_2964 Mandibular prognathia Human_Phenotype_Ontology:HP:0000251,Human_Phenotype_Ontology:HP:0000279,Human_Phenotype_Ontology:HP:0000303,Human_Phenotype_Ontology:HP:0000328,Human_Phenotype_Ontology:HP:0002051,Human_Phenotype_Ontology:HP:0004648,Human_Phenotype_Ontology:HP:0004656,Human_Phenotype_Ontology:HP:0008514,MONDO:MONDO:0008312,MeSH:D008313,MedGen:C0399526,OMIM:176700,Orphanet:2964 4 4 1.0000 condition_record_support_limited 20 0 0 Mandibular_prognathia 4 low_record_burden_interpretation_limited low_record_burden_gene ERI1 mondo_mondo_0958005_medgen_c5882736_omim_620662 Hoxha-Aliu syndrome MONDO:MONDO:0958005,MedGen:C5882736,OMIM:620662 4 4 1.0000 condition_record_support_limited 20 0 1 Hoxha-Aliu_syndrome 13 low_record_burden_interpretation_limited low_record_burden_gene ERF medgen_c1834120 Noonan-like syndrome MedGen:C1834120 4 4 1.0000 condition_record_support_limited 20 0 4 Noonan-like_syndrome 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC6 mondo_mondo_0100506_medgen_cn315928 Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:MONDO:0100506,MedGen:CN315928 4 4 1.0000 condition_record_support_limited 20 0 3 Cockayne_spectrum_with_or_without_cerebrooculofacioskeletal_syndrome 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC5 mondo_mondo_0800314_medgen_c1968561 Xeroderma pigmentosum group G/Cockayne syndrome MONDO:MONDO:0800314,MedGen:C1968561 4 4 1.0000 condition_record_support_limited 20 0 1 Xeroderma_pigmentosum_group_G/Cockayne_syndrome 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC2 mondo_mondo_0018053_medgen_c1955934_omim_ps601675_orphanet_33364 Trichothiodystrophy MONDO:MONDO:0018053,MedGen:C1955934,OMIM:PS601675,Orphanet:33364 4 4 1.0000 condition_record_support_limited 20 0 3 Trichothiodystrophy 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC2 mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 4 4 1.0000 condition_record_support_limited 20 0 2 Malignant_tumor_of_urinary_bladder 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERBB3 mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 4 4 1.0000 condition_record_support_limited 20 0 0 Malignant_tumor_of_urinary_bladder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPS8 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene EPM2A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 55 compact_adjacent_exon_block_opportunity local_compact_architecture EPCAM epcam_related_disorder EPCAM-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 EPCAM-related_disorder 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EP300 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 4 4 1.0000 condition_record_support_limited 20 0 2 Colorectal_cancer 264 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ENOSF1 mondo_mondo_0015780_medgen_c0265965_omim_ps127550_orphanet_1775 Dyskeratosis congenita MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775 4 4 1.0000 condition_record_support_limited 20 0 2 Dyskeratosis_congenita 4 low_record_burden_interpretation_limited low_record_burden_gene ENAM mondo_mondo_0008770_medgen_c2673923_omim_204650_orphanet_88661 Amelogenesis imperfecta type 1C MONDO:MONDO:0008770,MedGen:C2673923,OMIM:204650,Orphanet:88661 4 4 1.0000 condition_record_support_limited 20 0 2 Amelogenesis_imperfecta_type_1C 15 low_record_burden_interpretation_limited low_record_burden_gene EMX2 human_phenotype_ontology_hp_0010636_mondo_mondo_0010011_medgen_c0266484_omim_269160_orphanet_799 Schizencephaly Human_Phenotype_Ontology:HP:0010636,MONDO:MONDO:0010011,MedGen:C0266484,OMIM:269160,Orphanet:799 4 4 1.0000 condition_record_support_limited 20 0 0 Schizencephaly 6 low_record_burden_interpretation_limited low_record_burden_gene EML1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene EMILIN1 mondo_mondo_0971179_medgen_c5935641_omim_620908 Arterial tortuosity-bone fragility syndrome MONDO:MONDO:0971179,MedGen:C5935641,OMIM:620908 4 4 1.0000 condition_record_support_limited 20 0 4 Arterial_tortuosity-bone_fragility_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene EMD mondo_mondo_0016830_medgen_c0410189_omim_ps310300_orphanet_261 Emery-Dreifuss muscular dystrophy MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261 4 4 1.0000 condition_record_support_limited 20 0 4 Emery-Dreifuss_muscular_dystrophy 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EMD cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 4 4 1.0000 condition_record_support_limited 20 0 2 Cardiovascular_phenotype 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EMC10 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene ELAC2 mondo_mondo_0013872_medgen_c3539120_omim_614731_orphanet_1331 Prostate cancer, hereditary, 2 MONDO:MONDO:0013872,MedGen:C3539120,OMIM:614731,Orphanet:1331 4 4 1.0000 condition_record_support_limited 20 0 3 Prostate_cancer,_hereditary,_2 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELAC2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF4A2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene EIF3F mondo_mondo_0032662_medgen_c4749019_omim_618295 Intellectual developmental disorder, autosomal recessive 67 MONDO:MONDO:0032662,MedGen:C4749019,OMIM:618295 4 4 1.0000 condition_record_support_limited 20 0 1 Intellectual_developmental_disorder,_autosomal_recessive_67 4 low_record_burden_interpretation_limited low_record_burden_gene EIF2B5 mondo_mondo_0020507_medgen_c5779972_omim_603896_orphanet_99854 Leukoencephalopathy with vanishing white matter 1 MONDO:MONDO:0020507,MedGen:C5779972,OMIM:603896,Orphanet:99854 4 4 1.0000 condition_record_support_limited 20 0 4 Leukoencephalopathy_with_vanishing_white_matter_1 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2B5 eif2b5_related_disorder EIF2B5-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 EIF2B5-related_disorder 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2B2 eif2b2_related_disorder EIF2B2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 EIF2B2-related_disorder 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EGFR mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 4 4 1.0000 condition_record_support_limited 20 0 0 Malignant_tumor_of_urinary_bladder 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFCAB10 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene EEF2KMT mondo_mondo_0012052_medgen_c2931005_omim_608540_orphanet_79327 ALG1-congenital disorder of glycosylation MONDO:MONDO:0012052,MedGen:C2931005,OMIM:608540,Orphanet:79327 4 4 1.0000 condition_record_support_limited 20 0 2 ALG1-congenital_disorder_of_glycosylation 4 low_record_burden_interpretation_limited low_record_burden_gene EEF2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided|not_specified 7 low_record_burden_interpretation_limited low_record_burden_gene EEF1D mondo_mondo_0976263_medgen_c6012708_omim_621150 Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language MONDO:MONDO:0976263,MedGen:C6012708,OMIM:621150 4 4 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_thin_corpus_callosum,_hypotonia,_and_absent_language 9 low_record_burden_interpretation_limited low_record_burden_gene EEF1A2 eef1a2_related_disorder EEF1A2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 EEF1A2-related_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EDAR medgen_c3551587 Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant MedGen:C3551587 4 4 1.0000 condition_record_support_limited 20 0 3 Ectodermal_dysplasia_10a,_hypohidrotic/hair/tooth_type,_autosomal_dominant 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ECHS1 echs1_related_disorder ECHS1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 ECHS1-related_disorder 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNLT2B mondo_mondo_0054565_medgen_c4479416_omim_617405 Short-rib thoracic dysplasia 17 with or without polydactyly MONDO:MONDO:0054565,MedGen:C4479416,OMIM:617405 4 4 1.0000 condition_record_support_limited 20 0 2 Short-rib_thoracic_dysplasia_17_with_or_without_polydactyly 8 low_record_burden_interpretation_limited low_record_burden_gene DYNC2H1 medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 4 4 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_retinitis_pigmentosa 566 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC1I2 mondo_mondo_0032779_medgen_c5193123_omim_618492_orphanet_699844 Neurodevelopmental disorder with microcephaly and structural brain anomalies MONDO:MONDO:0032779,MedGen:C5193123,OMIM:618492,Orphanet:699844 4 4 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_microcephaly_and_structural_brain_anomalies 5 low_record_burden_interpretation_limited low_record_burden_gene DYNC1H1 mondo_mondo_0015362_medgen_c5548212_omim_ps182960_orphanet_140465 Neuronopathy, distal hereditary motor, autosomal dominant MONDO:MONDO:0015362,MedGen:C5548212,OMIM:PS182960,Orphanet:140465 4 4 1.0000 condition_record_support_limited 20 0 4 Neuronopathy,_distal_hereditary_motor,_autosomal_dominant 176 large_gene_or_donor_burden_stress_case donor_burden_stress DVL3 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 1 See_cases|not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene DVL2 mondo_mondo_0008723_medgen_c3887523_omim_201475_orphanet_26793 Very long chain acyl-CoA dehydrogenase deficiency MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475,Orphanet:26793 4 4 1.0000 condition_record_support_limited 20 0 1 Very_long_chain_acyl-CoA_dehydrogenase_deficiency 4 low_record_burden_interpretation_limited low_record_burden_gene DSPP mondo_mondo_0007442_medgen_c0399378_omim_125500_orphanet_166265 Dentinogenesis imperfecta type 3 MONDO:MONDO:0007442,MedGen:C0399378,OMIM:125500,Orphanet:166265 4 4 1.0000 condition_record_support_limited 20 0 3 Dentinogenesis_imperfecta_type_3 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSG2 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 4 4 1.0000 condition_record_support_limited 20 0 4 Cardiomyopathy 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DRG1 mondo_mondo_0957990_medgen_c5882727_omim_620641 Tan-Almurshedi syndrome MONDO:MONDO:0957990,MedGen:C5882727,OMIM:620641 4 4 1.0000 condition_record_support_limited 20 0 0 Tan-Almurshedi_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene DPF2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene DONSON mondo_mondo_0016817_medgen_c1868684_omim_ps224690_orphanet_2554 Meier-Gorlin syndrome MONDO:MONDO:0016817,MedGen:C1868684,OMIM:PS224690,Orphanet:2554 4 4 1.0000 condition_record_support_limited 20 0 2 Meier-Gorlin_syndrome 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DONSON mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOHH dohh_related_neurodevelopmental_disorder DOHH related neurodevelopmental disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 DOHH_related_neurodevelopmental_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene DOCK3 mondo_mondo_0032661_medgen_c4749014_omim_618292 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:MONDO:0032661,MedGen:C4749014,OMIM:618292 4 4 1.0000 condition_record_support_limited 20 0 3 Neurodevelopmental_disorder_with_impaired_intellectual_development,_hypotonia,_and_ataxia 11 low_record_burden_interpretation_limited low_record_burden_gene DOCK3 dock3_related_disorder DOCK3-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 0 DOCK3-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene DOCK2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 34 large_gene_or_donor_burden_stress_case donor_burden_stress DOCK11 inborn_error_of_hematopoiesis_and_immunity_with_systemic_inflammation_and_normocytic_anemia Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia . 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_error_of_hematopoiesis_and_immunity_with_systemic_inflammation_and_normocytic_anemia 14 low_record_burden_interpretation_limited low_record_burden_gene DNMT3A mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 4 4 1.0000 condition_record_support_limited 20 0 3 Autism_spectrum_disorder 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 4 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene DNMBP mondo_mondo_0032735_medgen_c5193082_omim_618415 Cataract 48 MONDO:MONDO:0032735,MedGen:C5193082,OMIM:618415 4 4 1.0000 condition_record_support_limited 20 0 0 Cataract_48 5 low_record_burden_interpretation_limited low_record_burden_gene DNAJC5 mondo_mondo_0008083_medgen_c1834207_omim_162350_orphanet_228343_orphanet_79262 Ceroid lipofuscinosis, neuronal, 4 (Kufs type) MONDO:MONDO:0008083,MedGen:C1834207,OMIM:162350,Orphanet:228343,Orphanet:79262 4 4 1.0000 condition_record_support_limited 20 0 2 Ceroid_lipofuscinosis,_neuronal,_4_(Kufs_type) 4 low_record_burden_interpretation_limited low_record_burden_gene DNAJC21 medgen_c2986691 Inherited bone marrow failure syndrome MedGen:C2986691 4 4 1.0000 condition_record_support_limited 20 0 4 Inherited_bone_marrow_failure_syndrome 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJB4 mondo_mondo_0957224_medgen_c5830424_omim_620326 Congenital myopathy 21 with early respiratory failure MONDO:MONDO:0957224,MedGen:C5830424,OMIM:620326 4 4 1.0000 condition_record_support_limited 20 0 0 Congenital_myopathy_21_with_early_respiratory_failure 4 low_record_burden_interpretation_limited low_record_burden_gene DNAJB13 mondo_mondo_0014909_medgen_c4310722_omim_617091_orphanet_244 Primary ciliary dyskinesia 34 MONDO:MONDO:0014909,MedGen:C4310722,OMIM:617091,Orphanet:244 4 4 1.0000 condition_record_support_limited 20 0 0 Primary_ciliary_dyskinesia_34 13 low_record_burden_interpretation_limited low_record_burden_gene DNAH8 dnah8_related_disorder DNAH8-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 DNAH8-related_disorder 156 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH3 mondo_mondo_0054615_medgen_c4539783_omim_617576 Spermatogenic failure 18 MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576 4 4 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_18 4 low_record_burden_interpretation_limited low_record_burden_gene DNAH11 respiratory_ciliopathies_including_non_cf_bronchiectasis Respiratory ciliopathies including non-CF bronchiectasis . 4 4 1.0000 condition_record_support_limited 20 0 3 Respiratory_ciliopathies_including_non-CF_bronchiectasis 574 large_gene_or_donor_burden_stress_case donor_burden_stress DNAAF3 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF2 dnaaf2_related_disorder DNAAF2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 DNAAF2-related_disorder 50 compact_adjacent_exon_block_opportunity local_compact_architecture DNAAF11 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF1 dnaaf1_related_disorder DNAAF1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 DNAAF1-related_disorder 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNA2 mondo_mondo_0014062_medgen_c3554599_omim_615156_orphanet_352470 Mitochondrial DNA deletion syndrome with progressive myopathy MONDO:MONDO:0014062,MedGen:C3554599,OMIM:615156,Orphanet:352470 4 4 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_DNA_deletion_syndrome_with_progressive_myopathy 17 low_record_burden_interpretation_limited low_record_burden_gene DMD human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 4 4 1.0000 condition_record_support_limited 20 0 1 Myopathy 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DLX5 mondo_mondo_0008464_medgen_c2931019_omim_183600_orphanet_2440 Split hand-foot malformation 1 MONDO:MONDO:0008464,MedGen:C2931019,OMIM:183600,Orphanet:2440 4 4 1.0000 condition_record_support_limited 20 0 2 Split_hand-foot_malformation_1 9 low_record_burden_interpretation_limited low_record_burden_gene DLL1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DISP1 condition_not_provided condition not provided .|MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 See_cases|not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene DIS3L2 dis3l2_related_disorder DIS3L2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 DIS3L2-related_disorder 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DICER1 dicer1_related_disorder DICER1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 DICER1-related_disorder 833 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control DHX9 mondo_mondo_0975838_medgen_c5975482_omim_620988 Intellectual developmental disorder, autosomal dominant 75 MONDO:MONDO:0975838,MedGen:C5975482,OMIM:620988 4 4 1.0000 condition_record_support_limited 20 0 2 Intellectual_developmental_disorder,_autosomal_dominant_75 17 low_record_burden_interpretation_limited low_record_burden_gene DHX37 neurodevelopmental_disorders Neurodevelopmental disorders . 4 4 1.0000 condition_record_support_limited 20 0 4 Neurodevelopmental_disorders 15 low_record_burden_interpretation_limited low_record_burden_gene DHX37 mondo_mondo_0032888_medgen_c5231481_omim_618731 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies MONDO:MONDO:0032888,MedGen:C5231481,OMIM:618731 4 4 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_brain_anomalies_and_with_or_without_vertebral_or_cardiac_anomalies 15 low_record_burden_interpretation_limited low_record_burden_gene DHX37 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 4 4 1.0000 condition_record_support_limited 20 0 4 Neurodevelopmental_delay 15 low_record_burden_interpretation_limited low_record_burden_gene DHX37 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability 15 low_record_burden_interpretation_limited low_record_burden_gene DHX16 neurodevelopmental_disorders Neurodevelopmental disorders . 4 4 1.0000 condition_record_support_limited 20 0 4 Neurodevelopmental_disorders 7 low_record_burden_interpretation_limited low_record_burden_gene DHX16 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 4 4 1.0000 condition_record_support_limited 20 0 3 Neurodevelopmental_delay 7 low_record_burden_interpretation_limited low_record_burden_gene DHTKD1 dhtkd1_related_disorder DHTKD1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 DHTKD1-related_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHFR mondo_mondo_0013456_medgen_c3151205_omim_613839_orphanet_319651 Constitutional megaloblastic anemia with severe neurologic disease MONDO:MONDO:0013456,MedGen:C3151205,OMIM:613839,Orphanet:319651 4 4 1.0000 condition_record_support_limited 20 0 0 Constitutional_megaloblastic_anemia_with_severe_neurologic_disease 43 compact_adjacent_exon_block_opportunity local_compact_architecture DGKE mondo_mondo_0100590_medgen_c3808620 Hemolytic uremic syndrome, atypical, susceptibility to, 7 MONDO:MONDO:0100590,MedGen:C3808620 4 4 1.0000 condition_record_support_limited 20 0 4 Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_7 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DES efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 4 4 1.0000 condition_record_support_limited 20 0 4 Primary_dilated_cardiomyopathy 123 compact_adjacent_exon_block_opportunity local_compact_architecture DEPDC5 mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 4 4 1.0000 condition_record_support_limited 20 0 2 Epilepsy 382 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX59 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene DDX41 human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Acute myeloid leukemia Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 4 4 1.0000 condition_record_support_limited 20 0 3 Acute_myeloid_leukemia 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX3Y human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 4 4 1.0000 condition_record_support_limited 20 0 0 Non-obstructive_azoospermia 4 low_record_burden_interpretation_limited low_record_burden_gene DDX3X ebv_positive_nodal_t_and_nk_cell_lymphoma EBV-positive nodal T- and NK-cell lymphoma . 4 4 1.0000 condition_record_support_limited 20 0 3 EBV-positive_nodal_T-_and_NK-cell_lymphoma 366 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDHD1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 30 compact_adjacent_exon_block_opportunity local_compact_architecture DDC mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDB1 mondo_mondo_0859169_medgen_c5543635_omim_619426 White-Kernohan syndrome MONDO:MONDO:0859169,MedGen:C5543635,OMIM:619426 4 4 1.0000 condition_record_support_limited 20 0 1 White-Kernohan_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene DCC mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DAP3 condition_not_provided condition not provided .|MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 See_cases|not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene CYP26B1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene CYP24A1 cyp24a1_related_disorder CYP24A1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 CYP24A1-related_disorder 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP1B1 human_phenotype_ontology_hp_0007696_human_phenotype_ontology_hp_0007699_human_phenotype_ontology_hp_0007700_human_phenotype_ontology_hp_0008040_mondo_mondo_0019503_medgen_c1862839_omim_ps107250_orphanet_88632 Anterior segment dysgenesis Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632 4 4 1.0000 condition_record_support_limited 20 0 3 Anterior_segment_dysgenesis 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP11B1 differences_in_sex_development Differences in sex development . 4 4 1.0000 condition_record_support_limited 20 0 1 Differences_in_sex_development 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYLD mondo_mondo_0030872_medgen_c5436881_omim_619132 Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 MONDO:MONDO:0030872,MedGen:C5436881,OMIM:619132 4 4 1.0000 condition_record_support_limited 20 0 4 Frontotemporal_dementia_and/or_amyotrophic_lateral_sclerosis_8 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYLD mondo_mondo_0011114_medgen_c1275122_orphanet_79493_orphanet_867 Familial multiple trichoepitheliomata MONDO:MONDO:0011114,MedGen:C1275122,Orphanet:79493,Orphanet:867 4 4 1.0000 condition_record_support_limited 20 0 2 Familial_multiple_trichoepitheliomata 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYBC1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene CXCR2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene CTU2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene CTR9 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 17 low_record_burden_interpretation_limited low_record_burden_gene CTNND1 ctnnd1_related_disorder CTNND1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 0 CTNND1-related_disorder 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Ovarian neoplasm Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 4 4 1.0000 condition_record_support_limited 20 0 4 Ovarian_neoplasm 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTH human_phenotype_ontology_hp_0003153_mondo_mondo_0009058_medgen_c0220993_omim_219500_orphanet_212 Cystathioninuria Human_Phenotype_Ontology:HP:0003153,MONDO:MONDO:0009058,MedGen:C0220993,OMIM:219500,Orphanet:212 4 4 1.0000 condition_record_support_limited 20 0 1 Cystathioninuria 4 low_record_burden_interpretation_limited low_record_burden_gene CTCF ctcf_related_disorder CTCF-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 CTCF-related_disorder 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 136 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTC1 mondo_mondo_0012815_medgen_c2677299_omim_ps612199_orphanet_313838 Coats plus syndrome MONDO:MONDO:0012815,MedGen:C2677299,OMIM:PS612199,Orphanet:313838 4 4 1.0000 condition_record_support_limited 20 0 4 Coats_plus_syndrome 136 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSTB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 20 compact_adjacent_exon_block_opportunity local_compact_architecture CSRP3 efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 4 4 1.0000 condition_record_support_limited 20 0 0 Primary_dilated_cardiomyopathy 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSRP3 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 4 4 1.0000 condition_record_support_limited 20 0 4 Cardiovascular_phenotype 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSPP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B csnk2b_related_disorder CSNK2B-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 CSNK2B-related_disorder 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSF1R mondo_mondo_0100632_medgen_cn379780 CSF1R-related disorder MONDO:MONDO:0100632,MedGen:CN379780 4 4 1.0000 condition_record_support_limited 20 0 4 CSF1R-related_disorder 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRYGS human_phenotype_ontology_hp_0010922_mondo_mondo_0007284_medgen_c0524524_omim_116100_orphanet_91492 Cataract 20 multiple types Human_Phenotype_Ontology:HP:0010922,MONDO:MONDO:0007284,MedGen:C0524524,OMIM:116100,Orphanet:91492 4 4 1.0000 condition_record_support_limited 20 0 1 Cataract_20_multiple_types 7 low_record_burden_interpretation_limited low_record_burden_gene CRYGD crygd_related_disorder CRYGD-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 CRYGD-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene CRYGC human_phenotype_ontology_hp_0010698_medgen_c1852438 Nuclear pulverulent cataract Human_Phenotype_Ontology:HP:0010698,MedGen:C1852438 4 4 1.0000 condition_record_support_limited 20 0 1 Nuclear_pulverulent_cataract 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRYBB3 mondo_mondo_0012336_medgen_c1857853_omim_609741_orphanet_91492 Cataract 22 multiple types MONDO:MONDO:0012336,MedGen:C1857853,OMIM:609741,Orphanet:91492 4 4 1.0000 condition_record_support_limited 20 0 1 Cataract_22_multiple_types 6 low_record_burden_interpretation_limited low_record_burden_gene CRYBB2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 4 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene CRYBB1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene CRYBA4 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 20 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture CRYBA1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene CRYAB mondo_mondo_0012130_medgen_c1837317_orphanet_280553_orphanet_399058 Myofibrillar myopathy 2 MONDO:MONDO:0012130,MedGen:C1837317,Orphanet:280553,Orphanet:399058 4 4 1.0000 condition_record_support_limited 20 0 1 Myofibrillar_myopathy_2 18 low_record_burden_interpretation_limited low_record_burden_gene CRYAA human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 4 4 1.0000 condition_record_support_limited 20 0 3 Developmental_cataract 11 low_record_burden_interpretation_limited low_record_burden_gene CRTAP mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 Osteogenesis imperfecta MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 4 4 1.0000 condition_record_support_limited 20 0 3 Osteogenesis_imperfecta 66 compact_adjacent_exon_block_opportunity local_compact_architecture CRLF1 mondo_mondo_0015526_medgen_c1832409_omim_ps272430_orphanet_157820 Cold-induced sweating syndrome MONDO:MONDO:0015526,MedGen:C1832409,OMIM:PS272430,Orphanet:157820 4 4 1.0000 condition_record_support_limited 20 0 1 Cold-induced_sweating_syndrome 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRIPT condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene CRB1 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 4 4 1.0000 condition_record_support_limited 20 0 4 Cone-rod_dystrophy 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRADD mondo_mondo_0013785_medgen_c3281044_omim_614499_orphanet_88616 Intellectual disability, autosomal recessive 34 MONDO:MONDO:0013785,MedGen:C3281044,OMIM:614499,Orphanet:88616 4 4 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability,_autosomal_recessive_34 8 low_record_burden_interpretation_limited low_record_burden_gene CPT2 human_phenotype_ontology_hp_0008942_medgen_c3807306 Acute rhabdomyolysis Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 4 4 1.0000 condition_record_support_limited 20 0 3 Acute_rhabdomyolysis 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPLANE1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 4 4 1.0000 condition_record_support_limited 20 0 4 Global_developmental_delay 343 large_gene_or_donor_burden_stress_case donor_burden_stress COX20 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene COX15 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 4 4 1.0000 condition_record_support_limited 20 0 3 Leigh_syndrome 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COX11 mondo_mondo_0859520_medgen_c5830322_omim_620275 Mitochondrial complex IV deficiency, nuclear type 23 MONDO:MONDO:0859520,MedGen:C5830322,OMIM:620275 4 4 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_IV_deficiency,_nuclear_type_23 4 low_record_burden_interpretation_limited low_record_burden_gene COQ7 mondo_mondo_0957874_medgen_c5882672_omim_620402 Neuronopathy, distal hereditary motor, autosomal recessive 9 MONDO:MONDO:0957874,MedGen:C5882672,OMIM:620402 4 4 1.0000 condition_record_support_limited 20 0 0 Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_9 12 low_record_burden_interpretation_limited low_record_burden_gene COLEC11 mondo_mondo_0009927_medgen_c0796279_omim_265050_orphanet_293843 3MC syndrome 2 MONDO:MONDO:0009927,MedGen:C0796279,OMIM:265050,Orphanet:293843 4 4 1.0000 condition_record_support_limited 20 0 1 3MC_syndrome_2 6 low_record_burden_interpretation_limited low_record_burden_gene COL9A2 col9a2_related_disorder COL9A2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 COL9A2-related_disorder 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL7A1 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 4 4 1.0000 condition_record_support_limited 20 0 4 Short_stature 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 human_phenotype_ontology_hp_0008382_human_phenotype_ontology_hp_0008397_human_phenotype_ontology_hp_0008404_human_phenotype_ontology_hp_0008408_medgen_c0221260 Nail dystrophy Human_Phenotype_Ontology:HP:0008382,Human_Phenotype_Ontology:HP:0008397,Human_Phenotype_Ontology:HP:0008404,Human_Phenotype_Ontology:HP:0008408,MedGen:C0221260 4 4 1.0000 condition_record_support_limited 20 0 4 Nail_dystrophy 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 medgen_c2675780 Epidermolysis bullosa pruriginosa, autosomal dominant MedGen:C2675780 4 4 1.0000 condition_record_support_limited 20 0 4 Epidermolysis_bullosa_pruriginosa,_autosomal_dominant 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 medgen_c2673611 Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant MedGen:C2673611 4 4 1.0000 condition_record_support_limited 20 0 4 Epidermolysis_bullosa_dystrophica,_autosomal_recessive,_localisata_variant 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL6A3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL6A3 mondo_mondo_0100225_medgen_cn117976 Collagen 6-related myopathy MONDO:MONDO:0100225,MedGen:CN117976 4 4 1.0000 condition_record_support_limited 20 0 3 Collagen_6-related_myopathy 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL6A2 col6a2_related_disorder COL6A2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 COL6A2-related_disorder 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A2 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 4 4 1.0000 condition_record_support_limited 20 0 3 Abnormality_of_the_musculature 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 194 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A1 mondo_mondo_0100225_medgen_cn117976 Collagen 6-related myopathy MONDO:MONDO:0100225,MedGen:CN117976 4 4 1.0000 condition_record_support_limited 20 0 4 Collagen_6-related_myopathy 194 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A5 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 4 4 1.0000 condition_record_support_limited 20 0 2 Nephrotic_syndrome 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A4 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 4 4 1.0000 condition_record_support_limited 20 0 2 Nephrotic_syndrome 860 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL2A1 mondo_mondo_0008479_medgen_c0432221_omim_184255_orphanet_93315 Spondylometaphyseal dysplasia - Sutcliffe type MONDO:MONDO:0008479,MedGen:C0432221,OMIM:184255,Orphanet:93315 4 4 1.0000 condition_record_support_limited 20 0 4 Spondylometaphyseal_dysplasia_-_Sutcliffe_type 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 mondo_mondo_0019669_medgen_c0542428_orphanet_93297 Hypochondrogenesis MONDO:MONDO:0019669,MedGen:C0542428,Orphanet:93297 4 4 1.0000 condition_record_support_limited 20 0 1 Hypochondrogenesis 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A2 mondo_mondo_0008159_medgen_c0029458 Postmenopausal osteoporosis MONDO:MONDO:0008159,MedGen:C0029458 4 4 1.0000 condition_record_support_limited 20 0 3 Postmenopausal_osteoporosis 722 large_gene_or_donor_burden_stress_case donor_burden_stress COL18A1 col18a1_related_disorder COL18A1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 COL18A1-related_disorder 214 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COG6 cog6_related_disorder COG6-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 COG6-related_disorder 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COASY mondo_mondo_0018307_medgen_c2931845_omim_ps234200_orphanet_385 Neurodegeneration with brain iron accumulation MONDO:MONDO:0018307,MedGen:C2931845,OMIM:PS234200,Orphanet:385 4 4 1.0000 condition_record_support_limited 20 0 2 Neurodegeneration_with_brain_iron_accumulation 30 compact_adjacent_exon_block_opportunity local_compact_architecture CNTN2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNOT9 cnot9_associated_neurodevelopmental_disorder CNOT9-associated neurodevelopmental disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 CNOT9-associated_neurodevelopmental_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene CNOT1 cnot1_related_disorder CNOT1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 0 CNOT1-related_disorder 45 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CLXN mondo_mondo_0957991_medgen_c5882728_omim_620642 Ciliary dyskinesia, primary, 53 MONDO:MONDO:0957991,MedGen:C5882728,OMIM:620642 4 4 1.0000 condition_record_support_limited 20 0 0 Ciliary_dyskinesia,_primary,_53 4 low_record_burden_interpretation_limited low_record_burden_gene CLRN1 mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 Neuronal ceroid lipofuscinosis MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 4 4 1.0000 condition_record_support_limited 20 0 4 Neuronal_ceroid_lipofuscinosis 97 compact_adjacent_exon_block_opportunity local_compact_architecture CLP1 mondo_mondo_0014349_medgen_c5190575_omim_615803_orphanet_411493 Pontocerebellar hypoplasia type 10 MONDO:MONDO:0014349,MedGen:C5190575,OMIM:615803,Orphanet:411493 4 4 1.0000 condition_record_support_limited 20 0 1 Pontocerebellar_hypoplasia_type_10 4 low_record_burden_interpretation_limited low_record_burden_gene CLN3 medgen_c4017059 CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED MedGen:C4017059 4 4 1.0000 condition_record_support_limited 20 0 3 CEROID_LIPOFUSCINOSIS,_NEURONAL,_3,_PROTRACTED 220 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCNKA mondo_mondo_0000909_medgen_c4310805_omim_613090_orphanet_112 Bartter disease type 4B MONDO:MONDO:0000909,MedGen:C4310805,OMIM:613090,Orphanet:112 4 4 1.0000 condition_record_support_limited 20 0 0 Bartter_disease_type_4B 5 low_record_burden_interpretation_limited low_record_burden_gene CLCN7 mondo_mondo_0032805_medgen_c5203300_omim_618541 Hypopigmentation, organomegaly, and delayed myelination and development MONDO:MONDO:0032805,MedGen:C5203300,OMIM:618541 4 4 1.0000 condition_record_support_limited 20 0 4 Hypopigmentation,_organomegaly,_and_delayed_myelination_and_development 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN7 clcn7_related_disorder CLCN7-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 CLCN7-related_disorder 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCF1 mondo_mondo_0012467_medgen_c1853198_omim_610313_orphanet_157820 Cold-induced sweating syndrome 2 MONDO:MONDO:0012467,MedGen:C1853198,OMIM:610313,Orphanet:157820 4 4 1.0000 condition_record_support_limited 20 0 0 Cold-induced_sweating_syndrome_2 4 low_record_burden_interpretation_limited low_record_burden_gene CIZ1 mondo_mondo_0014598_medgen_c4225357_omim_616346_orphanet_2382 Developmental and epileptic encephalopathy, 31A MONDO:MONDO:0014598,MedGen:C4225357,OMIM:616346,Orphanet:2382 4 4 1.0000 condition_record_support_limited 20 0 3 Developmental_and_epileptic_encephalopathy,_31A 6 low_record_burden_interpretation_limited low_record_burden_gene CIT mondo_mondo_0016660_medgen_c3711387_omim_ps251200_orphanet_2512 Autosomal recessive primary microcephaly MONDO:MONDO:0016660,MedGen:C3711387,OMIM:PS251200,Orphanet:2512 4 4 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_primary_microcephaly 25 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CIB1 mondo_mondo_0032644_medgen_c4748876_omim_618267 Epidermodysplasia verruciformis, susceptibility to, 3 MONDO:MONDO:0032644,MedGen:C4748876,OMIM:618267 4 4 1.0000 condition_record_support_limited 20 0 2 Epidermodysplasia_verruciformis,_susceptibility_to,_3 15 low_record_burden_interpretation_limited low_record_burden_gene CHUK condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene CHST6 condition_not_provided condition not provided .|MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 See_cases|not_provided 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRND mondo_mondo_0014585_medgen_c4225370_omim_616323_orphanet_590 Congenital myasthenic syndrome 3C MONDO:MONDO:0014585,MedGen:C4225370,OMIM:616323,Orphanet:590 4 4 1.0000 condition_record_support_limited 20 0 3 Congenital_myasthenic_syndrome_3C 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRND mondo_mondo_0014583_medgen_c4225372_omim_616321_orphanet_590 Congenital myasthenic syndrome 3A MONDO:MONDO:0014583,MedGen:C4225372,OMIM:616321,Orphanet:590 4 4 1.0000 condition_record_support_limited 20 0 4 Congenital_myasthenic_syndrome_3A 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNB1 mondo_mondo_0014582_medgen_c4225373_omim_616314_orphanet_590 Congenital myasthenic syndrome 2C MONDO:MONDO:0014582,MedGen:C4225373,OMIM:616314,Orphanet:590 4 4 1.0000 condition_record_support_limited 20 0 3 Congenital_myasthenic_syndrome_2C 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNA4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene CHRNA4 mondo_mondo_0020300_medgen_c3696898_orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy MONDO:MONDO:0020300,MedGen:C3696898,Orphanet:98784 4 4 1.0000 condition_record_support_limited 20 0 3 Autosomal_dominant_nocturnal_frontal_lobe_epilepsy 8 low_record_burden_interpretation_limited low_record_burden_gene CHRNA3 human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Amyotrophic lateral sclerosis Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 4 4 1.0000 condition_record_support_limited 20 0 0 Amyotrophic_lateral_sclerosis 16 low_record_burden_interpretation_limited low_record_burden_gene CHRDL1 mondo_mondo_0010649_medgen_c4518341_omim_309300_orphanet_91489 Isolated congenital megalocornea MONDO:MONDO:0010649,MedGen:C4518341,OMIM:309300,Orphanet:91489 4 4 1.0000 condition_record_support_limited 20 0 0 Isolated_congenital_megalocornea 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHMP2B condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene CHKA human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 4 4 1.0000 condition_record_support_limited 20 0 4 Severe_intellectual_disability 5 low_record_burden_interpretation_limited low_record_burden_gene CHKA human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 4 4 1.0000 condition_record_support_limited 20 0 4 Seizure 5 low_record_burden_interpretation_limited low_record_burden_gene CHKA mondo_mondo_0859282_medgen_c5774208_omim_620023 Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures MONDO:MONDO:0859282,MedGen:C5774208,OMIM:620023 4 4 1.0000 condition_record_support_limited 20 0 4 Neurodevelopmental_disorder_with_microcephaly,_movement_abnormalities,_and_seizures 5 low_record_burden_interpretation_limited low_record_burden_gene CHKA human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 4 4 1.0000 condition_record_support_limited 20 0 4 Microcephaly 5 low_record_burden_interpretation_limited low_record_burden_gene CHEK1 mondo_mondo_0957961_medgen_c5882722_omim_620610 Oocyte/zygote/embryo maturation arrest 21 MONDO:MONDO:0957961,MedGen:C5882722,OMIM:620610 4 4 1.0000 condition_record_support_limited 20 0 0 Oocyte/zygote/embryo_maturation_arrest_21 5 low_record_burden_interpretation_limited low_record_burden_gene CHD8 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 4 4 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 212 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD4 moyamoya_angiopathy_with_developmental_delay Moyamoya angiopathy with developmental delay . 4 4 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy_with_developmental_delay 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD4 chd4_related_disorder CHD4-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 CHD4-related_disorder 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD2 mondo_mondo_0100038_medgen_c5568766_orphanet_528084 Complex neurodevelopmental disorder MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 4 4 1.0000 condition_record_support_limited 20 0 2 Complex_neurodevelopmental_disorder 368 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHAMP1 intellectual_disability_with_severe_speech_impairment intellectual disability with severe speech impairment MedGen:CN232368 4 4 1.0000 condition_record_support_limited 20 0 4 intellectual_disability_with_severe_speech_impairment 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFP condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene CFP mondo_mondo_0010713_medgen_c1839454_omim_312060_orphanet_2966 Properdin deficiency, X-linked MONDO:MONDO:0010713,MedGen:C1839454,OMIM:312060,Orphanet:2966 4 4 1.0000 condition_record_support_limited 20 0 1 Properdin_deficiency,_X-linked 8 low_record_burden_interpretation_limited low_record_burden_gene CFAP69 mondo_mondo_0054728_medgen_c4693751_omim_617959 Spermatogenic failure 24 MONDO:MONDO:0054728,MedGen:C4693751,OMIM:617959 4 4 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_24 6 low_record_burden_interpretation_limited low_record_burden_gene CFAP65 mondo_mondo_0032859_medgen_c5231451_omim_618664 Spermatogenic failure 40 MONDO:MONDO:0032859,MedGen:C5231451,OMIM:618664 4 4 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_40 8 low_record_burden_interpretation_limited low_record_burden_gene CFAP45 mondo_mondo_0030475_medgen_c5562019_omim_619608 Heterotaxy, visceral, 11, autosomal, with male infertility MONDO:MONDO:0030475,MedGen:C5562019,OMIM:619608 4 4 1.0000 condition_record_support_limited 20 0 0 Heterotaxy,_visceral,_11,_autosomal,_with_male_infertility 4 low_record_burden_interpretation_limited low_record_burden_gene CFAP418 mondo_mondo_0800359_medgen_c3281046 Retinitis pigmentosa 64 MONDO:MONDO:0800359,MedGen:C3281046 4 4 1.0000 condition_record_support_limited 20 0 3 Retinitis_pigmentosa_64 26 compact_adjacent_exon_block_opportunity local_compact_architecture CFAP418 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 4 4 1.0000 condition_record_support_limited 20 0 4 Retinitis_pigmentosa 26 compact_adjacent_exon_block_opportunity local_compact_architecture CFAP221 mondo_mondo_0010220_medgen_c0340037_omim_279000_orphanet_3471 Young syndrome MONDO:MONDO:0010220,MedGen:C0340037,OMIM:279000,Orphanet:3471 4 4 1.0000 condition_record_support_limited 20 0 2 Young_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene CEP85L condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP78 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 4 4 1.0000 condition_record_support_limited 20 0 4 Cone-rod_dystrophy 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP290 human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Rod-cone dystrophy Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 4 4 1.0000 condition_record_support_limited 20 0 3 Rod-cone_dystrophy 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Polycystic kidney disease Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 4 4 1.0000 condition_record_support_limited 20 0 4 Polycystic_kidney_disease 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0000618_human_phenotype_ontology_hp_0007839_mondo_mondo_0001941_medgen_c0456909 Blindness Human_Phenotype_Ontology:HP:0000618,Human_Phenotype_Ontology:HP:0007839,MONDO:MONDO:0001941,MedGen:C0456909 4 4 1.0000 condition_record_support_limited 20 0 4 Blindness 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP250 cep250_related_disorder CEP250-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 CEP250-related_disorder 102 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CEP164 cep164_related_disorder CEP164-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 CEP164-related_disorder 136 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CENPF cenpf_related_disorder CENPF-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 CENPF-related_disorder 60 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CENPE mondo_mondo_0014473_medgen_c4015080_omim_616051_orphanet_808 Microcephaly 13, primary, autosomal recessive MONDO:MONDO:0014473,MedGen:C4015080,OMIM:616051,Orphanet:808 4 4 1.0000 condition_record_support_limited 20 0 0 Microcephaly_13,_primary,_autosomal_recessive 5 low_record_burden_interpretation_limited low_record_burden_gene CELA2A human_phenotype_ontology_hp_0002155_human_phenotype_ontology_hp_0003082_human_phenotype_ontology_hp_0008174_human_phenotype_ontology_hp_0008332_mondo_mondo_0005347_medgen_c0813230 Hypertriglyceridemia Human_Phenotype_Ontology:HP:0002155,Human_Phenotype_Ontology:HP:0003082,Human_Phenotype_Ontology:HP:0008174,Human_Phenotype_Ontology:HP:0008332,MONDO:MONDO:0005347,MedGen:C0813230 4 4 1.0000 condition_record_support_limited 20 0 4 Hypertriglyceridemia 5 low_record_burden_interpretation_limited low_record_burden_gene CELA2A human_phenotype_ontology_hp_0000822_human_phenotype_ontology_hp_0004949_human_phenotype_ontology_hp_0005126_mondo_mondo_0005044_medgen_c0020538 Hypertensive disorder Human_Phenotype_Ontology:HP:0000822,Human_Phenotype_Ontology:HP:0004949,Human_Phenotype_Ontology:HP:0005126,MONDO:MONDO:0005044,MedGen:C0020538 4 4 1.0000 condition_record_support_limited 20 0 4 Hypertensive_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene CELA2A medgen_c1320657 Diabetes MedGen:C1320657 4 4 1.0000 condition_record_support_limited 20 0 4 Diabetes 5 low_record_burden_interpretation_limited low_record_burden_gene CELA2A mondo_mondo_0005010_mesh_d003324_medgen_c1956346 Coronary artery disorder MONDO:MONDO:0005010,MeSH:D003324,MedGen:C1956346 4 4 1.0000 condition_record_support_limited 20 0 4 Coronary_artery_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene CEACAM16 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene CDKL5 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 4 4 1.0000 condition_record_support_limited 20 0 3 Seizure 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 4 4 1.0000 condition_record_support_limited 20 0 4 Retinal_disorder 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDK19 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene CDK13 cdk13_related_disorder CDK13-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 CDK13-related_disorder 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH23 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 725 large_gene_or_donor_burden_stress_case donor_burden_stress CDH23 childhood_onset_hearing_loss Childhood onset hearing loss . 4 4 1.0000 condition_record_support_limited 20 0 2 Childhood_onset_hearing_loss 725 large_gene_or_donor_burden_stress_case donor_burden_stress CDH11 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene CDCA7L condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD63 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD3G human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 4 4 1.0000 condition_record_support_limited 20 0 2 Severe_combined_immunodeficiency_disease 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCNH mondo_mondo_0024291_medgen_c0158570 Vascular malformation MONDO:MONDO:0024291,MedGen:C0158570 4 4 1.0000 condition_record_support_limited 20 0 3 Vascular_malformation 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCDC88C ccdc88c_related_disorder CCDC88C-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 0 CCDC88C-related_disorder 113 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CCDC47 global_developmental_delay_with_dysmorphic_features_liver_dysfunction_pruritus_and_woolly_hair Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair . 4 4 1.0000 condition_record_support_limited 20 0 4 Global_developmental_delay_with_dysmorphic_features,_liver_dysfunction,_pruritus,_and_woolly_hair 7 low_record_burden_interpretation_limited low_record_burden_gene CCDC39 ccdc39_related_disorder CCDC39-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 CCDC39-related_disorder 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCDC30 mondo_mondo_0032592_medgen_c4748647_omim_618189 Cardiomyopathy, dilated, 2c MONDO:MONDO:0032592,MedGen:C4748647,OMIM:618189 4 4 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy,_dilated,_2c 4 low_record_burden_interpretation_limited low_record_burden_gene CC2D2A human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Polycystic kidney disease Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 4 4 1.0000 condition_record_support_limited 20 0 4 Polycystic_kidney_disease 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A human_phenotype_ontology_hp_0002084_human_phenotype_ontology_hp_0002736_human_phenotype_ontology_hp_0100664_medgen_c4551722 Encephalocele Human_Phenotype_Ontology:HP:0002084,Human_Phenotype_Ontology:HP:0002736,Human_Phenotype_Ontology:HP:0100664,MedGen:C4551722 4 4 1.0000 condition_record_support_limited 20 0 4 Encephalocele 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A autosomal_recessive_cc2d2a_related_disorders Autosomal recessive CC2D2A-related disorders . 4 4 1.0000 condition_record_support_limited 20 0 4 Autosomal_recessive_CC2D2A-related_disorders 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBL medgen_c4016301 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia MedGen:C4016301 4 4 1.0000 condition_record_support_limited 20 0 4 Noonan_syndrome-like_disorder_with_juvenile_myelomonocytic_leukemia 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBL mondo_mondo_0020297_medgen_c5681679_orphanet_98733 Noonan syndrome and Noonan-related syndrome MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 4 4 1.0000 condition_record_support_limited 20 0 2 Noonan_syndrome_and_Noonan-related_syndrome 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBL cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 4 4 1.0000 condition_record_support_limited 20 0 3 Cardiovascular_phenotype 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAV3 human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Elevated circulating creatine kinase concentration Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 4 4 1.0000 condition_record_support_limited 20 0 4 Elevated_circulating_creatine_kinase_concentration 26 compact_adjacent_exon_block_opportunity local_compact_architecture CAV3 mondo_mondo_0013686_medgen_c3280443_omim_614321_orphanet_488650 Distal myopathy, Tateyama type MONDO:MONDO:0013686,MedGen:C3280443,OMIM:614321,Orphanet:488650 4 4 1.0000 condition_record_support_limited 20 0 4 Distal_myopathy,_Tateyama_type 26 compact_adjacent_exon_block_opportunity local_compact_architecture CAV1 mondo_mondo_0012923_medgen_c2675861_omim_612526_orphanet_528_orphanet_696206 Congenital generalized lipodystrophy type 3 MONDO:MONDO:0012923,MedGen:C2675861,OMIM:612526,Orphanet:528,Orphanet:696206 4 4 1.0000 condition_record_support_limited 20 0 3 Congenital_generalized_lipodystrophy_type_3 12 low_record_burden_interpretation_limited low_record_burden_gene CASR mondo_mondo_0016983_medgen_c4552089 Bartter syndrome with hypocalcemia MONDO:MONDO:0016983,MedGen:C4552089 4 4 1.0000 condition_record_support_limited 20 0 3 Bartter_syndrome_with_hypocalcemia 313 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASP2 mondo_mondo_0957999_medgen_c5882733_omim_620653 Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly MONDO:MONDO:0957999,MedGen:C5882733,OMIM:620653 4 4 1.0000 condition_record_support_limited 20 0 4 Intellectual_developmental_disorder,_autosomal_recessive_80,_with_variant_lissencephaly 5 low_record_burden_interpretation_limited low_record_burden_gene CASK human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CARS2 mondo_mondo_0014728_medgen_c5567608_omim_616672_orphanet_477774 Combined oxidative phosphorylation defect type 27 MONDO:MONDO:0014728,MedGen:C5567608,OMIM:616672,Orphanet:477774 4 4 1.0000 condition_record_support_limited 20 0 2 Combined_oxidative_phosphorylation_defect_type_27 4 low_record_burden_interpretation_limited low_record_burden_gene CAPN5 mondo_mondo_0700115_medgen_c0242852_omim_193235_orphanet_329211 Proliferative vitreoretinopathy MONDO:MONDO:0700115,MedGen:C0242852,OMIM:193235,Orphanet:329211 4 4 1.0000 condition_record_support_limited 20 0 3 Proliferative_vitreoretinopathy 4 low_record_burden_interpretation_limited low_record_burden_gene CAMTA1 camta1_related_disorder CAMTA1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 CAMTA1-related_disorder 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAMSAP1 mondo_mondo_0957217_medgen_c5830407_omim_620316 Cortical dysplasia, complex, with other brain malformations 12 MONDO:MONDO:0957217,MedGen:C5830407,OMIM:620316 4 4 1.0000 condition_record_support_limited 20 0 4 Cortical_dysplasia,_complex,_with_other_brain_malformations_12 5 low_record_burden_interpretation_limited low_record_burden_gene CACNA2D1 mondo_mondo_0859327_medgen_c5774265_omim_620149 Developmental and epileptic encephalopathy 110 MONDO:MONDO:0859327,MedGen:C5774265,OMIM:620149 4 4 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy_110 4 low_record_burden_interpretation_limited low_record_burden_gene CACNA1H condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene CACNA1D mondo_mondo_0013960_medgen_c3554018_omim_614896_orphanet_324321 Sinoatrial node dysfunction and deafness MONDO:MONDO:0013960,MedGen:C3554018,OMIM:614896,Orphanet:324321 4 4 1.0000 condition_record_support_limited 20 0 2 Sinoatrial_node_dysfunction_and_deafness 21 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 4 4 1.0000 condition_record_support_limited 20 0 2 Seizure 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 4 4 1.0000 condition_record_support_limited 20 0 4 Global_developmental_delay 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CABP4 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 30 compact_adjacent_exon_block_opportunity local_compact_architecture C3ORF52 mondo_mondo_0859341_medgen_c5774279_omim_620177 Hypotrichosis 15 MONDO:MONDO:0859341,MedGen:C5774279,OMIM:620177 4 4 1.0000 condition_record_support_limited 20 0 0 Hypotrichosis_15 4 low_record_burden_interpretation_limited low_record_burden_gene C1QBP mondo_mondo_0054677_medgen_c4540209_omim_617713 Combined oxidative phosphorylation deficiency 33 MONDO:MONDO:0054677,MedGen:C4540209,OMIM:617713 4 4 1.0000 condition_record_support_limited 20 0 1 Combined_oxidative_phosphorylation_deficiency_33 12 low_record_burden_interpretation_limited low_record_burden_gene C1QB mondo_mondo_0958187_medgen_c5830422_omim_620321 C1Q deficiency 2 MONDO:MONDO:0958187,MedGen:C5830422,OMIM:620321 4 4 1.0000 condition_record_support_limited 20 0 0 C1Q_deficiency_2 7 low_record_burden_interpretation_limited low_record_burden_gene C14ORF39 mondo_mondo_0008927_medgen_c4225424_omim_212550_orphanet_435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome MONDO:MONDO:0008927,MedGen:C4225424,OMIM:212550,Orphanet:435930 4 4 1.0000 condition_record_support_limited 20 0 1 Colobomatous_optic_disc-macular_atrophy-chorioretinopathy_syndrome 17 low_record_burden_interpretation_limited low_record_burden_gene C11ORF65 mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 Familial prostate cancer MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 4 4 1.0000 condition_record_support_limited 20 0 4 Familial_prostate_cancer 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 4 4 1.0000 condition_record_support_limited 20 0 2 Colorectal_cancer 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 Carcinoma of pancreas MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 4 4 1.0000 condition_record_support_limited 20 0 4 Carcinoma_of_pancreas 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C10ORF105 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 65 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture BTK mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 4 4 1.0000 condition_record_support_limited 20 0 2 Inherited_Immunodeficiency_Diseases 348 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRWD3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BRPF1 brpf1_related_disorder BRPF1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 BRPF1-related_disorder 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRIP1 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 1 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 4 4 1.0000 condition_record_support_limited 20 0 4 Breast-ovarian_cancer,_familial,_susceptibility_to,_1 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRIP1 human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 4 4 1.0000 condition_record_support_limited 20 0 2 Breast_carcinoma 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRF1 condition_not_provided condition not provided .|MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 See_cases|not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene BRF1 mondo_mondo_0014529_medgen_c4015495_omim_616202_orphanet_444072 Cerebellar-facial-dental syndrome MONDO:MONDO:0014529,MedGen:C4015495,OMIM:616202,Orphanet:444072 4 4 1.0000 condition_record_support_limited 20 0 2 Cerebellar-facial-dental_syndrome 12 low_record_burden_interpretation_limited low_record_burden_gene BRCA2 inherited_prostate_cancer Inherited prostate cancer . 4 4 1.0000 condition_record_support_limited 20 0 4 Inherited_prostate_cancer 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 4 4 1.0000 condition_record_support_limited 20 0 3 Genetic_non-acquired_premature_ovarian_failure 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 Fanconi anemia MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 4 4 1.0000 condition_record_support_limited 20 0 4 Fanconi_anemia 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Esophageal atresia/tracheoesophageal fistula Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 4 4 1.0000 condition_record_support_limited 20 0 4 Esophageal_atresia/tracheoesophageal_fistula 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Endometrial carcinoma Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 4 4 1.0000 condition_record_support_limited 20 0 4 Endometrial_carcinoma 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 4 4 1.0000 condition_record_support_limited 20 0 2 Colorectal_cancer 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 mondo_mondo_0015278_medgen_c2931038_omim_260350_orphanet_1333 Familial pancreatic carcinoma MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333 4 4 1.0000 condition_record_support_limited 20 0 4 Familial_pancreatic_carcinoma 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRAF mondo_mondo_0007963_medgen_c1835047_omim_155600_orphanet_618 Melanoma, cutaneous malignant, susceptibility to, 1 MONDO:MONDO:0007963,MedGen:C1835047,OMIM:155600,Orphanet:618 4 4 1.0000 condition_record_support_limited 20 0 4 Melanoma,_cutaneous_malignant,_susceptibility_to,_1 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF mondo_mondo_0008903_medgen_c0242379_omim_211980 Lung cancer MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 4 4 1.0000 condition_record_support_limited 20 0 4 Lung_cancer 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 4 4 1.0000 condition_record_support_limited 20 0 2 Carcinoma_of_colon 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BPGM mondo_mondo_0009113_medgen_c1291620_omim_222800_orphanet_714 Deficiency of bisphosphoglycerate mutase MONDO:MONDO:0009113,MedGen:C1291620,OMIM:222800,Orphanet:714 4 4 1.0000 condition_record_support_limited 20 0 1 Deficiency_of_bisphosphoglycerate_mutase 4 low_record_burden_interpretation_limited low_record_burden_gene BMPR1B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene BLTP1 human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 4 4 1.0000 condition_record_support_limited 20 0 4 Arthrogryposis_multiplex_congenita 53 large_gene_or_donor_burden_stress_case donor_burden_stress BLOC1S5 mondo_mondo_0030903_medgen_c5436936_omim_619172 Hermansky-Pudlak syndrome 11 MONDO:MONDO:0030903,MedGen:C5436936,OMIM:619172 4 4 1.0000 condition_record_support_limited 20 0 1 Hermansky-Pudlak_syndrome_11 5 low_record_burden_interpretation_limited low_record_burden_gene BICD2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICC1 mondo_mondo_0011037_medgen_c3275898_omim_601331 Renal dysplasia, cystic, susceptibility to MONDO:MONDO:0011037,MedGen:C3275898,OMIM:601331 4 4 1.0000 condition_record_support_limited 20 0 0 Renal_dysplasia,_cystic,_susceptibility_to 5 low_record_burden_interpretation_limited low_record_burden_gene BHLHA9 mondo_mondo_0012271_medgen_c1836206_omim_609432_orphanet_157801 Mesoaxial synostotic syndactyly with phalangeal reduction MONDO:MONDO:0012271,MedGen:C1836206,OMIM:609432,Orphanet:157801 4 4 1.0000 condition_record_support_limited 20 0 0 Mesoaxial_synostotic_syndactyly_with_phalangeal_reduction 5 low_record_burden_interpretation_limited low_record_burden_gene BEST1 mondo_mondo_0019353_medgen_c0271093_omim_ps248200_orphanet_827 Stargardt disease MONDO:MONDO:0019353,MedGen:C0271093,OMIM:PS248200,Orphanet:827 4 4 1.0000 condition_record_support_limited 20 0 4 Stargardt_disease 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BEST1 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 4 4 1.0000 condition_record_support_limited 20 0 4 Retinal_disorder 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCOR mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 114 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BCL11B bcl11b_related_disorder BCL11B-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 0 BCL11B-related_disorder 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCKDK condition_not_provided condition not provided .|MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 See_cases|not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene BCKDHB bckdhb_related_disorder BCKDHB-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 BCKDHB-related_disorder 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCKDHA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCHE bche_related_disorder BCHE-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 BCHE-related_disorder 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCAT2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene BBS10 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BARD1 breast_and_or_ovarian_cancer Breast and/or ovarian cancer MedGen:CN221562 4 4 1.0000 condition_record_support_limited 20 0 4 Breast_and/or_ovarian_cancer 610 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BAG5 mondo_mondo_0030680_medgen_c5676917_omim_619747 Cardiomyopathy, dilated, 2F MONDO:MONDO:0030680,MedGen:C5676917,OMIM:619747 4 4 1.0000 condition_record_support_limited 20 0 0 Cardiomyopathy,_dilated,_2F 5 low_record_burden_interpretation_limited low_record_burden_gene BAG3 mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 Primary familial dilated cardiomyopathy MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 4 4 1.0000 condition_record_support_limited 20 0 3 Primary_familial_dilated_cardiomyopathy 154 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BAG3 efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 4 4 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 154 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B9D2 mondo_mondo_0013609_medgen_c3280036_omim_614175_orphanet_564 Meckel syndrome, type 10 MONDO:MONDO:0013609,MedGen:C3280036,OMIM:614175,Orphanet:564 4 4 1.0000 condition_record_support_limited 20 0 1 Meckel_syndrome,_type_10 10 low_record_burden_interpretation_limited low_record_burden_gene B9D2 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 4 4 1.0000 condition_record_support_limited 20 0 4 Joubert_syndrome 10 low_record_burden_interpretation_limited low_record_burden_gene B4GALT7 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 4 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B3GALT6 medgen_c4017378 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures MedGen:C4017378 4 4 1.0000 condition_record_support_limited 20 0 2 Spondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_1,_with_fractures 36 single_exon_hotspot_opportunity local_compact_architecture B2M mondo_mondo_0009434_medgen_c1855796_omim_241600 Hypoproteinemia, hypercatabolic MONDO:MONDO:0009434,MedGen:C1855796,OMIM:241600 4 4 1.0000 condition_record_support_limited 20 0 2 Hypoproteinemia,_hypercatabolic 5 low_record_burden_interpretation_limited low_record_burden_gene AXIN2 axin2_related_disorder AXIN2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 AXIN2-related_disorder 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AXDND1 nphs2_related_disorder NPHS2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 NPHS2-related_disorder 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AXDND1 mondo_mondo_0018170_medgen_c3496337_orphanet_357502 Idiopathic nephrotic syndrome MONDO:MONDO:0018170,MedGen:C3496337,Orphanet:357502 4 4 1.0000 condition_record_support_limited 20 0 4 Idiopathic_nephrotic_syndrome 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AVIL mondo_mondo_0032826_medgen_c5231498_omim_618594 Nephrotic syndrome, type 21 MONDO:MONDO:0032826,MedGen:C5231498,OMIM:618594 4 4 1.0000 condition_record_support_limited 20 0 4 Nephrotic_syndrome,_type_21 4 low_record_burden_interpretation_limited low_record_burden_gene AURKC mondo_mondo_0009461_medgen_c0403812_omim_243060_orphanet_137893 Infertility associated with multi-tailed spermatozoa and excessive DNA MONDO:MONDO:0009461,MedGen:C0403812,OMIM:243060,Orphanet:137893 4 4 1.0000 condition_record_support_limited 20 0 2 Infertility_associated_with_multi-tailed_spermatozoa_and_excessive_DNA 6 low_record_burden_interpretation_limited low_record_burden_gene ATXN2 mondo_mondo_0008458_medgen_c0752121_omim_183090_orphanet_98756 Spinocerebellar ataxia type 2 MONDO:MONDO:0008458,MedGen:C0752121,OMIM:183090,Orphanet:98756 4 4 1.0000 condition_record_support_limited 20 0 1 Spinocerebellar_ataxia_type_2 5 low_record_burden_interpretation_limited low_record_burden_gene ATP7A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 254 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V0A1 mondo_mondo_0031021_medgen_c5774183_omim_619970 Developmental and epileptic encephalopathy 104 MONDO:MONDO:0031021,MedGen:C5774183,OMIM:619970 4 4 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy_104 12 low_record_burden_interpretation_limited low_record_burden_gene ATP6AP2 mondo_mondo_0010319_medgen_c1845543_omim_300423_orphanet_93952 Syndromic X-linked intellectual disability Hedera type MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423,Orphanet:93952 4 4 1.0000 condition_record_support_limited 20 0 0 Syndromic_X-linked_intellectual_disability_Hedera_type 6 low_record_burden_interpretation_limited low_record_burden_gene ATP6AP1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene ATP2A2 atp2a2_related_disorder ATP2A2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 ATP2A2-related_disorder 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2A1 atp2a1_related_disorder ATP2A1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 ATP2A1-related_disorder 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A1 mondo_mondo_0012231_medgen_c4721887_omim_609260_orphanet_99947 Charcot-Marie-Tooth disease type 2A2 MONDO:MONDO:0012231,MedGen:C4721887,OMIM:609260,Orphanet:99947 4 4 1.0000 condition_record_support_limited 20 0 4 Charcot-Marie-Tooth_disease_type_2A2 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP13A3 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene ATP13A3 mondo_mondo_0009935_medgen_c5676877_omim_265400_orphanet_422 Pulmonary hypertension, primary, 5 MONDO:MONDO:0009935,MedGen:C5676877,OMIM:265400,Orphanet:422 4 4 1.0000 condition_record_support_limited 20 0 4 Pulmonary_hypertension,_primary,_5 8 low_record_burden_interpretation_limited low_record_burden_gene ATP13A3 human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Pulmonary arterial hypertension Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 4 4 1.0000 condition_record_support_limited 20 0 4 Pulmonary_arterial_hypertension 8 low_record_burden_interpretation_limited low_record_burden_gene ATP11A mondo_mondo_0030724_medgen_c5676952_omim_619810 Hearing loss, autosomal dominant 84 MONDO:MONDO:0030724,MedGen:C5676952,OMIM:619810 4 4 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_dominant_84 6 low_record_burden_interpretation_limited low_record_burden_gene ATOH7 mondo_mondo_0009097_medgen_c1969783_omim_221900_orphanet_91495 Persistent hyperplastic primary vitreous, autosomal recessive MONDO:MONDO:0009097,MedGen:C1969783,OMIM:221900,Orphanet:91495 4 4 1.0000 condition_record_support_limited 20 0 0 Persistent_hyperplastic_primary_vitreous,_autosomal_recessive 5 low_record_burden_interpretation_limited low_record_burden_gene ATN1 congenital_atn1_related_disorder Congenital ATN1 related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 Congenital_ATN1_related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene ATM mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 Carcinoma of pancreas MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 4 4 1.0000 condition_record_support_limited 20 0 4 Carcinoma_of_pancreas 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 4 4 1.0000 condition_record_support_limited 20 0 4 Carcinoma_of_colon 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATL1 mondo_mondo_0013381_medgen_c3150972_omim_613708_orphanet_36386 Neuropathy, hereditary sensory, type 1D MONDO:MONDO:0013381,MedGen:C3150972,OMIM:613708,Orphanet:36386 4 4 1.0000 condition_record_support_limited 20 0 3 Neuropathy,_hereditary_sensory,_type_1D 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATIC mondo_mondo_0012099_medgen_c1837530_omim_608688_orphanet_250977 AICA-ribosiduria MONDO:MONDO:0012099,MedGen:C1837530,OMIM:608688,Orphanet:250977 4 4 1.0000 condition_record_support_limited 20 0 0 AICA-ribosiduria 8 low_record_burden_interpretation_limited low_record_burden_gene ATG12 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 4 4 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_disease 4 low_record_burden_interpretation_limited low_record_burden_gene ASXL1 asxl1_related_disorder ASXL1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 ASXL1-related_disorder 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASPM human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 4 4 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_nervous_system 348 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASL mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 236 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASH1L ash1l_related_disorder ASH1L-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 2 ASH1L-related_disorder 99 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARSB medgen_c4017253 Mucopolysaccharidosis, type vi, severe MedGen:C4017253 4 4 1.0000 condition_record_support_limited 20 0 4 Mucopolysaccharidosis,_type_vi,_severe 254 compact_adjacent_exon_block_opportunity local_compact_architecture ARSB arsb_related_disorder ARSB-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 ARSB-related_disorder 254 compact_adjacent_exon_block_opportunity local_compact_architecture ARMC5 armc5_related_disorder ARMC5-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 ARMC5-related_disorder 30 compact_adjacent_exon_block_opportunity local_compact_architecture ARID1B human_phenotype_ontology_hp_0000219_human_phenotype_ontology_hp_0200062_human_phenotype_ontology_hp_0200086_medgen_c1865017 Thin upper lip vermilion Human_Phenotype_Ontology:HP:0000219,Human_Phenotype_Ontology:HP:0200062,Human_Phenotype_Ontology:HP:0200086,MedGen:C1865017 4 4 1.0000 condition_record_support_limited 20 0 4 Thin_upper_lip_vermilion 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0000170_human_phenotype_ontology_hp_0000179_medgen_c1839739 Thick lower lip vermilion Human_Phenotype_Ontology:HP:0000170,Human_Phenotype_Ontology:HP:0000179,MedGen:C1839739 4 4 1.0000 condition_record_support_limited 20 0 4 Thick_lower_lip_vermilion 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Moderate intellectual disability Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 4 4 1.0000 condition_record_support_limited 20 0 4 Moderate_intellectual_disability 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0000500_human_phenotype_ontology_hp_0000527_medgen_c1853738 Long eyelashes Human_Phenotype_Ontology:HP:0000500,Human_Phenotype_Ontology:HP:0000527,MedGen:C1853738 4 4 1.0000 condition_record_support_limited 20 0 4 Long_eyelashes 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 4 4 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0000507_human_phenotype_ontology_hp_0000513_human_phenotype_ontology_hp_0000581_mondo_mondo_0001008_medgen_c0005744 Blepharophimosis Human_Phenotype_Ontology:HP:0000507,Human_Phenotype_Ontology:HP:0000513,Human_Phenotype_Ontology:HP:0000581,MONDO:MONDO:0001008,MedGen:C0005744 4 4 1.0000 condition_record_support_limited 20 0 4 Blepharophimosis 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Absent speech Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 4 4 1.0000 condition_record_support_limited 20 0 4 Absent_speech 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARHGDIA mondo_mondo_0014099_medgen_c3808953_omim_615244_orphanet_656 Nephrotic syndrome, type 8 MONDO:MONDO:0014099,MedGen:C3808953,OMIM:615244,Orphanet:656 4 4 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome,_type_8 4 low_record_burden_interpretation_limited low_record_burden_gene ARHGAP29 medgen_c1861538 Nonsyndromic cleft lip with or without cleft palate MedGen:C1861538 4 4 1.0000 condition_record_support_limited 20 0 0 Nonsyndromic_cleft_lip_with_or_without_cleft_palate 7 low_record_burden_interpretation_limited low_record_burden_gene ARHGAP19 mondo_mondo_0980963_medgen_cn380845_omim_621466 Charcot-Marie-Tooth disease, axonal, type 2KK MONDO:MONDO:0980963,MedGen:CN380845,OMIM:621466 4 4 1.0000 condition_record_support_limited 20 0 0 Charcot-Marie-Tooth_disease,_axonal,_type_2KK 4 low_record_burden_interpretation_limited low_record_burden_gene ARFGEF1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 4 4 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 79 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARF3 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 4 4 1.0000 condition_record_support_limited 20 0 4 Microcephaly 10 low_record_burden_interpretation_limited low_record_burden_gene ARF3 arf3_related_disorder ARF3-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 ARF3-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene AR mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 4 4 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 365 compact_adjacent_exon_block_opportunity local_compact_architecture APOA5 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene APOA5 mondo_mondo_0007788_medgen_c5444012_omim_145750 Hypertriglyceridemia 1 MONDO:MONDO:0007788,MedGen:C5444012,OMIM:145750 4 4 1.0000 condition_record_support_limited 20 0 2 Hypertriglyceridemia_1 14 low_record_burden_interpretation_limited low_record_burden_gene APOA1 mondo_mondo_0859238_medgen_c5677030_omim_619836 Hypoalphalipoproteinemia, primary, 2, intermediate MONDO:MONDO:0859238,MedGen:C5677030,OMIM:619836 4 4 1.0000 condition_record_support_limited 20 0 3 Hypoalphalipoproteinemia,_primary,_2,_intermediate 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APC apc_associated_polyposis_disorders APC-Associated Polyposis Disorders . 4 4 1.0000 condition_record_support_limited 20 0 4 APC-Associated_Polyposis_Disorders 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control AP5Z1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 4 4 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4S1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP1G1 mondo_mondo_0859196_medgen_c5561994_omim_619548 Usmani-Riazuddin syndrome, autosomal recessive MONDO:MONDO:0859196,MedGen:C5561994,OMIM:619548 4 4 1.0000 condition_record_support_limited 20 0 2 Usmani-Riazuddin_syndrome,_autosomal_recessive 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANXA11 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene ANXA11 mondo_mondo_0027694_medgen_c4693381_omim_617839 Amyotrophic lateral sclerosis type 23 MONDO:MONDO:0027694,MedGen:C4693381,OMIM:617839 4 4 1.0000 condition_record_support_limited 20 0 3 Amyotrophic_lateral_sclerosis_type_23 6 low_record_burden_interpretation_limited low_record_burden_gene ANOS1 human_phenotype_ontology_hp_0000044_human_phenotype_ontology_hp_0003335_human_phenotype_ontology_hp_0008224_mondo_mondo_0018555_medgen_c0271623_omim_ps147950_orphanet_432 Hypogonadotropic hypogonadism Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432 4 4 1.0000 condition_record_support_limited 20 0 3 Hypogonadotropic_hypogonadism 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO6 ano6_related_disorder ANO6-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 1 ANO6-related_disorder 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO5 human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Elevated circulating creatine kinase concentration Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 4 4 1.0000 condition_record_support_limited 20 0 2 Elevated_circulating_creatine_kinase_concentration 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANK2 ank2_related_disorder ANK2-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 0 ANK2-related_disorder 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AMOTL1 mondo_mondo_0978295_medgen_c6012720_omim_621192 Craniofaciocardiohepatic syndrome MONDO:MONDO:0978295,MedGen:C6012720,OMIM:621192 4 4 1.0000 condition_record_support_limited 20 0 2 Craniofaciocardiohepatic_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene AMHR2 medgen_c3897940 Persistent mullerian duct syndrome, type II MedGen:C3897940 4 4 1.0000 condition_record_support_limited 20 0 2 Persistent_mullerian_duct_syndrome,_type_II 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMHR2 medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 4 4 1.0000 condition_record_support_limited 20 0 1 Genetic_non-acquired_premature_ovarian_failure 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMH medgen_c3897939 Persistent mullerian duct syndrome, type I MedGen:C3897939 4 4 1.0000 condition_record_support_limited 20 0 2 Persistent_mullerian_duct_syndrome,_type_I 30 compact_adjacent_exon_block_opportunity local_compact_architecture AMD1 mondo_mondo_0030059_medgen_c5394501_omim_618916 Developmental and epileptic encephalopathy, 87 MONDO:MONDO:0030059,MedGen:C5394501,OMIM:618916 4 4 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_87 5 low_record_burden_interpretation_limited low_record_burden_gene AMBN mondo_mondo_0014560_medgen_c4225394_omim_616270_orphanet_88661 Amelogenesis imperfecta type 1F MONDO:MONDO:0014560,MedGen:C4225394,OMIM:616270,Orphanet:88661 4 4 1.0000 condition_record_support_limited 20 0 0 Amelogenesis_imperfecta_type_1F 5 low_record_burden_interpretation_limited low_record_burden_gene ALX4 mondo_mondo_0013268_medgen_c3150703_omim_613451_orphanet_228390 Frontonasal dysplasia with alopecia and genital anomaly MONDO:MONDO:0013268,MedGen:C3150703,OMIM:613451,Orphanet:228390 4 4 1.0000 condition_record_support_limited 20 0 1 Frontonasal_dysplasia_with_alopecia_and_genital_anomaly 21 compact_adjacent_exon_block_opportunity local_compact_architecture ALPL autosomal_recessive_alpl_related_disorders Autosomal recessive ALPL-related disorders . 4 4 1.0000 condition_record_support_limited 20 0 3 Autosomal_recessive_ALPL-related_disorders 532 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOX12B ichthyosis_and_erythrokeratoderma Ichthyosis and erythrokeratoderma . 4 4 1.0000 condition_record_support_limited 20 0 4 Ichthyosis_and_erythrokeratoderma 150 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALMS1 medgen_c1858080 Retinal dystrophy, early-onset severe MedGen:C1858080 4 4 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy,_early-onset_severe 999 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALG9 alg9_related_disorder ALG9-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 ALG9-related_disorder 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 120 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH7A1 aldh7a1_related_disorder ALDH7A1-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 ALDH7A1-related_disorder 184 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH1A3 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH1A2 mondo_mondo_0859571_medgen_c5774210_omim_620025 Diaphragmatic hernia 4, with cardiovascular defects MONDO:MONDO:0859571,MedGen:C5774210,OMIM:620025 4 4 1.0000 condition_record_support_limited 20 0 0 Diaphragmatic_hernia_4,_with_cardiovascular_defects 4 low_record_burden_interpretation_limited low_record_burden_gene AKR1C2 gene_6994_mondo_mondo_0013664_medgen_c1839840_omim_614279_orphanet_443087 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency Gene:6994,MONDO:MONDO:0013664,MedGen:C1839840,OMIM:614279,Orphanet:443087 4 4 1.0000 condition_record_support_limited 20 0 0 46,XY_disorder_of_sex_development_due_to_testicular_17,20-desmolase_deficiency 4 low_record_burden_interpretation_limited low_record_burden_gene AIFM1 mondo_mondo_0010689_medgen_c0795910_omim_310490_orphanet_101078 Charcot-Marie-Tooth disease X-linked recessive 4 MONDO:MONDO:0010689,MedGen:C0795910,OMIM:310490,Orphanet:101078 4 4 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease_X-linked_recessive_4 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIFM1 mondo_mondo_0021944_medgen_c1852271_omim_ps609129 Auditory neuropathy MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 4 4 1.0000 condition_record_support_limited 20 0 0 Auditory_neuropathy 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHI1 mondo_mondo_0008944_medgen_c4551568_omim_213300 Joubert syndrome 1 MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300 4 4 1.0000 condition_record_support_limited 20 0 3 Joubert_syndrome_1 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGXT human_phenotype_ontology_hp_0000102_human_phenotype_ontology_hp_0000787_mondo_mondo_0008171_medgen_c0392525 Nephrolithiasis Human_Phenotype_Ontology:HP:0000102,Human_Phenotype_Ontology:HP:0000787,MONDO:MONDO:0008171,MedGen:C0392525 4 4 1.0000 condition_record_support_limited 20 0 4 Nephrolithiasis 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGXT human_phenotype_ontology_hp_0000121_mondo_mondo_0001567_medgen_c0027709 Nephrocalcinosis Human_Phenotype_Ontology:HP:0000121,MONDO:MONDO:0001567,MedGen:C0027709 4 4 1.0000 condition_record_support_limited 20 0 4 Nephrocalcinosis 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGTR1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 3 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene AGT human_phenotype_ontology_hp_0008660_mondo_mondo_0017609_medgen_c0266313_orphanet_3033 Renal tubular dysgenesis Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033 4 4 1.0000 condition_record_support_limited 20 0 1 Renal_tubular_dysgenesis 17 low_record_burden_interpretation_limited low_record_burden_gene AGRN condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AGO1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 16 low_record_burden_interpretation_limited low_record_burden_gene AGMO condition_not_provided condition not provided .|MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 See_cases|not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene AGL mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 624 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFF3 condition_not_provided condition not provided .|MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 See_cases|not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene AFF2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 16 low_record_burden_interpretation_limited low_record_burden_gene ADSL adsl_related_disorder ADSL-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 4 ADSL-related_disorder 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADH5 mondo_mondo_0030894_medgen_c5436906_omim_619151_orphanet_611216 AMED syndrome, digenic MONDO:MONDO:0030894,MedGen:C5436906,OMIM:619151,Orphanet:611216 4 4 1.0000 condition_record_support_limited 20 0 0 AMED_syndrome,_digenic 4 low_record_burden_interpretation_limited low_record_burden_gene ADGRV1 mondo_mondo_0010169_medgen_c1848634_omim_276901_orphanet_231178_orphanet_886 Usher syndrome type 2A MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886 4 4 1.0000 condition_record_support_limited 20 0 1 Usher_syndrome_type_2A 650 large_gene_or_donor_burden_stress_case donor_burden_stress ADGRL1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 4 4 1.0000 condition_record_support_limited 20 0 4 Intellectual_disability 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRL1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRG2 mondo_mondo_0010511_medgen_c4310815_omim_300985 Vas deferens, congenital bilateral aplasia of, X-linked MONDO:MONDO:0010511,MedGen:C4310815,OMIM:300985 4 4 1.0000 condition_record_support_limited 20 0 3 Vas_deferens,_congenital_bilateral_aplasia_of,_X-linked 11 low_record_burden_interpretation_limited low_record_burden_gene ADCY5 mondo_mondo_0859211_medgen_c5562038_omim_619651 Neurodevelopmental disorder with hyperkinetic movements and dyskinesia MONDO:MONDO:0859211,MedGen:C5562038,OMIM:619651 4 4 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_hyperkinetic_movements_and_dyskinesia 57 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture ADCY3 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene ADCY10 mondo_mondo_0007748_medgen_c0342639_omim_143870 Familial idiopathic hypercalciuria MONDO:MONDO:0007748,MedGen:C0342639,OMIM:143870 4 4 1.0000 condition_record_support_limited 20 0 2 Familial_idiopathic_hypercalciuria 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAR mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTSL4 mondo_mondo_0011347_medgen_c1863678_omim_603595 Craniosynostosis with ectopia lentis MONDO:MONDO:0011347,MedGen:C1863678,OMIM:603595 4 4 1.0000 condition_record_support_limited 20 0 3 Craniosynostosis_with_ectopia_lentis 166 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTSL4 adamtsl4_related_disorder ADAMTSL4-related disorder . 4 4 1.0000 condition_record_support_limited 20 0 3 ADAMTSL4-related_disorder 166 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTS19 mondo_mondo_0859572_medgen_c5774226_omim_620067 Cardiac valvular dysplasia 2 MONDO:MONDO:0859572,MedGen:C5774226,OMIM:620067 4 4 1.0000 condition_record_support_limited 20 0 0 Cardiac_valvular_dysplasia_2 9 low_record_burden_interpretation_limited low_record_burden_gene ADAM10 mondo_mondo_0014234_medgen_c0406811_omim_615537_orphanet_178307 Reticulate acropigmentation of Kitamura MONDO:MONDO:0014234,MedGen:C0406811,OMIM:615537,Orphanet:178307 4 4 1.0000 condition_record_support_limited 20 0 0 Reticulate_acropigmentation_of_Kitamura 4 low_record_burden_interpretation_limited low_record_burden_gene ACY1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene ACVR1 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 4 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene ACTN4 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene ACTN1 human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 4 4 1.0000 condition_record_support_limited 20 0 2 Thrombocytopenia 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTN1 human_phenotype_ontology_hp_0040185_medgen_c2751260 Macrothrombocytopenia Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260 4 4 1.0000 condition_record_support_limited 20 0 4 Macrothrombocytopenia 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTG2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 4 4 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 acta1_related_myopathies ACTA1-related myopathies . 4 4 1.0000 condition_record_support_limited 20 0 3 ACTA1-related_myopathies 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACD mondo_mondo_0014690_medgen_c4225284_omim_616553_orphanet_3322 Dyskeratosis congenita, autosomal dominant 6 MONDO:MONDO:0014690,MedGen:C4225284,OMIM:616553,Orphanet:3322 4 4 1.0000 condition_record_support_limited 20 0 1 Dyskeratosis_congenita,_autosomal_dominant_6 5 low_record_burden_interpretation_limited low_record_burden_gene ACAN medgen_c4540542 Short stature and advanced bone age, with early-onset osteoarthritis MedGen:C4540542 4 4 1.0000 condition_record_support_limited 20 0 2 Short_stature_and_advanced_bone_age,_with_early-onset_osteoarthritis 203 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ACAN medgen_c4540541 Short stature and advanced bone age MedGen:C4540541 4 4 1.0000 condition_record_support_limited 20 0 0 Short_stature_and_advanced_bone_age 203 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ACADVL human_phenotype_ontology_hp_0003201_medgen_c0035410 Rhabdomyolysis Human_Phenotype_Ontology:HP:0003201,MedGen:C0035410 4 4 1.0000 condition_record_support_limited 20 0 4 Rhabdomyolysis 513 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACADS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 4 Inborn_genetic_diseases 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACADM mcadd_medium_chain_acyl_coa_dehydrogenase_deficiency_full_acadm_sequencing_newborn_screening_follow_up MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up . 4 4 1.0000 condition_record_support_limited 20 0 4 MCADD_-_Medium-chain_acyl-CoA_dehydrogenase_deficiency_–_full_ACADM_sequencing_newborn_screening_follow_up 370 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABL1 medgen_c4016396 Leukemia, Philadelphia chromosome-positive, resistant to imatinib MedGen:C4016396 4 4 1.0000 condition_record_support_limited 20 0 1 Leukemia,_Philadelphia_chromosome-positive,_resistant_to_imatinib 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCG5 mondo_mondo_0014907_medgen_c4310724_omim_617088 Short-rib thoracic dysplasia 15 with polydactyly MONDO:MONDO:0014907,MedGen:C4310724,OMIM:617088 4 4 1.0000 condition_record_support_limited 20 0 3 Short-rib_thoracic_dysplasia_15_with_polydactyly 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCD4 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 4 not_provided 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB7 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 4 4 1.0000 condition_record_support_limited 20 4 2 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene ABCA7 mondo_mondo_0012153_medgen_c4282179_omim_608907 Alzheimer disease 9 MONDO:MONDO:0012153,MedGen:C4282179,OMIM:608907 4 4 1.0000 condition_record_support_limited 20 0 1 Alzheimer_disease_9 18 low_record_burden_interpretation_limited low_record_burden_gene ABCA4 maculopathy maculopathy . 4 4 1.0000 condition_record_support_limited 20 0 4 maculopathy 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Visual impairment Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 4 4 1.0000 condition_record_support_limited 20 0 3 Visual_impairment 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 4 4 1.0000 condition_record_support_limited 20 0 4 Optic_atrophy 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 mondo_mondo_0957048_medgen_c5681367_orphanet_519302 Isolated macular dystrophy MONDO:MONDO:0957048,MedGen:C5681367,Orphanet:519302 4 4 1.0000 condition_record_support_limited 20 0 1 Isolated_macular_dystrophy 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA3 medgen_c5680383_orphanet_100049 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies MedGen:C5680383,Orphanet:100049 4 4 1.0000 condition_record_support_limited 20 0 4 Primary_interstitial_lung_disease_specific_to_childhood_due_to_pulmonary_surfactant_protein_anomalies 135 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ABCA2 condition_not_provided condition not provided MedGen:C3661900 4 4 1.0000 condition_record_support_limited 20 4 1 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene AARS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 4 4 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZRSR2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene ZP3 mondo_mondo_0021574_medgen_c4540205_omim_617712 Oocyte maturation defect 3 MONDO:MONDO:0021574,MedGen:C4540205,OMIM:617712 3 3 1.0000 condition_record_support_limited 20 0 1 Oocyte_maturation_defect_3 5 low_record_burden_interpretation_limited low_record_burden_gene ZNF711 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 16 low_record_burden_interpretation_limited low_record_burden_gene ZNF644 mondo_mondo_0013604_medgen_c3279997_omim_614167 Myopia 21, autosomal dominant MONDO:MONDO:0013604,MedGen:C3279997,OMIM:614167 3 3 1.0000 condition_record_support_limited 20 0 0 Myopia_21,_autosomal_dominant 3 low_record_burden_interpretation_limited low_record_burden_gene ZNF462 mondo_mondo_0100172_medgen_cn240835_omim_ps156200 Intellectual disability, autosomal dominant MONDO:MONDO:0100172,MedGen:CN240835,OMIM:PS156200 3 3 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability,_autosomal_dominant 84 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZNF462 human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 3 3 1.0000 condition_record_support_limited 20 0 3 Craniosynostosis_syndrome 84 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZNF408 mondo_mondo_0014653_medgen_c4225315_omim_616469_orphanet_791 Retinitis pigmentosa 72 MONDO:MONDO:0014653,MedGen:C4225315,OMIM:616469,Orphanet:791 3 3 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa_72 13 low_record_burden_interpretation_limited low_record_burden_gene ZNF408 mondo_mondo_0014652_medgen_c4225316_omim_616468_orphanet_891 Exudative vitreoretinopathy 6 MONDO:MONDO:0014652,MedGen:C4225316,OMIM:616468,Orphanet:891 3 3 1.0000 condition_record_support_limited 20 0 2 Exudative_vitreoretinopathy_6 13 low_record_burden_interpretation_limited low_record_burden_gene ZNF335 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZMYND10 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 35 compact_adjacent_exon_block_opportunity local_compact_architecture ZFYVE26 human_phenotype_ontology_hp_0011442_medgen_c4023354 Abnormal central motor function Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 3 3 1.0000 condition_record_support_limited 20 0 0 Abnormal_central_motor_function 454 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZFX condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene ZFTRAF1 mondo_mondo_0859207_medgen_c5562031_omim_619639 Neurodevelopmental disorder with hypotonia and gross motor and speech delay MONDO:MONDO:0859207,MedGen:C5562031,OMIM:619639 3 3 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_hypotonia_and_gross_motor_and_speech_delay 3 low_record_burden_interpretation_limited low_record_burden_gene ZFPM2 mondo_mondo_0014480_medgen_c4015129_omim_616067_orphanet_251510 46,XY sex reversal 9 MONDO:MONDO:0014480,MedGen:C4015129,OMIM:616067,Orphanet:251510 3 3 1.0000 condition_record_support_limited 20 0 0 46,XY_sex_reversal_9 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZFHX4 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene ZFHX3 epilepsy_idiopathic_generalized_20 EPILEPSY, IDIOPATHIC GENERALIZED 20 MedGen:CN380873,OMIM:621500 3 3 1.0000 condition_record_support_limited 20 0 0 EPILEPSY,_IDIOPATHIC_GENERALIZED_20 38 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZEB2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 389 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZEB2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 389 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZEB1 human_phenotype_ontology_hp_0001131_human_phenotype_ontology_hp_0007775_mondo_mondo_0018102_medgen_c0010036_orphanet_34533 Corneal dystrophy Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533 3 3 1.0000 condition_record_support_limited 20 0 2 Corneal_dystrophy 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZDHHC9 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB7A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB18 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZAP70 mondo_mondo_0014861_medgen_c4310768_omim_617006 Autoimmune disease, multisystem, infantile-onset, 2 MONDO:MONDO:0014861,MedGen:C4310768,OMIM:617006 3 3 1.0000 condition_record_support_limited 20 0 3 Autoimmune_disease,_multisystem,_infantile-onset,_2 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YWHAG mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YARS1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene YAP1 mondo_mondo_0007355_medgen_c3805432_omim_120433_orphanet_1473 Uveal coloboma-cleft lip and palate-intellectual disability MONDO:MONDO:0007355,MedGen:C3805432,OMIM:120433,Orphanet:1473 3 3 1.0000 condition_record_support_limited 20 0 0 Uveal_coloboma-cleft_lip_and_palate-intellectual_disability 5 low_record_burden_interpretation_limited low_record_burden_gene XRCC1 mondo_mondo_0033116_medgen_c4539948_omim_617633 Spinocerebellar ataxia, autosomal recessive 26 MONDO:MONDO:0033116,MedGen:C4539948,OMIM:617633 3 3 1.0000 condition_record_support_limited 20 0 1 Spinocerebellar_ataxia,_autosomal_recessive_26 3 low_record_burden_interpretation_limited low_record_burden_gene WWOX human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 3 3 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_nervous_system 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WT1 human_phenotype_ontology_hp_0012593_medgen_c0445118 Nephrotic range proteinuria Human_Phenotype_Ontology:HP:0012593,MedGen:C0445118 3 3 1.0000 condition_record_support_limited 20 0 2 Nephrotic_range_proteinuria 153 compact_adjacent_exon_block_opportunity local_compact_architecture WT1 mondo_mondo_0012723_medgen_c1857821_omim_611755_orphanet_65 Leber congenital amaurosis 10 MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65 3 3 1.0000 condition_record_support_limited 20 0 2 Leber_congenital_amaurosis_10 153 compact_adjacent_exon_block_opportunity local_compact_architecture WT1 mondo_mondo_0019006_medgen_c4273714_orphanet_656 Familial idiopathic steroid-resistant nephrotic syndrome MONDO:MONDO:0019006,MedGen:C4273714,Orphanet:656 3 3 1.0000 condition_record_support_limited 20 0 3 Familial_idiopathic_steroid-resistant_nephrotic_syndrome 153 compact_adjacent_exon_block_opportunity local_compact_architecture WT1 mondo_mondo_0024507_medgen_c0344542_omim_106210_orphanet_250923 Aniridia 1 MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210,Orphanet:250923 3 3 1.0000 condition_record_support_limited 20 0 3 Aniridia_1 153 compact_adjacent_exon_block_opportunity local_compact_architecture WRAP53 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene WRAP53 mondo_mondo_0013520_medgen_c3151442_omim_613988_orphanet_1775 Dyskeratosis congenita, autosomal recessive 3 MONDO:MONDO:0013520,MedGen:C3151442,OMIM:613988,Orphanet:1775 3 3 1.0000 condition_record_support_limited 20 0 1 Dyskeratosis_congenita,_autosomal_recessive_3 7 low_record_burden_interpretation_limited low_record_burden_gene WNT4 mondo_mondo_0008019_medgen_c2675014_omim_158330_orphanet_247768 Mullerian aplasia and hyperandrogenism MONDO:MONDO:0008019,MedGen:C2675014,OMIM:158330,Orphanet:247768 3 3 1.0000 condition_record_support_limited 20 0 0 Mullerian_aplasia_and_hyperandrogenism 5 low_record_burden_interpretation_limited low_record_burden_gene WNT1 mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 Osteogenesis imperfecta MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 3 3 1.0000 condition_record_support_limited 20 0 3 Osteogenesis_imperfecta 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WLS wls_syndrome WLS syndrome . 3 3 1.0000 condition_record_support_limited 20 0 3 WLS_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene WFS1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WFS1 mondo_mondo_0019587_medgen_c5779548_omim_ps124900_orphanet_90635 Autosomal dominant nonsyndromic hearing loss MONDO:MONDO:0019587,MedGen:C5779548,OMIM:PS124900,Orphanet:90635 3 3 1.0000 condition_record_support_limited 20 0 2 Autosomal_dominant_nonsyndromic_hearing_loss 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR91 condition_not_provided condition not provided .|MedGen:C3661900|MedGen:CN169374 3 3 1.0000 condition_record_support_limited 20 3 0 See_cases|not_provided|not_specified 4 low_record_burden_interpretation_limited low_record_burden_gene WDR83OS mondo_mondo_0975877_medgen_c5975528_omim_621016 Neurodevelopmental disorder with variable familial hypercholanemia MONDO:MONDO:0975877,MedGen:C5975528,OMIM:621016 3 3 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_variable_familial_hypercholanemia 5 low_record_burden_interpretation_limited low_record_burden_gene WDR83 mondo_mondo_0975877_medgen_c5975528_omim_621016 Neurodevelopmental disorder with variable familial hypercholanemia MONDO:MONDO:0975877,MedGen:C5975528,OMIM:621016 3 3 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_variable_familial_hypercholanemia 5 low_record_burden_interpretation_limited low_record_burden_gene WDR74 mondo_mondo_1060177_medgen_cn379761_omim_621304 Developmental and epileptic encephalopathy 119 MONDO:MONDO:1060177,MedGen:CN379761,OMIM:621304 3 3 1.0000 condition_record_support_limited 20 0 3 Developmental_and_epileptic_encephalopathy_119 24 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture WDR73 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 3 3 1.0000 condition_record_support_limited 20 0 3 Nephrotic_syndrome 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR72 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR72 human_phenotype_ontology_hp_0008341_mondo_mondo_0015827_medgen_c1704380_orphanet_18 Distal renal tubular acidosis Human_Phenotype_Ontology:HP:0008341,MONDO:MONDO:0015827,MedGen:C1704380,Orphanet:18 3 3 1.0000 condition_record_support_limited 20 0 2 Distal_renal_tubular_acidosis 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR62 mondo_mondo_0016660_medgen_c3711387_omim_ps251200_orphanet_2512 Autosomal recessive primary microcephaly MONDO:MONDO:0016660,MedGen:C3711387,OMIM:PS251200,Orphanet:2512 3 3 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_primary_microcephaly 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR45B mondo_mondo_0060704_medgen_c4693816_omim_617977 Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures MONDO:MONDO:0060704,MedGen:C4693816,OMIM:617977 3 3 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_spastic_quadriplegia_and_brain_abnormalities_with_or_without_seizures 3 low_record_burden_interpretation_limited low_record_burden_gene WDR45 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 3 3 1.0000 condition_record_support_limited 20 0 3 Seizure 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR37 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene WDR35 mondo_mondo_0015461_medgen_c0036996_orphanet_1505 Short rib-polydactyly syndrome MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505 3 3 1.0000 condition_record_support_limited 20 0 3 Short_rib-polydactyly_syndrome 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR35 mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 Jeune thoracic dystrophy MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 3 3 1.0000 condition_record_support_limited 20 0 3 Jeune_thoracic_dystrophy 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR19 mondo_mondo_0009032_medgen_c4551571_omim_ps218330_orphanet_1515 Cranioectodermal dysplasia MONDO:MONDO:0009032,MedGen:C4551571,OMIM:PS218330,Orphanet:1515 3 3 1.0000 condition_record_support_limited 20 0 3 Cranioectodermal_dysplasia 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR11 wdr11_related_disorder WDR11-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 WDR11-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene WDPCP condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WASHC5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WAS human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 3 3 1.0000 condition_record_support_limited 20 0 2 Thrombocytopenia 206 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WARS2 wars2_related_disorder WARS2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 WARS2-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene VWF human_phenotype_ontology_hp_0012147_medgen_c4023022 Reduced quantity of Von Willebrand factor Human_Phenotype_Ontology:HP:0012147,MedGen:C4023022 3 3 1.0000 condition_record_support_limited 20 0 3 Reduced_quantity_of_Von_Willebrand_factor 454 large_gene_or_donor_burden_stress_case donor_burden_stress VWA8 nonsyndromic_cleft_lip_palate Nonsyndromic cleft lip palate . 3 3 1.0000 condition_record_support_limited 20 0 0 Nonsyndromic_cleft_lip_palate 3 low_record_burden_interpretation_limited low_record_burden_gene VWA1 vwa1_related_disorder VWA1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 VWA1-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene VSX2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 52 compact_adjacent_exon_block_opportunity local_compact_architecture VPS51 mondo_mondo_0032831_medgen_c5231425_omim_618606_orphanet_613267 Pontocerebellar hypoplasia, type 13 MONDO:MONDO:0032831,MedGen:C5231425,OMIM:618606,Orphanet:613267 3 3 1.0000 condition_record_support_limited 20 0 1 Pontocerebellar_hypoplasia,_type_13 3 low_record_burden_interpretation_limited low_record_burden_gene VPS50 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene VPS4A syndromic_congenital_hemolytic_and_dyserythropoietic_anemia Syndromic congenital hemolytic and dyserythropoietic anemia . 3 3 1.0000 condition_record_support_limited 20 0 3 Syndromic_congenital_hemolytic_and_dyserythropoietic_anemia 6 low_record_burden_interpretation_limited low_record_burden_gene VPS13D vps13d_related_disorder VPS13D-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 VPS13D-related_disorder 76 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13C vps13c_related_disorder VPS13C-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 VPS13C-related_disorder 88 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 3 3 1.0000 condition_record_support_limited 20 0 3 Global_developmental_delay 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 3 3 1.0000 condition_record_support_limited 20 0 3 Abnormality_of_the_nervous_system 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13A vps13a_related_disorder VPS13A-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 VPS13A-related_disorder 494 large_gene_or_donor_burden_stress_case donor_burden_stress VMA22 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene VMA22 mondo_mondo_0014789_medgen_c4225191_omim_616828_orphanet_468684 CCDC115-CDG MONDO:MONDO:0014789,MedGen:C4225191,OMIM:616828,Orphanet:468684 3 3 1.0000 condition_record_support_limited 20 0 1 CCDC115-CDG 5 low_record_burden_interpretation_limited low_record_burden_gene VKORC1 mondo_mondo_0007390_medgen_c0750384_omim_122700 Warfarin response MONDO:MONDO:0007390,MedGen:C0750384,OMIM:122700 3 3 1.0000 condition_record_support_limited 20 0 0 Warfarin_response 5 low_record_burden_interpretation_limited low_record_burden_gene UVSSA condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene UTP14C condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene USP7 usp7_related_disorder USP7-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 USP7-related_disorder 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USP26 mondo_mondo_0859478_medgen_c5829562_omim_301101 Spermatogenic failure, X-linked, 6 MONDO:MONDO:0859478,MedGen:C5829562,OMIM:301101 3 3 1.0000 condition_record_support_limited 20 0 1 Spermatogenic_failure,_X-linked,_6 3 low_record_burden_interpretation_limited low_record_burden_gene USH2A mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 3 3 1.0000 condition_record_support_limited 20 0 3 Nonsyndromic_genetic_hearing_loss 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH2A mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 3 3 1.0000 condition_record_support_limited 20 0 3 Leber_congenital_amaurosis 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH2A mondo_mondo_0011708_medgen_c1847626_omim_606705_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 36 MONDO:MONDO:0011708,MedGen:C1847626,OMIM:606705,Orphanet:90635 3 3 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_nonsyndromic_hearing_loss_36 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH1C mondo_mondo_0016484_medgen_c0339534_orphanet_231178 Usher syndrome type 2 MONDO:MONDO:0016484,MedGen:C0339534,Orphanet:231178 3 3 1.0000 condition_record_support_limited 20 0 3 Usher_syndrome_type_2 199 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UROS uros_related_disorder UROS-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 UROS-related_disorder 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UROD mondo_mondo_0015104_medgen_c0162566_orphanet_101330 Porphyria cutanea tarda MONDO:MONDO:0015104,MedGen:C0162566,Orphanet:101330 3 3 1.0000 condition_record_support_limited 20 0 2 Porphyria_cutanea_tarda 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UROD mondo_mondo_0019799_medgen_c0162569_orphanet_95159 Hepatoerythropoietic porphyria MONDO:MONDO:0019799,MedGen:C0162569,Orphanet:95159 3 3 1.0000 condition_record_support_limited 20 0 2 Hepatoerythropoietic_porphyria 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UQCRFS1 mondo_mondo_0032909_medgen_c5394051_omim_618775 Mitochondrial complex III deficiency, nuclear type 10 MONDO:MONDO:0032909,MedGen:C5394051,OMIM:618775 3 3 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_complex_III_deficiency,_nuclear_type_10 3 low_record_burden_interpretation_limited low_record_burden_gene UQCRC2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene UQCRC1 mondo_mondo_0036193_medgen_c5543299_omim_619279_orphanet_611237 Parkinsonism with polyneuropathy MONDO:MONDO:0036193,MedGen:C5543299,OMIM:619279,Orphanet:611237 3 3 1.0000 condition_record_support_limited 20 0 0 Parkinsonism_with_polyneuropathy 4 low_record_burden_interpretation_limited low_record_burden_gene UPF3B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UPB1 upb1_related_disorder UPB1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 UPB1-related_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UPB1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UNC80 human_phenotype_ontology_hp_0001298_medgen_c0085584 Encephalopathy Human_Phenotype_Ontology:HP:0001298,MedGen:C0085584 3 3 1.0000 condition_record_support_limited 20 0 3 Encephalopathy 147 large_gene_or_donor_burden_stress_case donor_burden_stress UNC13D unc13d_related_disorder UNC13D-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 UNC13D-related_disorder 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UNC13A mondo_mondo_0980941_medgen_cn380726_omim_621456 Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures MONDO:MONDO:0980941,MedGen:CN380726,OMIM:621456 3 3 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_speech_delay,_movement_abnormalities,_and_seizures 8 low_record_burden_interpretation_limited low_record_burden_gene UNC13A mondo_mondo_0980940_medgen_cn380723_omim_621455 Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech MONDO:MONDO:0980940,MedGen:CN380723,OMIM:621455 3 3 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_hypotonia,_epilepsy,_and_absent_speech 8 low_record_burden_interpretation_limited low_record_burden_gene UMPS human_phenotype_ontology_hp_0003218_medgen_c0268128_orphanet_30 Oroticaciduria Human_Phenotype_Ontology:HP:0003218,MedGen:C0268128,Orphanet:30 3 3 1.0000 condition_record_support_limited 20 0 1 Oroticaciduria 5 low_record_burden_interpretation_limited low_record_burden_gene UFM1 mondo_mondo_0033486_medgen_c4693535_omim_617899 Leukodystrophy, hypomyelinating, 14 MONDO:MONDO:0033486,MedGen:C4693535,OMIM:617899 3 3 1.0000 condition_record_support_limited 20 0 2 Leukodystrophy,_hypomyelinating,_14 4 low_record_burden_interpretation_limited low_record_burden_gene UBTF mondo_mondo_0044701_medgen_c4540086_omim_617672_orphanet_500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder MONDO:MONDO:0044701,MedGen:C4540086,OMIM:617672,Orphanet:500180 3 3 1.0000 condition_record_support_limited 20 0 1 Childhood-onset_motor_and_cognitive_regression_syndrome_with_extrapyramidal_movement_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene UBR4 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 3 3 1.0000 condition_record_support_limited 20 0 0 Short_stature 3 low_record_burden_interpretation_limited low_record_burden_gene UBR1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture UBIAD1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene UBE3B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBE2A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 20 compact_adjacent_exon_block_opportunity local_compact_architecture UBA2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 28 compact_adjacent_exon_block_opportunity local_compact_architecture TYROBP condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene TYMS mondo_mondo_0031057_medgen_c5774217_omim_620040 Dyskeratosis congenita, digenic MONDO:MONDO:0031057,MedGen:C5774217,OMIM:620040 3 3 1.0000 condition_record_support_limited 20 0 3 Dyskeratosis_congenita,_digenic 5 low_record_burden_interpretation_limited low_record_burden_gene TXNDC15 mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 Meckel-Gruber syndrome MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 3 3 1.0000 condition_record_support_limited 20 0 3 Meckel-Gruber_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene TWIST2 mondo_mondo_0009203_medgen_c1744559_omim_227260_orphanet_1807_orphanet_398166 Focal facial dermal dysplasia type III MONDO:MONDO:0009203,MedGen:C1744559,OMIM:227260,Orphanet:1807,Orphanet:398166 3 3 1.0000 condition_record_support_limited 20 0 1 Focal_facial_dermal_dysplasia_type_III 7 low_record_burden_interpretation_limited low_record_burden_gene TWIST2 mondo_mondo_0008853_medgen_c1319466_omim_209885_orphanet_1231 Barber-Say syndrome MONDO:MONDO:0008853,MedGen:C1319466,OMIM:209885,Orphanet:1231 3 3 1.0000 condition_record_support_limited 20 0 0 Barber-Say_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene TUSC3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 19 low_record_burden_interpretation_limited low_record_burden_gene TULP1 tulp1_related_disorder TULP1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 TULP1-related_disorder 151 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUFM condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene TUFM mondo_mondo_0012534_medgen_c1857682_omim_610678_orphanet_254925 Combined oxidative phosphorylation defect type 4 MONDO:MONDO:0012534,MedGen:C1857682,OMIM:610678,Orphanet:254925 3 3 1.0000 condition_record_support_limited 20 0 0 Combined_oxidative_phosphorylation_defect_type_4 6 low_record_burden_interpretation_limited low_record_burden_gene TUBG1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene TUBB2B human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Lissencephaly Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 3 3 1.0000 condition_record_support_limited 20 0 2 Lissencephaly 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB2B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA4A mondo_mondo_0979230_medgen_c6012733_omim_621226 Spastic ataxia 11, autosomal dominant MONDO:MONDO:0979230,MedGen:C6012733,OMIM:621226 3 3 1.0000 condition_record_support_limited 20 0 1 Spastic_ataxia_11,_autosomal_dominant 19 low_record_burden_interpretation_limited low_record_burden_gene TUBA1A tuba1a_associated_tubulinopathy TUBA1A-associated tubulinopathy . 3 3 1.0000 condition_record_support_limited 20 0 3 TUBA1A-associated_tubulinopathy 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUB mondo_mondo_0014522_medgen_c4015424_omim_616188_orphanet_791 Retinal dystrophy and obesity MONDO:MONDO:0014522,MedGen:C4015424,OMIM:616188,Orphanet:791 3 3 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy_and_obesity 12 low_record_burden_interpretation_limited low_record_burden_gene TTR ttr_related_disorder TTR-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 TTR-related_disorder 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTR human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 3 3 1.0000 condition_record_support_limited 20 0 3 Cardiomyopathy 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTR human_phenotype_ontology_hp_0011034_mondo_mondo_0019065_medgen_c0002726_orphanet_69 Amyloidosis Human_Phenotype_Ontology:HP:0011034,MONDO:MONDO:0019065,MedGen:C0002726,Orphanet:69 3 3 1.0000 condition_record_support_limited 20 0 3 Amyloidosis 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTN human_phenotype_ontology_hp_0012817_medgen_c1839832 Noncompaction cardiomyopathy Human_Phenotype_Ontology:HP:0012817,MedGen:C1839832 3 3 1.0000 condition_record_support_limited 20 0 2 Noncompaction_cardiomyopathy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 Neuromuscular disease MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 3 3 1.0000 condition_record_support_limited 20 0 3 Neuromuscular_disease 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN mondo_mondo_0011076_medgen_c1832370_omim_601419_orphanet_363543_orphanet_98909 Desmin-related myofibrillar myopathy MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419,Orphanet:363543,Orphanet:98909 3 3 1.0000 condition_record_support_limited 20 0 2 Desmin-related_myofibrillar_myopathy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTLL5 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC7A ttc7a_related_disorder TTC7A-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 TTC7A-related_disorder 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC21B mondo_mondo_0009894_medgen_c0024507_omim_263520 Short-rib thoracic dysplasia 6 with or without polydactyly MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520 3 3 1.0000 condition_record_support_limited 20 0 1 Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC12 human_phenotype_ontology_hp_0012207_medgen_c4082176 Reduced sperm motility Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 3 3 1.0000 condition_record_support_limited 20 0 3 Reduced_sperm_motility 8 low_record_burden_interpretation_limited low_record_burden_gene TTC12 human_phenotype_ontology_hp_0012864_medgen_c0403824 Abnormal sperm morphology Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 3 3 1.0000 condition_record_support_limited 20 0 3 Abnormal_sperm_morphology 8 low_record_burden_interpretation_limited low_record_burden_gene TSR2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene TSPOAP1 mondo_mondo_0957539_medgen_c5830645_omim_620453 Dystonia 22, juvenile-onset MONDO:MONDO:0957539,MedGen:C5830645,OMIM:620453 3 3 1.0000 condition_record_support_limited 20 0 0 Dystonia_22,_juvenile-onset 5 low_record_burden_interpretation_limited low_record_burden_gene TSPAN12 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSPAN1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN54 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 mondo_mondo_0008196_medgen_c1868616_omim_168400_orphanet_2646 Parastremmatic dwarfism MONDO:MONDO:0008196,MedGen:C1868616,OMIM:168400,Orphanet:2646 3 3 1.0000 condition_record_support_limited 20 0 3 Parastremmatic_dwarfism 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV3 mondo_mondo_0014622_medgen_c4225339_omim_616400_orphanet_448264 Isolated focal non-epidermolytic palmoplantar keratoderma MONDO:MONDO:0014622,MedGen:C4225339,OMIM:616400,Orphanet:448264 3 3 1.0000 condition_record_support_limited 20 0 2 Isolated_focal_non-epidermolytic_palmoplantar_keratoderma 10 low_record_burden_interpretation_limited low_record_burden_gene TRPM4 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene TRPM3 mondo_mondo_0859365_medgen_c5830244_omim_620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures MONDO:MONDO:0859365,MedGen:C5830244,OMIM:620224 3 3 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_hypotonia,_dysmorphic_facies,_and_skeletal_anomalies,_with_or_without_seizures 8 low_record_burden_interpretation_limited low_record_burden_gene TRPM1 trpm1_related_disorder TRPM1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 TRPM1-related_disorder 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPC6 trpc6_related_disorder TRPC6-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 TRPC6-related_disorder 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRMU trmu_related_disorder TRMU-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 TRMU-related_disorder 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRMT5 mondo_mondo_0014684_medgen_c5567741_omim_616539_orphanet_477684 Combined oxidative phosphorylation defect type 26 MONDO:MONDO:0014684,MedGen:C5567741,OMIM:616539,Orphanet:477684 3 3 1.0000 condition_record_support_limited 20 0 0 Combined_oxidative_phosphorylation_defect_type_26 3 low_record_burden_interpretation_limited low_record_burden_gene TRMT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIP13 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene TRIP13 mondo_mondo_0033565_medgen_c5436599_omim_619011 Oocyte maturation defect 9 MONDO:MONDO:0033565,MedGen:C5436599,OMIM:619011 3 3 1.0000 condition_record_support_limited 20 0 0 Oocyte_maturation_defect_9 9 low_record_burden_interpretation_limited low_record_burden_gene TRIP13 mondo_mondo_0054736_medgen_c4539839_omim_617598 Mosaic variegated aneuploidy syndrome 3 MONDO:MONDO:0054736,MedGen:C4539839,OMIM:617598 3 3 1.0000 condition_record_support_limited 20 0 0 Mosaic_variegated_aneuploidy_syndrome_3 9 low_record_burden_interpretation_limited low_record_burden_gene TRIP12 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 98 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRIP11 mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 3 3 1.0000 condition_record_support_limited 20 0 0 Connective_tissue_disorder 87 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRIOBP mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 3 3 1.0000 condition_record_support_limited 20 0 3 Hearing_loss,_autosomal_recessive 100 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRIM32 mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 Autosomal recessive limb-girdle muscular dystrophy MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 3 3 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_limb-girdle_muscular_dystrophy 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIM28 mondo_mondo_0979876_medgen_cn379800_omim_621332 Wilms tumor 7 MONDO:MONDO:0979876,MedGen:CN379800,OMIM:621332 3 3 1.0000 condition_record_support_limited 20 0 0 Wilms_tumor_7 12 low_record_burden_interpretation_limited low_record_burden_gene TRAPPC9 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 3 3 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_nervous_system 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC11 mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 Autosomal recessive limb-girdle muscular dystrophy MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 3 3 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_limb-girdle_muscular_dystrophy 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAK1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene TRAIP mondo_mondo_0014767_medgen_c4225212_omim_616777_orphanet_808 Seckel syndrome 9 MONDO:MONDO:0014767,MedGen:C4225212,OMIM:616777,Orphanet:808 3 3 1.0000 condition_record_support_limited 20 0 1 Seckel_syndrome_9 13 low_record_burden_interpretation_limited low_record_burden_gene TPR condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene TPP1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 3 3 1.0000 condition_record_support_limited 20 0 3 Abnormality_of_the_nervous_system 221 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM4 mondo_mondo_0957580_medgen_c5882683_omim_620486 Bleeding disorder, platelet-type, 25 MONDO:MONDO:0957580,MedGen:C5882683,OMIM:620486 3 3 1.0000 condition_record_support_limited 20 0 1 Bleeding_disorder,_platelet-type,_25 3 low_record_burden_interpretation_limited low_record_burden_gene TPM2 tpm2_related_disorder TPM2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 TPM2-related_disorder 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM2 mondo_mondo_0800200_medgen_c5193002 Arthrogryposis, distal, type 2B4 MONDO:MONDO:0800200,MedGen:C5193002 3 3 1.0000 condition_record_support_limited 20 0 2 Arthrogryposis,_distal,_type_2B4 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM1 mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 Primary familial hypertrophic cardiomyopathy MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 3 3 1.0000 condition_record_support_limited 20 0 3 Primary_familial_hypertrophic_cardiomyopathy 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM1 mondo_mondo_0800346_medgen_c3808145 Left ventricular noncompaction 9 MONDO:MONDO:0800346,MedGen:C3808145 3 3 1.0000 condition_record_support_limited 20 0 3 Left_ventricular_noncompaction_9 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP63 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP53 poly_adp_ribose_polymerase_inhibitor_response Poly (ADP-Ribose) polymerase inhibitor response MedGen:CN322715 3 3 1.0000 condition_record_support_limited 20 0 3 Poly_(ADP-Ribose)_polymerase_inhibitor_response 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 mondo_mondo_0007576_medgen_c0546837_omim_133239_orphanet_99977 Malignant tumor of esophagus MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239,Orphanet:99977 3 3 1.0000 condition_record_support_limited 20 0 2 Malignant_tumor_of_esophagus 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Breast neoplasm Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 3 3 1.0000 condition_record_support_limited 20 0 3 Breast_neoplasm 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TOR1AIP1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 30 compact_adjacent_exon_block_opportunity local_compact_architecture TOR1A condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene TOP2B mondo_mondo_0012243_medgen_c1836437_omim_609296_orphanet_567502 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MONDO:MONDO:0012243,MedGen:C1836437,OMIM:609296,Orphanet:567502 3 3 1.0000 condition_record_support_limited 20 0 0 B-cell_immunodeficiency,_distal_limb_anomalies,_and_urogenital_malformations 4 low_record_burden_interpretation_limited low_record_burden_gene TOMM7 condition_not_provided condition not provided .|MedGen:CN169374 3 3 1.0000 condition_record_support_limited 20 3 2 See_cases|not_specified 3 low_record_burden_interpretation_limited low_record_burden_gene TOE1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 3 3 1.0000 condition_record_support_limited 20 0 3 Hereditary_cancer-predisposing_syndrome 38 compact_adjacent_exon_block_opportunity local_compact_architecture TNRC6B tnrc6b_related_disorder TNRC6B-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 TNRC6B-related_disorder 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TNPO3 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene TNNI3K mondo_mondo_0014500_medgen_cn221670_orphanet_436242 Atrial conduction disease MONDO:MONDO:0014500,MedGen:CN221670,Orphanet:436242 3 3 1.0000 condition_record_support_limited 20 0 3 Atrial_conduction_disease 5 low_record_burden_interpretation_limited low_record_burden_gene TNNC1 mondo_mondo_0013195_medgen_c2750472_omim_613243 Hypertrophic cardiomyopathy 13 MONDO:MONDO:0013195,MedGen:C2750472,OMIM:613243 3 3 1.0000 condition_record_support_limited 20 0 3 Hypertrophic_cardiomyopathy_13 12 low_record_burden_interpretation_limited low_record_burden_gene TNFRSF1A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNFRSF1A mondo_mondo_0019751_medgen_c3890737_orphanet_93665 Autoinflammatory syndrome MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 3 3 1.0000 condition_record_support_limited 20 0 2 Autoinflammatory_syndrome 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNFRSF11A mondo_mondo_0011183_medgen_c4085251_omim_602080 Paget disease of bone 2, early-onset MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080 3 3 1.0000 condition_record_support_limited 20 0 2 Paget_disease_of_bone_2,_early-onset 32 compact_adjacent_exon_block_opportunity local_compact_architecture TNC mondo_mondo_0014283_medgen_c3810170_omim_615629_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 56 MONDO:MONDO:0014283,MedGen:C3810170,OMIM:615629,Orphanet:90635 3 3 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_nonsyndromic_hearing_loss_56 5 low_record_burden_interpretation_limited low_record_burden_gene TMPRSS3 monogenic_hearing_loss Monogenic hearing loss . 3 3 1.0000 condition_record_support_limited 20 0 3 Monogenic_hearing_loss 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM98 mondo_mondo_0014426_medgen_c4014848_omim_615972_orphanet_35612 Nanophthalmos 4 MONDO:MONDO:0014426,MedGen:C4014848,OMIM:615972,Orphanet:35612 3 3 1.0000 condition_record_support_limited 20 0 0 Nanophthalmos_4 3 low_record_burden_interpretation_limited low_record_burden_gene TMEM94 tmem94_related_disorder TMEM94-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 TMEM94-related_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM94 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 3 3 1.0000 condition_record_support_limited 20 0 3 Nystagmus 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0001320_medgen_c1840379 Cerebellar vermis hypoplasia Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 3 3 1.0000 condition_record_support_limited 20 0 3 Cerebellar_vermis_hypoplasia 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM63A human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Leukodystrophy Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 3 3 1.0000 condition_record_support_limited 20 0 3 Leukodystrophy 9 low_record_burden_interpretation_limited low_record_burden_gene TMEM240 mondo_mondo_0011833_medgen_c1843891_omim_607454_orphanet_98773 Spinocerebellar ataxia type 21 MONDO:MONDO:0011833,MedGen:C1843891,OMIM:607454,Orphanet:98773 3 3 1.0000 condition_record_support_limited 20 0 1 Spinocerebellar_ataxia_type_21 3 low_record_burden_interpretation_limited low_record_burden_gene TMEM218 mondo_mondo_0030454_medgen_c5562000_omim_619562 Joubert syndrome 39 MONDO:MONDO:0030454,MedGen:C5562000,OMIM:619562 3 3 1.0000 condition_record_support_limited 20 0 2 Joubert_syndrome_39 4 low_record_burden_interpretation_limited low_record_burden_gene TMEM216 tmem216_related_disorder TMEM216-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 TMEM216-related_disorder 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM147 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene TMEM126A mondo_mondo_0013069_medgen_c2751812_omim_612989_orphanet_227976_orphanet_98676 Autosomal recessive optic atrophy, OPA7 type MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989,Orphanet:227976,Orphanet:98676 3 3 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_optic_atrophy,_OPA7_type 10 low_record_burden_interpretation_limited low_record_burden_gene TMEM107 mondo_mondo_0033045_medgen_c4539729_omim_617563 Orofaciodigital syndrome 16 MONDO:MONDO:0033045,MedGen:C4539729,OMIM:617563 3 3 1.0000 condition_record_support_limited 20 0 3 Orofaciodigital_syndrome_16 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMCO6 mondo_mondo_0032618_medgen_c4748770_omim_618235 Mitochondrial complex I deficiency, nuclear type 13 MONDO:MONDO:0032618,MedGen:C4748770,OMIM:618235 3 3 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency,_nuclear_type_13 3 low_record_burden_interpretation_limited low_record_burden_gene TMCO1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 16 low_record_burden_interpretation_limited low_record_burden_gene TMC6 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMC1 tmc1_related_disorder TMC1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 TMC1-related_disorder 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TM2D3 mondo_mondo_0980704_medgen_cn380019_omim_621379 Neurocardiorenal malformation syndrome MONDO:MONDO:0980704,MedGen:CN380019,OMIM:621379 3 3 1.0000 condition_record_support_limited 20 0 3 Neurocardiorenal_malformation_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene TLR7 mondo_mondo_0026767_medgen_c5435745_omim_301051 Immunodeficiency 74, COVID-19-related, X-linked MONDO:MONDO:0026767,MedGen:C5435745,OMIM:301051 3 3 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_74,_COVID-19-related,_X-linked 6 low_record_burden_interpretation_limited low_record_burden_gene TLK2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TLE6 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene TINF2 mondo_mondo_0009990_medgen_c1327916_omim_268130_orphanet_3088 Revesz syndrome MONDO:MONDO:0009990,MedGen:C1327916,OMIM:268130,Orphanet:3088 3 3 1.0000 condition_record_support_limited 20 0 2 Revesz_syndrome 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture THRA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 19 low_record_burden_interpretation_limited low_record_burden_gene THPO mondo_mondo_0957572_medgen_c5882678_omim_620478 Thrombocytopenia 9 MONDO:MONDO:0957572,MedGen:C5882678,OMIM:620478 3 3 1.0000 condition_record_support_limited 20 0 2 Thrombocytopenia_9 17 low_record_burden_interpretation_limited low_record_burden_gene THPO human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 3 3 1.0000 condition_record_support_limited 20 0 2 Thrombocytopenia 17 low_record_burden_interpretation_limited low_record_burden_gene THBD mondo_mondo_0013044_medgen_c2752036_omim_612926 Atypical hemolytic-uremic syndrome with thrombomodulin anomaly MONDO:MONDO:0013044,MedGen:C2752036,OMIM:612926 3 3 1.0000 condition_record_support_limited 20 0 3 Atypical_hemolytic-uremic_syndrome_with_thrombomodulin_anomaly 8 low_record_burden_interpretation_limited low_record_burden_gene TGFBR2 tgfbr2_related_disorder TGFBR2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 TGFBR2-related_disorder 130 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBI mondo_mondo_0007380_medgen_c1690006_omim_122200_orphanet_98964 Lattice corneal dystrophy Type I MONDO:MONDO:0007380,MedGen:C1690006,OMIM:122200,Orphanet:98964 3 3 1.0000 condition_record_support_limited 20 0 3 Lattice_corneal_dystrophy_Type_I 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBI mondo_mondo_0012044_medgen_c1837974_omim_608471_orphanet_98964 Corneal dystrophy, lattice type 3A MONDO:MONDO:0012044,MedGen:C1837974,OMIM:608471,Orphanet:98964 3 3 1.0000 condition_record_support_limited 20 0 2 Corneal_dystrophy,_lattice_type_3A 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFB2 tgfb2_related_disorder TGFB2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 TGFB2-related_disorder 112 compact_adjacent_exon_block_opportunity local_compact_architecture TGFB1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene TGFB1 mondo_mondo_0016542_medgen_c4749850_orphanet_238569 IL10-related early-onset inflammatory bowel disease MONDO:MONDO:0016542,MedGen:C4749850,Orphanet:238569 3 3 1.0000 condition_record_support_limited 20 0 3 IL10-related_early-onset_inflammatory_bowel_disease 11 low_record_burden_interpretation_limited low_record_burden_gene TGFB1 human_phenotype_ontology_hp_0001298_medgen_c0085584 Encephalopathy Human_Phenotype_Ontology:HP:0001298,MedGen:C0085584 3 3 1.0000 condition_record_support_limited 20 0 3 Encephalopathy 11 low_record_burden_interpretation_limited low_record_burden_gene TGDS condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene TEX9 mns1_related_disorder MNS1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 MNS1-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene TEX15 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 22 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TEX14 mondo_mondo_0054727_medgen_c4540185_omim_617707 Spermatogenic failure 23 MONDO:MONDO:0054727,MedGen:C4540185,OMIM:617707 3 3 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_23 10 low_record_burden_interpretation_limited low_record_burden_gene TERT tert_related_disorder TERT-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 TERT-related_disorder 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERT human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Acute myeloid leukemia Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 3 3 1.0000 condition_record_support_limited 20 0 2 Acute_myeloid_leukemia 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERB1 mondo_mondo_0030493_medgen_c5562035_omim_619646 Spermatogenic failure 60 MONDO:MONDO:0030493,MedGen:C5562035,OMIM:619646 3 3 1.0000 condition_record_support_limited 20 0 1 Spermatogenic_failure_60 4 low_record_burden_interpretation_limited low_record_burden_gene TENT5A mondo_mondo_0044329_medgen_c4693736_omim_617952 Osteogenesis imperfecta, type 18 MONDO:MONDO:0044329,MedGen:C4693736,OMIM:617952 3 3 1.0000 condition_record_support_limited 20 0 0 Osteogenesis_imperfecta,_type_18 4 low_record_burden_interpretation_limited low_record_burden_gene TEKT3 mondo_mondo_0859522_medgen_c5830329_omim_620277 Spermatogenic failure 81 MONDO:MONDO:0859522,MedGen:C5830329,OMIM:620277 3 3 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_81 3 low_record_burden_interpretation_limited low_record_burden_gene TECTA human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 3 3 1.0000 condition_record_support_limited 20 0 2 Hearing_impairment 123 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TECTA medgen_c4016799 Deafness, neurosensory autosomal recessive 21 MedGen:C4016799 3 3 1.0000 condition_record_support_limited 20 0 2 Deafness,_neurosensory_autosomal_recessive_21 123 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TDRD9 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene TCTN2 mondo_mondo_0012848_medgen_c2676790_omim_612284_orphanet_564 Meckel syndrome, type 6 MONDO:MONDO:0012848,MedGen:C2676790,OMIM:612284,Orphanet:564 3 3 1.0000 condition_record_support_limited 20 0 1 Meckel_syndrome,_type_6 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCTN1 tctn1_related_disorder TCTN1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 TCTN1-related_disorder 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCHH mondo_mondo_0014990_medgen_c4310648_omim_617252 Uncombable hair syndrome 3 MONDO:MONDO:0014990,MedGen:C4310648,OMIM:617252 3 3 1.0000 condition_record_support_limited 20 0 0 Uncombable_hair_syndrome_3 3 low_record_burden_interpretation_limited low_record_burden_gene TCF3 mondo_mondo_0859234_medgen_c5676958_omim_619824 Agammaglobulinemia 8b, autosomal recessive MONDO:MONDO:0859234,MedGen:C5676958,OMIM:619824 3 3 1.0000 condition_record_support_limited 20 0 0 Agammaglobulinemia_8b,_autosomal_recessive 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF20 tcf20_related_disorder TCF20-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 TCF20-related_disorder 139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCF20 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 3 3 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_delay 139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCF20 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCF12 human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 3 3 1.0000 condition_record_support_limited 20 0 1 Craniosynostosis_syndrome 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCAP human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 3 3 1.0000 condition_record_support_limited 20 0 3 Abnormality_of_the_musculature 35 compact_adjacent_exon_block_opportunity local_compact_architecture TBX6 tbx6_related_disorder TBX6-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 TBX6-related_disorder 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX6 human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 3 3 1.0000 condition_record_support_limited 20 0 0 Scoliosis 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX3 tbx3_related_disorder TBX3-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 TBX3-related_disorder 37 compact_adjacent_exon_block_opportunity local_compact_architecture TBX22 mondo_mondo_0010560_medgen_c1844830_omim_303400_orphanet_324601 Cleft palate with or without ankyloglossia, X-linked MONDO:MONDO:0010560,MedGen:C1844830,OMIM:303400,Orphanet:324601 3 3 1.0000 condition_record_support_limited 20 0 1 Cleft_palate_with_or_without_ankyloglossia,_X-linked 15 low_record_burden_interpretation_limited low_record_burden_gene TBX2 mondo_mondo_0032607_medgen_c4748741_omim_618223 Vertebral anomalies and variable endocrine and T-cell dysfunction MONDO:MONDO:0032607,MedGen:C4748741,OMIM:618223 3 3 1.0000 condition_record_support_limited 20 0 1 Vertebral_anomalies_and_variable_endocrine_and_T-cell_dysfunction 4 low_record_burden_interpretation_limited low_record_burden_gene TBX1 tbx1_related_disorder TBX1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 TBX1-related_disorder 56 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 3 3 1.0000 condition_record_support_limited 20 0 3 Seizure 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 human_phenotype_ontology_hp_0010862_medgen_c4023681 Delayed fine motor development Human_Phenotype_Ontology:HP:0010862,MedGen:C4023681 3 3 1.0000 condition_record_support_limited 20 0 3 Delayed_fine_motor_development 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 human_phenotype_ontology_hp_0000718_human_phenotype_ontology_hp_0006919_medgen_c0001807 Aggressive behavior Human_Phenotype_Ontology:HP:0000718,Human_Phenotype_Ontology:HP:0006919,MedGen:C0001807 3 3 1.0000 condition_record_support_limited 20 0 3 Aggressive_behavior 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBL1XR1 tbl1xr1_related_neurodevelopmental_disorder TBL1XR1-related neurodevelopmental disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 TBL1XR1-related_neurodevelopmental_disorder 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBK1 mondo_mondo_0971173_medgen_c5935634_omim_620880 Autoinflammation with arthritis and vasculitis MONDO:MONDO:0971173,MedGen:C5935634,OMIM:620880 3 3 1.0000 condition_record_support_limited 20 0 1 Autoinflammation_with_arthritis_and_vasculitis 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBK1 human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Amyotrophic lateral sclerosis Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 3 3 1.0000 condition_record_support_limited 20 0 3 Amyotrophic_lateral_sclerosis 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCK mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D7 mondo_mondo_0009544_medgen_c3806412_omim_248000 Macrocephaly/megalencephaly syndrome, autosomal recessive MONDO:MONDO:0009544,MedGen:C3806412,OMIM:248000 3 3 1.0000 condition_record_support_limited 20 0 1 Macrocephaly/megalencephaly_syndrome,_autosomal_recessive 7 low_record_burden_interpretation_limited low_record_burden_gene TBC1D2B tbc1d2b_related_disorder TBC1D2B-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 TBC1D2B-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene TBC1D24 caused_by_mutation_in_the_tbc1_domain_family_member_24 Caused by mutation in the TBC1 domain family, member 24 . 3 3 1.0000 condition_record_support_limited 20 0 3 Caused_by_mutation_in_the_TBC1_domain_family,_member_24 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D23 mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 Pontoneocerebellar hypoplasia MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 3 3 1.0000 condition_record_support_limited 20 0 3 Pontoneocerebellar_hypoplasia 14 low_record_burden_interpretation_limited low_record_burden_gene TAT condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAP1 mondo_mondo_0971006_medgen_cn377827_omim_604571 MHC class I deficiency 1 MONDO:MONDO:0971006,MedGen:CN377827,OMIM:604571 3 3 1.0000 condition_record_support_limited 20 0 1 MHC_class_I_deficiency_1 29 compact_adjacent_exon_block_opportunity local_compact_architecture TANGO2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 3 3 1.0000 condition_record_support_limited 20 0 3 Seizure 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TANGO2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TANGO2 human_phenotype_ontology_hp_0003752_medgen_c4025572 Episodic flaccid weakness Human_Phenotype_Ontology:HP:0003752,MedGen:C4025572 3 3 1.0000 condition_record_support_limited 20 0 3 Episodic_flaccid_weakness 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TANGO2 efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 Cardiac arrhythmia EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 3 3 1.0000 condition_record_support_limited 20 0 3 Cardiac_arrhythmia 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TANC2 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 3 3 1.0000 condition_record_support_limited 20 0 3 Autism_spectrum_disorder 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TAFAZZIN tafazzin_related_disorder TAFAZZIN-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 TAFAZZIN-related_disorder 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAF2 mondo_mondo_0014273_medgen_c3810080_omim_615599_orphanet_397951 Microcephaly-thin corpus callosum-intellectual disability syndrome MONDO:MONDO:0014273,MedGen:C3810080,OMIM:615599,Orphanet:397951 3 3 1.0000 condition_record_support_limited 20 0 0 Microcephaly-thin_corpus_callosum-intellectual_disability_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene TAF13 mondo_mondo_0044313_medgen_c4479476_omim_617432 Intellectual disability, autosomal recessive 60 MONDO:MONDO:0044313,MedGen:C4479476,OMIM:617432 3 3 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_autosomal_recessive_60 3 low_record_burden_interpretation_limited low_record_burden_gene TAF1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TACR3 tacr3_related_disorder TACR3-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 TACR3-related_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene TACR3 human_phenotype_ontology_hp_0000044_human_phenotype_ontology_hp_0003335_human_phenotype_ontology_hp_0008224_mondo_mondo_0018555_medgen_c0271623_omim_ps147950_orphanet_432 Hypogonadotropic hypogonadism Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432 3 3 1.0000 condition_record_support_limited 20 0 2 Hypogonadotropic_hypogonadism 18 low_record_burden_interpretation_limited low_record_burden_gene TACO1 mondo_mondo_0700250_medgen_c5435656_omim_220110 Mitochondrial complex IV deficiency, nuclear type 1 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 3 3 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_IV_deficiency,_nuclear_type_1 16 low_record_burden_interpretation_limited low_record_burden_gene SZT2 mondo_mondo_0007295_medgen_c0376532_orphanet_1945 Self-limited epilepsy with centrotemporal spikes MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 3 3 1.0000 condition_record_support_limited 20 0 0 Self-limited_epilepsy_with_centrotemporal_spikes 188 large_gene_or_donor_burden_stress_case donor_burden_stress SYT1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYP condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene SYNJ1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNCRIP condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene SYN1 syn1_related_disorder SYN1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 SYN1-related_disorder 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYK human_phenotype_ontology_hp_0000988_medgen_c5779628 Skin rash Human_Phenotype_Ontology:HP:0000988,MedGen:C5779628 3 3 1.0000 condition_record_support_limited 20 0 3 Skin_rash 3 low_record_burden_interpretation_limited low_record_burden_gene SYK human_phenotype_ontology_hp_0002721_human_phenotype_ontology_hp_0005362_human_phenotype_ontology_hp_0005371_mondo_mondo_0021094_medgen_c0021051_omim_ps300755 Immunodeficiency Human_Phenotype_Ontology:HP:0002721,Human_Phenotype_Ontology:HP:0005362,Human_Phenotype_Ontology:HP:0005371,MONDO:MONDO:0021094,MedGen:C0021051,OMIM:PS300755 3 3 1.0000 condition_record_support_limited 20 0 3 Immunodeficiency 3 low_record_burden_interpretation_limited low_record_burden_gene SYK human_phenotype_ontology_hp_0004313_human_phenotype_ontology_hp_0010703_medgen_c4048270 Decreased circulating immunoglobulin concentration Human_Phenotype_Ontology:HP:0004313,Human_Phenotype_Ontology:HP:0010703,MedGen:C4048270 3 3 1.0000 condition_record_support_limited 20 0 3 Decreased_circulating_immunoglobulin_concentration 3 low_record_burden_interpretation_limited low_record_burden_gene SYK human_phenotype_ontology_hp_0002583_mondo_mondo_0005292_medgen_c0009319 Colitis Human_Phenotype_Ontology:HP:0002583,MONDO:MONDO:0005292,MedGen:C0009319 3 3 1.0000 condition_record_support_limited 20 0 3 Colitis 3 low_record_burden_interpretation_limited low_record_burden_gene SYK human_phenotype_ontology_hp_0001369_mondo_mondo_0005578_medgen_c0003864 Arthritis Human_Phenotype_Ontology:HP:0001369,MONDO:MONDO:0005578,MedGen:C0003864 3 3 1.0000 condition_record_support_limited 20 0 3 Arthritis 3 low_record_burden_interpretation_limited low_record_burden_gene SYCP3 mondo_mondo_0010052_medgen_c0232981_omim_270960 Spermatogenic failure 4 MONDO:MONDO:0010052,MedGen:C0232981,OMIM:270960 3 3 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_4 3 low_record_burden_interpretation_limited low_record_burden_gene SYCP2 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 3 3 1.0000 condition_record_support_limited 20 0 3 Non-obstructive_azoospermia 6 low_record_burden_interpretation_limited low_record_burden_gene SYCE2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene SYCE1 mondo_mondo_0014844_medgen_c4310782_omim_616947 Premature ovarian failure 12 MONDO:MONDO:0014844,MedGen:C4310782,OMIM:616947 3 3 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure_12 7 low_record_burden_interpretation_limited low_record_burden_gene SV2A mondo_mondo_0958330_medgen_c5935597_omim_620772 Developmental and epileptic encephalopathy 113 MONDO:MONDO:0958330,MedGen:C5935597,OMIM:620772 3 3 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy_113 3 low_record_burden_interpretation_limited low_record_burden_gene SULT2B1 mondo_mondo_0009439_medgen_c3888093_omim_242100_orphanet_281122_orphanet_79394 Autosomal recessive congenital ichthyosis 2 MONDO:MONDO:0009439,MedGen:C3888093,OMIM:242100,Orphanet:281122,Orphanet:79394 3 3 1.0000 condition_record_support_limited 20 0 3 Autosomal_recessive_congenital_ichthyosis_2 7 low_record_burden_interpretation_limited low_record_burden_gene SUFU sufu_related_disorder SUFU-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 SUFU-related_disorder 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP2 mondo_mondo_0700250_medgen_c5435656_omim_220110 Mitochondrial complex IV deficiency, nuclear type 1 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 3 3 1.0000 condition_record_support_limited 20 0 3 Mitochondrial_complex_IV_deficiency,_nuclear_type_1 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP2 hemophagocytic_lymphohistiocytosis_familial_5_without_microvillus_inclusion_disease HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITHOUT MICROVILLUS INCLUSION DISEASE . 3 3 1.0000 condition_record_support_limited 20 0 1 HEMOPHAGOCYTIC_LYMPHOHISTIOCYTOSIS,_FAMILIAL,_5,_WITHOUT_MICROVILLUS_INCLUSION_DISEASE 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 stxbp1_related_disorder STXBP1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 STXBP1-related_disorder 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 3 3 1.0000 condition_record_support_limited 20 0 3 Global_developmental_delay 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STX1A human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 3 3 1.0000 condition_record_support_limited 20 0 3 Seizure 6 low_record_burden_interpretation_limited low_record_burden_gene STX1A human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 3 3 1.0000 condition_record_support_limited 20 0 3 Autism 6 low_record_burden_interpretation_limited low_record_burden_gene STX16 mondo_mondo_0011301_medgen_c1864100_omim_603233_orphanet_94089 Pseudohypoparathyroidism type 1B MONDO:MONDO:0011301,MedGen:C1864100,OMIM:603233,Orphanet:94089 3 3 1.0000 condition_record_support_limited 20 0 0 Pseudohypoparathyroidism_type_1B 3 low_record_burden_interpretation_limited low_record_burden_gene STS condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene STRA6 medgen_c5680330_orphanet_98555 Anophthalmia-microphthalmia syndrome MedGen:C5680330,Orphanet:98555 3 3 1.0000 condition_record_support_limited 20 0 0 Anophthalmia-microphthalmia_syndrome 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STK36 mondo_mondo_0030332_medgen_c5543646_omim_619436 Ciliary dyskinesia, primary, 46 MONDO:MONDO:0030332,MedGen:C5543646,OMIM:619436 3 3 1.0000 condition_record_support_limited 20 0 0 Ciliary_dyskinesia,_primary,_46 4 low_record_burden_interpretation_limited low_record_burden_gene STING1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene STAT5B mondo_mondo_0100219_medgen_c5436546_omim_618985 Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant MONDO:MONDO:0100219,MedGen:C5436546,OMIM:618985 3 3 1.0000 condition_record_support_limited 20 0 2 Growth_hormone_insensitivity_syndrome_with_immune_dysregulation_2,_autosomal_dominant 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAT3 stat3_related_disorder STAT3-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 STAT3-related_disorder 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAR star_related_disorder STAR-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 STAR-related_disorder 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAG3 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 3 3 1.0000 condition_record_support_limited 20 0 3 Non-obstructive_azoospermia 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAG2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ST3GAL3 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SRY condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 42 single_exon_hotspot_opportunity local_compact_architecture SRRM2 srrm2_related_disorder SRRM2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 SRRM2-related_disorder 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SRP54 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene SRP54 mondo_mondo_0044204_medgen_c4692625_omim_260400 Shwachman-Diamond syndrome 1 MONDO:MONDO:0044204,MedGen:C4692625,OMIM:260400 3 3 1.0000 condition_record_support_limited 20 0 3 Shwachman-Diamond_syndrome_1 7 low_record_burden_interpretation_limited low_record_burden_gene SRFBP1 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 3 3 1.0000 condition_record_support_limited 20 0 3 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SREBF1 mondo_mondo_0100221_medgen_c5436607_omim_619016 IFAP syndrome 2 MONDO:MONDO:0100221,MedGen:C5436607,OMIM:619016 3 3 1.0000 condition_record_support_limited 20 0 3 IFAP_syndrome_2 6 low_record_burden_interpretation_limited low_record_burden_gene SREBF1 mondo_mondo_0100213_medgen_c5399971_omim_308205_orphanet_2273_orphanet_85284 IFAP syndrome 1, with or without BRESHECK syndrome MONDO:MONDO:0100213,MedGen:C5399971,OMIM:308205,Orphanet:2273,Orphanet:85284 3 3 1.0000 condition_record_support_limited 20 0 3 IFAP_syndrome_1,_with_or_without_BRESHECK_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene SRD5A3 mondo_mondo_0015286_medgen_c0282577_orphanet_137 Congenital disorder of glycosylation MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137 3 3 1.0000 condition_record_support_limited 20 0 2 Congenital_disorder_of_glycosylation 23 compact_adjacent_exon_block_opportunity local_compact_architecture SRD5A3 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 3 3 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_nervous_system 23 compact_adjacent_exon_block_opportunity local_compact_architecture SPTBN1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 59 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTAN1 mondo_mondo_0957813_medgen_c5882701_omim_620538 Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia MONDO:MONDO:0957813,MedGen:C5882701,OMIM:620538 3 3 1.0000 condition_record_support_limited 20 0 2 Spastic_paraplegia_91,_autosomal_dominant,_with_or_without_cerebellar_ataxia 131 large_gene_or_donor_burden_stress_case donor_burden_stress SPRTN mondo_mondo_0014527_medgen_c4015461_omim_616200_orphanet_435953 Progeroid features-hepatocellular carcinoma predisposition syndrome MONDO:MONDO:0014527,MedGen:C4015461,OMIM:616200,Orphanet:435953 3 3 1.0000 condition_record_support_limited 20 0 1 Progeroid_features-hepatocellular_carcinoma_predisposition_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene SPRED2 mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 Noonan syndrome MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 3 3 1.0000 condition_record_support_limited 20 0 3 Noonan_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene SPOP mondo_mondo_0032942_medgen_c5394218_omim_618828_orphanet_662179 Neurodevelopmental disorder with microcephaly and dysmorphic facies MONDO:MONDO:0032942,MedGen:C5394218,OMIM:618828,Orphanet:662179 3 3 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_microcephaly_and_dysmorphic_facies 12 low_record_burden_interpretation_limited low_record_burden_gene SPOCD1 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 3 3 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 3 low_record_burden_interpretation_limited low_record_burden_gene SPG7 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 3 3 1.0000 condition_record_support_limited 20 0 3 Spastic_ataxia 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG7 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPEN spen_related_disorder SPEN-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 SPEN-related_disorder 101 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPATA7 spata7_related_disorder SPATA7-related disorder MedGen:CN239422 3 3 1.0000 condition_record_support_limited 20 0 3 SPATA7-related_disorder 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPATA22 mondo_mondo_0975843_medgen_c5975510_omim_621002 Premature ovarian failure 25 MONDO:MONDO:0975843,MedGen:C5975510,OMIM:621002 3 3 1.0000 condition_record_support_limited 20 0 1 Premature_ovarian_failure_25 186 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SPAST human_phenotype_ontology_hp_0002313_human_phenotype_ontology_hp_0007191_medgen_c0037771 Spastic paraparesis Human_Phenotype_Ontology:HP:0002313,Human_Phenotype_Ontology:HP:0007191,MedGen:C0037771 3 3 1.0000 condition_record_support_limited 20 0 2 Spastic_paraparesis 615 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPART human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 3 3 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_delay 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPARC mondo_mondo_0014672_medgen_c4225301_omim_616507_orphanet_666 Osteogenesis imperfecta type 17 MONDO:MONDO:0014672,MedGen:C4225301,OMIM:616507,Orphanet:666 3 3 1.0000 condition_record_support_limited 20 0 0 Osteogenesis_imperfecta_type_17 4 low_record_burden_interpretation_limited low_record_burden_gene SPAG1 spag1_related_disorder SPAG1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 SPAG1-related_disorder 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPAG1 mondo_mondo_0014002_medgen_c3554306_omim_615005_orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy 5 MONDO:MONDO:0014002,MedGen:C3554306,OMIM:615005,Orphanet:98784 3 3 1.0000 condition_record_support_limited 20 0 2 Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SP7 mondo_mondo_0013460_medgen_c3151433_omim_613849_orphanet_666 Osteogenesis imperfecta type 12 MONDO:MONDO:0013460,MedGen:C3151433,OMIM:613849,Orphanet:666 3 3 1.0000 condition_record_support_limited 20 0 1 Osteogenesis_imperfecta_type_12 3 low_record_burden_interpretation_limited low_record_burden_gene SOX9 medgen_c1861923 ACAMPOMELIC CAMPOMELIC DYSPLASIA MedGen:C1861923 3 3 1.0000 condition_record_support_limited 20 0 2 ACAMPOMELIC_CAMPOMELIC_DYSPLASIA 134 compact_adjacent_exon_block_opportunity local_compact_architecture SOX6 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 102 single_exon_hotspot_opportunity local_compact_architecture SOX18 mondo_mondo_0019073_medgen_c4317151_omim_137940_orphanet_69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome MONDO:MONDO:0019073,MedGen:C4317151,OMIM:137940,Orphanet:69735 3 3 1.0000 condition_record_support_limited 20 0 2 Hypotrichosis-lymphedema-telangiectasia-renal_defect_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene SOX17 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene SOX11 sox11_related_disorder SOX11-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 SOX11-related_disorder 84 single_exon_hotspot_opportunity local_compact_architecture SOX10 waardenburg_syndrome_type_2e_with_neurologic_involvement Waardenburg syndrome type 2E, with neurologic involvement MedGen:CN069053 3 3 1.0000 condition_record_support_limited 20 0 1 Waardenburg_syndrome_type_2E,_with_neurologic_involvement 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX10 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 3 3 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOS2 mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 3 3 1.0000 condition_record_support_limited 20 0 3 RASopathy 12 low_record_burden_interpretation_limited low_record_burden_gene SON son_related_disorder SON-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 SON-related_disorder 148 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SON human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 148 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SOHLH1 mondo_mondo_0054666_medgen_c4540141_omim_617690 Ovarian dysgenesis 5 MONDO:MONDO:0054666,MedGen:C4540141,OMIM:617690 3 3 1.0000 condition_record_support_limited 20 0 2 Ovarian_dysgenesis_5 5 low_record_burden_interpretation_limited low_record_burden_gene SOCS1 autoinflammatory_syndrome_familial_without_immunodeficiency AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITHOUT IMMUNODEFICIENCY . 3 3 1.0000 condition_record_support_limited 20 0 3 AUTOINFLAMMATORY_SYNDROME,_FAMILIAL,_WITHOUT_IMMUNODEFICIENCY 13 low_record_burden_interpretation_limited low_record_burden_gene SNX27 condition_not_provided condition not provided .|MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 See_cases|not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene SNRPE mondo_mondo_0014027_medgen_c3554409_omim_615059_orphanet_55654 Hypotrichosis 11 MONDO:MONDO:0014027,MedGen:C3554409,OMIM:615059,Orphanet:55654 3 3 1.0000 condition_record_support_limited 20 0 0 Hypotrichosis_11 4 low_record_burden_interpretation_limited low_record_burden_gene SNRPB condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene SNF8 mondo_mondo_0968947_medgen_c5935605_omim_620784 Neurodevelopmental disorder plus optic atrophy MONDO:MONDO:0968947,MedGen:C5935605,OMIM:620784 3 3 1.0000 condition_record_support_limited 20 0 3 Neurodevelopmental_disorder_plus_optic_atrophy 6 low_record_burden_interpretation_limited low_record_burden_gene SNCA mondo_mondo_0007488_medgen_c0752347_omim_127750 Lewy body dementia MONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750 3 3 1.0000 condition_record_support_limited 20 0 3 Lewy_body_dementia 5 low_record_burden_interpretation_limited low_record_burden_gene SMS sms_related_disorder SMS-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 SMS-related_disorder 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMOC2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene SMG9 mondo_mondo_0014833_medgen_c4310793_omim_616920 Heart and brain malformation syndrome MONDO:MONDO:0014833,MedGen:C4310793,OMIM:616920 3 3 1.0000 condition_record_support_limited 20 0 2 Heart_and_brain_malformation_syndrome 12 low_record_burden_interpretation_limited low_record_burden_gene SMC5 mondo_mondo_0859576_medgen_c5774282_omim_620185 Atelis syndrome 2 MONDO:MONDO:0859576,MedGen:C5774282,OMIM:620185 3 3 1.0000 condition_record_support_limited 20 0 0 Atelis_syndrome_2 3 low_record_burden_interpretation_limited low_record_burden_gene SMC3 mondo_mondo_0016033_medgen_c0270972_omim_ps122470_orphanet_199 De Lange syndrome MONDO:MONDO:0016033,MedGen:C0270972,OMIM:PS122470,Orphanet:199 3 3 1.0000 condition_record_support_limited 20 0 2 De_Lange_syndrome 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCD2 mondo_mondo_0044207_medgen_c4551556_omim_245480_orphanet_169142 Specific granule deficiency 1 MONDO:MONDO:0044207,MedGen:C4551556,OMIM:245480,Orphanet:169142 3 3 1.0000 condition_record_support_limited 20 0 3 Specific_granule_deficiency_1 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCD2 mondo_mondo_0028226_medgen_c5447331_orphanet_439849 Autosomal recessive severe congenital neutropenia MONDO:MONDO:0028226,MedGen:C5447331,Orphanet:439849 3 3 1.0000 condition_record_support_limited 20 0 3 Autosomal_recessive_severe_congenital_neutropenia 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCC2 smarcc2_related_bafopathy SMARCC2-related BAFopathy . 3 3 1.0000 condition_record_support_limited 20 0 0 SMARCC2-related_BAFopathy 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCC1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene SMARCB1 mondo_mondo_0008075_mesh_c536641_medgen_c1335929_omim_ps162091_orphanet_93921 Schwannomatosis MONDO:MONDO:0008075,MeSH:C536641,MedGen:C1335929,OMIM:PS162091,Orphanet:93921 3 3 1.0000 condition_record_support_limited 20 0 1 Schwannomatosis 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCB1 smarcb1_related_bafopathy SMARCB1-related BAFopathy . 3 3 1.0000 condition_record_support_limited 20 0 3 SMARCB1-related_BAFopathy 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCAD1 mondo_mondo_0008416_medgen_c0406767_omim_181600_orphanet_384 Keratoderma with scleroatrophy of the extremities MONDO:MONDO:0008416,MedGen:C0406767,OMIM:181600,Orphanet:384 3 3 1.0000 condition_record_support_limited 20 0 2 Keratoderma_with_scleroatrophy_of_the_extremities 7 low_record_burden_interpretation_limited low_record_burden_gene SMARCA4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 321 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD9 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD6 smad6_related_disorder SMAD6-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 SMAD6-related_disorder 82 compact_adjacent_exon_block_opportunity local_compact_architecture SMAD6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 82 compact_adjacent_exon_block_opportunity local_compact_architecture SMAD3 familial_aortopathy Familial aortopathy MedGen:CN078214 3 3 1.0000 condition_record_support_limited 20 0 2 Familial_aortopathy 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLITRK6 mondo_mondo_0009082_medgen_c3806275_omim_221200_orphanet_363396 High myopia-sensorineural deafness syndrome MONDO:MONDO:0009082,MedGen:C3806275,OMIM:221200,Orphanet:363396 3 3 1.0000 condition_record_support_limited 20 0 1 High_myopia-sensorineural_deafness_syndrome 9 low_record_burden_interpretation_limited low_record_burden_gene SLFN14 mondo_mondo_0014830_medgen_c4310797_omim_616913_orphanet_466806 Platelet-type bleeding disorder 20 MONDO:MONDO:0014830,MedGen:C4310797,OMIM:616913,Orphanet:466806 3 3 1.0000 condition_record_support_limited 20 0 2 Platelet-type_bleeding_disorder_20 4 low_record_burden_interpretation_limited low_record_burden_gene SLCO1B3 slco1b3_related_disorder SLCO1B3-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 SLCO1B3-related_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene SLC9A1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene SLC9A1 mondo_mondo_0014572_medgen_c4225383_omim_616291_orphanet_448251 Lichtenstein-Knorr syndrome MONDO:MONDO:0014572,MedGen:C4225383,OMIM:616291,Orphanet:448251 3 3 1.0000 condition_record_support_limited 20 0 1 Lichtenstein-Knorr_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene SLC7A7 slc7a7_related_disorder SLC7A7-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 SLC7A7-related_disorder 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A19 slc6a19_related_disorder SLC6A19-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 SLC6A19-related_disorder 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 3 3 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_delay 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC5A6 mondo_mondo_0859255_medgen_c5676997_omim_619903 Peripheral motor neuropathy, childhood-onset, biotin-responsive MONDO:MONDO:0859255,MedGen:C5676997,OMIM:619903 3 3 1.0000 condition_record_support_limited 20 0 3 Peripheral_motor_neuropathy,_childhood-onset,_biotin-responsive 13 low_record_burden_interpretation_limited low_record_burden_gene SLC52A3 mondo_mondo_0100428_medgen_c0393540_omim_211500 Progressive bulbar palsy of childhood MONDO:MONDO:0100428,MedGen:C0393540,OMIM:211500 3 3 1.0000 condition_record_support_limited 20 0 3 Progressive_bulbar_palsy_of_childhood 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC4A4 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene SLC4A11 slc4a11_related_disorder SLC4A11-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 SLC4A11-related_disorder 179 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC4A11 human_phenotype_ontology_hp_0001131_human_phenotype_ontology_hp_0007775_mondo_mondo_0018102_medgen_c0010036_orphanet_34533 Corneal dystrophy Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533 3 3 1.0000 condition_record_support_limited 20 0 3 Corneal_dystrophy 179 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC4A10 slc4a10_related_neurodevelopmental_disorder SLC4A10-related neurodevelopmental disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 SLC4A10-related_neurodevelopmental_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene SLC4A1 human_phenotype_ontology_hp_0008341_mondo_mondo_0015827_medgen_c1704380_orphanet_18 Distal renal tubular acidosis Human_Phenotype_Ontology:HP:0008341,MONDO:MONDO:0015827,MedGen:C1704380,Orphanet:18 3 3 1.0000 condition_record_support_limited 20 0 3 Distal_renal_tubular_acidosis 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC44A1 mondo_mondo_0030028_medgen_c5394335_omim_618868 Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline MONDO:MONDO:0030028,MedGen:C5394335,OMIM:618868 3 3 1.0000 condition_record_support_limited 20 0 0 Neurodegeneration,_childhood-onset,_with_ataxia,_tremor,_optic_atrophy,_and_cognitive_decline 5 low_record_burden_interpretation_limited low_record_burden_gene SLC39A5 mondo_mondo_0014411_medgen_c4014762_omim_615946 Myopia 24, autosomal dominant MONDO:MONDO:0014411,MedGen:C4014762,OMIM:615946 3 3 1.0000 condition_record_support_limited 20 0 0 Myopia_24,_autosomal_dominant 4 low_record_burden_interpretation_limited low_record_burden_gene SLC35B2 mondo_mondo_0859518_medgen_c5830312_omim_620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia MONDO:MONDO:0859518,MedGen:C5830312,OMIM:620269 3 3 1.0000 condition_record_support_limited 20 0 1 Leukodystrophy,_hypomyelinating,_26,_with_chondrodysplasia 3 low_record_burden_interpretation_limited low_record_burden_gene SLC30A2 mondo_mondo_0011973_medgen_c1842486_omim_608118 Zinc deficiency, transient neonatal MONDO:MONDO:0011973,MedGen:C1842486,OMIM:608118 3 3 1.0000 condition_record_support_limited 20 0 0 Zinc_deficiency,_transient_neonatal 5 low_record_burden_interpretation_limited low_record_burden_gene SLC2A10 slc2a10_related_disorder SLC2A10-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 SLC2A10-related_disorder 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 3 3 1.0000 condition_record_support_limited 20 0 3 Microcephaly 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC29A3 slc29a3_related_disorder SLC29A3-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 SLC29A3-related_disorder 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A8 mondo_mondo_0011720_medgen_c4721889_omim_606766_orphanet_276234 Spermatogenic failure 3 MONDO:MONDO:0011720,MedGen:C4721889,OMIM:606766,Orphanet:276234 3 3 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_3 3 low_record_burden_interpretation_limited low_record_burden_gene SLC26A3 human_phenotype_ontology_hp_0001561_human_phenotype_ontology_hp_0005098_mondo_mondo_0004585_medgen_c0020224 Polyhydramnios Human_Phenotype_Ontology:HP:0001561,Human_Phenotype_Ontology:HP:0005098,MONDO:MONDO:0004585,MedGen:C0020224 3 3 1.0000 condition_record_support_limited 20 0 3 Polyhydramnios 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A3 human_phenotype_ontology_hp_0001789_mondo_mondo_0015193_medgen_c0020305_orphanet_1041 Hydrops fetalis Human_Phenotype_Ontology:HP:0001789,MONDO:MONDO:0015193,MedGen:C0020305,Orphanet:1041 3 3 1.0000 condition_record_support_limited 20 0 3 Hydrops_fetalis 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A22 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A13 citrin_deficiency_neonatal_onset CITRIN DEFICIENCY, NEONATAL ONSET . 3 3 1.0000 condition_record_support_limited 20 0 3 CITRIN_DEFICIENCY,_NEONATAL_ONSET 213 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC19A3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC19A1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC17A5 slc17a5_related_disorder SLC17A5-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 SLC17A5-related_disorder 154 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC16A1 slc16a1_related_disorder SLC16A1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 SLC16A1-related_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC14A1 jk_null_variant Jk-null variant . 3 3 1.0000 condition_record_support_limited 20 0 1 Jk-null_variant 5 low_record_burden_interpretation_limited low_record_burden_gene SLC13A5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A4 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene SLC12A4 mondo_mondo_0009515_medgen_c0023195_omim_245900_orphanet_79293 Norum disease MONDO:MONDO:0009515,MedGen:C0023195,OMIM:245900,Orphanet:79293 3 3 1.0000 condition_record_support_limited 20 0 3 Norum_disease 5 low_record_burden_interpretation_limited low_record_burden_gene SLC12A4 mondo_mondo_0007620_medgen_c0342895_omim_136120_orphanet_650_orphanet_79292 Fish-eye disease MONDO:MONDO:0007620,MedGen:C0342895,OMIM:136120,Orphanet:650,Orphanet:79292 3 3 1.0000 condition_record_support_limited 20 0 3 Fish-eye_disease 5 low_record_burden_interpretation_limited low_record_burden_gene SLC12A2 medgen_c3887873 Hearing loss MedGen:C3887873 3 3 1.0000 condition_record_support_limited 20 0 3 Hearing_loss 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A1 slc12a1_related_disorder SLC12A1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 SLC12A1-related_disorder 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A1 human_phenotype_ontology_hp_0000102_human_phenotype_ontology_hp_0000787_mondo_mondo_0008171_medgen_c0392525 Nephrolithiasis Human_Phenotype_Ontology:HP:0000102,Human_Phenotype_Ontology:HP:0000787,MONDO:MONDO:0008171,MedGen:C0392525 3 3 1.0000 condition_record_support_limited 20 0 3 Nephrolithiasis 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A1 human_phenotype_ontology_hp_0000121_mondo_mondo_0001567_medgen_c0027709 Nephrocalcinosis Human_Phenotype_Ontology:HP:0000121,MONDO:MONDO:0001567,MedGen:C0027709 3 3 1.0000 condition_record_support_limited 20 0 3 Nephrocalcinosis 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SKIC3 skic3_related_disorder SKIC3-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 SKIC3-related_disorder 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SKI mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 32 compact_adjacent_exon_block_opportunity local_compact_architecture SIX6 condition_not_provided condition not provided .|MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 See_cases|not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene SIGMAR1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 27 compact_adjacent_exon_block_opportunity local_compact_architecture SHOC2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided|not_specified 6 low_record_burden_interpretation_limited low_record_burden_gene SHOC2 mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 3 3 1.0000 condition_record_support_limited 20 0 3 RASopathy 6 low_record_burden_interpretation_limited low_record_burden_gene SHMT2 mondo_mondo_0030866_medgen_c5436848_omim_619121 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities MONDO:MONDO:0030866,MedGen:C5436848,OMIM:619121 3 3 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_cardiomyopathy,_spasticity,_and_brain_abnormalities 3 low_record_burden_interpretation_limited low_record_burden_gene SHANK1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 19 low_record_burden_interpretation_limited low_record_burden_gene SH3TC2 sh3tc2_related_disorder SH3TC2-related disorder MedGen:CN239303 3 3 1.0000 condition_record_support_limited 20 0 3 SH3TC2-related_disorder 162 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SH2D1A mondo_mondo_0019751_medgen_c3890737_orphanet_93665 Autoinflammatory syndrome MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 3 3 1.0000 condition_record_support_limited 20 0 2 Autoinflammatory_syndrome 43 compact_adjacent_exon_block_opportunity local_compact_architecture SGMS2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene SGCB mondo_mondo_0016142_medgen_c2930900_orphanet_207063 Qualitative or quantitative defects of beta-sarcoglycan MONDO:MONDO:0016142,MedGen:C2930900,Orphanet:207063 3 3 1.0000 condition_record_support_limited 20 0 3 Qualitative_or_quantitative_defects_of_beta-sarcoglycan 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCA mondo_mondo_0016140_medgen_c2936331_orphanet_207052 Sarcoglycanopathy MONDO:MONDO:0016140,MedGen:C2936331,Orphanet:207052 3 3 1.0000 condition_record_support_limited 20 0 3 Sarcoglycanopathy 186 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SFTPB sftpb_related_disorder SFTPB-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 SFTPB-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene SF3B1 mondo_mondo_0018881_mesh_d009190_medgen_c3463824_omim_614286_orphanet_52688 Myelodysplastic syndrome MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688 3 3 1.0000 condition_record_support_limited 20 0 2 Myelodysplastic_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene SETX mondo_mondo_0018894_medgen_c0393541_orphanet_53739 Distal spinal muscular atrophy MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739 3 3 1.0000 condition_record_support_limited 20 0 3 Distal_spinal_muscular_atrophy 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD1B mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 95 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD1A setd1a_related_disorder SETD1A-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 SETD1A-related_disorder 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SET mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPING1 mondo_mondo_0007361_medgen_c1852700_omim_120790 C1 inhibitor deficiency MONDO:MONDO:0007361,MedGen:C1852700,OMIM:120790 3 3 1.0000 condition_record_support_limited 20 0 2 C1_inhibitor_deficiency 374 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINF2 mondo_mondo_0009883_medgen_c2752081_omim_262850_orphanet_79 Alpha-2-plasmin inhibitor deficiency MONDO:MONDO:0009883,MedGen:C2752081,OMIM:262850,Orphanet:79 3 3 1.0000 condition_record_support_limited 20 0 0 Alpha-2-plasmin_inhibitor_deficiency 5 low_record_burden_interpretation_limited low_record_burden_gene SERPIND1 mondo_mondo_0012876_medgen_c0398626_omim_612356 Heparin cofactor II deficiency MONDO:MONDO:0012876,MedGen:C0398626,OMIM:612356 3 3 1.0000 condition_record_support_limited 20 0 0 Heparin_cofactor_II_deficiency 4 low_record_burden_interpretation_limited low_record_burden_gene SERPINC1 human_phenotype_ontology_hp_0002625_mesh_d020246_medgen_c0149871 Deep venous thrombosis Human_Phenotype_Ontology:HP:0002625,MeSH:D020246,MedGen:C0149871 3 3 1.0000 condition_record_support_limited 20 0 3 Deep_venous_thrombosis 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINB8 mondo_mondo_0014923_medgen_c4310710_omim_617115 Peeling skin syndrome 5 MONDO:MONDO:0014923,MedGen:C4310710,OMIM:617115 3 3 1.0000 condition_record_support_limited 20 0 0 Peeling_skin_syndrome_5 3 low_record_burden_interpretation_limited low_record_burden_gene SERPINB6 mondo_mondo_0013269_medgen_c3150704_omim_613453_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 91 MONDO:MONDO:0013269,MedGen:C3150704,OMIM:613453,Orphanet:90636 3 3 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_nonsyndromic_hearing_loss_91 4 low_record_burden_interpretation_limited low_record_burden_gene SERAC1 serac1_related_disorder SERAC1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 SERAC1-related_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEPTIN9 mondo_mondo_0008076_medgen_c1834304_omim_162100_orphanet_2901 Amyotrophic neuralgia MONDO:MONDO:0008076,MedGen:C1834304,OMIM:162100,Orphanet:2901 3 3 1.0000 condition_record_support_limited 20 0 1 Amyotrophic_neuralgia 3 low_record_burden_interpretation_limited low_record_burden_gene SEPSECS mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 Pontoneocerebellar hypoplasia MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 3 3 1.0000 condition_record_support_limited 20 0 3 Pontoneocerebellar_hypoplasia 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEPHS1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene SELENON sepn1_related_disorder SEPN1-related disorder MedGen:CN239420 3 3 1.0000 condition_record_support_limited 20 0 3 SEPN1-related_disorder 112 compact_adjacent_exon_block_opportunity local_compact_architecture SELENBP1 extra_oral_halitosis Extra oral halitosis . 3 3 1.0000 condition_record_support_limited 20 0 3 Extra_oral_halitosis 4 low_record_burden_interpretation_limited low_record_burden_gene SECISBP2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene SEC63 sec63_related_disorder SEC63-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 SEC63-related_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEC23A mondo_mondo_0011911_medgen_c1843042_omim_607812_orphanet_50814 Craniolenticulosutural dysplasia MONDO:MONDO:0011911,MedGen:C1843042,OMIM:607812,Orphanet:50814 3 3 1.0000 condition_record_support_limited 20 0 0 Craniolenticulosutural_dysplasia 3 low_record_burden_interpretation_limited low_record_burden_gene SDR9C7 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene SDR9C7 mondo_mondo_0017778_medgen_c5848247_orphanet_313 Lamellar ichthyosis MONDO:MONDO:0017778,MedGen:C5848247,Orphanet:313 3 3 1.0000 condition_record_support_limited 20 0 3 Lamellar_ichthyosis 6 low_record_burden_interpretation_limited low_record_burden_gene SDR9C7 mondo_mondo_0033092_medgen_c4539772_omim_617574 Ichthyosis, congenital, autosomal recessive 13 MONDO:MONDO:0033092,MedGen:C4539772,OMIM:617574 3 3 1.0000 condition_record_support_limited 20 0 2 Ichthyosis,_congenital,_autosomal_recessive_13 6 low_record_burden_interpretation_limited low_record_burden_gene SDHD sdhd_related_disorder SDHD-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 SDHD-related_disorder 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHC inherited_phaeochromocytoma_and_paraganglioma_excluding_nf1 Inherited phaeochromocytoma and paraganglioma excluding NF1 . 3 3 1.0000 condition_record_support_limited 20 0 3 Inherited_phaeochromocytoma_and_paraganglioma_excluding_NF1 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHC mondo_mondo_0011424_medgen_c1858592_omim_604287_orphanet_139411 Carney triad MONDO:MONDO:0011424,MedGen:C1858592,OMIM:604287,Orphanet:139411 3 3 1.0000 condition_record_support_limited 20 0 3 Carney_triad 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHA mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 3 3 1.0000 condition_record_support_limited 20 0 3 Leigh_syndrome 320 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SCNN1G mondo_mondo_0013112_medgen_c2751324_omim_613071_orphanet_60033 Bronchiectasis with or without elevated sweat chloride 3 MONDO:MONDO:0013112,MedGen:C2751324,OMIM:613071,Orphanet:60033 3 3 1.0000 condition_record_support_limited 20 0 3 Bronchiectasis_with_or_without_elevated_sweat_chloride_3 16 low_record_burden_interpretation_limited low_record_burden_gene SCNN1B mondo_mondo_0009917_medgen_c5774176_omim_264350_orphanet_171876_orphanet_756 Pseudohypoaldosteronism, type IB1, autosomal recessive MONDO:MONDO:0009917,MedGen:C5774176,OMIM:264350,Orphanet:171876,Orphanet:756 3 3 1.0000 condition_record_support_limited 20 0 1 Pseudohypoaldosteronism,_type_IB1,_autosomal_recessive 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN8A human_phenotype_ontology_hp_0000007_medgen_c0441748 Autosomal recessive inheritance Human_Phenotype_Ontology:HP:0000007,MedGen:C0441748 3 3 1.0000 condition_record_support_limited 20 0 3 Autosomal_recessive_inheritance 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A efo_the_experimental_factor_ontology_efo_0005137_mondo_mondo_0005449_medgen_c2748542 Conduction system disorder EFO:_The_Experimental_Factor_Ontology:EFO_0005137,MONDO:MONDO:0005449,MedGen:C2748542 3 3 1.0000 condition_record_support_limited 20 0 3 Conduction_system_disorder 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A skeletal_muscle_channelopathy Skeletal muscle channelopathy . 3 3 1.0000 condition_record_support_limited 20 0 3 Skeletal_muscle_channelopathy 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A medgen_c1868433 Normokalemic periodic paralysis, potassium-sensitive MedGen:C1868433 3 3 1.0000 condition_record_support_limited 20 0 3 Normokalemic_periodic_paralysis,_potassium-sensitive 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 3 3 1.0000 condition_record_support_limited 20 0 2 Autism_spectrum_disorder 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 3 3 1.0000 condition_record_support_limited 20 0 1 Autism 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCLT1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAPER human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Rod-cone dystrophy Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 3 3 1.0000 condition_record_support_limited 20 0 3 Rod-cone_dystrophy 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAPER human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Moderate intellectual disability Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 3 3 1.0000 condition_record_support_limited 20 0 3 Moderate_intellectual_disability 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAF4 scaf4_related_disorder SCAF4-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 SCAF4-related_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SBF2 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 3 3 1.0000 condition_record_support_limited 20 0 3 Charcot-Marie-Tooth_disease 88 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SBDS mondo_mondo_0009833_medgen_c0272170_omim_ps260400_orphanet_811 Shwachman syndrome MONDO:MONDO:0009833,MedGen:C0272170,OMIM:PS260400,Orphanet:811 3 3 1.0000 condition_record_support_limited 20 0 3 Shwachman_syndrome 48 compact_adjacent_exon_block_opportunity local_compact_architecture SAMHD1 samhd1_related_disorder SAMHD1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 SAMHD1-related_disorder 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SAMHD1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SAMD9 mondo_mondo_0012502_medgen_c1864861_omim_610455_orphanet_306658_orphanet_53715 Normophosphatemic familial tumoral calcinosis MONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455,Orphanet:306658,Orphanet:53715 3 3 1.0000 condition_record_support_limited 20 0 2 Normophosphatemic_familial_tumoral_calcinosis 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SAMD9 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 3 3 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer-predisposing_syndrome 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SAMD7 macular_dystrophy_with_cone_dysfunction MACULAR DYSTROPHY WITH CONE DYSFUNCTION . 3 3 1.0000 condition_record_support_limited 20 0 0 MACULAR_DYSTROPHY_WITH_CONE_DYSFUNCTION 5 low_record_burden_interpretation_limited low_record_burden_gene SALL4 mondo_mondo_0007836_medgen_c1327918_omim_147750_orphanet_2307 Oculootoradial syndrome MONDO:MONDO:0007836,MedGen:C1327918,OMIM:147750,Orphanet:2307 3 3 1.0000 condition_record_support_limited 20 0 2 Oculootoradial_syndrome 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SAG mondo_mondo_0859367_medgen_c5774303_omim_620228 Retinitis pigmentosa 96 MONDO:MONDO:0859367,MedGen:C5774303,OMIM:620228 3 3 1.0000 condition_record_support_limited 20 0 3 Retinitis_pigmentosa_96 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SACS mondo_mondo_0100309_medgen_c0004138_orphanet_183518 Hereditary ataxia MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518 3 3 1.0000 condition_record_support_limited 20 0 3 Hereditary_ataxia 990 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SACS human_phenotype_ontology_hp_0011442_medgen_c4023354 Abnormal central motor function Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 3 3 1.0000 condition_record_support_limited 20 0 2 Abnormal_central_motor_function 990 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RYR1 mondo_mondo_0018948_medgen_c0270962_orphanet_598 Multiminicore myopathy MONDO:MONDO:0018948,MedGen:C0270962,Orphanet:598 3 3 1.0000 condition_record_support_limited 20 0 3 Multiminicore_myopathy 770 large_gene_or_donor_burden_stress_case donor_burden_stress RUSF1 mondo_mondo_0009297_medgen_c3245525_omim_233100_orphanet_69076 Familial renal glucosuria MONDO:MONDO:0009297,MedGen:C3245525,OMIM:233100,Orphanet:69076 3 3 1.0000 condition_record_support_limited 20 0 0 Familial_renal_glucosuria 3 low_record_burden_interpretation_limited low_record_burden_gene RUBCN mondo_mondo_0014311_medgen_c3810326_omim_615705_orphanet_404499 Autosomal recessive spinocerebellar ataxia 15 MONDO:MONDO:0014311,MedGen:C3810326,OMIM:615705,Orphanet:404499 3 3 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_spinocerebellar_ataxia_15 5 low_record_burden_interpretation_limited low_record_burden_gene RSPO1 mondo_mondo_0012530_medgen_c3149931_omim_610644_orphanet_85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome MONDO:MONDO:0012530,MedGen:C3149931,OMIM:610644,Orphanet:85112 3 3 1.0000 condition_record_support_limited 20 0 1 Palmoplantar_keratoderma-XX_sex_reversal-predisposition_to_squamous_cell_carcinoma_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene RSPH1 mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 Kartagener syndrome MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 3 3 1.0000 condition_record_support_limited 20 0 3 Kartagener_syndrome 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS6KA3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS24 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene RPS17 human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Diamond-Blackfan anemia Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 3 3 1.0000 condition_record_support_limited 20 0 2 Diamond-Blackfan_anemia 6 low_record_burden_interpretation_limited low_record_burden_gene RPIA condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene RPGRIP1L mondo_mondo_0800103_medgen_c5435651_omim_216360_orphanet_1454 COACH syndrome 1 MONDO:MONDO:0800103,MedGen:C5435651,OMIM:216360,Orphanet:1454 3 3 1.0000 condition_record_support_limited 20 0 3 COACH_syndrome_1 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1 mondo_mondo_0008764_medgen_c2931258_omim_204000_orphanet_65 Leber congenital amaurosis 1 MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65 3 3 1.0000 condition_record_support_limited 20 0 3 Leber_congenital_amaurosis_1 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGR x_linked_rpgr_related_disorders X-linked RPGR-related disorders . 3 3 1.0000 condition_record_support_limited 20 0 1 X-linked_RPGR-related_disorders 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RP2 mondo_mondo_0010227_medgen_c1845667_omim_300029_orphanet_791 Retinitis pigmentosa 3 MONDO:MONDO:0010227,MedGen:C1845667,OMIM:300029,Orphanet:791 3 3 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa_3 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RP2 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 3 3 1.0000 condition_record_support_limited 20 0 1 Leber_congenital_amaurosis 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RP1L1 rp1l1_related_disorder RP1L1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 RP1L1-related_disorder 46 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ROBO1 robo1_related_disorder ROBO1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 ROBO1-related_disorder 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNU7-1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene RNU2-2 mondo_mondo_1060177_medgen_cn379761_omim_621304 Developmental and epileptic encephalopathy 119 MONDO:MONDO:1060177,MedGen:CN379761,OMIM:621304 3 3 1.0000 condition_record_support_limited 20 0 3 Developmental_and_epileptic_encephalopathy_119 24 single_exon_hotspot_opportunity local_compact_architecture RNPC3 human_phenotype_ontology_hp_0000824_human_phenotype_ontology_hp_0000861_human_phenotype_ontology_hp_0008195_human_phenotype_ontology_hp_0008206_medgen_c5539399 Decreased response to growth hormone stimulation test Human_Phenotype_Ontology:HP:0000824,Human_Phenotype_Ontology:HP:0000861,Human_Phenotype_Ontology:HP:0008195,Human_Phenotype_Ontology:HP:0008206,MedGen:C5539399 3 3 1.0000 condition_record_support_limited 20 0 2 Decreased_response_to_growth_hormone_stimulation_test 11 low_record_burden_interpretation_limited low_record_burden_gene RNF6 medgen_c4016881 Esophageal squamous cell carcinoma, somatic MedGen:C4016881 3 3 1.0000 condition_record_support_limited 20 0 0 Esophageal_squamous_cell_carcinoma,_somatic 3 low_record_burden_interpretation_limited low_record_burden_gene RNF43 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNF213 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 3 3 1.0000 condition_record_support_limited 20 0 2 Moyamoya_angiopathy 22 large_gene_or_donor_burden_stress_case donor_burden_stress RNF13 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene RNF113A mondo_mondo_0010495_medgen_c4225420_omim_300953_orphanet_33364 Trichothiodystrophy 5, nonphotosensitive MONDO:MONDO:0010495,MedGen:C4225420,OMIM:300953,Orphanet:33364 3 3 1.0000 condition_record_support_limited 20 0 1 Trichothiodystrophy_5,_nonphotosensitive 5 low_record_burden_interpretation_limited low_record_burden_gene RNASEH2C condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene RNASEH2C mondo_mondo_0012471_medgen_c1835916_omim_610329_orphanet_51 Aicardi-Goutieres syndrome 3 MONDO:MONDO:0012471,MedGen:C1835916,OMIM:610329,Orphanet:51 3 3 1.0000 condition_record_support_limited 20 0 1 Aicardi-Goutieres_syndrome_3 7 low_record_burden_interpretation_limited low_record_burden_gene RNASEH2A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNASEH1 mondo_mondo_0014656_medgen_c4225312_omim_616479_orphanet_329336 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MONDO:MONDO:0014656,MedGen:C4225312,OMIM:616479,Orphanet:329336 3 3 1.0000 condition_record_support_limited 20 0 2 Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_2 6 low_record_burden_interpretation_limited low_record_burden_gene RMND5B mondo_mondo_0013519_medgen_c3151441_omim_613987_orphanet_1775 Dyskeratosis congenita, autosomal recessive 2 MONDO:MONDO:0013519,MedGen:C3151441,OMIM:613987,Orphanet:1775 3 3 1.0000 condition_record_support_limited 20 0 3 Dyskeratosis_congenita,_autosomal_recessive_2 3 low_record_burden_interpretation_limited low_record_burden_gene RMND5B mondo_mondo_0009136_medgen_c1857144_omim_224230_orphanet_1775 Dyskeratosis congenita, autosomal recessive 1 MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230,Orphanet:1775 3 3 1.0000 condition_record_support_limited 20 0 3 Dyskeratosis_congenita,_autosomal_recessive_1 3 low_record_burden_interpretation_limited low_record_burden_gene RMND1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLBP1 medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 3 3 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_retinitis_pigmentosa 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIPK1 mondo_mondo_0003778_medgen_c0398686_orphanet_101997 Inborn error of immunity MONDO:MONDO:0003778,MedGen:C0398686,Orphanet:101997 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_error_of_immunity 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIPK1 mondo_mondo_0016542_medgen_c4749850_orphanet_238569 IL10-related early-onset inflammatory bowel disease MONDO:MONDO:0016542,MedGen:C4749850,Orphanet:238569 3 3 1.0000 condition_record_support_limited 20 0 3 IL10-related_early-onset_inflammatory_bowel_disease 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RINT1 mondo_mondo_0032844_medgen_c5231437_omim_618641 Infantile liver failure syndrome 3 MONDO:MONDO:0032844,MedGen:C5231437,OMIM:618641 3 3 1.0000 condition_record_support_limited 20 0 1 Infantile_liver_failure_syndrome_3 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIGI mondo_mondo_0014575_medgen_c4225380_omim_616298_orphanet_85191 Singleton-Merten syndrome 2 MONDO:MONDO:0014575,MedGen:C4225380,OMIM:616298,Orphanet:85191 3 3 1.0000 condition_record_support_limited 20 0 0 Singleton-Merten_syndrome_2 5 low_record_burden_interpretation_limited low_record_burden_gene RHOA mondo_mondo_0032884_medgen_c5231477_omim_618727 Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies MONDO:MONDO:0032884,MedGen:C5231477,OMIM:618727 3 3 1.0000 condition_record_support_limited 20 0 1 Ectodermal_dysplasia_with_facial_dysmorphism_and_acral,_ocular,_and_brain_anomalies 4 low_record_burden_interpretation_limited low_record_burden_gene RHO medgen_c4016366 Retinitis pigmentosa 4, autosomal recessive MedGen:C4016366 3 3 1.0000 condition_record_support_limited 20 0 3 Retinitis_pigmentosa_4,_autosomal_recessive 198 compact_adjacent_exon_block_opportunity local_compact_architecture RFXANK condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RFXANK mondo_mondo_0971005_medgen_cn377826_omim_209920 MHC class II deficiency 1 MONDO:MONDO:0971005,MedGen:CN377826,OMIM:209920 3 3 1.0000 condition_record_support_limited 20 0 2 MHC_class_II_deficiency_1 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RFX5 mondo_mondo_0971016_medgen_c1859538_omim_620818 MHC class II deficiency 5 MONDO:MONDO:0971016,MedGen:C1859538,OMIM:620818 3 3 1.0000 condition_record_support_limited 20 0 3 MHC_class_II_deficiency_5 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RFX3 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene RETREG1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 25 compact_adjacent_exon_block_opportunity local_compact_architecture RET human_phenotype_ontology_hp_0002865_mondo_mondo_0015277_mesh_c536914_medgen_c0238462_orphanet_1332 Medullary thyroid carcinoma Human_Phenotype_Ontology:HP:0002865,MONDO:MONDO:0015277,MeSH:C536914,MedGen:C0238462,Orphanet:1332 3 3 1.0000 condition_record_support_limited 20 0 3 Medullary_thyroid_carcinoma 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET mondo_mondo_0800031_medgen_c1275808_omim_ps209880_orphanet_661_orphanet_99803 Congenital central hypoventilation MONDO:MONDO:0800031,MedGen:C1275808,OMIM:PS209880,Orphanet:661,Orphanet:99803 3 3 1.0000 condition_record_support_limited 20 0 3 Congenital_central_hypoventilation 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture REEP1 mondo_mondo_0859279_medgen_c5774201_omim_620011 Spinal muscular atrophy, distal, autosomal recessive, 6 MONDO:MONDO:0859279,MedGen:C5774201,OMIM:620011 3 3 1.0000 condition_record_support_limited 20 0 2 Spinal_muscular_atrophy,_distal,_autosomal_recessive,_6 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture REEP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RDH12 human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 3 3 1.0000 condition_record_support_limited 20 0 3 Macular_dystrophy 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RDH11 mondo_mondo_0014495_medgen_c4015242_omim_616108_orphanet_436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome MONDO:MONDO:0014495,MedGen:C4015242,OMIM:616108,Orphanet:436245 3 3 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa-juvenile_cataract-short_stature-intellectual_disability_syndrome 9 low_record_burden_interpretation_limited low_record_burden_gene RCBTB1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 1.0000 condition_record_support_limited 20 0 3 Retinitis_pigmentosa 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBP4 mondo_mondo_0014060_medgen_c3554593_omim_615147_orphanet_352718 Progressive retinal dystrophy due to retinol transport defect MONDO:MONDO:0014060,MedGen:C3554593,OMIM:615147,Orphanet:352718 3 3 1.0000 condition_record_support_limited 20 0 1 Progressive_retinal_dystrophy_due_to_retinol_transport_defect 19 low_record_burden_interpretation_limited low_record_burden_gene RBP4 mondo_mondo_0014635_medgen_c4225330_omim_616428_orphanet_98938 Microphthalmia, isolated, with coloboma 10 MONDO:MONDO:0014635,MedGen:C4225330,OMIM:616428,Orphanet:98938 3 3 1.0000 condition_record_support_limited 20 0 2 Microphthalmia,_isolated,_with_coloboma_10 19 low_record_burden_interpretation_limited low_record_burden_gene RBM20 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 3 3 1.0000 condition_record_support_limited 20 0 2 Cardiomyopathy 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBCK1 condition_not_provided condition not provided .|MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 See_cases|not_provided 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBCK1 medgen_c4017231 Polyglucosan body myopathy 1 with immunodeficiency MedGen:C4017231 3 3 1.0000 condition_record_support_limited 20 0 0 Polyglucosan_body_myopathy_1_with_immunodeficiency 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBBP8 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene RBBP8 mondo_mondo_0011715_medgen_c1847572_omim_606744_orphanet_808 Seckel syndrome 2 MONDO:MONDO:0011715,MedGen:C1847572,OMIM:606744,Orphanet:808 3 3 1.0000 condition_record_support_limited 20 0 2 Seckel_syndrome_2 11 low_record_burden_interpretation_limited low_record_burden_gene RB1 mondo_mondo_0800312_medgen_c1848435 Wooly hair, autosomal recessive 1, with or without hypotrichosis MONDO:MONDO:0800312,MedGen:C1848435 3 3 1.0000 condition_record_support_limited 20 0 2 Wooly_hair,_autosomal_recessive_1,_with_or_without_hypotrichosis 947 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAX2 mondo_mondo_0012483_medgen_c1835865_omim_610381_orphanet_1872 Cone-rod dystrophy 11 MONDO:MONDO:0012483,MedGen:C1835865,OMIM:610381,Orphanet:1872 3 3 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy_11 10 low_record_burden_interpretation_limited low_record_burden_gene RAX condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene RASA1 mondo_mondo_0007864_mesh_d007715_medgen_c0022739_omim_149000_orphanet_2346 Angioosteohypertrophic syndrome MONDO:MONDO:0007864,MeSH:D007715,MedGen:C0022739,OMIM:149000,Orphanet:2346 3 3 1.0000 condition_record_support_limited 20 0 0 Angioosteohypertrophic_syndrome 285 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAG2 rag2_related_disorder RAG2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 RAG2-related_disorder 147 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAF1 mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 Primary familial hypertrophic cardiomyopathy MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 3 3 1.0000 condition_record_support_limited 20 0 3 Primary_familial_hypertrophic_cardiomyopathy 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAF1 mondo_mondo_0007893_medgen_c0175704_omim_ps151100_orphanet_500 Noonan syndrome with multiple lentigines MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100,Orphanet:500 3 3 1.0000 condition_record_support_limited 20 0 3 Noonan_syndrome_with_multiple_lentigines 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD51D mondo_mondo_0700274_medgen_cn377763 RAD51D-related cancer predisposition MONDO:MONDO:0700274,MedGen:CN377763 3 3 1.0000 condition_record_support_limited 20 0 3 RAD51D-related_cancer_predisposition 245 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51C mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 3 3 1.0000 condition_record_support_limited 20 0 2 Malignant_tumor_of_breast 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51C inherited_breast_cancer_and_ovarian_cancer Inherited breast cancer and ovarian cancer . 3 3 1.0000 condition_record_support_limited 20 0 3 Inherited_breast_cancer_and_ovarian_cancer 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51C human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 3 3 1.0000 condition_record_support_limited 20 0 3 Breast_carcinoma 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51 mondo_mondo_0013790_medgen_c3281089_omim_614508_orphanet_238722 Mirror movements 2 MONDO:MONDO:0013790,MedGen:C3281089,OMIM:614508,Orphanet:238722 3 3 1.0000 condition_record_support_limited 20 0 1 Mirror_movements_2 13 low_record_burden_interpretation_limited low_record_burden_gene RAD50 human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Hepatocellular carcinoma Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 3 3 1.0000 condition_record_support_limited 20 0 1 Hepatocellular_carcinoma 483 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RACGAP1 medgen_c5677049 Anemia, congenital dyserythropoietic, type IIIb MedGen:C5677049 3 3 1.0000 condition_record_support_limited 20 0 2 Anemia,_congenital_dyserythropoietic,_type_IIIb 3 low_record_burden_interpretation_limited low_record_burden_gene RAC3 condition_not_provided condition not provided .|MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 See_cases|not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene RAC2 mondo_mondo_0033554_medgen_c5436549_omim_618986 Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia MONDO:MONDO:0033554,MedGen:C5436549,OMIM:618986 3 3 1.0000 condition_record_support_limited 20 0 2 Immunodeficiency_73b_with_defective_neutrophil_chemotaxis_and_lymphopenia 7 low_record_burden_interpretation_limited low_record_burden_gene RAB7A mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 3 3 1.0000 condition_record_support_limited 20 0 3 Charcot-Marie-Tooth_disease 4 low_record_burden_interpretation_limited low_record_burden_gene RAB3GAP2 rab3gap2_related_disorder RAB3GAP2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 RAB3GAP2-related_disorder 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB39B mondo_mondo_0010709_medgen_c0796195_omim_311510_orphanet_2379 Early-onset parkinsonism-intellectual disability syndrome MONDO:MONDO:0010709,MedGen:C0796195,OMIM:311510,Orphanet:2379 3 3 1.0000 condition_record_support_limited 20 0 2 Early-onset_parkinsonism-intellectual_disability_syndrome 12 low_record_burden_interpretation_limited low_record_burden_gene RAB28 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB23 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB23 rab23_related_disorder RAB23-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 RAB23-related_disorder 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB11B condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene QRSL1 medgen_c3532239 Cardiomyopathy, mitochondrial MedGen:C3532239 3 3 1.0000 condition_record_support_limited 20 0 2 Cardiomyopathy,_mitochondrial 12 low_record_burden_interpretation_limited low_record_burden_gene QRICH1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYGM pygm_related_disorder PYGM-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 PYGM-related_disorder 294 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUS1 pus1_related_disorder PUS1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 PUS1-related_disorder 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTS pts_related_disorder PTS-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 PTS-related_disorder 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTS medgen_c4017280 Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency MedGen:C4017280 3 3 1.0000 condition_record_support_limited 20 0 2 Hyperphenylalaninemia,_bh4-deficient,_a,_due_to_partial_pts_deficiency 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPRQ mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 3 3 1.0000 condition_record_support_limited 20 0 2 Hearing_loss,_autosomal_recessive 60 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PTPN4 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene PTPN11 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 3 3 1.0000 condition_record_support_limited 20 0 3 Short_stature 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 3 3 1.0000 condition_record_support_limited 20 0 3 Non-immune_hydrops_fetalis 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTH condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene PTEN mondo_mondo_0010172_medgen_c1848599_omim_276950_orphanet_3412 VACTERL with hydrocephalus MONDO:MONDO:0010172,MedGen:C1848599,OMIM:276950,Orphanet:3412 3 3 1.0000 condition_record_support_limited 20 0 3 VACTERL_with_hydrocephalus 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN pten_hamartoma_tumor_syndromes PTEN hamartoma tumor syndromes . 3 3 1.0000 condition_record_support_limited 20 0 3 PTEN_hamartoma_tumor_syndromes 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 3 3 1.0000 condition_record_support_limited 20 0 3 Malignant_tumor_of_urinary_bladder 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 Malignant lymphoma, large B-cell, diffuse MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 3 3 1.0000 condition_record_support_limited 20 0 3 Malignant_lymphoma,_large_B-cell,_diffuse 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 3 3 1.0000 condition_record_support_limited 20 0 3 Macrocephaly 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN human_phenotype_ontology_hp_0009733_mondo_mondo_0021042_mesh_d005910_medgen_c0017638_orphanet_182067 Glioma Human_Phenotype_Ontology:HP:0009733,MONDO:MONDO:0021042,MeSH:D005910,MedGen:C0017638,Orphanet:182067 3 3 1.0000 condition_record_support_limited 20 0 3 Glioma 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTDSS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene PSTPIP1 mondo_mondo_0011462_medgen_c1858361_omim_604416_orphanet_69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome MONDO:MONDO:0011462,MedGen:C1858361,OMIM:604416,Orphanet:69126 3 3 1.0000 condition_record_support_limited 20 0 2 Pyogenic_arthritis-pyoderma_gangrenosum-acne_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene PSMG2 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 14 low_record_burden_interpretation_limited low_record_burden_gene PSMD12 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSMC5 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided|not_specified 3 low_record_burden_interpretation_limited low_record_burden_gene PSMB10 mondo_mondo_0971001_medgen_c5935616_omim_620807 Immunodeficiency 121 with autoinflammation MONDO:MONDO:0971001,MedGen:C5935616,OMIM:620807 3 3 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_121_with_autoinflammation 9 low_record_burden_interpretation_limited low_record_burden_gene PSKH1 mondo_mondo_0975807_medgen_c5975422_omim_620962 Cholestasis, progressive familial intrahepatic, 13 MONDO:MONDO:0975807,MedGen:C5975422,OMIM:620962 3 3 1.0000 condition_record_support_limited 20 0 0 Cholestasis,_progressive_familial_intrahepatic,_13 3 low_record_burden_interpretation_limited low_record_burden_gene PSEN1 medgen_c4015780 Alzheimer disease, familial, with spastic paraparesis and unusual plaques MedGen:C4015780 3 3 1.0000 condition_record_support_limited 20 0 3 Alzheimer_disease,_familial,_with_spastic_paraparesis_and_unusual_plaques 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSAP psap_related_disorder PSAP-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 PSAP-related_disorder 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRSS23 mondo_mondo_0019516_mesh_d000080345_medgen_c0339539_omim_ps133780_orphanet_891 Familial exudative vitreoretinopathy MONDO:MONDO:0019516,MeSH:D000080345,MedGen:C0339539,OMIM:PS133780,Orphanet:891 3 3 1.0000 condition_record_support_limited 20 0 2 Familial_exudative_vitreoretinopathy 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRRT2 mondo_mondo_0100556_medgen_cn377744 PRRT2-associated paroxysmal movement disorder MONDO:MONDO:0100556,MedGen:CN377744 3 3 1.0000 condition_record_support_limited 20 0 3 PRRT2-associated_paroxysmal_movement_disorder 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRR12 prr12_related_disorder PRR12-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 PRR12-related_disorder 74 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PRR12 human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Motor delay Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 3 3 1.0000 condition_record_support_limited 20 0 3 Motor_delay 74 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PRR12 human_phenotype_ontology_hp_0000612_mondo_mondo_0020356_medgen_c0240063_orphanet_98944 Iris coloboma Human_Phenotype_Ontology:HP:0000612,MONDO:MONDO:0020356,MedGen:C0240063,Orphanet:98944 3 3 1.0000 condition_record_support_limited 20 0 3 Iris_coloboma 74 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PRR12 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 3 3 1.0000 condition_record_support_limited 20 0 3 Delayed_speech_and_language_development 74 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PRR12 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 3 3 1.0000 condition_record_support_limited 20 0 3 Autism 74 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PRR12 human_phenotype_ontology_hp_0000504_medgen_c4025846 Abnormality of vision Human_Phenotype_Ontology:HP:0000504,MedGen:C4025846 3 3 1.0000 condition_record_support_limited 20 0 3 Abnormality_of_vision 74 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PRPH2 maculopathy maculopathy . 3 3 1.0000 condition_record_support_limited 20 0 3 maculopathy 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRPH mondo_mondo_0007103_medgen_c1862939_omim_105400_orphanet_803 Amyotrophic lateral sclerosis type 1 MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803 3 3 1.0000 condition_record_support_limited 20 0 0 Amyotrophic_lateral_sclerosis_type_1 3 low_record_burden_interpretation_limited low_record_burden_gene PRPF8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 77 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PROM1 medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 3 3 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_retinitis_pigmentosa 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROK2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene PRNP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRNP mondo_mondo_0010808_medgen_c0206042_omim_600072_orphanet_466 Fatal familial insomnia MONDO:MONDO:0010808,MedGen:C0206042,OMIM:600072,Orphanet:466 3 3 1.0000 condition_record_support_limited 20 0 3 Fatal_familial_insomnia 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRLR mondo_mondo_0014250_medgen_c4706551_omim_615555_orphanet_397685 Familial hyperprolactinemia MONDO:MONDO:0014250,MedGen:C4706551,OMIM:615555,Orphanet:397685 3 3 1.0000 condition_record_support_limited 20 0 0 Familial_hyperprolactinemia 4 low_record_burden_interpretation_limited low_record_burden_gene PRKN prkn_related_disorder PRKN-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 PRKN-related_disorder 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKDC mondo_mondo_0014423_medgen_c4014833_omim_615966_orphanet_317425 Severe combined immunodeficiency due to DNA-PKcs deficiency MONDO:MONDO:0014423,MedGen:C4014833,OMIM:615966,Orphanet:317425 3 3 1.0000 condition_record_support_limited 20 0 1 Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency 3 low_record_burden_interpretation_limited low_record_burden_gene PRKAR1B condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRIM1 mondo_mondo_0019342_medgen_c0265202_omim_ps210600_orphanet_324761_orphanet_808 Seckel syndrome MONDO:MONDO:0019342,MedGen:C0265202,OMIM:PS210600,Orphanet:324761,Orphanet:808 3 3 1.0000 condition_record_support_limited 20 0 3 Seckel_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene PRIM1 mondo_mondo_0859276_medgen_c5774198_omim_620005 Primordial dwarfism-immunodeficiency-lipodystrophy syndrome MONDO:MONDO:0859276,MedGen:C5774198,OMIM:620005 3 3 1.0000 condition_record_support_limited 20 0 3 Primordial_dwarfism-immunodeficiency-lipodystrophy_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene PREPL prepl_related_disorder PREPL-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 PREPL-related_disorder 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRDX3 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene PRDM9 medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 3 3 1.0000 condition_record_support_limited 20 0 0 Genetic_non-acquired_premature_ovarian_failure 3 low_record_burden_interpretation_limited low_record_burden_gene PRDM6 mondo_mondo_0024266_medgen_c4310753_omim_617039 Patent ductus arteriosus 3 MONDO:MONDO:0024266,MedGen:C4310753,OMIM:617039 3 3 1.0000 condition_record_support_limited 20 0 0 Patent_ductus_arteriosus_3 3 low_record_burden_interpretation_limited low_record_burden_gene PRDM16 human_phenotype_ontology_hp_0011664_medgen_c4021133 Left ventricular noncompaction cardiomyopathy Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 3 3 1.0000 condition_record_support_limited 20 0 2 Left_ventricular_noncompaction_cardiomyopathy 16 low_record_burden_interpretation_limited low_record_burden_gene PRDM13 mondo_mondo_0030890_medgen_c5676999_omim_619909 Pontocerebellar hypoplasia, IIA 17 MONDO:MONDO:0030890,MedGen:C5676999,OMIM:619909 3 3 1.0000 condition_record_support_limited 20 0 0 Pontocerebellar_hypoplasia,_IIA_17 7 low_record_burden_interpretation_limited low_record_burden_gene PRDM13 mondo_mondo_0007630_medgen_c0730294_omim_136550_orphanet_75327 North Carolina macular dystrophy MONDO:MONDO:0007630,MedGen:C0730294,OMIM:136550,Orphanet:75327 3 3 1.0000 condition_record_support_limited 20 0 3 North_Carolina_macular_dystrophy 7 low_record_burden_interpretation_limited low_record_burden_gene PQBP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPT1 ppt1_related_disorder PPT1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 PPT1-related_disorder 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP2R3C mondo_mondo_0032739_medgen_c5193086_omim_618420 Spermatogenic failure 36 MONDO:MONDO:0032739,MedGen:C5193086,OMIM:618420 3 3 1.0000 condition_record_support_limited 20 0 3 Spermatogenic_failure_36 7 low_record_burden_interpretation_limited low_record_burden_gene PPP2R1A ppp2r1a_related_disorder PPP2R1A-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 PPP2R1A-related_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP1R21 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPARG pparg_related_disorder PPARG-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 PPARG-related_disorder 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPARG mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 3 3 1.0000 condition_record_support_limited 20 0 0 Carcinoma_of_colon 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POU4F1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene POT1 mondo_mondo_0957263_medgen_c5830496_omim_620367 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 MONDO:MONDO:0957263,MedGen:C5830496,OMIM:620367 3 3 1.0000 condition_record_support_limited 20 0 2 Pulmonary_fibrosis_and/or_bone_marrow_failure_syndrome,_telomere-related,_8 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POT1 mondo_mondo_0957264_medgen_c5830497_omim_620368 Cerebroretinal microangiopathy with calcifications and cysts 3 MONDO:MONDO:0957264,MedGen:C5830497,OMIM:620368 3 3 1.0000 condition_record_support_limited 20 0 3 Cerebroretinal_microangiopathy_with_calcifications_and_cysts_3 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT2 human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Muscular dystrophy Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 3 3 1.0000 condition_record_support_limited 20 0 2 Muscular_dystrophy 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT1 pomt1_related_disorder POMT1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 POMT1-related_disorder 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMP mondo_mondo_0054700_medgen_c4747989_omim_618048 Proteasome-associated autoinflammatory syndrome 2 MONDO:MONDO:0054700,MedGen:C4747989,OMIM:618048 3 3 1.0000 condition_record_support_limited 20 0 1 Proteasome-associated_autoinflammatory_syndrome_2 5 low_record_burden_interpretation_limited low_record_burden_gene POMGNT2 mondo_mondo_0029135_medgen_c4748320_omim_618135 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 MONDO:MONDO:0029135,MedGen:C4748320,OMIM:618135 3 3 1.0000 condition_record_support_limited 20 0 2 Muscular_dystrophy-dystroglycanopathy_(limb-girdle),_type_C,_8 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMGNT1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMC pomc_related_disorder POMC-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 POMC-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene POMC medgen_c4013980 Early onset severe obesity MedGen:C4013980 3 3 1.0000 condition_record_support_limited 20 0 2 Early_onset_severe_obesity 19 low_record_burden_interpretation_limited low_record_burden_gene POLR3H mondo_mondo_0014571_medgen_c4225384_omim_616289 Optic atrophy 9 MONDO:MONDO:0014571,MedGen:C4225384,OMIM:616289 3 3 1.0000 condition_record_support_limited 20 0 0 Optic_atrophy_9 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3GL mondo_mondo_0030992_medgen_c5543206_omim_619234 Short stature, oligodontia, dysmorphic facies, and motor delay MONDO:MONDO:0030992,MedGen:C5543206,OMIM:619234 3 3 1.0000 condition_record_support_limited 20 0 3 Short_stature,_oligodontia,_dysmorphic_facies,_and_motor_delay 3 low_record_burden_interpretation_limited low_record_burden_gene POLR3B mondo_mondo_0700277_medgen_cn378588 POLR3B-related disorder MONDO:MONDO:0700277,MedGen:CN378588 3 3 1.0000 condition_record_support_limited 20 0 3 POLR3B-related_disorder 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3A wiedemann_rautenstrauch_like_progeroid_syndrome Wiedemann-Rautenstrauch-like progeroid syndrome . 3 3 1.0000 condition_record_support_limited 20 0 3 Wiedemann-Rautenstrauch-like_progeroid_syndrome 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR2F waardenburg_syndrome_type_2e_with_neurologic_involvement Waardenburg syndrome type 2E, with neurologic involvement MedGen:CN069053 3 3 1.0000 condition_record_support_limited 20 0 1 Waardenburg_syndrome_type_2E,_with_neurologic_involvement 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR2F medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 3 3 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR1B mondo_mondo_0002457_medgen_c0242387_omim_ps154500_orphanet_861 Treacher Collins syndrome MONDO:MONDO:0002457,MedGen:C0242387,OMIM:PS154500,Orphanet:861 3 3 1.0000 condition_record_support_limited 20 0 3 Treacher_Collins_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene POLR1A condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene POLGARF medgen_c4763519 POLG-related disorder MedGen:C4763519 3 3 1.0000 condition_record_support_limited 20 0 2 POLG-related_disorder 61 compact_adjacent_exon_block_opportunity local_compact_architecture POLGARF mondo_mondo_0018158_medgen_c0342782_omim_ps603041_orphanet_35698 Mitochondrial DNA depletion syndrome MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041,Orphanet:35698 3 3 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_DNA_depletion_syndrome 61 compact_adjacent_exon_block_opportunity local_compact_architecture POLG medgen_c3713421 Childhood myocerebrohepatopathy spectrum MedGen:C3713421 3 3 1.0000 condition_record_support_limited 20 0 2 Childhood_myocerebrohepatopathy_spectrum 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLE pole_related_disorder POLE-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 POLE-related_disorder 487 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture POLE mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 3 3 1.0000 condition_record_support_limited 20 0 3 Hereditary_cancer-predisposing_syndrome 487 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture POLD1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene POLA1 mondo_mondo_0001713_medgen_c5681331_orphanet_68383 Inherited aplastic anemia MONDO:MONDO:0001713,MedGen:C5681331,Orphanet:68383 3 3 1.0000 condition_record_support_limited 20 0 0 Inherited_aplastic_anemia 11 low_record_burden_interpretation_limited low_record_burden_gene POGLUT1 mondo_mondo_0014977_medgen_c4310660_omim_617232_orphanet_480682 Autosomal recessive limb-girdle muscular dystrophy type 2R1 MONDO:MONDO:0014977,MedGen:C4310660,OMIM:617232,Orphanet:480682 3 3 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2R1 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPO mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA6 pnpla6_related_disorder PNPLA6-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 PNPLA6-related_disorder 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA6 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 3 3 1.0000 condition_record_support_limited 20 0 2 Hereditary_spastic_paraplegia 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNLDC1 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 3 3 1.0000 condition_record_support_limited 20 0 3 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 9 low_record_burden_interpretation_limited low_record_burden_gene PNKP human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 3 3 1.0000 condition_record_support_limited 20 0 3 Abnormality_of_the_nervous_system 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMVK mondo_mondo_0023246_mesh_d017499_medgen_c0302319 Linear porokeratosis MONDO:MONDO:0023246,MeSH:D017499,MedGen:C0302319 3 3 1.0000 condition_record_support_limited 20 0 1 Linear_porokeratosis 6 low_record_burden_interpretation_limited low_record_burden_gene PMP22 mondo_mondo_0008392_medgen_c0205713_omim_180800_orphanet_3115 Roussy-Lévy syndrome MONDO:MONDO:0008392,MedGen:C0205713,OMIM:180800,Orphanet:3115 3 3 1.0000 condition_record_support_limited 20 0 3 Roussy-Lévy_syndrome 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMP22 pmp22_related_disorder PMP22-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 PMP22-related_disorder 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMP2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene PMM2 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 3 3 1.0000 condition_record_support_limited 20 0 3 Cerebellar_ataxia 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLS3 mondo_mondo_0010606_medgen_c1844025_omim_306950_orphanet_2140 Hernia, anterior diaphragmatic MONDO:MONDO:0010606,MedGen:C1844025,OMIM:306950,Orphanet:2140 3 3 1.0000 condition_record_support_limited 20 0 1 Hernia,_anterior_diaphragmatic 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLS1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene PLOD1 plod1_related_disorder PLOD1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 PLOD1-related_disorder 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLN condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene PLN efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 3 3 1.0000 condition_record_support_limited 20 0 3 Primary_dilated_cardiomyopathy 11 low_record_burden_interpretation_limited low_record_burden_gene PLN mondo_mondo_0013475_medgen_c3151265_omim_613874 Hypertrophic cardiomyopathy 18 MONDO:MONDO:0013475,MedGen:C3151265,OMIM:613874 3 3 1.0000 condition_record_support_limited 20 0 2 Hypertrophic_cardiomyopathy_18 11 low_record_burden_interpretation_limited low_record_burden_gene PLN human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 3 3 1.0000 condition_record_support_limited 20 0 3 Cardiomyopathy 11 low_record_burden_interpretation_limited low_record_burden_gene PLEKHM1 mondo_mondo_0020848_medgen_c4748197_omim_618107 Osteopetrosis, autosomal dominant 3 MONDO:MONDO:0020848,MedGen:C4748197,OMIM:618107 3 3 1.0000 condition_record_support_limited 20 0 0 Osteopetrosis,_autosomal_dominant_3 4 low_record_burden_interpretation_limited low_record_burden_gene PLEKHA7 medgen_c0810364_orphanet_1991 Cleft lip with or without cleft palate MedGen:C0810364,Orphanet:1991 3 3 1.0000 condition_record_support_limited 20 0 0 Cleft_lip_with_or_without_cleft_palate 4 low_record_burden_interpretation_limited low_record_burden_gene PLEC human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 3 3 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 154 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PLCG2 mondo_mondo_0013944_medgen_c3553961_omim_614878_orphanet_324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation MONDO:MONDO:0013944,MedGen:C3553961,OMIM:614878,Orphanet:324530 3 3 1.0000 condition_record_support_limited 20 0 0 Autoinflammation-PLCG2-associated_antibody_deficiency-immune_dysregulation 10 low_record_burden_interpretation_limited low_record_burden_gene PLCD1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene PLCB1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLAAT3 mondo_mondo_0958034_medgen_c5882746_omim_620683_orphanet_686999 Lipodystrophy, familial partial, type 9 MONDO:MONDO:0958034,MedGen:C5882746,OMIM:620683,Orphanet:686999 3 3 1.0000 condition_record_support_limited 20 0 0 Lipodystrophy,_familial_partial,_type_9 3 low_record_burden_interpretation_limited low_record_burden_gene PLA2G7 human_phenotype_ontology_hp_0040175_mondo_mondo_0013663_medgen_c3280315_omim_614278 Platelet-activating factor acetylhydrolase deficiency Human_Phenotype_Ontology:HP:0040175,MONDO:MONDO:0013663,MedGen:C3280315,OMIM:614278 3 3 1.0000 condition_record_support_limited 20 0 0 Platelet-activating_factor_acetylhydrolase_deficiency 3 low_record_burden_interpretation_limited low_record_burden_gene PLA2G6 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 3 3 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKP2 medgen_c0520806 Sudden unexplained death MedGen:C0520806 3 3 1.0000 condition_record_support_limited 20 0 2 Sudden_unexplained_death 344 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKP2 efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 Cardiac arrhythmia EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 3 3 1.0000 condition_record_support_limited 20 0 3 Cardiac_arrhythmia 344 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKHD1 human_phenotype_ontology_hp_0000119_human_phenotype_ontology_hp_0008658_human_phenotype_ontology_hp_0008688_human_phenotype_ontology_hp_0008704_human_phenotype_ontology_hp_0008713_mondo_mondo_0019356_medgen_c0042063_orphanet_83001 Urogenital tract malformation Human_Phenotype_Ontology:HP:0000119,Human_Phenotype_Ontology:HP:0008658,Human_Phenotype_Ontology:HP:0008688,Human_Phenotype_Ontology:HP:0008704,Human_Phenotype_Ontology:HP:0008713,MONDO:MONDO:0019356,MedGen:C0042063,Orphanet:83001 3 3 1.0000 condition_record_support_limited 20 0 3 Urogenital_tract_malformation 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PKHD1 human_phenotype_ontology_hp_0005562_medgen_c0431718 Multiple renal cysts Human_Phenotype_Ontology:HP:0005562,MedGen:C0431718 3 3 1.0000 condition_record_support_limited 20 0 3 Multiple_renal_cysts 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PKHD1 mondo_mondo_0019741_medgen_c5680285_orphanet_93587 Familial cystic renal disease MONDO:MONDO:0019741,MedGen:C5680285,Orphanet:93587 3 3 1.0000 condition_record_support_limited 20 0 1 Familial_cystic_renal_disease 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PKHD1 mondo_mondo_0010913_medgen_c0162510_omim_600643_orphanet_53035 Caroli disease MONDO:MONDO:0010913,MedGen:C0162510,OMIM:600643,Orphanet:53035 3 3 1.0000 condition_record_support_limited 20 0 2 Caroli_disease 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PKD2 human_phenotype_ontology_hp_0000088_human_phenotype_ontology_hp_0000107_human_phenotype_ontology_hp_0000109_mondo_mondo_0002473_medgen_c3887499 Renal cyst Human_Phenotype_Ontology:HP:0000088,Human_Phenotype_Ontology:HP:0000107,Human_Phenotype_Ontology:HP:0000109,MONDO:MONDO:0002473,MedGen:C3887499 3 3 1.0000 condition_record_support_limited 20 0 2 Renal_cyst 428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD1 mondo_mondo_0008265_medgen_c0887850_omim_174050_orphanet_2924 Polycystic liver disease 1 MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924 3 3 1.0000 condition_record_support_limited 20 0 3 Polycystic_liver_disease_1 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKD1 human_phenotype_ontology_hp_0005562_medgen_c0431718 Multiple renal cysts Human_Phenotype_Ontology:HP:0005562,MedGen:C0431718 3 3 1.0000 condition_record_support_limited 20 0 3 Multiple_renal_cysts 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKD1 human_phenotype_ontology_hp_0001407_medgen_c0267834 Hepatic cysts Human_Phenotype_Ontology:HP:0001407,MedGen:C0267834 3 3 1.0000 condition_record_support_limited 20 0 3 Hepatic_cysts 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PITX2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PITX2 human_phenotype_ontology_hp_0007696_human_phenotype_ontology_hp_0007699_human_phenotype_ontology_hp_0007700_human_phenotype_ontology_hp_0008040_mondo_mondo_0019503_medgen_c1862839_omim_ps107250_orphanet_88632 Anterior segment dysgenesis Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632 3 3 1.0000 condition_record_support_limited 20 0 2 Anterior_segment_dysgenesis 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIKFYVE pikfyve_related_disorder PIKFYVE-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 PIKFYVE-related_disorder 24 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PIK3R2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 3 3 1.0000 condition_record_support_limited 20 0 3 Seizure 16 low_record_burden_interpretation_limited low_record_burden_gene PIK3R2 pik3r2_related_disorder PIK3R2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 PIK3R2-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene PIK3R1 mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 3 3 1.0000 condition_record_support_limited 20 0 2 Inherited_Immunodeficiency_Diseases 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3R1 mondo_mondo_0013038_medgen_c2752042_omim_612918_orphanet_140944 CLOVES syndrome MONDO:MONDO:0013038,MedGen:C2752042,OMIM:612918,Orphanet:140944 3 3 1.0000 condition_record_support_limited 20 0 2 CLOVES_syndrome 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CG mondo_mondo_0030717_medgen_c5676946_omim_619802 Immunodeficiency 97 with autoinflammation MONDO:MONDO:0030717,MedGen:C5676946,OMIM:619802 3 3 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_97_with_autoinflammation 4 low_record_burden_interpretation_limited low_record_burden_gene PIK3CA segmental_undergrowth_associated_with_lymphatic_malformation Segmental undergrowth associated with lymphatic malformation . 3 3 1.0000 condition_record_support_limited 20 0 3 Segmental_undergrowth_associated_with_lymphatic_malformation 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA medgen_c5681115_orphanet_458837 Rare combined vascular malformation MedGen:C5681115,Orphanet:458837 3 3 1.0000 condition_record_support_limited 20 0 3 Rare_combined_vascular_malformation 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA medgen_c1868358 OVARIAN CANCER, EPITHELIAL, SOMATIC MedGen:C1868358 3 3 1.0000 condition_record_support_limited 20 0 3 OVARIAN_CANCER,_EPITHELIAL,_SOMATIC 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0023644_medgen_c0220641 Lip and oral cavity carcinoma MONDO:MONDO:0023644,MedGen:C0220641 3 3 1.0000 condition_record_support_limited 20 0 2 Lip_and_oral_cavity_carcinoma 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA hemifacial_myohyperplasia_somatic HEMIFACIAL MYOHYPERPLASIA, SOMATIC . 3 3 1.0000 condition_record_support_limited 20 0 3 HEMIFACIAL_MYOHYPERPLASIA,_SOMATIC 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA cerebrofacial_vascular_metameric_syndrome_cvms Cerebrofacial Vascular Metameric Syndrome (CVMS) . 3 3 1.0000 condition_record_support_limited 20 0 3 Cerebrofacial_Vascular_Metameric_Syndrome_(CVMS) 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0025104_mondo_mondo_0016231_medgen_c0340803_orphanet_211247 Capillary malformation Human_Phenotype_Ontology:HP:0025104,MONDO:MONDO:0016231,MedGen:C0340803,Orphanet:211247 3 3 1.0000 condition_record_support_limited 20 0 3 Capillary_malformation 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA cerebral_cavernous_malformations_4_somatic CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC . 3 3 1.0000 condition_record_support_limited 20 0 3 CEREBRAL_CAVERNOUS_MALFORMATIONS_4,_SOMATIC 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGU mondo_mondo_0032824_medgen_c5231419_omim_618590 Glycosylphosphatidylinositol biosynthesis defect 21 MONDO:MONDO:0032824,MedGen:C5231419,OMIM:618590 3 3 1.0000 condition_record_support_limited 20 0 0 Glycosylphosphatidylinositol_biosynthesis_defect_21 3 low_record_burden_interpretation_limited low_record_burden_gene PIGT pigt_related_disorder PIGT-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 PIGT-related_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGT mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGQ pigq_related_disorder PIGQ-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 PIGQ-related_disorder 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGA neurodevelopmental_disorder_with_epilepsy_and_hemochromatosis Neurodevelopmental disorder with epilepsy and hemochromatosis MedGen:CN307964,OMIM:301072 3 3 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_epilepsy_and_hemochromatosis 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIEZO1 human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 3 3 1.0000 condition_record_support_limited 20 0 2 Non-immune_hydrops_fetalis 120 large_gene_or_donor_burden_stress_case donor_burden_stress PIEZO1 medgen_c5703066_omim_620207 Blood group, ER MedGen:C5703066,OMIM:620207 3 3 1.0000 condition_record_support_limited 20 0 3 Blood_group,_ER 120 large_gene_or_donor_burden_stress_case donor_burden_stress PIDD1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene PIBF1 pibf1_related_disorder PIBF1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 PIBF1-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene PI4KA mondo_mondo_0012876_medgen_c0398626_omim_612356 Heparin cofactor II deficiency MONDO:MONDO:0012876,MedGen:C0398626,OMIM:612356 3 3 1.0000 condition_record_support_limited 20 0 0 Heparin_cofactor_II_deficiency 42 large_gene_or_donor_burden_stress_case donor_burden_stress PHYH human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHKG2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHKA2 mondo_mondo_0700291_medgen_c0268147_orphanet_370 Glycogen phosphorylase kinase deficiency MONDO:MONDO:0700291,MedGen:C0268147,Orphanet:370 3 3 1.0000 condition_record_support_limited 20 0 2 Glycogen_phosphorylase_kinase_deficiency 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF6 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PGM3 mondo_mondo_0018037_medgen_c3887645_omim_ps147060_orphanet_331223 Hyper-IgE syndrome MONDO:MONDO:0018037,MedGen:C3887645,OMIM:PS147060,Orphanet:331223 3 3 1.0000 condition_record_support_limited 20 0 3 Hyper-IgE_syndrome 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PGM1 pgm1_related_disorder PGM1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 PGM1-related_disorder 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PGAP3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PGAM2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene PFN1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene PFAS phosphoribosylformylglycineamidine_synthase_deficiency Phosphoribosylformylglycineamidine synthase deficiency . 3 3 1.0000 condition_record_support_limited 20 0 0 Phosphoribosylformylglycineamidine_synthase_deficiency 8 low_record_burden_interpretation_limited low_record_burden_gene PEX6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 301 compact_adjacent_exon_block_opportunity local_compact_architecture PEX5 mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 Peroxisome biogenesis disorder MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 3 3 1.0000 condition_record_support_limited 20 0 1 Peroxisome_biogenesis_disorder 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX19 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PET100 mondo_mondo_0700250_medgen_c5435656_omim_220110 Mitochondrial complex IV deficiency, nuclear type 1 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 3 3 1.0000 condition_record_support_limited 20 0 3 Mitochondrial_complex_IV_deficiency,_nuclear_type_1 11 low_record_burden_interpretation_limited low_record_burden_gene PDZD9 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene PDZD7 mondo_mondo_0011558_medgen_c2931213_omim_605472_orphanet_231178_orphanet_886 Usher syndrome type 2C MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886 3 3 1.0000 condition_record_support_limited 20 0 3 Usher_syndrome_type_2C 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDXK mondo_mondo_0032792_medgen_c5193137_omim_618511 Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy MONDO:MONDO:0032792,MedGen:C5193137,OMIM:618511 3 3 1.0000 condition_record_support_limited 20 0 1 Neuropathy,_hereditary_motor_and_sensory,_type_VIc,_with_optic_atrophy 4 low_record_burden_interpretation_limited low_record_burden_gene PDHB condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDHA1 pdha1_related_disorder PDHA1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 PDHA1-related_disorder 395 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDGFRA mondo_mondo_0008285_medgen_c5193005_omim_175510 Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal MONDO:MONDO:0008285,MedGen:C5193005,OMIM:175510 3 3 1.0000 condition_record_support_limited 20 0 1 Polyps,_multiple_and_recurrent_inflammatory_fibroid,_gastrointestinal 7 low_record_burden_interpretation_limited low_record_burden_gene PDE6C pde6c_related_disorder PDE6C-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 PDE6C-related_disorder 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE4DIP condition_not_provided condition not provided . 3 3 1.0000 condition_record_support_limited 20 3 1 See_cases 3 low_record_burden_interpretation_limited low_record_burden_gene PDE3B cyp2r1_related_disorder CYP2R1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 CYP2R1-related_disorder 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE3A condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene PDE10A mondo_mondo_0014835_medgen_c4310791_omim_616922 Striatal degeneration, autosomal dominant 2 MONDO:MONDO:0014835,MedGen:C4310791,OMIM:616922 3 3 1.0000 condition_record_support_limited 20 0 3 Striatal_degeneration,_autosomal_dominant_2 11 low_record_burden_interpretation_limited low_record_burden_gene PDCD10 human_phenotype_ontology_hp_0033522_mondo_mondo_0000820_medgen_c2919945_omim_116860_orphanet_221061 Cerebral cavernous malformation Human_Phenotype_Ontology:HP:0033522,MONDO:MONDO:0000820,MedGen:C2919945,OMIM:116860,Orphanet:221061 3 3 1.0000 condition_record_support_limited 20 0 3 Cerebral_cavernous_malformation 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCSK9 mondo_mondo_0018328_medgen_c0342881_orphanet_391665 Homozygous familial hypercholesterolemia MONDO:MONDO:0018328,MedGen:C0342881,Orphanet:391665 3 3 1.0000 condition_record_support_limited 20 0 3 Homozygous_familial_hypercholesterolemia 18 low_record_burden_interpretation_limited low_record_burden_gene PCK2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene PCK1 mondo_mondo_0009866_medgen_c5574905_omim_261680_orphanet_2880 Phosphoenolpyruvate carboxykinase deficiency, cytosolic MONDO:MONDO:0009866,MedGen:C5574905,OMIM:261680,Orphanet:2880 3 3 1.0000 condition_record_support_limited 20 0 0 Phosphoenolpyruvate_carboxykinase_deficiency,_cytosolic 5 low_record_burden_interpretation_limited low_record_burden_gene PCDH19 human_phenotype_ontology_hp_0001306_human_phenotype_ontology_hp_0002069_human_phenotype_ontology_hp_0002407_human_phenotype_ontology_hp_0007252_medgen_c0494475 Bilateral tonic-clonic seizure Human_Phenotype_Ontology:HP:0001306,Human_Phenotype_Ontology:HP:0002069,Human_Phenotype_Ontology:HP:0002407,Human_Phenotype_Ontology:HP:0007252,MedGen:C0494475 3 3 1.0000 condition_record_support_limited 20 0 1 Bilateral_tonic-clonic_seizure 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCCA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 298 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCARE pcare_related_disorder PCARE-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 PCARE-related_disorder 151 compact_adjacent_exon_block_opportunity local_compact_architecture PBX3 mondo_mondo_0021155_medgen_cn323387 X-linked cone-rod dystrophy MONDO:MONDO:0021155,MedGen:CN323387 3 3 1.0000 condition_record_support_limited 20 0 0 X-linked_cone-rod_dystrophy 3 low_record_burden_interpretation_limited low_record_burden_gene PBX1 pbx1_related_disorder PBX1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 PBX1-related_disorder 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 3 3 1.0000 condition_record_support_limited 20 0 2 Developmental_cataract 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX5 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene PAX3 human_phenotype_ontology_hp_0006779_mondo_mondo_0009994_medgen_c0206655_omim_268220_orphanet_780_orphanet_99756 Alveolar rhabdomyosarcoma Human_Phenotype_Ontology:HP:0006779,MONDO:MONDO:0009994,MedGen:C0206655,OMIM:268220,Orphanet:780,Orphanet:99756 3 3 1.0000 condition_record_support_limited 20 0 3 Alveolar_rhabdomyosarcoma 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX2 human_phenotype_ontology_hp_0012588_mondo_mondo_0044765_medgen_c0403397 Steroid-resistant nephrotic syndrome Human_Phenotype_Ontology:HP:0012588,MONDO:MONDO:0044765,MedGen:C0403397 3 3 1.0000 condition_record_support_limited 20 0 3 Steroid-resistant_nephrotic_syndrome 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX2 human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 3 3 1.0000 condition_record_support_limited 20 0 3 Focal_segmental_glomerulosclerosis 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAPPA2 mondo_mondo_0859182_medgen_c5561968_omim_619489 Short stature, Dauber-Argente type MONDO:MONDO:0859182,MedGen:C5561968,OMIM:619489 3 3 1.0000 condition_record_support_limited 20 0 0 Short_stature,_Dauber-Argente_type 10 low_record_burden_interpretation_limited low_record_burden_gene PAN2 pan2_related_multiple_congenital_anomalies_syndrome PAN2-related multiple congenital anomalies syndrome . 3 3 1.0000 condition_record_support_limited 20 0 2 PAN2-related_multiple_congenital_anomalies_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene PALB2 mondo_mondo_0009831_medgen_c0346647 Malignant tumor of pancreas MONDO:MONDO:0009831,MedGen:C0346647 3 3 1.0000 condition_record_support_limited 20 0 2 Malignant_tumor_of_pancreas 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PALB2 inherited_prostate_cancer Inherited prostate cancer . 3 3 1.0000 condition_record_support_limited 20 0 3 Inherited_prostate_cancer 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PALB2 inherited_ovarian_cancer_without_breast_cancer Inherited ovarian cancer (without breast cancer) . 3 3 1.0000 condition_record_support_limited 20 0 3 Inherited_ovarian_cancer_(without_breast_cancer) 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PALB2 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 3 3 1.0000 condition_record_support_limited 20 0 3 Colorectal_cancer 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PAK3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAK1 pak1_related_disorder PAK1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 PAK1-related_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAICS mondo_mondo_0859244_medgen_c1291561_omim_619859 Phosphoribosylaminoimidazole carboxylase deficiency MONDO:MONDO:0859244,MedGen:C1291561,OMIM:619859 3 3 1.0000 condition_record_support_limited 20 0 0 Phosphoribosylaminoimidazole_carboxylase_deficiency 3 low_record_burden_interpretation_limited low_record_burden_gene PAH mondo_mondo_0024533_medgen_c4552070_omim_178600_orphanet_422 Pulmonary hypertension, primary, 1 MONDO:MONDO:0024533,MedGen:C4552070,OMIM:178600,Orphanet:422 3 3 1.0000 condition_record_support_limited 20 0 3 Pulmonary_hypertension,_primary,_1 886 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAFAH1B1 human_phenotype_ontology_hp_0032409_mondo_mondo_0020491_medgen_c1848201_orphanet_99796 Subcortical band heterotopia Human_Phenotype_Ontology:HP:0032409,MONDO:MONDO:0020491,MedGen:C1848201,Orphanet:99796 3 3 1.0000 condition_record_support_limited 20 0 2 Subcortical_band_heterotopia 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAFAH1B1 pafah1b1_related_disorder PAFAH1B1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 PAFAH1B1-related_disorder 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAFAH1B1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PACSIN3 mondo_mondo_0979897_medgen_cn379927_omim_621343 Congenital myopathy 27 MONDO:MONDO:0979897,MedGen:CN379927,OMIM:621343 3 3 1.0000 condition_record_support_limited 20 0 0 Congenital_myopathy_27 3 low_record_burden_interpretation_limited low_record_burden_gene PACS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene PACS1 mondo_mondo_0014006_medgen_c3554343_omim_615009_orphanet_329224 Schuurs-Hoeijmakers syndrome MONDO:MONDO:0014006,MedGen:C3554343,OMIM:615009,Orphanet:329224 3 3 1.0000 condition_record_support_limited 20 0 1 Schuurs-Hoeijmakers_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene P3H1 p3h1_related_disorder P3H1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 P3H1-related_disorder 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture P3H1 mondo_mondo_0009804_medgen_c0268362_omim_259420_orphanet_216812_orphanet_666 Osteogenesis imperfecta type III MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420,Orphanet:216812,Orphanet:666 3 3 1.0000 condition_record_support_limited 20 0 3 Osteogenesis_imperfecta_type_III 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture P2RY12 mondo_mondo_0012354_medgen_c1853278_omim_609821_orphanet_36355 Platelet-type bleeding disorder 8 MONDO:MONDO:0012354,MedGen:C1853278,OMIM:609821,Orphanet:36355 3 3 1.0000 condition_record_support_limited 20 0 1 Platelet-type_bleeding_disorder_8 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OXTR mondo_mondo_0012736_medgen_c2678485_omim_611818_orphanet_101016_orphanet_768 Long QT syndrome 9 MONDO:MONDO:0012736,MedGen:C2678485,OMIM:611818,Orphanet:101016,Orphanet:768 3 3 1.0000 condition_record_support_limited 20 0 3 Long_QT_syndrome_9 16 low_record_burden_interpretation_limited low_record_burden_gene OTX2 human_phenotype_ontology_hp_0000528_human_phenotype_ontology_hp_0001485_human_phenotype_ontology_hp_0007664_medgen_c0003119 Anophthalmia Human_Phenotype_Ontology:HP:0000528,Human_Phenotype_Ontology:HP:0001485,Human_Phenotype_Ontology:HP:0007664,MedGen:C0003119 3 3 1.0000 condition_record_support_limited 20 0 0 Anophthalmia 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTULIN condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene OTULIN mondo_mondo_0031030_medgen_c5774192_omim_619986 Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection MONDO:MONDO:0031030,MedGen:C5774192,OMIM:619986 3 3 1.0000 condition_record_support_limited 20 0 2 Immunodeficiency_107,_susceptibility_to_invasive_staphylococcus_aureus_infection 17 low_record_burden_interpretation_limited low_record_burden_gene OTC otc_related_disorder OTC-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 OTC-related_disorder 438 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ORC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPTN mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPN1LW mondo_mondo_0010565_medgen_c0155015_omim_303900 Protan defect MONDO:MONDO:0010565,MedGen:C0155015,OMIM:303900 3 3 1.0000 condition_record_support_limited 20 0 1 Protan_defect 9 low_record_burden_interpretation_limited low_record_burden_gene OPN1LW human_phenotype_ontology_hp_0007939_mondo_mondo_0010563_medgen_c0339537_omim_303700_orphanet_16 Cone monochromatism Human_Phenotype_Ontology:HP:0007939,MONDO:MONDO:0010563,MedGen:C0339537,OMIM:303700,Orphanet:16 3 3 1.0000 condition_record_support_limited 20 0 1 Cone_monochromatism 9 low_record_burden_interpretation_limited low_record_burden_gene OPHN1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA1 human_phenotype_ontology_hp_0001138_human_phenotype_ontology_hp_0007806_mondo_mondo_0002135_medgen_c3887709 Optic neuropathy Human_Phenotype_Ontology:HP:0001138,Human_Phenotype_Ontology:HP:0007806,MONDO:MONDO:0002135,MedGen:C3887709 3 3 1.0000 condition_record_support_limited 20 0 2 Optic_neuropathy 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA1 mondo_mondo_0021944_medgen_c1852271_omim_ps609129 Auditory neuropathy MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 3 3 1.0000 condition_record_support_limited 20 0 0 Auditory_neuropathy 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ODAPH odaph_related_disorder ODAPH-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 ODAPH-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene ODAD1 odad1_related_disorder ODAD1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 ODAD1-related_disorder 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OCRL ocrl_related_disorder OCRL-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 OCRL-related_disorder 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OCA2 albinism_or_congenital_nystagmus Albinism or congenital nystagmus . 3 3 1.0000 condition_record_support_limited 20 0 3 Albinism_or_congenital_nystagmus 309 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OCA2 human_phenotype_ontology_hp_0001022_mondo_mondo_0043209_medgen_c0001916 Albinism Human_Phenotype_Ontology:HP:0001022,MONDO:MONDO:0043209,MedGen:C0001916 3 3 1.0000 condition_record_support_limited 20 0 2 Albinism 309 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NXN mondo_mondo_0032800_medgen_c5193143_omim_618529 Robinow syndrome, autosomal recessive 2 MONDO:MONDO:0032800,MedGen:C5193143,OMIM:618529 3 3 1.0000 condition_record_support_limited 20 0 1 Robinow_syndrome,_autosomal_recessive_2 7 low_record_burden_interpretation_limited low_record_burden_gene NUS1 nus1_related_disorder NUS1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 NUS1-related_disorder 81 compact_adjacent_exon_block_opportunity local_compact_architecture NUP93 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 3 3 1.0000 condition_record_support_limited 20 0 3 Nephrotic_syndrome 19 low_record_burden_interpretation_limited low_record_burden_gene NUP88 mondo_mondo_0100104_medgen_c4760578_omim_618393 Fetal akinesia deformation sequence 4 MONDO:MONDO:0100104,MedGen:C4760578,OMIM:618393 3 3 1.0000 condition_record_support_limited 20 0 0 Fetal_akinesia_deformation_sequence_4 3 low_record_burden_interpretation_limited low_record_burden_gene NUP54 mondo_mondo_0957385_medgen_c5830592_omim_620427 Dystonia 37, early-onset, with striatal lesions MONDO:MONDO:0957385,MedGen:C5830592,OMIM:620427 3 3 1.0000 condition_record_support_limited 20 0 0 Dystonia_37,_early-onset,_with_striatal_lesions 3 low_record_burden_interpretation_limited low_record_burden_gene NUP160 mondo_mondo_0032582_medgen_c4748552_omim_618178 Nephrotic syndrome, type 19 MONDO:MONDO:0032582,MedGen:C4748552,OMIM:618178 3 3 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome,_type_19 8 low_record_burden_interpretation_limited low_record_burden_gene NUP133 mondo_mondo_0032581_medgen_c4748549_omim_618177 Nephrotic syndrome, type 18 MONDO:MONDO:0032581,MedGen:C4748549,OMIM:618177 3 3 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome,_type_18 8 low_record_burden_interpretation_limited low_record_burden_gene NUP107 mondo_mondo_0032692_medgen_c5193044_omim_618348 Galloway-Mowat syndrome 7 MONDO:MONDO:0032692,MedGen:C5193044,OMIM:618348 3 3 1.0000 condition_record_support_limited 20 0 2 Galloway-Mowat_syndrome_7 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NUDT2 mondo_mondo_0859240_medgen_c5676969_omim_619844_orphanet_694937 Intellectual developmental disorder with or without peripheral neuropathy MONDO:MONDO:0859240,MedGen:C5676969,OMIM:619844,Orphanet:694937 3 3 1.0000 condition_record_support_limited 20 0 1 Intellectual_developmental_disorder_with_or_without_peripheral_neuropathy 3 low_record_burden_interpretation_limited low_record_burden_gene NTRK1 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 3 3 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 199 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NTN1 mondo_mondo_0032641_medgen_c4748869_omim_618264 Mirror movements 4 MONDO:MONDO:0032641,MedGen:C4748869,OMIM:618264 3 3 1.0000 condition_record_support_limited 20 0 0 Mirror_movements_4 3 low_record_burden_interpretation_limited low_record_burden_gene NTHL1 mondo_mondo_0100502_medgen_cn315924 NTHL1-deficiency tumor predisposition syndrome MONDO:MONDO:0100502,MedGen:CN315924 3 3 1.0000 condition_record_support_limited 20 0 1 NTHL1-deficiency_tumor_predisposition_syndrome 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NT5E mondo_mondo_0008895_medgen_c1859372_omim_211800_orphanet_289601 Hereditary arterial and articular multiple calcification syndrome MONDO:MONDO:0008895,MedGen:C1859372,OMIM:211800,Orphanet:289601 3 3 1.0000 condition_record_support_limited 20 0 1 Hereditary_arterial_and_articular_multiple_calcification_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene NT5C2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NSUN6 mondo_mondo_0968944_medgen_c5935601_omim_620779 Intellectual developmental disorder, autosomal recessive 82 MONDO:MONDO:0968944,MedGen:C5935601,OMIM:620779 3 3 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder,_autosomal_recessive_82 3 low_record_burden_interpretation_limited low_record_burden_gene NSUN3 mondo_mondo_0033566_medgen_c5436602_omim_619012 Combined oxidative phosphorylation deficiency 48 MONDO:MONDO:0033566,MedGen:C5436602,OMIM:619012 3 3 1.0000 condition_record_support_limited 20 0 0 Combined_oxidative_phosphorylation_deficiency_48 5 low_record_burden_interpretation_limited low_record_burden_gene NSUN2 mondo_mondo_0009861_medgen_c0031485_omim_261600_orphanet_716 Phenylketonuria MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716 3 3 1.0000 condition_record_support_limited 20 0 2 Phenylketonuria 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NSMCE2 mondo_mondo_0014991_medgen_c4310647_omim_617253 Seckel syndrome 10 MONDO:MONDO:0014991,MedGen:C4310647,OMIM:617253 3 3 1.0000 condition_record_support_limited 20 0 1 Seckel_syndrome_10 7 low_record_burden_interpretation_limited low_record_burden_gene NSDHL mondo_mondo_0010441_medgen_c3151781_omim_300831_orphanet_251383 CK syndrome MONDO:MONDO:0010441,MedGen:C3151781,OMIM:300831,Orphanet:251383 3 3 1.0000 condition_record_support_limited 20 0 1 CK_syndrome 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NSD2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRXN1 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 3 3 1.0000 condition_record_support_limited 20 0 2 Autism_spectrum_disorder 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRL human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRL mondo_mondo_0700386_medgen_cn379999_omim_621371 Enhanced S-cone syndrome 2 MONDO:MONDO:0700386,MedGen:CN379999,OMIM:621371 3 3 1.0000 condition_record_support_limited 20 0 3 Enhanced_S-cone_syndrome_2 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRIP1 mondo_mondo_0032646_medgen_c4748921_omim_618270 Congenital anomalies of kidney and urinary tract 3 MONDO:MONDO:0032646,MedGen:C4748921,OMIM:618270 3 3 1.0000 condition_record_support_limited 20 0 1 Congenital_anomalies_of_kidney_and_urinary_tract_3 3 low_record_burden_interpretation_limited low_record_burden_gene NRAS human_phenotype_ontology_hp_0005600_human_phenotype_ontology_hp_0005604_mondo_mondo_0044792_medgen_c1842036_omim_137550_orphanet_626 Large congenital melanocytic nevus Human_Phenotype_Ontology:HP:0005600,Human_Phenotype_Ontology:HP:0005604,MONDO:MONDO:0044792,MedGen:C1842036,OMIM:137550,Orphanet:626 3 3 1.0000 condition_record_support_limited 20 0 3 Large_congenital_melanocytic_nevus 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAS human_phenotype_ontology_hp_0012209_mondo_mondo_0011908_medgen_c0349639_omim_607785_orphanet_86834 Juvenile myelomonocytic leukemia Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834 3 3 1.0000 condition_record_support_limited 20 0 3 Juvenile_myelomonocytic_leukemia 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAS human_phenotype_ontology_hp_0010816_mondo_mondo_0008093_medgen_c0334082_omim_162900_orphanet_79414 Epidermal nevus Human_Phenotype_Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414 3 3 1.0000 condition_record_support_limited 20 0 3 Epidermal_nevus 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAS cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 3 3 1.0000 condition_record_support_limited 20 0 2 Cardiovascular_phenotype 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR5A1 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 3 3 1.0000 condition_record_support_limited 20 0 1 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR5A1 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 3 3 1.0000 condition_record_support_limited 20 0 1 Male_infertility 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR3C2 mondo_mondo_0011517_medgen_c1854631_omim_605115_orphanet_88660 Pseudohyperaldosteronism type 2 MONDO:MONDO:0011517,MedGen:C1854631,OMIM:605115,Orphanet:88660 3 3 1.0000 condition_record_support_limited 20 0 3 Pseudohyperaldosteronism_type_2 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR2F2 mondo_mondo_0030049_medgen_c5394441_omim_618901 46,xx sex reversal 5 MONDO:MONDO:0030049,MedGen:C5394441,OMIM:618901 3 3 1.0000 condition_record_support_limited 20 0 2 46,xx_sex_reversal_5 35 compact_adjacent_exon_block_opportunity local_compact_architecture NR1H4 nr1h4_related_disorder NR1H4-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 NR1H4-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene NPRL2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPR2 monogenic_short_statue Monogenic short statue . 3 3 1.0000 condition_record_support_limited 20 0 1 Monogenic_short_statue 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPR2 mondo_mondo_0014924_medgen_c4310709_omim_617116 Epilepsy, familial focal, with variable foci 2 MONDO:MONDO:0014924,MedGen:C4310709,OMIM:617116 3 3 1.0000 condition_record_support_limited 20 0 2 Epilepsy,_familial_focal,_with_variable_foci_2 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHS2 human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 3 3 1.0000 condition_record_support_limited 20 0 3 Focal_segmental_glomerulosclerosis 158 compact_adjacent_exon_block_opportunity local_compact_architecture NPHS1 infantile_nephrotic_syndrome Infantile Nephrotic syndrome . 3 3 1.0000 condition_record_support_limited 20 0 3 Infantile_Nephrotic_syndrome 468 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHS1 human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 3 3 1.0000 condition_record_support_limited 20 0 3 Focal_segmental_glomerulosclerosis 468 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHS1 human_phenotype_ontology_hp_0008677_mondo_mondo_0002350_mesh_c535761_medgen_c3501848_omim_ps256300 Congenital nephrotic syndrome Human_Phenotype_Ontology:HP:0008677,MONDO:MONDO:0002350,MeSH:C535761,MedGen:C3501848,OMIM:PS256300 3 3 1.0000 condition_record_support_limited 20 0 3 Congenital_nephrotic_syndrome 468 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP4 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NOTCH3 human_phenotype_ontology_hp_0001297_human_phenotype_ontology_hp_0002452_mondo_mondo_0005098_mesh_d020521_medgen_c0038454 Stroke disorder Human_Phenotype_Ontology:HP:0001297,Human_Phenotype_Ontology:HP:0002452,MONDO:MONDO:0005098,MeSH:D020521,MedGen:C0038454 3 3 1.0000 condition_record_support_limited 20 0 3 Stroke_disorder 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH3 human_phenotype_ontology_hp_0002077_mondo_mondo_0005475_medgen_c0154723 Migraine with aura Human_Phenotype_Ontology:HP:0002077,MONDO:MONDO:0005475,MedGen:C0154723 3 3 1.0000 condition_record_support_limited 20 0 3 Migraine_with_aura 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 163 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOD2 mondo_mondo_0007191_medgen_c0004943_omim_109650_orphanet_117 Behcet disease MONDO:MONDO:0007191,MedGen:C0004943,OMIM:109650,Orphanet:117 3 3 1.0000 condition_record_support_limited 20 0 0 Behcet_disease 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NOBOX condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene NLRP5 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene NLRP1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene NLRP1 gene_107988031_mondo_mondo_0014089_medgen_c3808876_omim_615225_orphanet_352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome Gene:107988031,MONDO:MONDO:0014089,MedGen:C3808876,OMIM:615225,Orphanet:352662 3 3 1.0000 condition_record_support_limited 20 0 2 Corneal_intraepithelial_dyskeratosis-palmoplantar_hyperkeratosis-laryngeal_dyskeratosis_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene NKX2-5 mondo_mondo_0013749_medgen_c3280785_omim_614432 Ventricular septal defect 3 MONDO:MONDO:0013749,MedGen:C3280785,OMIM:614432 3 3 1.0000 condition_record_support_limited 20 0 1 Ventricular_septal_defect_3 125 compact_adjacent_exon_block_opportunity local_compact_architecture NKX2-5 human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Abnormal cardiovascular system morphology Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 3 3 1.0000 condition_record_support_limited 20 0 1 Abnormal_cardiovascular_system_morphology 125 compact_adjacent_exon_block_opportunity local_compact_architecture NIPSNAP3B cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 3 3 1.0000 condition_record_support_limited 20 0 0 Cardiovascular_phenotype 9 low_record_burden_interpretation_limited low_record_burden_gene NIPBL human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL mondo_mondo_0016033_medgen_c0270972_omim_ps122470_orphanet_199 De Lange syndrome MONDO:MONDO:0016033,MedGen:C0270972,OMIM:PS122470,Orphanet:199 3 3 1.0000 condition_record_support_limited 20 0 1 De_Lange_syndrome 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPAL4 mondo_mondo_0017265_medgen_c1274215_omim_ps242300_orphanet_281097 Autosomal recessive congenital ichthyosis MONDO:MONDO:0017265,MedGen:C1274215,OMIM:PS242300,Orphanet:281097 3 3 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_congenital_ichthyosis 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NIPA1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene NICN1 mondo_mondo_0958192_medgen_c5830559_omim_620398 Glycine encephalopathy 2 MONDO:MONDO:0958192,MedGen:C5830559,OMIM:620398 3 3 1.0000 condition_record_support_limited 20 0 2 Glycine_encephalopathy_2 17 low_record_burden_interpretation_limited low_record_burden_gene NHS nhs_related_disorder NHS-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 NHS-related_disorder 76 compact_adjacent_exon_block_opportunity local_compact_architecture NHP2 mondo_mondo_0013519_medgen_c3151441_omim_613987_orphanet_1775 Dyskeratosis congenita, autosomal recessive 2 MONDO:MONDO:0013519,MedGen:C3151441,OMIM:613987,Orphanet:1775 3 3 1.0000 condition_record_support_limited 20 0 3 Dyskeratosis_congenita,_autosomal_recessive_2 3 low_record_burden_interpretation_limited low_record_burden_gene NHP2 mondo_mondo_0009136_medgen_c1857144_omim_224230_orphanet_1775 Dyskeratosis congenita, autosomal recessive 1 MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230,Orphanet:1775 3 3 1.0000 condition_record_support_limited 20 0 3 Dyskeratosis_congenita,_autosomal_recessive_1 3 low_record_burden_interpretation_limited low_record_burden_gene NHLRC2 condition_not_provided condition not provided .|MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 See_cases|not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene NGF mondo_mondo_0012092_medgen_c0020075_omim_608654_orphanet_64752 Congenital sensory neuropathy with selective loss of small myelinated fibers MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654,Orphanet:64752 3 3 1.0000 condition_record_support_limited 20 0 2 Congenital_sensory_neuropathy_with_selective_loss_of_small_myelinated_fibers 3 low_record_burden_interpretation_limited low_record_burden_gene NFU1 nfu1_related_disorder NFU1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 NFU1-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene NFKBIA condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene NFKB2 mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 3 3 1.0000 condition_record_support_limited 20 0 2 Inherited_Immunodeficiency_Diseases 17 low_record_burden_interpretation_limited low_record_burden_gene NFKB1 nfkb1_related_disorder NFKB1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 NFKB1-related_disorder 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIX human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NF1 human_phenotype_ontology_hp_0100698_medgen_c1827970 Subcutaneous neurofibroma Human_Phenotype_Ontology:HP:0100698,MedGen:C1827970 3 3 1.0000 condition_record_support_limited 20 0 3 Subcutaneous_neurofibroma 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 mondo_mondo_0018208_medgen_c5779636_orphanet_363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion MONDO:MONDO:0018208,MedGen:C5779636,Orphanet:363700 3 3 1.0000 condition_record_support_limited 20 0 2 Neurofibromatosis_type_1_due_to_NF1_mutation_or_intragenic_deletion 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 mondo_mondo_0021061_medgen_c0162678 Neurofibromatosis MONDO:MONDO:0021061,MedGen:C0162678 3 3 1.0000 condition_record_support_limited 20 0 0 Neurofibromatosis 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0030052_medgen_c1834297 Inguinal freckling Human_Phenotype_Ontology:HP:0030052,MedGen:C1834297 3 3 1.0000 condition_record_support_limited 20 0 3 Inguinal_freckling 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 mondo_mondo_0015446_medgen_c3496579_orphanet_1456 Atypical coarctation of aorta MONDO:MONDO:0015446,MedGen:C3496579,Orphanet:1456 3 3 1.0000 condition_record_support_limited 20 0 3 Atypical_coarctation_of_aorta 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NEXN condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEXMIF human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 3 3 1.0000 condition_record_support_limited 20 0 2 Seizure 218 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEUROD2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene NEK9 mondo_mondo_0013660_medgen_c3280309_omim_614262 Arthrogryposis, Perthes disease, and upward gaze palsy MONDO:MONDO:0013660,MedGen:C3280309,OMIM:614262 3 3 1.0000 condition_record_support_limited 20 0 2 Arthrogryposis,_Perthes_disease,_and_upward_gaze_palsy 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEK1 mondo_mondo_0020128_medgen_c0085084_orphanet_98503 Motor neuron disease MONDO:MONDO:0020128,MedGen:C0085084,Orphanet:98503 3 3 1.0000 condition_record_support_limited 20 0 2 Motor_neuron_disease 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEFL human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Peripheral neuropathy Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 3 3 1.0000 condition_record_support_limited 20 0 2 Peripheral_neuropathy 51 compact_adjacent_exon_block_opportunity local_compact_architecture NEFL mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 51 compact_adjacent_exon_block_opportunity local_compact_architecture NEFL mondo_mondo_0036484_medgen_c4693509_omim_617882 Charcot-Marie-Tooth disease, dominant intermediate G MONDO:MONDO:0036484,MedGen:C4693509,OMIM:617882 3 3 1.0000 condition_record_support_limited 20 0 3 Charcot-Marie-Tooth_disease,_dominant_intermediate_G 51 compact_adjacent_exon_block_opportunity local_compact_architecture NEDD4L condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene NEDD4L periventricular_nodular_heterotopia_with_syndactyly_cleft_palate_and_developmental_delay Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay . 3 3 1.0000 condition_record_support_limited 20 0 3 Periventricular_nodular_heterotopia_with_syndactyly,_cleft_palate_and_developmental_delay 9 low_record_burden_interpretation_limited low_record_burden_gene NECTIN4 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene NDUFV1 mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 Mitochondrial complex I deficiency MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 3 3 1.0000 condition_record_support_limited 20 0 3 Mitochondrial_complex_I_deficiency 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFS7 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 3 3 1.0000 condition_record_support_limited 20 0 2 Leigh_syndrome 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFS3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene NDUFC1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene NDUFB3 mondo_mondo_0032629_medgen_c4748806_omim_618246 Mitochondrial complex I deficiency, nuclear type 25 MONDO:MONDO:0032629,MedGen:C4748806,OMIM:618246 3 3 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency,_nuclear_type_25 5 low_record_burden_interpretation_limited low_record_burden_gene NDUFB11 mondo_mondo_0026721_medgen_c4746985_omim_301021 Mitochondrial complex I deficiency, nuclear type 30 MONDO:MONDO:0026721,MedGen:C4746985,OMIM:301021 3 3 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_complex_I_deficiency,_nuclear_type_30 11 low_record_burden_interpretation_limited low_record_burden_gene NDUFAF6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 34 compact_adjacent_exon_block_opportunity local_compact_architecture NDUFAF5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 117 compact_adjacent_exon_block_opportunity local_compact_architecture NDUFAF2 mondo_mondo_0019569_medgen_c0751039_omim_216400_orphanet_191_orphanet_90321 Cockayne syndrome type 1 MONDO:MONDO:0019569,MedGen:C0751039,OMIM:216400,Orphanet:191,Orphanet:90321 3 3 1.0000 condition_record_support_limited 20 0 3 Cockayne_syndrome_type_1 23 compact_adjacent_exon_block_opportunity local_compact_architecture NDUFAF1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene NDUFA8 mondo_mondo_0030997_medgen_c5543281_omim_619272 Mitochondrial complex I deficiency, nuclear type 37 MONDO:MONDO:0030997,MedGen:C5543281,OMIM:619272 3 3 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_I_deficiency,_nuclear_type_37 3 low_record_burden_interpretation_limited low_record_burden_gene NDUFA2 mondo_mondo_0032618_medgen_c4748770_omim_618235 Mitochondrial complex I deficiency, nuclear type 13 MONDO:MONDO:0032618,MedGen:C4748770,OMIM:618235 3 3 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency,_nuclear_type_13 3 low_record_burden_interpretation_limited low_record_burden_gene NDUFA13 mondo_mondo_0011836_medgen_c0749424_omim_607464_orphanet_146 Hurthle cell carcinoma of thyroid MONDO:MONDO:0011836,MedGen:C0749424,OMIM:607464,Orphanet:146 3 3 1.0000 condition_record_support_limited 20 0 2 Hurthle_cell_carcinoma_of_thyroid 6 low_record_burden_interpretation_limited low_record_burden_gene NDUFA11 mondo_mondo_0032619_medgen_c4748777_omim_618236 Mitochondrial complex I deficiency, nuclear type 14 MONDO:MONDO:0032619,MedGen:C4748777,OMIM:618236 3 3 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency,_nuclear_type_14 6 low_record_burden_interpretation_limited low_record_burden_gene NDUFA10 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene NCKAP1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCAPD2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene NCAPD2 mondo_mondo_0054804_medgen_c4693831_omim_617983 Microcephaly 21, primary, autosomal recessive MONDO:MONDO:0054804,MedGen:C4693831,OMIM:617983 3 3 1.0000 condition_record_support_limited 20 0 0 Microcephaly_21,_primary,_autosomal_recessive 6 low_record_burden_interpretation_limited low_record_burden_gene NBN mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 3 3 1.0000 condition_record_support_limited 20 0 3 Familial_cancer_of_breast 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NBN human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 3 3 1.0000 condition_record_support_limited 20 0 3 Breast_carcinoma 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NBEAL2 nbeal2_related_disorder NBEAL2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 NBEAL2-related_disorder 72 large_gene_or_donor_burden_stress_case donor_burden_stress NBAS mondo_mondo_0000023_medgen_c5681094_omim_ps615438_orphanet_464724 Infantile liver failure MONDO:MONDO:0000023,MedGen:C5681094,OMIM:PS615438,Orphanet:464724 3 3 1.0000 condition_record_support_limited 20 0 2 Infantile_liver_failure 245 large_gene_or_donor_burden_stress_case donor_burden_stress NAXD condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene NAV3 mondo_mondo_0976285_medgen_c6012716_omim_621182 Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities MONDO:MONDO:0976285,MedGen:C6012716,OMIM:621182 3 3 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_poor_or_absent_speech,_dysmorphic_facies,_and_behavioral_abnormalities 3 low_record_burden_interpretation_limited low_record_burden_gene NAPB mondo_mondo_0031055_medgen_c5774215_omim_620033 Developmental and epileptic encephalopathy-107 MONDO:MONDO:0031055,MedGen:C5774215,OMIM:620033 3 3 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy-107 3 low_record_burden_interpretation_limited low_record_burden_gene NALCN human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 3 3 1.0000 condition_record_support_limited 20 0 3 Fetal_akinesia_deformation_sequence_1 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NALCN human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 3 3 1.0000 condition_record_support_limited 20 0 3 Arthrogryposis_multiplex_congenita 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NALCN human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 3 3 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NAGS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 113 compact_adjacent_exon_block_opportunity local_compact_architecture NAGLU mucopolysaccharidosistype_iiib Mucopolysaccharidosistype IIIB . 3 3 1.0000 condition_record_support_limited 20 0 3 Mucopolysaccharidosistype_IIIB 295 compact_adjacent_exon_block_opportunity local_compact_architecture NAGLU human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 3 3 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_metabolism/homeostasis 295 compact_adjacent_exon_block_opportunity local_compact_architecture NAF1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene NAE1 mondo_mondo_0859361_medgen_c5774298_omim_620210 Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia MONDO:MONDO:0859361,MedGen:C5774298,OMIM:620210 3 3 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_dysmorphic_facies_and_ischiopubic_hypoplasia 3 low_record_burden_interpretation_limited low_record_burden_gene MYRF mondo_mondo_0010836_medgen_c1838502_omim_600165_orphanet_35612 Nanophthalmos 1 MONDO:MONDO:0010836,MedGen:C1838502,OMIM:600165,Orphanet:35612 3 3 1.0000 condition_record_support_limited 20 0 1 Nanophthalmos_1 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYRF mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYRF mondo_mondo_0020853_medgen_c4722446_omim_618113 Encephalitis/encephalopathy, mild, with reversible myelin vacuolization MONDO:MONDO:0020853,MedGen:C4722446,OMIM:618113 3 3 1.0000 condition_record_support_limited 20 0 2 Encephalitis/encephalopathy,_mild,_with_reversible_myelin_vacuolization 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYORG myorg_related_disorder MYORG-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 MYORG-related_disorder 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO7A mondo_mondo_0016484_medgen_c0339534_orphanet_231178 Usher syndrome type 2 MONDO:MONDO:0016484,MedGen:C0339534,Orphanet:231178 3 3 1.0000 condition_record_support_limited 20 0 1 Usher_syndrome_type_2 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO7A mondo_mondo_0007972_medgen_c0025281_omim_156000 Meniere disease MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000 3 3 1.0000 condition_record_support_limited 20 0 2 Meniere_disease 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO6 monogenic_hearing_loss Monogenic hearing loss . 3 3 1.0000 condition_record_support_limited 20 0 2 Monogenic_hearing_loss 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO6 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 3 3 1.0000 condition_record_support_limited 20 0 2 Hearing_impairment 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO5B myo5b_related_disorder MYO5B-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 MYO5B-related_disorder 104 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO3A mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 3 3 1.0000 condition_record_support_limited 20 0 1 Nonsyndromic_genetic_hearing_loss 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO3A mondo_mondo_0958232_medgen_c5935579_omim_620722 Hearing loss, autosomal dominant 90 MONDO:MONDO:0958232,MedGen:C5935579,OMIM:620722 3 3 1.0000 condition_record_support_limited 20 0 2 Hearing_loss,_autosomal_dominant_90 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYMX mondo_mondo_0100292_medgen_c5677012_omim_619941 Carey-Fineman-Ziter syndrome 2 MONDO:MONDO:0100292,MedGen:C5677012,OMIM:619941 3 3 1.0000 condition_record_support_limited 20 0 0 Carey-Fineman-Ziter_syndrome_2 3 low_record_burden_interpretation_limited low_record_burden_gene MYMK mondo_mondo_0800437_medgen_c5676876_omim_254940 Carey-Fineman-Ziter syndrome 1 MONDO:MONDO:0800437,MedGen:C5676876,OMIM:254940 3 3 1.0000 condition_record_support_limited 20 0 1 Carey-Fineman-Ziter_syndrome_1 8 low_record_burden_interpretation_limited low_record_burden_gene MYL3 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 3 3 1.0000 condition_record_support_limited 20 0 3 Hypertrophic_cardiomyopathy 5 low_record_burden_interpretation_limited low_record_burden_gene MYL2 mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 Primary familial hypertrophic cardiomyopathy MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 3 3 1.0000 condition_record_support_limited 20 0 2 Primary_familial_hypertrophic_cardiomyopathy 17 low_record_burden_interpretation_limited low_record_burden_gene MYH7 human_phenotype_ontology_hp_0001723_mondo_mondo_0005201_mesh_d002313_medgen_c0007196_orphanet_217632 Restrictive cardiomyopathy Human_Phenotype_Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196,Orphanet:217632 3 3 1.0000 condition_record_support_limited 20 0 3 Restrictive_cardiomyopathy 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH11 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 3 3 1.0000 condition_record_support_limited 20 0 2 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYCN mycn_related_disorder MYCN-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 MYCN-related_disorder 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYC human_phenotype_ontology_hp_0030080_mondo_mondo_0007243_medgen_c0006413_omim_113970_orphanet_543 Burkitt lymphoma Human_Phenotype_Ontology:HP:0030080,MONDO:MONDO:0007243,MedGen:C0006413,OMIM:113970,Orphanet:543 3 3 1.0000 condition_record_support_limited 20 0 0 Burkitt_lymphoma 4 low_record_burden_interpretation_limited low_record_burden_gene MYBPC3 mybpc3_related_cardiomyopathies MYBPC3-related cardiomyopathies . 3 3 1.0000 condition_record_support_limited 20 0 3 MYBPC3-related_cardiomyopathies 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MXI1 human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Prostate cancer Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 3 3 1.0000 condition_record_support_limited 20 0 0 Prostate_cancer 5 low_record_burden_interpretation_limited low_record_burden_gene MUTYH mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 3 3 1.0000 condition_record_support_limited 20 0 2 Colorectal_cancer 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH human_phenotype_ontology_hp_0003003_human_phenotype_ontology_hp_0006718_mondo_mondo_0021063_medgen_c0007102 Colon cancer Human_Phenotype_Ontology:HP:0003003,Human_Phenotype_Ontology:HP:0006718,MONDO:MONDO:0021063,MedGen:C0007102 3 3 1.0000 condition_record_support_limited 20 0 3 Colon_cancer 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MTRR mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTM1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTFMT mondo_mondo_0032631_medgen_c4748826_omim_618248 Mitochondrial complex I deficiency, nuclear type 27 MONDO:MONDO:0032631,MedGen:C4748826,OMIM:618248 3 3 1.0000 condition_record_support_limited 20 0 3 Mitochondrial_complex_I_deficiency,_nuclear_type_27 32 compact_adjacent_exon_block_opportunity local_compact_architecture MSX2 mondo_mondo_0008198_medgen_c1868597_omim_168550_orphanet_251290 Parietal foramina with cleidocranial dysplasia MONDO:MONDO:0008198,MedGen:C1868597,OMIM:168550,Orphanet:251290 3 3 1.0000 condition_record_support_limited 20 0 2 Parietal_foramina_with_cleidocranial_dysplasia 14 low_record_burden_interpretation_limited low_record_burden_gene MSX2 human_phenotype_ontology_hp_0004423_medgen_c1868598 Cranium bifidum occultum Human_Phenotype_Ontology:HP:0004423,MedGen:C1868598 3 3 1.0000 condition_record_support_limited 20 0 2 Cranium_bifidum_occultum 14 low_record_burden_interpretation_limited low_record_burden_gene MSX1 msx1_related_disorder MSX1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 MSX1-related_disorder 29 compact_adjacent_exon_block_opportunity local_compact_architecture MSTO1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 17 low_record_burden_interpretation_limited low_record_burden_gene MSMO1 mondo_mondo_0014793_medgen_c5567510_omim_616834_orphanet_488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome MONDO:MONDO:0014793,MedGen:C5567510,OMIM:616834,Orphanet:488168 3 3 1.0000 condition_record_support_limited 20 0 1 Microcephaly-congenital_cataract-psoriasiform_dermatitis_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene MSH6 mondo_mondo_0016268_medgen_c5679804_orphanet_213726 Papillary carcinoma of the corpus uteri MONDO:MONDO:0016268,MedGen:C5679804,Orphanet:213726 3 3 1.0000 condition_record_support_limited 20 0 3 Papillary_carcinoma_of_the_corpus_uteri 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH5 mondo_mondo_0030972_medgen_c5677010_omim_619937 Spermatogenic failure 74 MONDO:MONDO:0030972,MedGen:C5677010,OMIM:619937 3 3 1.0000 condition_record_support_limited 20 0 3 Spermatogenic_failure_74 7 low_record_burden_interpretation_limited low_record_burden_gene MSH5 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 3 3 1.0000 condition_record_support_limited 20 0 3 Non-obstructive_azoospermia 7 low_record_burden_interpretation_limited low_record_burden_gene MSH4 mondo_mondo_0030975_medgen_c5677011_omim_619938 Premature ovarian failure 20 MONDO:MONDO:0030975,MedGen:C5677011,OMIM:619938 3 3 1.0000 condition_record_support_limited 20 0 2 Premature_ovarian_failure_20 15 low_record_burden_interpretation_limited low_record_burden_gene MSH2 mondo_mondo_0006003_medgen_cn277893 Uterine corpus cancer MONDO:MONDO:0006003,MedGen:CN277893 3 3 1.0000 condition_record_support_limited 20 0 2 Uterine_corpus_cancer 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH2 human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Ovarian neoplasm Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 3 3 1.0000 condition_record_support_limited 20 0 3 Ovarian_neoplasm 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH2 breast_and_or_ovarian_cancer Breast and/or ovarian cancer MedGen:CN221562 3 3 1.0000 condition_record_support_limited 20 0 3 Breast_and/or_ovarian_cancer 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MRTFB mrtfb_related_disorder MRTFB-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 MRTFB-related_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene MRPS2 mondo_mondo_0054781_medgen_c4693722_omim_617950 Combined oxidative phosphorylation deficiency 36 MONDO:MONDO:0054781,MedGen:C4693722,OMIM:617950 3 3 1.0000 condition_record_support_limited 20 0 0 Combined_oxidative_phosphorylation_deficiency_36 3 low_record_burden_interpretation_limited low_record_burden_gene MRPL44 mondo_mondo_0014162_medgen_c3809339_omim_615395_orphanet_352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency MONDO:MONDO:0014162,MedGen:C3809339,OMIM:615395,Orphanet:352563 3 3 1.0000 condition_record_support_limited 20 0 1 Infantile_hypertrophic_cardiomyopathy_due_to_MRPL44_deficiency 5 low_record_burden_interpretation_limited low_record_burden_gene MRPL39 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 3 3 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_disease 4 low_record_burden_interpretation_limited low_record_burden_gene MRPL39 mondo_mondo_0957992_medgen_c5882730_omim_620646 Combined oxidative phosphorylation deficiency 59 MONDO:MONDO:0957992,MedGen:C5882730,OMIM:620646 3 3 1.0000 condition_record_support_limited 20 0 3 Combined_oxidative_phosphorylation_deficiency_59 4 low_record_burden_interpretation_limited low_record_burden_gene MRPL3 mondo_mondo_0013811_medgen_c4706315_omim_614582_orphanet_319509 Combined oxidative phosphorylation defect type 9 MONDO:MONDO:0013811,MedGen:C4706315,OMIM:614582,Orphanet:319509 3 3 1.0000 condition_record_support_limited 20 0 1 Combined_oxidative_phosphorylation_defect_type_9 5 low_record_burden_interpretation_limited low_record_burden_gene MRAS mondo_mondo_0032786_medgen_c5193130_omim_618499 Noonan syndrome 11 MONDO:MONDO:0032786,MedGen:C5193130,OMIM:618499 3 3 1.0000 condition_record_support_limited 20 0 3 Noonan_syndrome_11 5 low_record_burden_interpretation_limited low_record_burden_gene MRAP mondo_mondo_0024536_medgen_c4049650_omim_202200_orphanet_361 Glucocorticoid deficiency 1 MONDO:MONDO:0024536,MedGen:C4049650,OMIM:202200,Orphanet:361 3 3 1.0000 condition_record_support_limited 20 0 2 Glucocorticoid_deficiency_1 9 low_record_burden_interpretation_limited low_record_burden_gene MPIG6B condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene MPI condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 147 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPDZ mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 131 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MORC2 morc2_related_disorder MORC2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 MORC2-related_disorder 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MNS1 mns1_related_disorder MNS1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 MNS1-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene MN1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 29 compact_adjacent_exon_block_opportunity local_compact_architecture MMUT medgen_c1855116 METHYLMALONIC ACIDURIA, mut(-) TYPE MedGen:C1855116 3 3 1.0000 condition_record_support_limited 20 0 2 METHYLMALONIC_ACIDURIA,_mut(-)_TYPE 408 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMUT likely_inborn_error_of_metabolism Likely inborn error of metabolism . 3 3 1.0000 condition_record_support_limited 20 0 3 Likely_inborn_error_of_metabolism 408 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMUT human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 3 3 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_metabolism/homeostasis 408 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMP9 mondo_mondo_0013113_medgen_c2751322_omim_613073_orphanet_1040 Metaphyseal anadysplasia 2 MONDO:MONDO:0013113,MedGen:C2751322,OMIM:613073,Orphanet:1040 3 3 1.0000 condition_record_support_limited 20 0 0 Metaphyseal_anadysplasia_2 3 low_record_burden_interpretation_limited low_record_burden_gene MMP21 mmp21_related_disorder MMP21-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 MMP21-related_disorder 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MME mme_related_disorder MME-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 MME-related_disorder 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMADHC mondo_mondo_0700298_medgen_cn378546_omim_620953 Isolated methylmalonic aciduria cblD type MONDO:MONDO:0700298,MedGen:CN378546,OMIM:620953 3 3 1.0000 condition_record_support_limited 20 0 3 Isolated_methylmalonic_aciduria_cblD_type 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMADHC mondo_mondo_0700297_medgen_c1848553_omim_620952 Homocystinuria-megaloblastic anemia cblD type MONDO:MONDO:0700297,MedGen:C1848553,OMIM:620952 3 3 1.0000 condition_record_support_limited 20 0 2 Homocystinuria-megaloblastic_anemia_cblD_type 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMACHC mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 178 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMAB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 108 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITF mondo_mondo_0018094_medgen_c3266898_omim_ps193500_orphanet_3440 Waardenburg syndrome MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500,Orphanet:3440 3 3 1.0000 condition_record_support_limited 20 0 2 Waardenburg_syndrome 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MIP mip_related_disorder MIP-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 MIP-related_disorder 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MIP human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 3 3 1.0000 condition_record_support_limited 20 0 1 Developmental_cataract 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MINAR2 mondo_mondo_0859374_medgen_c5774309_omim_620238 Hearing loss, autosomal recessive 120 MONDO:MONDO:0859374,MedGen:C5774309,OMIM:620238 3 3 1.0000 condition_record_support_limited 20 0 0 Hearing_loss,_autosomal_recessive_120 3 low_record_burden_interpretation_limited low_record_burden_gene MGAT2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene MGA mondo_mondo_0976129_medgen_c5975591_omim_621065 Premature ovarian failure 26 MONDO:MONDO:0976129,MedGen:C5975591,OMIM:621065 3 3 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure_26 4 low_record_burden_interpretation_limited low_record_burden_gene MFRP mondo_mondo_0011579_medgen_c1854065_omim_605670_orphanet_67042 Late-onset retinal degeneration MONDO:MONDO:0011579,MedGen:C1854065,OMIM:605670,Orphanet:67042 3 3 1.0000 condition_record_support_limited 20 0 2 Late-onset_retinal_degeneration 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFF condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene MEN1 familial_hyperparathyroidism_or_hypocalciuric_hypercalcaemia Familial hyperparathyroidism or Hypocalciuric hypercalcaemia . 3 3 1.0000 condition_record_support_limited 20 0 2 Familial_hyperparathyroidism_or_Hypocalciuric_hypercalcaemia 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEIS2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEIOB condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene MEGF8 mondo_mondo_0019012_medgen_c1275078_omim_ps201000_orphanet_65759 Carpenter syndrome MONDO:MONDO:0019012,MedGen:C1275078,OMIM:PS201000,Orphanet:65759 3 3 1.0000 condition_record_support_limited 20 0 0 Carpenter_syndrome 43 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED27 mondo_mondo_0859137_medgen_c5543306_omim_619286 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia MONDO:MONDO:0859137,MedGen:C5543306,OMIM:619286 3 3 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_spasticity,_cataracts,_and_cerebellar_hypoplasia 3 low_record_burden_interpretation_limited low_record_burden_gene MED25 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene MED25 mondo_mondo_0014643_medgen_c4225323_omim_616449_orphanet_464738 Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO:MONDO:0014643,MedGen:C4225323,OMIM:616449,Orphanet:464738 3 3 1.0000 condition_record_support_limited 20 0 1 Congenital_cataract-microcephaly-nevus_flammeus_simplex-severe_intellectual_disability_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene MED23 arg1_related_disorder ARG1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 ARG1-related_disorder 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED13L medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 3 3 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_intellectual_disability 284 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED13L mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 284 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED13L med13l_related_neurodevelopmental_disorder MED13L-related neurodevelopmental disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 MED13L-related_neurodevelopmental_disorder 284 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED13 med13_related_disorder MED13-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 MED13-related_disorder 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED13 mondo_mondo_0008250_medgen_c0271567_omim_173100_orphanet_231679_orphanet_631 Autosomal dominant isolated somatotropin deficiency MONDO:MONDO:0008250,MedGen:C0271567,OMIM:173100,Orphanet:231679,Orphanet:631 3 3 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_isolated_somatotropin_deficiency 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12L mondo_mondo_0012354_medgen_c1853278_omim_609821_orphanet_36355 Platelet-type bleeding disorder 8 MONDO:MONDO:0012354,MedGen:C1853278,OMIM:609821,Orphanet:36355 3 3 1.0000 condition_record_support_limited 20 0 1 Platelet-type_bleeding_disorder_8 35 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12 nonspecific_intellectual_disability Nonspecific Intellectual Disability . 3 3 1.0000 condition_record_support_limited 20 0 2 Nonspecific_Intellectual_Disability 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 3 3 1.0000 condition_record_support_limited 20 0 3 Abnormality_of_the_nervous_system 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECOM mondo_mondo_0007485_medgen_c4551974_omim_127550_orphanet_1775 Dyskeratosis congenita, autosomal dominant 1 MONDO:MONDO:0007485,MedGen:C4551974,OMIM:127550,Orphanet:1775 3 3 1.0000 condition_record_support_limited 20 0 0 Dyskeratosis_congenita,_autosomal_dominant_1 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MDH2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MDC1 mondo_mondo_0850098_medgen_cn372097 Oligoasthenoteratozoospermia MONDO:MONDO:0850098,MedGen:CN372097 3 3 1.0000 condition_record_support_limited 20 0 0 Oligoasthenoteratozoospermia 3 low_record_burden_interpretation_limited low_record_burden_gene MCTS1 mondo_mondo_0958030_medgen_c5882665_omim_301115 Immunodeficiency 118 MONDO:MONDO:0958030,MedGen:C5882665,OMIM:301115 3 3 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_118 3 low_record_burden_interpretation_limited low_record_burden_gene MCCC2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MC4R obesity_autosomal_dominant Obesity, autosomal dominant MedGen:CN233047 3 3 1.0000 condition_record_support_limited 20 0 2 Obesity,_autosomal_dominant 59 single_exon_hotspot_opportunity local_compact_architecture MBOAT7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MBD5 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 119 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MBD4 mondo_mondo_0011695_medgen_c1847724_omim_606660_orphanet_39044 Melanoma, uveal, susceptibility to, 1 MONDO:MONDO:0011695,MedGen:C1847724,OMIM:606660,Orphanet:39044 3 3 1.0000 condition_record_support_limited 20 0 3 Melanoma,_uveal,_susceptibility_to,_1 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MATN3 mondo_mondo_0012108_medgen_c1837481_omim_608728_orphanet_156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type MONDO:MONDO:0012108,MedGen:C1837481,OMIM:608728,Orphanet:156728 3 3 1.0000 condition_record_support_limited 20 0 2 Spondyloepimetaphyseal_dysplasia,_matrilin-3_type 12 low_record_burden_interpretation_limited low_record_burden_gene MASP2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene MARVELD2 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 3 3 1.0000 condition_record_support_limited 20 0 3 Rare_genetic_deafness 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MARS2 mondo_mondo_0012664_medgen_c1969645_omim_611390_orphanet_314603 Spastic ataxia 3 MONDO:MONDO:0012664,MedGen:C1969645,OMIM:611390,Orphanet:314603 3 3 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia_3 6 low_record_burden_interpretation_limited low_record_burden_gene MARS1 mondo_mondo_0014206_medgen_c4225400_omim_615486_orphanet_440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency MONDO:MONDO:0014206,MedGen:C4225400,OMIM:615486,Orphanet:440427 3 3 1.0000 condition_record_support_limited 20 0 1 Severe_early-onset_pulmonary_alveolar_proteinosis_due_to_MARS_deficiency 7 low_record_burden_interpretation_limited low_record_burden_gene MAPT mapt_related_disorder MAPT-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 MAPT-related_disorder 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAPK7 mondo_mondo_0008419_medgen_c2700406_omim_181800 Scoliosis, isolated, susceptibility to, 1 MONDO:MONDO:0008419,MedGen:C2700406,OMIM:181800 3 3 1.0000 condition_record_support_limited 20 0 0 Scoliosis,_isolated,_susceptibility_to,_1 3 low_record_burden_interpretation_limited low_record_burden_gene MAPK1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 3 3 1.0000 condition_record_support_limited 20 0 3 Microcephaly 13 low_record_burden_interpretation_limited low_record_burden_gene MAP3K20 mondo_mondo_0014816_medgen_c5567487_omim_616890_orphanet_488232 Split-foot malformation-mesoaxial polydactyly syndrome MONDO:MONDO:0014816,MedGen:C5567487,OMIM:616890,Orphanet:488232 3 3 1.0000 condition_record_support_limited 20 0 2 Split-foot_malformation-mesoaxial_polydactyly_syndrome 13 low_record_burden_interpretation_limited low_record_burden_gene MAP3K20 mondo_mondo_0054695_medgen_c4540345_omim_617760 Myopathy, centronuclear, 6, with fiber-type disproportion MONDO:MONDO:0054695,MedGen:C4540345,OMIM:617760 3 3 1.0000 condition_record_support_limited 20 0 3 Myopathy,_centronuclear,_6,_with_fiber-type_disproportion 13 low_record_burden_interpretation_limited low_record_burden_gene MAP2K1 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 Noonan syndrome 1 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 3 3 1.0000 condition_record_support_limited 20 0 3 Noonan_syndrome_1 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP2K1 map2k1_related_disorder MAP2K1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 MAP2K1-related_disorder 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP1B white_matter_deficit White matter deficit . 3 3 1.0000 condition_record_support_limited 20 0 3 White_matter_deficit 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MAP1B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MAP1B human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Hypoplasia of the corpus callosum Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 3 3 1.0000 condition_record_support_limited 20 0 3 Hypoplasia_of_the_corpus_callosum 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MAP1B mondo_mondo_0030723_medgen_c5676951_omim_619808 Hearing loss, autosomal dominant 83 MONDO:MONDO:0030723,MedGen:C5676951,OMIM:619808 3 3 1.0000 condition_record_support_limited 20 0 2 Hearing_loss,_autosomal_dominant_83 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MAP1B human_phenotype_ontology_hp_0002128_human_phenotype_ontology_hp_0002129_human_phenotype_ontology_hp_0002302_human_phenotype_ontology_hp_0002337_human_phenotype_ontology_hp_0002441_human_phenotype_ontology_hp_0006972_human_phenotype_ontology_hp_0006998_human_phenotype_ontology_hp_0007211_human_phenotype_ontology_hp_0100543_medgen_c0338656 Cognitive impairment Human_Phenotype_Ontology:HP:0002128,Human_Phenotype_Ontology:HP:0002129,Human_Phenotype_Ontology:HP:0002302,Human_Phenotype_Ontology:HP:0002337,Human_Phenotype_Ontology:HP:0002441,Human_Phenotype_Ontology:HP:0006972,Human_Phenotype_Ontology:HP:0006998,Human_Phenotype_Ontology:HP:0007211,Human_Phenotype_Ontology:HP:0100543,MedGen:C0338656 3 3 1.0000 condition_record_support_limited 20 0 3 Cognitive_impairment 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MAOA condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene MANF mondo_mondo_0957997_medgen_c5882732_omim_620651 Diabetes, deafness, developmental delay, and short stature syndrome MONDO:MONDO:0957997,MedGen:C5882732,OMIM:620651 3 3 1.0000 condition_record_support_limited 20 0 1 Diabetes,_deafness,_developmental_delay,_and_short_stature_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene MAN2B2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene MAN1B1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAMLD1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene MALT1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAFB mondo_mondo_0024265_medgen_c0994516_omim_126800_orphanet_233 Duane syndrome type 1 MONDO:MONDO:0024265,MedGen:C0994516,OMIM:126800,Orphanet:233 3 3 1.0000 condition_record_support_limited 20 0 3 Duane_syndrome_type_1 24 single_exon_hotspot_opportunity local_compact_architecture MAFB mondo_mondo_0011444_medgen_c0751083_omim_604356_orphanet_233 Duane retraction syndrome 2 MONDO:MONDO:0011444,MedGen:C0751083,OMIM:604356,Orphanet:233 3 3 1.0000 condition_record_support_limited 20 0 3 Duane_retraction_syndrome_2 24 single_exon_hotspot_opportunity local_compact_architecture MAF mondo_mondo_0010632_medgen_c3463992_omim_308350 Developmental and epileptic encephalopathy, 1 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 3 3 1.0000 condition_record_support_limited 20 0 3 Developmental_and_epileptic_encephalopathy,_1 40 compact_adjacent_exon_block_opportunity local_compact_architecture MADD mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAD1L1 mondo_mondo_0859346_medgen_c5774284_omim_620189 Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition MONDO:MONDO:0859346,MedGen:C5774284,OMIM:620189 3 3 1.0000 condition_record_support_limited 20 0 0 Mosaic_variegated_aneuploidy_syndrome_7_with_inflammation_and_tumor_predisposition 6 low_record_burden_interpretation_limited low_record_burden_gene LZTR1 pigmentary_skin_disorders Pigmentary skin disorders . 3 3 1.0000 condition_record_support_limited 20 0 1 Pigmentary_skin_disorders 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LZTR1 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 3 3 1.0000 condition_record_support_limited 20 0 3 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LYN lyn_kinase_associated_vasculopathy_and_liver_fibrosis_syndrome LYN kinase associated vasculopathy and liver fibrosis syndrome . 3 3 1.0000 condition_record_support_limited 20 0 3 LYN_kinase_associated_vasculopathy_and_liver_fibrosis_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene LTBP4 ltbp4_related_disorder LTBP4-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 LTBP4-related_disorder 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LTBP2 mondo_mondo_0013899_medgen_c3553785_omim_614819_orphanet_3449 Weill-Marchesani syndrome 3 MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819,Orphanet:3449 3 3 1.0000 condition_record_support_limited 20 0 3 Weill-Marchesani_syndrome_3 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LTBP2 mondo_mondo_0009277_medgen_c1856439_omim_231300_orphanet_98976_orphanet_98977 Glaucoma 3A MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977 3 3 1.0000 condition_record_support_limited 20 0 2 Glaucoma_3A 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRRC56 human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 3 3 1.0000 condition_record_support_limited 20 0 3 Non-immune_hydrops_fetalis 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC32 mondo_mondo_0033641_medgen_c5436739_omim_619074 Cleft palate, proliferative retinopathy, and developmental delay MONDO:MONDO:0033641,MedGen:C5436739,OMIM:619074 3 3 1.0000 condition_record_support_limited 20 0 1 Cleft_palate,_proliferative_retinopathy,_and_developmental_delay 3 low_record_burden_interpretation_limited low_record_burden_gene LRP6 human_phenotype_ontology_hp_0000677_human_phenotype_ontology_hp_0000702_medgen_c4082304 Oligodontia Human_Phenotype_Ontology:HP:0000677,Human_Phenotype_Ontology:HP:0000702,MedGen:C4082304 3 3 1.0000 condition_record_support_limited 20 0 2 Oligodontia 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP5 human_phenotype_ontology_hp_0000939_human_phenotype_ontology_hp_0002774_mondo_mondo_0005298_medgen_c0029456_omim_166710 Osteoporosis Human_Phenotype_Ontology:HP:0000939,Human_Phenotype_Ontology:HP:0002774,MONDO:MONDO:0005298,MedGen:C0029456,OMIM:166710 3 3 1.0000 condition_record_support_limited 20 0 2 Osteoporosis 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP5 medgen_c4016838 Exudative vitreoretinopathy 4, autosomal dominant MedGen:C4016838 3 3 1.0000 condition_record_support_limited 20 0 3 Exudative_vitreoretinopathy_4,_autosomal_dominant 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP2 lrp2_related_disorder LRP2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 LRP2-related_disorder 205 large_gene_or_donor_burden_stress_case donor_burden_stress LRMDA mondo_mondo_0014070_medgen_c3808786_omim_615179_orphanet_352745 Oculocutaneous albinism type 7 MONDO:MONDO:0014070,MedGen:C3808786,OMIM:615179,Orphanet:352745 3 3 1.0000 condition_record_support_limited 20 0 2 Oculocutaneous_albinism_type_7 11 low_record_burden_interpretation_limited low_record_burden_gene LRIT3 mondo_mondo_0014026_medgen_c3554399_omim_615058_orphanet_215 Congenital stationary night blindness 1F MONDO:MONDO:0014026,MedGen:C3554399,OMIM:615058,Orphanet:215 3 3 1.0000 condition_record_support_limited 20 0 0 Congenital_stationary_night_blindness_1F 5 low_record_burden_interpretation_limited low_record_burden_gene LRBA lrba_deficiency LRBA deficiency . 3 3 1.0000 condition_record_support_limited 20 0 1 LRBA_deficiency 186 large_gene_or_donor_burden_stress_case donor_burden_stress LRAT human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LPAR6 mondo_mondo_0800312_medgen_c1848435 Wooly hair, autosomal recessive 1, with or without hypotrichosis MONDO:MONDO:0800312,MedGen:C1848435 3 3 1.0000 condition_record_support_limited 20 0 2 Wooly_hair,_autosomal_recessive_1,_with_or_without_hypotrichosis 18 low_record_burden_interpretation_limited low_record_burden_gene LOXL3 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene LOXL3 mondo_mondo_0030697_medgen_c5676935_omim_619781 Myopia 28, autosomal recessive MONDO:MONDO:0030697,MedGen:C5676935,OMIM:619781 3 3 1.0000 condition_record_support_limited 20 0 0 Myopia_28,_autosomal_recessive 8 low_record_burden_interpretation_limited low_record_burden_gene LOXHD1 medgen_c0011053 Deafness MedGen:C0011053 3 3 1.0000 condition_record_support_limited 20 0 2 Deafness 443 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LOX mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 3 3 1.0000 condition_record_support_limited 20 0 3 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 54 compact_adjacent_exon_block_opportunity local_compact_architecture LORICRIN condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene LONP1 lonp1_related_disorder LONP1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 LONP1-related_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMOD1 mondo_mondo_0030294_medgen_c5543513_omim_619362 Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 MONDO:MONDO:0030294,MedGen:C5543513,OMIM:619362 3 3 1.0000 condition_record_support_limited 20 0 1 Megacystis-microcolon-intestinal_hypoperistalsis_syndrome_3 3 low_record_burden_interpretation_limited low_record_burden_gene LMNB2 mondo_mondo_0030929_medgen_c5543051_omim_619180 Microcephaly 27, primary, autosomal dominant MONDO:MONDO:0030929,MedGen:C5543051,OMIM:619180 3 3 1.0000 condition_record_support_limited 20 0 1 Microcephaly_27,_primary,_autosomal_dominant 4 low_record_burden_interpretation_limited low_record_burden_gene LMNB1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 9 low_record_burden_interpretation_limited low_record_burden_gene LMNA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA medgen_c2750285 Hutchinson-Gilford progeria syndrome, childhood-onset MedGen:C2750285 3 3 1.0000 condition_record_support_limited 20 0 3 Hutchinson-Gilford_progeria_syndrome,_childhood-onset 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA medgen_c4016241 Hutchinson-Gilford progeria syndrome, atypical MedGen:C4016241 3 3 1.0000 condition_record_support_limited 20 0 2 Hutchinson-Gilford_progeria_syndrome,_atypical 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA human_phenotype_ontology_hp_0003741_human_phenotype_ontology_hp_0003793_mondo_mondo_0019950_medgen_c0699743_orphanet_97242 Congenital muscular dystrophy Human_Phenotype_Ontology:HP:0003741,Human_Phenotype_Ontology:HP:0003793,MONDO:MONDO:0019950,MedGen:C0699743,Orphanet:97242 3 3 1.0000 condition_record_support_limited 20 0 2 Congenital_muscular_dystrophy 536 compact_adjacent_exon_block_opportunity local_compact_architecture LITAF mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 3 3 1.0000 condition_record_support_limited 20 0 3 Charcot-Marie-Tooth_disease 8 low_record_burden_interpretation_limited low_record_burden_gene LIPE mondo_mondo_0014431_medgen_c4014869_omim_615980_orphanet_435660 LIPE-related familial partial lipodystrophy MONDO:MONDO:0014431,MedGen:C4014869,OMIM:615980,Orphanet:435660 3 3 1.0000 condition_record_support_limited 20 0 1 LIPE-related_familial_partial_lipodystrophy 5 low_record_burden_interpretation_limited low_record_burden_gene LINS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LIMS2 mondo_mondo_0014788_medgen_c4225192_omim_616827 Autosomal recessive limb-girdle muscular dystrophy type 2W MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827 3 3 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2W 3 low_record_burden_interpretation_limited low_record_burden_gene LIM2 mondo_mondo_0014111_medgen_c3809004_omim_615277_orphanet_91492 Cataract 19 multiple types MONDO:MONDO:0014111,MedGen:C3809004,OMIM:615277,Orphanet:91492 3 3 1.0000 condition_record_support_limited 20 0 1 Cataract_19_multiple_types 3 low_record_burden_interpretation_limited low_record_burden_gene LIG4 prenatal_lig4_syndrome_with_aqueductal_stenosis prenatal LIG4 syndrome with aqueductal stenosis . 3 3 1.0000 condition_record_support_limited 20 0 3 prenatal_LIG4_syndrome_with_aqueductal_stenosis 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LIG1 mondo_mondo_0030693_medgen_c5676930_omim_619774 Immunodeficiency 96 MONDO:MONDO:0030693,MedGen:C5676930,OMIM:619774 3 3 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency_96 3 low_record_burden_interpretation_limited low_record_burden_gene LHX3 mondo_mondo_0013099_medgen_c4273747_omim_ps613038_orphanet_95494 Combined pituitary hormone deficiencies, genetic form MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038,Orphanet:95494 3 3 1.0000 condition_record_support_limited 20 0 2 Combined_pituitary_hormone_deficiencies,_genetic_form 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LHFPL5 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 3 3 1.0000 condition_record_support_limited 20 0 2 Hearing_loss,_autosomal_recessive 23 compact_adjacent_exon_block_opportunity local_compact_architecture LHCGR medgen_c2673497 Leydig cell hypoplasia, type II MedGen:C2673497 3 3 1.0000 condition_record_support_limited 20 0 0 Leydig_cell_hypoplasia,_type_II 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LGI1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LEP condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene LEP medgen_c4016279 Leptin dysfunction MedGen:C4016279 3 3 1.0000 condition_record_support_limited 20 0 2 Leptin_dysfunction 8 low_record_burden_interpretation_limited low_record_burden_gene LENG1 mondo_mondo_0032864_medgen_c5231456_omim_618672 Intellectual developmental disorder with speech delay, autism, and dysmorphic facies MONDO:MONDO:0032864,MedGen:C5231456,OMIM:618672 3 3 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder_with_speech_delay,_autism,_and_dysmorphic_facies 3 low_record_burden_interpretation_limited low_record_burden_gene LEMD3 lemd3_related_disorder LEMD3-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 LEMD3-related_disorder 70 compact_adjacent_exon_block_opportunity local_compact_architecture LDLRAD2 mondo_mondo_0100435_medgen_c4551479_omim_255800 Schwartz-Jampel syndrome type 1 MONDO:MONDO:0100435,MedGen:C4551479,OMIM:255800 3 3 1.0000 condition_record_support_limited 20 0 0 Schwartz-Jampel_syndrome_type_1 5 low_record_burden_interpretation_limited low_record_burden_gene LDB3 mondo_mondo_0979236_medgen_c6012739_omim_621237 Cardiomyopathy, dilated, 2l MONDO:MONDO:0979236,MedGen:C6012739,OMIM:621237 3 3 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy,_dilated,_2l 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LCT lct_related_disorder LCT-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 LCT-related_disorder 49 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LCA5 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LBR mondo_mondo_0018663_medgen_c4747922_omim_618019_orphanet_448267 Regressive spondylometaphyseal dysplasia MONDO:MONDO:0018663,MedGen:C4747922,OMIM:618019,Orphanet:448267 3 3 1.0000 condition_record_support_limited 20 0 3 Regressive_spondylometaphyseal_dysplasia 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LBR lbr_related_disorder LBR-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 LBR-related_disorder 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAT mondo_mondo_0044721_medgen_c4479588_omim_617514_orphanet_504523 Severe combined immunodeficiency due to LAT deficiency MONDO:MONDO:0044721,MedGen:C4479588,OMIM:617514,Orphanet:504523 3 3 1.0000 condition_record_support_limited 20 0 0 Severe_combined_immunodeficiency_due_to_LAT_deficiency 9 low_record_burden_interpretation_limited low_record_burden_gene LAS1L condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene LARP7 larp7_related_disorder LARP7-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 LARP7-related_disorder 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMP2 efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 3 3 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMP2 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 3 3 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMC2 lamc2_related_disorder LAMC2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 LAMC2-related_disorder 223 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMB1 mondo_mondo_0980752_medgen_cn380416_omim_621424 Leukoencephalopathy without lacunae, adult-onset MONDO:MONDO:0980752,MedGen:CN380416,OMIM:621424 3 3 1.0000 condition_record_support_limited 20 0 0 Leukoencephalopathy_without_lacunae,_adult-onset 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LAMA3 mondo_mondo_0009180_medgen_c0268374_omim_226650_orphanet_251393_orphanet_79402_orphanet_79405_orphanet_89840 Junctional epidermolysis bullosa, non-Herlitz type MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840 3 3 1.0000 condition_record_support_limited 20 0 1 Junctional_epidermolysis_bullosa,_non-Herlitz_type 266 large_gene_or_donor_burden_stress_case donor_burden_stress LAMA1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 125 large_gene_or_donor_burden_stress_case donor_burden_stress LAGE3 mondo_mondo_0033006_medgen_c4538784_omim_301006 Galloway-Mowat syndrome 2, X-linked MONDO:MONDO:0033006,MedGen:C4538784,OMIM:301006 3 3 1.0000 condition_record_support_limited 20 0 0 Galloway-Mowat_syndrome_2,_X-linked 3 low_record_burden_interpretation_limited low_record_burden_gene KYNU mondo_mondo_0014507_medgen_c1844887_omim_616145_orphanet_1388 Catel-Manzke syndrome MONDO:MONDO:0014507,MedGen:C1844887,OMIM:616145,Orphanet:1388 3 3 1.0000 condition_record_support_limited 20 0 2 Catel-Manzke_syndrome 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KSR2 ksr2_related_disorder KSR2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 KSR2-related_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene KRTCAP3 ift172_related_disorder IFT172-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 IFT172-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene KRT74 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene KRT6C condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene KRT5 mondo_mondo_0030535_medgen_c5562014_omim_619599 Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive MONDO:MONDO:0030535,MedGen:C5562014,OMIM:619599 3 3 1.0000 condition_record_support_limited 20 0 2 Epidermolysis_bullosa_simplex_2d,_generalized,_intermediate_or_severe,_autosomal_recessive 96 compact_adjacent_exon_block_opportunity local_compact_architecture KRT4 mondo_mondo_0008676_medgen_c4011926_omim_193900 White sponge nevus 1 MONDO:MONDO:0008676,MedGen:C4011926,OMIM:193900 3 3 1.0000 condition_record_support_limited 20 0 0 White_sponge_nevus_1 3 low_record_burden_interpretation_limited low_record_burden_gene KRT3 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene KRT14 krt14_related_disorder KRT14-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 KRT14-related_disorder 76 compact_adjacent_exon_block_opportunity local_compact_architecture KRT10 krt10_related_disorder KRT10-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 KRT10-related_disorder 41 compact_adjacent_exon_block_opportunity local_compact_architecture KRT10 human_phenotype_ontology_hp_0007475_mondo_mondo_0007239_medgen_c0079153_omim_ps113800_orphanet_312 Epidermolytic ichthyosis Human_Phenotype_Ontology:HP:0007475,MONDO:MONDO:0007239,MedGen:C0079153,OMIM:PS113800,Orphanet:312 3 3 1.0000 condition_record_support_limited 20 0 2 Epidermolytic_ichthyosis 41 compact_adjacent_exon_block_opportunity local_compact_architecture KRT10 mondo_mondo_0700249_medgen_c5781874_omim_113800 Epidermolytic hyperkeratosis 1 MONDO:MONDO:0700249,MedGen:C5781874,OMIM:113800 3 3 1.0000 condition_record_support_limited 20 0 2 Epidermolytic_hyperkeratosis_1 41 compact_adjacent_exon_block_opportunity local_compact_architecture KRT10 mondo_mondo_0011870_medgen_c1843463_omim_ps607602_orphanet_281139 Annular epidermolytic ichthyosis MONDO:MONDO:0011870,MedGen:C1843463,OMIM:PS607602,Orphanet:281139 3 3 1.0000 condition_record_support_limited 20 0 2 Annular_epidermolytic_ichthyosis 41 compact_adjacent_exon_block_opportunity local_compact_architecture KRT1 mondo_mondo_0859574_medgen_c5774264_omim_620148 Ichthyosis, annular epidermolytic, 2 MONDO:MONDO:0859574,MedGen:C5774264,OMIM:620148 3 3 1.0000 condition_record_support_limited 20 0 3 Ichthyosis,_annular_epidermolytic,_2 48 compact_adjacent_exon_block_opportunity local_compact_architecture KRAS mondo_mondo_0010854_medgen_c1838329_omim_600268_orphanet_3339 Toriello-Lacassie-Droste syndrome MONDO:MONDO:0010854,MedGen:C1838329,OMIM:600268,Orphanet:3339 3 3 1.0000 condition_record_support_limited 20 0 3 Toriello-Lacassie-Droste_syndrome 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS oculoectodermal_syndrome_somatic OCULOECTODERMAL SYNDROME, SOMATIC . 3 3 1.0000 condition_record_support_limited 20 0 3 OCULOECTODERMAL_SYNDROME,_SOMATIC 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 Noonan syndrome 1 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 3 3 1.0000 condition_record_support_limited 20 0 3 Noonan_syndrome_1 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS human_phenotype_ontology_hp_0010815_medgen_c3854181 Nevus sebaceous Human_Phenotype_Ontology:HP:0010815,MedGen:C3854181 3 3 1.0000 condition_record_support_limited 20 0 3 Nevus_sebaceous 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 3 3 1.0000 condition_record_support_limited 20 0 3 Multiple_myeloma 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 Carcinoma of pancreas MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 3 3 1.0000 condition_record_support_limited 20 0 3 Carcinoma_of_pancreas 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KMT2E mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 136 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2E kmt2e_related_disorder KMT2E-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 KMT2E-related_disorder 136 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2D human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2B human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 3 3 1.0000 condition_record_support_limited 20 0 1 Dystonic_disorder 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KLHL7 human_phenotype_ontology_hp_0003049_medgen_c0231678 Ulnar deviation of the wrist Human_Phenotype_Ontology:HP:0003049,MedGen:C0231678 3 3 1.0000 condition_record_support_limited 20 0 1 Ulnar_deviation_of_the_wrist 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KLHL7 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KLHL7 mondo_mondo_0010091_medgen_c1848947_omim_272430_orphanet_1545_orphanet_157820 Cold-induced sweating syndrome 1 MONDO:MONDO:0010091,MedGen:C1848947,OMIM:272430,Orphanet:1545,Orphanet:157820 3 3 1.0000 condition_record_support_limited 20 0 3 Cold-induced_sweating_syndrome_1 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIZ human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 1.0000 condition_record_support_limited 20 0 3 Retinitis_pigmentosa 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KITLG mondo_mondo_0030983_medgen_c5677013_omim_619947 Waardenburg syndrome, IIa 2F MONDO:MONDO:0030983,MedGen:C5677013,OMIM:619947 3 3 1.0000 condition_record_support_limited 20 0 0 Waardenburg_syndrome,_IIa_2F 11 low_record_burden_interpretation_limited low_record_burden_gene KIT medgen_c2674636 Gastrointestinal stromal tumor, familial MedGen:C2674636 3 3 1.0000 condition_record_support_limited 20 0 2 Gastrointestinal_stromal_tumor,_familial 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIT human_phenotype_ontology_hp_0200151_mondo_mondo_0019023_medgen_c1136033_omim_154800_orphanet_66646 Cutaneous mastocytosis Human_Phenotype_Ontology:HP:0200151,MONDO:MONDO:0019023,MedGen:C1136033,OMIM:154800,Orphanet:66646 3 3 1.0000 condition_record_support_limited 20 0 1 Cutaneous_mastocytosis 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF5A spastic_paraglegia_10 Spastic Paraglegia 10 . 3 3 1.0000 condition_record_support_limited 20 0 0 Spastic_Paraglegia_10 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF23 mondo_mondo_0007109_medgen_c5676874_omim_105600_orphanet_98870 Congenital dyserythropoietic anemia, type III MONDO:MONDO:0007109,MedGen:C5676874,OMIM:105600,Orphanet:98870 3 3 1.0000 condition_record_support_limited 20 0 1 Congenital_dyserythropoietic_anemia,_type_III 4 low_record_burden_interpretation_limited low_record_burden_gene KIF21A kif21a_related_disorder KIF21A-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 KIF21A-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene KIF21A mondo_mondo_0800209_medgen_c2751105 Fibrosis of extraocular muscles, congenital, 3b MONDO:MONDO:0800209,MedGen:C2751105 3 3 1.0000 condition_record_support_limited 20 0 2 Fibrosis_of_extraocular_muscles,_congenital,_3b 15 low_record_burden_interpretation_limited low_record_burden_gene KIF1A mondo_mondo_0009841_medgen_c1850055_omim_260565_orphanet_2836_orphanet_99807 PEHO syndrome MONDO:MONDO:0009841,MedGen:C1850055,OMIM:260565,Orphanet:2836,Orphanet:99807 3 3 1.0000 condition_record_support_limited 20 0 3 PEHO_syndrome 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIDINS220 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIAA0825 human_phenotype_ontology_hp_0005808_human_phenotype_ontology_hp_0100259_mondo_mondo_0020927_medgen_c0220697_omim_ps174200 Postaxial polydactyly Human_Phenotype_Ontology:HP:0005808,Human_Phenotype_Ontology:HP:0100259,MONDO:MONDO:0020927,MedGen:C0220697,OMIM:PS174200 3 3 1.0000 condition_record_support_limited 20 0 0 Postaxial_polydactyly 8 low_record_burden_interpretation_limited low_record_burden_gene KIAA0753 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 3 3 1.0000 condition_record_support_limited 20 0 3 Joubert_syndrome 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIAA0753 mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 Jeune thoracic dystrophy MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 3 3 1.0000 condition_record_support_limited 20 0 3 Jeune_thoracic_dystrophy 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNV2 mondo_mondo_0000455_medgen_c0730290_orphanet_1871 Cone dystrophy MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 3 3 1.0000 condition_record_support_limited 20 0 3 Cone_dystrophy 80 compact_adjacent_exon_block_opportunity local_compact_architecture KCNU1 mondo_mondo_0859352_medgen_c5774290_omim_620196 Spermatogenic failure 79 MONDO:MONDO:0859352,MedGen:C5774290,OMIM:620196 3 3 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_79 3 low_record_burden_interpretation_limited low_record_burden_gene KCNT1 mondo_mondo_0017385_medgen_cn262433_orphanet_293181 Malignant migrating partial seizures of infancy MONDO:MONDO:0017385,MedGen:CN262433,Orphanet:293181 3 3 1.0000 condition_record_support_limited 20 0 2 Malignant_migrating_partial_seizures_of_infancy 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ4 mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 3 3 1.0000 condition_record_support_limited 20 0 3 Nonsyndromic_genetic_hearing_loss 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ3 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 3 3 1.0000 condition_record_support_limited 20 0 1 Seizure 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 medgen_c3277700 Long QT syndrome 1/2, digenic MedGen:C3277700 3 3 1.0000 condition_record_support_limited 20 0 2 Long_QT_syndrome_1/2,_digenic 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNN4 mondo_mondo_0014737_medgen_c4225242_omim_616689_orphanet_3202 Dehydrated hereditary stomatocytosis 2 MONDO:MONDO:0014737,MedGen:C4225242,OMIM:616689,Orphanet:3202 3 3 1.0000 condition_record_support_limited 20 0 1 Dehydrated_hereditary_stomatocytosis_2 4 low_record_burden_interpretation_limited low_record_burden_gene KCNN2 human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Mild intellectual disability Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 3 3 1.0000 condition_record_support_limited 20 0 3 Mild_intellectual_disability 19 low_record_burden_interpretation_limited low_record_burden_gene KCNN2 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 3 3 1.0000 condition_record_support_limited 20 0 3 Cerebellar_ataxia 19 low_record_burden_interpretation_limited low_record_burden_gene KCNK9 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene KCNJ6 mondo_mondo_0013572_medgen_c3279800_omim_614098_orphanet_435628 Keppen-Lubinsky syndrome MONDO:MONDO:0013572,MedGen:C3279800,OMIM:614098,Orphanet:435628 3 3 1.0000 condition_record_support_limited 20 0 1 Keppen-Lubinsky_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene KCNJ5 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene KCNJ5 mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 3 3 1.0000 condition_record_support_limited 20 0 2 Long_QT_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene KCNJ2 efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 Cardiac arrhythmia EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 3 3 1.0000 condition_record_support_limited 20 0 3 Cardiac_arrhythmia 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ11 human_phenotype_ontology_hp_0008255_mondo_mondo_0020525_medgen_c0342273 Transitory neonatal diabetes mellitus Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273 3 3 1.0000 condition_record_support_limited 20 0 3 Transitory_neonatal_diabetes_mellitus 72 single_exon_hotspot_opportunity local_compact_architecture KCNJ11 mondo_mondo_0100165_medgen_c5393570_omim_606176 Permanent neonatal diabetes mellitus 1 MONDO:MONDO:0100165,MedGen:C5393570,OMIM:606176 3 3 1.0000 condition_record_support_limited 20 0 3 Permanent_neonatal_diabetes_mellitus_1 72 single_exon_hotspot_opportunity local_compact_architecture KCNJ11 kcnj11_related_disorder KCNJ11-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 KCNJ11-related_disorder 72 single_exon_hotspot_opportunity local_compact_architecture KCNJ10 mondo_mondo_0010134_medgen_c0271829_omim_274600_orphanet_705 Pendred syndrome MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705 3 3 1.0000 condition_record_support_limited 20 0 3 Pendred_syndrome 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNH2 mondo_mondo_0000453_medgen_c2348199_omim_ps609620_orphanet_51083 Short QT syndrome MONDO:MONDO:0000453,MedGen:C2348199,OMIM:PS609620,Orphanet:51083 3 3 1.0000 condition_record_support_limited 20 0 3 Short_QT_syndrome 720 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNH1 kcnh1_related_disorder KCNH1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 KCNH1-related_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNE1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 3 3 1.0000 condition_record_support_limited 20 0 3 Cardiovascular_phenotype 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNB1 developmental_encephalopathy_with_epilepsy developmental encephalopathy with epilepsy . 3 3 1.0000 condition_record_support_limited 20 0 3 developmental_encephalopathy_with_epilepsy 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNB1 kcnb1_related_disorder KCNB1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 KCNB1-related_disorder 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNA5 mondo_mondo_0012828_medgen_c2677106_omim_612240 Atrial fibrillation, familial, 7 MONDO:MONDO:0012828,MedGen:C2677106,OMIM:612240 3 3 1.0000 condition_record_support_limited 20 0 0 Atrial_fibrillation,_familial,_7 3 low_record_burden_interpretation_limited low_record_burden_gene KCNA3 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene KCNA1 medgen_c2674766 Myokymia 1 MedGen:C2674766 3 3 1.0000 condition_record_support_limited 20 0 2 Myokymia_1 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNA1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KBTBD13 mondo_mondo_0012237_medgen_c1836472_omim_609273_orphanet_171439 Nemaline myopathy 6 MONDO:MONDO:0012237,MedGen:C1836472,OMIM:609273,Orphanet:171439 3 3 1.0000 condition_record_support_limited 20 0 1 Nemaline_myopathy_6 3 low_record_burden_interpretation_limited low_record_burden_gene KATNIP katnip_related_disorder KATNIP-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 KATNIP-related_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KAT8 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene KAT6B autosomal_dominant_kat6b_related_disorders Autosomal dominant KAT6B-related disorders . 3 3 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_KAT6B-related_disorders 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6A mondo_mondo_0000508_medgen_c5680525_orphanet_183763 Syndromic intellectual disability MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 3 3 1.0000 condition_record_support_limited 20 0 2 Syndromic_intellectual_disability 191 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KASH5 mondo_mondo_0957822_medgen_c5882707_omim_620548 Premature ovarian failure 22 MONDO:MONDO:0957822,MedGen:C5882707,OMIM:620548 3 3 1.0000 condition_record_support_limited 20 0 3 Premature_ovarian_failure_22 7 low_record_burden_interpretation_limited low_record_burden_gene KARS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KARS1 mondo_mondo_0030967_medgen_c5543087_omim_619196 Deafness, congenital, and adult-onset progressive leukoencephalopathy MONDO:MONDO:0030967,MedGen:C5543087,OMIM:619196 3 3 1.0000 condition_record_support_limited 20 0 2 Deafness,_congenital,_and_adult-onset_progressive_leukoencephalopathy 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KARS1 mondo_mondo_0013338_medgen_c3150897_omim_613641_orphanet_254334 Charcot-Marie-Tooth disease recessive intermediate B MONDO:MONDO:0013338,MedGen:C3150897,OMIM:613641,Orphanet:254334 3 3 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease_recessive_intermediate_B 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KANSL1 kansl1_related_disorder KANSL1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 KANSL1-related_disorder 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KANSL1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JARID2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JAK2 condition_not_provided condition not provided .|MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 See_cases|not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene JAK2 mondo_mondo_0013794_medgen_c3281125_omim_614521 Thrombocythemia 3 MONDO:MONDO:0013794,MedGen:C3281125,OMIM:614521 3 3 1.0000 condition_record_support_limited 20 0 1 Thrombocythemia_3 8 low_record_burden_interpretation_limited low_record_burden_gene JAK1 mondo_mondo_0033558_medgen_c5436572_omim_618999 Autoinflammation, immune dysregulation, and eosinophilia MONDO:MONDO:0033558,MedGen:C5436572,OMIM:618999 3 3 1.0000 condition_record_support_limited 20 0 1 Autoinflammation,_immune_dysregulation,_and_eosinophilia 4 low_record_burden_interpretation_limited low_record_burden_gene ITPR3 mondo_mondo_0979570_medgen_c6012744_omim_621254 Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy MONDO:MONDO:0979570,MedGen:C6012744,OMIM:621254 3 3 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency_133_with_ectodermal_dysplasia_with_or_without_peripheral_neuropathy 6 low_record_burden_interpretation_limited low_record_burden_gene ITPA condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITK condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGB4 itgb4_related_disorder ITGB4-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 ITGB4-related_disorder 160 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ITGB4 mondo_mondo_0007551_medgen_c0080333_omim_131800_orphanet_79400 Epidermolysis bullosa simplex 1C, localized MONDO:MONDO:0007551,MedGen:C0080333,OMIM:131800,Orphanet:79400 3 3 1.0000 condition_record_support_limited 20 0 3 Epidermolysis_bullosa_simplex_1C,_localized 160 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture IRS4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene IRS4 mondo_mondo_0026732_medgen_c5231396_omim_301035 Hypothyroidism, congenital, nongoitrous, 9 MONDO:MONDO:0026732,MedGen:C5231396,OMIM:301035 3 3 1.0000 condition_record_support_limited 20 0 2 Hypothyroidism,_congenital,_nongoitrous,_9 4 low_record_burden_interpretation_limited low_record_burden_gene IRF6 mondo_mondo_0019508_medgen_c0175697_omim_ps119300_orphanet_888 Van der Woude syndrome MONDO:MONDO:0019508,MedGen:C0175697,OMIM:PS119300,Orphanet:888 3 3 1.0000 condition_record_support_limited 20 0 1 Van_der_Woude_syndrome 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IRF6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IRF4 mondo_mondo_0976229_medgen_c6012696_omim_621097 Immunodeficiency 131 MONDO:MONDO:0976229,MedGen:C6012696,OMIM:621097 3 3 1.0000 condition_record_support_limited 20 0 2 Immunodeficiency_131 3 low_record_burden_interpretation_limited low_record_burden_gene IRF2BP2 mondo_mondo_0054691_medgen_c4540380_omim_617765_orphanet_696904 Immunodeficiency, common variable, 14 MONDO:MONDO:0054691,MedGen:C4540380,OMIM:617765,Orphanet:696904 3 3 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency,_common_variable,_14 3 low_record_burden_interpretation_limited low_record_burden_gene IQSEC2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 3 3 1.0000 condition_record_support_limited 20 0 0 Seizure 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IQCB1 mondo_mondo_0017842_medgen_c0403553_omim_ps266900_orphanet_3156 Renal dysplasia and retinal aplasia MONDO:MONDO:0017842,MedGen:C0403553,OMIM:PS266900,Orphanet:3156 3 3 1.0000 condition_record_support_limited 20 0 2 Renal_dysplasia_and_retinal_aplasia 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INTS8 mondo_mondo_0032818_medgen_c5231415_omim_618572 Neurodevelopmental disorder with cerebellar hypoplasia and spasticity MONDO:MONDO:0032818,MedGen:C5231415,OMIM:618572 3 3 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_cerebellar_hypoplasia_and_spasticity 3 low_record_burden_interpretation_limited low_record_burden_gene INTS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 23 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture INSL6 condition_not_provided condition not provided .|MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 See_cases|not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene INSL6 mondo_mondo_0013794_medgen_c3281125_omim_614521 Thrombocythemia 3 MONDO:MONDO:0013794,MedGen:C3281125,OMIM:614521 3 3 1.0000 condition_record_support_limited 20 0 1 Thrombocythemia_3 8 low_record_burden_interpretation_limited low_record_burden_gene INS human_phenotype_ontology_hp_0000857_medgen_c3278636 Neonatal insulin-dependent diabetes mellitus Human_Phenotype_Ontology:HP:0000857,MedGen:C3278636 3 3 1.0000 condition_record_support_limited 20 0 2 Neonatal_insulin-dependent_diabetes_mellitus 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INPP5E human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy 79 compact_adjacent_exon_block_opportunity local_compact_architecture ING1 mondo_mondo_0010150_mesh_d000077195_medgen_c1168401_omim_275355_orphanet_67037 Squamous cell carcinoma of the head and neck MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037 3 3 1.0000 condition_record_support_limited 20 0 0 Squamous_cell_carcinoma_of_the_head_and_neck 3 low_record_burden_interpretation_limited low_record_burden_gene INF2 human_phenotype_ontology_hp_0000112_mondo_mondo_0005240_medgen_c0022658 Kidney disorder Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658 3 3 1.0000 condition_record_support_limited 20 0 2 Kidney_disorder 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INF2 inf2_related_disorder INF2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 INF2-related_disorder 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPDH1 mondo_mondo_0013454_medgen_c1840284_omim_613837_orphanet_65 Leber congenital amaurosis 11 MONDO:MONDO:0013454,MedGen:C1840284,OMIM:613837,Orphanet:65 3 3 1.0000 condition_record_support_limited 20 0 2 Leber_congenital_amaurosis_11 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ILDR1 ildr1_related_disorder ILDR1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 ILDR1-related_disorder 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL7 mondo_mondo_0032667_medgen_c4749043_omim_618309 Epidermodysplasia verruciformis, susceptibility to, 5 MONDO:MONDO:0032667,MedGen:C4749043,OMIM:618309 3 3 1.0000 condition_record_support_limited 20 0 0 Epidermodysplasia_verruciformis,_susceptibility_to,_5 3 low_record_burden_interpretation_limited low_record_burden_gene IL6ST mondo_mondo_0032796_medgen_c5193141_omim_618523 Hyper-IgE recurrent infection syndrome 4, autosomal recessive MONDO:MONDO:0032796,MedGen:C5193141,OMIM:618523 3 3 1.0000 condition_record_support_limited 20 0 1 Hyper-IgE_recurrent_infection_syndrome_4,_autosomal_recessive 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL11RA il11ra_related_disorder IL11RA-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 IL11RA-related_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IKZF1 mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 3 3 1.0000 condition_record_support_limited 20 0 1 Inherited_Immunodeficiency_Diseases 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IKBKG mondo_mondo_0800129_medgen_c5676885_omim_301081_orphanet_699605 Autoinflammatory disease, X-linked MONDO:MONDO:0800129,MedGen:C5676885,OMIM:301081,Orphanet:699605 3 3 1.0000 condition_record_support_limited 20 0 1 Autoinflammatory_disease,_X-linked 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IKBKB condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IKBKB mondo_mondo_0032599_medgen_c4748694_omim_618204_orphanet_700205 Immunodeficiency 15a MONDO:MONDO:0032599,MedGen:C4748694,OMIM:618204,Orphanet:700205 3 3 1.0000 condition_record_support_limited 20 0 3 Immunodeficiency_15a 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IKBKB ikbkb_related_disorder IKBKB-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 IKBKB-related_disorder 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IHH mondo_mondo_0020701_medgen_cn295859 Brachydactyly type A1A MONDO:MONDO:0020701,MedGen:CN295859 3 3 1.0000 condition_record_support_limited 20 0 2 Brachydactyly_type_A1A 48 compact_adjacent_exon_block_opportunity local_compact_architecture IGFALS condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene IGFALS monogenic_short_statue Monogenic short statue . 3 3 1.0000 condition_record_support_limited 20 0 0 Monogenic_short_statue 11 low_record_burden_interpretation_limited low_record_burden_gene IGF2R human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Hepatocellular carcinoma Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 3 3 1.0000 condition_record_support_limited 20 0 0 Hepatocellular_carcinoma 4 low_record_burden_interpretation_limited low_record_burden_gene IGF2 mondo_mondo_0020796_medgen_c5393125_omim_180860_orphanet_813 Silver-Russell syndrome 1 MONDO:MONDO:0020796,MedGen:C5393125,OMIM:180860,Orphanet:813 3 3 1.0000 condition_record_support_limited 20 0 2 Silver-Russell_syndrome_1 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGF1R mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT172 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 157 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture IFT122 ift122_related_disorder IFT122-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 IFT122-related_disorder 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFITM5 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene IFITM5 mondo_mondo_0012591_medgen_c2931093_omim_610967_orphanet_216828 Osteogenesis imperfecta type 5 MONDO:MONDO:0012591,MedGen:C2931093,OMIM:610967,Orphanet:216828 3 3 1.0000 condition_record_support_limited 20 0 3 Osteogenesis_imperfecta_type_5 3 low_record_burden_interpretation_limited low_record_burden_gene IFIH1 mondo_mondo_0030692_medgen_c5676929_omim_619773 Immunodeficiency 95 MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773 3 3 1.0000 condition_record_support_limited 20 0 2 Immunodeficiency_95 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDH2 mondo_mondo_0013345_medgen_c3150909_omim_613657_orphanet_79315 D-2-hydroxyglutaric aciduria 2 MONDO:MONDO:0013345,MedGen:C3150909,OMIM:613657,Orphanet:79315 3 3 1.0000 condition_record_support_limited 20 0 1 D-2-hydroxyglutaric_aciduria_2 6 low_record_burden_interpretation_limited low_record_burden_gene IDH1 human_phenotype_ontology_hp_0005701_mondo_mondo_0008145_medgen_c0014084_omim_166000_orphanet_296 Enchondromatosis Human_Phenotype_Ontology:HP:0005701,MONDO:MONDO:0008145,MedGen:C0014084,OMIM:166000,Orphanet:296 3 3 1.0000 condition_record_support_limited 20 0 3 Enchondromatosis 6 low_record_burden_interpretation_limited low_record_burden_gene HYCC1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HUWE1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 75 large_gene_or_donor_burden_stress_case donor_burden_stress HTRA1 medgen_c5680099_orphanet_482072 HTRA1-related cerebral small vessel disease MedGen:C5680099,Orphanet:482072 3 3 1.0000 condition_record_support_limited 20 0 3 HTRA1-related_cerebral_small_vessel_disease 40 compact_adjacent_exon_block_opportunity local_compact_architecture HSPG2 hspg2_related_disorder HSPG2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 HSPG2-related_disorder 116 large_gene_or_donor_burden_stress_case donor_burden_stress HSPD1 mondo_mondo_0012824_medgen_c2677109_omim_612233_orphanet_280270_orphanet_280288 Hypomyelinating leukodystrophy 4 MONDO:MONDO:0012824,MedGen:C2677109,OMIM:612233,Orphanet:280270,Orphanet:280288 3 3 1.0000 condition_record_support_limited 20 0 1 Hypomyelinating_leukodystrophy_4 8 low_record_burden_interpretation_limited low_record_burden_gene HSPB1 hspb1_related_disorder HSPB1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 HSPB1-related_disorder 39 compact_adjacent_exon_block_opportunity local_compact_architecture HSPA9 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene HSF4 hsf4_related_disorder HSF4-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 HSF4-related_disorder 21 compact_adjacent_exon_block_opportunity local_compact_architecture HSD3B2 hsd3b2_related_disorder HSD3B2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 HSD3B2-related_disorder 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSD17B4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HROB mondo_mondo_0971176_medgen_c5935637_omim_620897 Ovarian dysgenesis 11 MONDO:MONDO:0971176,MedGen:C5935637,OMIM:620897 3 3 1.0000 condition_record_support_limited 20 0 1 Ovarian_dysgenesis_11 3 low_record_burden_interpretation_limited low_record_burden_gene HRAS human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 3 3 1.0000 condition_record_support_limited 20 0 3 Non-immune_hydrops_fetalis 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPS5 hps5_related_disorder HPS5-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 HPS5-related_disorder 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPD condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HOXB1 mondo_mondo_0013880_medgen_c3553625_omim_614744_orphanet_306530 Facial paresis, hereditary congenital, 3 MONDO:MONDO:0013880,MedGen:C3553625,OMIM:614744,Orphanet:306530 3 3 1.0000 condition_record_support_limited 20 0 0 Facial_paresis,_hereditary_congenital,_3 3 low_record_burden_interpretation_limited low_record_burden_gene HOXA13 mondo_mondo_0008301_medgen_c1867801_omim_176305_orphanet_2957 Guttmacher syndrome MONDO:MONDO:0008301,MedGen:C1867801,OMIM:176305,Orphanet:2957 3 3 1.0000 condition_record_support_limited 20 0 3 Guttmacher_syndrome 12 low_record_burden_interpretation_limited low_record_burden_gene HOXA1 mondo_mondo_0011099_medgen_c1832215_omim_601536_orphanet_69737_orphanet_69739 Human HOXA1 syndromes MONDO:MONDO:0011099,MedGen:C1832215,OMIM:601536,Orphanet:69737,Orphanet:69739 3 3 1.0000 condition_record_support_limited 20 0 2 Human_HOXA1_syndromes 5 low_record_burden_interpretation_limited low_record_burden_gene HOXA1 mondo_mondo_0019075_medgen_c1832216_orphanet_69737 Bosley-Salih-Alorainy syndrome MONDO:MONDO:0019075,MedGen:C1832216,Orphanet:69737 3 3 1.0000 condition_record_support_limited 20 0 1 Bosley-Salih-Alorainy_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene HNRNPU human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 3 3 1.0000 condition_record_support_limited 20 0 2 Epileptic_encephalopathy 148 compact_adjacent_exon_block_opportunity local_compact_architecture HNRNPR condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene HNRNPK hnrnpk_related_disorder HNRNPK-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 HNRNPK-related_disorder 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNRNPA2B1 mondo_mondo_0958195_medgen_c5830682_omim_620460 Oculopharyngeal muscular dystrophy 2 MONDO:MONDO:0958195,MedGen:C5830682,OMIM:620460 3 3 1.0000 condition_record_support_limited 20 0 0 Oculopharyngeal_muscular_dystrophy_2 6 low_record_burden_interpretation_limited low_record_burden_gene HNF1B human_phenotype_ontology_hp_0004719_medgen_c3275899 Hyperechogenic kidneys Human_Phenotype_Ontology:HP:0004719,MedGen:C3275899 3 3 1.0000 condition_record_support_limited 20 0 3 Hyperechogenic_kidneys 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMGCL mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMBS mondo_mondo_0958226_medgen_c5935575_omim_620711 Leukoencephalopathy, porphyria-related MONDO:MONDO:0958226,MedGen:C5935575,OMIM:620711 3 3 1.0000 condition_record_support_limited 20 0 2 Leukoencephalopathy,_porphyria-related 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HKDC1 mondo_mondo_0030619_medgen_c5562022_omim_619614 Retinitis pigmentosa 92 MONDO:MONDO:0030619,MedGen:C5562022,OMIM:619614 3 3 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa_92 6 low_record_burden_interpretation_limited low_record_burden_gene HK1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HIVEP2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 74 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture HINT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HIKESHI mondo_mondo_0014813_medgen_c4225170_omim_616881 Hypomyelinating leukodystrophy 13 MONDO:MONDO:0014813,MedGen:C4225170,OMIM:616881 3 3 1.0000 condition_record_support_limited 20 0 1 Hypomyelinating_leukodystrophy_13 5 low_record_burden_interpretation_limited low_record_burden_gene HIF1A human_phenotype_ontology_hp_0005701_mondo_mondo_0008145_medgen_c0014084_omim_166000_orphanet_296 Enchondromatosis Human_Phenotype_Ontology:HP:0005701,MONDO:MONDO:0008145,MedGen:C0014084,OMIM:166000,Orphanet:296 3 3 1.0000 condition_record_support_limited 20 0 0 Enchondromatosis 6 low_record_burden_interpretation_limited low_record_burden_gene HID1 condition_not_provided condition not provided .|MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 See_cases|not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene HIBCH mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HHAT mondo_mondo_0010814_medgen_c1838654_omim_600092_orphanet_1422 Chondrodysplasia-pseudohermaphroditism syndrome MONDO:MONDO:0010814,MedGen:C1838654,OMIM:600092,Orphanet:1422 3 3 1.0000 condition_record_support_limited 20 0 0 Chondrodysplasia-pseudohermaphroditism_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene HGF mondo_mondo_0012003_medgen_c1842342_omim_608265_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 39 MONDO:MONDO:0012003,MedGen:C1842342,OMIM:608265,Orphanet:90636 3 3 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_nonsyndromic_hearing_loss_39 9 low_record_burden_interpretation_limited low_record_burden_gene HFE condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HFE mondo_mondo_0007088_medgen_c1863052_omim_104300 Alzheimer disease type 1 MONDO:MONDO:0007088,MedGen:C1863052,OMIM:104300 3 3 1.0000 condition_record_support_limited 20 0 3 Alzheimer_disease_type_1 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEXB mondo_mondo_0017723_medgen_c0751489_orphanet_309169 Sandhoff disease, adult form MONDO:MONDO:0017723,MedGen:C0751489,Orphanet:309169 3 3 1.0000 condition_record_support_limited 20 0 2 Sandhoff_disease,_adult_form 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HESX1 pituitary_hormone_deficiency_combined_5 PITUITARY HORMONE DEFICIENCY, COMBINED, 5 MedGen:CN042968 3 3 1.0000 condition_record_support_limited 20 0 0 PITUITARY_HORMONE_DEFICIENCY,_COMBINED,_5 21 compact_adjacent_exon_block_opportunity local_compact_architecture HERC2 medgen_c1856895_omim_227220 SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES MedGen:C1856895,OMIM:227220 3 3 1.0000 condition_record_support_limited 20 0 1 SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES 23 large_gene_or_donor_burden_stress_case donor_burden_stress HERC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 50 large_gene_or_donor_burden_stress_case donor_burden_stress HEATR3 mondo_mondo_0007110_medgen_c2676137_omim_105650_orphanet_124 Diamond-Blackfan anemia 1 MONDO:MONDO:0007110,MedGen:C2676137,OMIM:105650,Orphanet:124 3 3 1.0000 condition_record_support_limited 20 0 3 Diamond-Blackfan_anemia_1 5 low_record_burden_interpretation_limited low_record_burden_gene HDC mondo_mondo_0007661_medgen_c0040517_omim_137580 Tourette syndrome MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580 3 3 1.0000 condition_record_support_limited 20 0 0 Tourette_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene HDAC8 mondo_mondo_0007387_medgen_c4551851_omim_122470_orphanet_199 Cornelia de Lange syndrome 1 MONDO:MONDO:0007387,MedGen:C4551851,OMIM:122470,Orphanet:199 3 3 1.0000 condition_record_support_limited 20 0 2 Cornelia_de_Lange_syndrome_1 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HDAC6 mondo_mondo_0010463_medgen_c3275476_omim_300863_orphanet_163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type MONDO:MONDO:0010463,MedGen:C3275476,OMIM:300863,Orphanet:163966 3 3 1.0000 condition_record_support_limited 20 0 0 X-linked_dominant_chondrodysplasia,_Chassaing-Lacombe_type 3 low_record_burden_interpretation_limited low_record_burden_gene HCN4 hcn4_related_disorder HCN4-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 HCN4-related_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HBD medgen_c0472769 Hemoglobin Lepore trait MedGen:C0472769 3 3 1.0000 condition_record_support_limited 20 0 1 Hemoglobin_Lepore_trait 14 low_record_burden_interpretation_limited low_record_burden_gene HBB medgen_c2720293 Malaria, resistance to MedGen:C2720293 3 3 1.0000 condition_record_support_limited 20 0 3 Malaria,_resistance_to 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB medgen_c0472769 Hemoglobin Lepore trait MedGen:C0472769 3 3 1.0000 condition_record_support_limited 20 0 1 Hemoglobin_Lepore_trait 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBA2 mondo_mondo_0019402_medgen_c0005283_orphanet_848 beta Thalassemia MONDO:MONDO:0019402,MedGen:C0005283,Orphanet:848 3 3 1.0000 condition_record_support_limited 20 0 3 beta_Thalassemia 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 medgen_c3278365 HEMOGLOBIN H HYDROPS FETALIS SYNDROME MedGen:C3278365 3 3 1.0000 condition_record_support_limited 20 0 3 HEMOGLOBIN_H_HYDROPS_FETALIS_SYNDROME 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 medgen_c1456873 Alpha-thalassemia, Dutch type MedGen:C1456873 3 3 1.0000 condition_record_support_limited 20 0 3 Alpha-thalassemia,_Dutch_type 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 medgen_c3279561 Hemoglobin H disease, nondeletional MedGen:C3279561 3 3 1.0000 condition_record_support_limited 20 0 3 Hemoglobin_H_disease,_nondeletional 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hba1_related_disorder HBA1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 HBA1-related_disorder 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HAX1 mondo_mondo_0018542_medgen_c1853118_omim_ps202700_orphanet_42738 Severe congenital neutropenia MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738 3 3 1.0000 condition_record_support_limited 20 0 3 Severe_congenital_neutropenia 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HARS1 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 3 3 1.0000 condition_record_support_limited 20 0 3 Spastic_ataxia 10 low_record_burden_interpretation_limited low_record_burden_gene HARS1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 10 low_record_burden_interpretation_limited low_record_burden_gene HARS1 human_phenotype_ontology_hp_0001260_human_phenotype_ontology_hp_0002327_medgen_c0013362 Dysarthria Human_Phenotype_Ontology:HP:0001260,Human_Phenotype_Ontology:HP:0002327,MedGen:C0013362 3 3 1.0000 condition_record_support_limited 20 0 3 Dysarthria 10 low_record_burden_interpretation_limited low_record_burden_gene HADHB hadhb_related_disorder HADHB-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 HADHB-related_disorder 101 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HADHA hadha_related_disorder HADHA-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 HADHA-related_disorder 238 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GYS2 gys2_related_disorder GYS2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 GYS2-related_disorder 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUSB human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 3 3 1.0000 condition_record_support_limited 20 0 2 Non-immune_hydrops_fetalis 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2D human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 3 3 1.0000 condition_record_support_limited 20 0 3 Retinal_disorder 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2D mondo_mondo_0000455_medgen_c0730290_orphanet_1871 Cone dystrophy MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 3 3 1.0000 condition_record_support_limited 20 0 3 Cone_dystrophy 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GTPBP1 mondo_mondo_0975745_medgen_c5975340_omim_620888 Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 MONDO:MONDO:0975745,MedGen:C5975340,OMIM:620888 3 3 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_characteristic_facial_and_ectodermal_features_and_tetraparesis_1 3 low_record_burden_interpretation_limited low_record_burden_gene GSN condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene GSDME condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene GSC mondo_mondo_0011227_medgen_c1865361_omim_602471_orphanet_397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome MONDO:MONDO:0011227,MedGen:C1865361,OMIM:602471,Orphanet:397623 3 3 1.0000 condition_record_support_limited 20 0 0 Short_stature-auditory_canal_atresia-mandibular_hypoplasia-skeletal_anomalies_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene GRXCR1 grxcr1_related_disorder GRXCR1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 GRXCR1-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene GRN mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRM7 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 3 3 1.0000 condition_record_support_limited 20 0 3 Seizure 10 low_record_burden_interpretation_limited low_record_burden_gene GRM7 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 3 3 1.0000 condition_record_support_limited 20 0 3 Hypotonia 10 low_record_burden_interpretation_limited low_record_burden_gene GRM7 human_phenotype_ontology_hp_0012444_medgen_c4551584 Brain atrophy Human_Phenotype_Ontology:HP:0012444,MedGen:C4551584 3 3 1.0000 condition_record_support_limited 20 0 3 Brain_atrophy 10 low_record_burden_interpretation_limited low_record_burden_gene GRM1 mondo_mondo_0033479_medgen_c4521563_omim_617691_orphanet_631095 Spinocerebellar ataxia 44 MONDO:MONDO:0033479,MedGen:C4521563,OMIM:617691,Orphanet:631095 3 3 1.0000 condition_record_support_limited 20 0 1 Spinocerebellar_ataxia_44 14 low_record_burden_interpretation_limited low_record_burden_gene GRK2 mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 Jeune thoracic dystrophy MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 3 3 1.0000 condition_record_support_limited 20 0 0 Jeune_thoracic_dystrophy 3 low_record_burden_interpretation_limited low_record_burden_gene GRK1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 21 compact_adjacent_exon_block_opportunity local_compact_architecture GRIN2B intellectual_deficiency intellectual deficiency MedGen:CN228659 3 3 1.0000 condition_record_support_limited 20 0 3 intellectual_deficiency 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B medgen_c0008073 Developmental disorder MedGen:C0008073 3 3 1.0000 condition_record_support_limited 20 0 1 Developmental_disorder 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Atypical behavior Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 3 3 1.0000 condition_record_support_limited 20 0 3 Atypical_behavior 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIA1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene GRHPR mondo_mondo_0002474_medgen_c0020501_omim_ps259900_orphanet_416 Primary hyperoxaluria MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416 3 3 1.0000 condition_record_support_limited 20 0 3 Primary_hyperoxaluria 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRHL3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRHL2 human_phenotype_ontology_hp_0001131_human_phenotype_ontology_hp_0007775_mondo_mondo_0018102_medgen_c0010036_orphanet_34533 Corneal dystrophy Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533 3 3 1.0000 condition_record_support_limited 20 0 2 Corneal_dystrophy 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GREB1L mondo_mondo_0010173_medgen_c5566555_omim_277000_orphanet_247775 Mayer Rokitansky Kuster Hauser syndrome type 1 MONDO:MONDO:0010173,MedGen:C5566555,OMIM:277000,Orphanet:247775 3 3 1.0000 condition_record_support_limited 20 0 1 Mayer_Rokitansky_Kuster_Hauser_syndrome_type_1 86 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture GPT2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene GPSM2 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 3 3 1.0000 condition_record_support_limited 20 0 3 Hearing_loss,_autosomal_recessive 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPR68 mondo_mondo_0014971_medgen_c4310665_omim_617217 Amelogenesis imperfecta, hypomaturation type, IIa6 MONDO:MONDO:0014971,MedGen:C4310665,OMIM:617217 3 3 1.0000 condition_record_support_limited 20 0 3 Amelogenesis_imperfecta,_hypomaturation_type,_IIa6 4 low_record_burden_interpretation_limited low_record_burden_gene GPR143 gpr143_related_disorder GPR143-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 GPR143-related_disorder 112 compact_adjacent_exon_block_opportunity local_compact_architecture GPLD1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 21 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture GPHN mondo_mondo_0014495_medgen_c4015242_omim_616108_orphanet_436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome MONDO:MONDO:0014495,MedGen:C4015242,OMIM:616108,Orphanet:436245 3 3 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa-juvenile_cataract-short_stature-intellectual_disability_syndrome 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPHN human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 3 3 1.0000 condition_record_support_limited 20 0 3 Macular_dystrophy 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPC4 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene GPAT2 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 3 3 1.0000 condition_record_support_limited 20 0 0 Male_infertility 3 low_record_burden_interpretation_limited low_record_burden_gene GPAA1 gpaa1_related_disorder GPAA1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 GPAA1-related_disorder 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP9 human_phenotype_ontology_hp_0040185_medgen_c2751260 Macrothrombocytopenia Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260 3 3 1.0000 condition_record_support_limited 20 0 3 Macrothrombocytopenia 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP1BB medgen_c1856447 Bernard-Soulier syndrome, type B MedGen:C1856447 3 3 1.0000 condition_record_support_limited 20 0 2 Bernard-Soulier_syndrome,_type_B 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNPTAB mondo_mondo_0100122_medgen_cn322573 GNPTAB-mucolipidosis MONDO:MONDO:0100122,MedGen:CN322573 3 3 1.0000 condition_record_support_limited 20 0 2 GNPTAB-mucolipidosis 436 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0002278_human_phenotype_ontology_hp_0002384_medgen_c0270834 Focal impaired awareness seizure Human_Phenotype_Ontology:HP:0002278,Human_Phenotype_Ontology:HP:0002384,MedGen:C0270834 3 3 1.0000 condition_record_support_limited 20 0 3 Focal_impaired_awareness_seizure 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0002449_human_phenotype_ontology_hp_0002523_human_phenotype_ontology_hp_0008947_human_phenotype_ontology_hp_0010572_medgen_c1860834 Floppy infant Human_Phenotype_Ontology:HP:0002449,Human_Phenotype_Ontology:HP:0002523,Human_Phenotype_Ontology:HP:0008947,Human_Phenotype_Ontology:HP:0010572,MedGen:C1860834 3 3 1.0000 condition_record_support_limited 20 0 3 Floppy_infant 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0011968_medgen_c0232466 Feeding difficulties Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466 3 3 1.0000 condition_record_support_limited 20 0 3 Feeding_difficulties 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0002474_human_phenotype_ontology_hp_0007192_medgen_c0454641 Expressive language delay Human_Phenotype_Ontology:HP:0002474,Human_Phenotype_Ontology:HP:0007192,MedGen:C0454641 3 3 1.0000 condition_record_support_limited 20 0 3 Expressive_language_delay 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0010842_human_phenotype_ontology_hp_0011198_medgen_c4023476 EEG with generalized epileptiform discharges Human_Phenotype_Ontology:HP:0010842,Human_Phenotype_Ontology:HP:0011198,MedGen:C4023476 3 3 1.0000 condition_record_support_limited 20 0 3 EEG_with_generalized_epileptiform_discharges 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0004803_human_phenotype_ontology_hp_0005555_human_phenotype_ontology_hp_0006721_mondo_mondo_0004967_medgen_c0023449_omim_613065_orphanet_513 Acute lymphoid leukemia Human_Phenotype_Ontology:HP:0004803,Human_Phenotype_Ontology:HP:0005555,Human_Phenotype_Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513 3 3 1.0000 condition_record_support_limited 20 0 3 Acute_lymphoid_leukemia 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAT2 human_phenotype_ontology_hp_0011516_mondo_mondo_0018852_medgen_c0152200_orphanet_49382 Achromatopsia Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382 3 3 1.0000 condition_record_support_limited 20 0 2 Achromatopsia 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAT1 mondo_mondo_0012497_medgen_c1864870_omim_610444_orphanet_215 Congenital stationary night blindness autosomal dominant 3 MONDO:MONDO:0012497,MedGen:C1864870,OMIM:610444,Orphanet:215 3 3 1.0000 condition_record_support_limited 20 0 1 Congenital_stationary_night_blindness_autosomal_dominant_3 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS disorders_of_gnas_inactivation Disorders of GNAS Inactivation . 3 3 1.0000 condition_record_support_limited 20 0 2 Disorders_of_GNAS_Inactivation 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GMNN mondo_mondo_0014794_medgen_c4225188_omim_616835_orphanet_2554 Meier-Gorlin syndrome 6 MONDO:MONDO:0014794,MedGen:C4225188,OMIM:616835,Orphanet:2554 3 3 1.0000 condition_record_support_limited 20 0 3 Meier-Gorlin_syndrome_6 3 low_record_burden_interpretation_limited low_record_burden_gene GMNN mondo_mondo_0016817_medgen_c1868684_omim_ps224690_orphanet_2554 Meier-Gorlin syndrome MONDO:MONDO:0016817,MedGen:C1868684,OMIM:PS224690,Orphanet:2554 3 3 1.0000 condition_record_support_limited 20 0 3 Meier-Gorlin_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene GM2A condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene GLYCTK mondo_mondo_0009070_medgen_c0342765_omim_220120_orphanet_941 D-Glyceric aciduria MONDO:MONDO:0009070,MedGen:C0342765,OMIM:220120,Orphanet:941 3 3 1.0000 condition_record_support_limited 20 0 0 D-Glyceric_aciduria 5 low_record_burden_interpretation_limited low_record_burden_gene GLS mondo_mondo_0032685_medgen_c5193037_omim_618339 Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:MONDO:0032685,MedGen:C5193037,OMIM:618339 3 3 1.0000 condition_record_support_limited 20 0 0 Infantile_cataract,_skin_abnormalities,_glutamate_excess,_and_impaired_intellectual_development 18 low_record_burden_interpretation_limited low_record_burden_gene GLMN vascular_skin_disorders Vascular skin disorders . 3 3 1.0000 condition_record_support_limited 20 0 3 Vascular_skin_disorders 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI3 medgen_c4016298 Postaxial polydactyly, type A1/B MedGen:C4016298 3 3 1.0000 condition_record_support_limited 20 0 1 Postaxial_polydactyly,_type_A1/B 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided|not_specified 10 low_record_burden_interpretation_limited low_record_burden_gene GLDN human_phenotype_ontology_hp_0001561_human_phenotype_ontology_hp_0005098_mondo_mondo_0004585_medgen_c0020224 Polyhydramnios Human_Phenotype_Ontology:HP:0001561,Human_Phenotype_Ontology:HP:0005098,MONDO:MONDO:0004585,MedGen:C0020224 3 3 1.0000 condition_record_support_limited 20 0 3 Polyhydramnios 26 compact_adjacent_exon_block_opportunity local_compact_architecture GLA mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 Primary familial hypertrophic cardiomyopathy MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 3 3 1.0000 condition_record_support_limited 20 0 3 Primary_familial_hypertrophic_cardiomyopathy 1115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB6 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene GJB6 mondo_mondo_0012977_medgen_c2675235_omim_612645_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 1B MONDO:MONDO:0012977,MedGen:C2675235,OMIM:612645,Orphanet:90636 3 3 1.0000 condition_record_support_limited 20 0 3 Autosomal_recessive_nonsyndromic_hearing_loss_1B 10 low_record_burden_interpretation_limited low_record_burden_gene GJB6 mondo_mondo_0009076_medgen_c2673759_omim_220290_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 1A MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290,Orphanet:90636 3 3 1.0000 condition_record_support_limited 20 0 3 Autosomal_recessive_nonsyndromic_hearing_loss_1A 10 low_record_burden_interpretation_limited low_record_burden_gene GJB4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene GJB2 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 3 3 1.0000 condition_record_support_limited 20 0 3 Sensorineural_hearing_loss_disorder 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 3 3 1.0000 condition_record_support_limited 20 0 3 Ear_malformation 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 medgen_c0011053 Deafness MedGen:C0011053 3 3 1.0000 condition_record_support_limited 20 0 3 Deafness 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB1 human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Peripheral neuropathy Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 3 3 1.0000 condition_record_support_limited 20 0 2 Peripheral_neuropathy 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA8 gja8_related_disorder GJA8-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 GJA8-related_disorder 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA8 human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 3 3 1.0000 condition_record_support_limited 20 0 3 Developmental_cataract 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA3 human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 3 3 1.0000 condition_record_support_limited 20 0 3 Developmental_cataract 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA1 gja1_related_disorder GJA1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 GJA1-related_disorder 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA1 medgen_c0344783 Atrioventricular septal defect and common atrioventricular junction MedGen:C0344783 3 3 1.0000 condition_record_support_limited 20 0 2 Atrioventricular_septal_defect_and_common_atrioventricular_junction 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GIPC3 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 3 3 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 28 compact_adjacent_exon_block_opportunity local_compact_architecture GIMAP5 mondo_mondo_0030397_medgen_c5561948_omim_619463 Portal hypertension, noncirrhotic, 2 MONDO:MONDO:0030397,MedGen:C5561948,OMIM:619463 3 3 1.0000 condition_record_support_limited 20 0 3 Portal_hypertension,_noncirrhotic,_2 3 low_record_burden_interpretation_limited low_record_burden_gene GIMAP5 human_phenotype_ontology_hp_0001409_mondo_mondo_0005080_mesh_d006975_medgen_c0020541 Portal hypertension Human_Phenotype_Ontology:HP:0001409,MONDO:MONDO:0005080,MeSH:D006975,MedGen:C0020541 3 3 1.0000 condition_record_support_limited 20 0 3 Portal_hypertension 3 low_record_burden_interpretation_limited low_record_burden_gene GIGYF1 condition_not_provided condition not provided MedGen:CN169374 3 3 1.0000 condition_record_support_limited 20 3 0 not_specified 17 low_record_burden_interpretation_limited low_record_burden_gene GHR medgen_c4016706 Laron syndrome with undetectable serum GH-binding protein MedGen:C4016706 3 3 1.0000 condition_record_support_limited 20 0 1 Laron_syndrome_with_undetectable_serum_GH-binding_protein 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GHR mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 3 3 1.0000 condition_record_support_limited 20 0 3 Hypercholesterolemia,_familial,_1 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GH1 mondo_mondo_0013006_medgen_c2748571_omim_612781_orphanet_231671_orphanet_631 Isolated growth hormone deficiency type IB MONDO:MONDO:0013006,MedGen:C2748571,OMIM:612781,Orphanet:231671,Orphanet:631 3 3 1.0000 condition_record_support_limited 20 0 1 Isolated_growth_hormone_deficiency_type_IB 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GGPS1 mondo_mondo_0859189_medgen_c5561980_omim_619518 Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome MONDO:MONDO:0859189,MedGen:C5561980,OMIM:619518 3 3 1.0000 condition_record_support_limited 20 0 0 Muscular_dystrophy,_congenital_hearing_loss,_and_ovarian_insufficiency_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene GGCX ggcx_related_disorder GGCX-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 GGCX-related_disorder 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GFRA1 mondo_mondo_0030822_medgen_c5676993_omim_619887 Renal hypodysplasia/aplasia 4 MONDO:MONDO:0030822,MedGen:C5676993,OMIM:619887 3 3 1.0000 condition_record_support_limited 20 0 0 Renal_hypodysplasia/aplasia_4 4 low_record_burden_interpretation_limited low_record_burden_gene GFAP gfap_related_disorder GFAP-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 GFAP-related_disorder 74 compact_adjacent_exon_block_opportunity local_compact_architecture GEMIN4 mondo_mondo_0060664_medgen_c4693567_omim_617913 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities MONDO:MONDO:0060664,MedGen:C4693567,OMIM:617913 3 3 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_microcephaly,_cataracts,_and_renal_abnormalities 3 low_record_burden_interpretation_limited low_record_burden_gene GDAP1 human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Peripheral neuropathy Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 3 3 1.0000 condition_record_support_limited 20 0 1 Peripheral_neuropathy 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCSH condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene GCM2 mondo_mondo_0016390_medgen_c1832648_omim_ps146200_orphanet_2238 Familial hypoparathyroidism MONDO:MONDO:0016390,MedGen:C1832648,OMIM:PS146200,Orphanet:2238 3 3 1.0000 condition_record_support_limited 20 0 2 Familial_hypoparathyroidism 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCH1 human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 3 3 1.0000 condition_record_support_limited 20 0 2 Dystonic_disorder 113 compact_adjacent_exon_block_opportunity local_compact_architecture GBE1 mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 Glycogen storage disease MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 3 3 1.0000 condition_record_support_limited 20 0 3 Glycogen_storage_disease 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA1 human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 3 3 1.0000 condition_record_support_limited 20 0 3 Thrombocytopenia 360 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA1 human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 3 3 1.0000 condition_record_support_limited 20 0 3 Abnormal_bleeding 360 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATAD1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA6 human_phenotype_ontology_hp_0001636_mondo_mondo_0008542_medgen_c0039685_omim_187500_orphanet_3303 Tetralogy of Fallot Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303 3 3 1.0000 condition_record_support_limited 20 0 2 Tetralogy_of_Fallot 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA6 mondo_mondo_0016581_medgen_c1857586_omim_217095_orphanet_2445_orphanet_3384_orphanet_3426 Conotruncal heart malformations MONDO:MONDO:0016581,MedGen:C1857586,OMIM:217095,Orphanet:2445,Orphanet:3384,Orphanet:3426 3 3 1.0000 condition_record_support_limited 20 0 2 Conotruncal_heart_malformations 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA6 human_phenotype_ontology_hp_0000776_human_phenotype_ontology_hp_0006604_mondo_mondo_0005711_mesh_d065630_medgen_c0235833_omim_ps142340_orphanet_2140 Congenital diaphragmatic hernia Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140 3 3 1.0000 condition_record_support_limited 20 0 3 Congenital_diaphragmatic_hernia 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA6 human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Abnormal cardiovascular system morphology Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 3 3 1.0000 condition_record_support_limited 20 0 3 Abnormal_cardiovascular_system_morphology 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA4 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA4 mondo_mondo_0013746_medgen_c3280777_omim_614429 Ventricular septal defect 1 MONDO:MONDO:0013746,MedGen:C3280777,OMIM:614429 3 3 1.0000 condition_record_support_limited 20 0 2 Ventricular_septal_defect_1 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA4 mondo_mondo_0014239_medgen_c3809858_omim_615542_orphanet_251510 Testicular anomalies with or without congenital heart disease MONDO:MONDO:0014239,MedGen:C3809858,OMIM:615542,Orphanet:251510 3 3 1.0000 condition_record_support_limited 20 0 2 Testicular_anomalies_with_or_without_congenital_heart_disease 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA1 human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 3 3 1.0000 condition_record_support_limited 20 0 3 Thrombocytopenia 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA1 mondo_mondo_0010745_medgen_c1839161_omim_314050_orphanet_231393 Beta-thalassemia-X-linked thrombocytopenia syndrome MONDO:MONDO:0010745,MedGen:C1839161,OMIM:314050,Orphanet:231393 3 3 1.0000 condition_record_support_limited 20 0 3 Beta-thalassemia-X-linked_thrombocytopenia_syndrome 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GARS1 mondo_mondo_0033621_medgen_c5436669_omim_619042 Spinal muscular atrophy, infantile, James type MONDO:MONDO:0033621,MedGen:C5436669,OMIM:619042 3 3 1.0000 condition_record_support_limited 20 0 2 Spinal_muscular_atrophy,_infantile,_James_type 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GARS1 mondo_mondo_0100350_medgen_c1833308_orphanet_139536 Neuronopathy, distal hereditary motor, type 5 MONDO:MONDO:0100350,MedGen:C1833308,Orphanet:139536 3 3 1.0000 condition_record_support_limited 20 0 3 Neuronopathy,_distal_hereditary_motor,_type_5 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GARS1 mondo_mondo_0018894_medgen_c0393541_orphanet_53739 Distal spinal muscular atrophy MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739 3 3 1.0000 condition_record_support_limited 20 0 3 Distal_spinal_muscular_atrophy 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GANAB ganab_related_disorder GANAB-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 GANAB-related_disorder 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALM condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene GALM mondo_mondo_0030105_medgen_c5394377_omim_618881_orphanet_570422 Galactosemia 4 MONDO:MONDO:0030105,MedGen:C5394377,OMIM:618881,Orphanet:570422 3 3 1.0000 condition_record_support_limited 20 0 1 Galactosemia_4 5 low_record_burden_interpretation_limited low_record_burden_gene GABRG2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 3 3 1.0000 condition_record_support_limited 20 0 3 Seizure 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRG2 medgen_c1858674 Generalized epilepsy with febrile seizures plus 3 MedGen:C1858674 3 3 1.0000 condition_record_support_limited 20 0 3 Generalized_epilepsy_with_febrile_seizures_plus_3 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRD mondo_mondo_0013103_medgen_c2751603_omim_613060 Epilepsy, idiopathic generalized, susceptibility to, 10 MONDO:MONDO:0013103,MedGen:C2751603,OMIM:613060 3 3 1.0000 condition_record_support_limited 20 0 1 Epilepsy,_idiopathic_generalized,_susceptibility_to,_10 4 low_record_burden_interpretation_limited low_record_burden_gene GABRB3 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 3 3 1.0000 condition_record_support_limited 20 0 2 Epileptic_encephalopathy 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRA1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABBR2 mondo_mondo_0060659_medgen_c4693546_omim_617903 Neurodevelopmental disorder with poor language and loss of hand skills MONDO:MONDO:0060659,MedGen:C4693546,OMIM:617903 3 3 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_poor_language_and_loss_of_hand_skills 15 low_record_burden_interpretation_limited low_record_burden_gene FZD5 human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Congenital ocular coloboma Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 3 3 1.0000 condition_record_support_limited 20 0 1 Congenital_ocular_coloboma 9 low_record_burden_interpretation_limited low_record_burden_gene FZD2 mondo_mondo_0008123_medgen_c2750355_omim_164745_orphanet_2733_orphanet_93328 Autosomal dominant omodysplasia MONDO:MONDO:0008123,MedGen:C2750355,OMIM:164745,Orphanet:2733,Orphanet:93328 3 3 1.0000 condition_record_support_limited 20 0 2 Autosomal_dominant_omodysplasia 9 low_record_burden_interpretation_limited low_record_burden_gene FZD2 mondo_mondo_0014591_medgen_c4225363_omim_616331_orphanet_3107_orphanet_97360 Autosomal dominant Robinow syndrome 2 MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360 3 3 1.0000 condition_record_support_limited 20 0 2 Autosomal_dominant_Robinow_syndrome_2 9 low_record_burden_interpretation_limited low_record_burden_gene FZD2 mondo_mondo_0024455_medgen_c4551475_omim_180700_orphanet_3107_orphanet_97360 Autosomal dominant Robinow syndrome 1 MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700,Orphanet:3107,Orphanet:97360 3 3 1.0000 condition_record_support_limited 20 0 2 Autosomal_dominant_Robinow_syndrome_1 9 low_record_burden_interpretation_limited low_record_burden_gene FYN ebv_positive_nodal_t_and_nk_cell_lymphoma EBV-positive nodal T- and NK-cell lymphoma . 3 3 1.0000 condition_record_support_limited 20 0 0 EBV-positive_nodal_T-_and_NK-cell_lymphoma 3 low_record_burden_interpretation_limited low_record_burden_gene FUT1 medgen_c1859411 Para-Bombay phenotype MedGen:C1859411 3 3 1.0000 condition_record_support_limited 20 0 0 Para-Bombay_phenotype 6 low_record_burden_interpretation_limited low_record_burden_gene FTSJ1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene FTL ftl_related_disorder FTL-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 FTL-related_disorder 31 compact_adjacent_exon_block_opportunity local_compact_architecture FTH1 mondo_mondo_0958012_medgen_c5882740_omim_620669 Neurodegeneration with brain iron accumulation 9 MONDO:MONDO:0958012,MedGen:C5882740,OMIM:620669 3 3 1.0000 condition_record_support_limited 20 0 1 Neurodegeneration_with_brain_iron_accumulation_9 11 low_record_burden_interpretation_limited low_record_burden_gene FTCD ftcd_related_disorder FTCD-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 FTCD-related_disorder 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FSHR condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FSCN2 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 3 low_record_burden_interpretation_limited low_record_burden_gene FRMD4A mondo_mondo_0014787_medgen_c4225193_omim_616819_orphanet_466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome MONDO:MONDO:0014787,MedGen:C4225193,OMIM:616819,Orphanet:466688 3 3 1.0000 condition_record_support_limited 20 0 0 Severe_intellectual_disability-corpus_callosum_agenesis-facial_dysmorphism-cerebellar_ataxia_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene FRAS1 human_phenotype_ontology_hp_0000104_human_phenotype_ontology_hp_0000785_human_phenotype_ontology_hp_0004745_human_phenotype_ontology_hp_0008680_mondo_mondo_0018470_medgen_c0542519_omim_ps191830_orphanet_411709 Renal agenesis Human_Phenotype_Ontology:HP:0000104,Human_Phenotype_Ontology:HP:0000785,Human_Phenotype_Ontology:HP:0004745,Human_Phenotype_Ontology:HP:0008680,MONDO:MONDO:0018470,MedGen:C0542519,OMIM:PS191830,Orphanet:411709 3 3 1.0000 condition_record_support_limited 20 0 0 Renal_agenesis 315 large_gene_or_donor_burden_stress_case donor_burden_stress FRAS1 mondo_mondo_0009046_medgen_c0265233_omim_ps219000_orphanet_2052 Cryptophthalmos syndrome MONDO:MONDO:0009046,MedGen:C0265233,OMIM:PS219000,Orphanet:2052 3 3 1.0000 condition_record_support_limited 20 0 2 Cryptophthalmos_syndrome 315 large_gene_or_donor_burden_stress_case donor_burden_stress FRAS1 mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 3 3 1.0000 condition_record_support_limited 20 0 2 Congenital_anomaly_of_kidney_and_urinary_tract 315 large_gene_or_donor_burden_stress_case donor_burden_stress FRA10AC1 condition_not_provided condition not provided .|MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 See_cases|not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene FOXP1 foxp1_related_disorder FOXP1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 FOXP1-related_disorder 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXL2 foxl2_related_disorder FOXL2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 FOXL2-related_disorder 174 single_exon_hotspot_opportunity local_compact_architecture FOXI1 mondo_mondo_0010933_medgen_c3538946_omim_600791_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 4 MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636 3 3 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_nonsyndromic_hearing_loss_4 5 low_record_burden_interpretation_limited low_record_burden_gene FOXE3 mondo_mondo_0013067_medgen_c2751822_omim_612968_orphanet_91492 Cataract 34 multiple types MONDO:MONDO:0013067,MedGen:C2751822,OMIM:612968,Orphanet:91492 3 3 1.0000 condition_record_support_limited 20 0 0 Cataract_34_multiple_types 33 single_exon_hotspot_opportunity local_compact_architecture FOXC1 mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 3 3 1.0000 condition_record_support_limited 20 0 0 Congenital_anomaly_of_kidney_and_urinary_tract 150 single_exon_hotspot_opportunity local_compact_architecture FMO3 fmo3_related_disorder FMO3-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 FMO3-related_disorder 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLVCR1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy 59 compact_adjacent_exon_block_opportunity local_compact_architecture FLVCR1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 59 compact_adjacent_exon_block_opportunity local_compact_architecture FLT3 human_phenotype_ontology_hp_0004803_human_phenotype_ontology_hp_0005555_human_phenotype_ontology_hp_0006721_mondo_mondo_0004967_medgen_c0023449_omim_613065_orphanet_513 Acute lymphoid leukemia Human_Phenotype_Ontology:HP:0004803,Human_Phenotype_Ontology:HP:0005555,Human_Phenotype_Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513 3 3 1.0000 condition_record_support_limited 20 0 2 Acute_lymphoid_leukemia 12 low_record_burden_interpretation_limited low_record_burden_gene FLNC efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 3 3 1.0000 condition_record_support_limited 20 0 0 Primary_dilated_cardiomyopathy 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLII mondo_mondo_0957984_medgen_c5882725_omim_620635 Cardiomyopathy, dilated, 2j MONDO:MONDO:0957984,MedGen:C5882725,OMIM:620635 3 3 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy,_dilated,_2j 3 low_record_burden_interpretation_limited low_record_burden_gene FLG2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene FLG medgen_c2675432 Dermatitis, atopic, 2, susceptibility to MedGen:C2675432 3 3 1.0000 condition_record_support_limited 20 0 3 Dermatitis,_atopic,_2,_susceptibility_to 246 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FKTN fktn_related_disorder FKTN-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 FKTN-related_disorder 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP medgen_c4016970 Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5 MedGen:C4016970 3 3 1.0000 condition_record_support_limited 20 0 3 Muscular_dystrophy-dystroglycanopathy_(congenital_without_impaired_intellectual_development),_type_B,_5 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKBP14 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 3 3 1.0000 condition_record_support_limited 20 0 2 Cardiovascular_phenotype 20 compact_adjacent_exon_block_opportunity local_compact_architecture FKBP10 mondo_mondo_0009804_medgen_c0268362_omim_259420_orphanet_216812_orphanet_666 Osteogenesis imperfecta type III MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420,Orphanet:216812,Orphanet:666 3 3 1.0000 condition_record_support_limited 20 0 0 Osteogenesis_imperfecta_type_III 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FITM2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene FIG4 human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Amyotrophic lateral sclerosis Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 3 3 1.0000 condition_record_support_limited 20 0 3 Amyotrophic_lateral_sclerosis 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FHOD3 mondo_mondo_0030317_medgen_c5543616_omim_619402 Cardiomyopathy, familial hypertrophic, 28 MONDO:MONDO:0030317,MedGen:C5543616,OMIM:619402 3 3 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy,_familial_hypertrophic,_28 5 low_record_burden_interpretation_limited low_record_burden_gene FHL1 mondo_mondo_0010292_medgen_c1846010_omim_300280 Uruguay Faciocardiomusculoskeletal syndrome MONDO:MONDO:0010292,MedGen:C1846010,OMIM:300280 3 3 1.0000 condition_record_support_limited 20 0 2 Uruguay_Faciocardiomusculoskeletal_syndrome 101 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FHL1 mondo_mondo_0800318_medgen_c2749106 Emery-Dreifuss muscular dystrophy 6 MONDO:MONDO:0800318,MedGen:C2749106 3 3 1.0000 condition_record_support_limited 20 0 1 Emery-Dreifuss_muscular_dystrophy_6 101 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGG fgg_related_disorder FGG-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 FGG-related_disorder 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 mondo_mondo_0017042_medgen_c0039743_orphanet_2655 Thanatophoric dysplasia MONDO:MONDO:0017042,MedGen:C0039743,Orphanet:2655 3 3 1.0000 condition_record_support_limited 20 0 3 Thanatophoric_dysplasia 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGF5 mondo_mondo_0008593_medgen_c0854699_omim_190330 Trichomegaly MONDO:MONDO:0008593,MedGen:C0854699,OMIM:190330 3 3 1.0000 condition_record_support_limited 20 0 0 Trichomegaly 3 low_record_burden_interpretation_limited low_record_burden_gene FGF16 mondo_mondo_0010669_medgen_c1839728_omim_309630_orphanet_2498 Syndactyly type 8 MONDO:MONDO:0010669,MedGen:C1839728,OMIM:309630,Orphanet:2498 3 3 1.0000 condition_record_support_limited 20 0 1 Syndactyly_type_8 4 low_record_burden_interpretation_limited low_record_burden_gene FGF12 mondo_mondo_0014949_medgen_c4310685_omim_617166 Developmental and epileptic encephalopathy, 47 MONDO:MONDO:0014949,MedGen:C4310685,OMIM:617166 3 3 1.0000 condition_record_support_limited 20 0 2 Developmental_and_epileptic_encephalopathy,_47 5 low_record_burden_interpretation_limited low_record_burden_gene FERMT1 fermt1_related_disorder FERMT1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 FERMT1-related_disorder 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FDPS mondo_mondo_0014713_medgen_c4225262_omim_616631_orphanet_79152 Porokeratosis 9, multiple types MONDO:MONDO:0014713,MedGen:C4225262,OMIM:616631,Orphanet:79152 3 3 1.0000 condition_record_support_limited 20 0 0 Porokeratosis_9,_multiple_types 4 low_record_burden_interpretation_limited low_record_burden_gene FDFT1 mondo_mondo_0032566_medgen_c4748427_omim_618156 Squalene synthase deficiency MONDO:MONDO:0032566,MedGen:C4748427,OMIM:618156 3 3 1.0000 condition_record_support_limited 20 0 0 Squalene_synthase_deficiency 3 low_record_burden_interpretation_limited low_record_burden_gene FBXW7 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXW11 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene FBXO43 mondo_mondo_0030523_medgen_c5562063_omim_619697 Oocyte maturation defect 12 MONDO:MONDO:0030523,MedGen:C5562063,OMIM:619697 3 3 1.0000 condition_record_support_limited 20 0 1 Oocyte_maturation_defect_12 4 low_record_burden_interpretation_limited low_record_burden_gene FBXO31 mondo_mondo_0014430_medgen_c4014864_omim_615979_orphanet_88616 Intellectual disability, autosomal recessive 45 MONDO:MONDO:0014430,MedGen:C4014864,OMIM:615979,Orphanet:88616 3 3 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_autosomal_recessive_45 3 low_record_burden_interpretation_limited low_record_burden_gene FBXL5 human_phenotype_ontology_hp_0006034_human_phenotype_ontology_hp_0006046_human_phenotype_ontology_hp_0006123_human_phenotype_ontology_hp_0009605_human_phenotype_ontology_hp_0010442_mondo_mondo_0021003_medgen_c0152427_omim_603596 Polydactyly Human_Phenotype_Ontology:HP:0006034,Human_Phenotype_Ontology:HP:0006046,Human_Phenotype_Ontology:HP:0006123,Human_Phenotype_Ontology:HP:0009605,Human_Phenotype_Ontology:HP:0010442,MONDO:MONDO:0021003,MedGen:C0152427,OMIM:603596 3 3 1.0000 condition_record_support_limited 20 0 3 Polydactyly 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBN1 human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 3 3 1.0000 condition_record_support_limited 20 0 3 Scoliosis 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0001634_mondo_mondo_0004910_medgen_c0026267 Mitral valve prolapse Human_Phenotype_Ontology:HP:0001634,MONDO:MONDO:0004910,MedGen:C0026267 3 3 1.0000 condition_record_support_limited 20 0 3 Mitral_valve_prolapse 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0000156_human_phenotype_ontology_hp_0000218_human_phenotype_ontology_hp_0009080_human_phenotype_ontology_hp_0009082_human_phenotype_ontology_hp_0009097_medgen_c0240635 High palate Human_Phenotype_Ontology:HP:0000156,Human_Phenotype_Ontology:HP:0000218,Human_Phenotype_Ontology:HP:0009080,Human_Phenotype_Ontology:HP:0009082,Human_Phenotype_Ontology:HP:0009097,MedGen:C0240635 3 3 1.0000 condition_record_support_limited 20 0 3 High_palate 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0002616_human_phenotype_ontology_hp_0002631_human_phenotype_ontology_hp_0004750_human_phenotype_ontology_hp_0005125_medgen_c1298820 Aortic root aneurysm Human_Phenotype_Ontology:HP:0002616,Human_Phenotype_Ontology:HP:0002631,Human_Phenotype_Ontology:HP:0004750,Human_Phenotype_Ontology:HP:0005125,MedGen:C1298820 3 3 1.0000 condition_record_support_limited 20 0 3 Aortic_root_aneurysm 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0002647_medgen_c0340643 Aortic dissection Human_Phenotype_Ontology:HP:0002647,MedGen:C0340643 3 3 1.0000 condition_record_support_limited 20 0 3 Aortic_dissection 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0003549_medgen_c4025596 Abnormality of connective tissue Human_Phenotype_Ontology:HP:0003549,MedGen:C4025596 3 3 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_connective_tissue 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBLN5 mondo_mondo_0009052_medgen_c5848058_omim_219100_orphanet_90349 Cutis laxa, autosomal recessive, type 1A MONDO:MONDO:0009052,MedGen:C5848058,OMIM:219100,Orphanet:90349 3 3 1.0000 condition_record_support_limited 20 0 1 Cutis_laxa,_autosomal_recessive,_type_1A 7 low_record_burden_interpretation_limited low_record_burden_gene FBLN5 mondo_mondo_0030689_medgen_c5676926_omim_619764 Charcot-Marie-Tooth disease, demyelinating, IIA 1H MONDO:MONDO:0030689,MedGen:C5676926,OMIM:619764 3 3 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease,_demyelinating,_IIA_1H 7 low_record_burden_interpretation_limited low_record_burden_gene FAT4 fat4_related_disorder FAT4-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 FAT4-related_disorder 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FAT1 fat1_related_disorder FAT1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 FAT1-related_disorder 38 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FASTKD2 mondo_mondo_0700250_medgen_c5435656_omim_220110 Mitochondrial complex IV deficiency, nuclear type 1 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 3 3 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_complex_IV_deficiency,_nuclear_type_1 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FASTKD2 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 3 3 1.0000 condition_record_support_limited 20 0 3 Leigh_syndrome 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAS medgen_c4016044 SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC MedGen:C4016044 3 3 1.0000 condition_record_support_limited 20 0 0 SQUAMOUS_CELL_CARCINOMA,_BURN_SCAR-RELATED,_SOMATIC 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAR1 cataracts_spastic_paraplegia_and_speech_delay CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY . 3 3 1.0000 condition_record_support_limited 20 0 3 CATARACTS,_SPASTIC_PARAPLEGIA,_AND_SPEECH_DELAY 15 low_record_burden_interpretation_limited low_record_burden_gene FANCM mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 3 3 1.0000 condition_record_support_limited 20 0 0 Hereditary_breast_ovarian_cancer_syndrome 201 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FANCM mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 3 3 1.0000 condition_record_support_limited 20 0 2 Familial_cancer_of_breast 201 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FANCF fancf_related_disorder FANCF-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 FANCF-related_disorder 57 single_exon_hotspot_opportunity local_compact_architecture FANCE mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 Fanconi anemia MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 3 3 1.0000 condition_record_support_limited 20 0 2 Fanconi_anemia 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCD2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 279 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAM83H fam83h_related_disorder FAM83H-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 FAM83H-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene FAM50A mondo_mondo_0010284_medgen_c1846057_omim_300261_orphanet_85276 Armfield syndrome MONDO:MONDO:0010284,MedGen:C1846057,OMIM:300261,Orphanet:85276 3 3 1.0000 condition_record_support_limited 20 0 3 Armfield_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene FAM161A medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 3 3 1.0000 condition_record_support_limited 20 0 3 Autosomal_recessive_retinitis_pigmentosa 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FA2H mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 3 3 1.0000 condition_record_support_limited 20 0 2 Hereditary_spastic_paraplegia 63 compact_adjacent_exon_block_opportunity local_compact_architecture F8 mondo_mondo_0015719_medgen_c0272322_orphanet_169802 Severe hemophilia A MONDO:MONDO:0015719,MedGen:C0272322,Orphanet:169802 3 3 1.0000 condition_record_support_limited 20 0 1 Severe_hemophilia_A 641 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture F8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 641 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture F7 human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 3 3 1.0000 condition_record_support_limited 20 0 3 Abnormal_bleeding 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F2 human_phenotype_ontology_hp_0008151_medgen_c0853225 Prolonged prothrombin time Human_Phenotype_Ontology:HP:0008151,MedGen:C0853225 3 3 1.0000 condition_record_support_limited 20 0 1 Prolonged_prothrombin_time 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F2 mondo_mondo_0013728_medgen_c3280672_omim_614390 Pregnancy loss, recurrent, susceptibility to, 2 MONDO:MONDO:0013728,MedGen:C3280672,OMIM:614390 3 3 1.0000 condition_record_support_limited 20 0 3 Pregnancy_loss,_recurrent,_susceptibility_to,_2 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F2 human_phenotype_ontology_hp_0002140_mondo_mondo_1060198_medgen_c0948008_omim_601367 Ischemic stroke Human_Phenotype_Ontology:HP:0002140,MONDO:MONDO:1060198,MedGen:C0948008,OMIM:601367 3 3 1.0000 condition_record_support_limited 20 0 3 Ischemic_stroke 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F13B condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene F10 f10_related_disorder F10-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 F10-related_disorder 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EZH1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene EYA4 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 3 3 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA4 eya4_related_disorder EYA4-related disorder MedGen:CN239388 3 3 1.0000 condition_record_support_limited 20 0 3 EYA4-related_disorder 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA4 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 3 3 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXT2 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 3 3 1.0000 condition_record_support_limited 20 0 1 Ovarian_cancer 221 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EVC2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETV6 human_phenotype_ontology_hp_0004377_mesh_d019337_medgen_c0376545 Hematologic neoplasm Human_Phenotype_Ontology:HP:0004377,MeSH:D019337,MedGen:C0376545 3 3 1.0000 condition_record_support_limited 20 0 3 Hematologic_neoplasm 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETV6 human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Acute myeloid leukemia Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 3 3 1.0000 condition_record_support_limited 20 0 1 Acute_myeloid_leukemia 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETFB condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETFA mondo_mondo_0700073_medgen_c3278154 Glutaric acidemia IIa MONDO:MONDO:0700073,MedGen:C3278154 3 3 1.0000 condition_record_support_limited 20 0 3 Glutaric_acidemia_IIa 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ESPN deafness_without_vestibular_involvement_autosomal_dominant Deafness, without vestibular involvement, autosomal dominant MedGen:CN068820 3 3 1.0000 condition_record_support_limited 20 0 1 Deafness,_without_vestibular_involvement,_autosomal_dominant 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ESCO2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERLIN2 mondo_mondo_0700309_medgen_cn380649_omim_611225 Spastic paraplegia 18b, autosomal recessive MONDO:MONDO:0700309,MedGen:CN380649,OMIM:611225 3 3 1.0000 condition_record_support_limited 20 0 0 Spastic_paraplegia_18b,_autosomal_recessive 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERLIN2 mondo_mondo_0957788_medgen_c5882694_omim_620512 Spastic paraplegia 18a, autosomal dominant MONDO:MONDO:0957788,MedGen:C5882694,OMIM:620512 3 3 1.0000 condition_record_support_limited 20 0 2 Spastic_paraplegia_18a,_autosomal_dominant 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERLIN2 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 3 3 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERLIN1 mondo_mondo_0014302_medgen_c4284588_omim_615681_orphanet_401785 Hereditary spastic paraplegia 62 MONDO:MONDO:0014302,MedGen:C4284588,OMIM:615681,Orphanet:401785 3 3 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia_62 5 low_record_burden_interpretation_limited low_record_burden_gene ERI1 condition_not_provided condition not provided .|MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 See_cases|not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene ERG mondo_mondo_0957954_medgen_c5882718_omim_620602 Lymphatic malformation 14 MONDO:MONDO:0957954,MedGen:C5882718,OMIM:620602 3 3 1.0000 condition_record_support_limited 20 0 0 Lymphatic_malformation_14 3 low_record_burden_interpretation_limited low_record_burden_gene ERCC5 ercc5_related_disorder ERCC5-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 ERCC5-related_disorder 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC4 mondo_mondo_0800313_medgen_c3806565 Xeroderma pigmentosum, type F/Cockayne syndrome MONDO:MONDO:0800313,MedGen:C3806565 3 3 1.0000 condition_record_support_limited 20 0 3 Xeroderma_pigmentosum,_type_F/Cockayne_syndrome 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC3 ercc3_related_disorder ERCC3-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 ERCC3-related_disorder 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERBB3 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERBB3 mondo_mondo_0007573_medgen_c5552985_omim_133180_orphanet_318 Erythroleukemia, familial, susceptibility to MONDO:MONDO:0007573,MedGen:C5552985,OMIM:133180,Orphanet:318 3 3 1.0000 condition_record_support_limited 20 0 3 Erythroleukemia,_familial,_susceptibility_to 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERBB3 erbb3_related_disorder ERBB3-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 ERBB3-related_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPOR condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene EPOR mondo_mondo_0007572_medgen_c4551637_omim_133100_orphanet_90042 Primary familial polycythemia due to EPO receptor mutation MONDO:MONDO:0007572,MedGen:C4551637,OMIM:133100,Orphanet:90042 3 3 1.0000 condition_record_support_limited 20 0 2 Primary_familial_polycythemia_due_to_EPO_receptor_mutation 5 low_record_burden_interpretation_limited low_record_burden_gene EPHB4 mondo_mondo_0012016_medgen_c1842180_omim_ps608354_orphanet_137667 Capillary malformation-arteriovenous malformation syndrome MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667 3 3 1.0000 condition_record_support_limited 20 0 1 Capillary_malformation-arteriovenous_malformation_syndrome 135 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPHA2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene EPG5 neurodevelopmental_disorder_with_parkinsonism_or_other_movement_abnormalities NEURODEVELOPMENTAL DISORDER WITH PARKINSONISM OR OTHER MOVEMENT ABNORMALITIES MedGen:CN380875,OMIM:621506 3 3 1.0000 condition_record_support_limited 20 0 0 NEURODEVELOPMENTAL_DISORDER_WITH_PARKINSONISM_OR_OTHER_MOVEMENT_ABNORMALITIES 213 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EPAS1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene EP300 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 3 3 1.0000 condition_record_support_limited 20 0 1 Microcephaly 264 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EP300 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 264 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EOGT condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene ENO3 mondo_mondo_0013046_medgen_c2752027_omim_612932_orphanet_99849 Glycogen storage disease due to muscle beta-enolase deficiency MONDO:MONDO:0013046,MedGen:C2752027,OMIM:612932,Orphanet:99849 3 3 1.0000 condition_record_support_limited 20 0 0 Glycogen_storage_disease_due_to_muscle_beta-enolase_deficiency 4 low_record_burden_interpretation_limited low_record_burden_gene ENG human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Pulmonary arterial hypertension Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 3 3 1.0000 condition_record_support_limited 20 0 1 Pulmonary_arterial_hypertension 607 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENAM enam_related_disorder ENAM-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 ENAM-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene EMP2 mondo_mondo_0014373_medgen_c4014507_omim_615861 Nephrotic syndrome, type 10 MONDO:MONDO:0014373,MedGen:C4014507,OMIM:615861 3 3 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome,_type_10 3 low_record_burden_interpretation_limited low_record_burden_gene EME2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene EMD mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 Neuromuscular disease MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 3 3 1.0000 condition_record_support_limited 20 0 3 Neuromuscular_disease 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EMC1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EMC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELP2 human_phenotype_ontology_hp_0002187_medgen_c3161330 Profound intellectual disability Human_Phenotype_Ontology:HP:0002187,MedGen:C3161330 3 3 1.0000 condition_record_support_limited 20 0 1 Profound_intellectual_disability 17 low_record_burden_interpretation_limited low_record_burden_gene ELP1 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 3 3 1.0000 condition_record_support_limited 20 0 3 Charcot-Marie-Tooth_disease 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELOVL4 mondo_mondo_0007574_medgen_c1851481_omim_133190_orphanet_1955 Spinocerebellar ataxia type 34 MONDO:MONDO:0007574,MedGen:C1851481,OMIM:133190,Orphanet:1955 3 3 1.0000 condition_record_support_limited 20 0 3 Spinocerebellar_ataxia_type_34 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELN mondo_mondo_0008678_medgen_c0175702_omim_194050_orphanet_904 Williams syndrome MONDO:MONDO:0008678,MedGen:C0175702,OMIM:194050,Orphanet:904 3 3 1.0000 condition_record_support_limited 20 0 2 Williams_syndrome 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELN mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELF4 mondo_mondo_0024770_medgen_c5575495_omim_301074_orphanet_676125 Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 MONDO:MONDO:0024770,MedGen:C5575495,OMIM:301074,Orphanet:676125 3 3 1.0000 condition_record_support_limited 20 0 0 Autoinflammatory_syndrome,_familial,_X-linked,_Behcet-like_2 8 low_record_burden_interpretation_limited low_record_burden_gene ELANE mondo_mondo_0019751_medgen_c3890737_orphanet_93665 Autoinflammatory syndrome MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 3 3 1.0000 condition_record_support_limited 20 0 1 Autoinflammatory_syndrome 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2B5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2AK4 human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Pulmonary arterial hypertension Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 3 3 1.0000 condition_record_support_limited 20 0 1 Pulmonary_arterial_hypertension 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2AK4 eif2ak4_related_disorder EIF2AK4-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 EIF2AK4-related_disorder 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFL1 mondo_mondo_0009833_medgen_c0272170_omim_ps260400_orphanet_811 Shwachman syndrome MONDO:MONDO:0009833,MedGen:C0272170,OMIM:PS260400,Orphanet:811 3 3 1.0000 condition_record_support_limited 20 0 3 Shwachman_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene EFEMP2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 3 3 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFEMP1 human_phenotype_ontology_hp_0001087_mondo_mondo_0020367_medgen_c2981140_orphanet_98977 Glaucoma of childhood Human_Phenotype_Ontology:HP:0001087,MONDO:MONDO:0020367,MedGen:C2981140,Orphanet:98977 3 3 1.0000 condition_record_support_limited 20 0 2 Glaucoma_of_childhood 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 mondo_mondo_0958335_medgen_c5935602_omim_620780 Cutis laxa, autosomal recessive, type 1d MONDO:MONDO:0958335,MedGen:C5935602,OMIM:620780 3 3 1.0000 condition_record_support_limited 20 0 3 Cutis_laxa,_autosomal_recessive,_type_1d 14 low_record_burden_interpretation_limited low_record_burden_gene EEFSEC mondo_mondo_0976233_medgen_c6012700_omim_621102 Neurodevelopmental disorder with progressive spasticity and brain abnormalities MONDO:MONDO:0976233,MedGen:C6012700,OMIM:621102 3 3 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_progressive_spasticity_and_brain_abnormalities 4 low_record_burden_interpretation_limited low_record_burden_gene EDNRB ednrb_related_disorder EDNRB-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 EDNRB-related_disorder 41 compact_adjacent_exon_block_opportunity local_compact_architecture EDA human_phenotype_ontology_hp_0000968_human_phenotype_ontology_hp_0007436_human_phenotype_ontology_hp_0007615_mondo_mondo_0019287_medgen_c0013575_omim_ps305100_orphanet_79373 Ectodermal dysplasia Human_Phenotype_Ontology:HP:0000968,Human_Phenotype_Ontology:HP:0007436,Human_Phenotype_Ontology:HP:0007615,MONDO:MONDO:0019287,MedGen:C0013575,OMIM:PS305100,Orphanet:79373 3 3 1.0000 condition_record_support_limited 20 0 3 Ectodermal_dysplasia 276 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ECM1 ecm1_related_disorder ECM1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 ECM1-related_disorder 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ECHS1 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 3 3 1.0000 condition_record_support_limited 20 0 3 Leigh_syndrome 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ECHS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ECHDC1 mondo_mondo_0008722_medgen_c0342783_omim_201470_orphanet_26792 Deficiency of butyryl-CoA dehydrogenase MONDO:MONDO:0008722,MedGen:C0342783,OMIM:201470,Orphanet:26792 3 3 1.0000 condition_record_support_limited 20 0 0 Deficiency_of_butyryl-CoA_dehydrogenase 3 low_record_burden_interpretation_limited low_record_burden_gene EBF3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBF3 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 3 3 1.0000 condition_record_support_limited 20 0 3 Global_developmental_delay 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBF3 ebf3_related_disorder EBF3-related disorder MedGen:CN239924 3 3 1.0000 condition_record_support_limited 20 0 1 EBF3-related_disorder 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DZIP1L dzip1l_related_disorder DZIP1L-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 DZIP1L-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene DYRK1A human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 3 3 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYRK1A dyrk1a_related_disorder DYRK1A-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 DYRK1A-related_disorder 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC2I2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC2I2 mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 Jeune thoracic dystrophy MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 3 3 1.0000 condition_record_support_limited 20 0 1 Jeune_thoracic_dystrophy 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC1H1 mondo_mondo_0018190_medgen_c1834690_omim_ps158600_orphanet_363447 Spinal muscular atrophy with lower extremity predominance MONDO:MONDO:0018190,MedGen:C1834690,OMIM:PS158600,Orphanet:363447 3 3 1.0000 condition_record_support_limited 20 0 3 Spinal_muscular_atrophy_with_lower_extremity_predominance 176 large_gene_or_donor_burden_stress_case donor_burden_stress DYM dym_related_disorder DYM-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 DYM-related_disorder 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DUOXA2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 27 compact_adjacent_exon_block_opportunity local_compact_architecture DUOX2 nongoitrous_euthyroid_hyperthyrotropinemia Nongoitrous Euthyroid Hyperthyrotropinemia . 3 3 1.0000 condition_record_support_limited 20 0 3 Nongoitrous_Euthyroid_Hyperthyrotropinemia 239 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DTNBP1 dtnbp1_related_disorder DTNBP1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 DTNBP1-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene DSPP human_phenotype_ontology_hp_0000703_mondo_mondo_0018849_medgen_c0011436_orphanet_49042 Dentinogenesis imperfecta Human_Phenotype_Ontology:HP:0000703,MONDO:MONDO:0018849,MedGen:C0011436,Orphanet:49042 3 3 1.0000 condition_record_support_limited 20 0 0 Dentinogenesis_imperfecta 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSPP dentin_dysplasia_type_ii_dtdp2 Dentin dysplasia, Type II; DTDP2 . 3 3 1.0000 condition_record_support_limited 20 0 2 Dentin_dysplasia,_Type_II%3B_DTDP2 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSPP dspp_related_disorder DSPP-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 DSPP-related_disorder 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSP mondo_mondo_0012180_medgen_c1836906_omim_609040 Arrhythmogenic right ventricular dysplasia 9 MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040 3 3 1.0000 condition_record_support_limited 20 0 3 Arrhythmogenic_right_ventricular_dysplasia_9 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSG4 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene DSCAM mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 6 low_record_burden_interpretation_limited low_record_burden_gene DSC3 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene DPYD dpyd_related_disorder DPYD-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 DPYD-related_disorder 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DPP9 mondo_mondo_0957229_medgen_c5830439_omim_620331 Hatipoglu immunodeficiency syndrome MONDO:MONDO:0957229,MedGen:C5830439,OMIM:620331 3 3 1.0000 condition_record_support_limited 20 0 0 Hatipoglu_immunodeficiency_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene DPH5 mondo_mondo_0859295_medgen_c5774228_omim_620070 Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties MONDO:MONDO:0859295,MedGen:C5774228,OMIM:620070 3 3 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_short_stature,_prominent_forehead,_and_feeding_difficulties 3 low_record_burden_interpretation_limited low_record_burden_gene DPH2 mondo_mondo_0100217_medgen_c5774223_omim_620062 Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 MONDO:MONDO:0100217,MedGen:C5774223,OMIM:620062 3 3 1.0000 condition_record_support_limited 20 0 1 Developmental_delay_with_short_stature,_dysmorphic_facial_features,_and_sparse_hair_2 3 low_record_burden_interpretation_limited low_record_burden_gene DPH1 mondo_mondo_0031632_medgen_c4310801_omim_ps616901_orphanet_459061 Developmental delay with short stature, dysmorphic facial features, and sparse hair MONDO:MONDO:0031632,MedGen:C4310801,OMIM:PS616901,Orphanet:459061 3 3 1.0000 condition_record_support_limited 20 0 1 Developmental_delay_with_short_stature,_dysmorphic_facial_features,_and_sparse_hair 14 low_record_burden_interpretation_limited low_record_burden_gene DPF2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 17 low_record_burden_interpretation_limited low_record_burden_gene DONSON donson_related_disorder DONSON-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 DONSON-related_disorder 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOLK condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene DOK7 mondo_mondo_0010499_medgen_c4225419_omim_300963_orphanet_7 Ritscher-Schinzel syndrome 2 MONDO:MONDO:0010499,MedGen:C4225419,OMIM:300963,Orphanet:7 3 3 1.0000 condition_record_support_limited 20 0 3 Ritscher-Schinzel_syndrome_2 144 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOK1 mondo_mondo_0030697_medgen_c5676935_omim_619781 Myopia 28, autosomal recessive MONDO:MONDO:0030697,MedGen:C5676935,OMIM:619781 3 3 1.0000 condition_record_support_limited 20 0 0 Myopia_28,_autosomal_recessive 3 low_record_burden_interpretation_limited low_record_burden_gene DOCK8 human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 3 3 1.0000 condition_record_support_limited 20 0 2 Severe_combined_immunodeficiency_disease 120 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DOCK8 dock8_related_disorder DOCK8-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 DOCK8-related_disorder 120 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DOCK7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 111 large_gene_or_donor_burden_stress_case donor_burden_stress DOCK4 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene DNMT3B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT3A mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM2 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 3 3 1.0000 condition_record_support_limited 20 0 2 Charcot-Marie-Tooth_disease 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1L mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 3 3 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_disease 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1L dnm1l_related_disorder DNM1L-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 DNM1L-related_disorder 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1 mondo_mondo_0957248_medgen_c5830459_omim_620352 Developmental and epileptic encephalopathy, 31B MONDO:MONDO:0957248,MedGen:C5830459,OMIM:620352 3 3 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_31B 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNASE2 mondo_mondo_0800132_medgen_c5676977_omim_619858 Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency MONDO:MONDO:0800132,MedGen:C5676977,OMIM:619858 3 3 1.0000 condition_record_support_limited 20 0 0 Autoinflammatory-pancytopenia_syndrome_due_to_DNASE2_deficiency 3 low_record_burden_interpretation_limited low_record_burden_gene DNASE1L1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene DNAL1 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 3 3 1.0000 condition_record_support_limited 20 0 1 Primary_ciliary_dyskinesia 10 low_record_burden_interpretation_limited low_record_burden_gene DNAJC9 mondo_mondo_0032902_medgen_c5231493_omim_618763 Joubert syndrome 36 MONDO:MONDO:0032902,MedGen:C5231493,OMIM:618763 3 3 1.0000 condition_record_support_limited 20 0 0 Joubert_syndrome_36 3 low_record_burden_interpretation_limited low_record_burden_gene DNAJB2 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 3 3 1.0000 condition_record_support_limited 20 0 3 Charcot-Marie-Tooth_disease 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJB2 mondo_mondo_0011585_medgen_c1854023_omim_605726_orphanet_139552 Autosomal recessive distal spinal muscular atrophy 2 MONDO:MONDO:0011585,MedGen:C1854023,OMIM:605726,Orphanet:139552 3 3 1.0000 condition_record_support_limited 20 0 3 Autosomal_recessive_distal_spinal_muscular_atrophy_2 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAH8 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 156 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH5 mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 Kartagener syndrome MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 3 3 1.0000 condition_record_support_limited 20 0 3 Kartagener_syndrome 1093 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 1093 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH11 mondo_mondo_0010991_medgen_c1832813_omim_601086_orphanet_450 Laterality defects, autosomal dominant MONDO:MONDO:0010991,MedGen:C1832813,OMIM:601086,Orphanet:450 3 3 1.0000 condition_record_support_limited 20 0 1 Laterality_defects,_autosomal_dominant 574 large_gene_or_donor_burden_stress_case donor_burden_stress DNAAF5 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 50 compact_adjacent_exon_block_opportunity local_compact_architecture DNAAF4 dnaaf4_related_disorder DNAAF4-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 DNAAF4-related_disorder 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF11 dnaaf11_related_disorder DNAAF11-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 DNAAF11-related_disorder 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNA2 mondo_mondo_0014350_medgen_c3891452_omim_615807_orphanet_808 Seckel syndrome 8 MONDO:MONDO:0014350,MedGen:C3891452,OMIM:615807,Orphanet:808 3 3 1.0000 condition_record_support_limited 20 0 2 Seckel_syndrome_8 17 low_record_burden_interpretation_limited low_record_burden_gene DMRT1 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 3 3 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 9 low_record_burden_interpretation_limited low_record_burden_gene DMRT1 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 3 3 1.0000 condition_record_support_limited 20 0 0 Male_infertility 9 low_record_burden_interpretation_limited low_record_burden_gene DMD x_linked_dmd_related_disorders X-linked DMD-related disorders . 3 3 1.0000 condition_record_support_limited 20 0 2 X-linked_DMD-related_disorders 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD medgen_c4016477 Intermediate muscular dystrophy MedGen:C4016477 3 3 1.0000 condition_record_support_limited 20 0 2 Intermediate_muscular_dystrophy 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD medgen_c3542021_orphanet_262 Duchenne and Becker muscular dystrophy MedGen:C3542021,Orphanet:262 3 3 1.0000 condition_record_support_limited 20 0 2 Duchenne_and_Becker_muscular_dystrophy 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 3 3 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD human_phenotype_ontology_hp_0003703_human_phenotype_ontology_hp_0008981_human_phenotype_ontology_hp_0009024_medgen_c1843057 Calf muscle hypertrophy Human_Phenotype_Ontology:HP:0003703,Human_Phenotype_Ontology:HP:0008981,Human_Phenotype_Ontology:HP:0009024,MedGen:C1843057 3 3 1.0000 condition_record_support_limited 20 0 3 Calf_muscle_hypertrophy 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMC1 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 3 3 1.0000 condition_record_support_limited 20 0 0 Non-obstructive_azoospermia 5 low_record_burden_interpretation_limited low_record_burden_gene DLX5 mondo_mondo_0009080_medgen_c1857344_omim_220600_orphanet_71271 Split hand-foot malformation 1 with sensorineural hearing loss MONDO:MONDO:0009080,MedGen:C1857344,OMIM:220600,Orphanet:71271 3 3 1.0000 condition_record_support_limited 20 0 1 Split_hand-foot_malformation_1_with_sensorineural_hearing_loss 9 low_record_burden_interpretation_limited low_record_burden_gene DLL4 dll4_related_disorder DLL4-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 DLL4-related_disorder 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLG4 marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 3 3 1.0000 condition_record_support_limited 20 0 3 Marfanoid_habitus_and_intellectual_disability 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLAT condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene DIABLO mondo_mondo_0013593_medgen_c3279948_omim_614152_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 64 MONDO:MONDO:0013593,MedGen:C3279948,OMIM:614152,Orphanet:90635 3 3 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_nonsyndromic_hearing_loss_64 3 low_record_burden_interpretation_limited low_record_burden_gene DHX37 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 3 3 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 15 low_record_burden_interpretation_limited low_record_burden_gene DHX34 neurodevelopmental_disorders Neurodevelopmental disorders . 3 3 1.0000 condition_record_support_limited 20 0 3 Neurodevelopmental_disorders 3 low_record_burden_interpretation_limited low_record_burden_gene DHX34 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 3 3 1.0000 condition_record_support_limited 20 0 3 Neurodevelopmental_delay 3 low_record_burden_interpretation_limited low_record_burden_gene DHX34 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 3 low_record_burden_interpretation_limited low_record_burden_gene DHX30 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 3 3 1.0000 condition_record_support_limited 20 0 3 Microcephaly 19 low_record_burden_interpretation_limited low_record_burden_gene DHX30 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 19 low_record_burden_interpretation_limited low_record_burden_gene DHX16 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 7 low_record_burden_interpretation_limited low_record_burden_gene DHH differences_in_sex_development Differences in sex development . 3 3 1.0000 condition_record_support_limited 20 0 0 Differences_in_sex_development 19 low_record_burden_interpretation_limited low_record_burden_gene DHDDS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DGUOK mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DGAT1 dgat1_related_disorder DGAT1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 DGAT1-related_disorder 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DES des_related_disorder DES-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 DES-related_disorder 123 compact_adjacent_exon_block_opportunity local_compact_architecture DES human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 3 3 1.0000 condition_record_support_limited 20 0 3 Cardiomyopathy 123 compact_adjacent_exon_block_opportunity local_compact_architecture DEPDC5 mondo_mondo_0007295_medgen_c0376532_orphanet_1945 Self-limited epilepsy with centrotemporal spikes MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 3 3 1.0000 condition_record_support_limited 20 0 1 Self-limited_epilepsy_with_centrotemporal_spikes 382 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DEF6 mondo_mondo_0030457_medgen_c5562070_omim_619573 Immunodeficiency 87 and autoimmunity MONDO:MONDO:0030457,MedGen:C5562070,OMIM:619573 3 3 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_87_and_autoimmunity 9 low_record_burden_interpretation_limited low_record_burden_gene DEAF1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX54 neurodevelopmental_disorders Neurodevelopmental disorders . 3 3 1.0000 condition_record_support_limited 20 0 3 Neurodevelopmental_disorders 3 low_record_burden_interpretation_limited low_record_burden_gene DDX54 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 3 3 1.0000 condition_record_support_limited 20 0 3 Neurodevelopmental_delay 3 low_record_burden_interpretation_limited low_record_burden_gene DDX54 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 3 low_record_burden_interpretation_limited low_record_burden_gene DDX41 human_phenotype_ontology_hp_0002863_human_phenotype_ontology_hp_0004832_human_phenotype_ontology_hp_0006730_medgen_c0026985 Myelodysplasia Human_Phenotype_Ontology:HP:0002863,Human_Phenotype_Ontology:HP:0004832,Human_Phenotype_Ontology:HP:0006730,MedGen:C0026985 3 3 1.0000 condition_record_support_limited 20 0 3 Myelodysplasia 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX3X medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 3 3 1.0000 condition_record_support_limited 20 0 2 Rare_genetic_intellectual_disability 366 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX3X mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 366 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX23 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene DDX17 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene DDOST mondo_mondo_0013789_medgen_c3281084_omim_614507_orphanet_300536 Congenital disorder of glycosylation type Ir MONDO:MONDO:0013789,MedGen:C3281084,OMIM:614507,Orphanet:300536 3 3 1.0000 condition_record_support_limited 20 0 2 Congenital_disorder_of_glycosylation_type_Ir 3 low_record_burden_interpretation_limited low_record_burden_gene DCX human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Lissencephaly Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 3 3 1.0000 condition_record_support_limited 20 0 2 Lissencephaly 165 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCT human_phenotype_ontology_hp_0001022_mondo_mondo_0043209_medgen_c0001916 Albinism Human_Phenotype_Ontology:HP:0001022,MONDO:MONDO:0043209,MedGen:C0001916 3 3 1.0000 condition_record_support_limited 20 0 3 Albinism 11 low_record_burden_interpretation_limited low_record_burden_gene DCLRE1B mondo_mondo_0859319_medgen_c5774257_omim_620133 Dyskeratosis congenita, autosomal recessive 8 MONDO:MONDO:0859319,MedGen:C5774257,OMIM:620133 3 3 1.0000 condition_record_support_limited 20 0 0 Dyskeratosis_congenita,_autosomal_recessive_8 6 low_record_burden_interpretation_limited low_record_burden_gene DCC dcc_related_disorder DCC-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 DCC-related_disorder 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCAF17 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DBT dbt_related_disorder DBT-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 DBT-related_disorder 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DBNL condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene CYP7B1 mondo_mondo_1010178_medgen_cn380413_omim_214800 CHD7-related CHARGE syndrome MONDO:MONDO:1010178,MedGen:CN380413,OMIM:214800 3 3 1.0000 condition_record_support_limited 20 0 3 CHD7-related_CHARGE_syndrome 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP2U1 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 3 3 1.0000 condition_record_support_limited 20 0 2 Hereditary_spastic_paraplegia 51 compact_adjacent_exon_block_opportunity local_compact_architecture CYP2U1 cyp2u1_related_disorder CYP2U1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 CYP2U1-related_disorder 51 compact_adjacent_exon_block_opportunity local_compact_architecture CYP2R1 cyp2r1_related_disorder CYP2R1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 CYP2R1-related_disorder 30 compact_adjacent_exon_block_opportunity local_compact_architecture CYP27B1 cyp27b1_related_disorder CYP27B1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 CYP27B1-related_disorder 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP1B1 human_phenotype_ontology_hp_0000659_mondo_mondo_0011414_medgen_c0344559_omim_604229_orphanet_708 Irido-corneo-trabecular dysgenesis Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708 3 3 1.0000 condition_record_support_limited 20 0 3 Irido-corneo-trabecular_dysgenesis 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP17A1 differences_in_sex_development Differences in sex development . 3 3 1.0000 condition_record_support_limited 20 0 3 Differences_in_sex_development 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP11A1 medgen_c2936858_omim_201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY MedGen:C2936858,OMIM:201910 3 3 1.0000 condition_record_support_limited 20 0 2 ADRENAL_HYPERPLASIA,_CONGENITAL,_DUE_TO_21-HYDROXYLASE_DEFICIENCY 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYLD mondo_mondo_0042977_medgen_cn296585_omim_601606 Trichoepithelioma, multiple familial, 1 MONDO:MONDO:0042977,MedGen:CN296585,OMIM:601606 3 3 1.0000 condition_record_support_limited 20 0 3 Trichoepithelioma,_multiple_familial,_1 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYB5A mondo_mondo_0009605_medgen_c4285231_omim_250790_orphanet_621 Methemoglobinemia type 4 MONDO:MONDO:0009605,MedGen:C4285231,OMIM:250790,Orphanet:621 3 3 1.0000 condition_record_support_limited 20 0 0 Methemoglobinemia_type_4 3 low_record_burden_interpretation_limited low_record_burden_gene CUX2 mondo_mondo_0029138_medgen_c4748341_omim_618141 Developmental and epileptic encephalopathy, 67 MONDO:MONDO:0029138,MedGen:C4748341,OMIM:618141 3 3 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_67 4 low_record_burden_interpretation_limited low_record_burden_gene CUL7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 126 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CUL4B human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUBN mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 206 large_gene_or_donor_burden_stress_case donor_burden_stress CUBN autosomal_recessive_cubn_related_disorders Autosomal recessive CUBN-related disorders . 3 3 1.0000 condition_record_support_limited 20 0 3 Autosomal_recessive_CUBN-related_disorders 206 large_gene_or_donor_burden_stress_case donor_burden_stress CTNS mondo_mondo_0018467_medgen_c3537440_orphanet_411629 Infantile nephropathic cystinosis MONDO:MONDO:0018467,MedGen:C3537440,Orphanet:411629 3 3 1.0000 condition_record_support_limited 20 0 3 Infantile_nephropathic_cystinosis 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNND2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene CTNNB1 human_phenotype_ontology_hp_0002884_mondo_mondo_0018666_medgen_c0206624_orphanet_449 Hepatoblastoma Human_Phenotype_Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624,Orphanet:449 3 3 1.0000 condition_record_support_limited 20 0 3 Hepatoblastoma 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 3 3 1.0000 condition_record_support_limited 20 0 3 Carcinoma_of_colon 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNA3 mondo_mondo_0000908_medgen_c3810138_omim_615616 Arrhythmogenic right ventricular dysplasia 13 MONDO:MONDO:0000908,MedGen:C3810138,OMIM:615616 3 3 1.0000 condition_record_support_limited 20 0 1 Arrhythmogenic_right_ventricular_dysplasia_13 5 low_record_burden_interpretation_limited low_record_burden_gene CTNNA1 mondo_mondo_0042486_medgen_c1832587_omim_601228_orphanet_157794 Polyposis syndrome, hereditary mixed, 1 MONDO:MONDO:0042486,MedGen:C1832587,OMIM:601228,Orphanet:157794 3 3 1.0000 condition_record_support_limited 20 0 1 Polyposis_syndrome,_hereditary_mixed,_1 233 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTLA4 mondo_mondo_0011068_medgen_c1832392_omim_601388 Type 1 diabetes mellitus 12 MONDO:MONDO:0011068,MedGen:C1832392,OMIM:601388 3 3 1.0000 condition_record_support_limited 20 0 3 Type_1_diabetes_mellitus_12 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTLA4 human_phenotype_ontology_hp_0002725_mondo_mondo_0007915_medgen_c0024141_omim_152700_orphanet_536 Systemic lupus erythematosus Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536 3 3 1.0000 condition_record_support_limited 20 0 3 Systemic_lupus_erythematosus 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTLA4 human_phenotype_ontology_hp_0000872_mondo_mondo_0007699_medgen_c0677607_omim_140300 Hashimoto thyroiditis Human_Phenotype_Ontology:HP:0000872,MONDO:MONDO:0007699,MedGen:C0677607,OMIM:140300 3 3 1.0000 condition_record_support_limited 20 0 3 Hashimoto_thyroiditis 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTLA4 mondo_mondo_0012341_medgen_c1857845_omim_609755 Celiac disease, susceptibility to, 3 MONDO:MONDO:0012341,MedGen:C1857845,OMIM:609755 3 3 1.0000 condition_record_support_limited 20 0 3 Celiac_disease,_susceptibility_to,_3 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTCF human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTBP2 human_phenotype_ontology_hp_0004935_medgen_c0265908 Pulmonary artery atresia Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908 3 3 1.0000 condition_record_support_limited 20 0 0 Pulmonary_artery_atresia 3 low_record_burden_interpretation_limited low_record_burden_gene CSTA condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene CSF3R mondo_mondo_0018542_medgen_c1853118_omim_ps202700_orphanet_42738 Severe congenital neutropenia MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738 3 3 1.0000 condition_record_support_limited 20 0 2 Severe_congenital_neutropenia 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSF3R mondo_mondo_0008092_medgen_c0543669_omim_162830_orphanet_279943 Hereditary neutrophilia MONDO:MONDO:0008092,MedGen:C0543669,OMIM:162830,Orphanet:279943 3 3 1.0000 condition_record_support_limited 20 0 2 Hereditary_neutrophilia 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSDE1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 17 low_record_burden_interpretation_limited low_record_burden_gene CRYGC crygc_related_disorder CRYGC-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 CRYGC-related_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRYBB2 human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 3 3 1.0000 condition_record_support_limited 20 0 1 Developmental_cataract 15 low_record_burden_interpretation_limited low_record_burden_gene CRYBA1 cryba1_related_disorder CRYBA1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 CRYBA1-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene CRYAA medgen_c4015986 Cataract 9, multiple types, with microcornea MedGen:C4015986 3 3 1.0000 condition_record_support_limited 20 0 3 Cataract_9,_multiple_types,_with_microcornea 11 low_record_burden_interpretation_limited low_record_burden_gene CRX human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 3 3 1.0000 condition_record_support_limited 20 0 3 Cone-rod_dystrophy 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRX mondo_mondo_0007934_medgen_c5561925_omim_153870_orphanet_251287 Benign concentric annular macular dystrophy MONDO:MONDO:0007934,MedGen:C5561925,OMIM:153870,Orphanet:251287 3 3 1.0000 condition_record_support_limited 20 0 3 Benign_concentric_annular_macular_dystrophy 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRTAP crtap_related_disorder CRTAP-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 CRTAP-related_disorder 66 compact_adjacent_exon_block_opportunity local_compact_architecture CRNKL1 mondo_mondo_0980935_medgen_cn380680_omim_621436 Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia MONDO:MONDO:0980935,MedGen:CN380680,OMIM:621436 3 3 1.0000 condition_record_support_limited 20 0 0 Microcephaly,_progressive,_with_simplified_gyral_pattern_and_cerebellar_hypoplasia 3 low_record_burden_interpretation_limited low_record_burden_gene CRLS1 mondo_mondo_0859337_medgen_c5774275_omim_620167 Combined oxidative phosphorylation deficiency 57 MONDO:MONDO:0859337,MedGen:C5774275,OMIM:620167 3 3 1.0000 condition_record_support_limited 20 0 0 Combined_oxidative_phosphorylation_deficiency_57 3 low_record_burden_interpretation_limited low_record_burden_gene CRB2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRB1 early_onset_retinal_dystrophy Early-onset retinal dystrophy . 3 3 1.0000 condition_record_support_limited 20 0 3 Early-onset_retinal_dystrophy 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRADD condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene CR2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPT2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPT1A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPOX mondo_mondo_0030048_medgen_c0342859_omim_618892_orphanet_659672 Harderoporphyria MONDO:MONDO:0030048,MedGen:C0342859,OMIM:618892,Orphanet:659672 3 3 1.0000 condition_record_support_limited 20 0 2 Harderoporphyria 40 compact_adjacent_exon_block_opportunity local_compact_architecture CPLX1 mondo_mondo_0033372_medgen_c4693810_omim_617976 Developmental and epileptic encephalopathy, 63 MONDO:MONDO:0033372,MedGen:C4693810,OMIM:617976 3 3 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_63 3 low_record_burden_interpretation_limited low_record_burden_gene CPLANE1 human_phenotype_ontology_hp_0000952_medgen_c0022346 Jaundice Human_Phenotype_Ontology:HP:0000952,MedGen:C0022346 3 3 1.0000 condition_record_support_limited 20 0 3 Jaundice 343 large_gene_or_donor_burden_stress_case donor_burden_stress CPA1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene COXFA4 mondo_mondo_0033656_medgen_c5436727_omim_619065 Mitochondrial complex IV deficiency, nuclear type 21 MONDO:MONDO:0033656,MedGen:C5436727,OMIM:619065 3 3 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_IV_deficiency,_nuclear_type_21 4 low_record_burden_interpretation_limited low_record_burden_gene COX7B mondo_mondo_0010474_medgen_c3550921_omim_300887_orphanet_2556 Linear skin defects with multiple congenital anomalies 2 MONDO:MONDO:0010474,MedGen:C3550921,OMIM:300887,Orphanet:2556 3 3 1.0000 condition_record_support_limited 20 0 0 Linear_skin_defects_with_multiple_congenital_anomalies_2 4 low_record_burden_interpretation_limited low_record_burden_gene COX18 mondo_mondo_0980971_medgen_cn380855_omim_621488 Charcot-marie-tooth disease, axonal, type 2MM MONDO:MONDO:0980971,MedGen:CN380855,OMIM:621488 3 3 1.0000 condition_record_support_limited 20 0 0 Charcot-marie-tooth_disease,_axonal,_type_2MM 3 low_record_burden_interpretation_limited low_record_burden_gene COX10 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene COQ8A mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 3 3 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_disease 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ8A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ4 coq4_related_disorder COQ4-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 COQ4-related_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A2 mondo_mondo_0013666_medgen_c3280342_omim_614284_orphanet_250984_orphanet_828 Stickler syndrome, type 5 MONDO:MONDO:0013666,MedGen:C3280342,OMIM:614284,Orphanet:250984,Orphanet:828 3 3 1.0000 condition_record_support_limited 20 0 2 Stickler_syndrome,_type_5 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A2 monogenic_hearing_loss Monogenic hearing loss . 3 3 1.0000 condition_record_support_limited 20 0 0 Monogenic_hearing_loss 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL8A2 mondo_mondo_0007637_medgen_c1850959_omim_136800_orphanet_98974 Corneal dystrophy, Fuchs endothelial, 1 MONDO:MONDO:0007637,MedGen:C1850959,OMIM:136800,Orphanet:98974 3 3 1.0000 condition_record_support_limited 20 0 2 Corneal_dystrophy,_Fuchs_endothelial,_1 3 low_record_burden_interpretation_limited low_record_burden_gene COL7A1 human_phenotype_ontology_hp_0007467_human_phenotype_ontology_hp_0007496_human_phenotype_ontology_hp_0008066_human_phenotype_ontology_hp_0200038_medgen_c2132198 Abnormal blistering of the skin Human_Phenotype_Ontology:HP:0007467,Human_Phenotype_Ontology:HP:0007496,Human_Phenotype_Ontology:HP:0008066,Human_Phenotype_Ontology:HP:0200038,MedGen:C2132198 3 3 1.0000 condition_record_support_limited 20 0 3 Abnormal_blistering_of_the_skin 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL6A2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A1 ullrich_congenital_muscular_dystrophy_1a_autosomal_dominant ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A, AUTOSOMAL DOMINANT . 3 3 1.0000 condition_record_support_limited 20 0 2 ULLRICH_CONGENITAL_MUSCULAR_DYSTROPHY_1A,_AUTOSOMAL_DOMINANT 194 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A1 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 3 3 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_musculature 194 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A6 mondo_mondo_0010484_medgen_c3806737_omim_300914_orphanet_90625 Hearing loss, X-linked 6 MONDO:MONDO:0010484,MedGen:C3806737,OMIM:300914,Orphanet:90625 3 3 1.0000 condition_record_support_limited 20 0 0 Hearing_loss,_X-linked_6 4 low_record_burden_interpretation_limited low_record_burden_gene COL4A5 mondo_mondo_0007086_medgen_c5882663_omim_104200_orphanet_63_orphanet_88918 Autosomal dominant Alport syndrome MONDO:MONDO:0007086,MedGen:C5882663,OMIM:104200,Orphanet:63,Orphanet:88918 3 3 1.0000 condition_record_support_limited 20 0 2 Autosomal_dominant_Alport_syndrome 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A4 disease_of_glomerular_basement_membrane Disease of glomerular basement membrane . 3 3 1.0000 condition_record_support_limited 20 0 1 Disease_of_glomerular_basement_membrane 860 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL4A4 human_phenotype_ontology_hp_0000106_human_phenotype_ontology_hp_0001918_human_phenotype_ontology_hp_0008671_human_phenotype_ontology_hp_0012622_mondo_mondo_0005300_medgen_c1561643 Chronic kidney disease Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643 3 3 1.0000 condition_record_support_limited 20 0 2 Chronic_kidney_disease 860 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL4A2 human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 3 3 1.0000 condition_record_support_limited 20 0 1 Cerebral_palsy 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL2A1 human_phenotype_ontology_hp_0002657_mondo_mondo_0016763_medgen_c4759767_omim_ps184255_orphanet_254 Spondylometaphyseal dysplasia Human_Phenotype_Ontology:HP:0002657,MONDO:MONDO:0016763,MedGen:C4759767,OMIM:PS184255,Orphanet:254 3 3 1.0000 condition_record_support_limited 20 0 3 Spondylometaphyseal_dysplasia 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 col2a1_related_skeletal_dysplasia COL2A1-related skeletal dysplasia . 3 3 1.0000 condition_record_support_limited 20 0 3 COL2A1-related_skeletal_dysplasia 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL27A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 158 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A2 human_phenotype_ontology_hp_0000703_mondo_mondo_0018849_medgen_c0011436_orphanet_49042 Dentinogenesis imperfecta Human_Phenotype_Ontology:HP:0000703,MONDO:MONDO:0018849,MedGen:C0011436,Orphanet:49042 3 3 1.0000 condition_record_support_limited 20 0 3 Dentinogenesis_imperfecta 722 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 Ehlers-Danlos syndrome MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 3 3 1.0000 condition_record_support_limited 20 0 3 Ehlers-Danlos_syndrome 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0000924_medgen_c4021790 Abnormality of the skeletal system Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 3 3 1.0000 condition_record_support_limited 20 0 3 Abnormality_of_the_skeletal_system 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL17A1 human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Amelogenesis imperfecta Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 3 3 1.0000 condition_record_support_limited 20 0 0 Amelogenesis_imperfecta 180 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 248 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A1 mondo_mondo_0016068_medgen_c0265282_omim_ps228520_orphanet_2021 Fibrochondrogenesis MONDO:MONDO:0016068,MedGen:C0265282,OMIM:PS228520,Orphanet:2021 3 3 1.0000 condition_record_support_limited 20 0 1 Fibrochondrogenesis 248 large_gene_or_donor_burden_stress_case donor_burden_stress COG8 cog8_related_disorder COG8-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 COG8-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene COG1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COCH medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 3 3 1.0000 condition_record_support_limited 20 0 2 Rare_genetic_deafness 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COCH medgen_c0236038 Hereditary hearing loss and deafness MedGen:C0236038 3 3 1.0000 condition_record_support_limited 20 0 2 Hereditary_hearing_loss_and_deafness 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COA7 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene COA6 mondo_mondo_0014668_medgen_c4225304_omim_616501_orphanet_1561 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 MONDO:MONDO:0014668,MedGen:C4225304,OMIM:616501,Orphanet:1561 3 3 1.0000 condition_record_support_limited 20 0 0 Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_4 5 low_record_burden_interpretation_limited low_record_burden_gene CNOT3 cnot3_related_disorder CNOT3-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 CNOT3-related_disorder 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNOT1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 3 3 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 45 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CNKSR2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGB3 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 3 3 1.0000 condition_record_support_limited 20 0 3 Leber_congenital_amaurosis 271 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGB3 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 3 3 1.0000 condition_record_support_limited 20 0 3 Abnormality_of_the_eye 271 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA3 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 3 3 1.0000 condition_record_support_limited 20 0 0 Cone-rod_dystrophy 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA3 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 3 3 1.0000 condition_record_support_limited 20 0 3 Abnormality_of_the_eye 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CMPK2 mondo_mondo_0975875_medgen_c5975532_omim_621018 Basal ganglia calcification, idiopathic, 10, autosomal recessive MONDO:MONDO:0975875,MedGen:C5975532,OMIM:621018 3 3 1.0000 condition_record_support_limited 20 0 0 Basal_ganglia_calcification,_idiopathic,_10,_autosomal_recessive 3 low_record_burden_interpretation_limited low_record_burden_gene CLPP mondo_mondo_0017312_medgen_c0685838_omim_ps233400_orphanet_2855 Perrault syndrome MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855 3 3 1.0000 condition_record_support_limited 20 0 3 Perrault_syndrome 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLPB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN6 mondo_mondo_0019260_medgen_c0022797_orphanet_228340_orphanet_79262 Adult neuronal ceroid lipofuscinosis MONDO:MONDO:0019260,MedGen:C0022797,Orphanet:228340,Orphanet:79262 3 3 1.0000 condition_record_support_limited 20 0 3 Adult_neuronal_ceroid_lipofuscinosis 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN6 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 3 3 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_nervous_system 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLDN9 mondo_mondo_0033670_medgen_c5436789_omim_619093 Hearing loss, autosomal recessive 116 MONDO:MONDO:0033670,MedGen:C5436789,OMIM:619093 3 3 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive_116 3 low_record_burden_interpretation_limited low_record_burden_gene CLDN5 cldn5_related_neurodevelopmental_disorder CLDN5-related neurodevelopmental disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 CLDN5-related_neurodevelopmental_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene CLDN14 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 3 3 1.0000 condition_record_support_limited 20 0 3 Hearing_impairment 19 low_record_burden_interpretation_limited low_record_burden_gene CLCN5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 human_phenotype_ontology_hp_0002486_human_phenotype_ontology_hp_0003632_human_phenotype_ontology_hp_0003754_human_phenotype_ontology_hp_0003792_medgen_c0700153 Myotonia Human_Phenotype_Ontology:HP:0002486,Human_Phenotype_Ontology:HP:0003632,Human_Phenotype_Ontology:HP:0003754,Human_Phenotype_Ontology:HP:0003792,MedGen:C0700153 3 3 1.0000 condition_record_support_limited 20 0 3 Myotonia 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CIZ1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene CISD2 mondo_mondo_0011502_medgen_c1858028_omim_604928_orphanet_3463 Wolfram syndrome 2 MONDO:MONDO:0011502,MedGen:C1858028,OMIM:604928,Orphanet:3463 3 3 1.0000 condition_record_support_limited 20 0 0 Wolfram_syndrome_2 3 low_record_burden_interpretation_limited low_record_burden_gene CIROZ mondo_mondo_0976135_medgen_c5975611_omim_621080 Heterotaxy, visceral, 14, autosomal MONDO:MONDO:0976135,MedGen:C5975611,OMIM:621080 3 3 1.0000 condition_record_support_limited 20 0 0 Heterotaxy,_visceral,_14,_autosomal 3 low_record_burden_interpretation_limited low_record_burden_gene CILK1 mondo_mondo_0012980_medgen_c2675227_omim_612651_orphanet_199332 Endocrine-cerebro-osteodysplasia syndrome MONDO:MONDO:0012980,MedGen:C2675227,OMIM:612651,Orphanet:199332 3 3 1.0000 condition_record_support_limited 20 0 0 Endocrine-cerebro-osteodysplasia_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene CIITA condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CIBAR1 mondo_mondo_0032603_medgen_c4748721_omim_618219 Polydactyly, postaxial, type A9 MONDO:MONDO:0032603,MedGen:C4748721,OMIM:618219 3 3 1.0000 condition_record_support_limited 20 0 1 Polydactyly,_postaxial,_type_A9 3 low_record_burden_interpretation_limited low_record_burden_gene CIAO1 mondo_mondo_0975806_medgen_c5975413_omim_620960 Multiple mitochondrial dysfunctions syndrome 10 MONDO:MONDO:0975806,MedGen:C5975413,OMIM:620960 3 3 1.0000 condition_record_support_limited 20 0 1 Multiple_mitochondrial_dysfunctions_syndrome_10 3 low_record_burden_interpretation_limited low_record_burden_gene CHST14 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 3 3 1.0000 condition_record_support_limited 20 0 3 Cardiovascular_phenotype 37 single_exon_hotspot_opportunity local_compact_architecture CHRNG mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNB2 mondo_mondo_0020300_medgen_c3696898_orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy MONDO:MONDO:0020300,MedGen:C3696898,Orphanet:98784 3 3 1.0000 condition_record_support_limited 20 0 3 Autosomal_dominant_nocturnal_frontal_lobe_epilepsy 7 low_record_burden_interpretation_limited low_record_burden_gene CHRNA2 mondo_mondo_0012474_medgen_c1835905_omim_610353_orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy 4 MONDO:MONDO:0012474,MedGen:C1835905,OMIM:610353,Orphanet:98784 3 3 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_4 4 low_record_burden_interpretation_limited low_record_burden_gene CHRM3 human_phenotype_ontology_hp_0004392_mondo_mondo_0007032_medgen_c0033770_omim_100100_orphanet_2970 Prune belly syndrome Human_Phenotype_Ontology:HP:0004392,MONDO:MONDO:0007032,MedGen:C0033770,OMIM:100100,Orphanet:2970 3 3 1.0000 condition_record_support_limited 20 0 0 Prune_belly_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene CHRDL1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHMP4B mondo_mondo_0011547_medgen_c1854311_omim_605387_orphanet_91492 Cataract 31 multiple types MONDO:MONDO:0011547,MedGen:C1854311,OMIM:605387,Orphanet:91492 3 3 1.0000 condition_record_support_limited 20 0 0 Cataract_31_multiple_types 3 low_record_burden_interpretation_limited low_record_burden_gene CHMP1A mondo_mondo_0013990_medgen_c3554209_omim_614961_orphanet_324569 Pontocerebellar hypoplasia type 8 MONDO:MONDO:0013990,MedGen:C3554209,OMIM:614961,Orphanet:324569 3 3 1.0000 condition_record_support_limited 20 0 1 Pontocerebellar_hypoplasia_type_8 5 low_record_burden_interpretation_limited low_record_burden_gene CHM human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 314 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHEK2 inherited_prostate_cancer Inherited prostate cancer . 3 3 1.0000 condition_record_support_limited 20 0 3 Inherited_prostate_cancer 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 Carcinoma of pancreas MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 3 3 1.0000 condition_record_support_limited 20 0 3 Carcinoma_of_pancreas 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Breast neoplasm Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 3 3 1.0000 condition_record_support_limited 20 0 2 Breast_neoplasm 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHD4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD1 condition_not_provided condition not provided .|MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 See_cases|not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene CHCHD10 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene CHCHD10 mondo_mondo_0014025_medgen_c3554398_omim_615048_orphanet_276435 Lower motor neuron syndrome with late-adult onset MONDO:MONDO:0014025,MedGen:C3554398,OMIM:615048,Orphanet:276435 3 3 1.0000 condition_record_support_limited 20 0 3 Lower_motor_neuron_syndrome_with_late-adult_onset 5 low_record_burden_interpretation_limited low_record_burden_gene CHCHD10 mondo_mondo_0014395_medgen_c4014648_omim_615911_orphanet_275872 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 MONDO:MONDO:0014395,MedGen:C4014648,OMIM:615911,Orphanet:275872 3 3 1.0000 condition_record_support_limited 20 0 3 Frontotemporal_dementia_and/or_amyotrophic_lateral_sclerosis_2 5 low_record_burden_interpretation_limited low_record_burden_gene CFH cfh_related_disorder CFH-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 CFH-related_disorder 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFC1 mondo_mondo_0011546_medgen_c1415817_omim_605376_orphanet_450 Heterotaxy, visceral, 2, autosomal MONDO:MONDO:0011546,MedGen:C1415817,OMIM:605376,Orphanet:450 3 3 1.0000 condition_record_support_limited 20 0 0 Heterotaxy,_visceral,_2,_autosomal 3 low_record_burden_interpretation_limited low_record_burden_gene CFAP92 mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 Mitochondrial complex I deficiency MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 3 3 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_complex_I_deficiency 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP44 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene CFAP44 cfap44_related_disorder CFAP44-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 CFAP44-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene CFAP43 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP418 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy 26 compact_adjacent_exon_block_opportunity local_compact_architecture CFAP410 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 1.0000 condition_record_support_limited 20 0 3 Retinitis_pigmentosa 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP85L efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 3 3 1.0000 condition_record_support_limited 20 0 3 Primary_dilated_cardiomyopathy 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP85L human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Lissencephaly Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 3 3 1.0000 condition_record_support_limited 20 0 1 Lissencephaly 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP85L mondo_mondo_0013475_medgen_c3151265_omim_613874 Hypertrophic cardiomyopathy 18 MONDO:MONDO:0013475,MedGen:C3151265,OMIM:613874 3 3 1.0000 condition_record_support_limited 20 0 2 Hypertrophic_cardiomyopathy_18 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP85L human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 3 3 1.0000 condition_record_support_limited 20 0 3 Cardiomyopathy 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP76 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 13 low_record_burden_interpretation_limited low_record_burden_gene CEP290 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 3 3 1.0000 condition_record_support_limited 20 0 3 Retinal_disorder 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0002085_human_phenotype_ontology_hp_0007051_human_phenotype_ontology_hp_0007357_mondo_mondo_0017080_medgen_c0014067_orphanet_268823 Occipital encephalocele Human_Phenotype_Ontology:HP:0002085,Human_Phenotype_Ontology:HP:0007051,Human_Phenotype_Ontology:HP:0007357,MONDO:MONDO:0017080,MedGen:C0014067,Orphanet:268823 3 3 1.0000 condition_record_support_limited 20 0 3 Occipital_encephalocele 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 mondo_mondo_0012848_medgen_c2676790_omim_612284_orphanet_564 Meckel syndrome, type 6 MONDO:MONDO:0012848,MedGen:C2676790,OMIM:612284,Orphanet:564 3 3 1.0000 condition_record_support_limited 20 0 3 Meckel_syndrome,_type_6 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 mondo_mondo_0011821_medgen_c1846357_omim_607361_orphanet_564 Meckel syndrome, type 3 MONDO:MONDO:0011821,MedGen:C1846357,OMIM:607361,Orphanet:564 3 3 1.0000 condition_record_support_limited 20 0 3 Meckel_syndrome,_type_3 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 3 3 1.0000 condition_record_support_limited 20 0 3 Global_developmental_delay 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 3 3 1.0000 condition_record_support_limited 20 0 0 Focal_segmental_glomerulosclerosis 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP135 cep135_related_disorder CEP135-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 CEP135-related_disorder 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP120 cep120_related_disorder CEP120-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 CEP120-related_disorder 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP112 mondo_mondo_0033622_medgen_c5436678_omim_619044 Spermatogenic failure 44 MONDO:MONDO:0033622,MedGen:C5436678,OMIM:619044 3 3 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_44 3 low_record_burden_interpretation_limited low_record_burden_gene CEP104 cep104_related_disorder CEP104-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 CEP104-related_disorder 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CECR2 cecr2_related_neurodevelopmental_disorder CECR2-related neurodevelopmental disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 CECR2-related_neurodevelopmental_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene CEBPA mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 3 3 1.0000 condition_record_support_limited 20 0 0 Hereditary_cancer-predisposing_syndrome 67 single_exon_hotspot_opportunity local_compact_architecture CEACAM16 mondo_mondo_0032732_medgen_c5193079_omim_618410 Hearing loss, autosomal recessive 113 MONDO:MONDO:0032732,MedGen:C5193079,OMIM:618410 3 3 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive_113 15 low_record_burden_interpretation_limited low_record_burden_gene CDON mondo_mondo_0013642_medgen_c3280215_omim_614226_orphanet_2162 Holoprosencephaly 11 MONDO:MONDO:0013642,MedGen:C3280215,OMIM:614226,Orphanet:2162 3 3 1.0000 condition_record_support_limited 20 0 1 Holoprosencephaly_11 5 low_record_burden_interpretation_limited low_record_burden_gene CDKN2A mondo_mondo_0023644_medgen_c0220641 Lip and oral cavity carcinoma MONDO:MONDO:0023644,MedGen:C0220641 3 3 1.0000 condition_record_support_limited 20 0 2 Lip_and_oral_cavity_carcinoma 168 compact_adjacent_exon_block_opportunity local_compact_architecture CDKN1C cdkn1c_related_disorder CDKN1C-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 CDKN1C-related_disorder 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKN1B human_phenotype_ontology_hp_0100634_mondo_mondo_0019496_medgen_c0206754_orphanet_877 Neuroendocrine neoplasm Human_Phenotype_Ontology:HP:0100634,MONDO:MONDO:0019496,MedGen:C0206754,Orphanet:877 3 3 1.0000 condition_record_support_limited 20 0 1 Neuroendocrine_neoplasm 114 compact_adjacent_exon_block_opportunity local_compact_architecture CDK5RAP2 cdk5rap2_related_disorder CDK5RAP2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 CDK5RAP2-related_disorder 78 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CDK13 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 3 3 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDIN1 mondo_mondo_0014285_medgen_c3810185_omim_615631_orphanet_98869 Congenital dyserythropoietic anemia type type 1B MONDO:MONDO:0014285,MedGen:C3810185,OMIM:615631,Orphanet:98869 3 3 1.0000 condition_record_support_limited 20 0 0 Congenital_dyserythropoietic_anemia_type_type_1B 3 low_record_burden_interpretation_limited low_record_burden_gene CDHR1 mondo_mondo_0700381_medgen_c5829994 Macular dystrophy, retinal, 5 MONDO:MONDO:0700381,MedGen:C5829994 3 3 1.0000 condition_record_support_limited 20 0 2 Macular_dystrophy,_retinal,_5 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDHR1 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 3 3 1.0000 condition_record_support_limited 20 0 3 Cone-rod_dystrophy 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH3 hypotrichosis_with_juvenile_macular_dystrophy Hypotrichosis with juvenile macular dystrophy . 3 3 1.0000 condition_record_support_limited 20 0 2 Hypotrichosis_with_juvenile_macular_dystrophy 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH23 autosomal_recessive_cdh23_related_disorders autosomal recessive CDH23-related disorders . 3 3 1.0000 condition_record_support_limited 20 0 3 autosomal_recessive_CDH23-related_disorders 725 large_gene_or_donor_burden_stress_case donor_burden_stress CDH23 monogenic_hearing_loss Monogenic hearing loss . 3 3 1.0000 condition_record_support_limited 20 0 3 Monogenic_hearing_loss 725 large_gene_or_donor_burden_stress_case donor_burden_stress CDH23 human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 3 3 1.0000 condition_record_support_limited 20 0 2 Ear_malformation 725 large_gene_or_donor_burden_stress_case donor_burden_stress CDH2 mondo_mondo_0030062_medgen_c5394505_omim_618920 Arrhythmogenic right ventricular dysplasia, familial, 14 MONDO:MONDO:0030062,MedGen:C5394505,OMIM:618920 3 3 1.0000 condition_record_support_limited 20 0 1 Arrhythmogenic_right_ventricular_dysplasia,_familial,_14 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH1 medgen_c0810364_orphanet_1991 Cleft lip with or without cleft palate MedGen:C0810364,Orphanet:1991 3 3 1.0000 condition_record_support_limited 20 0 0 Cleft_lip_with_or_without_cleft_palate 622 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CDCA7 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene CDC42 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD79B mondo_mondo_0012987_medgen_c3150207_omim_612692 Agammaglobulinemia 6, autosomal recessive MONDO:MONDO:0012987,MedGen:C3150207,OMIM:612692 3 3 1.0000 condition_record_support_limited 20 0 0 Agammaglobulinemia_6,_autosomal_recessive 4 low_record_burden_interpretation_limited low_record_burden_gene CD70 mondo_mondo_0034054_medgen_c5568559_omim_618261_orphanet_538958 Severe combined immunodeficiency due to CD70 deficiency MONDO:MONDO:0034054,MedGen:C5568559,OMIM:618261,Orphanet:538958 3 3 1.0000 condition_record_support_limited 20 0 0 Severe_combined_immunodeficiency_due_to_CD70_deficiency 3 low_record_burden_interpretation_limited low_record_burden_gene CD59 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene CD55 cd55_related_disorder CD55-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 CD55-related_disorder 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD151 medgen_c1867341_omim_179620 RAPH BLOOD GROUP SYSTEM MedGen:C1867341,OMIM:179620 3 3 1.0000 condition_record_support_limited 20 0 3 RAPH_BLOOD_GROUP_SYSTEM 6 low_record_burden_interpretation_limited low_record_burden_gene CCNO condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 37 compact_adjacent_exon_block_opportunity local_compact_architecture CCNH mondo_mondo_0007864_mesh_d007715_medgen_c0022739_omim_149000_orphanet_2346 Angioosteohypertrophic syndrome MONDO:MONDO:0007864,MeSH:D007715,MedGen:C0022739,OMIM:149000,Orphanet:2346 3 3 1.0000 condition_record_support_limited 20 0 0 Angioosteohypertrophic_syndrome 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCNF mondo_mondo_0030875_medgen_c5436884_omim_619141 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 MONDO:MONDO:0030875,MedGen:C5436884,OMIM:619141 3 3 1.0000 condition_record_support_limited 20 0 1 Frontotemporal_dementia_and/or_amyotrophic_lateral_sclerosis_5 3 low_record_burden_interpretation_limited low_record_burden_gene CCM2 human_phenotype_ontology_hp_0033522_mondo_mondo_0000820_medgen_c2919945_omim_116860_orphanet_221061 Cerebral cavernous malformation Human_Phenotype_Ontology:HP:0033522,MONDO:MONDO:0000820,MedGen:C2919945,OMIM:116860,Orphanet:221061 3 3 1.0000 condition_record_support_limited 20 0 0 Cerebral_cavernous_malformation 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A human_phenotype_ontology_hp_0006034_human_phenotype_ontology_hp_0006046_human_phenotype_ontology_hp_0006123_human_phenotype_ontology_hp_0009605_human_phenotype_ontology_hp_0010442_mondo_mondo_0021003_medgen_c0152427_omim_603596 Polydactyly Human_Phenotype_Ontology:HP:0006034,Human_Phenotype_Ontology:HP:0006046,Human_Phenotype_Ontology:HP:0006123,Human_Phenotype_Ontology:HP:0009605,Human_Phenotype_Ontology:HP:0010442,MONDO:MONDO:0021003,MedGen:C0152427,OMIM:603596 3 3 1.0000 condition_record_support_limited 20 0 3 Polydactyly 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 1.0000 condition_record_support_limited 20 0 3 Neurodevelopmental_disorder 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A mondo_mondo_0008944_medgen_c4551568_omim_213300 Joubert syndrome 1 MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300 3 3 1.0000 condition_record_support_limited 20 0 3 Joubert_syndrome_1 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBS medgen_c4017308 Homocystinuria, pyridoxine-nonresponsive MedGen:C4017308 3 3 1.0000 condition_record_support_limited 20 0 3 Homocystinuria,_pyridoxine-nonresponsive 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBLIF condition_not_provided condition not provided .|MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 See_cases|not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene CBLB mondo_mondo_0957388_medgen_c5830600_omim_620430 Autoimmune disease, multisystem, infantile-onset, 3 MONDO:MONDO:0957388,MedGen:C5830600,OMIM:620430 3 3 1.0000 condition_record_support_limited 20 0 0 Autoimmune_disease,_multisystem,_infantile-onset,_3 3 low_record_burden_interpretation_limited low_record_burden_gene CBL mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAVIN1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene CAV3 mondo_mondo_0008647_medgen_c3495498_omim_192600 Hypertrophic cardiomyopathy 1 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 3 3 1.0000 condition_record_support_limited 20 0 3 Hypertrophic_cardiomyopathy_1 26 compact_adjacent_exon_block_opportunity local_compact_architecture CATSPER1 mondo_mondo_0013070_medgen_c2751811_omim_612997_orphanet_276234 Spermatogenic failure 7 MONDO:MONDO:0013070,MedGen:C2751811,OMIM:612997,Orphanet:276234 3 3 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_7 3 low_record_burden_interpretation_limited low_record_burden_gene CASZ1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene CASR mondo_mondo_0016390_medgen_c1832648_omim_ps146200_orphanet_2238 Familial hypoparathyroidism MONDO:MONDO:0016390,MedGen:C1832648,OMIM:PS146200,Orphanet:2238 3 3 1.0000 condition_record_support_limited 20 0 2 Familial_hypoparathyroidism 313 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASQ1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene CASP10 human_phenotype_ontology_hp_0012539_mondo_mondo_0018908_medgen_c0024305_orphanet_547 Non-Hodgkin lymphoma Human_Phenotype_Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547 3 3 1.0000 condition_record_support_limited 20 0 1 Non-Hodgkin_lymphoma 5 low_record_burden_interpretation_limited low_record_burden_gene CASK medgen_c0008073 Developmental disorder MedGen:C0008073 3 3 1.0000 condition_record_support_limited 20 0 1 Developmental_disorder 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CARMIL2 human_phenotype_ontology_hp_0005387_mondo_mondo_0015131_medgen_c2711630_orphanet_101972 Combined immunodeficiency Human_Phenotype_Ontology:HP:0005387,MONDO:MONDO:0015131,MedGen:C2711630,Orphanet:101972 3 3 1.0000 condition_record_support_limited 20 0 3 Combined_immunodeficiency 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CARMIL2 carmil2_related_disorder CARMIL2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 CARMIL2-related_disorder 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN5 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene CAPN3 human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Muscle weakness Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 3 3 1.0000 condition_record_support_limited 20 0 3 Muscle_weakness 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAP2 mondo_mondo_0957545_medgen_c5830685_omim_620462 Cardiomyopathy, dilated, 2I MONDO:MONDO:0957545,MedGen:C5830685,OMIM:620462 3 3 1.0000 condition_record_support_limited 20 0 0 Cardiomyopathy,_dilated,_2I 3 low_record_burden_interpretation_limited low_record_burden_gene CAMSAP1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene CAMK2A mondo_mondo_0054861_medgen_c4748167_omim_618095 Intellectual disability, autosomal recessive 63 MONDO:MONDO:0054861,MedGen:C4748167,OMIM:618095 3 3 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_autosomal_recessive_63 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CALM3 mondo_mondo_0032915_medgen_c5394068_omim_618782 Long QT syndrome 16 MONDO:MONDO:0032915,MedGen:C5394068,OMIM:618782 3 3 1.0000 condition_record_support_limited 20 0 2 Long_QT_syndrome_16 8 low_record_burden_interpretation_limited low_record_burden_gene CAD mondo_mondo_0018226_medgen_c4552072_orphanet_364063 Infantile epileptic dyskinetic encephalopathy MONDO:MONDO:0018226,MedGen:C4552072,Orphanet:364063 3 3 1.0000 condition_record_support_limited 20 0 1 Infantile_epileptic_dyskinetic_encephalopathy 95 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1S mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 Centronuclear myopathy MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 3 3 1.0000 condition_record_support_limited 20 0 3 Centronuclear_myopathy 126 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1F human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 3 3 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 189 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1F human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 3 3 1.0000 condition_record_support_limited 20 0 2 Optic_atrophy 189 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 3 Intellectual_disability 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture C9 c9_related_disorder C9-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 C9-related_disorder 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C8B c8b_related_disorder C8B-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 C8B-related_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C7 c7_related_disorder C7-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 C7-related_disorder 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C1QTNF5 mondo_mondo_0011579_medgen_c1854065_omim_605670_orphanet_67042 Late-onset retinal degeneration MONDO:MONDO:0011579,MedGen:C1854065,OMIM:605670,Orphanet:67042 3 3 1.0000 condition_record_support_limited 20 0 2 Late-onset_retinal_degeneration 70 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture C1GALT1C1 mondo_mondo_0957495_medgen_c5829585_omim_301110 Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature MONDO:MONDO:0957495,MedGen:C5829585,OMIM:301110 3 3 1.0000 condition_record_support_limited 20 0 2 Hemolytic_uremic_syndrome,_atypical,_8,_with_rhizomelic_short_stature 8 low_record_burden_interpretation_limited low_record_burden_gene C17ORF107 chrne_related_disorder CHRNE-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 CHRNE-related_disorder 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C14ORF39 condition_not_provided condition not provided .|MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 See_cases|not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene C14ORF39 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 3 3 1.0000 condition_record_support_limited 20 0 3 Non-obstructive_azoospermia 17 low_record_burden_interpretation_limited low_record_burden_gene C12ORF43 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene C11ORF65 human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Breast neoplasm Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 3 3 1.0000 condition_record_support_limited 20 0 3 Breast_neoplasm 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C10ORF71 mondo_mondo_0979239_medgen_c6012742_omim_621251 Cardiomyopathy, dilated, 1QQ MONDO:MONDO:0979239,MedGen:C6012742,OMIM:621251 3 3 1.0000 condition_record_support_limited 20 0 0 Cardiomyopathy,_dilated,_1QQ 4 low_record_burden_interpretation_limited low_record_burden_gene C10ORF105 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 3 3 1.0000 condition_record_support_limited 20 0 2 Rare_genetic_deafness 65 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture BUB1B mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 3 3 1.0000 condition_record_support_limited 20 0 3 Colorectal_cancer 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BUB1 mondo_mondo_0859342_medgen_c5774280_omim_620183 Microcephaly 30, primary, autosomal recessive MONDO:MONDO:0859342,MedGen:C5774280,OMIM:620183 3 3 1.0000 condition_record_support_limited 20 0 0 Microcephaly_30,_primary,_autosomal_recessive 6 low_record_burden_interpretation_limited low_record_burden_gene BSCL2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRIP1 brip1_associated_familial_cancer_predisposition BRIP1-associated familial cancer predisposition . 3 3 1.0000 condition_record_support_limited 20 0 3 BRIP1-associated_familial_cancer_predisposition 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRF1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 12 low_record_burden_interpretation_limited low_record_burden_gene BRCA2 mondo_mondo_0006003_medgen_cn277893 Uterine corpus cancer MONDO:MONDO:0006003,MedGen:CN277893 3 3 1.0000 condition_record_support_limited 20 0 3 Uterine_corpus_cancer 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 3 3 1.0000 condition_record_support_limited 20 0 3 Ovarian_cancer 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_0009831_medgen_c0346647 Malignant tumor of pancreas MONDO:MONDO:0009831,MedGen:C0346647 3 3 1.0000 condition_record_support_limited 20 0 3 Malignant_tumor_of_pancreas 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 medgen_c3539878 Triple-negative breast cancer MedGen:C3539878 3 3 1.0000 condition_record_support_limited 20 0 3 Triple-negative_breast_cancer 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 Carcinoma of pancreas MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 3 3 1.0000 condition_record_support_limited 20 0 3 Carcinoma_of_pancreas 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRAF mondo_mondo_0011098_medgen_c4722327_omim_601518_orphanet_1331 Prostate cancer, hereditary, 1 MONDO:MONDO:0011098,MedGen:C4722327,OMIM:601518,Orphanet:1331 3 3 1.0000 condition_record_support_limited 20 0 3 Prostate_cancer,_hereditary,_1 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BORCS8 mondo_mondo_0975837_medgen_c5975477_omim_620987 Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities MONDO:MONDO:0975837,MedGen:C5975477,OMIM:620987 3 3 1.0000 condition_record_support_limited 20 0 0 Neurodegeneration,_infantile-onset,_with_optic_atrophy_and_brain_abnormalities 3 low_record_burden_interpretation_limited low_record_burden_gene BOLA3 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene BMPR1B mondo_mondo_0014798_medgen_c4225183_omim_616849_orphanet_93388 Brachydactyly type A1D MONDO:MONDO:0014798,MedGen:C4225183,OMIM:616849,Orphanet:93388 3 3 1.0000 condition_record_support_limited 20 0 1 Brachydactyly_type_A1D 18 low_record_burden_interpretation_limited low_record_burden_gene BLVRA mondo_mondo_0013595_medgen_c3279964_omim_614156_orphanet_276405 Hyperbiliverdinemia MONDO:MONDO:0013595,MedGen:C3279964,OMIM:614156,Orphanet:276405 3 3 1.0000 condition_record_support_limited 20 0 1 Hyperbiliverdinemia 3 low_record_burden_interpretation_limited low_record_burden_gene BLTP1 human_phenotype_ontology_hp_0001762_mondo_mondo_0007342_medgen_c0009081_omim_119800_orphanet_199315 Clubfoot Human_Phenotype_Ontology:HP:0001762,MONDO:MONDO:0007342,MedGen:C0009081,OMIM:119800,Orphanet:199315 3 3 1.0000 condition_record_support_limited 20 0 3 Clubfoot 53 large_gene_or_donor_burden_stress_case donor_burden_stress BLTP1 bltp1_related_disorder BLTP1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 BLTP1-related_disorder 53 large_gene_or_donor_burden_stress_case donor_burden_stress BLM mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 3 3 1.0000 condition_record_support_limited 20 0 3 Hereditary_breast_ovarian_cancer_syndrome 583 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BICD2 mondo_mondo_0015362_medgen_c5548212_omim_ps182960_orphanet_140465 Neuronopathy, distal hereditary motor, autosomal dominant MONDO:MONDO:0015362,MedGen:C5548212,OMIM:PS182960,Orphanet:140465 3 3 1.0000 condition_record_support_limited 20 0 2 Neuronopathy,_distal_hereditary_motor,_autosomal_dominant 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BGN mondo_mondo_0010248_medgen_c1848097_omim_300106_orphanet_93349 X-linked spondyloepimetaphyseal dysplasia MONDO:MONDO:0010248,MedGen:C1848097,OMIM:300106,Orphanet:93349 3 3 1.0000 condition_record_support_limited 20 0 1 X-linked_spondyloepimetaphyseal_dysplasia 17 low_record_burden_interpretation_limited low_record_burden_gene BEST1 mondo_mondo_0958012_medgen_c5882740_omim_620669 Neurodegeneration with brain iron accumulation 9 MONDO:MONDO:0958012,MedGen:C5882740,OMIM:620669 3 3 1.0000 condition_record_support_limited 20 0 1 Neurodegeneration_with_brain_iron_accumulation_9 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BEST1 mondo_mondo_0700238_medgen_cn375913 BEST1-related dominant retinopathy MONDO:MONDO:0700238,MedGen:CN375913 3 3 1.0000 condition_record_support_limited 20 0 3 BEST1-related_dominant_retinopathy 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCS1L mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 3 3 1.0000 condition_record_support_limited 20 0 3 Leigh_syndrome 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL11A human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 3 3 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_delay 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL11A bcl11a_related_bafopathy BCL11A-related BAFopathy . 3 3 1.0000 condition_record_support_limited 20 0 0 BCL11A-related_BAFopathy 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL10 mondo_mondo_0007650_medgen_c0242647_omim_137245_orphanet_52417 Mucosa-associated lymphoma MONDO:MONDO:0007650,MedGen:C0242647,OMIM:137245,Orphanet:52417 3 3 1.0000 condition_record_support_limited 20 0 1 Mucosa-associated_lymphoma 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL10 medgen_c3276200 MALE GERM CELL TUMOR, SOMATIC MedGen:C3276200 3 3 1.0000 condition_record_support_limited 20 0 2 MALE_GERM_CELL_TUMOR,_SOMATIC 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCAM medgen_c4017284 BLOOD GROUP--LUTHERAN NULL MedGen:C4017284 3 3 1.0000 condition_record_support_limited 20 0 0 BLOOD_GROUP--LUTHERAN_NULL 4 low_record_burden_interpretation_limited low_record_burden_gene BBS7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS4 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS12 mondo_mondo_0008854_medgen_c2936862_omim_209900 Bardet-Biedl syndrome 1 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 3 3 1.0000 condition_record_support_limited 20 0 2 Bardet-Biedl_syndrome_1 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BAZ2B mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene BAG3 bag3_related_disorder BAG3-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 BAG3-related_disorder 154 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B9D2 mondo_mondo_0800383_medgen_c4539386 Joubert syndrome 34 MONDO:MONDO:0800383,MedGen:C4539386 3 3 1.0000 condition_record_support_limited 20 0 3 Joubert_syndrome_34 10 low_record_burden_interpretation_limited low_record_burden_gene B9D1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene B4GAT1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene B4GAT1 mondo_mondo_0014120_medgen_c3809042_omim_615287_orphanet_899 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 MONDO:MONDO:0014120,MedGen:C3809042,OMIM:615287,Orphanet:899 3 3 1.0000 condition_record_support_limited 20 0 1 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A13 6 low_record_burden_interpretation_limited low_record_burden_gene B4GALT7 mondo_mondo_0034021_medgen_c5680154_orphanet_536471 Spondylodysplastic Ehlers-Danlos syndrome MONDO:MONDO:0034021,MedGen:C5680154,Orphanet:536471 3 3 1.0000 condition_record_support_limited 20 0 3 Spondylodysplastic_Ehlers-Danlos_syndrome 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B4GALT7 mondo_mondo_0020682_medgen_c4552003_omim_130070 Ehlers-Danlos syndrome, spondylodysplastic type, 1 MONDO:MONDO:0020682,MedGen:C4552003,OMIM:130070 3 3 1.0000 condition_record_support_limited 20 0 3 Ehlers-Danlos_syndrome,_spondylodysplastic_type,_1 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B4GALNT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B3GLCT mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B3GAT3 multiple_joint_dislocations_short_stature_and_craniofacial_dysmorphism_without_congenital_heart_defects MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS . 3 3 1.0000 condition_record_support_limited 20 0 2 MULTIPLE_JOINT_DISLOCATIONS,_SHORT_STATURE,_AND_CRANIOFACIAL_DYSMORPHISM_WITHOUT_CONGENITAL_HEART_DEFECTS 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B3GALT6 b3galt6_related_disorder B3GALT6-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 B3GALT6-related_disorder 36 single_exon_hotspot_opportunity local_compact_architecture B3GALT6 mondo_mondo_0012282_medgen_c1836121_omim_609465 Al-Gazali syndrome MONDO:MONDO:0012282,MedGen:C1836121,OMIM:609465 3 3 1.0000 condition_record_support_limited 20 0 1 Al-Gazali_syndrome 36 single_exon_hotspot_opportunity local_compact_architecture AXIN1 mondo_mondo_0957832_medgen_c5882710_omim_620558 Craniometadiaphyseal osteosclerosis with hip dysplasia MONDO:MONDO:0957832,MedGen:C5882710,OMIM:620558 3 3 1.0000 condition_record_support_limited 20 0 0 Craniometadiaphyseal_osteosclerosis_with_hip_dysplasia 4 low_record_burden_interpretation_limited low_record_burden_gene AVPR2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 109 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AVIL human_phenotype_ontology_hp_0012588_mondo_mondo_0044765_medgen_c0403397 Steroid-resistant nephrotic syndrome Human_Phenotype_Ontology:HP:0012588,MONDO:MONDO:0044765,MedGen:C0403397 3 3 1.0000 condition_record_support_limited 20 0 3 Steroid-resistant_nephrotic_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene AUTS2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AUTS2 auts2_related_disorder AUTS2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 AUTS2-related_disorder 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATRX mondo_mondo_0016980_medgen_cn257940 ATR-X-related syndrome MONDO:MONDO:0016980,MedGen:CN257940 3 3 1.0000 condition_record_support_limited 20 0 1 ATR-X-related_syndrome 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATP6V1B1 renal_tubulopathies Renal tubulopathies . 3 3 1.0000 condition_record_support_limited 20 0 1 Renal_tubulopathies 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V1B1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V1B1 human_phenotype_ontology_hp_0008341_mondo_mondo_0015827_medgen_c1704380_orphanet_18 Distal renal tubular acidosis Human_Phenotype_Ontology:HP:0008341,MONDO:MONDO:0015827,MedGen:C1704380,Orphanet:18 3 3 1.0000 condition_record_support_limited 20 0 3 Distal_renal_tubular_acidosis 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V1B1 atp6v1b1_related_disorder ATP6V1B1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 ATP6V1B1-related_disorder 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V1A mondo_mondo_0027451_medgen_c4479409_omim_617403 Autosomal recessive cutis laxa type 2D MONDO:MONDO:0027451,MedGen:C4479409,OMIM:617403 3 3 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_cutis_laxa_type_2D 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V0A4 human_phenotype_ontology_hp_0008341_mondo_mondo_0015827_medgen_c1704380_orphanet_18 Distal renal tubular acidosis Human_Phenotype_Ontology:HP:0008341,MONDO:MONDO:0015827,MedGen:C1704380,Orphanet:18 3 3 1.0000 condition_record_support_limited 20 0 1 Distal_renal_tubular_acidosis 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V0A2 human_phenotype_ontology_hp_0000973_mondo_mondo_0016175_medgen_c0010495_orphanet_209 Cutis laxa Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209 3 3 1.0000 condition_record_support_limited 20 0 2 Cutis_laxa 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V0A1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene ATP5PO mondo_mondo_0957255_medgen_c5830482_omim_620359 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 MONDO:MONDO:0957255,MedGen:C5830482,OMIM:620359 3 3 1.0000 condition_record_support_limited 20 0 3 Mitochondrial_complex_V_(ATP_synthase)_deficiency,_nuclear_type_7 3 low_record_burden_interpretation_limited low_record_burden_gene ATP5MK mondo_mondo_0032869_medgen_c5231461_omim_618683 Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 MONDO:MONDO:0032869,MedGen:C5231461,OMIM:618683 3 3 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_5_(ATP_synthase)_deficiency,_nuclear_type_6 3 low_record_burden_interpretation_limited low_record_burden_gene ATP5ME mondo_mondo_0013429_medgen_c3151107_omim_613801_orphanet_791 Retinitis pigmentosa 40 MONDO:MONDO:0013429,MedGen:C3151107,OMIM:613801,Orphanet:791 3 3 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa_40 3 low_record_burden_interpretation_limited low_record_burden_gene ATP5MC3 mondo_mondo_0859215_medgen_c5562051_omim_619681 Dystonia, early-onset, and/or spastic paraplegia MONDO:MONDO:0859215,MedGen:C5562051,OMIM:619681 3 3 1.0000 condition_record_support_limited 20 0 1 Dystonia,_early-onset,_and/or_spastic_paraplegia 3 low_record_burden_interpretation_limited low_record_burden_gene ATP2B3 mondo_mondo_0010547_medgen_c0796205_omim_302500_orphanet_1175 X-linked progressive cerebellar ataxia MONDO:MONDO:0010547,MedGen:C0796205,OMIM:302500,Orphanet:1175 3 3 1.0000 condition_record_support_limited 20 0 2 X-linked_progressive_cerebellar_ataxia 9 low_record_burden_interpretation_limited low_record_burden_gene ATP2B3 mondo_mondo_0016505_medgen_c1706762_orphanet_231625 Aldosterone-producing adrenal cortex adenoma MONDO:MONDO:0016505,MedGen:C1706762,Orphanet:231625 3 3 1.0000 condition_record_support_limited 20 0 0 Aldosterone-producing_adrenal_cortex_adenoma 9 low_record_burden_interpretation_limited low_record_burden_gene ATP2B1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2A2 mondo_mondo_0007048_medgen_c0265971_omim_101900_orphanet_79151 Acrokeratosis verruciformis of Hopf MONDO:MONDO:0007048,MedGen:C0265971,OMIM:101900,Orphanet:79151 3 3 1.0000 condition_record_support_limited 20 0 2 Acrokeratosis_verruciformis_of_Hopf 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 human_phenotype_ontology_hp_0010553_mondo_mondo_0000483_medgen_c0085637 Oculogyric crisis Human_Phenotype_Ontology:HP:0010553,MONDO:MONDO:0000483,MedGen:C0085637 3 3 1.0000 condition_record_support_limited 20 0 3 Oculogyric_crisis 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 human_phenotype_ontology_hp_0002301_mondo_mondo_0001170_medgen_c0018991 Hemiplegia Human_Phenotype_Ontology:HP:0002301,MONDO:MONDO:0001170,MedGen:C0018991 3 3 1.0000 condition_record_support_limited 20 0 3 Hemiplegia 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A1 mondo_mondo_0016505_medgen_c1706762_orphanet_231625 Aldosterone-producing adrenal cortex adenoma MONDO:MONDO:0016505,MedGen:C1706762,Orphanet:231625 3 3 1.0000 condition_record_support_limited 20 0 0 Aldosterone-producing_adrenal_cortex_adenoma 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATM mondo_mondo_0019468_medgen_c2363142_orphanet_86871 T-cell prolymphocytic leukemia MONDO:MONDO:0019468,MedGen:C2363142,Orphanet:86871 3 3 1.0000 condition_record_support_limited 20 0 3 T-cell_prolymphocytic_leukemia 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM mondo_mondo_0015278_medgen_c2931038_omim_260350_orphanet_1333 Familial pancreatic carcinoma MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333 3 3 1.0000 condition_record_support_limited 20 0 3 Familial_pancreatic_carcinoma 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Endometrial carcinoma Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 3 3 1.0000 condition_record_support_limited 20 0 3 Endometrial_carcinoma 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 3 3 1.0000 condition_record_support_limited 20 0 3 Cerebellar_ataxia 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Breast neoplasm Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 3 3 1.0000 condition_record_support_limited 20 0 3 Breast_neoplasm 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATL3 mondo_mondo_0014286_medgen_c3810194_omim_615632_orphanet_36386 Neuropathy, hereditary sensory, type 1F MONDO:MONDO:0014286,MedGen:C3810194,OMIM:615632,Orphanet:36386 3 3 1.0000 condition_record_support_limited 20 0 0 Neuropathy,_hereditary_sensory,_type_1F 3 low_record_burden_interpretation_limited low_record_burden_gene ATL1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATF6 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATF6 human_phenotype_ontology_hp_0011516_mondo_mondo_0018852_medgen_c0152200_orphanet_49382 Achromatopsia Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382 3 3 1.0000 condition_record_support_limited 20 0 1 Achromatopsia 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATAD1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene ASTN2 mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 Autosomal recessive limb-girdle muscular dystrophy MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 3 3 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_limb-girdle_muscular_dystrophy 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASPRV1 mondo_mondo_0007812_medgen_c0432304_omim_146750 Autosomal dominant lamellar ichthyosis MONDO:MONDO:0007812,MedGen:C0432304,OMIM:146750 3 3 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_lamellar_ichthyosis 3 low_record_burden_interpretation_limited low_record_burden_gene ASNS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASNS human_phenotype_ontology_hp_0002060_medgen_c4021762 Abnormal cerebral morphology Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 3 3 1.0000 condition_record_support_limited 20 0 0 Abnormal_cerebral_morphology 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASL mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 3 3 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 236 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASCC1 ascc1_related_disorder ASCC1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 ASCC1-related_disorder 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARX epileptic_encephalopathy_early_infanitle_1 epileptic encephalopathy, early infanitle, 1 . 3 3 1.0000 condition_record_support_limited 20 0 0 epileptic_encephalopathy,_early_infanitle,_1 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARX x_linked_arx_related_disorders X-linked ARX-related disorders . 3 3 1.0000 condition_record_support_limited 20 0 3 X-linked_ARX-related_disorders 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARSK mondo_mondo_0030524_medgen_c5562064_omim_619698_orphanet_662216 Mucopolysaccharidosis, type 10 MONDO:MONDO:0030524,MedGen:C5562064,OMIM:619698,Orphanet:662216 3 3 1.0000 condition_record_support_limited 20 0 0 Mucopolysaccharidosis,_type_10 3 low_record_burden_interpretation_limited low_record_burden_gene ARSB mondo_mondo_0018868_medgen_c0023522_omim_250100_orphanet_512 Metachromatic leukodystrophy MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,Orphanet:512 3 3 1.0000 condition_record_support_limited 20 0 2 Metachromatic_leukodystrophy 254 compact_adjacent_exon_block_opportunity local_compact_architecture ARSA medgen_c4017091 ARYLSULFATASE A PSEUDODEFICIENCY MedGen:C4017091 3 3 1.0000 condition_record_support_limited 20 0 0 ARYLSULFATASE_A_PSEUDODEFICIENCY 357 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARR3 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene ARR3 arr3_related_disorder ARR3-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 ARR3-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene ARNT2 mondo_mondo_0014404_medgen_c4014708_omim_615926 Webb-Dattani syndrome MONDO:MONDO:0014404,MedGen:C4014708,OMIM:615926 3 3 1.0000 condition_record_support_limited 20 0 0 Webb-Dattani_syndrome 10 low_record_burden_interpretation_limited low_record_burden_gene ARMC5 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 30 compact_adjacent_exon_block_opportunity local_compact_architecture ARMC12 mondo_mondo_0958242_medgen_c5935587_omim_620744 Spermatogenic failure 90 MONDO:MONDO:0958242,MedGen:C5935587,OMIM:620744 3 3 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_90 3 low_record_burden_interpretation_limited low_record_burden_gene ARL2BP human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa 16 low_record_burden_interpretation_limited low_record_burden_gene ARL13B condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARID1B mondo_mondo_0011225_medgen_c1865370_omim_602450_orphanet_275 Severe combined immunodeficiency due to DCLRE1C deficiency MONDO:MONDO:0011225,MedGen:C1865370,OMIM:602450,Orphanet:275 3 3 1.0000 condition_record_support_limited 20 0 1 Severe_combined_immunodeficiency_due_to_DCLRE1C_deficiency 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1A mondo_mondo_0007617_medgen_c3281201_omim_135900_orphanet_1465 Coffin-Siris syndrome 1 MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900,Orphanet:1465 3 3 1.0000 condition_record_support_limited 20 0 3 Coffin-Siris_syndrome_1 141 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1A mondo_mondo_0015452_medgen_c0265338_omim_ps135900_orphanet_1465 Coffin-Siris syndrome MONDO:MONDO:0015452,MedGen:C0265338,OMIM:PS135900,Orphanet:1465 3 3 1.0000 condition_record_support_limited 20 0 1 Coffin-Siris_syndrome 141 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARHGAP6 human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Amelogenesis imperfecta Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 3 3 1.0000 condition_record_support_limited 20 0 0 Amelogenesis_imperfecta 19 low_record_burden_interpretation_limited low_record_burden_gene ARHGAP35 condition_not_provided condition not provided MedGen:CN169374 3 3 1.0000 condition_record_support_limited 20 3 0 not_specified 17 low_record_burden_interpretation_limited low_record_burden_gene ARHGAP31 mondo_mondo_0024506_medgen_c4551482_omim_100300_orphanet_974 Adams-Oliver syndrome 1 MONDO:MONDO:0024506,MedGen:C4551482,OMIM:100300,Orphanet:974 3 3 1.0000 condition_record_support_limited 20 0 0 Adams-Oliver_syndrome_1 4 low_record_burden_interpretation_limited low_record_burden_gene ARG1 arg1_related_disorder ARG1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 ARG1-related_disorder 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARFGEF1 developmental_delay_impaired_speech_behavioral_abnormalities_and_seizures DEVELOPMENTAL DELAY, IMPAIRED SPEECH, BEHAVIORAL ABNORMALITIES, AND SEIZURES . 3 3 1.0000 condition_record_support_limited 20 0 2 DEVELOPMENTAL_DELAY,_IMPAIRED_SPEECH,_BEHAVIORAL_ABNORMALITIES,_AND_SEIZURES 79 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARFGEF1 arfgef1_related_disorder ARFGEF1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 ARFGEF1-related_disorder 79 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARF3 condition_not_provided condition not provided .|MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 See_cases|not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene ARF3 human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 3 3 1.0000 condition_record_support_limited 20 0 3 Scoliosis 10 low_record_burden_interpretation_limited low_record_burden_gene APOE condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOE mondo_mondo_0012725_medgen_c2673196_omim_611771_orphanet_329481 Lipoprotein glomerulopathy MONDO:MONDO:0012725,MedGen:C2673196,OMIM:611771,Orphanet:329481 3 3 1.0000 condition_record_support_limited 20 0 1 Lipoprotein_glomerulopathy 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOE mondo_mondo_0005439_medgen_c0020445_omim_ps143890 Familial hypercholesterolemia MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 3 3 1.0000 condition_record_support_limited 20 0 2 Familial_hypercholesterolemia 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOC2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 3 3 1.0000 condition_record_support_limited 20 0 2 Cardiovascular_phenotype 18 low_record_burden_interpretation_limited low_record_burden_gene APOA1 mondo_mondo_0007099_medgen_c0268389_omim_105200_orphanet_85450 Familial visceral amyloidosis, Ostertag type MONDO:MONDO:0007099,MedGen:C0268389,OMIM:105200,Orphanet:85450 3 3 1.0000 condition_record_support_limited 20 0 2 Familial_visceral_amyloidosis,_Ostertag_type 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOA1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 3 3 1.0000 condition_record_support_limited 20 0 2 Cardiovascular_phenotype 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APC2 apc2_related_disorder APC2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 0 APC2-related_disorder 24 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture APC mondo_mondo_0000488_medgen_cn068444 Periampullary adenoma MONDO:MONDO:0000488,MedGen:CN068444 3 3 1.0000 condition_record_support_limited 20 0 3 Periampullary_adenoma 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC mondo_mondo_0023113_medgen_cn280943 Familial colorectal cancer MONDO:MONDO:0023113,MedGen:CN280943 3 3 1.0000 condition_record_support_limited 20 0 3 Familial_colorectal_cancer 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control AP5B1 macular_dystrophy_with_or_without_extraocular_features Macular dystrophy with or without extraocular features . 3 3 1.0000 condition_record_support_limited 20 0 0 Macular_dystrophy_with_or_without_extraocular_features 4 low_record_burden_interpretation_limited low_record_burden_gene AP4E1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP2S1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene AP2S1 mondo_mondo_0010926_medgen_c1833372_omim_600740_orphanet_101050_orphanet_405 Familial hypocalciuric hypercalcemia 3 MONDO:MONDO:0010926,MedGen:C1833372,OMIM:600740,Orphanet:101050,Orphanet:405 3 3 1.0000 condition_record_support_limited 20 0 3 Familial_hypocalciuric_hypercalcemia_3 3 low_record_burden_interpretation_limited low_record_burden_gene AP2S1 ap2s1_related_disorder AP2S1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 AP2S1-related_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene ANO5 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 3 3 1.0000 condition_record_support_limited 20 0 3 Abnormality_of_the_musculature 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO3 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene ANKS6 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANKRD11 mondo_mondo_0032681_medgen_c5193033_omim_618331 Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis MONDO:MONDO:0032681,MedGen:C5193033,OMIM:618331 3 3 1.0000 condition_record_support_limited 20 0 1 Encephalopathy,_progressive,_early-onset,_with_episodic_rhabdomyolysis 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANK2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANK1 human_phenotype_ontology_hp_0004444_human_phenotype_ontology_hp_0004816_medgen_c0553720 Spherocytosis Human_Phenotype_Ontology:HP:0004444,Human_Phenotype_Ontology:HP:0004816,MedGen:C0553720 3 3 1.0000 condition_record_support_limited 20 0 0 Spherocytosis 497 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANK1 medgen_c4017275 SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE MedGen:C4017275 3 3 1.0000 condition_record_support_limited 20 0 1 SPHEROCYTOSIS,_TYPE_1,_AUTOSOMAL_RECESSIVE 497 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANAPC1 mondo_mondo_0016368_medgen_c5231433_omim_618625_orphanet_221008 Rothmund-Thomson syndrome type 1 MONDO:MONDO:0016368,MedGen:C5231433,OMIM:618625,Orphanet:221008 3 3 1.0000 condition_record_support_limited 20 0 0 Rothmund-Thomson_syndrome_type_1 3 low_record_burden_interpretation_limited low_record_burden_gene AMT mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMPD3 medgen_c2752073_omim_612874_orphanet_45 Erythrocyte AMP deaminase deficiency MedGen:C2752073,OMIM:612874,Orphanet:45 3 3 1.0000 condition_record_support_limited 20 0 1 Erythrocyte_AMP_deaminase_deficiency 3 low_record_burden_interpretation_limited low_record_burden_gene AMPD2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMN condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMER1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMER1 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 3 3 1.0000 condition_record_support_limited 20 0 1 Colorectal_cancer 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMELX human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Amelogenesis imperfecta Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 3 3 1.0000 condition_record_support_limited 20 0 0 Amelogenesis_imperfecta 19 low_record_burden_interpretation_limited low_record_burden_gene ALX1 mondo_mondo_0013271_medgen_c3150706_omim_613456_orphanet_306542 Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome MONDO:MONDO:0013271,MedGen:C3150706,OMIM:613456,Orphanet:306542 3 3 1.0000 condition_record_support_limited 20 0 0 Frontonasal_dysplasia_-_severe_microphthalmia_-_severe_facial_clefting_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene ALS2 human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Amyotrophic lateral sclerosis Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 3 3 1.0000 condition_record_support_limited 20 0 2 Amyotrophic_lateral_sclerosis 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALPK1 mondo_mondo_0013999_medgen_c4749914_omim_614979_orphanet_313800 Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome MONDO:MONDO:0013999,MedGen:C4749914,OMIM:614979,Orphanet:313800 3 3 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy,_optic_nerve_edema,_splenomegaly,_anhidrosis,_and_migraine_headache_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene ALOXE3 aloxe3_related_disorder ALOXE3-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 ALOXE3-related_disorder 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOX12B mondo_mondo_0013803_medgen_c3281200_omim_614561_orphanet_542310 Leukoencephalopathy with calcifications and cysts MONDO:MONDO:0013803,MedGen:C3281200,OMIM:614561,Orphanet:542310 3 3 1.0000 condition_record_support_limited 20 0 0 Leukoencephalopathy_with_calcifications_and_cysts 150 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG6 alg6_related_disorder ALG6-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 ALG6-related_disorder 149 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG13 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene ALG12 alg12_related_disorder ALG12-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 ALG12-related_disorder 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG1 alg1_related_disorder ALG1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 ALG1-related_disorder 120 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDOB mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 Glycogen storage disease MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 3 3 1.0000 condition_record_support_limited 20 0 2 Glycogen_storage_disease 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH7A1 mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 3 3 1.0000 condition_record_support_limited 20 0 1 Epilepsy 184 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH5A1 aldh5a1_related_disorder ALDH5A1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 ALDH5A1-related_disorder 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH1A3 mondo_mondo_0016764_medgen_c5679828_orphanet_2542 Isolated anophthalmia-microphthalmia syndrome MONDO:MONDO:0016764,MedGen:C5679828,Orphanet:2542 3 3 1.0000 condition_record_support_limited 20 0 0 Isolated_anophthalmia-microphthalmia_syndrome 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH18A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH18A1 aldh18a1_related_disorder ALDH18A1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 ALDH18A1-related_disorder 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AKT1 mondo_mondo_0014048_medgen_c3554519_omim_615109_orphanet_201 Cowden syndrome 6 MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109,Orphanet:201 3 3 1.0000 condition_record_support_limited 20 0 1 Cowden_syndrome_6 4 low_record_burden_interpretation_limited low_record_burden_gene AK9 mondo_mondo_0958206_medgen_c5882752_omim_620705 Spermatogenic failure 89 MONDO:MONDO:0958206,MedGen:C5882752,OMIM:620705 3 3 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_89 3 low_record_burden_interpretation_limited low_record_burden_gene AK2 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 2 not_provided 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIPL1 aipl1_related_disorder AIPL1-related disorder MedGen:CN239169 3 3 1.0000 condition_record_support_limited 20 0 3 AIPL1-related_disorder 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIMP2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 7 low_record_burden_interpretation_limited low_record_burden_gene AIMP1 aimp1_related_disorder AIMP1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 AIMP1-related_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHR mondo_mondo_0975805_medgen_c5975405_omim_620958 Foveal hypoplasia 3 MONDO:MONDO:0975805,MedGen:C5975405,OMIM:620958 3 3 1.0000 condition_record_support_limited 20 0 1 Foveal_hypoplasia_3 9 low_record_burden_interpretation_limited low_record_burden_gene AHI1 human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Rod-cone dystrophy Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 3 3 1.0000 condition_record_support_limited 20 0 3 Rod-cone_dystrophy 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHI1 mondo_mondo_0016364_medgen_c4274118_orphanet_220493 Joubert syndrome with ocular defect MONDO:MONDO:0016364,MedGen:C4274118,Orphanet:220493 3 3 1.0000 condition_record_support_limited 20 0 1 Joubert_syndrome_with_ocular_defect 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHDC1 human_phenotype_ontology_hp_0010535_mondo_mondo_0005296_medgen_c0037315 Sleep apnea Human_Phenotype_Ontology:HP:0010535,MONDO:MONDO:0005296,MedGen:C0037315 3 3 1.0000 condition_record_support_limited 20 0 3 Sleep_apnea 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHDC1 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 3 3 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_abnormality 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHDC1 human_phenotype_ontology_hp_0001319_human_phenotype_ontology_hp_0008976_medgen_c2267233 Neonatal hypotonia Human_Phenotype_Ontology:HP:0001319,Human_Phenotype_Ontology:HP:0008976,MedGen:C2267233 3 3 1.0000 condition_record_support_limited 20 0 3 Neonatal_hypotonia 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHDC1 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 3 3 1.0000 condition_record_support_limited 20 0 3 Hypotonia 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHDC1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 3 3 1.0000 condition_record_support_limited 20 0 3 Global_developmental_delay 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHDC1 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 3 3 1.0000 condition_record_support_limited 20 0 3 Delayed_speech_and_language_development 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHDC1 ahdc1_related_disorder AHDC1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 1 AHDC1-related_disorder 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGXT mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGTPBP1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 3 3 1.0000 condition_record_support_limited 20 0 3 Global_developmental_delay 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGTPBP1 human_phenotype_ontology_hp_0006857_human_phenotype_ontology_hp_0007360_human_phenotype_ontology_hp_0007368_medgen_c3279222 Aplasia/Hypoplasia of the cerebellum Human_Phenotype_Ontology:HP:0006857,Human_Phenotype_Ontology:HP:0007360,Human_Phenotype_Ontology:HP:0007368,MedGen:C3279222 3 3 1.0000 condition_record_support_limited 20 0 3 Aplasia/Hypoplasia_of_the_cerebellum 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGL human_phenotype_ontology_hp_0008942_medgen_c3807306 Acute rhabdomyolysis Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 3 3 1.0000 condition_record_support_limited 20 0 2 Acute_rhabdomyolysis 624 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGK mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFF2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene ADSL mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 3 Inborn_genetic_diseases 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRV1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 3 3 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 650 large_gene_or_donor_burden_stress_case donor_burden_stress ADGRV1 mondo_mondo_0005579_medgen_c0270850_omim_600669_omim_ps600669 Idiopathic generalized epilepsy MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669 3 3 1.0000 condition_record_support_limited 20 0 0 Idiopathic_generalized_epilepsy 650 large_gene_or_donor_burden_stress_case donor_burden_stress ADGRL1 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRG6 human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 3 3 1.0000 condition_record_support_limited 20 0 3 Arthrogryposis_multiplex_congenita 8 low_record_burden_interpretation_limited low_record_burden_gene ADCY6 mondo_mondo_0014570_medgen_c4225385_omim_616287 Lethal congenital contracture syndrome 8 MONDO:MONDO:0014570,MedGen:C4225385,OMIM:616287 3 3 1.0000 condition_record_support_limited 20 0 0 Lethal_congenital_contracture_syndrome_8 3 low_record_burden_interpretation_limited low_record_burden_gene ADCY5 mondo_mondo_0030625_medgen_c5562036_omim_619647 Dyskinesia with orofacial involvement, autosomal recessive MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647 3 3 1.0000 condition_record_support_limited 20 0 3 Dyskinesia_with_orofacial_involvement,_autosomal_recessive 57 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture ADAMTS3 mondo_mondo_0032564_medgen_c4748408_omim_618154 Hennekam lymphangiectasia-lymphedema syndrome 3 MONDO:MONDO:0032564,MedGen:C4748408,OMIM:618154 3 3 1.0000 condition_record_support_limited 20 0 1 Hennekam_lymphangiectasia-lymphedema_syndrome_3 3 low_record_burden_interpretation_limited low_record_burden_gene ADAMTS19 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene ACVRL1 mondo_mondo_0010602_medgen_c0019069_omim_306700_orphanet_98878 Hereditary factor VIII deficiency disease MONDO:MONDO:0010602,MedGen:C0019069,OMIM:306700,Orphanet:98878 3 3 1.0000 condition_record_support_limited 20 0 2 Hereditary_factor_VIII_deficiency_disease 546 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTN2 mondo_mondo_0000591_medgen_cn305117 Intrinsic cardiomyopathy MONDO:MONDO:0000591,MedGen:CN305117 3 3 1.0000 condition_record_support_limited 20 0 0 Intrinsic_cardiomyopathy 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTN2 mondo_mondo_0800347_medgen_c4225649 Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction MONDO:MONDO:0800347,MedGen:C4225649 3 3 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy,_familial_hypertrophic,_23,_with_or_without_ventricular_noncompaction 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTL9 mondo_mondo_0030989_medgen_c5543253_omim_619258 Spermatogenic failure 53 MONDO:MONDO:0030989,MedGen:C5543253,OMIM:619258 3 3 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_53 3 low_record_burden_interpretation_limited low_record_burden_gene ACTG2 actg2_related_disorder ACTG2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 ACTG2-related_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTG1 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 3 3 1.0000 condition_record_support_limited 20 0 2 Rare_genetic_deafness 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTG1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTC1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 3 3 1.0000 condition_record_support_limited 20 0 3 Cardiovascular_phenotype 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 3 3 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB mondo_mondo_0011500_medgen_c1858042_omim_604919_orphanet_64755 Becker nevus syndrome MONDO:MONDO:0011500,MedGen:C1858042,OMIM:604919,Orphanet:64755 3 3 1.0000 condition_record_support_limited 20 0 2 Becker_nevus_syndrome 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA2 familial_aortopathy Familial aortopathy MedGen:CN078214 3 3 1.0000 condition_record_support_limited 20 0 3 Familial_aortopathy 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 3 3 1.0000 condition_record_support_limited 20 0 2 Cardiovascular_phenotype 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA2 acta2_related_disorder ACTA2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 ACTA2-related_disorder 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 nemaline_myopathy_3_autosomal_dominant_or_recessive Nemaline myopathy 3, autosomal dominant or recessive MedGen:CN187050 3 3 1.0000 condition_record_support_limited 20 0 1 Nemaline_myopathy_3,_autosomal_dominant_or_recessive 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 3 3 1.0000 condition_record_support_limited 20 0 1 Myopathy 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACSL4 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene ACP5 condition_not_provided condition not provided MedGen:C3661900 3 3 1.0000 condition_record_support_limited 20 3 3 not_provided 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACO2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACO2 aco2_related_disorder ACO2-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 2 ACO2-related_disorder 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACBD6 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 3 3 1.0000 condition_record_support_limited 20 3 1 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene ACBD5 mondo_mondo_0030026_medgen_c5394315_omim_618863 Retinal dystrophy with leukodystrophy MONDO:MONDO:0030026,MedGen:C5394315,OMIM:618863 3 3 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy_with_leukodystrophy 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACAT1 acat1_related_disorder ACAT1-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 ACAT1-related_disorder 212 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACAN monogenic_short_statue Monogenic short statue . 3 3 1.0000 condition_record_support_limited 20 0 0 Monogenic_short_statue 203 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ACADVL human_phenotype_ontology_hp_0008942_medgen_c3807306 Acute rhabdomyolysis Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 3 3 1.0000 condition_record_support_limited 20 0 3 Acute_rhabdomyolysis 513 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACADSB acadsb_related_disorder ACADSB-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 ACADSB-related_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABL1 human_phenotype_ontology_hp_0005506_human_phenotype_ontology_hp_0005544_mondo_mondo_0011996_mesh_d015464_medgen_c0279543_omim_608232_orphanet_521 Chronic myelogenous leukemia, BCR-ABL1 positive Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521 3 3 1.0000 condition_record_support_limited 20 0 1 Chronic_myelogenous_leukemia,_BCR-ABL1_positive 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC9 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 3 3 1.0000 condition_record_support_limited 20 0 2 Cardiovascular_phenotype 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC9 abcc9_related_disorder ABCC9-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 ABCC9-related_disorder 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 mondo_mondo_0015967_medgen_c3888631_orphanet_183625 Monogenic diabetes MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625 3 3 1.0000 condition_record_support_limited 20 0 3 Monogenic_diabetes 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC6 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 3 3 1.0000 condition_record_support_limited 20 0 3 Retinal_dystrophy 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB6 mondo_mondo_0013783_medgen_c3281027_omim_614497_orphanet_98938 Microphthalmia, isolated, with coloboma 7 MONDO:MONDO:0013783,MedGen:C3281027,OMIM:614497,Orphanet:98938 3 3 1.0000 condition_record_support_limited 20 0 1 Microphthalmia,_isolated,_with_coloboma_7 10 low_record_burden_interpretation_limited low_record_burden_gene ABCA5 mondo_mondo_0007610_medgen_c1851120_omim_135400_orphanet_2026 Gingival fibromatosis-hypertrichosis syndrome MONDO:MONDO:0007610,MedGen:C1851120,OMIM:135400,Orphanet:2026 3 3 1.0000 condition_record_support_limited 20 0 0 Gingival_fibromatosis-hypertrichosis_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene ABCA4 human_phenotype_ontology_hp_0000608_human_phenotype_ontology_hp_0007694_mondo_mondo_0003004_medgen_c0024437 Macular degeneration Human_Phenotype_Ontology:HP:0000608,Human_Phenotype_Ontology:HP:0007694,MONDO:MONDO:0003004,MedGen:C0024437 3 3 1.0000 condition_record_support_limited 20 0 3 Macular_degeneration 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 generalized_choriocapillaris_dystrophy Generalized choriocapillaris dystrophy . 3 3 1.0000 condition_record_support_limited 20 0 2 Generalized_choriocapillaris_dystrophy 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 3 3 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_eye 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA3 mondo_mondo_0800497_medgen_c5561926_omim_178500_orphanet_2032_orphanet_79126 Interstitial lung disease 2 MONDO:MONDO:0800497,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126 3 3 1.0000 condition_record_support_limited 20 0 2 Interstitial_lung_disease_2 135 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ABCA12 human_phenotype_ontology_hp_0000955_human_phenotype_ontology_hp_0007547_human_phenotype_ontology_hp_0008064_mondo_mondo_0019269_medgen_c0020757_orphanet_79354 Ichthyosis Human_Phenotype_Ontology:HP:0000955,Human_Phenotype_Ontology:HP:0007547,Human_Phenotype_Ontology:HP:0008064,MONDO:MONDO:0019269,MedGen:C0020757,Orphanet:79354 3 3 1.0000 condition_record_support_limited 20 0 1 Ichthyosis 206 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA1 abca1_related_disorder ABCA1-related disorder MedGen:CN239173 3 3 1.0000 condition_record_support_limited 20 0 3 ABCA1-related_disorder 76 large_gene_or_donor_burden_stress_case donor_burden_stress AARS2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 3 3 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AARS1 mondo_mondo_0030517_medgen_c5562057_omim_619691 Trichothiodystrophy 8, nonphotosensitive MONDO:MONDO:0030517,MedGen:C5562057,OMIM:619691 3 3 1.0000 condition_record_support_limited 20 0 0 Trichothiodystrophy_8,_nonphotosensitive 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AAAS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 3 3 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AAAS aaas_related_disorder AAAS-related disorder . 3 3 1.0000 condition_record_support_limited 20 0 3 AAAS-related_disorder 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZSWIM7 mondo_mondo_0030787_medgen_c5676963_omim_619831 Spermatogenic failure 71 MONDO:MONDO:0030787,MedGen:C5676963,OMIM:619831 2 2 1.0000 condition_record_support_limited 20 0 1 Spermatogenic_failure_71 4 low_record_burden_interpretation_limited low_record_burden_gene ZSWIM7 mondo_mondo_0030736_medgen_c5676966_omim_619834 Ovarian dysgenesis 10 MONDO:MONDO:0030736,MedGen:C5676966,OMIM:619834 2 2 1.0000 condition_record_support_limited 20 0 1 Ovarian_dysgenesis_10 4 low_record_burden_interpretation_limited low_record_burden_gene ZSWIM6 mondo_mondo_0060642_medgen_c4693405_omim_617865 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features MONDO:MONDO:0060642,MedGen:C4693405,OMIM:617865 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_movement_abnormalities,_abnormal_gait,_and_autistic_features 5 low_record_burden_interpretation_limited low_record_burden_gene ZSWIM6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 5 low_record_burden_interpretation_limited low_record_burden_gene ZSCAN10 zscan10_deficiency ZSCAN10 Deficiency . 2 2 1.0000 condition_record_support_limited 20 0 2 ZSCAN10_Deficiency 5 low_record_burden_interpretation_limited low_record_burden_gene ZSCAN10 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 2 2 1.0000 condition_record_support_limited 20 0 2 Sensorineural_hearing_loss_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene ZSCAN10 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 5 low_record_burden_interpretation_limited low_record_burden_gene ZRSR2 mondo_mondo_0975827_medgen_c5974875_omim_301132 Orofaciodigital syndrome 21 MONDO:MONDO:0975827,MedGen:C5974875,OMIM:301132 2 2 1.0000 condition_record_support_limited 20 0 1 Orofaciodigital_syndrome_21 6 low_record_burden_interpretation_limited low_record_burden_gene ZP1 zp1_related_disorder ZP1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 ZP1-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene ZNHIT3 mondo_mondo_0009841_medgen_c1850055_omim_260565_orphanet_2836_orphanet_99807 PEHO syndrome MONDO:MONDO:0009841,MedGen:C1850055,OMIM:260565,Orphanet:2836,Orphanet:99807 2 2 1.0000 condition_record_support_limited 20 0 0 PEHO_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene ZNFX1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene ZNF668 marked_facial_dysmorphism marked facial dysmorphism . 2 2 1.0000 condition_record_support_limited 20 0 2 marked_facial_dysmorphism 3 low_record_burden_interpretation_limited low_record_burden_gene ZNF668 human_phenotype_ontology_hp_0000253_medgen_c1850456 Progressive microcephaly Human_Phenotype_Ontology:HP:0000253,MedGen:C1850456 2 2 1.0000 condition_record_support_limited 20 0 2 Progressive_microcephaly 3 low_record_burden_interpretation_limited low_record_burden_gene ZNF668 human_phenotype_ontology_hp_0012736_medgen_c3553450 Profound global developmental delay Human_Phenotype_Ontology:HP:0012736,MedGen:C3553450 2 2 1.0000 condition_record_support_limited 20 0 2 Profound_global_developmental_delay 3 low_record_burden_interpretation_limited low_record_burden_gene ZNF668 mondo_mondo_0859350_medgen_c5774288_omim_620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies MONDO:MONDO:0859350,MedGen:C5774288,OMIM:620194 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_poor_growth,_large_ears,_and_dysmorphic_facies 3 low_record_burden_interpretation_limited low_record_burden_gene ZNF668 human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 2 2 1.0000 condition_record_support_limited 20 0 2 Failure_to_thrive 3 low_record_burden_interpretation_limited low_record_burden_gene ZNF462 mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 2 2 1.0000 condition_record_support_limited 20 0 0 Familial_cancer_of_breast 84 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZNF454 human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Congenital stationary night blindness Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_stationary_night_blindness 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF423 mondo_mondo_0800363_medgen_c3553846 Joubert syndrome 19 MONDO:MONDO:0800363,MedGen:C3553846 2 2 1.0000 condition_record_support_limited 20 0 0 Joubert_syndrome_19 4 low_record_burden_interpretation_limited low_record_burden_gene ZNF407 mondo_mondo_0859198_medgen_c5561998_omim_619557 Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies MONDO:MONDO:0859198,MedGen:C5561998,OMIM:619557 2 2 1.0000 condition_record_support_limited 20 0 1 Short_stature,_impaired_intellectual_development,_microcephaly,_hypotonia,_and_ocular_anomalies 2 low_record_burden_interpretation_limited low_record_burden_gene ZNF148 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZMYND8 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene ZMPSTE24 zmpste24_related_disorder ZMPSTE24-related disorder MedGen:CN239425 2 2 1.0000 condition_record_support_limited 20 0 2 ZMPSTE24-related_disorder 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZMIZ1 zmiz1_related_disorder ZMIZ1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 ZMIZ1-related_disorder 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZIC3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 41 compact_adjacent_exon_block_opportunity local_compact_architecture ZIC3 zic3_related_disorder ZIC3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 ZIC3-related_disorder 41 compact_adjacent_exon_block_opportunity local_compact_architecture ZIC2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 51 compact_adjacent_exon_block_opportunity local_compact_architecture ZIC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 13 low_record_burden_interpretation_limited low_record_burden_gene ZIC1 mondo_mondo_0014705_medgen_c4225269_omim_616602_orphanet_672985 Craniosynostosis 6 MONDO:MONDO:0014705,MedGen:C4225269,OMIM:616602,Orphanet:672985 2 2 1.0000 condition_record_support_limited 20 0 0 Craniosynostosis_6 13 low_record_burden_interpretation_limited low_record_burden_gene ZFYVE26 rdh12_related_disorder RDH12-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 RDH12-related_disorder 454 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZFYVE26 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_eye 454 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZFPM2 zfpm2_related_disorder ZFPM2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 ZFPM2-related_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZFPM2 human_phenotype_ontology_hp_0001719_mondo_mondo_0018089_medgen_c0013069_orphanet_3426 Double outlet right ventricle Human_Phenotype_Ontology:HP:0001719,MONDO:MONDO:0018089,MedGen:C0013069,Orphanet:3426 2 2 1.0000 condition_record_support_limited 20 0 0 Double_outlet_right_ventricle 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZFP36L2 mondo_mondo_0859330_medgen_c5774268_omim_620154 Oocyte maturation defect 13 MONDO:MONDO:0859330,MedGen:C5774268,OMIM:620154 2 2 1.0000 condition_record_support_limited 20 0 0 Oocyte_maturation_defect_13 2 low_record_burden_interpretation_limited low_record_burden_gene ZFC3H1 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 1.0000 condition_record_support_limited 20 0 0 Short_stature 2 low_record_burden_interpretation_limited low_record_burden_gene ZEB2 marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 2 2 1.0000 condition_record_support_limited 20 0 0 Marfanoid_habitus_and_intellectual_disability 389 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZEB1 human_phenotype_ontology_hp_0007915_mondo_mondo_0020364_medgen_c0339284_omim_ps122000_orphanet_98973 Posterior polymorphous corneal dystrophy Human_Phenotype_Ontology:HP:0007915,MONDO:MONDO:0020364,MedGen:C0339284,OMIM:PS122000,Orphanet:98973 2 2 1.0000 condition_record_support_limited 20 0 1 Posterior_polymorphous_corneal_dystrophy 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZEB1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZDHHC9 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZDHHC16 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 2 low_record_burden_interpretation_limited low_record_burden_gene ZC4H2 mondo_mondo_0025445_medgen_cn294724_omim_ps314580 Wieacker-Wolff syndrome (spectrum) MONDO:MONDO:0025445,MedGen:CN294724,OMIM:PS314580 2 2 1.0000 condition_record_support_limited 20 0 2 Wieacker-Wolff_syndrome_(spectrum) 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB25 human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 2 2 1.0000 condition_record_support_limited 20 0 0 Severe_combined_immunodeficiency_disease 7 low_record_burden_interpretation_limited low_record_burden_gene ZBTB20 zbtb20_related_disorder ZBTB20-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 ZBTB20-related_disorder 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB20 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZAP70 human_phenotype_ontology_hp_0005387_mondo_mondo_0015131_medgen_c2711630_orphanet_101972 Combined immunodeficiency Human_Phenotype_Ontology:HP:0005387,MONDO:MONDO:0015131,MedGen:C2711630,Orphanet:101972 2 2 1.0000 condition_record_support_limited 20 0 1 Combined_immunodeficiency 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YY1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YY1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YWHAG ywhag_related_disorder YWHAG-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 YWHAG-related_disorder 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YWHAG human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 1 Seizure 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YARS2 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_disease 37 compact_adjacent_exon_block_opportunity local_compact_architecture YARS1 mondo_mondo_0024189_medgen_cn228418_omim_ps616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset MONDO:MONDO:0024189,MedGen:CN228418,OMIM:PS616263 2 2 1.0000 condition_record_support_limited 20 0 0 Neurologic,_endocrine,_and_pancreatic_disease,_multisystem,_infantile-onset 15 low_record_burden_interpretation_limited low_record_burden_gene YARS1 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 2 2 1.0000 condition_record_support_limited 20 0 2 Charcot-Marie-Tooth_disease 15 low_record_burden_interpretation_limited low_record_burden_gene XYLT2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 15 low_record_burden_interpretation_limited low_record_burden_gene XRCC4 xrcc4_related_disorder XRCC4-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 XRCC4-related_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XRCC2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene XPR1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene XPC xpc_related_disorder XPC-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 XPC-related_disorder 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XPA mondo_mondo_0019600_medgen_c0043346_omim_ps278700_orphanet_910 Xeroderma pigmentosum MONDO:MONDO:0019600,MedGen:C0043346,OMIM:PS278700,Orphanet:910 2 2 1.0000 condition_record_support_limited 20 0 2 Xeroderma_pigmentosum 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XPA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XIAP xiap_related_disorder XIAP-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 XIAP-related_disorder 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XIAP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WWOX human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WWOX human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 2 2 1.0000 condition_record_support_limited 20 0 2 Epileptic_encephalopathy 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WWOX early_infantile_epileptic_encephalopathy_autosomal_recessive Early Infantile Epileptic Encephalopathy, Autosomal Recessive . 2 2 1.0000 condition_record_support_limited 20 0 2 Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WT1 wt1_related_wilms_tumor WT1-related Wilms tumor . 2 2 1.0000 condition_record_support_limited 20 0 2 WT1-related_Wilms_tumor 153 compact_adjacent_exon_block_opportunity local_compact_architecture WT1 human_phenotype_ontology_hp_0000112_mondo_mondo_0005240_medgen_c0022658 Kidney disorder Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658 2 2 1.0000 condition_record_support_limited 20 0 2 Kidney_disorder 153 compact_adjacent_exon_block_opportunity local_compact_architecture WRN wrn_related_disorder WRN-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 WRN-related_disorder 421 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WNT9B human_phenotype_ontology_hp_0000106_human_phenotype_ontology_hp_0001918_human_phenotype_ontology_hp_0008671_human_phenotype_ontology_hp_0012622_mondo_mondo_0005300_medgen_c1561643 Chronic kidney disease Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643 2 2 1.0000 condition_record_support_limited 20 0 2 Chronic_kidney_disease 2 low_record_burden_interpretation_limited low_record_burden_gene WNT4 mondo_mondo_0012734_medgen_c2678492_omim_611812_orphanet_139466 SERKAL syndrome MONDO:MONDO:0012734,MedGen:C2678492,OMIM:611812,Orphanet:139466 2 2 1.0000 condition_record_support_limited 20 0 0 SERKAL_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene WNT2B condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene WNT10B mondo_mondo_0014901_medgen_c4310730_omim_617073_orphanet_99798 Tooth agenesis, selective, 8 MONDO:MONDO:0014901,MedGen:C4310730,OMIM:617073,Orphanet:99798 2 2 1.0000 condition_record_support_limited 20 0 0 Tooth_agenesis,_selective,_8 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WNT10A mondo_mondo_0100358_medgen_cn305516 Ectodermal dysplasia WNT10A related MONDO:MONDO:0100358,MedGen:CN305516 2 2 1.0000 condition_record_support_limited 20 0 2 Ectodermal_dysplasia_WNT10A_related 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WNT10A human_phenotype_ontology_hp_0000968_human_phenotype_ontology_hp_0007436_human_phenotype_ontology_hp_0007615_mondo_mondo_0019287_medgen_c0013575_omim_ps305100_orphanet_79373 Ectodermal dysplasia Human_Phenotype_Ontology:HP:0000968,Human_Phenotype_Ontology:HP:0007436,Human_Phenotype_Ontology:HP:0007615,MONDO:MONDO:0019287,MedGen:C0013575,OMIM:PS305100,Orphanet:79373 2 2 1.0000 condition_record_support_limited 20 0 2 Ectodermal_dysplasia 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WNT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WNK3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene WIPI2 mondo_mondo_0032759_medgen_c5193105_omim_618453 Intellectual developmental disorder with short stature and variable skeletal anomalies MONDO:MONDO:0032759,MedGen:C5193105,OMIM:618453 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder_with_short_stature_and_variable_skeletal_anomalies 2 low_record_burden_interpretation_limited low_record_burden_gene WHRN medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 2 2 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_deafness 55 compact_adjacent_exon_block_opportunity local_compact_architecture WFS1 human_phenotype_ontology_hp_0001138_human_phenotype_ontology_hp_0007806_mondo_mondo_0002135_medgen_c3887709 Optic neuropathy Human_Phenotype_Ontology:HP:0001138,Human_Phenotype_Ontology:HP:0007806,MONDO:MONDO:0002135,MedGen:C3887709 2 2 1.0000 condition_record_support_limited 20 0 2 Optic_neuropathy 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WFS1 autosomal_dominant_and_autosomal_recessive_wfs1_related_disorders Autosomal dominant and autosomal recessive WFS1-related disorders . 2 2 1.0000 condition_record_support_limited 20 0 2 Autosomal_dominant_and_autosomal_recessive_WFS1-related_disorders 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WFS1 mondo_mondo_0021944_medgen_c1852271_omim_ps609129 Auditory neuropathy MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 2 2 1.0000 condition_record_support_limited 20 0 0 Auditory_neuropathy 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR81 wdr81_related_disorder WDR81-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 WDR81-related_disorder 36 compact_adjacent_exon_block_opportunity local_compact_architecture WDR81 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 36 compact_adjacent_exon_block_opportunity local_compact_architecture WDR73 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR72 renal_tubulopathies Renal tubulopathies . 2 2 1.0000 condition_record_support_limited 20 0 2 Renal_tubulopathies 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR72 mondo_mondo_0012700_medgen_c5436235_omim_611590_orphanet_93610 Renal tubular acidosis, distal, 4, with hemolytic anemia MONDO:MONDO:0012700,MedGen:C5436235,OMIM:611590,Orphanet:93610 2 2 1.0000 condition_record_support_limited 20 0 1 Renal_tubular_acidosis,_distal,_4,_with_hemolytic_anemia 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR62 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR62 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR5 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene WDR45 mondo_mondo_0010464_medgen_c3275487_omim_300864_orphanet_163961 X-linked cerebral-cerebellar-coloboma syndrome syndrome MONDO:MONDO:0010464,MedGen:C3275487,OMIM:300864,Orphanet:163961 2 2 1.0000 condition_record_support_limited 20 0 1 X-linked_cerebral-cerebellar-coloboma_syndrome_syndrome 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR45 wdr45_related_disorder WDR45-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 WDR45-related_disorder 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR45 mondo_mondo_0010698_medgen_c1839576_omim_311050_orphanet_98890 Optic atrophy 2 MONDO:MONDO:0010698,MedGen:C1839576,OMIM:311050,Orphanet:98890 2 2 1.0000 condition_record_support_limited 20 0 0 Optic_atrophy_2 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR45 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR4 wdr4_related_disorder WDR4-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 WDR4-related_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene WDR4 mondo_mondo_0032690_medgen_c5193042_omim_618346 Microcephaly, growth deficiency, seizures, and brain malformations MONDO:MONDO:0032690,MedGen:C5193042,OMIM:618346 2 2 1.0000 condition_record_support_limited 20 0 1 Microcephaly,_growth_deficiency,_seizures,_and_brain_malformations 18 low_record_burden_interpretation_limited low_record_burden_gene WDR37 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 9 low_record_burden_interpretation_limited low_record_burden_gene WDR26 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR19 mondo_mondo_0010024_medgen_c0432198_omim_269860_orphanet_93268 Type IV short rib polydactyly syndrome MONDO:MONDO:0010024,MedGen:C0432198,OMIM:269860,Orphanet:93268 2 2 1.0000 condition_record_support_limited 20 0 1 Type_IV_short_rib_polydactyly_syndrome 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR19 mondo_mondo_0009964_medgen_c1849437_omim_266920_orphanet_140969 Saldino-Mainzer syndrome MONDO:MONDO:0009964,MedGen:C1849437,OMIM:266920,Orphanet:140969 2 2 1.0000 condition_record_support_limited 20 0 2 Saldino-Mainzer_syndrome 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR19 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR19 mondo_mondo_0017842_medgen_c0403553_omim_ps266900_orphanet_3156 Renal dysplasia and retinal aplasia MONDO:MONDO:0017842,MedGen:C0403553,OMIM:PS266900,Orphanet:3156 2 2 1.0000 condition_record_support_limited 20 0 2 Renal_dysplasia_and_retinal_aplasia 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR19 mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 2 2 1.0000 condition_record_support_limited 20 0 2 Connective_tissue_disorder 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDPCP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WBP11 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WASHC5 washc5_related_disorder WASHC5-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 WASHC5-related_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WAS medgen_c1839164 THROMBOCYTOPENIA, X-LINKED, INTERMITTENT MedGen:C1839164 2 2 1.0000 condition_record_support_limited 20 0 0 THROMBOCYTOPENIA,_X-LINKED,_INTERMITTENT 206 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WARS2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 15 low_record_burden_interpretation_limited low_record_burden_gene WAC mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WAC mondo_mondo_0018760_medgen_c4225239_orphanet_466943 DeSanto-Shinawi syndrome MONDO:MONDO:0018760,MedGen:C4225239,Orphanet:466943 2 2 1.0000 condition_record_support_limited 20 0 0 DeSanto-Shinawi_syndrome 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VWA3B mondo_mondo_0014845_medgen_c4310781_omim_616948 Spinocerebellar ataxia, autosomal recessive 22 MONDO:MONDO:0014845,MedGen:C4310781,OMIM:616948 2 2 1.0000 condition_record_support_limited 20 0 0 Spinocerebellar_ataxia,_autosomal_recessive_22 2 low_record_burden_interpretation_limited low_record_burden_gene VSX2 vsx2_related_microphthalmia VSX2-related Microphthalmia . 2 2 1.0000 condition_record_support_limited 20 0 2 VSX2-related_Microphthalmia 52 compact_adjacent_exon_block_opportunity local_compact_architecture VSX2 medgen_c1864722 Microphthalmia, cataracts, and iris abnormalities MedGen:C1864722 2 2 1.0000 condition_record_support_limited 20 0 2 Microphthalmia,_cataracts,_and_iris_abnormalities 52 compact_adjacent_exon_block_opportunity local_compact_architecture VSX2 medgen_c5680330_orphanet_98555 Anophthalmia-microphthalmia syndrome MedGen:C5680330,Orphanet:98555 2 2 1.0000 condition_record_support_limited 20 0 2 Anophthalmia-microphthalmia_syndrome 52 compact_adjacent_exon_block_opportunity local_compact_architecture VRK1 mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 Pontoneocerebellar hypoplasia MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 2 2 1.0000 condition_record_support_limited 20 0 2 Pontoneocerebellar_hypoplasia 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VPS35 mondo_mondo_0013625_medgen_c3280133_omim_614203_orphanet_411602 Parkinson disease 17 MONDO:MONDO:0013625,MedGen:C3280133,OMIM:614203,Orphanet:411602 2 2 1.0000 condition_record_support_limited 20 0 1 Parkinson_disease_17 3 low_record_burden_interpretation_limited low_record_burden_gene VPS13B human_phenotype_ontology_hp_0200055_medgen_c0575802 Small hand Human_Phenotype_Ontology:HP:0200055,MedGen:C0575802 2 2 1.0000 condition_record_support_limited 20 0 2 Small_hand 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 1.0000 condition_record_support_limited 20 0 2 Short_stature 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B human_phenotype_ontology_hp_0001764_human_phenotype_ontology_hp_0001766_human_phenotype_ontology_hp_0001773_human_phenotype_ontology_hp_0001778_human_phenotype_ontology_hp_0008135_medgen_c1848673 Short foot Human_Phenotype_Ontology:HP:0001764,Human_Phenotype_Ontology:HP:0001766,Human_Phenotype_Ontology:HP:0001773,Human_Phenotype_Ontology:HP:0001778,Human_Phenotype_Ontology:HP:0008135,MedGen:C1848673 2 2 1.0000 condition_record_support_limited 20 0 2 Short_foot 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B human_phenotype_ontology_hp_0011107_mondo_mondo_0005318_medgen_c2937365 Recurrent aphthous stomatitis Human_Phenotype_Ontology:HP:0011107,MONDO:MONDO:0005318,MedGen:C2937365 2 2 1.0000 condition_record_support_limited 20 0 2 Recurrent_aphthous_stomatitis 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B human_phenotype_ontology_hp_0000529_human_phenotype_ontology_hp_0000560_human_phenotype_ontology_hp_0007735_human_phenotype_ontology_hp_0007753_human_phenotype_ontology_hp_0007967_medgen_c1839364 Progressive visual loss Human_Phenotype_Ontology:HP:0000529,Human_Phenotype_Ontology:HP:0000560,Human_Phenotype_Ontology:HP:0007735,Human_Phenotype_Ontology:HP:0007753,Human_Phenotype_Ontology:HP:0007967,MedGen:C1839364 2 2 1.0000 condition_record_support_limited 20 0 2 Progressive_visual_loss 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B human_phenotype_ontology_hp_0000543_human_phenotype_ontology_hp_0001148_human_phenotype_ontology_hp_0001484_medgen_c0554970 Optic disc pallor Human_Phenotype_Ontology:HP:0000543,Human_Phenotype_Ontology:HP:0001148,Human_Phenotype_Ontology:HP:0001484,MedGen:C0554970 2 2 1.0000 condition_record_support_limited 20 0 2 Optic_disc_pallor 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Myopia Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 2 2 1.0000 condition_record_support_limited 20 0 2 Myopia 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B human_phenotype_ontology_hp_0012712_medgen_c4022758 Mild hearing impairment Human_Phenotype_Ontology:HP:0012712,MedGen:C4022758 2 2 1.0000 condition_record_support_limited 20 0 2 Mild_hearing_impairment 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B human_phenotype_ontology_hp_0001380_human_phenotype_ontology_hp_0001383_human_phenotype_ontology_hp_0001388_human_phenotype_ontology_hp_0002771_medgen_c0086437 Joint laxity Human_Phenotype_Ontology:HP:0001380,Human_Phenotype_Ontology:HP:0001383,Human_Phenotype_Ontology:HP:0001388,Human_Phenotype_Ontology:HP:0002771,MedGen:C0086437 2 2 1.0000 condition_record_support_limited 20 0 2 Joint_laxity 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B human_phenotype_ontology_hp_0000569_human_phenotype_ontology_hp_0011003_medgen_c0271183 High myopia Human_Phenotype_Ontology:HP:0000569,Human_Phenotype_Ontology:HP:0011003,MedGen:C0271183 2 2 1.0000 condition_record_support_limited 20 0 2 High_myopia 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B human_phenotype_ontology_hp_0001875_human_phenotype_ontology_hp_0005515_human_phenotype_ontology_hp_0005533_mondo_mondo_0001475_medgen_c0853697 Decreased total neutrophil count Human_Phenotype_Ontology:HP:0001875,Human_Phenotype_Ontology:HP:0005515,Human_Phenotype_Ontology:HP:0005533,MONDO:MONDO:0001475,MedGen:C0853697 2 2 1.0000 condition_record_support_limited 20 0 2 Decreased_total_neutrophil_count 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_eye 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 494 large_gene_or_donor_burden_stress_case donor_burden_stress VPS11 mondo_mondo_0014732_medgen_c4225247_omim_616683_orphanet_466934 Hypomyelinating leukodystrophy 12 MONDO:MONDO:0014732,MedGen:C4225247,OMIM:616683,Orphanet:466934 2 2 1.0000 condition_record_support_limited 20 0 1 Hypomyelinating_leukodystrophy_12 3 low_record_burden_interpretation_limited low_record_burden_gene VMA12 congenital_disorders_of_glycosylation_type_ii Congenital disorders of glycosylation type II MedGen:CN234782 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_disorders_of_glycosylation_type_II 7 low_record_burden_interpretation_limited low_record_burden_gene VIPAS39 mondo_mondo_0008822_medgen_c1859722_omim_208085_orphanet_2697 Arthrogryposis, renal dysfunction, and cholestasis 1 MONDO:MONDO:0008822,MedGen:C1859722,OMIM:208085,Orphanet:2697 2 2 1.0000 condition_record_support_limited 20 0 0 Arthrogryposis,_renal_dysfunction,_and_cholestasis_1 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VIM mondo_mondo_0007286_medgen_c3805411_omim_116300_orphanet_91492_orphanet_98984_orphanet_98992 Cataract 30 MONDO:MONDO:0007286,MedGen:C3805411,OMIM:116300,Orphanet:91492,Orphanet:98984,Orphanet:98992 2 2 1.0000 condition_record_support_limited 20 0 2 Cataract_30 3 low_record_burden_interpretation_limited low_record_burden_gene VHL human_phenotype_ontology_hp_0011797_medgen_c1336839_omim_605074_orphanet_47044 Papillary renal cell carcinoma type 1 Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044 2 2 1.0000 condition_record_support_limited 20 0 2 Papillary_renal_cell_carcinoma_type_1 432 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control VHL human_phenotype_ontology_hp_0001737_medgen_c0030283 Pancreatic cysts Human_Phenotype_Ontology:HP:0001737,MedGen:C0030283 2 2 1.0000 condition_record_support_limited 20 0 2 Pancreatic_cysts 432 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control VHL inherited_phaeochromocytoma_and_paraganglioma_excluding_nf1 Inherited phaeochromocytoma and paraganglioma excluding NF1 . 2 2 1.0000 condition_record_support_limited 20 0 2 Inherited_phaeochromocytoma_and_paraganglioma_excluding_NF1 432 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control VHL human_phenotype_ontology_hp_0006761_human_phenotype_ontology_hp_0006880_mondo_mondo_0003901_medgen_c1332900 Cerebellar hemangioblastoma Human_Phenotype_Ontology:HP:0006761,Human_Phenotype_Ontology:HP:0006880,MONDO:MONDO:0003901,MedGen:C1332900 2 2 1.0000 condition_record_support_limited 20 0 2 Cerebellar_hemangioblastoma 432 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control VEGFC condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene VEGFC mondo_mondo_0014393_medgen_c4747769_omim_615907_orphanet_79452 Lymphatic malformation 4 MONDO:MONDO:0014393,MedGen:C4747769,OMIM:615907,Orphanet:79452 2 2 1.0000 condition_record_support_limited 20 0 1 Lymphatic_malformation_4 3 low_record_burden_interpretation_limited low_record_burden_gene VCP vcp_related_disorder VCP-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 VCP-related_disorder 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VCL condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene VCAN human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 25 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture VAPB condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene VAPB mondo_mondo_0012077_medgen_c1837728_omim_608627_orphanet_803 Amyotrophic lateral sclerosis type 8 MONDO:MONDO:0012077,MedGen:C1837728,OMIM:608627,Orphanet:803 2 2 1.0000 condition_record_support_limited 20 0 2 Amyotrophic_lateral_sclerosis_type_8 2 low_record_burden_interpretation_limited low_record_burden_gene VAC14 mondo_mondo_0008995_medgen_c1857663_omim_216340_orphanet_3472 Yunis-Varon syndrome MONDO:MONDO:0008995,MedGen:C1857663,OMIM:216340,Orphanet:3472 2 2 1.0000 condition_record_support_limited 20 0 2 Yunis-Varon_syndrome 15 low_record_burden_interpretation_limited low_record_burden_gene USP53 usp53_related_disorder USP53-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 USP53-related_disorder 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USP48 mondo_mondo_0859366_medgen_c5774302_omim_620227 Hearing loss, autosomal dominant 85 MONDO:MONDO:0859366,MedGen:C5774302,OMIM:620227 2 2 1.0000 condition_record_support_limited 20 0 0 Hearing_loss,_autosomal_dominant_85 2 low_record_burden_interpretation_limited low_record_burden_gene USP45 mondo_mondo_0032794_medgen_c5193139_omim_618513 Leber congenital amaurosis 19 MONDO:MONDO:0032794,MedGen:C5193139,OMIM:618513 2 2 1.0000 condition_record_support_limited 20 0 0 Leber_congenital_amaurosis_19 6 low_record_burden_interpretation_limited low_record_burden_gene USP19 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 2 2 1.0000 condition_record_support_limited 20 0 0 Epileptic_encephalopathy 2 low_record_burden_interpretation_limited low_record_burden_gene USH2A human_phenotype_ontology_hp_0000546_human_phenotype_ontology_hp_0007632_human_phenotype_ontology_hp_0007863_mondo_mondo_0004580_mesh_d012162_medgen_c0035304 Retinal degeneration Human_Phenotype_Ontology:HP:0000546,Human_Phenotype_Ontology:HP:0007632,Human_Phenotype_Ontology:HP:0007863,MONDO:MONDO:0004580,MeSH:D012162,MedGen:C0035304 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_degeneration 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH2A human_phenotype_ontology_hp_0004455_human_phenotype_ontology_hp_0004457_human_phenotype_ontology_hp_0008520_human_phenotype_ontology_hp_0008521_human_phenotype_ontology_hp_0008527_human_phenotype_ontology_hp_0008540_human_phenotype_ontology_hp_0008543_human_phenotype_ontology_hp_0008545_human_phenotype_ontology_hp_0008546_human_phenotype_ontology_hp_0008556_human_phenotype_ontology_hp_0008558_human_phenotype_ontology_hp_0008561_human_phenotype_ontology_hp_0008571_human_phenotype_ontology_hp_0008603_human_phenotype_ontology_hp_0008612_human_phenotype_ontology_hp_0008620_medgen_c1865866 Congenital sensorineural hearing impairment Human_Phenotype_Ontology:HP:0004455,Human_Phenotype_Ontology:HP:0004457,Human_Phenotype_Ontology:HP:0008520,Human_Phenotype_Ontology:HP:0008521,Human_Phenotype_Ontology:HP:0008527,Human_Phenotype_Ontology:HP:0008540,Human_Phenotype_Ontology:HP:0008543,Human_Phenotype_Ontology:HP:0008545,Human_Phenotype_Ontology:HP:0008546,Human_Phenotype_Ontology:HP:0008556,Human_Phenotype_Ontology:HP:0008558,Human_Phenotype_Ontology:HP:0008561,Human_Phenotype_Ontology:HP:0008571,Human_Phenotype_Ontology:HP:0008603,Human_Phenotype_Ontology:HP:0008612,Human_Phenotype_Ontology:HP:0008620,MedGen:C1865866 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_sensorineural_hearing_impairment 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH1G mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 2 Hearing_loss,_autosomal_recessive 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USH1G human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 1.0000 condition_record_support_limited 20 0 0 Hearing_impairment 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USH1G medgen_c0011053 Deafness MedGen:C0011053 2 2 1.0000 condition_record_support_limited 20 0 2 Deafness 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USH1C human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa 199 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USH1C medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 2 2 1.0000 condition_record_support_limited 20 0 2 Rare_genetic_deafness 199 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USH1C mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 2 Hearing_loss,_autosomal_recessive 199 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UQCRFS1 human_phenotype_ontology_hp_0003571_mondo_mondo_0011628_medgen_c0268579_omim_606054_orphanet_35 Propionic acidemia Human_Phenotype_Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35 2 2 1.0000 condition_record_support_limited 20 0 2 Propionic_acidemia 3 low_record_burden_interpretation_limited low_record_burden_gene UQCRFS1 human_phenotype_ontology_hp_0003128_human_phenotype_ontology_hp_0003255_human_phenotype_ontology_hp_0005960_mondo_mondo_0006040_medgen_c0001125 Lactic acidosis Human_Phenotype_Ontology:HP:0003128,Human_Phenotype_Ontology:HP:0003255,Human_Phenotype_Ontology:HP:0005960,MONDO:MONDO:0006040,MedGen:C0001125 2 2 1.0000 condition_record_support_limited 20 0 2 Lactic_acidosis 3 low_record_burden_interpretation_limited low_record_burden_gene UQCRFS1 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 2 2 1.0000 condition_record_support_limited 20 0 2 Cardiomyopathy 3 low_record_burden_interpretation_limited low_record_burden_gene UQCC2 mondo_mondo_0014356_medgen_c4014408_omim_615824 Mitochondrial complex III deficiency nuclear type 7 MONDO:MONDO:0014356,MedGen:C4014408,OMIM:615824 2 2 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_III_deficiency_nuclear_type_7 2 low_record_burden_interpretation_limited low_record_burden_gene UPF1 human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Hypertelorism Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 2 2 1.0000 condition_record_support_limited 20 0 2 Hypertelorism 7 low_record_burden_interpretation_limited low_record_burden_gene UPF1 human_phenotype_ontology_hp_0009890_medgen_c3276036 High anterior hairline Human_Phenotype_Ontology:HP:0009890,MedGen:C3276036 2 2 1.0000 condition_record_support_limited 20 0 2 High_anterior_hairline 7 low_record_burden_interpretation_limited low_record_burden_gene UPF1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 7 low_record_burden_interpretation_limited low_record_burden_gene UPF1 human_phenotype_ontology_hp_0000254_human_phenotype_ontology_hp_0000333_human_phenotype_ontology_hp_0001358_human_phenotype_ontology_hp_0001359_human_phenotype_ontology_hp_0002007_medgen_c0221354 Frontal bossing Human_Phenotype_Ontology:HP:0000254,Human_Phenotype_Ontology:HP:0000333,Human_Phenotype_Ontology:HP:0001358,Human_Phenotype_Ontology:HP:0001359,Human_Phenotype_Ontology:HP:0002007,MedGen:C0221354 2 2 1.0000 condition_record_support_limited 20 0 2 Frontal_bossing 7 low_record_burden_interpretation_limited low_record_burden_gene UNC79 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene UNC45B condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene UNC45A condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene UMPS condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene UFSP2 mondo_mondo_0007726_medgen_c1840572_omim_142669_orphanet_2114 Hip dysplasia, Beukes type MONDO:MONDO:0007726,MedGen:C1840572,OMIM:142669,Orphanet:2114 2 2 1.0000 condition_record_support_limited 20 0 1 Hip_dysplasia,_Beukes_type 9 low_record_burden_interpretation_limited low_record_burden_gene UFSP2 mondo_mondo_0031052_medgen_c5774212_omim_620028 Developmental and epileptic encephalopathy 106 MONDO:MONDO:0031052,MedGen:C5774212,OMIM:620028 2 2 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy_106 9 low_record_burden_interpretation_limited low_record_burden_gene UFM1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene UBTF ubtf_related_disorder UBTF-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 UBTF-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene UBQLN2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene UBAP1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBA5 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBA5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBA5 mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 2 2 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture U2AF2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 12 low_record_burden_interpretation_limited low_record_burden_gene TYRP1 human_phenotype_ontology_hp_0001022_mondo_mondo_0043209_medgen_c0001916 Albinism Human_Phenotype_Ontology:HP:0001022,MONDO:MONDO:0043209,MedGen:C0001916 2 2 1.0000 condition_record_support_limited 20 0 2 Albinism 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TYR human_phenotype_ontology_hp_0007652_human_phenotype_ontology_hp_0007924_medgen_c1853141 Slow decrease in visual acuity Human_Phenotype_Ontology:HP:0007652,Human_Phenotype_Ontology:HP:0007924,MedGen:C1853141 2 2 1.0000 condition_record_support_limited 20 0 2 Slow_decrease_in_visual_acuity 311 compact_adjacent_exon_block_opportunity local_compact_architecture TYR human_phenotype_ontology_hp_0001107_human_phenotype_ontology_hp_0007745_human_phenotype_ontology_hp_0007837_mondo_mondo_0017304_mesh_d016117_medgen_c0078917_orphanet_284804 Ocular albinism Human_Phenotype_Ontology:HP:0001107,Human_Phenotype_Ontology:HP:0007745,Human_Phenotype_Ontology:HP:0007837,MONDO:MONDO:0017304,MeSH:D016117,MedGen:C0078917,Orphanet:284804 2 2 1.0000 condition_record_support_limited 20 0 2 Ocular_albinism 311 compact_adjacent_exon_block_opportunity local_compact_architecture TYR human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 2 2 1.0000 condition_record_support_limited 20 0 2 Nystagmus 311 compact_adjacent_exon_block_opportunity local_compact_architecture TYR human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Myopia Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 2 2 1.0000 condition_record_support_limited 20 0 2 Myopia 311 compact_adjacent_exon_block_opportunity local_compact_architecture TYR human_phenotype_ontology_hp_0001010_human_phenotype_ontology_hp_0005589_human_phenotype_ontology_hp_0007604_human_phenotype_ontology_hp_0007622_mondo_mondo_0019290_medgen_c0162835_orphanet_79376 Hypopigmentation of the skin Human_Phenotype_Ontology:HP:0001010,Human_Phenotype_Ontology:HP:0005589,Human_Phenotype_Ontology:HP:0007604,Human_Phenotype_Ontology:HP:0007622,MONDO:MONDO:0019290,MedGen:C0162835,Orphanet:79376 2 2 1.0000 condition_record_support_limited 20 0 2 Hypopigmentation_of_the_skin 311 compact_adjacent_exon_block_opportunity local_compact_architecture TYR human_phenotype_ontology_hp_0000666_medgen_c0271385 Horizontal nystagmus Human_Phenotype_Ontology:HP:0000666,MedGen:C0271385 2 2 1.0000 condition_record_support_limited 20 0 2 Horizontal_nystagmus 311 compact_adjacent_exon_block_opportunity local_compact_architecture TYR human_phenotype_ontology_hp_0007750_mondo_mondo_0044203_medgen_c2673946_omim_ps136520 Foveal hypoplasia Human_Phenotype_Ontology:HP:0007750,MONDO:MONDO:0044203,MedGen:C2673946,OMIM:PS136520 2 2 1.0000 condition_record_support_limited 20 0 2 Foveal_hypoplasia 311 compact_adjacent_exon_block_opportunity local_compact_architecture TYR human_phenotype_ontology_hp_0001411_human_phenotype_ontology_hp_0002910_human_phenotype_ontology_hp_0003143_human_phenotype_ontology_hp_0003156_human_phenotype_ontology_hp_0003293_human_phenotype_ontology_hp_0006567_human_phenotype_ontology_hp_0006578_human_phenotype_ontology_hp_0008267_human_phenotype_ontology_hp_0008342_medgen_c0235996 Elevated circulating hepatic transaminase concentration Human_Phenotype_Ontology:HP:0001411,Human_Phenotype_Ontology:HP:0002910,Human_Phenotype_Ontology:HP:0003143,Human_Phenotype_Ontology:HP:0003156,Human_Phenotype_Ontology:HP:0003293,Human_Phenotype_Ontology:HP:0006567,Human_Phenotype_Ontology:HP:0006578,Human_Phenotype_Ontology:HP:0008267,Human_Phenotype_Ontology:HP:0008342,MedGen:C0235996 2 2 1.0000 condition_record_support_limited 20 0 2 Elevated_circulating_hepatic_transaminase_concentration 311 compact_adjacent_exon_block_opportunity local_compact_architecture TYR human_phenotype_ontology_hp_0011506_mondo_mondo_0810000_medgen_c0600518 Choroidal neovascularization Human_Phenotype_Ontology:HP:0011506,MONDO:MONDO:0810000,MedGen:C0600518 2 2 1.0000 condition_record_support_limited 20 0 2 Choroidal_neovascularization 311 compact_adjacent_exon_block_opportunity local_compact_architecture TYR human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_metabolism/homeostasis 311 compact_adjacent_exon_block_opportunity local_compact_architecture TYMP tymp_related_disorder TYMP-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 TYMP-related_disorder 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TYMP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TXNL4A condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene TXNL4A txnl4a_related_disorder TXNL4A-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 TXNL4A-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene TXNDC15 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene TWNK medgen_c1328348 mitochondrial hepatopathy MedGen:C1328348 2 2 1.0000 condition_record_support_limited 20 0 0 mitochondrial_hepatopathy 82 compact_adjacent_exon_block_opportunity local_compact_architecture TWNK mondo_mondo_0011835_medgen_c1843851_omim_607459_orphanet_70595 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:70595 2 2 1.0000 condition_record_support_limited 20 0 2 Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis 82 compact_adjacent_exon_block_opportunity local_compact_architecture TWNK mondo_mondo_0017312_medgen_c0685838_omim_ps233400_orphanet_2855 Perrault syndrome MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855 2 2 1.0000 condition_record_support_limited 20 0 2 Perrault_syndrome 82 compact_adjacent_exon_block_opportunity local_compact_architecture TWNK mondo_mondo_0021944_medgen_c1852271_omim_ps609129 Auditory neuropathy MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 2 2 1.0000 condition_record_support_limited 20 0 0 Auditory_neuropathy 82 compact_adjacent_exon_block_opportunity local_compact_architecture TWIST1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 96 compact_adjacent_exon_block_opportunity local_compact_architecture TWIST1 common_craniosynostosis_syndromes Common craniosynostosis syndromes . 2 2 1.0000 condition_record_support_limited 20 0 1 Common_craniosynostosis_syndromes 96 compact_adjacent_exon_block_opportunity local_compact_architecture TUSC3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 19 low_record_burden_interpretation_limited low_record_burden_gene TULP1 medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 2 2 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_retinitis_pigmentosa 151 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUFT1 mondo_mondo_0957307_medgen_c1843292_omim_620415_orphanet_293165 Woolly hair-skin fragility syndrome MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165 2 2 1.0000 condition_record_support_limited 20 0 0 Woolly_hair-skin_fragility_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene TUBGCP6 microcephaly_and_chorioretinopathy_with_or_without_intellectual_disability Microcephaly and chorioretinopathy with or without intellectual disability MedGen:CN233046 2 2 1.0000 condition_record_support_limited 20 0 1 Microcephaly_and_chorioretinopathy_with_or_without_intellectual_disability 135 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBGCP2 mondo_mondo_0032893_medgen_c5231486_omim_618737 Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures MONDO:MONDO:0032893,MedGen:C5231486,OMIM:618737 2 2 1.0000 condition_record_support_limited 20 0 1 Pachygyria,_microcephaly,_developmental_delay,_and_dysmorphic_facies,_with_or_without_seizures 2 low_record_burden_interpretation_limited low_record_burden_gene TUBB4B mondo_mondo_0060650_medgen_c4693498_omim_617879 Leber congenital amaurosis with early-onset deafness MONDO:MONDO:0060650,MedGen:C4693498,OMIM:617879 2 2 1.0000 condition_record_support_limited 20 0 2 Leber_congenital_amaurosis_with_early-onset_deafness 5 low_record_burden_interpretation_limited low_record_burden_gene TUBB4A human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 2 Microcephaly 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB4A human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB4A human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 2 2 1.0000 condition_record_support_limited 20 0 2 Cerebral_palsy 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB3 human_phenotype_ontology_hp_0002060_medgen_c4021762 Abnormal cerebral morphology Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 2 2 1.0000 condition_record_support_limited 20 0 1 Abnormal_cerebral_morphology 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB2B mondo_mondo_0100153_medgen_cn850169 Tubulinopathy MONDO:MONDO:0100153,MedGen:CN850169 2 2 1.0000 condition_record_support_limited 20 0 1 Tubulinopathy 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB1 tubb1_related_disorder TUBB1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 TUBB1-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene TUBB1 human_phenotype_ontology_hp_0040185_medgen_c2751260 Macrothrombocytopenia Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260 2 2 1.0000 condition_record_support_limited 20 0 0 Macrothrombocytopenia 17 low_record_burden_interpretation_limited low_record_burden_gene TUBA3D mondo_mondo_0054771_medgen_c4693660_omim_617928 Keratoconus 9 MONDO:MONDO:0054771,MedGen:C4693660,OMIM:617928 2 2 1.0000 condition_record_support_limited 20 0 0 Keratoconus_9 2 low_record_burden_interpretation_limited low_record_burden_gene TUBA1A human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 1 Seizure 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Corpus callosum, agenesis of Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 2 2 1.0000 condition_record_support_limited 20 0 2 Corpus_callosum,_agenesis_of 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 2 2 1.0000 condition_record_support_limited 20 0 1 Cerebral_palsy 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTR mondo_mondo_0018634_mesh_d028226_medgen_c0740340_orphanet_444116 Hereditary amyloidosis MONDO:MONDO:0018634,MeSH:D028226,MedGen:C0740340,Orphanet:444116 2 2 1.0000 condition_record_support_limited 20 0 2 Hereditary_amyloidosis 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTPA ttpa_related_disorder TTPA-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 TTPA-related_disorder 91 compact_adjacent_exon_block_opportunity local_compact_architecture TTPA human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy 91 compact_adjacent_exon_block_opportunity local_compact_architecture TTPA mondo_mondo_1010178_medgen_cn380413_omim_214800 CHD7-related CHARGE syndrome MONDO:MONDO:1010178,MedGen:CN380413,OMIM:214800 2 2 1.0000 condition_record_support_limited 20 0 2 CHD7-related_CHARGE_syndrome 91 compact_adjacent_exon_block_opportunity local_compact_architecture TTN human_phenotype_ontology_hp_0001716_mondo_mondo_0008685_medgen_c0043202_omim_194200 Wolff-Parkinson-White pattern Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200 2 2 1.0000 condition_record_support_limited 20 0 1 Wolff-Parkinson-White_pattern 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN human_phenotype_ontology_hp_0002515_medgen_c0231712 Waddling gait Human_Phenotype_Ontology:HP:0002515,MedGen:C0231712 2 2 1.0000 condition_record_support_limited 20 0 2 Waddling_gait 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN titinopathy Titinopathy . 2 2 1.0000 condition_record_support_limited 20 0 1 Titinopathy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN human_phenotype_ontology_hp_0001709_mondo_mondo_0000468_medgen_c0151517 Third degree atrioventricular block Human_Phenotype_Ontology:HP:0001709,MONDO:MONDO:0000468,MedGen:C0151517 2 2 1.0000 condition_record_support_limited 20 0 1 Third_degree_atrioventricular_block 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN ttn_related_cardiomyopathy TTN-related cardiomyopathy . 2 2 1.0000 condition_record_support_limited 20 0 0 TTN-related_cardiomyopathy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN efo_the_experimental_factor_ontology_efo_0005303_mesh_d013398_medgen_c0038644_omim_272120 SUDDEN INFANT DEATH SYNDROME EFO:_The_Experimental_Factor_Ontology:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120 2 2 1.0000 condition_record_support_limited 20 0 2 SUDDEN_INFANT_DEATH_SYNDROME 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN human_phenotype_ontology_hp_0003748_human_phenotype_ontology_hp_0008956_human_phenotype_ontology_hp_0008974_medgen_c1836767 Proximal lower limb amyotrophy Human_Phenotype_Ontology:HP:0003748,Human_Phenotype_Ontology:HP:0008956,Human_Phenotype_Ontology:HP:0008974,MedGen:C1836767 2 2 1.0000 condition_record_support_limited 20 0 2 Proximal_lower_limb_amyotrophy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Limb-girdle muscular dystrophy Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 2 2 1.0000 condition_record_support_limited 20 0 2 Limb-girdle_muscular_dystrophy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN mondo_mondo_0012285_medgen_c1836118_omim_609470_orphanet_54260 Left ventricular noncompaction 2 MONDO:MONDO:0012285,MedGen:C1836118,OMIM:609470,Orphanet:54260 2 2 1.0000 condition_record_support_limited 20 0 1 Left_ventricular_noncompaction_2 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN human_phenotype_ontology_hp_0011808_medgen_c3277184 Decreased patellar reflex Human_Phenotype_Ontology:HP:0011808,MedGen:C3277184 2 2 1.0000 condition_record_support_limited 20 0 2 Decreased_patellar_reflex 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTLL5 ttll5_related_disorder TTLL5-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 TTLL5-related_disorder 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTI2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 8 low_record_burden_interpretation_limited low_record_burden_gene TTI1 human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 2 2 1.0000 condition_record_support_limited 20 0 0 Severe_intellectual_disability 9 low_record_burden_interpretation_limited low_record_burden_gene TTC7A human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 2 2 1.0000 condition_record_support_limited 20 0 1 Severe_combined_immunodeficiency_disease 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC29 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene TTC21B mondo_mondo_0010024_medgen_c0432198_omim_269860_orphanet_93268 Type IV short rib polydactyly syndrome MONDO:MONDO:0010024,MedGen:C0432198,OMIM:269860,Orphanet:93268 2 2 1.0000 condition_record_support_limited 20 0 2 Type_IV_short_rib_polydactyly_syndrome 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC21B human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC21B mondo_mondo_0017842_medgen_c0403553_omim_ps266900_orphanet_3156 Renal dysplasia and retinal aplasia MONDO:MONDO:0017842,MedGen:C0403553,OMIM:PS266900,Orphanet:3156 2 2 1.0000 condition_record_support_limited 20 0 2 Renal_dysplasia_and_retinal_aplasia 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC21B mondo_mondo_0011190_medgen_c1865872_omim_602088_orphanet_655_orphanet_93591 Infantile nephronophthisis MONDO:MONDO:0011190,MedGen:C1865872,OMIM:602088,Orphanet:655,Orphanet:93591 2 2 1.0000 condition_record_support_limited 20 0 2 Infantile_nephronophthisis 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSR2 fgd1_related_disorder FGD1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 FGD1-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene TSPYL1 mondo_mondo_0012124_medgen_c1837371_omim_608800_orphanet_168593 Sudden infant death-dysgenesis of the testes syndrome MONDO:MONDO:0012124,MedGen:C1837371,OMIM:608800,Orphanet:168593 2 2 1.0000 condition_record_support_limited 20 0 0 Sudden_infant_death-dysgenesis_of_the_testes_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene TSPEAR tspear_related_disorder_of_tooth_and_hair_follicle_morphogenesis TSPEAR-related disorder of tooth and hair follicle morphogenesis . 2 2 1.0000 condition_record_support_limited 20 0 2 TSPEAR-related_disorder_of_tooth_and_hair_follicle_morphogenesis 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSPEAR mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSPEAR ectodermal_dysplasia_14_hair_tooth_type_with_hypohidrosis Ectodermal dysplasia 14, hair/tooth type, with hypohidrosis . 2 2 1.0000 condition_record_support_limited 20 0 1 Ectodermal_dysplasia_14,_hair/tooth_type,_with_hypohidrosis 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSPAN1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSHR mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN54 tsen54_related_disorder TSEN54-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 TSEN54-related_disorder 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN54 mondo_mondo_0010185_medgen_c1848552_omim_277410_orphanet_622_orphanet_79283 Methylmalonic aciduria and homocystinuria type cblD MONDO:MONDO:0010185,MedGen:C1848552,OMIM:277410,Orphanet:622,Orphanet:79283 2 2 1.0000 condition_record_support_limited 20 0 2 Methylmalonic_aciduria_and_homocystinuria_type_cblD 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN34 mondo_mondo_0012891_medgen_c2676465_omim_612390_orphanet_2524 Pontocerebellar hypoplasia type 2C MONDO:MONDO:0012891,MedGen:C2676465,OMIM:612390,Orphanet:2524 2 2 1.0000 condition_record_support_limited 20 0 0 Pontocerebellar_hypoplasia_type_2C 2 low_record_burden_interpretation_limited low_record_burden_gene TSEN15 mondo_mondo_0014874_medgen_c4310757_omim_617026_orphanet_2524 Pontocerebellar hypoplasia, type 2F MONDO:MONDO:0014874,MedGen:C4310757,OMIM:617026,Orphanet:2524 2 2 1.0000 condition_record_support_limited 20 0 0 Pontocerebellar_hypoplasia,_type_2F 2 low_record_burden_interpretation_limited low_record_burden_gene TSC2 mondo_mondo_0008263_medgen_c3149841_omim_173900 Polycystic kidney disease, adult type MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900 2 2 1.0000 condition_record_support_limited 20 0 0 Polycystic_kidney_disease,_adult_type 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC2 human_phenotype_ontology_hp_0009717_medgen_c1968959 Cortical tubers Human_Phenotype_Ontology:HP:0009717,MedGen:C1968959 2 2 1.0000 condition_record_support_limited 20 0 2 Cortical_tubers 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 2 Seizure 739 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC1 human_phenotype_ontology_hp_0009717_medgen_c1968959 Cortical tubers Human_Phenotype_Ontology:HP:0009717,MedGen:C1968959 2 2 1.0000 condition_record_support_limited 20 0 2 Cortical_tubers 739 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TRRAP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 31 large_gene_or_donor_burden_stress_case donor_burden_stress TRRAP mondo_mondo_0032911_medgen_c5394059_omim_618778 Hearing loss, autosomal dominant 75 MONDO:MONDO:0032911,MedGen:C5394059,OMIM:618778 2 2 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_dominant_75 31 large_gene_or_donor_burden_stress_case donor_burden_stress TRPV4 mondo_mondo_0018240_medgen_c5680977_orphanet_364820 TRPV4-related bone disorder MONDO:MONDO:0018240,MedGen:C5680977,Orphanet:364820 2 2 1.0000 condition_record_support_limited 20 0 1 TRPV4-related_bone_disorder 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPS1 mondo_mondo_0017951_medgen_c0265255_omim_ps190350_orphanet_324764 Trichorhinophalangeal syndrome MONDO:MONDO:0017951,MedGen:C0265255,OMIM:PS190350,Orphanet:324764 2 2 1.0000 condition_record_support_limited 20 0 0 Trichorhinophalangeal_syndrome 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPS1 mondo_mondo_0007874_medgen_c0023003_omim_150230_orphanet_502 Langer-Giedion syndrome MONDO:MONDO:0007874,MedGen:C0023003,OMIM:150230,Orphanet:502 2 2 1.0000 condition_record_support_limited 20 0 2 Langer-Giedion_syndrome 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPM7 condition_not_provided condition not provided . 2 2 1.0000 condition_record_support_limited 20 2 0 See_cases 4 low_record_burden_interpretation_limited low_record_burden_gene TRPM7 mondo_mondo_0011176_medgen_c1865974_omim_602014_orphanet_30924 Intestinal hypomagnesemia 1 MONDO:MONDO:0011176,MedGen:C1865974,OMIM:602014,Orphanet:30924 2 2 1.0000 condition_record_support_limited 20 0 0 Intestinal_hypomagnesemia_1 4 low_record_burden_interpretation_limited low_record_burden_gene TRPM4 mondo_mondo_0032801_medgen_c5193144_omim_618531 Erythrokeratodermia variabilis et progressiva 6 MONDO:MONDO:0032801,MedGen:C5193144,OMIM:618531 2 2 1.0000 condition_record_support_limited 20 0 1 Erythrokeratodermia_variabilis_et_progressiva_6 7 low_record_burden_interpretation_limited low_record_burden_gene TRNT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRMU mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRMT10A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIT1 trit1_related_disorder TRIT1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 TRIT1-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene TRIT1 trit1_deficiency TRIT1 Deficiency . 2 2 1.0000 condition_record_support_limited 20 0 2 TRIT1_Deficiency 17 low_record_burden_interpretation_limited low_record_burden_gene TRIP4 trip4_related_disorder TRIP4-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 TRIP4-related_disorder 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIP4 mondo_mondo_0014896_medgen_c4310736_omim_617066_orphanet_486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome MONDO:MONDO:0014896,MedGen:C4310736,OMIM:617066,Orphanet:486815 2 2 1.0000 condition_record_support_limited 20 0 1 Congenital_muscular_dystrophy-respiratory_failure-skin_abnormalities-joint_hyperlaxity_syndrome 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIP4 mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 Centronuclear myopathy MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 2 2 1.0000 condition_record_support_limited 20 0 0 Centronuclear_myopathy 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIP12 trip12_related_disorder TRIP12-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 TRIP12-related_disorder 98 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRIP11 trip11_related_disorder TRIP11-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 TRIP11-related_disorder 87 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRIOBP mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 2 2 1.0000 condition_record_support_limited 20 0 1 Nonsyndromic_genetic_hearing_loss 100 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRIO mondo_mondo_0000508_medgen_c5680525_orphanet_183763 Syndromic intellectual disability MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 2 2 1.0000 condition_record_support_limited 20 0 0 Syndromic_intellectual_disability 175 large_gene_or_donor_burden_stress_case donor_burden_stress TRIO mondo_mondo_0012355_medgen_c1853276_omim_609823_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 28 MONDO:MONDO:0012355,MedGen:C1853276,OMIM:609823,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_nonsyndromic_hearing_loss_28 175 large_gene_or_donor_burden_stress_case donor_burden_stress TRIO autosomal_dominant_trio_related_disorders Autosomal dominant TRIO-related disorders . 2 2 1.0000 condition_record_support_limited 20 0 2 Autosomal_dominant_TRIO-related_disorders 175 large_gene_or_donor_burden_stress_case donor_burden_stress TRIM63 condition_not_provided condition not provided .|MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 See_cases|not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene TRIM63 mondo_mondo_0979573_medgen_c6012754_omim_621270 Cardiomyopathy, familial hypertrophic, 31 MONDO:MONDO:0979573,MedGen:C6012754,OMIM:621270 2 2 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy,_familial_hypertrophic,_31 5 low_record_burden_interpretation_limited low_record_burden_gene TRIM37 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TREX1 mondo_mondo_0019557_medgen_c4551515_orphanet_90280 Chilblain lupus MONDO:MONDO:0019557,MedGen:C4551515,Orphanet:90280 2 2 1.0000 condition_record_support_limited 20 0 2 Chilblain_lupus 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TREX1 medgen_c3150315 Aicardi-Goutieres syndrome 1, autosomal dominant MedGen:C3150315 2 2 1.0000 condition_record_support_limited 20 0 2 Aicardi-Goutieres_syndrome_1,_autosomal_dominant 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRDN trdn_related_disorder TRDN-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 TRDN-related_disorder 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRDN mondo_mondo_0017990_medgen_c5574922_omim_ps604772_orphanet_3286 Catecholaminergic polymorphic ventricular tachycardia MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286 2 2 1.0000 condition_record_support_limited 20 0 2 Catecholaminergic_polymorphic_ventricular_tachycardia 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC9 trappc9_related_disorder TRAPPC9-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 TRAPPC9-related_disorder 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC6B trappc6b_related_disorder TRAPPC6B-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 TRAPPC6B-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene TRAPPC12 trappc12_related_disorder TRAPPC12-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 TRAPPC12-related_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC12 progressive_childhood_encephalopathy Progressive childhood encephalopathy . 2 2 1.0000 condition_record_support_limited 20 0 2 Progressive_childhood_encephalopathy 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC11 mondo_mondo_0029136_medgen_c4748327_omim_618138_orphanet_565837 Muscular dystrophy, limb-girdle, autosomal recessive 23 MONDO:MONDO:0029136,MedGen:C4748327,OMIM:618138,Orphanet:565837 2 2 1.0000 condition_record_support_limited 20 0 1 Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC11 human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Limb-girdle muscular dystrophy Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 2 2 1.0000 condition_record_support_limited 20 0 2 Limb-girdle_muscular_dystrophy 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC11 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAF7 traf7_related_disorder TRAF7-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 TRAF7-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene TRAF3IP1 mondo_mondo_0009894_medgen_c0024507_omim_263520 Short-rib thoracic dysplasia 6 with or without polydactyly MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520 2 2 1.0000 condition_record_support_limited 20 0 1 Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAF3 mondo_mondo_0976228_medgen_c6012695_omim_621096 Immunodeficiency 132b MONDO:MONDO:0976228,MedGen:C6012695,OMIM:621096 2 2 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_132b 4 low_record_burden_interpretation_limited low_record_burden_gene TPRKB mondo_mondo_0033009_medgen_c4540274_omim_617731 Galloway-Mowat syndrome 5 MONDO:MONDO:0033009,MedGen:C4540274,OMIM:617731 2 2 1.0000 condition_record_support_limited 20 0 0 Galloway-Mowat_syndrome_5 2 low_record_burden_interpretation_limited low_record_burden_gene TPM2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM1 tpm1_related_disorder TPM1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 TPM1-related_disorder 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP53 human_phenotype_ontology_hp_0002860_mondo_mondo_0005096_mesh_d002294_medgen_c0007137 Squamous cell carcinoma Human_Phenotype_Ontology:HP:0002860,MONDO:MONDO:0005096,MeSH:D002294,MedGen:C0007137 2 2 1.0000 condition_record_support_limited 20 0 2 Squamous_cell_carcinoma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 human_phenotype_ontology_hp_0100242_mondo_mondo_0005089_medgen_c1261473 Sarcoma Human_Phenotype_Ontology:HP:0100242,MONDO:MONDO:0005089,MedGen:C1261473 2 2 1.0000 condition_record_support_limited 20 0 2 Sarcoma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 Malignant lymphoma, large B-cell, diffuse MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 2 2 1.0000 condition_record_support_limited 20 0 1 Malignant_lymphoma,_large_B-cell,_diffuse 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 mondo_mondo_0016248_medgen_c5679802 Familial ovarian cancer MONDO:MONDO:0016248,MedGen:C5679802 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_ovarian_cancer 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Diamond-Blackfan anemia Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 2 2 1.0000 condition_record_support_limited 20 0 2 Diamond-Blackfan_anemia 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 human_phenotype_ontology_hp_0030392_mondo_mondo_0016718_medgen_c0431109_orphanet_251899 Choroid plexus carcinoma Human_Phenotype_Ontology:HP:0030392,MONDO:MONDO:0016718,MedGen:C0431109,Orphanet:251899 2 2 1.0000 condition_record_support_limited 20 0 2 Choroid_plexus_carcinoma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 mondo_mondo_0004988_medgen_c0858252 Breast adenocarcinoma MONDO:MONDO:0004988,MedGen:C0858252 2 2 1.0000 condition_record_support_limited 20 0 2 Breast_adenocarcinoma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 human_phenotype_ontology_hp_0005550_human_phenotype_ontology_hp_0006734_human_phenotype_ontology_hp_0006760_mondo_mondo_0004948_mesh_d015451_medgen_c0023434_omim_151400_orphanet_67038 B-cell chronic lymphocytic leukemia Human_Phenotype_Ontology:HP:0005550,Human_Phenotype_Ontology:HP:0006734,Human_Phenotype_Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038 2 2 1.0000 condition_record_support_limited 20 0 1 B-cell_chronic_lymphocytic_leukemia 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 mondo_mondo_0016684_medgen_c0334579_orphanet_251589 Astrocytoma, anaplastic MONDO:MONDO:0016684,MedGen:C0334579,Orphanet:251589 2 2 1.0000 condition_record_support_limited 20 0 2 Astrocytoma,_anaplastic 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 medgen_c1859973 ADRENOCORTICAL CARCINOMA, PEDIATRIC MedGen:C1859973 2 2 1.0000 condition_record_support_limited 20 0 2 ADRENOCORTICAL_CARCINOMA,_PEDIATRIC 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TOR1A tor1a_related_disorder TOR1A-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 TOR1A-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene TOR1A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 15 low_record_burden_interpretation_limited low_record_burden_gene TOR1A human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 2 2 1.0000 condition_record_support_limited 20 0 2 Dystonic_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene TOP3A mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_disease 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TOMT medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 2 2 1.0000 condition_record_support_limited 20 0 2 Rare_genetic_deafness 24 compact_adjacent_exon_block_opportunity local_compact_architecture TOMM7 mondo_mondo_0957953_medgen_c5882717_omim_620601 Garg-Mishra progeroid syndrome MONDO:MONDO:0957953,MedGen:C5882717,OMIM:620601 2 2 1.0000 condition_record_support_limited 20 0 2 Garg-Mishra_progeroid_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene TOGARAM1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene TOE1 toe1_related_disorder TOE1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 TOE1-related_disorder 38 compact_adjacent_exon_block_opportunity local_compact_architecture TOE1 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 2 2 1.0000 condition_record_support_limited 20 0 0 Gastric_cancer 38 compact_adjacent_exon_block_opportunity local_compact_architecture TNXB cyp21a2_related_disorder CYP21A2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CYP21A2-related_disorder 142 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TNXB medgen_c2936858_omim_201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY MedGen:C2936858,OMIM:201910 2 2 1.0000 condition_record_support_limited 20 0 2 ADRENAL_HYPERPLASIA,_CONGENITAL,_DUE_TO_21-HYDROXYLASE_DEFICIENCY 142 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TNRC6B human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TNPO2 tnpo2_related_disorder TNPO2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 TNPO2-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene TNNT3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene TNNT3 mondo_mondo_0011128_medgen_c1834523_orphanet_1147 Sheldon-Hall syndrome MONDO:MONDO:0011128,MedGen:C1834523,Orphanet:1147 2 2 1.0000 condition_record_support_limited 20 0 2 Sheldon-Hall_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene TNNT2 tnnt2_related_disorder TNNT2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 TNNT2-related_disorder 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNT1 mondo_mondo_0957284_medgen_c5830549_omim_620389 Nemaline myopathy 5C, autosomal dominant MONDO:MONDO:0957284,MedGen:C5830549,OMIM:620389 2 2 1.0000 condition_record_support_limited 20 0 1 Nemaline_myopathy_5C,_autosomal_dominant 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNI3 efo_the_experimental_factor_ontology_efo_0005303_mesh_d013398_medgen_c0038644_omim_272120 SUDDEN INFANT DEATH SYNDROME EFO:_The_Experimental_Factor_Ontology:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120 2 2 1.0000 condition_record_support_limited 20 0 2 SUDDEN_INFANT_DEATH_SYNDROME 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNI3 efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 2 2 1.0000 condition_record_support_limited 20 0 0 Primary_dilated_cardiomyopathy 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNC2 mondo_mondo_0859335_medgen_c5774273_omim_620161 Congenital myopathy 15 MONDO:MONDO:0859335,MedGen:C5774273,OMIM:620161 2 2 1.0000 condition_record_support_limited 20 0 0 Congenital_myopathy_15 2 low_record_burden_interpretation_limited low_record_burden_gene TNFRSF13C mondo_mondo_0013284_medgen_c3150739_omim_613494_orphanet_1572_orphanet_696925 Immunodeficiency, common variable, 4 MONDO:MONDO:0013284,MedGen:C3150739,OMIM:613494,Orphanet:1572,Orphanet:696925 2 2 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency,_common_variable,_4 2 low_record_burden_interpretation_limited low_record_burden_gene TNFRSF13B mondo_mondo_0011864_medgen_c3149378_omim_607594_orphanet_1572_orphanet_695183 Immunodeficiency, common variable, 1 MONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594,Orphanet:1572,Orphanet:695183 2 2 1.0000 condition_record_support_limited 20 0 2 Immunodeficiency,_common_variable,_1 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNFRSF13B mondo_mondo_0015517_medgen_c0009447_omim_ps607594_orphanet_1572 Common variable immunodeficiency MONDO:MONDO:0015517,MedGen:C0009447,OMIM:PS607594,Orphanet:1572 2 2 1.0000 condition_record_support_limited 20 0 2 Common_variable_immunodeficiency 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNFRSF11A mondo_mondo_0008275_medgen_c0432292_omim_174810_orphanet_85195 Familial expansile osteolysis MONDO:MONDO:0008275,MedGen:C0432292,OMIM:174810,Orphanet:85195 2 2 1.0000 condition_record_support_limited 20 0 1 Familial_expansile_osteolysis 32 compact_adjacent_exon_block_opportunity local_compact_architecture TNFRSF10B mondo_mondo_0010150_mesh_d000077195_medgen_c1168401_omim_275355_orphanet_67037 Squamous cell carcinoma of the head and neck MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037 2 2 1.0000 condition_record_support_limited 20 0 0 Squamous_cell_carcinoma_of_the_head_and_neck 2 low_record_burden_interpretation_limited low_record_burden_gene TNC condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene TMTC4 mondo_mondo_0958228_medgen_c5935576_omim_620714 Hearing loss, autosomal recessive 122 MONDO:MONDO:0958228,MedGen:C5935576,OMIM:620714 2 2 1.0000 condition_record_support_limited 20 0 0 Hearing_loss,_autosomal_recessive_122 2 low_record_burden_interpretation_limited low_record_burden_gene TMPRSS15 tmprss15_related_disorder TMPRSS15-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 TMPRSS15-related_disorder 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMPPE mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 13 low_record_burden_interpretation_limited low_record_burden_gene TMLHE mondo_mondo_0010469_medgen_c3550875_omim_300872 Epsilon-trimethyllysine hydroxylase deficiency MONDO:MONDO:0010469,MedGen:C3550875,OMIM:300872 2 2 1.0000 condition_record_support_limited 20 0 0 Epsilon-trimethyllysine_hydroxylase_deficiency 3 low_record_burden_interpretation_limited low_record_burden_gene TMIE human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 2 2 1.0000 condition_record_support_limited 20 0 2 Sensorineural_hearing_loss_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene TMIE medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 2 2 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_deafness 17 low_record_burden_interpretation_limited low_record_burden_gene TMEM94 medgen_c5681780_orphanet_102369 Rare syndromic intellectual disability MedGen:C5681780,Orphanet:102369 2 2 1.0000 condition_record_support_limited 20 0 2 Rare_syndromic_intellectual_disability 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Nephronophthisis Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 2 2 1.0000 condition_record_support_limited 20 0 2 Nephronophthisis 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0005562_medgen_c0431718 Multiple renal cysts Human_Phenotype_Ontology:HP:0005562,MedGen:C0431718 2 2 1.0000 condition_record_support_limited 20 0 2 Multiple_renal_cysts 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0000612_mondo_mondo_0020356_medgen_c0240063_orphanet_98944 Iris coloboma Human_Phenotype_Ontology:HP:0000612,MONDO:MONDO:0020356,MedGen:C0240063,Orphanet:98944 2 2 1.0000 condition_record_support_limited 20 0 2 Iris_coloboma 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 2 2 1.0000 condition_record_support_limited 20 0 2 Generalized_hypotonia 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0000105_medgen_c0542518 Enlarged kidney Human_Phenotype_Ontology:HP:0000105,MedGen:C0542518 2 2 1.0000 condition_record_support_limited 20 0 2 Enlarged_kidney 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0025700_medgen_c0730379 Anhydramnios Human_Phenotype_Ontology:HP:0025700,MedGen:C0730379 2 2 1.0000 condition_record_support_limited 20 0 2 Anhydramnios 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM63B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 7 low_record_burden_interpretation_limited low_record_burden_gene TMEM53 tmem53_related_craniotubular_dysplasia TMEM53-related craniotubular dysplasia . 2 2 1.0000 condition_record_support_limited 20 0 2 TMEM53-related_craniotubular_dysplasia 2 low_record_burden_interpretation_limited low_record_burden_gene TMEM53 mondo_mondo_0859226_medgen_c5575335_omim_619727 Craniotubular dysplasia, Ikegawa type MONDO:MONDO:0859226,MedGen:C5575335,OMIM:619727 2 2 1.0000 condition_record_support_limited 20 0 2 Craniotubular_dysplasia,_Ikegawa_type 2 low_record_burden_interpretation_limited low_record_burden_gene TMEM43 mondo_mondo_0011459_medgen_c1858379_omim_604400 Arrhythmogenic right ventricular dysplasia 5 MONDO:MONDO:0011459,MedGen:C1858379,OMIM:604400 2 2 1.0000 condition_record_support_limited 20 0 1 Arrhythmogenic_right_ventricular_dysplasia_5 3 low_record_burden_interpretation_limited low_record_burden_gene TMEM237 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 2 2 1.0000 condition_record_support_limited 20 0 2 Joubert_syndrome 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM231 tmem231_related_disorder TMEM231-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 TMEM231-related_disorder 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM231 mondo_mondo_0005308_medgen_c4277690_orphanet_363250 Ciliopathy MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 2 2 1.0000 condition_record_support_limited 20 0 1 Ciliopathy 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM218 mondo_mondo_0012626_medgen_c1970161_omim_611134_orphanet_564 Meckel syndrome, type 4 MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564 2 2 1.0000 condition_record_support_limited 20 0 1 Meckel_syndrome,_type_4 4 low_record_burden_interpretation_limited low_record_burden_gene TMEM218 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 2 2 1.0000 condition_record_support_limited 20 0 2 Joubert_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene TMEM216 mondo_mondo_0975840_medgen_c5975495_omim_620996 Retinitis pigmentosa 98 MONDO:MONDO:0975840,MedGen:C5975495,OMIM:620996 2 2 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa_98 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM216 mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 2 2 1.0000 condition_record_support_limited 20 0 1 Joubert_syndrome_and_related_disorders 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM216 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM127 inherited_phaeochromocytoma_and_paraganglioma_excluding_nf1 Inherited phaeochromocytoma and paraganglioma excluding NF1 . 2 2 1.0000 condition_record_support_limited 20 0 2 Inherited_phaeochromocytoma_and_paraganglioma_excluding_NF1 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM126B mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_disease 16 low_record_burden_interpretation_limited low_record_burden_gene TMEM106B mondo_mondo_0054791_medgen_c4693779_omim_617964 Leukodystrophy, hypomyelinating, 16 MONDO:MONDO:0054791,MedGen:C4693779,OMIM:617964 2 2 1.0000 condition_record_support_limited 20 0 1 Leukodystrophy,_hypomyelinating,_16 2 low_record_burden_interpretation_limited low_record_burden_gene TMC1 monogenic_hearing_loss Monogenic hearing loss . 2 2 1.0000 condition_record_support_limited 20 0 2 Monogenic_hearing_loss 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TLR8 infltr8 INFLTR8 . 2 2 1.0000 condition_record_support_limited 20 0 2 INFLTR8 5 low_record_burden_interpretation_limited low_record_burden_gene TLR7 mondo_mondo_0859083_medgen_c5676884_omim_301080 Systemic lupus erythematosus 17 MONDO:MONDO:0859083,MedGen:C5676884,OMIM:301080 2 2 1.0000 condition_record_support_limited 20 0 1 Systemic_lupus_erythematosus_17 6 low_record_burden_interpretation_limited low_record_burden_gene TLR7 human_phenotype_ontology_hp_0002725_mondo_mondo_0007915_medgen_c0024141_omim_152700_orphanet_536 Systemic lupus erythematosus Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536 2 2 1.0000 condition_record_support_limited 20 0 1 Systemic_lupus_erythematosus 6 low_record_burden_interpretation_limited low_record_burden_gene TLR1 human_phenotype_ontology_hp_0001370_mondo_mondo_0008383_medgen_c0003873_omim_180300 Rheumatoid arthritis Human_Phenotype_Ontology:HP:0001370,MONDO:MONDO:0008383,MedGen:C0003873,OMIM:180300 2 2 1.0000 condition_record_support_limited 20 0 0 Rheumatoid_arthritis 2 low_record_burden_interpretation_limited low_record_burden_gene TLK2 tlk2_related_disorder TLK2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 TLK2-related_disorder 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TLCD3B mondo_mondo_0030440_medgen_c5561989_omim_619531 Cone-rod dystrophy 22 MONDO:MONDO:0030440,MedGen:C5561989,OMIM:619531 2 2 1.0000 condition_record_support_limited 20 0 0 Cone-rod_dystrophy_22 2 low_record_burden_interpretation_limited low_record_burden_gene TKFC mondo_mondo_0032927_medgen_c5394125_omim_618805 Triokinase and FMN cyclase deficiency syndrome MONDO:MONDO:0032927,MedGen:C5394125,OMIM:618805 2 2 1.0000 condition_record_support_limited 20 0 2 Triokinase_and_FMN_cyclase_deficiency_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene TKFC tkfc_deficiency TKFC deficiency . 2 2 1.0000 condition_record_support_limited 20 0 2 TKFC_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene TKFC mondo_mondo_0019052_medgen_c0025521_orphanet_68367 Inborn errors of metabolism MONDO:MONDO:0019052,MedGen:C0025521,Orphanet:68367 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_errors_of_metabolism 2 low_record_burden_interpretation_limited low_record_burden_gene TK2 tk2_related_disorder TK2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 TK2-related_disorder 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TJP2 mondo_mondo_0010933_medgen_c3538946_omim_600791_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 4 MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_nonsyndromic_hearing_loss_4 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TINF2 tinf2_related_disorder TINF2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 TINF2-related_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TINF2 long_telomere_syndrome Long telomere syndrome . 2 2 1.0000 condition_record_support_limited 20 0 0 Long_telomere_syndrome 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TIMP3 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene TIMM8A mondo_mondo_0010421_medgen_c0221026_omim_300755_orphanet_229717_orphanet_47 X-linked agammaglobulinemia MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755,Orphanet:229717,Orphanet:47 2 2 1.0000 condition_record_support_limited 20 0 0 X-linked_agammaglobulinemia 25 compact_adjacent_exon_block_opportunity local_compact_architecture TIMM50 human_phenotype_ontology_hp_0006789_medgen_c1852373 Mitochondrial encephalopathy Human_Phenotype_Ontology:HP:0006789,MedGen:C1852373 2 2 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_encephalopathy 6 low_record_burden_interpretation_limited low_record_burden_gene TIE1 mondo_mondo_0030316_medgen_c5543614_omim_619401 Lymphatic malformation 11 MONDO:MONDO:0030316,MedGen:C5543614,OMIM:619401 2 2 1.0000 condition_record_support_limited 20 0 0 Lymphatic_malformation_11 2 low_record_burden_interpretation_limited low_record_burden_gene THRB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture THOC6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture THG1L thg1l_related_disorder THG1L-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 THG1L-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene THG1L mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene THBD human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_bleeding 8 low_record_burden_interpretation_limited low_record_burden_gene TH human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 2 2 1.0000 condition_record_support_limited 20 0 2 Dystonic_disorder 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGM5 mondo_mondo_0024548_medgen_c5679693_omim_270300_orphanet_263543_orphanet_263553 Peeling skin syndrome 1 MONDO:MONDO:0024548,MedGen:C5679693,OMIM:270300,Orphanet:263543,Orphanet:263553 2 2 1.0000 condition_record_support_limited 20 0 1 Peeling_skin_syndrome_1 19 low_record_burden_interpretation_limited low_record_burden_gene TGM5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 19 low_record_burden_interpretation_limited low_record_burden_gene TGM1 human_phenotype_ontology_hp_0007431_human_phenotype_ontology_hp_0007478_human_phenotype_ontology_hp_0007484_medgen_c0079583 Congenital ichthyosiform erythroderma Human_Phenotype_Ontology:HP:0007431,Human_Phenotype_Ontology:HP:0007478,Human_Phenotype_Ontology:HP:0007484,MedGen:C0079583 2 2 1.0000 condition_record_support_limited 20 0 1 Congenital_ichthyosiform_erythroderma 297 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR2 mondo_mondo_0007947_medgen_c0024796_omim_154700_orphanet_284963_orphanet_558 Marfan syndrome MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558 2 2 1.0000 condition_record_support_limited 20 0 1 Marfan_syndrome 130 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR2 mondo_mondo_0012212_medgen_c4551955_omim_609192_orphanet_60030 Loeys-Dietz syndrome 1 MONDO:MONDO:0012212,MedGen:C4551955,OMIM:609192,Orphanet:60030 2 2 1.0000 condition_record_support_limited 20 0 2 Loeys-Dietz_syndrome_1 130 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR1 mondo_mondo_0007947_medgen_c0024796_omim_154700_orphanet_284963_orphanet_558 Marfan syndrome MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558 2 2 1.0000 condition_record_support_limited 20 0 2 Marfan_syndrome 108 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR1 familial_aortopathy Familial aortopathy MedGen:CN078214 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_aortopathy 108 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 2 2 1.0000 condition_record_support_limited 20 0 2 Cardiovascular_phenotype 108 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBI human_phenotype_ontology_hp_0001131_human_phenotype_ontology_hp_0007775_mondo_mondo_0018102_medgen_c0010036_orphanet_34533 Corneal dystrophy Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533 2 2 1.0000 condition_record_support_limited 20 0 2 Corneal_dystrophy 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFB3 tgfb3_related_disorder TGFB3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 TGFB3-related_disorder 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFE3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFAP2B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFAP2A tfap2a_related_disorder TFAP2A-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 TFAP2A-related_disorder 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFAM mondo_mondo_0014943_medgen_c4310690_omim_617156 Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MONDO:MONDO:0014943,MedGen:C4310690,OMIM:617156 2 2 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_DNA_depletion_syndrome_15_(hepatocerebral_type) 2 low_record_burden_interpretation_limited low_record_burden_gene TEX15 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 2 2 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 22 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TET2 tet2_related_disorder TET2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 TET2-related_disorder 178 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TET2 mondo_mondo_0004977_medgen_c0020981_orphanet_86886 Angioimmunoblastic T-cell lymphoma MONDO:MONDO:0004977,MedGen:C0020981,Orphanet:86886 2 2 1.0000 condition_record_support_limited 20 0 2 Angioimmunoblastic_T-cell_lymphoma 178 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TERT human_phenotype_ontology_hp_0031413_medgen_c4531138 Short telomere length Human_Phenotype_Ontology:HP:0031413,MedGen:C4531138 2 2 1.0000 condition_record_support_limited 20 0 2 Short_telomere_length 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERT human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Hepatocellular carcinoma Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 2 2 1.0000 condition_record_support_limited 20 0 0 Hepatocellular_carcinoma 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERT mondo_mondo_0027353_medgen_c3151444 Autosomal recessive dyskeratosis congenita 4 MONDO:MONDO:0027353,MedGen:C3151444 2 2 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_dyskeratosis_congenita_4 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERT human_phenotype_ontology_hp_0001915_mondo_mondo_0015909_medgen_c0002874_omim_609135_orphanet_182040_orphanet_88 Aplastic anemia Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88 2 2 1.0000 condition_record_support_limited 20 0 2 Aplastic_anemia 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERT human_phenotype_ontology_hp_0006513_human_phenotype_ontology_hp_0006530_human_phenotype_ontology_hp_0006547_mondo_mondo_0015925_medgen_c5441745_orphanet_182095 Abnormal pulmonary interstitial morphology Human_Phenotype_Ontology:HP:0006513,Human_Phenotype_Ontology:HP:0006530,Human_Phenotype_Ontology:HP:0006547,MONDO:MONDO:0015925,MedGen:C5441745,Orphanet:182095 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_pulmonary_interstitial_morphology 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERB2 mondo_mondo_0030492_medgen_c5562034_omim_619645 Spermatogenic failure 59 MONDO:MONDO:0030492,MedGen:C5562034,OMIM:619645 2 2 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_59 3 low_record_burden_interpretation_limited low_record_burden_gene TENM4 mondo_mondo_0014756_medgen_c4225223_omim_616736 Tremor, hereditary essential, 5 MONDO:MONDO:0014756,MedGen:C4225223,OMIM:616736 2 2 1.0000 condition_record_support_limited 20 0 0 Tremor,_hereditary_essential,_5 3 low_record_burden_interpretation_limited low_record_burden_gene TEK mondo_mondo_0010968_medgen_c1832977_omim_600975_orphanet_98976 Glaucoma 3, primary infantile, B MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975,Orphanet:98976 2 2 1.0000 condition_record_support_limited 20 0 2 Glaucoma_3,_primary_infantile,_B 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TEK mondo_mondo_0007203_medgen_c0346072_omim_112200_orphanet_1059 Blue rubber bleb nevus MONDO:MONDO:0007203,MedGen:C0346072,OMIM:112200,Orphanet:1059 2 2 1.0000 condition_record_support_limited 20 0 2 Blue_rubber_bleb_nevus 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TECTA monogenic_hearing_loss Monogenic hearing loss . 2 2 1.0000 condition_record_support_limited 20 0 2 Monogenic_hearing_loss 123 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TECTA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 123 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TECRL condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TECRL tecrl_related_disorder TECRL-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 TECRL-related_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TECPR2 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 2 2 1.0000 condition_record_support_limited 20 0 2 Hereditary_spastic_paraplegia 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TDRD9 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 2 2 1.0000 condition_record_support_limited 20 0 0 Male_infertility 10 low_record_burden_interpretation_limited low_record_burden_gene TDRD9 human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Azoospermia Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 2 2 1.0000 condition_record_support_limited 20 0 1 Azoospermia 10 low_record_burden_interpretation_limited low_record_burden_gene TDP1 mondo_mondo_0011801_medgen_c4759870_omim_607250_orphanet_94124 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 MONDO:MONDO:0011801,MedGen:C4759870,OMIM:607250,Orphanet:94124 2 2 1.0000 condition_record_support_limited 20 0 1 Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_1 5 low_record_burden_interpretation_limited low_record_burden_gene TCOF1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCN2 tcn2_related_disorder TCN2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 TCN2-related_disorder 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF7L2 mondo_mondo_0100525_medgen_cn375563 TCF7L2-related neurodevelopmental disorder MONDO:MONDO:0100525,MedGen:CN375563 2 2 1.0000 condition_record_support_limited 20 0 1 TCF7L2-related_neurodevelopmental_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene TCF4 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 2 Microcephaly 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF20 human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Mild intellectual disability Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 2 2 1.0000 condition_record_support_limited 20 0 2 Mild_intellectual_disability 139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCF20 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 2 2 1.0000 condition_record_support_limited 20 0 2 Generalized_hypotonia 139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCF20 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 2 2 1.0000 condition_record_support_limited 20 0 2 Autism 139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCF12 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 2 2 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF12 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 1.0000 condition_record_support_limited 20 0 2 Autism_spectrum_disorder 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBXA2R mondo_mondo_0800447_medgen_c3279614_omim_614009 Bleeding disorder, platelet-type, 13, susceptibility to MONDO:MONDO:0800447,MedGen:C3279614,OMIM:614009 2 2 1.0000 condition_record_support_limited 20 0 0 Bleeding_disorder,_platelet-type,_13,_susceptibility_to 4 low_record_burden_interpretation_limited low_record_burden_gene TBX5 human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 2 2 1.0000 condition_record_support_limited 20 0 1 Heart,_malformation_of 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX5 medgen_c3805326 Congenital heart disease (variable) MedGen:C3805326 2 2 1.0000 condition_record_support_limited 20 0 0 Congenital_heart_disease_(variable) 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX4 tbx4_related_disorder TBX4-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 TBX4-related_disorder 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 37 compact_adjacent_exon_block_opportunity local_compact_architecture TBX2 tbx2_related_disorder TBX2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 TBX2-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene TBX18 mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 2 2 1.0000 condition_record_support_limited 20 0 1 Congenital_anomaly_of_kidney_and_urinary_tract 6 low_record_burden_interpretation_limited low_record_burden_gene TBX15 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene TBX15 mondo_mondo_0009845_medgen_c1850040_omim_260660_orphanet_93333 Pelviscapular dysplasia MONDO:MONDO:0009845,MedGen:C1850040,OMIM:260660,Orphanet:93333 2 2 1.0000 condition_record_support_limited 20 0 0 Pelviscapular_dysplasia 4 low_record_burden_interpretation_limited low_record_burden_gene TBX1 human_phenotype_ontology_hp_0001636_mondo_mondo_0008542_medgen_c0039685_omim_187500_orphanet_3303 Tetralogy of Fallot Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303 2 2 1.0000 condition_record_support_limited 20 0 2 Tetralogy_of_Fallot 56 compact_adjacent_exon_block_opportunity local_compact_architecture TBX1 medgen_c0795907 Conotruncal anomaly face syndrome MedGen:C0795907 2 2 1.0000 condition_record_support_limited 20 0 0 Conotruncal_anomaly_face_syndrome 56 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 tbr1_related_disorder TBR1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 TBR1-related_disorder 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 human_phenotype_ontology_hp_0001288_human_phenotype_ontology_hp_0006953_medgen_c0575081 Gait disturbance Human_Phenotype_Ontology:HP:0001288,Human_Phenotype_Ontology:HP:0006953,MedGen:C0575081 2 2 1.0000 condition_record_support_limited 20 0 2 Gait_disturbance 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Attention deficit hyperactivity disorder Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 2 2 1.0000 condition_record_support_limited 20 0 2 Attention_deficit_hyperactivity_disorder 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBP mondo_mondo_0011781_medgen_c1846707_omim_607136_orphanet_98759 Spinocerebellar ataxia type 17 MONDO:MONDO:0011781,MedGen:C1846707,OMIM:607136,Orphanet:98759 2 2 1.0000 condition_record_support_limited 20 0 0 Spinocerebellar_ataxia_type_17 2 low_record_burden_interpretation_limited low_record_burden_gene TBL1XR1 mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 Malignant lymphoma, large B-cell, diffuse MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 2 2 1.0000 condition_record_support_limited 20 0 1 Malignant_lymphoma,_large_B-cell,_diffuse 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBK1 mondo_mondo_0054754_medgen_c4693542_omim_617900 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 MONDO:MONDO:0054754,MedGen:C4693542,OMIM:617900 2 2 1.0000 condition_record_support_limited 20 0 2 Encephalopathy,_acute,_infection-induced_(herpes-specific),_susceptibility_to,_8 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCK syndromic_infantile_encephalopathy Syndromic Infantile Encephalopathy . 2 2 1.0000 condition_record_support_limited 20 0 2 Syndromic_Infantile_Encephalopathy 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCK human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCK human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_nervous_system 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCE mondo_mondo_0014071_medgen_c3554638_omim_615181_orphanet_588_orphanet_899 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 MONDO:MONDO:0014071,MedGen:C3554638,OMIM:615181,Orphanet:588,Orphanet:899 2 2 1.0000 condition_record_support_limited 20 0 0 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_11 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCE mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCD tbcd_related_disorder TBCD-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 TBCD-related_disorder 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D32 mondo_mondo_0979871_medgen_cn379782_omim_621307 Alsahan-Harris syndrome MONDO:MONDO:0979871,MedGen:CN379782,OMIM:621307 2 2 1.0000 condition_record_support_limited 20 0 1 Alsahan-Harris_syndrome 19 low_record_burden_interpretation_limited low_record_burden_gene TBC1D24 mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 2 2 1.0000 condition_record_support_limited 20 0 2 Epilepsy 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D23 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene TARDBP mondo_mondo_0020128_medgen_c0085084_orphanet_98503 Motor neuron disease MONDO:MONDO:0020128,MedGen:C0085084,Orphanet:98503 2 2 1.0000 condition_record_support_limited 20 0 1 Motor_neuron_disease 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TARDBP medgen_c3148872 FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED MedGen:C3148872 2 2 1.0000 condition_record_support_limited 20 0 1 FRONTOTEMPORAL_DEMENTIA_WITH_TDP43_INCLUSIONS,_TARDBP-RELATED 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAOK1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 72 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAOK1 developmental_delay_without_intellectual_impairment_or_behavioral_abnormalities DEVELOPMENTAL DELAY WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES . 2 2 1.0000 condition_record_support_limited 20 0 2 DEVELOPMENTAL_DELAY_WITHOUT_INTELLECTUAL_IMPAIRMENT_OR_BEHAVIORAL_ABNORMALITIES 72 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TANGO2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TANC2 mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 2 2 1.0000 condition_record_support_limited 20 0 1 Epilepsy 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TAMM41 human_phenotype_ontology_hp_0002878_human_phenotype_ontology_hp_0004877_mondo_mondo_0021113_medgen_c1145670 Respiratory failure Human_Phenotype_Ontology:HP:0002878,Human_Phenotype_Ontology:HP:0004877,MONDO:MONDO:0021113,MedGen:C1145670 2 2 1.0000 condition_record_support_limited 20 0 2 Respiratory_failure 5 low_record_burden_interpretation_limited low_record_burden_gene TAMM41 human_phenotype_ontology_hp_0002020_human_phenotype_ontology_hp_0004793_medgen_c4317146 Gastroesophageal reflux Human_Phenotype_Ontology:HP:0002020,Human_Phenotype_Ontology:HP:0004793,MedGen:C4317146 2 2 1.0000 condition_record_support_limited 20 0 2 Gastroesophageal_reflux 5 low_record_burden_interpretation_limited low_record_burden_gene TAMM41 human_phenotype_ontology_hp_0002015_human_phenotype_ontology_hp_0002569_medgen_c0011168 Dysphagia Human_Phenotype_Ontology:HP:0002015,Human_Phenotype_Ontology:HP:0002569,MedGen:C0011168 2 2 1.0000 condition_record_support_limited 20 0 2 Dysphagia 5 low_record_burden_interpretation_limited low_record_burden_gene TAMM41 human_phenotype_ontology_hp_0001488_medgen_c1865916 Bilateral ptosis Human_Phenotype_Ontology:HP:0001488,MedGen:C1865916 2 2 1.0000 condition_record_support_limited 20 0 2 Bilateral_ptosis 5 low_record_burden_interpretation_limited low_record_burden_gene TALDO1 taldo1_related_disorder TALDO1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 TALDO1-related_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAFAZZIN efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 2 2 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAFAZZIN cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 2 2 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAFAZZIN human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 2 2 1.0000 condition_record_support_limited 20 0 2 Cardiomyopathy 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAF8 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene TAF6 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene TAF6 mondo_mondo_0014931_medgen_c4310702_omim_617126_orphanet_694946 Alazami-Yuan syndrome MONDO:MONDO:0014931,MedGen:C4310702,OMIM:617126,Orphanet:694946 2 2 1.0000 condition_record_support_limited 20 0 1 Alazami-Yuan_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene TAF4 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene TAF4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 19 low_record_burden_interpretation_limited low_record_burden_gene TAF1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAC3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene SYT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Motor delay Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 2 2 1.0000 condition_record_support_limited 20 0 2 Motor_delay 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 2 2 1.0000 condition_record_support_limited 20 0 1 Epileptic_encephalopathy 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 2 2 1.0000 condition_record_support_limited 20 0 2 Delayed_speech_and_language_development 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Atypical behavior Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 2 2 1.0000 condition_record_support_limited 20 0 2 Atypical_behavior 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNE2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene SYNE1 mondo_mondo_0017593_medgen_c3468114_orphanet_300605 Juvenile amyotrophic lateral sclerosis MONDO:MONDO:0017593,MedGen:C3468114,Orphanet:300605 2 2 1.0000 condition_record_support_limited 20 0 1 Juvenile_amyotrophic_lateral_sclerosis 379 large_gene_or_donor_burden_stress_case donor_burden_stress SYNE1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 379 large_gene_or_donor_burden_stress_case donor_burden_stress SYNE1 human_phenotype_ontology_hp_0011442_medgen_c4023354 Abnormal central motor function Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 2 2 1.0000 condition_record_support_limited 20 0 1 Abnormal_central_motor_function 379 large_gene_or_donor_burden_stress_case donor_burden_stress SYN3 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene SYN1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYK mondo_mondo_0030308_medgen_c5543581_omim_619381_orphanet_695807 Immunodeficiency 82 with systemic inflammation MONDO:MONDO:0030308,MedGen:C5543581,OMIM:619381,Orphanet:695807 2 2 1.0000 condition_record_support_limited 20 0 2 Immunodeficiency_82_with_systemic_inflammation 3 low_record_burden_interpretation_limited low_record_burden_gene SYCP2L mondo_mondo_0970995_medgen_c5935624_omim_620840 Premature ovarian failure 24 MONDO:MONDO:0970995,MedGen:C5935624,OMIM:620840 2 2 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure_24 3 low_record_burden_interpretation_limited low_record_burden_gene SYCP2 human_phenotype_ontology_hp_0030974_medgen_c3279550 Cryptozoospermia Human_Phenotype_Ontology:HP:0030974,MedGen:C3279550 2 2 1.0000 condition_record_support_limited 20 0 2 Cryptozoospermia 6 low_record_burden_interpretation_limited low_record_burden_gene SYCE1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene SYCE1 mondo_mondo_0014847_medgen_c4310779_omim_616950 Spermatogenic failure 15 MONDO:MONDO:0014847,MedGen:C4310779,OMIM:616950 2 2 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_15 7 low_record_burden_interpretation_limited low_record_burden_gene SVIL condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene SVIL mondo_mondo_0033620_medgen_c5436656_omim_619040 Myofibrillar myopathy 10 MONDO:MONDO:0033620,MedGen:C5436656,OMIM:619040 2 2 1.0000 condition_record_support_limited 20 0 0 Myofibrillar_myopathy_10 5 low_record_burden_interpretation_limited low_record_burden_gene SVBP human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 2 Microcephaly 6 low_record_burden_interpretation_limited low_record_burden_gene SVBP human_phenotype_ontology_hp_0002061_medgen_c1271100 Lower limb spasticity Human_Phenotype_Ontology:HP:0002061,MedGen:C1271100 2 2 1.0000 condition_record_support_limited 20 0 2 Lower_limb_spasticity 6 low_record_burden_interpretation_limited low_record_burden_gene SVBP human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 6 low_record_burden_interpretation_limited low_record_burden_gene SURF1 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_disease 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUPT7L mondo_mondo_0700301_medgen_c6012706_omim_621130 Fischer-Zirnsak progeroid syndrome MONDO:MONDO:0700301,MedGen:C6012706,OMIM:621130 2 2 1.0000 condition_record_support_limited 20 0 0 Fischer-Zirnsak_progeroid_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene SUPT16H condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene SUOX mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUN5 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene SUGCT mondo_mondo_0009283_medgen_c0342873_omim_231690_orphanet_35706 Glutaryl-CoA oxidase deficiency MONDO:MONDO:0009283,MedGen:C0342873,OMIM:231690,Orphanet:35706 2 2 1.0000 condition_record_support_limited 20 0 0 Glutaryl-CoA_oxidase_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene SUFU mondo_mondo_0033309_medgen_c4540342_omim_617757 Joubert syndrome 32 MONDO:MONDO:0033309,MedGen:C4540342,OMIM:617757 2 2 1.0000 condition_record_support_limited 20 0 1 Joubert_syndrome_32 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUFU mondo_mondo_0011789_medgen_c3551915_omim_607174_orphanet_263662 Familial meningioma MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174,Orphanet:263662 2 2 1.0000 condition_record_support_limited 20 0 0 Familial_meningioma 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene STXBP2 stxbp2_related_disorder STXBP2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 STXBP2-related_disorder 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP2 mondo_mondo_0019751_medgen_c3890737_orphanet_93665 Autoinflammatory syndrome MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 2 2 1.0000 condition_record_support_limited 20 0 2 Autoinflammatory_syndrome 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 2 2 1.0000 condition_record_support_limited 20 0 2 Spastic_ataxia 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 2 2 1.0000 condition_record_support_limited 20 0 2 Cerebellar_ataxia 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STX11 mondo_mondo_0015541_medgen_c0272199_omim_ps267700_orphanet_158038_orphanet_540 Familial hemophagocytic lymphohistiocytosis MONDO:MONDO:0015541,MedGen:C0272199,OMIM:PS267700,Orphanet:158038,Orphanet:540 2 2 1.0000 condition_record_support_limited 20 0 1 Familial_hemophagocytic_lymphohistiocytosis 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STT3B mondo_mondo_0014271_medgen_c2931007_omim_615597_orphanet_370924 STT3B-congenital disorder of glycosylation MONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597,Orphanet:370924 2 2 1.0000 condition_record_support_limited 20 0 0 STT3B-congenital_disorder_of_glycosylation 2 low_record_burden_interpretation_limited low_record_burden_gene STT3A condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene STT3A mondo_mondo_0014270_medgen_c5561935_omim_615596_orphanet_370921 STT3A-congenital disorder of glycosylation MONDO:MONDO:0014270,MedGen:C5561935,OMIM:615596,Orphanet:370921 2 2 1.0000 condition_record_support_limited 20 0 2 STT3A-congenital_disorder_of_glycosylation 6 low_record_burden_interpretation_limited low_record_burden_gene STRC mondo_mondo_0013070_medgen_c2751811_omim_612997_orphanet_276234 Spermatogenic failure 7 MONDO:MONDO:0013070,MedGen:C2751811,OMIM:612997,Orphanet:276234 2 2 1.0000 condition_record_support_limited 20 0 2 Spermatogenic_failure_7 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture STRC monogenic_hearing_loss Monogenic hearing loss . 2 2 1.0000 condition_record_support_limited 20 0 0 Monogenic_hearing_loss 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture STRADA mondo_mondo_0007295_medgen_c0376532_orphanet_1945 Self-limited epilepsy with centrotemporal spikes MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 2 2 1.0000 condition_record_support_limited 20 0 0 Self-limited_epilepsy_with_centrotemporal_spikes 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STRA6 stra6_related_disorder STRA6-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 STRA6-related_disorder 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STK4 human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 2 2 1.0000 condition_record_support_limited 20 0 0 Severe_combined_immunodeficiency_disease 19 low_record_burden_interpretation_limited low_record_burden_gene STK11 stk11_related_disorder STK11-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 STK11-related_disorder 395 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control STK11 mondo_mondo_0005447_medgen_c0153594 Malignant tumor of testis MONDO:MONDO:0005447,MedGen:C0153594 2 2 1.0000 condition_record_support_limited 20 0 2 Malignant_tumor_of_testis 395 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control STK11 mondo_mondo_0008276_medgen_c1868081_orphanet_329971 Generalized juvenile polyposis/juvenile polyposis coli MONDO:MONDO:0008276,MedGen:C1868081,Orphanet:329971 2 2 1.0000 condition_record_support_limited 20 0 0 Generalized_juvenile_polyposis/juvenile_polyposis_coli 395 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control STK11 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 2 2 1.0000 condition_record_support_limited 20 0 1 Gastric_cancer 395 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control STAT4 mondo_mondo_0957497_medgen_c3898649_omim_620443 Disabling pansclerotic morphea of childhood MONDO:MONDO:0957497,MedGen:C3898649,OMIM:620443 2 2 1.0000 condition_record_support_limited 20 0 1 Disabling_pansclerotic_morphea_of_childhood 2 low_record_burden_interpretation_limited low_record_burden_gene STAT3 mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 2 2 1.0000 condition_record_support_limited 20 0 2 Inherited_Immunodeficiency_Diseases 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAT3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAT3 mondo_mondo_0018037_medgen_c3887645_omim_ps147060_orphanet_331223 Hyper-IgE syndrome MONDO:MONDO:0018037,MedGen:C3887645,OMIM:PS147060,Orphanet:331223 2 2 1.0000 condition_record_support_limited 20 0 2 Hyper-IgE_syndrome 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAT2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAT1 human_phenotype_ontology_hp_0002728_human_phenotype_ontology_hp_0005392_mondo_mondo_0015279_medgen_c0006845_omim_ps114580_orphanet_1334 Chronic mucocutaneous candidiasis Human_Phenotype_Ontology:HP:0002728,Human_Phenotype_Ontology:HP:0005392,MONDO:MONDO:0015279,MedGen:C0006845,OMIM:PS114580,Orphanet:1334 2 2 1.0000 condition_record_support_limited 20 0 1 Chronic_mucocutaneous_candidiasis 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAR mondo_mondo_0010408_medgen_c2678045_omim_300707_orphanet_140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:MONDO:0010408,MedGen:C2678045,OMIM:300707,Orphanet:140952 2 2 1.0000 condition_record_support_limited 20 0 2 Syndactyly-telecanthus-anogenital_and_renal_malformations_syndrome 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAG3 human_phenotype_ontology_hp_0031038_medgen_c4477100 Spermatogenesis maturation arrest Human_Phenotype_Ontology:HP:0031038,MedGen:C4477100 2 2 1.0000 condition_record_support_limited 20 0 2 Spermatogenesis_maturation_arrest 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAG3 human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Premature ovarian insufficiency Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 2 2 1.0000 condition_record_support_limited 20 0 2 Premature_ovarian_insufficiency 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAG3 primary_ovarian_failure_8 PRIMARY OVARIAN FAILURE 8 . 2 2 1.0000 condition_record_support_limited 20 0 1 PRIMARY_OVARIAN_FAILURE_8 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAG1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ST3GAL5 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ST3GAL3 mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 2 2 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SSX1 mondo_mondo_0859477_medgen_c5829558_omim_301099 Spermatogenic failure, X-linked, 5 MONDO:MONDO:0859477,MedGen:C5829558,OMIM:301099 2 2 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure,_X-linked,_5 3 low_record_burden_interpretation_limited low_record_burden_gene SSR4 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene SRY sry_related_disorder SRY-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 SRY-related_disorder 42 single_exon_hotspot_opportunity local_compact_architecture SRY mondo_mondo_0100250_medgen_c2748895_omim_400045 46,XX sex reversal 1 MONDO:MONDO:0100250,MedGen:C2748895,OMIM:400045 2 2 1.0000 condition_record_support_limited 20 0 1 46,XX_sex_reversal_1 42 single_exon_hotspot_opportunity local_compact_architecture SRSF1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 15 low_record_burden_interpretation_limited low_record_burden_gene SRPK3 mondo_mondo_0975828_medgen_c5974891_omim_301134 Intellectual developmental disorder, X-linked 114 MONDO:MONDO:0975828,MedGen:C5974891,OMIM:301134 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder,_X-linked_114 4 low_record_burden_interpretation_limited low_record_burden_gene SRP54 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 7 low_record_burden_interpretation_limited low_record_burden_gene SRFBP1 lox_related_disorder LOX-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 LOX-related_disorder 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SREBF1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene SRD5A3 srd5a3_related_disorder SRD5A3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 SRD5A3-related_disorder 23 compact_adjacent_exon_block_opportunity local_compact_architecture SRD5A3 autosomal_recessive_srd5a3_related_disorders Autosomal recessive SRD5A3-related disorders . 2 2 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_SRD5A3-related_disorders 23 compact_adjacent_exon_block_opportunity local_compact_architecture SRD5A2 human_phenotype_ontology_hp_0000038_human_phenotype_ontology_hp_0000054_medgen_c4551492 Micropenis Human_Phenotype_Ontology:HP:0000038,Human_Phenotype_Ontology:HP:0000054,MedGen:C4551492 2 2 1.0000 condition_record_support_limited 20 0 1 Micropenis 89 compact_adjacent_exon_block_opportunity local_compact_architecture SRD5A2 differences_in_sex_development Differences in sex development . 2 2 1.0000 condition_record_support_limited 20 0 2 Differences_in_sex_development 89 compact_adjacent_exon_block_opportunity local_compact_architecture SQSTM1 mondo_mondo_0014945_medgen_c5399975_omim_617158 Myopathy, distal, with rimmed vacuoles MONDO:MONDO:0014945,MedGen:C5399975,OMIM:617158 2 2 1.0000 condition_record_support_limited 20 0 2 Myopathy,_distal,_with_rimmed_vacuoles 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SQSTM1 mondo_mondo_0014640_medgen_c4225326_omim_616437_orphanet_275864_orphanet_275872_orphanet_803 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 MONDO:MONDO:0014640,MedGen:C4225326,OMIM:616437,Orphanet:275864,Orphanet:275872,Orphanet:803 2 2 1.0000 condition_record_support_limited 20 0 1 Frontotemporal_dementia_and/or_amyotrophic_lateral_sclerosis_3 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SQOR mondo_mondo_0030982_medgen_c5543168_omim_619221 Sulfide quinone oxidoreductase deficiency MONDO:MONDO:0030982,MedGen:C5543168,OMIM:619221 2 2 1.0000 condition_record_support_limited 20 0 0 Sulfide_quinone_oxidoreductase_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene SPTLC1 medgen_c5231533 Neuropathy, hereditary sensory and autonomic, type IA, severe MedGen:C5231533 2 2 1.0000 condition_record_support_limited 20 0 2 Neuropathy,_hereditary_sensory_and_autonomic,_type_IA,_severe 14 low_record_burden_interpretation_limited low_record_burden_gene SPTLC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 14 low_record_burden_interpretation_limited low_record_burden_gene SPTBN2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 56 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTAN1 mondo_mondo_0007295_medgen_c0376532_orphanet_1945 Self-limited epilepsy with centrotemporal spikes MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 2 2 1.0000 condition_record_support_limited 20 0 0 Self-limited_epilepsy_with_centrotemporal_spikes 131 large_gene_or_donor_burden_stress_case donor_burden_stress SPTA1 human_phenotype_ontology_hp_0004444_human_phenotype_ontology_hp_0004816_medgen_c0553720 Spherocytosis Human_Phenotype_Ontology:HP:0004444,Human_Phenotype_Ontology:HP:0004816,MedGen:C0553720 2 2 1.0000 condition_record_support_limited 20 0 1 Spherocytosis 210 large_gene_or_donor_burden_stress_case donor_burden_stress SPTA1 mondo_mondo_0019350_medgen_c0037889_orphanet_822 Hereditary spherocytosis MONDO:MONDO:0019350,MedGen:C0037889,Orphanet:822 2 2 1.0000 condition_record_support_limited 20 0 2 Hereditary_spherocytosis 210 large_gene_or_donor_burden_stress_case donor_burden_stress SPTA1 human_phenotype_ontology_hp_0001878_human_phenotype_ontology_hp_0001910_human_phenotype_ontology_hp_0004827_human_phenotype_ontology_hp_0004853_human_phenotype_ontology_hp_0004868_human_phenotype_ontology_hp_0005503_mondo_mondo_0003664_medgen_c0002878 Hemolytic anemia Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878 2 2 1.0000 condition_record_support_limited 20 0 1 Hemolytic_anemia 210 large_gene_or_donor_burden_stress_case donor_burden_stress SPTA1 human_phenotype_ontology_hp_0004804_human_phenotype_ontology_hp_0004811_human_phenotype_ontology_hp_0004824_mondo_mondo_0003689_medgen_c0002881 Familial hemolytic anemia Human_Phenotype_Ontology:HP:0004804,Human_Phenotype_Ontology:HP:0004811,Human_Phenotype_Ontology:HP:0004824,MONDO:MONDO:0003689,MedGen:C0002881 2 2 1.0000 condition_record_support_limited 20 0 0 Familial_hemolytic_anemia 210 large_gene_or_donor_burden_stress_case donor_burden_stress SPRED1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPPL2A mondo_mondo_0030448_medgen_c5561995_omim_619549 Immunodeficiency 86 MONDO:MONDO:0030448,MedGen:C5561995,OMIM:619549 2 2 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_86 2 low_record_burden_interpretation_limited low_record_burden_gene SPOUT1 mondo_mondo_0976265_medgen_c6012710_omim_621154 Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities MONDO:MONDO:0976265,MedGen:C6012710,OMIM:621154 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_poor_growth,_seizures,_and_brain_abnormalities 6 low_record_burden_interpretation_limited low_record_burden_gene SPINK5 human_phenotype_ontology_hp_0003212_human_phenotype_ontology_hp_0005382_human_phenotype_ontology_hp_0005418_human_phenotype_ontology_hp_0005433_medgen_c0236175 Increased circulating IgE concentration Human_Phenotype_Ontology:HP:0003212,Human_Phenotype_Ontology:HP:0005382,Human_Phenotype_Ontology:HP:0005418,Human_Phenotype_Ontology:HP:0005433,MedGen:C0236175 2 2 1.0000 condition_record_support_limited 20 0 2 Increased_circulating_IgE_concentration 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPINK5 human_phenotype_ontology_hp_0001019_mondo_mondo_0043233_medgen_c0011606 Erythroderma Human_Phenotype_Ontology:HP:0001019,MONDO:MONDO:0043233,MedGen:C0011606 2 2 1.0000 condition_record_support_limited 20 0 2 Erythroderma 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPINK1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene SPINK1 mondo_mondo_0011986_medgen_c1842402_omim_608189_orphanet_103918 Tropical pancreatitis MONDO:MONDO:0011986,MedGen:C1842402,OMIM:608189,Orphanet:103918 2 2 1.0000 condition_record_support_limited 20 0 1 Tropical_pancreatitis 13 low_record_burden_interpretation_limited low_record_burden_gene SPIDR medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 2 2 1.0000 condition_record_support_limited 20 0 0 Genetic_non-acquired_premature_ovarian_failure 7 low_record_burden_interpretation_limited low_record_burden_gene SPI1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG7 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_disease 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG7 mondo_mondo_0100309_medgen_c0004138_orphanet_183518 Hereditary ataxia MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518 2 2 1.0000 condition_record_support_limited 20 0 2 Hereditary_ataxia 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG11 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 2 2 1.0000 condition_record_support_limited 20 0 1 Spastic_paraplegia 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPG11 spg11_related_spastic_paraplegia SPG11-related spastic paraplegia . 2 2 1.0000 condition_record_support_limited 20 0 1 SPG11-related_spastic_paraplegia 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPG11 mondo_mondo_0005066_medgen_c0025517 Metabolic disease MONDO:MONDO:0005066,MedGen:C0025517 2 2 1.0000 condition_record_support_limited 20 0 1 Metabolic_disease 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPG11 mondo_mondo_0017593_medgen_c3468114_orphanet_300605 Juvenile amyotrophic lateral sclerosis MONDO:MONDO:0017593,MedGen:C3468114,Orphanet:300605 2 2 1.0000 condition_record_support_limited 20 0 2 Juvenile_amyotrophic_lateral_sclerosis 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPG11 autosomal_recessive_spg11_related_disorders Autosomal recessive SPG11-related disorders . 2 2 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_SPG11-related_disorders 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPEN human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 101 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPEG speg_related_disorder SPEG-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SPEG-related_disorder 51 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPEG speg_related_congenital_myopathy SPEG-related congenital myopathy . 2 2 1.0000 condition_record_support_limited 20 0 1 SPEG-related_congenital_myopathy 51 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPEF2 spef2_related_disorder SPEF2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 SPEF2-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene SPEF2 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 2 2 1.0000 condition_record_support_limited 20 0 0 Primary_ciliary_dyskinesia 12 low_record_burden_interpretation_limited low_record_burden_gene SPECC1L autosomal_dominant_opitz_g_bbb_syndrome Autosomal dominant Opitz G/BBB syndrome MedGen:CN032444,Orphanet:2745 2 2 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_Opitz_G/BBB_syndrome 14 low_record_burden_interpretation_limited low_record_burden_gene SPATA7 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPATA22 mondo_mondo_0017831_medgen_c4017127_orphanet_314918 Mild Canavan disease MONDO:MONDO:0017831,MedGen:C4017127,Orphanet:314918 2 2 1.0000 condition_record_support_limited 20 0 2 Mild_Canavan_disease 186 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SPATA22 aspa_related_disorder ASPA-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 ASPA-related_disorder 186 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SPAST human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 2 2 1.0000 condition_record_support_limited 20 0 2 Tip-toe_gait 615 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPAST human_phenotype_ontology_hp_0001257_medgen_c0026838 Spasticity Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 2 2 1.0000 condition_record_support_limited 20 0 2 Spasticity 615 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPAST spast_related_spastic_paraplegia SPAST-related spastic paraplegia . 2 2 1.0000 condition_record_support_limited 20 0 1 SPAST-related_spastic_paraplegia 615 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPART spart_related_disorder SPART-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SPART-related_disorder 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPAG8 mondo_mondo_0975810_medgen_c4225399_omim_ps616255 Short stature with nonspecific skeletal abnormalities MONDO:MONDO:0975810,MedGen:C4225399,OMIM:PS616255 2 2 1.0000 condition_record_support_limited 20 0 1 Short_stature_with_nonspecific_skeletal_abnormalities 16 low_record_burden_interpretation_limited low_record_burden_gene SPAG8 npr2_related_disorder NPR2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 NPR2-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene SPAG8 monogenic_short_statue Monogenic short statue . 2 2 1.0000 condition_record_support_limited 20 0 1 Monogenic_short_statue 16 low_record_burden_interpretation_limited low_record_burden_gene SPAG8 mondo_mondo_0014924_medgen_c4310709_omim_617116 Epilepsy, familial focal, with variable foci 2 MONDO:MONDO:0014924,MedGen:C4310709,OMIM:617116 2 2 1.0000 condition_record_support_limited 20 0 2 Epilepsy,_familial_focal,_with_variable_foci_2 16 low_record_burden_interpretation_limited low_record_burden_gene SP9 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 2 2 1.0000 condition_record_support_limited 20 0 2 Hypotonia 5 low_record_burden_interpretation_limited low_record_burden_gene SP9 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 2 2 1.0000 condition_record_support_limited 20 0 2 Epileptic_encephalopathy 5 low_record_burden_interpretation_limited low_record_burden_gene SP9 human_phenotype_ontology_hp_0001346_human_phenotype_ontology_hp_0002353_human_phenotype_ontology_hp_0002429_human_phenotype_ontology_hp_0006841_medgen_c0151611 EEG abnormality Human_Phenotype_Ontology:HP:0001346,Human_Phenotype_Ontology:HP:0002353,Human_Phenotype_Ontology:HP:0002429,Human_Phenotype_Ontology:HP:0006841,MedGen:C0151611 2 2 1.0000 condition_record_support_limited 20 0 2 EEG_abnormality 5 low_record_burden_interpretation_limited low_record_burden_gene SP9 human_phenotype_ontology_hp_0000729_medgen_c0856975 Autistic behavior Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 2 2 1.0000 condition_record_support_limited 20 0 2 Autistic_behavior 5 low_record_burden_interpretation_limited low_record_burden_gene SP6 mondo_mondo_0031084_medgen_c5774246_omim_620104 Amelogenesis imperfecta, IIa 1K MONDO:MONDO:0031084,MedGen:C5774246,OMIM:620104 2 2 1.0000 condition_record_support_limited 20 0 1 Amelogenesis_imperfecta,_IIa_1K 2 low_record_burden_interpretation_limited low_record_burden_gene SP140 medgen_c1834752_omim_607948 Mycobacterium tuberculosis, susceptibility to MedGen:C1834752,OMIM:607948 2 2 1.0000 condition_record_support_limited 20 0 2 Mycobacterium_tuberculosis,_susceptibility_to 18 low_record_burden_interpretation_limited low_record_burden_gene SP110 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX5 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX5 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 2 2 1.0000 condition_record_support_limited 20 0 2 Generalized_hypotonia 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX4 sox4_related_disorder SOX4-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 SOX4-related_disorder 25 single_exon_hotspot_opportunity local_compact_architecture SOX2 sox2_related_disorder SOX2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 SOX2-related_disorder 102 single_exon_hotspot_opportunity local_compact_architecture SOX2 human_phenotype_ontology_hp_0000528_human_phenotype_ontology_hp_0001485_human_phenotype_ontology_hp_0007664_medgen_c0003119 Anophthalmia Human_Phenotype_Ontology:HP:0000528,Human_Phenotype_Ontology:HP:0001485,Human_Phenotype_Ontology:HP:0007664,MedGen:C0003119 2 2 1.0000 condition_record_support_limited 20 0 1 Anophthalmia 102 single_exon_hotspot_opportunity local_compact_architecture SOX11 mondo_mondo_0007617_medgen_c3281201_omim_135900_orphanet_1465 Coffin-Siris syndrome 1 MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900,Orphanet:1465 2 2 1.0000 condition_record_support_limited 20 0 0 Coffin-Siris_syndrome_1 84 single_exon_hotspot_opportunity local_compact_architecture SOX10 mondo_mondo_0010192_medgen_c1848519_omim_277580_orphanet_897 Waardenburg syndrome type 4A MONDO:MONDO:0010192,MedGen:C1848519,OMIM:277580,Orphanet:897 2 2 1.0000 condition_record_support_limited 20 0 0 Waardenburg_syndrome_type_4A 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX10 mondo_mondo_0018800_medgen_c0162809_orphanet_478 Hypogonadism with anosmia MONDO:MONDO:0018800,MedGen:C0162809,Orphanet:478 2 2 1.0000 condition_record_support_limited 20 0 1 Hypogonadism_with_anosmia 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX10 deafness_with_anatomical_inner_ear_anomalies Deafness with anatomical inner ear anomalies . 2 2 1.0000 condition_record_support_limited 20 0 1 Deafness_with_anatomical_inner_ear_anomalies 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOST mondo_mondo_0021021_medgen_c2675746_omim_122860_orphanet_1513 Craniodiaphyseal dysplasia, autosomal dominant MONDO:MONDO:0021021,MedGen:C2675746,OMIM:122860,Orphanet:1513 2 2 1.0000 condition_record_support_limited 20 0 1 Craniodiaphyseal_dysplasia,_autosomal_dominant 7 low_record_burden_interpretation_limited low_record_burden_gene SOS1 mondo_mondo_0012371_medgen_c1860991_omim_609942_orphanet_648 Noonan syndrome 3 MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648 2 2 1.0000 condition_record_support_limited 20 0 2 Noonan_syndrome_3 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SORD mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene SOHLH1 nonsyndromic_hypergonadotropic_hypogonadism Nonsyndromic hypergonadotropic hypogonadism . 2 2 1.0000 condition_record_support_limited 20 0 2 Nonsyndromic_hypergonadotropic_hypogonadism 5 low_record_burden_interpretation_limited low_record_burden_gene SOCS1 human_phenotype_ontology_hp_0002725_mondo_mondo_0007915_medgen_c0024141_omim_152700_orphanet_536 Systemic lupus erythematosus Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536 2 2 1.0000 condition_record_support_limited 20 0 2 Systemic_lupus_erythematosus 13 low_record_burden_interpretation_limited low_record_burden_gene SOCS1 human_phenotype_ontology_hp_0001936_human_phenotype_ontology_hp_0001973_human_phenotype_ontology_hp_0004806_human_phenotype_ontology_hp_0004829_mondo_mondo_0019098_medgen_c0242584_orphanet_71203 Autoimmune thrombocytopenia Human_Phenotype_Ontology:HP:0001936,Human_Phenotype_Ontology:HP:0001973,Human_Phenotype_Ontology:HP:0004806,Human_Phenotype_Ontology:HP:0004829,MONDO:MONDO:0019098,MedGen:C0242584,Orphanet:71203 2 2 1.0000 condition_record_support_limited 20 0 2 Autoimmune_thrombocytopenia 13 low_record_burden_interpretation_limited low_record_burden_gene SOCS1 human_phenotype_ontology_hp_0001890_mondo_mondo_0020108_medgen_c0002880_omim_205700_orphanet_98375 Autoimmune hemolytic anemia Human_Phenotype_Ontology:HP:0001890,MONDO:MONDO:0020108,MedGen:C0002880,OMIM:205700,Orphanet:98375 2 2 1.0000 condition_record_support_limited 20 0 2 Autoimmune_hemolytic_anemia 13 low_record_burden_interpretation_limited low_record_burden_gene SNX14 snx14_related_disorder SNX14-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SNX14-related_disorder 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNUPN condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene SNRPA spliceosomepathy Spliceosomepathy . 2 2 1.0000 condition_record_support_limited 20 0 0 Spliceosomepathy 2 low_record_burden_interpretation_limited low_record_burden_gene SNORD118 mondo_mondo_0033044_medgen_c4539714_omim_617562 Meckel syndrome 13 MONDO:MONDO:0033044,MedGen:C4539714,OMIM:617562 2 2 1.0000 condition_record_support_limited 20 0 2 Meckel_syndrome_13 28 single_exon_hotspot_opportunity local_compact_architecture SNF8 snf8_associated_disorder SNF8-associated disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SNF8-associated_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene SNAPC4 snapc4_related_condition SNAPC4 related condition . 2 2 1.0000 condition_record_support_limited 20 0 0 SNAPC4_related_condition 11 low_record_burden_interpretation_limited low_record_burden_gene SNAP29 mondo_mondo_0012125_medgen_c1837355_omim_608804_orphanet_280270_orphanet_280282 Hypomyelinating leukodystrophy 2 MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804,Orphanet:280270,Orphanet:280282 2 2 1.0000 condition_record_support_limited 20 0 2 Hypomyelinating_leukodystrophy_2 22 compact_adjacent_exon_block_opportunity local_compact_architecture SNAP25 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMPD1 medgen_c2675646 Niemann-pick disease, intermediate, protracted neurovisceral MedGen:C2675646 2 2 1.0000 condition_record_support_limited 20 0 2 Niemann-pick_disease,_intermediate,_protracted_neurovisceral 386 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMPD1 mondo_mondo_0009757_medgen_c3179455_omim_257220_orphanet_646 Niemann-Pick disease, type C1 MONDO:MONDO:0009757,MedGen:C3179455,OMIM:257220,Orphanet:646 2 2 1.0000 condition_record_support_limited 20 0 2 Niemann-Pick_disease,_type_C1 386 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMPD1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 386 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMOC2 mondo_mondo_0007436_medgen_c0399379_omim_ps125400_orphanet_314721_orphanet_99789 Dentin dysplasia type I MONDO:MONDO:0007436,MedGen:C0399379,OMIM:PS125400,Orphanet:314721,Orphanet:99789 2 2 1.0000 condition_record_support_limited 20 0 1 Dentin_dysplasia_type_I 4 low_record_burden_interpretation_limited low_record_burden_gene SMO medgen_c3838465 Basal cell carcinoma, somatic MedGen:C3838465 2 2 1.0000 condition_record_support_limited 20 0 0 Basal_cell_carcinoma,_somatic 11 low_record_burden_interpretation_limited low_record_burden_gene SMCHD1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 140 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SMCHD1 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 2 2 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_musculature 140 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SMC3 smc3_related_disorder SMC3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 SMC3-related_disorder 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMC1A mondo_mondo_0011518_medgen_c1854630_omim_605130_orphanet_319182 Wiedemann-Steiner syndrome MONDO:MONDO:0011518,MedGen:C1854630,OMIM:605130,Orphanet:319182 2 2 1.0000 condition_record_support_limited 20 0 1 Wiedemann-Steiner_syndrome 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMC1A smc1a_related_cohesinopathy SMC1A-related cohesinopathy . 2 2 1.0000 condition_record_support_limited 20 0 1 SMC1A-related_cohesinopathy 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMC1A human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 2 Microcephaly 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCD1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene SMARCAL1 human_phenotype_ontology_hp_0012588_mondo_mondo_0044765_medgen_c0403397 Steroid-resistant nephrotic syndrome Human_Phenotype_Ontology:HP:0012588,MONDO:MONDO:0044765,MedGen:C0403397 2 2 1.0000 condition_record_support_limited 20 0 2 Steroid-resistant_nephrotic_syndrome 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCAL1 human_phenotype_ontology_hp_0001422_human_phenotype_ontology_hp_0001518_human_phenotype_ontology_hp_0008849_human_phenotype_ontology_hp_0008919_human_phenotype_ontology_hp_0008927_medgen_c0235991 Small for gestational age Human_Phenotype_Ontology:HP:0001422,Human_Phenotype_Ontology:HP:0001518,Human_Phenotype_Ontology:HP:0008849,Human_Phenotype_Ontology:HP:0008919,Human_Phenotype_Ontology:HP:0008927,MedGen:C0235991 2 2 1.0000 condition_record_support_limited 20 0 2 Small_for_gestational_age 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCAL1 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 1.0000 condition_record_support_limited 20 0 2 Short_stature 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCAL1 smarcal1_related_disorder SMARCAL1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SMARCAL1-related_disorder 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCAL1 human_phenotype_ontology_hp_0011451_medgen_c2677180 Primary microcephaly Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 2 2 1.0000 condition_record_support_limited 20 0 2 Primary_microcephaly 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCAL1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 2 Microcephaly 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCAL1 mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 2 2 1.0000 condition_record_support_limited 20 0 2 Inherited_Immunodeficiency_Diseases 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCAL1 human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 2 2 1.0000 condition_record_support_limited 20 0 2 Focal_segmental_glomerulosclerosis 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCAL1 mondo_mondo_0020290_medgen_cn029142_omim_ps606215_orphanet_98722 Familial atrioventricular septal defect MONDO:MONDO:0020290,MedGen:CN029142,OMIM:PS606215,Orphanet:98722 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_atrioventricular_septal_defect 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCAL1 human_phenotype_ontology_hp_0001524_human_phenotype_ontology_hp_0003500_human_phenotype_ontology_hp_0003521_human_phenotype_ontology_hp_0008923_medgen_c1846435 Disproportionate short-trunk short stature Human_Phenotype_Ontology:HP:0001524,Human_Phenotype_Ontology:HP:0003500,Human_Phenotype_Ontology:HP:0003521,Human_Phenotype_Ontology:HP:0008923,MedGen:C1846435 2 2 1.0000 condition_record_support_limited 20 0 2 Disproportionate_short-trunk_short_stature 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCAL1 human_phenotype_ontology_hp_0001823_human_phenotype_ontology_hp_0001826_human_phenotype_ontology_hp_0004325_medgen_c5574742 Decreased body weight Human_Phenotype_Ontology:HP:0001823,Human_Phenotype_Ontology:HP:0001826,Human_Phenotype_Ontology:HP:0004325,MedGen:C5574742 2 2 1.0000 condition_record_support_limited 20 0 2 Decreased_body_weight 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCAD1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene SMARCAD1 mondo_mondo_0007507_medgen_c0406707_omim_129200_orphanet_1658 Basan syndrome MONDO:MONDO:0007507,MedGen:C0406707,OMIM:129200,Orphanet:1658 2 2 1.0000 condition_record_support_limited 20 0 1 Basan_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene SMARCA5 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene SMARCA5 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 1.0000 condition_record_support_limited 20 0 1 Short_stature 9 low_record_burden_interpretation_limited low_record_burden_gene SMARCA5 smarca5_associated_neurodevelopmental_disorder SMARCA5-associated neurodevelopmental disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 SMARCA5-associated_neurodevelopmental_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene SMARCA5 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene SMARCA4 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 321 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA4 mondo_mondo_0015452_medgen_c0265338_omim_ps135900_orphanet_1465 Coffin-Siris syndrome MONDO:MONDO:0015452,MedGen:C0265338,OMIM:PS135900,Orphanet:1465 2 2 1.0000 condition_record_support_limited 20 0 0 Coffin-Siris_syndrome 321 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA4 medgen_c5680330_orphanet_98555 Anophthalmia-microphthalmia syndrome MedGen:C5680330,Orphanet:98555 2 2 1.0000 condition_record_support_limited 20 0 1 Anophthalmia-microphthalmia_syndrome 321 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA1 condition_not_provided condition not provided MedGen:CN169374 2 2 1.0000 condition_record_support_limited 20 2 0 not_specified 14 low_record_burden_interpretation_limited low_record_burden_gene SMARCA1 mondo_mondo_0019181_medgen_c3501611_omim_ps309530_orphanet_777 Non-syndromic X-linked intellectual disability MONDO:MONDO:0019181,MedGen:C3501611,OMIM:PS309530,Orphanet:777 2 2 1.0000 condition_record_support_limited 20 0 0 Non-syndromic_X-linked_intellectual_disability 14 low_record_burden_interpretation_limited low_record_burden_gene SMAD6 human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 2 2 1.0000 condition_record_support_limited 20 0 2 Heart,_malformation_of 82 compact_adjacent_exon_block_opportunity local_compact_architecture SMAD6 human_phenotype_ontology_hp_0009121_medgen_c4024586 Abnormal axial skeleton morphology Human_Phenotype_Ontology:HP:0009121,MedGen:C4024586 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_axial_skeleton_morphology 82 compact_adjacent_exon_block_opportunity local_compact_architecture SMAD4 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 2 2 1.0000 condition_record_support_limited 20 0 0 Gastric_cancer 300 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SMAD4 mondo_mondo_0015278_medgen_c2931038_omim_260350_orphanet_1333 Familial pancreatic carcinoma MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_pancreatic_carcinoma 300 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SMAD4 mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 2 2 1.0000 condition_record_support_limited 20 0 1 Carcinoma_of_colon 300 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SMAD3 thoracic_aortic_aneurysm_or_dissection Thoracic aortic aneurysm or dissection . 2 2 1.0000 condition_record_support_limited 20 0 1 Thoracic_aortic_aneurysm_or_dissection 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD3 smad3_related_disorder SMAD3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 SMAD3-related_disorder 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD3 mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 Ehlers-Danlos syndrome MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 2 2 1.0000 condition_record_support_limited 20 0 1 Ehlers-Danlos_syndrome 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD3 mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 2 2 1.0000 condition_record_support_limited 20 0 2 Connective_tissue_disorder 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD3 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 2 2 1.0000 condition_record_support_limited 20 0 0 Cardiovascular_phenotype 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD2 smad2_related_disorder SMAD2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SMAD2-related_disorder 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD2 mondo_mondo_0018954_medgen_c2697932_omim_ps609192_orphanet_60030 Loeys-Dietz syndrome MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030 2 2 1.0000 condition_record_support_limited 20 0 2 Loeys-Dietz_syndrome 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLITRK6 slitrk6_related_disorder SLITRK6-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 SLITRK6-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene SLITRK1 mondo_mondo_0007661_medgen_c0040517_omim_137580 Tourette syndrome MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580 2 2 1.0000 condition_record_support_limited 20 0 1 Tourette_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene SLIT2 mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 2 2 1.0000 condition_record_support_limited 20 0 0 Congenital_anomaly_of_kidney_and_urinary_tract 2 low_record_burden_interpretation_limited low_record_burden_gene SLFN14 human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 2 2 1.0000 condition_record_support_limited 20 0 2 Thrombocytopenia 4 low_record_burden_interpretation_limited low_record_burden_gene SLFN14 human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_bleeding 4 low_record_burden_interpretation_limited low_record_burden_gene SLCO1B1 condition_not_provided condition not provided .|MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 See_cases|not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene SLC9B1 mondo_mondo_0011502_medgen_c1858028_omim_604928_orphanet_3463 Wolfram syndrome 2 MONDO:MONDO:0011502,MedGen:C1858028,OMIM:604928,Orphanet:3463 2 2 1.0000 condition_record_support_limited 20 0 0 Wolfram_syndrome_2 3 low_record_burden_interpretation_limited low_record_burden_gene SLC9A7 mondo_mondo_0026723_medgen_c5193009_omim_301024 Intellectual developmental disorder, X-linked 108 MONDO:MONDO:0026723,MedGen:C5193009,OMIM:301024 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_developmental_disorder,_X-linked_108 2 low_record_burden_interpretation_limited low_record_burden_gene SLC9A6 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC9A6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC7A8 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 1.0000 condition_record_support_limited 20 0 0 Short_stature 3 low_record_burden_interpretation_limited low_record_burden_gene SLC7A14 mondo_mondo_0014323_medgen_c3810380_omim_615725_orphanet_791 Retinitis pigmentosa 68 MONDO:MONDO:0014323,MedGen:C3810380,OMIM:615725,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa_68 4 low_record_burden_interpretation_limited low_record_burden_gene SLC7A14 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 4 low_record_burden_interpretation_limited low_record_burden_gene SLC6A6 human_phenotype_ontology_hp_0000546_human_phenotype_ontology_hp_0007632_human_phenotype_ontology_hp_0007863_mondo_mondo_0004580_mesh_d012162_medgen_c0035304 Retinal degeneration Human_Phenotype_Ontology:HP:0000546,Human_Phenotype_Ontology:HP:0007632,Human_Phenotype_Ontology:HP:0007863,MONDO:MONDO:0004580,MeSH:D012162,MedGen:C0035304 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_degeneration 3 low_record_burden_interpretation_limited low_record_burden_gene SLC6A6 mondo_mondo_0007777_medgen_c5542181_omim_145350 Hypotaurinemic retinal degeneration and cardiomyopathy MONDO:MONDO:0007777,MedGen:C5542181,OMIM:145350 2 2 1.0000 condition_record_support_limited 20 0 2 Hypotaurinemic_retinal_degeneration_and_cardiomyopathy 3 low_record_burden_interpretation_limited low_record_burden_gene SLC6A5 slc6a5_related_disorder SLC6A5-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 SLC6A5-related_disorder 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A5 human_phenotype_ontology_hp_0002267_medgen_c1740801 Exaggerated startle response Human_Phenotype_Ontology:HP:0002267,MedGen:C1740801 2 2 1.0000 condition_record_support_limited 20 0 1 Exaggerated_startle_response 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A17 mondo_mondo_0014559_medgen_c4225395_omim_616269_orphanet_457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome MONDO:MONDO:0014559,MedGen:C4225395,OMIM:616269,Orphanet:457212 2 2 1.0000 condition_record_support_limited 20 0 0 Progressive_essential_tremor-speech_impairment-facial_dysmorphism-intellectual_disability-abnormal_behavior_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene SLC6A1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC5A5 slc5a5_related_disorder SLC5A5-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SLC5A5-related_disorder 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC5A1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC52A2 slc52a2_related_disorder SLC52A2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SLC52A2-related_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC52A2 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_disease 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC4A3 mondo_mondo_0859368_medgen_c5774304_omim_620231 Short QT syndrome 7 MONDO:MONDO:0859368,MedGen:C5774304,OMIM:620231 2 2 1.0000 condition_record_support_limited 20 0 0 Short_QT_syndrome_7 2 low_record_burden_interpretation_limited low_record_burden_gene SLC4A2 mondo_mondo_0957262_medgen_c5830487_omim_620366 Osteopetrosis, autosomal recessive 9 MONDO:MONDO:0957262,MedGen:C5830487,OMIM:620366 2 2 1.0000 condition_record_support_limited 20 0 0 Osteopetrosis,_autosomal_recessive_9 3 low_record_burden_interpretation_limited low_record_burden_gene SLC4A10 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene SLC4A1 human_phenotype_ontology_hp_0001947_mondo_mondo_0001909_medgen_c0001126 Renal tubular acidosis Human_Phenotype_Ontology:HP:0001947,MONDO:MONDO:0001909,MedGen:C0001126 2 2 1.0000 condition_record_support_limited 20 0 2 Renal_tubular_acidosis 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC4A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC45A2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 112 compact_adjacent_exon_block_opportunity local_compact_architecture SLC40A1 slc40a1_related_disorder SLC40A1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SLC40A1-related_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC3A1 human_phenotype_ontology_hp_0000112_mondo_mondo_0005240_medgen_c0022658 Kidney disorder Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658 2 2 1.0000 condition_record_support_limited 20 0 1 Kidney_disorder 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC3A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC39A4 slc39a4_related_disorder SLC39A4-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SLC39A4-related_disorder 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC39A4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC39A14 human_phenotype_ontology_hp_0005890_mondo_mondo_0007765_medgen_c1840404_omim_144755_orphanet_443098 Hyperostosis cranialis interna Human_Phenotype_Ontology:HP:0005890,MONDO:MONDO:0007765,MedGen:C1840404,OMIM:144755,Orphanet:443098 2 2 1.0000 condition_record_support_limited 20 0 1 Hyperostosis_cranialis_interna 13 low_record_burden_interpretation_limited low_record_burden_gene SLC38A8 medgen_c4017389 Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis MedGen:C4017389 2 2 1.0000 condition_record_support_limited 20 0 1 Foveal_hypoplasia_2_and_optic_nerve_misrouting_with_or_without_anterior_segment_dysgenesis 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC38A8 human_phenotype_ontology_hp_0007750_mondo_mondo_0044203_medgen_c2673946_omim_ps136520 Foveal hypoplasia Human_Phenotype_Ontology:HP:0007750,MONDO:MONDO:0044203,MedGen:C2673946,OMIM:PS136520 2 2 1.0000 condition_record_support_limited 20 0 2 Foveal_hypoplasia 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC38A8 foveal_hypoplasia_2_with_optic_nerve_misrouting_and_anterior_segment_dysgenesis FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS . 2 2 1.0000 condition_record_support_limited 20 0 1 FOVEAL_HYPOPLASIA_2_WITH_OPTIC_NERVE_MISROUTING_AND_ANTERIOR_SEGMENT_DYSGENESIS 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC35C1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene SLC34A3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC33A1 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 2 2 1.0000 condition_record_support_limited 20 0 1 Spastic_paraplegia 10 low_record_burden_interpretation_limited low_record_burden_gene SLC32A1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 2 Seizure 6 low_record_burden_interpretation_limited low_record_burden_gene SLC32A1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 6 low_record_burden_interpretation_limited low_record_burden_gene SLC32A1 mondo_mondo_0958324_medgen_c5935592_omim_620755 Generalized epilepsy with febrile seizures plus, type 12 MONDO:MONDO:0958324,MedGen:C5935592,OMIM:620755 2 2 1.0000 condition_record_support_limited 20 0 2 Generalized_epilepsy_with_febrile_seizures_plus,_type_12 6 low_record_burden_interpretation_limited low_record_burden_gene SLC32A1 mondo_mondo_0018214_medgen_c3502809_omim_ps604233_orphanet_36387 Generalized epilepsy with febrile seizures plus MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233,Orphanet:36387 2 2 1.0000 condition_record_support_limited 20 0 2 Generalized_epilepsy_with_febrile_seizures_plus 6 low_record_burden_interpretation_limited low_record_burden_gene SLC32A1 mondo_mondo_0958331_medgen_c5935598_omim_620774 Developmental and epileptic encephalopathy 114 MONDO:MONDO:0958331,MedGen:C5935598,OMIM:620774 2 2 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy_114 6 low_record_burden_interpretation_limited low_record_burden_gene SLC31A1 mondo_mondo_0957211_medgen_c5830385_omim_620306 Neurodegeneration and seizures due to copper transport defect MONDO:MONDO:0957211,MedGen:C5830385,OMIM:620306 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodegeneration_and_seizures_due_to_copper_transport_defect 2 low_record_burden_interpretation_limited low_record_burden_gene SLC30A7 mondo_mondo_0957595_medgen_c5882688_omim_620501 Ziegler-Huang syndrome MONDO:MONDO:0957595,MedGen:C5882688,OMIM:620501 2 2 1.0000 condition_record_support_limited 20 0 2 Ziegler-Huang_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene SLC30A7 mondo_mondo_0859295_medgen_c5774228_omim_620070 Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties MONDO:MONDO:0859295,MedGen:C5774228,OMIM:620070 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_short_stature,_prominent_forehead,_and_feeding_difficulties 6 low_record_burden_interpretation_limited low_record_burden_gene SLC30A5 human_phenotype_ontology_hp_0005099_medgen_c1866048 Severe hydrops fetalis Human_Phenotype_Ontology:HP:0005099,MedGen:C1866048 2 2 1.0000 condition_record_support_limited 20 0 2 Severe_hydrops_fetalis 2 low_record_burden_interpretation_limited low_record_burden_gene SLC30A5 human_phenotype_ontology_hp_0012817_medgen_c1839832 Noncompaction cardiomyopathy Human_Phenotype_Ontology:HP:0012817,MedGen:C1839832 2 2 1.0000 condition_record_support_limited 20 0 2 Noncompaction_cardiomyopathy 2 low_record_burden_interpretation_limited low_record_burden_gene SLC30A5 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 2 2 1.0000 condition_record_support_limited 20 0 2 Hypertrophic_cardiomyopathy 2 low_record_burden_interpretation_limited low_record_burden_gene SLC30A5 human_phenotype_ontology_hp_0001789_mondo_mondo_0015193_medgen_c0020305_orphanet_1041 Hydrops fetalis Human_Phenotype_Ontology:HP:0001789,MONDO:MONDO:0015193,MedGen:C0020305,Orphanet:1041 2 2 1.0000 condition_record_support_limited 20 0 2 Hydrops_fetalis 2 low_record_burden_interpretation_limited low_record_burden_gene SLC30A5 human_phenotype_ontology_hp_0001672_human_phenotype_ontology_hp_0005157_medgen_c0238044 Concentric hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001672,Human_Phenotype_Ontology:HP:0005157,MedGen:C0238044 2 2 1.0000 condition_record_support_limited 20 0 2 Concentric_hypertrophic_cardiomyopathy 2 low_record_burden_interpretation_limited low_record_burden_gene SLC30A2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene SLC30A10 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene SLC2A9 slc2a9_related_disorder SLC2A9-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 SLC2A9-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene SLC2A10 thoracic_aortic_aneurysm_or_dissection Thoracic aortic aneurysm or dissection . 2 2 1.0000 condition_record_support_limited 20 0 2 Thoracic_aortic_aneurysm_or_dissection 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A10 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 2 2 1.0000 condition_record_support_limited 20 0 2 Cardiovascular_phenotype 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC27A4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A7 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene SLC26A7 human_phenotype_ontology_hp_0000851_mondo_mondo_0018612_medgen_c0010308_orphanet_442 Congenital hypothyroidism Human_Phenotype_Ontology:HP:0000851,MONDO:MONDO:0018612,MedGen:C0010308,Orphanet:442 2 2 1.0000 condition_record_support_limited 20 0 0 Congenital_hypothyroidism 4 low_record_burden_interpretation_limited low_record_burden_gene SLC26A4 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 2 2 1.0000 condition_record_support_limited 20 0 2 Sensorineural_hearing_loss_disorder 631 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A3 human_phenotype_ontology_hp_0005214_human_phenotype_ontology_hp_0005239_mondo_mondo_0004565_medgen_c0021843 Intestinal obstruction Human_Phenotype_Ontology:HP:0005214,Human_Phenotype_Ontology:HP:0005239,MONDO:MONDO:0004565,MedGen:C0021843 2 2 1.0000 condition_record_support_limited 20 0 2 Intestinal_obstruction 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A2 mondo_mondo_0100592_medgen_cn379209 SLC26A2-related skeletal dysplasia MONDO:MONDO:0100592,MedGen:CN379209 2 2 1.0000 condition_record_support_limited 20 0 2 SLC26A2-related_skeletal_dysplasia 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A1 idua_related_disorder IDUA-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 IDUA-related_disorder 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A46 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A42 mondo_mondo_0032736_medgen_c5193083_omim_618416 Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression MONDO:MONDO:0032736,MedGen:C5193083,OMIM:618416 2 2 1.0000 condition_record_support_limited 20 0 1 Metabolic_crises,_recurrent,_with_variable_encephalomyopathic_features_and_neurologic_regression 4 low_record_burden_interpretation_limited low_record_burden_gene SLC25A4 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_disease 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A38 slc25a38_related_disorder SLC25A38-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SLC25A38-related_disorder 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A36 mondo_mondo_0859362_medgen_c5774299_omim_620211 Hyperinsulinemic hypoglycemia, familial, 8 MONDO:MONDO:0859362,MedGen:C5774299,OMIM:620211 2 2 1.0000 condition_record_support_limited 20 0 0 Hyperinsulinemic_hypoglycemia,_familial,_8 2 low_record_burden_interpretation_limited low_record_burden_gene SLC25A24 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene SLC25A24 mondo_mondo_0012853_medgen_c2676780_omim_612289_orphanet_2095 Fontaine progeroid syndrome MONDO:MONDO:0012853,MedGen:C2676780,OMIM:612289,Orphanet:2095 2 2 1.0000 condition_record_support_limited 20 0 2 Fontaine_progeroid_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene SLC25A15 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A10 mondo_mondo_0033545_medgen_c5436514_omim_618972 Mitochondrial DNA depletion syndrome 19 MONDO:MONDO:0033545,MedGen:C5436514,OMIM:618972 2 2 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_DNA_depletion_syndrome_19 3 low_record_burden_interpretation_limited low_record_burden_gene SLC25A1 slc25a1_related_disorder SLC25A1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 SLC25A1-related_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC24A1 slc24a1_related_disorder SLC24A1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SLC24A1-related_disorder 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC24A1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC24A1 mondo_mondo_0008099_medgen_c1876182_omim_163500_orphanet_215 Congenital stationary night blindness autosomal dominant 2 MONDO:MONDO:0008099,MedGen:C1876182,OMIM:163500,Orphanet:215 2 2 1.0000 condition_record_support_limited 20 0 1 Congenital_stationary_night_blindness_autosomal_dominant_2 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC22A12 slc22a12_related_disorder SLC22A12-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SLC22A12-related_disorder 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC22A12 mondo_mondo_0009071_medgen_c4551590_orphanet_94088 Familial renal hypouricemia MONDO:MONDO:0009071,MedGen:C4551590,Orphanet:94088 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_renal_hypouricemia 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC20A2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC1A4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 32 compact_adjacent_exon_block_opportunity local_compact_architecture SLC1A3 mondo_mondo_0012982_medgen_c2675211_omim_612656_orphanet_209967 Episodic ataxia type 6 MONDO:MONDO:0012982,MedGen:C2675211,OMIM:612656,Orphanet:209967 2 2 1.0000 condition_record_support_limited 20 0 0 Episodic_ataxia_type_6 2 low_record_burden_interpretation_limited low_record_burden_gene SLC19A1 col18a1_related_disorder COL18A1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 COL18A1-related_disorder 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC18A3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene SLC18A2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 13 low_record_burden_interpretation_limited low_record_burden_gene SLC16A2 slc16a2_related_disorder SLC16A2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 SLC16A2-related_disorder 112 compact_adjacent_exon_block_opportunity local_compact_architecture SLC16A12 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene SLC16A1 medgen_c4016683 Monocarboxylate transporter 1 deficiency, autosomal recessive MedGen:C4016683 2 2 1.0000 condition_record_support_limited 20 0 2 Monocarboxylate_transporter_1_deficiency,_autosomal_recessive 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC14A1 slc14a1_related_disorder SLC14A1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 SLC14A1-related_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene SLC13A5 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 2 2 1.0000 condition_record_support_limited 20 0 0 Epileptic_encephalopathy 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A9 mondo_mondo_0020785_medgen_c4748670_omim_618196_orphanet_693912 Capillary malformation-arteriovenous malformation 2 MONDO:MONDO:0020785,MedGen:C4748670,OMIM:618196,Orphanet:693912 2 2 1.0000 condition_record_support_limited 20 0 1 Capillary_malformation-arteriovenous_malformation_2 7 low_record_burden_interpretation_limited low_record_burden_gene SLC12A6 human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Peripheral neuropathy Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 2 2 1.0000 condition_record_support_limited 20 0 1 Peripheral_neuropathy 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC10A7 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene SKOR2 human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Mild intellectual disability Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 2 2 1.0000 condition_record_support_limited 20 0 2 Mild_intellectual_disability 3 low_record_burden_interpretation_limited low_record_burden_gene SKOR2 human_phenotype_ontology_hp_0002066_human_phenotype_ontology_hp_0002379_medgen_c0751837 Gait ataxia Human_Phenotype_Ontology:HP:0002066,Human_Phenotype_Ontology:HP:0002379,MedGen:C0751837 2 2 1.0000 condition_record_support_limited 20 0 2 Gait_ataxia 3 low_record_burden_interpretation_limited low_record_burden_gene SKOR2 human_phenotype_ontology_hp_0001260_human_phenotype_ontology_hp_0002327_medgen_c0013362 Dysarthria Human_Phenotype_Ontology:HP:0001260,Human_Phenotype_Ontology:HP:0002327,MedGen:C0013362 2 2 1.0000 condition_record_support_limited 20 0 2 Dysarthria 3 low_record_burden_interpretation_limited low_record_burden_gene SKIC3 mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 2 2 1.0000 condition_record_support_limited 20 0 2 Inherited_Immunodeficiency_Diseases 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SKI mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 32 compact_adjacent_exon_block_opportunity local_compact_architecture SKI mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 2 2 1.0000 condition_record_support_limited 20 0 1 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 32 compact_adjacent_exon_block_opportunity local_compact_architecture SIX6 human_phenotype_ontology_hp_0000647_mondo_mondo_0019629_medgen_c1853235_orphanet_91490 Sclerocornea Human_Phenotype_Ontology:HP:0000647,MONDO:MONDO:0019629,MedGen:C1853235,Orphanet:91490 2 2 1.0000 condition_record_support_limited 20 0 2 Sclerocornea 8 low_record_burden_interpretation_limited low_record_burden_gene SIX6 human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 2 2 1.0000 condition_record_support_limited 20 0 2 Developmental_cataract 8 low_record_burden_interpretation_limited low_record_burden_gene SIX5 mondo_mondo_0012575_medgen_c1970479_omim_610896_orphanet_107 Branchiootorenal syndrome 2 MONDO:MONDO:0012575,MedGen:C1970479,OMIM:610896,Orphanet:107 2 2 1.0000 condition_record_support_limited 20 0 0 Branchiootorenal_syndrome_2 2 low_record_burden_interpretation_limited low_record_burden_gene SIX1 six1_related_disorder SIX1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 SIX1-related_disorder 25 compact_adjacent_exon_block_opportunity local_compact_architecture SIRT4 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 30 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SIPA1L3 mondo_mondo_0014799_medgen_c4225182_omim_616851_orphanet_91492 Cataract 45 MONDO:MONDO:0014799,MedGen:C4225182,OMIM:616851,Orphanet:91492 2 2 1.0000 condition_record_support_limited 20 0 0 Cataract_45 2 low_record_burden_interpretation_limited low_record_burden_gene SIN3A sin3a_related_disorder SIN3A-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 SIN3A-related_disorder 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SIM1 mondo_mondo_0018244_medgen_c5191050_orphanet_369873 Obesity due to SIM1 deficiency MONDO:MONDO:0018244,MedGen:C5191050,Orphanet:369873 2 2 1.0000 condition_record_support_limited 20 0 0 Obesity_due_to_SIM1_deficiency 11 low_record_burden_interpretation_limited low_record_burden_gene SIK3 mondo_mondo_0032571_medgen_c4748455_omim_618162 Spondyloepimetaphyseal dysplasia, Krakow type MONDO:MONDO:0032571,MedGen:C4748455,OMIM:618162 2 2 1.0000 condition_record_support_limited 20 0 0 Spondyloepimetaphyseal_dysplasia,_Krakow_type 2 low_record_burden_interpretation_limited low_record_burden_gene SIGMAR1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 27 compact_adjacent_exon_block_opportunity local_compact_architecture SHQ1 mondo_mondo_0859258_medgen_c5677004_omim_619922 Neurodevelopmental disorder with dystonia and seizures MONDO:MONDO:0859258,MedGen:C5677004,OMIM:619922 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_dystonia_and_seizures 3 low_record_burden_interpretation_limited low_record_burden_gene SHOX human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 1.0000 condition_record_support_limited 20 0 1 Short_stature 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SHOC2 mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 Noonan syndrome MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 2 2 1.0000 condition_record_support_limited 20 0 1 Noonan_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene SHOC2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 2 2 1.0000 condition_record_support_limited 20 0 2 Cardiovascular_phenotype 6 low_record_burden_interpretation_limited low_record_burden_gene SHMT2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene SHH human_phenotype_ontology_hp_0010636_mondo_mondo_0010011_medgen_c0266484_omim_269160_orphanet_799 Schizencephaly Human_Phenotype_Ontology:HP:0010636,MONDO:MONDO:0010011,MedGen:C0266484,OMIM:269160,Orphanet:799 2 2 1.0000 condition_record_support_limited 20 0 0 Schizencephaly 125 compact_adjacent_exon_block_opportunity local_compact_architecture SHC1 human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Breast neoplasm Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 2 2 1.0000 condition_record_support_limited 20 0 0 Breast_neoplasm 2 low_record_burden_interpretation_limited low_record_burden_gene SHARPIN mondo_mondo_0968982_medgen_c5935613_omim_620795 Autoinflammation with episodic fever and immune dysregulation MONDO:MONDO:0968982,MedGen:C5935613,OMIM:620795 2 2 1.0000 condition_record_support_limited 20 0 0 Autoinflammation_with_episodic_fever_and_immune_dysregulation 3 low_record_burden_interpretation_limited low_record_burden_gene SHANK2 medgen_c5680471_orphanet_180772 Rare disease with autism MedGen:C5680471,Orphanet:180772 2 2 1.0000 condition_record_support_limited 20 0 1 Rare_disease_with_autism 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SHANK2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SHANK2 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SHANK1 shank1_related_neurodevelopmental_disorder SHANK1-related Neurodevelopmental Disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 SHANK1-related_Neurodevelopmental_Disorder 19 low_record_burden_interpretation_limited low_record_burden_gene SHANK1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene SH3BP2 sh3bp2_related_disorder SH3BP2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SH3BP2-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene SH2D1A mondo_mondo_0010627_medgen_c0549463_orphanet_2442 X-linked lymphoproliferative syndrome MONDO:MONDO:0010627,MedGen:C0549463,Orphanet:2442 2 2 1.0000 condition_record_support_limited 20 0 1 X-linked_lymphoproliferative_syndrome 43 compact_adjacent_exon_block_opportunity local_compact_architecture SH2B3 mondo_mondo_0009692_mesh_d055728_medgen_c0001815_omim_254450_orphanet_824 Primary myelofibrosis MONDO:MONDO:0009692,MeSH:D055728,MedGen:C0001815,OMIM:254450,Orphanet:824 2 2 1.0000 condition_record_support_limited 20 0 0 Primary_myelofibrosis 5 low_record_burden_interpretation_limited low_record_burden_gene SGSM3 mondo_mondo_0980746_medgen_cn380247_omim_620401 Intellectual developmental disorder, autosomal recessive 84 MONDO:MONDO:0980746,MedGen:CN380247,OMIM:620401 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_developmental_disorder,_autosomal_recessive_84 2 low_record_burden_interpretation_limited low_record_burden_gene SGSH human_phenotype_ontology_hp_0001141_human_phenotype_ontology_hp_0007640_human_phenotype_ontology_hp_0007842_human_phenotype_ontology_hp_0007951_human_phenotype_ontology_hp_0008023_medgen_c1301509 Severely reduced visual acuity Human_Phenotype_Ontology:HP:0001141,Human_Phenotype_Ontology:HP:0007640,Human_Phenotype_Ontology:HP:0007842,Human_Phenotype_Ontology:HP:0007951,Human_Phenotype_Ontology:HP:0008023,MedGen:C1301509 2 2 1.0000 condition_record_support_limited 20 0 2 Severely_reduced_visual_acuity 210 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGSH human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy 210 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGSH human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 2 2 1.0000 condition_record_support_limited 20 0 2 Nystagmus 210 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGSH human_phenotype_ontology_hp_0002180_mondo_mondo_0005559_medgen_c0027746 Neurodegeneration Human_Phenotype_Ontology:HP:0002180,MONDO:MONDO:0005559,MedGen:C0027746 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodegeneration 210 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGSH human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 210 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGSH human_phenotype_ontology_hp_0002579_medgen_c1836923 Gastrointestinal dysmotility Human_Phenotype_Ontology:HP:0002579,MedGen:C1836923 2 2 1.0000 condition_record_support_limited 20 0 2 Gastrointestinal_dysmotility 210 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGSH human_phenotype_ontology_hp_0002014_medgen_c0011991 Diarrhea Human_Phenotype_Ontology:HP:0002014,MedGen:C0011991 2 2 1.0000 condition_record_support_limited 20 0 2 Diarrhea 210 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGSH human_phenotype_ontology_hp_0002376_human_phenotype_ontology_hp_0002471_human_phenotype_ontology_hp_0002489_human_phenotype_ontology_hp_0006797_human_phenotype_ontology_hp_0006828_human_phenotype_ontology_hp_0006854_human_phenotype_ontology_hp_0007037_human_phenotype_ontology_hp_0007242_human_phenotype_ontology_hp_0007247_medgen_c1836830 Developmental regression Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830 2 2 1.0000 condition_record_support_limited 20 0 2 Developmental_regression 210 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGSH human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 2 2 1.0000 condition_record_support_limited 20 0 2 Cone-rod_dystrophy 210 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGPL1 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 2 2 1.0000 condition_record_support_limited 20 0 2 Nephrotic_syndrome 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGMS2 mondo_mondo_0800204_medgen_c5193004 Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia MONDO:MONDO:0800204,MedGen:C5193004 2 2 1.0000 condition_record_support_limited 20 0 1 Calvarial_doughnut_lesions_with_bone_fragility_and_spondylometaphyseal_dysplasia 4 low_record_burden_interpretation_limited low_record_burden_gene SGMS1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene SGCE sgce_related_disorder SGCE-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SGCE-related_disorder 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCE mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCD mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 Neuromuscular disease MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 2 2 1.0000 condition_record_support_limited 20 0 2 Neuromuscular_disease 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCD mondo_mondo_0015152_medgen_c2931907_omim_ps253600_orphanet_102015 Autosomal recessive limb-girdle muscular dystrophy MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015 2 2 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_limb-girdle_muscular_dystrophy 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCD human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 2 2 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_musculature 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCB human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_musculature 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCA sgca_related_disorder SGCA-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SGCA-related_disorder 186 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCA human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Muscular dystrophy Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 2 2 1.0000 condition_record_support_limited 20 0 1 Muscular_dystrophy 186 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SFTPC sftpc_related_disorder SFTPC-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 SFTPC-related_disorder 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETX human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 2 2 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETX mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 2 2 1.0000 condition_record_support_limited 20 0 2 Cerebellar_ataxia 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD5 medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 2 2 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_intellectual_disability 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD5 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD5 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD5 moyamoya_angiopathy_with_developmental_delay Moyamoya angiopathy with developmental delay . 2 2 1.0000 condition_record_support_limited 20 0 1 Moyamoya_angiopathy_with_developmental_delay 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD5 mondo_mondo_0007846_medgen_c0220687_omim_148050_orphanet_2332 KBG syndrome MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332 2 2 1.0000 condition_record_support_limited 20 0 0 KBG_syndrome 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD5 medgen_c0008073 Developmental disorder MedGen:C0008073 2 2 1.0000 condition_record_support_limited 20 0 2 Developmental_disorder 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD2 mondo_mondo_0018004_medgen_c5679860_orphanet_329469 Acute megakaryoblastic leukemia without down syndrome MONDO:MONDO:0018004,MedGen:C5679860,Orphanet:329469 2 2 1.0000 condition_record_support_limited 20 0 0 Acute_megakaryoblastic_leukemia_without_down_syndrome 68 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD1B setd1b_related_disorder SETD1B-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 SETD1B-related_disorder 95 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SERPINC1 mondo_mondo_0013199_medgen_c1860707_omim_613254_orphanet_805 Tuberous sclerosis 2 MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805 2 2 1.0000 condition_record_support_limited 20 0 2 Tuberous_sclerosis_2 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINB7 serpinb7_related_disorder SERPINB7-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 SERPINB7-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene SERPINA6 mondo_mondo_0012675_medgen_c1852529_omim_611489_orphanet_199247 Corticosteroid-binding globulin deficiency MONDO:MONDO:0012675,MedGen:C1852529,OMIM:611489,Orphanet:199247 2 2 1.0000 condition_record_support_limited 20 0 0 Corticosteroid-binding_globulin_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene SERPINA1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERAC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEPHS1 mondo_mondo_0980726_medgen_cn379793_omim_621325 Ververi-Brady syndrome 2 MONDO:MONDO:0980726,MedGen:CN379793,OMIM:621325 2 2 1.0000 condition_record_support_limited 20 0 2 Ververi-Brady_syndrome_2 3 low_record_burden_interpretation_limited low_record_burden_gene SEMA3A sema3a_related_disorder SEMA3A-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 SEMA3A-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene SELENON mondo_mondo_0100100_medgen_cn327047 SELENON-related myopathy MONDO:MONDO:0100100,MedGen:CN327047 2 2 1.0000 condition_record_support_limited 20 0 2 SELENON-related_myopathy 112 compact_adjacent_exon_block_opportunity local_compact_architecture SELENON human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Muscular dystrophy Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 2 2 1.0000 condition_record_support_limited 20 0 2 Muscular_dystrophy 112 compact_adjacent_exon_block_opportunity local_compact_architecture SELENON mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 112 compact_adjacent_exon_block_opportunity local_compact_architecture SECISBP2 secisbp2_related_disorder SECISBP2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 SECISBP2-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene SEC63 mondo_mondo_0008265_medgen_c0887850_omim_174050_orphanet_2924 Polycystic liver disease 1 MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924 2 2 1.0000 condition_record_support_limited 20 0 1 Polycystic_liver_disease_1 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEC63 human_phenotype_ontology_hp_0001080_mondo_mondo_0004868_medgen_c0549613 Biliary tract abnormality Human_Phenotype_Ontology:HP:0001080,MONDO:MONDO:0004868,MedGen:C0549613 2 2 1.0000 condition_record_support_limited 20 0 2 Biliary_tract_abnormality 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEC61A1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene SEC61A1 mondo_mondo_0958013_medgen_c5882741_omim_620670_orphanet_697417 Immunodeficiency, common variable, 15 MONDO:MONDO:0958013,MedGen:C5882741,OMIM:620670,Orphanet:697417 2 2 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency,_common_variable,_15 9 low_record_burden_interpretation_limited low_record_burden_gene SEC24D mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDR9C7 medgen_c0020758 Congenital ichthyosis of skin MedGen:C0020758 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_ichthyosis_of_skin 6 low_record_burden_interpretation_limited low_record_burden_gene SDHC sdhc_related_disorder SDHC-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SDHC-related_disorder 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHB human_phenotype_ontology_hp_0002668_human_phenotype_ontology_hp_0002670_human_phenotype_ontology_hp_0003004_mondo_mondo_0000448_medgen_c0030421_omim_ps168000 Paraganglioma Human_Phenotype_Ontology:HP:0002668,Human_Phenotype_Ontology:HP:0002670,Human_Phenotype_Ontology:HP:0003004,MONDO:MONDO:0000448,MedGen:C0030421,OMIM:PS168000 2 2 1.0000 condition_record_support_limited 20 0 2 Paraganglioma 280 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SDHAF1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene SCP2 scp2_related_disorder SCP2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SCP2-related_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCO2 sco2_related_disorder SCO2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SCO2-related_disorder 110 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SCO2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 110 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SCO1 mondo_mondo_0700250_medgen_c5435656_omim_220110 Mitochondrial complex IV deficiency, nuclear type 1 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 2 2 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_IV_deficiency,_nuclear_type_1 13 low_record_burden_interpretation_limited low_record_burden_gene SCNN1G mondo_mondo_0009917_medgen_c5774176_omim_264350_orphanet_171876_orphanet_756 Pseudohypoaldosteronism, type IB1, autosomal recessive MONDO:MONDO:0009917,MedGen:C5774176,OMIM:264350,Orphanet:171876,Orphanet:756 2 2 1.0000 condition_record_support_limited 20 0 1 Pseudohypoaldosteronism,_type_IB1,_autosomal_recessive 16 low_record_burden_interpretation_limited low_record_burden_gene SCNN1A scnn1a_related_disorder SCNN1A-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 SCNN1A-related_disorder 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCNM1 mondo_mondo_0859310_medgen_c5774248_omim_620107 Orofaciodigital syndrome 19 MONDO:MONDO:0859310,MedGen:C5774248,OMIM:620107 2 2 1.0000 condition_record_support_limited 20 0 0 Orofaciodigital_syndrome_19 2 low_record_burden_interpretation_limited low_record_burden_gene SCN9A mondo_mondo_0018214_medgen_c3502809_omim_ps604233_orphanet_36387 Generalized epilepsy with febrile seizures plus MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233,Orphanet:36387 2 2 1.0000 condition_record_support_limited 20 0 2 Generalized_epilepsy_with_febrile_seizures_plus 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 2 2 1.0000 condition_record_support_limited 20 0 2 Epilepsy 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A cognitive_impairment_without_cerebellar_ataxia COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA . 2 2 1.0000 condition_record_support_limited 20 0 2 COGNITIVE_IMPAIRMENT_WITHOUT_CEREBELLAR_ATAXIA 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A mondo_mondo_0000469_medgen_c0428908 Sinoatrial node disorder MONDO:MONDO:0000469,MedGen:C0428908 2 2 1.0000 condition_record_support_limited 20 0 2 Sinoatrial_node_disorder 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 Primary familial dilated cardiomyopathy MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 2 2 1.0000 condition_record_support_limited 20 0 2 Primary_familial_dilated_cardiomyopathy 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 2 2 1.0000 condition_record_support_limited 20 0 0 Primary_dilated_cardiomyopathy 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A mondo_mondo_0100316_medgen_c4551647_omim_192500_orphanet_101016_orphanet_768 Long QT syndrome 1 MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768 2 2 1.0000 condition_record_support_limited 20 0 2 Long_QT_syndrome_1 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A mondo_mondo_0016342_medgen_c4274968_omim_ps107970_orphanet_217656 Familial isolated arrhythmogenic right ventricular dysplasia MONDO:MONDO:0016342,MedGen:C4274968,OMIM:PS107970,Orphanet:217656 2 2 1.0000 condition_record_support_limited 20 0 1 Familial_isolated_arrhythmogenic_right_ventricular_dysplasia 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4B mondo_mondo_0800345_medgen_c4013560 Atrial fibrillation, familial, 17 MONDO:MONDO:0800345,MedGen:C4013560 2 2 1.0000 condition_record_support_limited 20 0 0 Atrial_fibrillation,_familial,_17 2 low_record_burden_interpretation_limited low_record_burden_gene SCN4A mondo_mondo_0100121_medgen_cn294783 SCN4A-related myopathy, autosomal recessive MONDO:MONDO:0100121,MedGen:CN294783 2 2 1.0000 condition_record_support_limited 20 0 2 SCN4A-related_myopathy,_autosomal_recessive 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A mondo_mondo_0020481_medgen_c0752355_orphanet_99734 Myotonia fluctuans MONDO:MONDO:0020481,MedGen:C0752355,Orphanet:99734 2 2 1.0000 condition_record_support_limited 20 0 2 Myotonia_fluctuans 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A mondo_mondo_0020483_medgen_c4275008_orphanet_99736 Acetazolamide-responsive myotonia MONDO:MONDO:0020483,MedGen:C4275008,Orphanet:99736 2 2 1.0000 condition_record_support_limited 20 0 2 Acetazolamide-responsive_myotonia 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN3B mondo_mondo_0800349_medgen_c4013699 Atrial fibrillation, familial, 16 MONDO:MONDO:0800349,MedGen:C4013699 2 2 1.0000 condition_record_support_limited 20 0 0 Atrial_fibrillation,_familial,_16 2 low_record_burden_interpretation_limited low_record_burden_gene SCN3A human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 0 Seizure 36 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN3A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 36 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN3A mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 2 2 1.0000 condition_record_support_limited 20 0 1 Epilepsy 36 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN3A mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 2 2 1.0000 condition_record_support_limited 20 0 2 Developmental_and_epileptic_encephalopathy 36 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A benign_sporadic_infantile_epilepsy benign sporadic infantile epilepsy . 2 2 1.0000 condition_record_support_limited 20 0 1 benign_sporadic_infantile_epilepsy 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A mondo_mondo_0017385_medgen_cn262433_orphanet_293181 Malignant migrating partial seizures of infancy MONDO:MONDO:0017385,MedGen:CN262433,Orphanet:293181 2 2 1.0000 condition_record_support_limited 20 0 2 Malignant_migrating_partial_seizures_of_infancy 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A medgen_c0008073 Developmental disorder MedGen:C0008073 2 2 1.0000 condition_record_support_limited 20 0 2 Developmental_disorder 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A mondo_mondo_0042499_medgen_c4551769_omim_601764_orphanet_306 Benign familial neonatal-infantile seizures 1 MONDO:MONDO:0042499,MedGen:C4551769,OMIM:601764,Orphanet:306 2 2 1.0000 condition_record_support_limited 20 0 2 Benign_familial_neonatal-infantile_seizures_1 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1B scn1b_related_disorder SCN1B-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SCN1B-related_disorder 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN1B mondo_mondo_0014155_medgen_c3809311_omim_615377 Atrial fibrillation, familial, 13 MONDO:MONDO:0014155,MedGen:C3809311,OMIM:615377 2 2 1.0000 condition_record_support_limited 20 0 2 Atrial_fibrillation,_familial,_13 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN1A mondo_mondo_1010117_medgen_c3827273 Sudden unexplained death in childhood MONDO:MONDO:1010117,MedGen:C3827273 2 2 1.0000 condition_record_support_limited 20 0 0 Sudden_unexplained_death_in_childhood 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A mondo_mondo_0100574_medgen_c0014548 Generalized epilepsy MONDO:MONDO:0100574,MedGen:C0014548 2 2 1.0000 condition_record_support_limited 20 0 2 Generalized_epilepsy 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A human_phenotype_ontology_hp_0002358_human_phenotype_ontology_hp_0007359_medgen_c0751495 Focal-onset seizure Human_Phenotype_Ontology:HP:0002358,Human_Phenotype_Ontology:HP:0007359,MedGen:C0751495 2 2 1.0000 condition_record_support_limited 20 0 1 Focal-onset_seizure 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A mondo_mondo_0005384_mesh_d004828_medgen_c0014547 Focal epilepsy MONDO:MONDO:0005384,MeSH:D004828,MedGen:C0014547 2 2 1.0000 condition_record_support_limited 20 0 2 Focal_epilepsy 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A mondo_mondo_0007367_medgen_c1852577_omim_121210 Febrile seizures, familial, 1 MONDO:MONDO:0007367,MedGen:C1852577,OMIM:121210 2 2 1.0000 condition_record_support_limited 20 0 2 Febrile_seizures,_familial,_1 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A mondo_mondo_0000700_medgen_c0338484_omim_ps141500 Familial hemiplegic migraine MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_hemiplegic_migraine 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A mondo_mondo_0010632_medgen_c3463992_omim_308350 Developmental and epileptic encephalopathy, 1 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 2 2 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_1 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 2 2 1.0000 condition_record_support_limited 20 0 2 Autism 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCLT1 sclt1_related_disorder SCLT1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SCLT1-related_disorder 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCLT1 human_phenotype_ontology_hp_0010543_medgen_c0242567 Opsoclonus Human_Phenotype_Ontology:HP:0010543,MedGen:C0242567 2 2 1.0000 condition_record_support_limited 20 0 2 Opsoclonus 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCLT1 human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 2 2 1.0000 condition_record_support_limited 20 0 2 Nystagmus 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCLT1 human_phenotype_ontology_hp_0000540_mondo_mondo_0004891_medgen_c0020490 Hypermetropia Human_Phenotype_Ontology:HP:0000540,MONDO:MONDO:0004891,MedGen:C0020490 2 2 1.0000 condition_record_support_limited 20 0 2 Hypermetropia 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCLT1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCLT1 mondo_mondo_0009436_medgen_c5435677_omim_241800 Congenital hypothalamic hamartoma syndrome MONDO:MONDO:0009436,MedGen:C5435677,OMIM:241800 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_hypothalamic_hamartoma_syndrome 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCLT1 human_phenotype_ontology_hp_0000483_mondo_mondo_0011284_medgen_c0004106_omim_603047 Astigmatism Human_Phenotype_Ontology:HP:0000483,MONDO:MONDO:0011284,MedGen:C0004106,OMIM:603047 2 2 1.0000 condition_record_support_limited 20 0 2 Astigmatism 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCARF2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene SCARB2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAPER condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAMP4 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene SCAF4 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAF4 mondo_mondo_0007103_medgen_c1862939_omim_105400_orphanet_803 Amyotrophic lateral sclerosis type 1 MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803 2 2 1.0000 condition_record_support_limited 20 0 0 Amyotrophic_lateral_sclerosis_type_1 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SBF2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 88 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SBF1 sbf1_related_disorder SBF1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 SBF1-related_disorder 37 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SBDS human_phenotype_ontology_hp_0001744_human_phenotype_ontology_hp_0001745_human_phenotype_ontology_hp_0006269_medgen_c0038002 Splenomegaly Human_Phenotype_Ontology:HP:0001744,Human_Phenotype_Ontology:HP:0001745,Human_Phenotype_Ontology:HP:0006269,MedGen:C0038002 2 2 1.0000 condition_record_support_limited 20 0 2 Splenomegaly 48 compact_adjacent_exon_block_opportunity local_compact_architecture SBDS human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 1.0000 condition_record_support_limited 20 0 2 Short_stature 48 compact_adjacent_exon_block_opportunity local_compact_architecture SBDS human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 2 Microcephaly 48 compact_adjacent_exon_block_opportunity local_compact_architecture SBDS human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 48 compact_adjacent_exon_block_opportunity local_compact_architecture SBDS human_phenotype_ontology_hp_0000490_human_phenotype_ontology_hp_0000663_mondo_mondo_0001210_medgen_c0423224 Deeply set eye Human_Phenotype_Ontology:HP:0000490,Human_Phenotype_Ontology:HP:0000663,MONDO:MONDO:0001210,MedGen:C0423224 2 2 1.0000 condition_record_support_limited 20 0 2 Deeply_set_eye 48 compact_adjacent_exon_block_opportunity local_compact_architecture SBDS human_phenotype_ontology_hp_0000681_human_phenotype_ontology_hp_0006287_human_phenotype_ontology_hp_0006349_human_phenotype_ontology_hp_0008498_medgen_c1290511_omim_206780 Agenesis of permanent teeth Human_Phenotype_Ontology:HP:0000681,Human_Phenotype_Ontology:HP:0006287,Human_Phenotype_Ontology:HP:0006349,Human_Phenotype_Ontology:HP:0008498,MedGen:C1290511,OMIM:206780 2 2 1.0000 condition_record_support_limited 20 0 2 Agenesis_of_permanent_teeth 48 compact_adjacent_exon_block_opportunity local_compact_architecture SATB2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB2 human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Cleft palate Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 2 2 1.0000 condition_record_support_limited 20 0 2 Cleft_palate 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SARS2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene SARS2 mondo_mondo_0013458_medgen_c3151209_omim_613845_orphanet_363694 Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome MONDO:MONDO:0013458,MedGen:C3151209,OMIM:613845,Orphanet:363694 2 2 1.0000 condition_record_support_limited 20 0 0 Hyperuricemia,_pulmonary_hypertension,_renal_failure,_alkalosis_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene SARS1 mondo_mondo_0060577_medgen_c4540188_omim_617709 Neurodevelopmental disorder with microcephaly, ataxia, and seizures MONDO:MONDO:0060577,MedGen:C4540188,OMIM:617709 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_microcephaly,_ataxia,_and_seizures 3 low_record_burden_interpretation_limited low_record_burden_gene SAR1B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SAMD9L samd9l_related_disorder SAMD9L-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 SAMD9L-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene SAMD9 samd9_related_disorder SAMD9-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SAMD9-related_disorder 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SAMD8 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 2 2 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 2 low_record_burden_interpretation_limited low_record_burden_gene SAMD7 mondo_mondo_0958326_medgen_c5935594_omim_620762 Macular dystrophy with or without cone dysfunction MONDO:MONDO:0958326,MedGen:C5935594,OMIM:620762 2 2 1.0000 condition_record_support_limited 20 0 0 Macular_dystrophy_with_or_without_cone_dysfunction 5 low_record_burden_interpretation_limited low_record_burden_gene SALL1 medgen_c1862683 Townes-Brocks-branchiootorenal-like syndrome MedGen:C1862683 2 2 1.0000 condition_record_support_limited 20 0 1 Townes-Brocks-branchiootorenal-like_syndrome 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SALL1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SAG sag_related_disorder SAG-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SAG-related_disorder 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SAG human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SAG mondo_mondo_0013259_medgen_c3150678_omim_613411_orphanet_75382 Oguchi disease-2 MONDO:MONDO:0013259,MedGen:C3150678,OMIM:613411,Orphanet:75382 2 2 1.0000 condition_record_support_limited 20 0 1 Oguchi_disease-2 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture S1PR2 mondo_mondo_0012485_medgen_c1835854_omim_610419_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 68 MONDO:MONDO:0012485,MedGen:C1835854,OMIM:610419,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_nonsyndromic_hearing_loss_68 2 low_record_burden_interpretation_limited low_record_burden_gene RYR2 mondo_mondo_0957430_medgen_c0036346_orphanet_641496 Childhood-onset schizophrenia MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 2 2 1.0000 condition_record_support_limited 20 0 0 Childhood-onset_schizophrenia 254 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 medgen_c2674259 Neuromuscular disease, congenital, with uniform type 1 fiber MedGen:C2674259 2 2 1.0000 condition_record_support_limited 20 0 2 Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 mondo_mondo_0800188_medgen_c5437603_omim_ps145600 Malignant hyperthermia, susceptibility to MONDO:MONDO:0800188,MedGen:C5437603,OMIM:PS145600 2 2 1.0000 condition_record_support_limited 20 0 2 Malignant_hyperthermia,_susceptibility_to 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Delayed gross motor development Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 2 2 1.0000 condition_record_support_limited 20 0 2 Delayed_gross_motor_development 770 large_gene_or_donor_burden_stress_case donor_burden_stress RXYLT1 mondo_mondo_0000171_medgen_c0265221_omim_ps236670_orphanet_899 Walker-Warburg congenital muscular dystrophy MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899 2 2 1.0000 condition_record_support_limited 20 0 2 Walker-Warburg_congenital_muscular_dystrophy 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RXFP2 human_phenotype_ontology_hp_0008686_human_phenotype_ontology_hp_0008689_medgen_c0431663 Bilateral cryptorchidism Human_Phenotype_Ontology:HP:0008686,Human_Phenotype_Ontology:HP:0008689,MedGen:C0431663 2 2 1.0000 condition_record_support_limited 20 0 0 Bilateral_cryptorchidism 2 low_record_burden_interpretation_limited low_record_burden_gene RUVBL1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene RUNX2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 166 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RUNX1 mondo_mondo_0008495_medgen_c0032197_omim_185050_orphanet_734 Storage pool disease of platelets MONDO:MONDO:0008495,MedGen:C0032197,OMIM:185050,Orphanet:734 2 2 1.0000 condition_record_support_limited 20 0 2 Storage_pool_disease_of_platelets 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RTTN human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 1 Microcephaly 82 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RTTN medgen_c4225499 MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES MedGen:C4225499 2 2 1.0000 condition_record_support_limited 20 0 2 MICROCEPHALY,_SHORT_STATURE,_AND_POLYMICROGYRIA_WITH_SEIZURES 82 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RTEL1 mondo_mondo_0100137_medgen_c4727832 Telomere syndrome MONDO:MONDO:0100137,MedGen:C4727832 2 2 1.0000 condition_record_support_limited 20 0 1 Telomere_syndrome 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RTEL1 mondo_mondo_0800366_medgen_c3808802 Dyskeratosis congenita, autosomal dominant 4 MONDO:MONDO:0800366,MedGen:C3808802 2 2 1.0000 condition_record_support_limited 20 0 1 Dyskeratosis_congenita,_autosomal_dominant_4 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RSRC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene RSPO4 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene RSPO2 mondo_mondo_0060732_medgen_c4747923_omim_618021 Tetraamelia syndrome 2 MONDO:MONDO:0060732,MedGen:C4747923,OMIM:618021 2 2 1.0000 condition_record_support_limited 20 0 0 Tetraamelia_syndrome_2 5 low_record_burden_interpretation_limited low_record_burden_gene RSPH4A respiratory_ciliopathies_including_non_cf_bronchiectasis Respiratory ciliopathies including non-CF bronchiectasis . 2 2 1.0000 condition_record_support_limited 20 0 2 Respiratory_ciliopathies_including_non-CF_bronchiectasis 57 compact_adjacent_exon_block_opportunity local_compact_architecture RSPH4A rsph4a_related_disorder RSPH4A-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 RSPH4A-related_disorder 57 compact_adjacent_exon_block_opportunity local_compact_architecture RSPH3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 29 compact_adjacent_exon_block_opportunity local_compact_architecture RSPH3 rsph3_related_disorder RSPH3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 RSPH3-related_disorder 29 compact_adjacent_exon_block_opportunity local_compact_architecture RSPH1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RSPH1 rsph1_related_disorder RSPH1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 RSPH1-related_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RS1 rs1_related_disorder RS1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 RS1-related_disorder 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RRP12 mondo_mondo_0980939_medgen_cn380688_omim_621452 Basal ganglia calcification, idiopathic, 11, autosomal recessive MONDO:MONDO:0980939,MedGen:CN380688,OMIM:621452 2 2 1.0000 condition_record_support_limited 20 0 0 Basal_ganglia_calcification,_idiopathic,_11,_autosomal_recessive 2 low_record_burden_interpretation_limited low_record_burden_gene RRM2B mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_disease 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RRM1 mondo_mondo_0957993_medgen_c5882731_omim_620647 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 MONDO:MONDO:0957993,MedGen:C5882731,OMIM:620647 2 2 1.0000 condition_record_support_limited 20 0 1 Progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions,_autosomal_recessive_6 2 low_record_burden_interpretation_limited low_record_burden_gene RRAS2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene RRAGD hypomagnesemia_7_renal_without_dilated_cardiomyopathy HYPOMAGNESEMIA 7, RENAL, WITHOUT DILATED CARDIOMYOPATHY . 2 2 1.0000 condition_record_support_limited 20 0 0 HYPOMAGNESEMIA_7,_RENAL,_WITHOUT_DILATED_CARDIOMYOPATHY 8 low_record_burden_interpretation_limited low_record_burden_gene RRAGD hypomagnesemia_7_renal_with_dilated_cardiomyopathy HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY . 2 2 1.0000 condition_record_support_limited 20 0 1 HYPOMAGNESEMIA_7,_RENAL,_WITH_DILATED_CARDIOMYOPATHY 8 low_record_burden_interpretation_limited low_record_burden_gene RPUSD3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 2 low_record_burden_interpretation_limited low_record_burden_gene RPSA condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene RPS29 condition_not_provided condition not provided MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene RPS29 mondo_mondo_0014394_medgen_c4014641_omim_615909_orphanet_124 Diamond-Blackfan anemia 13 MONDO:MONDO:0014394,MedGen:C4014641,OMIM:615909,Orphanet:124 2 2 1.0000 condition_record_support_limited 20 0 0 Diamond-Blackfan_anemia_13 4 low_record_burden_interpretation_limited low_record_burden_gene RPS26 mondo_mondo_0011639_medgen_c4225411_omim_606164_orphanet_124 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis MONDO:MONDO:0011639,MedGen:C4225411,OMIM:606164,Orphanet:124 2 2 1.0000 condition_record_support_limited 20 0 2 Diamond-Blackfan_anemia_15_with_mandibulofacial_dysostosis 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS23 mondo_mondo_0044311_medgen_c4479431_omim_617412 Brachycephaly, trichomegaly, and developmental delay MONDO:MONDO:0044311,MedGen:C4479431,OMIM:617412 2 2 1.0000 condition_record_support_limited 20 0 1 Brachycephaly,_trichomegaly,_and_developmental_delay 2 low_record_burden_interpretation_limited low_record_burden_gene RPS20 human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Diamond-Blackfan anemia Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 2 2 1.0000 condition_record_support_limited 20 0 0 Diamond-Blackfan_anemia 7 low_record_burden_interpretation_limited low_record_burden_gene RPL5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL35A human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Diamond-Blackfan anemia Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 2 2 1.0000 condition_record_support_limited 20 0 1 Diamond-Blackfan_anemia 11 low_record_burden_interpretation_limited low_record_burden_gene RPGRIP1 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_disorder 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1 rpgrip1_related_disorder RPGRIP1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 RPGRIP1-related_disorder 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGR retinitis_pigmentosa_sinorespiratory_infections_and_deafness RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS . 2 2 1.0000 condition_record_support_limited 20 0 1 RETINITIS_PIGMENTOSA,_SINORESPIRATORY_INFECTIONS,_AND_DEAFNESS 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGR human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 2 2 1.0000 condition_record_support_limited 20 0 2 Cone-rod_dystrophy 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGR mondo_mondo_0000455_medgen_c0730290_orphanet_1871 Cone dystrophy MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 2 2 1.0000 condition_record_support_limited 20 0 2 Cone_dystrophy 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_disorder 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_eye 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPA1 mondo_mondo_0030690_medgen_c5676927_omim_619767 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 MONDO:MONDO:0030690,MedGen:C5676927,OMIM:619767 2 2 1.0000 condition_record_support_limited 20 0 0 Pulmonary_fibrosis_and/or_bone_marrow_failure,_telomere-related,_6 2 low_record_burden_interpretation_limited low_record_burden_gene RP9 mondo_mondo_0008378_medgen_c1867300_omim_180104_orphanet_791 Retinitis pigmentosa 9 MONDO:MONDO:0008378,MedGen:C1867300,OMIM:180104,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa_9 2 low_record_burden_interpretation_limited low_record_burden_gene RP2 medgen_c0339528 X-linked retinitis pigmentosa MedGen:C0339528 2 2 1.0000 condition_record_support_limited 20 0 2 X-linked_retinitis_pigmentosa 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RP2 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RP1 mondo_mondo_0800399_medgen_cn322605 RP1-related recessive retinopathy MONDO:MONDO:0800399,MedGen:CN322605 2 2 1.0000 condition_record_support_limited 20 0 2 RP1-related_recessive_retinopathy 334 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 334 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ROS1 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 2 2 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 5 low_record_burden_interpretation_limited low_record_burden_gene ROS1 human_phenotype_ontology_hp_0030078_mondo_mondo_0005061_mesh_d000077192_medgen_c0152013 Lung adenocarcinoma Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013 2 2 1.0000 condition_record_support_limited 20 0 0 Lung_adenocarcinoma 5 low_record_burden_interpretation_limited low_record_burden_gene ROBO4 human_phenotype_ontology_hp_0012727_mondo_mondo_0005396_medgen_c0162872 Thoracic aortic aneurysm Human_Phenotype_Ontology:HP:0012727,MONDO:MONDO:0005396,MedGen:C0162872 2 2 1.0000 condition_record_support_limited 20 0 0 Thoracic_aortic_aneurysm 15 low_record_burden_interpretation_limited low_record_burden_gene ROBO1 human_phenotype_ontology_hp_0001636_mondo_mondo_0008542_medgen_c0039685_omim_187500_orphanet_3303 Tetralogy of Fallot Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303 2 2 1.0000 condition_record_support_limited 20 0 2 Tetralogy_of_Fallot 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ROBO1 mondo_mondo_0019828_medgen_c4053775_orphanet_95496 Pituitary stalk interruption syndrome MONDO:MONDO:0019828,MedGen:C4053775,Orphanet:95496 2 2 1.0000 condition_record_support_limited 20 0 0 Pituitary_stalk_interruption_syndrome 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ROBO1 mondo_mondo_0957208_medgen_c5830375_omim_620303 Pituitary hormone deficiency, combined or isolated, 8 MONDO:MONDO:0957208,MedGen:C5830375,OMIM:620303 2 2 1.0000 condition_record_support_limited 20 0 0 Pituitary_hormone_deficiency,_combined_or_isolated,_8 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ROBO1 human_phenotype_ontology_hp_0010958_mondo_mondo_0015986_medgen_c1609433_orphanet_1848 Bilateral renal agenesis Human_Phenotype_Ontology:HP:0010958,MONDO:MONDO:0015986,MedGen:C1609433,Orphanet:1848 2 2 1.0000 condition_record_support_limited 20 0 2 Bilateral_renal_agenesis 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNU7-1 human_phenotype_ontology_hp_0001257_medgen_c0026838 Spasticity Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 2 2 1.0000 condition_record_support_limited 20 0 2 Spasticity 5 low_record_burden_interpretation_limited low_record_burden_gene RNU5B-1 rnu5b_1_related_disorder RNU5B-1 related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 RNU5B-1_related_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene RNU4ATAC human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_disorder 28 single_exon_hotspot_opportunity local_compact_architecture RNU4ATAC rnu4atac_related_disorder RNU4ATAC-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 RNU4ATAC-related_disorder 28 single_exon_hotspot_opportunity local_compact_architecture RNU4ATAC mondo_mondo_0009360_medgen_c3887608_omim_236600_orphanet_2185 Hydrocephalus, nonsyndromic, autosomal recessive 1 MONDO:MONDO:0009360,MedGen:C3887608,OMIM:236600,Orphanet:2185 2 2 1.0000 condition_record_support_limited 20 0 2 Hydrocephalus,_nonsyndromic,_autosomal_recessive_1 28 single_exon_hotspot_opportunity local_compact_architecture RNU4ATAC clasp1_related_disorder CLASP1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CLASP1-related_disorder 28 single_exon_hotspot_opportunity local_compact_architecture RNU4-2 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 30 single_exon_hotspot_opportunity local_compact_architecture RNU12 human_phenotype_ontology_hp_0001251_human_phenotype_ontology_hp_0001253_human_phenotype_ontology_hp_0002513_human_phenotype_ontology_hp_0007050_human_phenotype_ontology_hp_0007157_medgen_c0004134 Ataxia Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MedGen:C0004134 2 2 1.0000 condition_record_support_limited 20 0 0 Ataxia 8 low_record_burden_interpretation_limited low_record_burden_gene RNF31 mondo_mondo_0957981_medgen_c5882724_omim_620632 Immunodeficiency 115 with autoinflammation MONDO:MONDO:0957981,MedGen:C5882724,OMIM:620632 2 2 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_115_with_autoinflammation 3 low_record_burden_interpretation_limited low_record_burden_gene RNF220 mondo_mondo_0030514_medgen_c5562074_omim_619688 Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy MONDO:MONDO:0030514,MedGen:C5562074,OMIM:619688 2 2 1.0000 condition_record_support_limited 20 0 0 Leukodystrophy,_hypomyelinating,_23,_with_ataxia,_deafness,_liver_dysfunction,_and_dilated_cardiomyopathy 2 low_record_burden_interpretation_limited low_record_burden_gene RNF14 mondo_mondo_0021147_medgen_c0694457 Disorder of development or morphogenesis MONDO:MONDO:0021147,MedGen:C0694457 2 2 1.0000 condition_record_support_limited 20 0 1 Disorder_of_development_or_morphogenesis 31 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RNF113A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene RNASET2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene RNASEL mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 3 low_record_burden_interpretation_limited low_record_burden_gene RNASEH2B rnaseh2b_related_disorder RNASEH2B-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 RNASEH2B-related_disorder 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNASEH2B mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 2 2 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RMRP human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Skeletal dysplasia Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 2 2 1.0000 condition_record_support_limited 20 0 1 Skeletal_dysplasia 302 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation RMRP cartilage_hair_hypoplasia_anauxetic_dysplasia_spectrum_disorders Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders MedGen:CN118832 2 2 1.0000 condition_record_support_limited 20 0 2 Cartilage-Hair_Hypoplasia-Anauxetic_Dysplasia_Spectrum_Disorders 302 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation RMND1 human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Nephronophthisis Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 2 2 1.0000 condition_record_support_limited 20 0 1 Nephronophthisis 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLIM mondo_mondo_0019181_medgen_c3501611_omim_ps309530_orphanet_777 Non-syndromic X-linked intellectual disability MONDO:MONDO:0019181,MedGen:C3501611,OMIM:PS309530,Orphanet:777 2 2 1.0000 condition_record_support_limited 20 0 2 Non-syndromic_X-linked_intellectual_disability 12 low_record_burden_interpretation_limited low_record_burden_gene RLIG1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLIG1 mondo_mondo_0100451_medgen_cn305601 CEP290-related ciliopathy MONDO:MONDO:0100451,MedGen:CN305601 2 2 1.0000 condition_record_support_limited 20 0 2 CEP290-related_ciliopathy 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIT1 human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 2 2 1.0000 condition_record_support_limited 20 0 1 Non-immune_hydrops_fetalis 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIPOR2 mondo_mondo_0014675_medgen_c4225298_omim_616515_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 104 MONDO:MONDO:0014675,MedGen:C4225298,OMIM:616515,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_nonsyndromic_hearing_loss_104 2 low_record_burden_interpretation_limited low_record_burden_gene RIF1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 500 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIC3 mondo_mondo_0014522_medgen_c4015424_omim_616188_orphanet_791 Retinal dystrophy and obesity MONDO:MONDO:0014522,MedGen:C4015424,OMIM:616188,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy_and_obesity 11 low_record_burden_interpretation_limited low_record_burden_gene RHOBTB2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 2 Seizure 15 low_record_burden_interpretation_limited low_record_burden_gene RHAG medgen_c1292175 Rh mod blood group phenotype MedGen:C1292175 2 2 1.0000 condition_record_support_limited 20 0 0 Rh_mod_blood_group_phenotype 18 low_record_burden_interpretation_limited low_record_burden_gene RGS9BP human_phenotype_ontology_hp_0030511_mondo_mondo_0012033_medgen_c1842073_omim_ps608415_orphanet_75374 Bradyopsia Human_Phenotype_Ontology:HP:0030511,MONDO:MONDO:0012033,MedGen:C1842073,OMIM:PS608415,Orphanet:75374 2 2 1.0000 condition_record_support_limited 20 0 0 Bradyopsia 3 low_record_burden_interpretation_limited low_record_burden_gene RGS9 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RGS9 mondo_mondo_0958180_medgen_c5829874_omim_608415 Prolonged electroretinal response suppression 1 MONDO:MONDO:0958180,MedGen:C5829874,OMIM:608415 2 2 1.0000 condition_record_support_limited 20 0 1 Prolonged_electroretinal_response_suppression_1 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RGS9 human_phenotype_ontology_hp_0030511_mondo_mondo_0012033_medgen_c1842073_omim_ps608415_orphanet_75374 Bradyopsia Human_Phenotype_Ontology:HP:0030511,MONDO:MONDO:0012033,MedGen:C1842073,OMIM:PS608415,Orphanet:75374 2 2 1.0000 condition_record_support_limited 20 0 2 Bradyopsia 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RFXAP condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 27 compact_adjacent_exon_block_opportunity local_compact_architecture RFXANK rfxank_related_disorder RFXANK-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 RFXANK-related_disorder 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RFX7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 16 low_record_burden_interpretation_limited low_record_burden_gene RFX5 rfx5_related_disorder RFX5-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 RFX5-related_disorder 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RFX3 rfx3_related_disorder RFX3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 RFX3-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene RFX3 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene RFX3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 12 low_record_burden_interpretation_limited low_record_burden_gene RFWD3 condition_not_provided condition not provided MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene REV3L condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene RET mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 1.0000 condition_record_support_limited 20 0 1 Ovarian_cancer 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET medgen_c4016286 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE MedGen:C4016286 2 2 1.0000 condition_record_support_limited 20 0 2 MULTIPLE_ENDOCRINE_NEOPLASIA,_TYPE_IIA,_WITH_HIRSCHSPRUNG_DISEASE 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET inherited_phaeochromocytoma_and_paraganglioma_excluding_nf1 Inherited phaeochromocytoma and paraganglioma excluding NF1 . 2 2 1.0000 condition_record_support_limited 20 0 2 Inherited_phaeochromocytoma_and_paraganglioma_excluding_NF1 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture REST mondo_mondo_0007609_medgen_c4551558_omim_135300_orphanet_2024 Fibromatosis, gingival, 1 MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300,Orphanet:2024 2 2 1.0000 condition_record_support_limited 20 0 2 Fibromatosis,_gingival,_1 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture REST mondo_mondo_0012902_medgen_c3887929_omim_612431_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 27 MONDO:MONDO:0012902,MedGen:C3887929,OMIM:612431,Orphanet:90635 2 2 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_nonsyndromic_hearing_loss_27 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RELT human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Amelogenesis imperfecta Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 2 2 1.0000 condition_record_support_limited 20 0 0 Amelogenesis_imperfecta 8 low_record_burden_interpretation_limited low_record_burden_gene RELN mondo_mondo_0007295_medgen_c0376532_orphanet_1945 Self-limited epilepsy with centrotemporal spikes MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 2 2 1.0000 condition_record_support_limited 20 0 1 Self-limited_epilepsy_with_centrotemporal_spikes 117 large_gene_or_donor_burden_stress_case donor_burden_stress RELN reln_related_disorder RELN-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 RELN-related_disorder 117 large_gene_or_donor_burden_stress_case donor_burden_stress RELN mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 117 large_gene_or_donor_burden_stress_case donor_burden_stress RELA rela_related_disorder RELA-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 RELA-related_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture REL mondo_mondo_0030498_medgen_c5562039_omim_619652_orphanet_697394 Immunodeficiency 92 MONDO:MONDO:0030498,MedGen:C5562039,OMIM:619652,Orphanet:697394 2 2 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_92 7 low_record_burden_interpretation_limited low_record_burden_gene REEP2 mondo_mondo_0957958_medgen_c5882720_omim_620606 Spastic paraplegia 72b, autosomal recessive MONDO:MONDO:0957958,MedGen:C5882720,OMIM:620606 2 2 1.0000 condition_record_support_limited 20 0 0 Spastic_paraplegia_72b,_autosomal_recessive 7 low_record_burden_interpretation_limited low_record_burden_gene REEP1 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 2 2 1.0000 condition_record_support_limited 20 0 2 Spastic_paraplegia 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture REEP1 reep1_related_disorder REEP1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 REEP1-related_disorder 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RECQL4 recql4_related_spectrum_disorders RECQL4-related spectrum disorders . 2 2 1.0000 condition_record_support_limited 20 0 2 RECQL4-related_spectrum_disorders 385 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RECQL4 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 385 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RECQL4 mondo_mondo_0005453_medgen_c0152021 Congenital heart disease MONDO:MONDO:0005453,MedGen:C0152021 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_heart_disease 385 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RECQL condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene REC8 human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Premature ovarian insufficiency Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 2 2 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_insufficiency 3 low_record_burden_interpretation_limited low_record_burden_gene REC114 mondo_mondo_0030925_medgen_c5436938_omim_619176 Oocyte maturation defect 10 MONDO:MONDO:0030925,MedGen:C5436938,OMIM:619176 2 2 1.0000 condition_record_support_limited 20 0 0 Oocyte_maturation_defect_10 2 low_record_burden_interpretation_limited low_record_burden_gene RDH5 mondo_mondo_0018877_medgen_c1405854_orphanet_52427 Retinitis punctata albescens MONDO:MONDO:0018877,MedGen:C1405854,Orphanet:52427 2 2 1.0000 condition_record_support_limited 20 0 2 Retinitis_punctata_albescens 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RDH5 human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Congenital stationary night blindness Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_stationary_night_blindness 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RDH12 mondo_mondo_0800348_medgen_c3150208 Retinitis pigmentosa 53 MONDO:MONDO:0800348,MedGen:C3150208 2 2 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa_53 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RDH12 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_eye 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RD3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene RD3 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 14 low_record_burden_interpretation_limited low_record_burden_gene RCC1 mondo_mondo_0979881_medgen_cn379897_omim_621333 Infection-induced acute-onset axonal neuropathy MONDO:MONDO:0979881,MedGen:CN379897,OMIM:621333 2 2 1.0000 condition_record_support_limited 20 0 1 Infection-induced_acute-onset_axonal_neuropathy 5 low_record_burden_interpretation_limited low_record_burden_gene RCBTB1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RCBTB1 mondo_mondo_0010269_medgen_c5964756_omim_300216_orphanet_190 Coats disease MONDO:MONDO:0010269,MedGen:C5964756,OMIM:300216,Orphanet:190 2 2 1.0000 condition_record_support_limited 20 0 2 Coats_disease 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBSN mondo_mondo_0975795_medgen_c5975371_omim_620937 Kariminejad neurodevelopmental syndrome MONDO:MONDO:0975795,MedGen:C5975371,OMIM:620937 2 2 1.0000 condition_record_support_limited 20 0 0 Kariminejad_neurodevelopmental_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene RBP4 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 19 low_record_burden_interpretation_limited low_record_burden_gene RBP4 human_phenotype_ontology_hp_0001143_human_phenotype_ontology_hp_0001585_human_phenotype_ontology_hp_0007633_medgen_c1843496 Bilateral microphthalmos Human_Phenotype_Ontology:HP:0001143,Human_Phenotype_Ontology:HP:0001585,Human_Phenotype_Ontology:HP:0007633,MedGen:C1843496 2 2 1.0000 condition_record_support_limited 20 0 1 Bilateral_microphthalmos 19 low_record_burden_interpretation_limited low_record_burden_gene RBP3 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 41 compact_adjacent_exon_block_opportunity local_compact_architecture RBMX mondo_mondo_0010661_medgen_c0795965_omim_309555_orphanet_3078 Severe X-linked intellectual disability, Gustavson type MONDO:MONDO:0010661,MedGen:C0795965,OMIM:309555,Orphanet:3078 2 2 1.0000 condition_record_support_limited 20 0 0 Severe_X-linked_intellectual_disability,_Gustavson_type 10 low_record_burden_interpretation_limited low_record_burden_gene RBM8A condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene RBM20 rbm20_related_disorder RBM20-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 RBM20-related_disorder 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBM20 mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 Primary familial dilated cardiomyopathy MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 2 2 1.0000 condition_record_support_limited 20 0 2 Primary_familial_dilated_cardiomyopathy 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBM20 efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 2 2 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBM20 mondo_mondo_0013262_medgen_c1834481_omim_613426_orphanet_154_orphanet_54260 Dilated cardiomyopathy 1S MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426,Orphanet:154,Orphanet:54260 2 2 1.0000 condition_record_support_limited 20 0 1 Dilated_cardiomyopathy_1S 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBM12 mondo_mondo_0033312_medgen_c4539944_omim_617629 Schizophrenia 19 MONDO:MONDO:0033312,MedGen:C4539944,OMIM:617629 2 2 1.0000 condition_record_support_limited 20 0 0 Schizophrenia_19 2 low_record_burden_interpretation_limited low_record_burden_gene RBM10 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBFOX2 mondo_mondo_0100557_medgen_cn377745 RBFOX2-related congenital heart disorder MONDO:MONDO:0100557,MedGen:CN377745 2 2 1.0000 condition_record_support_limited 20 0 0 RBFOX2-related_congenital_heart_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene RBFOX2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 4 low_record_burden_interpretation_limited low_record_burden_gene RBBP8 rbbp8_related_disorder RBBP8-related disorder MedGen:CN239300 2 2 1.0000 condition_record_support_limited 20 0 0 RBBP8-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene RBBP8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene RB1 mondo_mondo_0013699_medgen_c1838333_omim_614337_orphanet_144 Lynch syndrome 4 MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144 2 2 1.0000 condition_record_support_limited 20 0 1 Lynch_syndrome_4 947 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAX2 mondo_mondo_0859308_medgen_c5774244_omim_620102 Retinitis pigmentosa 95 MONDO:MONDO:0859308,MedGen:C5774244,OMIM:620102 2 2 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa_95 10 low_record_burden_interpretation_limited low_record_burden_gene RAX2 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy 10 low_record_burden_interpretation_limited low_record_burden_gene RASGRP2 rasgrp2_related_disorder RASGRP2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 RASGRP2-related_disorder 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RASA3 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 1.0000 condition_record_support_limited 20 0 0 Short_stature 2 low_record_burden_interpretation_limited low_record_burden_gene RASA1 medgen_c3838465 Basal cell carcinoma, somatic MedGen:C3838465 2 2 1.0000 condition_record_support_limited 20 0 0 Basal_cell_carcinoma,_somatic 285 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RASA1 human_phenotype_ontology_hp_0100026_mesh_d001165_medgen_c0003857 Arteriovenous malformation Human_Phenotype_Ontology:HP:0100026,MeSH:D001165,MedGen:C0003857 2 2 1.0000 condition_record_support_limited 20 0 0 Arteriovenous_malformation 285 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RARS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RARB mondo_mondo_0030913_medgen_c4540321_omim_617751_orphanet_500159 Intellectual disability, autosomal dominant 48 MONDO:MONDO:0030913,MedGen:C4540321,OMIM:617751,Orphanet:500159 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability,_autosomal_dominant_48 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RARB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAPSN human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 2 2 1.0000 condition_record_support_limited 20 0 2 Myopathy 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAPSN human_phenotype_ontology_hp_0001789_mondo_mondo_0015193_medgen_c0020305_orphanet_1041 Hydrops fetalis Human_Phenotype_Ontology:HP:0001789,MONDO:MONDO:0015193,MedGen:C0020305,Orphanet:1041 2 2 1.0000 condition_record_support_limited 20 0 1 Hydrops_fetalis 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAP1GDS1 mondo_mondo_0958001_medgen_c5882735_omim_620655 Alfadhel syndrome MONDO:MONDO:0958001,MedGen:C5882735,OMIM:620655 2 2 1.0000 condition_record_support_limited 20 0 0 Alfadhel_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene RANBP2 mondo_mondo_0008758_medgen_c0205710_omim_203700_orphanet_726 Progressive sclerosing poliodystrophy MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726 2 2 1.0000 condition_record_support_limited 20 0 2 Progressive_sclerosing_poliodystrophy 96 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RANBP2 non_syndromic_oligodontia Non-syndromic oligodontia . 2 2 1.0000 condition_record_support_limited 20 0 1 Non-syndromic_oligodontia 96 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RANBP2 mondo_mondo_0013350_medgen_c3150914_omim_613662_orphanet_298 Mitochondrial DNA depletion syndrome 4b MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298 2 2 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_DNA_depletion_syndrome_4b 96 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RANBP2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 96 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RALGAPA1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene RAG2 mondo_mondo_0015517_medgen_c0009447_omim_ps607594_orphanet_1572 Common variable immunodeficiency MONDO:MONDO:0015517,MedGen:C0009447,OMIM:PS607594,Orphanet:1572 2 2 1.0000 condition_record_support_limited 20 0 1 Common_variable_immunodeficiency 147 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAF1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD54L mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 2 2 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 9 low_record_burden_interpretation_limited low_record_burden_gene RAD54L mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 9 low_record_burden_interpretation_limited low_record_burden_gene RAD51D human_phenotype_ontology_hp_0025318_mondo_mondo_0005140_medgen_c4721610 Ovarian carcinoma Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610 2 2 1.0000 condition_record_support_limited 20 0 2 Ovarian_carcinoma 245 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51D medgen_c4329712 Deleterious RAD51D Gene Mutation MedGen:C4329712 2 2 1.0000 condition_record_support_limited 20 0 0 Deleterious_RAD51D_Gene_Mutation 245 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51D mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 1 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 2 2 1.0000 condition_record_support_limited 20 0 2 Breast-ovarian_cancer,_familial,_susceptibility_to,_1 245 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51C mondo_mondo_0016249_medgen_cn278678 Hereditary site-specific ovarian cancer syndrome MONDO:MONDO:0016249,MedGen:CN278678 2 2 1.0000 condition_record_support_limited 20 0 2 Hereditary_site-specific_ovarian_cancer_syndrome 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51C mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 1 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 2 2 1.0000 condition_record_support_limited 20 0 1 Breast-ovarian_cancer,_familial,_susceptibility_to,_1 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51 rad51_related_disorder RAD51-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 RAD51-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene RAD50 mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_cancer_of_breast 483 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD21 rad21_related_disorder RAD21-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 RAD21-related_disorder 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RACGAP1 mondo_mondo_0030711_medgen_c5676940_omim_619789 Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive MONDO:MONDO:0030711,MedGen:C5676940,OMIM:619789 2 2 1.0000 condition_record_support_limited 20 0 2 Anemia,_congenital_dyserythropoietic,_type_IIIb,_autosomal_recessive 3 low_record_burden_interpretation_limited low_record_burden_gene RAC3 rac3_related_disorder RAC3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 RAC3-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene RAC3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 11 low_record_burden_interpretation_limited low_record_burden_gene RAC3 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_brain_morphology 11 low_record_burden_interpretation_limited low_record_burden_gene RAC2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene RAC2 mondo_mondo_0033555_medgen_c5436550_omim_618987 Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia MONDO:MONDO:0033555,MedGen:C5436550,OMIM:618987 2 2 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency_73c_with_defective_neutrophil_chemotaxis_and_hypogammaglobulinemia 7 low_record_burden_interpretation_limited low_record_burden_gene RAB9B medgen_c4016483 Pelizaeus-Merzbacher disease, connatal MedGen:C4016483 2 2 1.0000 condition_record_support_limited 20 0 0 Pelizaeus-Merzbacher_disease,_connatal 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB9B medgen_c0751915 Pelizaeus-Merzbacher disease, atypical MedGen:C0751915 2 2 1.0000 condition_record_support_limited 20 0 2 Pelizaeus-Merzbacher_disease,_atypical 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB9B plp1_related_disorder PLP1-related disorder MedGen:CN378767 2 2 1.0000 condition_record_support_limited 20 0 2 PLP1-related_disorder 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB7A condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene RAB34 mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 Jeune thoracic dystrophy MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 2 2 1.0000 condition_record_support_limited 20 0 2 Jeune_thoracic_dystrophy 4 low_record_burden_interpretation_limited low_record_burden_gene RAB33A medgen_c2732267 Auditory neuropathy spectrum disorder MedGen:C2732267 2 2 1.0000 condition_record_support_limited 20 0 0 Auditory_neuropathy_spectrum_disorder 47 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RAB18 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene QRICH2 qrich2_related_disorder QRICH2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 QRICH2-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene PYGM medgen_c4017156 McArdle disease, mild MedGen:C4017156 2 2 1.0000 condition_record_support_limited 20 0 2 McArdle_disease,_mild 294 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYGM mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 294 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYGM human_phenotype_ontology_hp_0008942_medgen_c3807306 Acute rhabdomyolysis Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 2 2 1.0000 condition_record_support_limited 20 0 2 Acute_rhabdomyolysis 294 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYGL pygl_related_disorder PYGL-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 PYGL-related_disorder 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYCR2 human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Leukodystrophy Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 2 2 1.0000 condition_record_support_limited 20 0 1 Leukodystrophy 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PXDN condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PXDN human_phenotype_ontology_hp_0007696_human_phenotype_ontology_hp_0007699_human_phenotype_ontology_hp_0007700_human_phenotype_ontology_hp_0008040_mondo_mondo_0019503_medgen_c1862839_omim_ps107250_orphanet_88632 Anterior segment dysgenesis Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632 2 2 1.0000 condition_record_support_limited 20 0 1 Anterior_segment_dysgenesis 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUS3 human_phenotype_ontology_hp_0001561_human_phenotype_ontology_hp_0005098_mondo_mondo_0004585_medgen_c0020224 Polyhydramnios Human_Phenotype_Ontology:HP:0001561,Human_Phenotype_Ontology:HP:0005098,MONDO:MONDO:0004585,MedGen:C0020224 2 2 1.0000 condition_record_support_limited 20 0 2 Polyhydramnios 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUS3 human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 2 2 1.0000 condition_record_support_limited 20 0 2 Heart,_malformation_of 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUS3 human_phenotype_ontology_hp_0006857_human_phenotype_ontology_hp_0007360_human_phenotype_ontology_hp_0007368_medgen_c3279222 Aplasia/Hypoplasia of the cerebellum Human_Phenotype_Ontology:HP:0006857,Human_Phenotype_Ontology:HP:0007360,Human_Phenotype_Ontology:HP:0007368,MedGen:C3279222 2 2 1.0000 condition_record_support_limited 20 0 2 Aplasia/Hypoplasia_of_the_cerebellum 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUS3 human_phenotype_ontology_hp_0004985_human_phenotype_ontology_hp_0006403_human_phenotype_ontology_hp_0006466_medgen_c1837407 Ankle flexion contracture Human_Phenotype_Ontology:HP:0004985,Human_Phenotype_Ontology:HP:0006403,Human_Phenotype_Ontology:HP:0006466,MedGen:C1837407 2 2 1.0000 condition_record_support_limited 20 0 2 Ankle_flexion_contracture 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUS3 human_phenotype_ontology_hp_0002323_mondo_mondo_0000819_medgen_c0002902_omim_ps206500 Anencephaly Human_Phenotype_Ontology:HP:0002323,MONDO:MONDO:0000819,MedGen:C0002902,OMIM:PS206500 2 2 1.0000 condition_record_support_limited 20 0 2 Anencephaly 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUF60 puf60_related_disorder PUF60-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 PUF60-related_disorder 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUF60 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTS mondo_mondo_0100186_medgen_cn305333_omim_233910_orphanet_2102_orphanet_238583 GTP cyclohydrolase I deficiency with hyperphenylalaninemia MONDO:MONDO:0100186,MedGen:CN305333,OMIM:233910,Orphanet:2102,Orphanet:238583 2 2 1.0000 condition_record_support_limited 20 0 1 GTP_cyclohydrolase_I_deficiency_with_hyperphenylalaninemia 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTRH2 mondo_mondo_0024189_medgen_cn228418_omim_ps616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset MONDO:MONDO:0024189,MedGen:CN228418,OMIM:PS616263 2 2 1.0000 condition_record_support_limited 20 0 1 Neurologic,_endocrine,_and_pancreatic_disease,_multisystem,_infantile-onset 9 low_record_burden_interpretation_limited low_record_burden_gene PTPRU human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 1.0000 condition_record_support_limited 20 0 0 Short_stature 2 low_record_burden_interpretation_limited low_record_burden_gene PTPRT human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 2 2 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 2 low_record_burden_interpretation_limited low_record_burden_gene PTPRQ monogenic_hearing_loss Monogenic hearing loss . 2 2 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 60 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PTPRQ human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 2 2 1.0000 condition_record_support_limited 20 0 1 Ear_malformation 60 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PTPRQ medgen_c0011053 Deafness MedGen:C0011053 2 2 1.0000 condition_record_support_limited 20 0 2 Deafness 60 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PTPRJ mondo_mondo_0957578_medgen_c5882682_omim_620484 Thrombocytopenia 10 MONDO:MONDO:0957578,MedGen:C5882682,OMIM:620484 2 2 1.0000 condition_record_support_limited 20 0 0 Thrombocytopenia_10 3 low_record_burden_interpretation_limited low_record_burden_gene PTPRA condition_not_provided condition not provided .|MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 See_cases|not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene PTPN4 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene PTPN23 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN23 human_phenotype_ontology_hp_0012444_medgen_c4551584 Brain atrophy Human_Phenotype_Ontology:HP:0012444,MedGen:C4551584 2 2 1.0000 condition_record_support_limited 20 0 2 Brain_atrophy 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN14 mondo_mondo_0013324_medgen_c3150875_omim_613611_orphanet_99141 Lymphedema-posterior choanal atresia syndrome MONDO:MONDO:0013324,MedGen:C3150875,OMIM:613611,Orphanet:99141 2 2 1.0000 condition_record_support_limited 20 0 0 Lymphedema-posterior_choanal_atresia_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene PTPN11 pigmentary_skin_disorders Pigmentary skin disorders . 2 2 1.0000 condition_record_support_limited 20 0 2 Pigmentary_skin_disorders 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 2 Microcephaly 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 2 2 1.0000 condition_record_support_limited 20 0 2 Hypertrophic_cardiomyopathy 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 2 2 1.0000 condition_record_support_limited 20 0 2 Hereditary_cancer-predisposing_syndrome 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_facial_shape 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Abnormal cardiovascular system morphology Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_cardiovascular_system_morphology 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPA mondo_mondo_0957576_medgen_c5882680_omim_620482 Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development MONDO:MONDO:0957576,MedGen:C5882680,OMIM:620482 2 2 1.0000 condition_record_support_limited 20 0 0 Parkinson_disease_25,_autosomal_recessive_early-onset,_with_impaired_intellectual_development 2 low_record_burden_interpretation_limited low_record_burden_gene PTF1A condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene PTEN mondo_mondo_0017571_medgen_c1866398_orphanet_2969 Proteus-like syndrome MONDO:MONDO:0017571,MedGen:C1866398,Orphanet:2969 2 2 1.0000 condition_record_support_limited 20 0 2 Proteus-like_syndrome 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN medgen_c4015779 Prostate cancer, somatic MedGen:C4015779 2 2 1.0000 condition_record_support_limited 20 0 2 Prostate_cancer,_somatic 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_delay 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 2 2 1.0000 condition_record_support_limited 20 0 2 Malignant_tumor_of_breast 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN human_phenotype_ontology_hp_0500009_mondo_mondo_0019002_medgen_c0391826_orphanet_65285 Lhermitte-Duclos disease Human_Phenotype_Ontology:HP:0500009,MONDO:MONDO:0019002,MedGen:C0391826,Orphanet:65285 2 2 1.0000 condition_record_support_limited 20 0 2 Lhermitte-Duclos_disease 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN human_phenotype_ontology_hp_0007206_mondo_mondo_0020492_medgen_c0431391_orphanet_99802 Hemimegalencephaly Human_Phenotype_Ontology:HP:0007206,MONDO:MONDO:0020492,MedGen:C0431391,Orphanet:99802 2 2 1.0000 condition_record_support_limited 20 0 0 Hemimegalencephaly 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_cancer_of_breast 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 2 2 1.0000 condition_record_support_limited 20 0 2 Breast_carcinoma 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN breast_and_or_ovarian_cancer Breast and/or ovarian cancer MedGen:CN221562 2 2 1.0000 condition_record_support_limited 20 0 1 Breast_and/or_ovarian_cancer 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Abnormal cardiovascular system morphology Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_cardiovascular_system_morphology 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTCH1 mondo_mondo_0016349_medgen_c0020256_omim_ps236600_orphanet_2185 Congenital hydrocephalus MONDO:MONDO:0016349,MedGen:C0020256,OMIM:PS236600,Orphanet:2185 2 2 1.0000 condition_record_support_limited 20 0 1 Congenital_hydrocephalus 736 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTCD3 ptcd3_related_disorder PTCD3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 PTCD3-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene PTBP2 ptbp2_related_neurodevelopmental_disease PTBP2-related neurodevelopmental disease . 2 2 1.0000 condition_record_support_limited 20 0 1 PTBP2-related_neurodevelopmental_disease 2 low_record_burden_interpretation_limited low_record_burden_gene PSTPIP1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene PSTPIP1 mondo_mondo_0011174_medgen_c4760957_omim_601979_orphanet_251523 Hyperzincemia and hypercalprotectinemia MONDO:MONDO:0011174,MedGen:C4760957,OMIM:601979,Orphanet:251523 2 2 1.0000 condition_record_support_limited 20 0 1 Hyperzincemia_and_hypercalprotectinemia 4 low_record_burden_interpretation_limited low_record_burden_gene PSORS1C1 mondo_mondo_0007805_medgen_c1840299_omim_146520_orphanet_90368 Hypotrichosis 2 MONDO:MONDO:0007805,MedGen:C1840299,OMIM:146520,Orphanet:90368 2 2 1.0000 condition_record_support_limited 20 0 0 Hypotrichosis_2 9 low_record_burden_interpretation_limited low_record_burden_gene PSMG2 condition_not_provided condition not provided . 2 2 1.0000 condition_record_support_limited 20 2 0 See_cases 14 low_record_burden_interpretation_limited low_record_burden_gene PSMG2 mondo_mondo_0008854_medgen_c2936862_omim_209900 Bardet-Biedl syndrome 1 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 2 2 1.0000 condition_record_support_limited 20 0 0 Bardet-Biedl_syndrome_1 14 low_record_burden_interpretation_limited low_record_burden_gene PSMC3 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene PSMA3 medgen_c4749059 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC MedGen:C4749059 2 2 1.0000 condition_record_support_limited 20 0 0 PROTEASOME-ASSOCIATED_AUTOINFLAMMATORY_SYNDROME_1,_DIGENIC 2 low_record_burden_interpretation_limited low_record_burden_gene PSEN1 human_phenotype_ontology_hp_0001268_human_phenotype_ontology_hp_0002303_human_phenotype_ontology_hp_0006822_human_phenotype_ontology_hp_0007155_human_phenotype_ontology_hp_0007253_human_phenotype_ontology_hp_0007264_human_phenotype_ontology_hp_0007298_medgen_c0234985 Mental deterioration Human_Phenotype_Ontology:HP:0001268,Human_Phenotype_Ontology:HP:0002303,Human_Phenotype_Ontology:HP:0006822,Human_Phenotype_Ontology:HP:0007155,Human_Phenotype_Ontology:HP:0007253,Human_Phenotype_Ontology:HP:0007264,Human_Phenotype_Ontology:HP:0007298,MedGen:C0234985 2 2 1.0000 condition_record_support_limited 20 0 2 Mental_deterioration 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSEN1 mondo_mondo_0015140_medgen_cn043596_orphanet_1020 Early-onset autosomal dominant Alzheimer disease MONDO:MONDO:0015140,MedGen:CN043596,Orphanet:1020 2 2 1.0000 condition_record_support_limited 20 0 2 Early-onset_autosomal_dominant_Alzheimer_disease 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSEN1 medgen_c4015781 Alzheimer disease, familial, 3, with unusual plaques MedGen:C4015781 2 2 1.0000 condition_record_support_limited 20 0 2 Alzheimer_disease,_familial,_3,_with_unusual_plaques 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSEN1 medgen_c1843014 Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques MedGen:C1843014 2 2 1.0000 condition_record_support_limited 20 0 2 Alzheimer_disease,_familial,_3,_with_spastic_paraparesis_and_unusual_plaques 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSEN1 medgen_c1843015 Alzheimer disease, familial, 3, with spastic paraparesis and apraxia MedGen:C1843015 2 2 1.0000 condition_record_support_limited 20 0 2 Alzheimer_disease,_familial,_3,_with_spastic_paraparesis_and_apraxia 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSEN1 mondo_mondo_0011743_medgen_c1847200_omim_606889_orphanet_1020 Alzheimer disease 4 MONDO:MONDO:0011743,MedGen:C1847200,OMIM:606889,Orphanet:1020 2 2 1.0000 condition_record_support_limited 20 0 1 Alzheimer_disease_4 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSAP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRX mondo_mondo_0033481_medgen_c4540404_omim_617770_orphanet_589522 Spinocerebellar ataxia 46 MONDO:MONDO:0033481,MedGen:C4540404,OMIM:617770,Orphanet:589522 2 2 1.0000 condition_record_support_limited 20 0 1 Spinocerebellar_ataxia_46 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRX mondo_mondo_0019011_medgen_c0751036_orphanet_65753 Charcot-Marie-Tooth disease, type I MONDO:MONDO:0019011,MedGen:C0751036,Orphanet:65753 2 2 1.0000 condition_record_support_limited 20 0 2 Charcot-Marie-Tooth_disease,_type_I 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRUNE1 prune1_related_disorder PRUNE1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 PRUNE1-related_disorder 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRUNE1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRSS56 mondo_mondo_0005514_medgen_c4274282_omim_ps600165_orphanet_35612 Nanophthalmia MONDO:MONDO:0005514,MedGen:C4274282,OMIM:PS600165,Orphanet:35612 2 2 1.0000 condition_record_support_limited 20 0 1 Nanophthalmia 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRSS23 mondo_mondo_0010269_medgen_c5964756_omim_300216_orphanet_190 Coats disease MONDO:MONDO:0010269,MedGen:C5964756,OMIM:300216,Orphanet:190 2 2 1.0000 condition_record_support_limited 20 0 2 Coats_disease 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRSS12 mondo_mondo_0009580_medgen_c1855304_omim_249500_orphanet_88616 Intellectual disability, autosomal recessive 1 MONDO:MONDO:0009580,MedGen:C1855304,OMIM:249500,Orphanet:88616 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_autosomal_recessive_1 2 low_record_burden_interpretation_limited low_record_burden_gene PRSS1 prss1_related_disorder PRSS1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 PRSS1-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene PRPS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPS1 medgen_c3887873 Hearing loss MedGen:C3887873 2 2 1.0000 condition_record_support_limited 20 0 2 Hearing_loss 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPH2 mondo_mondo_0019353_medgen_c0271093_orphanet_827 Stargardt disease MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827 2 2 1.0000 condition_record_support_limited 20 0 2 Stargardt_disease 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRPH2 mondo_mondo_0020382_medgen_c4509881_orphanet_99003 Multifocal pattern dystrophy simulating fundus flavimaculatus MONDO:MONDO:0020382,MedGen:C4509881,Orphanet:99003 2 2 1.0000 condition_record_support_limited 20 0 2 Multifocal_pattern_dystrophy_simulating_fundus_flavimaculatus 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRPH2 mondo_mondo_1060145_medgen_c4013102 Leber congenital amaurosis 18 MONDO:MONDO:1060145,MedGen:C4013102 2 2 1.0000 condition_record_support_limited 20 0 2 Leber_congenital_amaurosis_18 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRPH2 mondo_mondo_0000455_medgen_c0730290_orphanet_1871 Cone dystrophy MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 2 2 1.0000 condition_record_support_limited 20 0 1 Cone_dystrophy 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRPH2 human_phenotype_ontology_hp_0001139_mondo_mondo_0010557_medgen_c0008525_omim_303100_orphanet_180 Choroideremia Human_Phenotype_Ontology:HP:0001139,MONDO:MONDO:0010557,MedGen:C0008525,OMIM:303100,Orphanet:180 2 2 1.0000 condition_record_support_limited 20 0 2 Choroideremia 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRPF8 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_disorder 77 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PRPF8 prpf8_related_disorder PRPF8-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 PRPF8-related_disorder 77 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PRPF3 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa 12 low_record_burden_interpretation_limited low_record_burden_gene PRORP human_phenotype_ontology_hp_0004898_medgen_c3554538 Persistent lactic acidosis Human_Phenotype_Ontology:HP:0004898,MedGen:C3554538 2 2 1.0000 condition_record_support_limited 20 0 2 Persistent_lactic_acidosis 6 low_record_burden_interpretation_limited low_record_burden_gene PRORP human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 2 Microcephaly 6 low_record_burden_interpretation_limited low_record_burden_gene PRORP human_phenotype_ontology_hp_0002352_human_phenotype_ontology_hp_0006838_human_phenotype_ontology_hp_0007073_medgen_c0270612 Leukoencephalopathy Human_Phenotype_Ontology:HP:0002352,Human_Phenotype_Ontology:HP:0006838,Human_Phenotype_Ontology:HP:0007073,MedGen:C0270612 2 2 1.0000 condition_record_support_limited 20 0 2 Leukoencephalopathy 6 low_record_burden_interpretation_limited low_record_burden_gene PRORP human_phenotype_ontology_hp_0003128_human_phenotype_ontology_hp_0003255_human_phenotype_ontology_hp_0005960_mondo_mondo_0006040_medgen_c0001125 Lactic acidosis Human_Phenotype_Ontology:HP:0003128,Human_Phenotype_Ontology:HP:0003255,Human_Phenotype_Ontology:HP:0005960,MONDO:MONDO:0006040,MedGen:C0001125 2 2 1.0000 condition_record_support_limited 20 0 2 Lactic_acidosis 6 low_record_burden_interpretation_limited low_record_burden_gene PRORP human_phenotype_ontology_hp_0001276_human_phenotype_ontology_hp_0002388_medgen_c0026826 Hypertonia Human_Phenotype_Ontology:HP:0001276,Human_Phenotype_Ontology:HP:0002388,MedGen:C0026826 2 2 1.0000 condition_record_support_limited 20 0 2 Hypertonia 6 low_record_burden_interpretation_limited low_record_burden_gene PRORP human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 6 low_record_burden_interpretation_limited low_record_burden_gene PRORP human_phenotype_ontology_hp_0011968_medgen_c0232466 Feeding difficulties Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466 2 2 1.0000 condition_record_support_limited 20 0 2 Feeding_difficulties 6 low_record_burden_interpretation_limited low_record_burden_gene PRORP human_phenotype_ontology_hp_0007204_medgen_c4024923 Diffuse white matter abnormalities Human_Phenotype_Ontology:HP:0007204,MedGen:C4024923 2 2 1.0000 condition_record_support_limited 20 0 2 Diffuse_white_matter_abnormalities 6 low_record_burden_interpretation_limited low_record_burden_gene PRORP human_phenotype_ontology_hp_0011474_medgen_c4023340 Childhood onset sensorineural hearing impairment Human_Phenotype_Ontology:HP:0011474,MedGen:C4023340 2 2 1.0000 condition_record_support_limited 20 0 2 Childhood_onset_sensorineural_hearing_impairment 6 low_record_burden_interpretation_limited low_record_burden_gene PROP1 prop1_related_disorder PROP1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 PROP1-related_disorder 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROM1 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_disorder 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROM1 mondo_mondo_0008764_medgen_c2931258_omim_204000_orphanet_65 Leber congenital amaurosis 1 MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65 2 2 1.0000 condition_record_support_limited 20 0 2 Leber_congenital_amaurosis_1 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROM1 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 2 2 1.0000 condition_record_support_limited 20 0 2 Leber_congenital_amaurosis 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROM1 mondo_mondo_0007362_medgen_c3489532_omim_120970_orphanet_1872 Cone-rod dystrophy 2 MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970,Orphanet:1872 2 2 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy_2 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROK2 prok2_related_disorder PROK2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 PROK2-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene PROK2 medgen_c5681167_orphanet_399775 Male infertility with spermatogenesis disorder MedGen:C5681167,Orphanet:399775 2 2 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_spermatogenesis_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene PROC mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRNP prnp_related_disorder PRNP-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 PRNP-related_disorder 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRNP mondo_mondo_0009500_medgen_c1855588_omim_245300_orphanet_454745 Kuru, susceptibility to MONDO:MONDO:0009500,MedGen:C1855588,OMIM:245300,Orphanet:454745 2 2 1.0000 condition_record_support_limited 20 0 2 Kuru,_susceptibility_to 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRMT7 human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Skeletal dysplasia Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 2 2 1.0000 condition_record_support_limited 20 0 2 Skeletal_dysplasia 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRMT7 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 1.0000 condition_record_support_limited 20 0 2 Short_stature 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRMT7 human_phenotype_ontology_hp_0001164_human_phenotype_ontology_hp_0005695_human_phenotype_ontology_hp_0005717_human_phenotype_ontology_hp_0005909_human_phenotype_ontology_hp_0006047_human_phenotype_ontology_hp_0006183_human_phenotype_ontology_hp_0006186_human_phenotype_ontology_hp_0010049_medgen_c1837084 Short metacarpal Human_Phenotype_Ontology:HP:0001164,Human_Phenotype_Ontology:HP:0005695,Human_Phenotype_Ontology:HP:0005717,Human_Phenotype_Ontology:HP:0005909,Human_Phenotype_Ontology:HP:0006047,Human_Phenotype_Ontology:HP:0006183,Human_Phenotype_Ontology:HP:0006186,Human_Phenotype_Ontology:HP:0010049,MedGen:C1837084 2 2 1.0000 condition_record_support_limited 20 0 2 Short_metacarpal 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRMT7 human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 2 2 1.0000 condition_record_support_limited 20 0 2 Severe_intellectual_disability 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRMT7 human_phenotype_ontology_hp_0100716_medgen_c0085271 Self-injurious behavior Human_Phenotype_Ontology:HP:0100716,MedGen:C0085271 2 2 1.0000 condition_record_support_limited 20 0 2 Self-injurious_behavior 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRMT7 human_phenotype_ontology_hp_0000089_human_phenotype_ontology_hp_0001968_human_phenotype_ontology_hp_0004741_human_phenotype_ontology_hp_0008641_mondo_mondo_0019637_medgen_c0266295_orphanet_93101 Renal hypoplasia Human_Phenotype_Ontology:HP:0000089,Human_Phenotype_Ontology:HP:0001968,Human_Phenotype_Ontology:HP:0004741,Human_Phenotype_Ontology:HP:0008641,MONDO:MONDO:0019637,MedGen:C0266295,Orphanet:93101 2 2 1.0000 condition_record_support_limited 20 0 2 Renal_hypoplasia 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRMT7 human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 2 2 1.0000 condition_record_support_limited 20 0 2 Obesity 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRMT7 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRMT7 human_phenotype_ontology_hp_0002938_human_phenotype_ontology_hp_0002941_human_phenotype_ontology_hp_0004560_human_phenotype_ontology_hp_0004574_human_phenotype_ontology_hp_0004596_medgen_c1184923 Lumbar hyperlordosis Human_Phenotype_Ontology:HP:0002938,Human_Phenotype_Ontology:HP:0002941,Human_Phenotype_Ontology:HP:0004560,Human_Phenotype_Ontology:HP:0004574,Human_Phenotype_Ontology:HP:0004596,MedGen:C1184923 2 2 1.0000 condition_record_support_limited 20 0 2 Lumbar_hyperlordosis 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRMT7 human_phenotype_ontology_hp_0000855_medgen_c0021655 Insulin resistance Human_Phenotype_Ontology:HP:0000855,MedGen:C0021655 2 2 1.0000 condition_record_support_limited 20 0 2 Insulin_resistance 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRMT7 human_phenotype_ontology_hp_0003077_human_phenotype_ontology_hp_0008159_human_phenotype_ontology_hp_0008356_mondo_mondo_0021187_medgen_c0020473 Hyperlipidemia Human_Phenotype_Ontology:HP:0003077,Human_Phenotype_Ontology:HP:0008159,Human_Phenotype_Ontology:HP:0008356,MONDO:MONDO:0021187,MedGen:C0020473 2 2 1.0000 condition_record_support_limited 20 0 2 Hyperlipidemia 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRMT7 human_phenotype_ontology_hp_0001397_human_phenotype_ontology_hp_0002252_human_phenotype_ontology_hp_0200121_mondo_mondo_0004790_medgen_c2711227 Hepatic steatosis Human_Phenotype_Ontology:HP:0001397,Human_Phenotype_Ontology:HP:0002252,Human_Phenotype_Ontology:HP:0200121,MONDO:MONDO:0004790,MedGen:C2711227 2 2 1.0000 condition_record_support_limited 20 0 2 Hepatic_steatosis 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRMT7 human_phenotype_ontology_hp_0001156_human_phenotype_ontology_hp_0001189_human_phenotype_ontology_hp_0001201_human_phenotype_ontology_hp_0005630_human_phenotype_ontology_hp_0005657_human_phenotype_ontology_hp_0005727_human_phenotype_ontology_hp_0006017_human_phenotype_ontology_hp_0006128_human_phenotype_ontology_hp_0100667_mondo_mondo_0021004_medgen_c0221357 Brachydactyly Human_Phenotype_Ontology:HP:0001156,Human_Phenotype_Ontology:HP:0001189,Human_Phenotype_Ontology:HP:0001201,Human_Phenotype_Ontology:HP:0005630,Human_Phenotype_Ontology:HP:0005657,Human_Phenotype_Ontology:HP:0005727,Human_Phenotype_Ontology:HP:0006017,Human_Phenotype_Ontology:HP:0006128,Human_Phenotype_Ontology:HP:0100667,MONDO:MONDO:0021004,MedGen:C0221357 2 2 1.0000 condition_record_support_limited 20 0 2 Brachydactyly 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRMT7 human_phenotype_ontology_hp_0000956_human_phenotype_ontology_hp_0007498_human_phenotype_ontology_hp_0007518_human_phenotype_ontology_hp_0007591_mondo_mondo_0007035_mesh_d000052_medgen_c0000889 Acanthosis nigricans Human_Phenotype_Ontology:HP:0000956,Human_Phenotype_Ontology:HP:0007498,Human_Phenotype_Ontology:HP:0007518,Human_Phenotype_Ontology:HP:0007591,MONDO:MONDO:0007035,MeSH:D000052,MedGen:C0000889 2 2 1.0000 condition_record_support_limited 20 0 2 Acanthosis_nigricans 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRMT7 human_phenotype_ontology_hp_0000164_human_phenotype_ontology_hp_0001567_human_phenotype_ontology_hp_0006296_human_phenotype_ontology_hp_0006348_medgen_c0262444 Abnormality of the dentition Human_Phenotype_Ontology:HP:0000164,Human_Phenotype_Ontology:HP:0001567,Human_Phenotype_Ontology:HP:0006296,Human_Phenotype_Ontology:HP:0006348,MedGen:C0262444 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_dentition 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRMT7 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_facial_shape 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKN human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Ovarian neoplasm Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 2 2 1.0000 condition_record_support_limited 20 0 2 Ovarian_neoplasm 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKG2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene PRKCG mondo_mondo_0100309_medgen_c0004138_orphanet_183518 Hereditary ataxia MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518 2 2 1.0000 condition_record_support_limited 20 0 1 Hereditary_ataxia 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAR1B prkar1b_related_disorder PRKAR1B-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 PRKAR1B-related_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAG2 prkag2_related_disorder PRKAG2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 PRKAG2-related_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAG2 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 2 2 1.0000 condition_record_support_limited 20 0 2 Cardiomyopathy 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKACA condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene PRKACA mondo_mondo_0014359_medgen_c4014425_omim_615830_orphanet_189439 Pigmented nodular adrenocortical disease, primary, 4 MONDO:MONDO:0014359,MedGen:C4014425,OMIM:615830,Orphanet:189439 2 2 1.0000 condition_record_support_limited 20 0 1 Pigmented_nodular_adrenocortical_disease,_primary,_4 3 low_record_burden_interpretation_limited low_record_burden_gene PRIMA1 mondo_mondo_0000030_medgen_c5577629_omim_ps600513 Familial sleep-related hypermotor epilepsy MONDO:MONDO:0000030,MedGen:C5577629,OMIM:PS600513 2 2 1.0000 condition_record_support_limited 20 0 0 Familial_sleep-related_hypermotor_epilepsy 2 low_record_burden_interpretation_limited low_record_burden_gene PRICKLE1 mondo_mondo_0012904_medgen_c2676254_omim_612437_orphanet_308 Epilepsy, progressive myoclonic, 1B MONDO:MONDO:0012904,MedGen:C2676254,OMIM:612437,Orphanet:308 2 2 1.0000 condition_record_support_limited 20 0 1 Epilepsy,_progressive_myoclonic,_1B 2 low_record_burden_interpretation_limited low_record_burden_gene PRG4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PREPL slc3a1_related_disorder SLC3A1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SLC3A1-related_disorder 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PREPL medgen_c3671878 Cystine urolithiasis MedGen:C3671878 2 2 1.0000 condition_record_support_limited 20 0 2 Cystine_urolithiasis 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PREP condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene PRDX3 mondo_mondo_0859248_medgen_c5676982_omim_619871 Corneal dystrophy, punctiform and polychromatic pre-descemet MONDO:MONDO:0859248,MedGen:C5676982,OMIM:619871 2 2 1.0000 condition_record_support_limited 20 0 1 Corneal_dystrophy,_punctiform_and_polychromatic_pre-descemet 10 low_record_burden_interpretation_limited low_record_burden_gene PRDX1 medgen_c4693974 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC MedGen:C4693974 2 2 1.0000 condition_record_support_limited 20 0 1 METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA,_cblC_TYPE,_DIGENIC 2 low_record_burden_interpretation_limited low_record_burden_gene PRDM13 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene PRDM12 condition_not_provided condition not provided MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene PQBP1 pqbp1_related_disorder PQBP1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 PQBP1-related_disorder 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PQBP1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 1 Microcephaly 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PQBP1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPTC7 hypomyelinating_leukodystrophy Hypomyelinating leukodystrophy . 2 2 1.0000 condition_record_support_limited 20 0 0 Hypomyelinating_leukodystrophy 2 low_record_burden_interpretation_limited low_record_burden_gene PPT1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP3CA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP2R5D ppp2r5d_related_disorder PPP2R5D-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 PPP2R5D-related_disorder 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP2CA ppp2ca_related_disorder PPP2CA-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 PPP2CA-related_disorder 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP1R13L condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene PPP1CB mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 Noonan syndrome MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 2 2 1.0000 condition_record_support_limited 20 0 2 Noonan_syndrome 14 low_record_burden_interpretation_limited low_record_burden_gene PPOX human_phenotype_ontology_hp_0007467_human_phenotype_ontology_hp_0007496_human_phenotype_ontology_hp_0008066_human_phenotype_ontology_hp_0200038_medgen_c2132198 Abnormal blistering of the skin Human_Phenotype_Ontology:HP:0007467,Human_Phenotype_Ontology:HP:0007496,Human_Phenotype_Ontology:HP:0008066,Human_Phenotype_Ontology:HP:0200038,MedGen:C2132198 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_blistering_of_the_skin 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPM1K mondo_mondo_0014057_medgen_c3554575_omim_615135_orphanet_511 Maple syrup urine disease, mild variant MONDO:MONDO:0014057,MedGen:C3554575,OMIM:615135,Orphanet:511 2 2 1.0000 condition_record_support_limited 20 0 0 Maple_syrup_urine_disease,_mild_variant 2 low_record_burden_interpretation_limited low_record_burden_gene PPFIA3 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 19 low_record_burden_interpretation_limited low_record_burden_gene PPA2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 2 2 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 18 low_record_burden_interpretation_limited low_record_burden_gene POU6F2 mondo_mondo_0011112_medgen_c1832099_omim_601583_orphanet_654 Wilms tumor 5 MONDO:MONDO:0011112,MedGen:C1832099,OMIM:601583,Orphanet:654 2 2 1.0000 condition_record_support_limited 20 0 0 Wilms_tumor_5 2 low_record_burden_interpretation_limited low_record_burden_gene POU4F3 monogenic_hearing_loss Monogenic hearing loss . 2 2 1.0000 condition_record_support_limited 20 0 0 Monogenic_hearing_loss 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POU3F4 mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 2 2 1.0000 condition_record_support_limited 20 0 1 Nonsyndromic_genetic_hearing_loss 107 single_exon_hotspot_opportunity local_compact_architecture POU1F1 pou1f1_related_disorder POU1F1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 POU1F1-related_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POR differences_in_sex_development Differences in sex development . 2 2 1.0000 condition_record_support_limited 20 0 2 Differences_in_sex_development 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POR mondo_mondo_0020667_medgen_c2936791_omim_207410_orphanet_596008_orphanet_83 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis MONDO:MONDO:0020667,MedGen:C2936791,OMIM:207410,Orphanet:596008,Orphanet:83 2 2 1.0000 condition_record_support_limited 20 0 2 Antley-Bixler_syndrome_without_genital_anomalies_or_disordered_steroidogenesis 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT2 mondo_mondo_0009364_medgen_c4284790_omim_236670_orphanet_588_orphanet_899 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899 2 2 1.0000 condition_record_support_limited 20 0 2 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT1 mondo_mondo_0700070_medgen_cn305641 Myopathy caused by variation in POMT1 MONDO:MONDO:0700070,MedGen:CN305641 2 2 1.0000 condition_record_support_limited 20 0 2 Myopathy_caused_by_variation_in_POMT1 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT1 human_phenotype_ontology_hp_0002195_medgen_c4025719 Dysgenesis of the cerebellar vermis Human_Phenotype_Ontology:HP:0002195,MedGen:C4025719 2 2 1.0000 condition_record_support_limited 20 0 1 Dysgenesis_of_the_cerebellar_vermis 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMP condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene POMP mondo_mondo_0011169_medgen_c1866029_omim_601952_orphanet_281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome MONDO:MONDO:0011169,MedGen:C1866029,OMIM:601952,Orphanet:281201 2 2 1.0000 condition_record_support_limited 20 0 2 Keratosis_linearis-ichthyosis_congenita-sclerosing_keratoderma_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene POMK pomk_related_disorder POMK-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 POMK-related_disorder 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMGNT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMGNT1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 2 2 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMC human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 2 2 1.0000 condition_record_support_limited 20 0 1 Obesity 19 low_record_burden_interpretation_limited low_record_burden_gene POLRMT condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene POLR3K mondo_mondo_0030263_medgen_c5543334_omim_619310 Leukodystrophy, hypomyelinating, 21 MONDO:MONDO:0030263,MedGen:C5543334,OMIM:619310 2 2 1.0000 condition_record_support_limited 20 0 0 Leukodystrophy,_hypomyelinating,_21 2 low_record_burden_interpretation_limited low_record_burden_gene POLR3H human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 2 2 1.0000 condition_record_support_limited 20 0 1 Optic_atrophy 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3GL human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 1.0000 condition_record_support_limited 20 0 2 Short_stature 3 low_record_burden_interpretation_limited low_record_burden_gene POLR3GL polr3gl_related_disorder POLR3GL-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 POLR3GL-related_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene POLR3GL human_phenotype_ontology_hp_0000677_human_phenotype_ontology_hp_0000702_medgen_c4082304 Oligodontia Human_Phenotype_Ontology:HP:0000677,Human_Phenotype_Ontology:HP:0000702,MedGen:C4082304 2 2 1.0000 condition_record_support_limited 20 0 2 Oligodontia 3 low_record_burden_interpretation_limited low_record_burden_gene POLR3GL human_phenotype_ontology_hp_0100774_mondo_mondo_0002185_medgen_c0020492 Hyperostosis Human_Phenotype_Ontology:HP:0100774,MONDO:MONDO:0002185,MedGen:C0020492 2 2 1.0000 condition_record_support_limited 20 0 2 Hyperostosis 3 low_record_burden_interpretation_limited low_record_burden_gene POLR3GL human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_facial_shape 3 low_record_burden_interpretation_limited low_record_burden_gene POLR3B mondo_mondo_0100605_medgen_c5679947_orphanet_289494 POLR-related leukodystrophy MONDO:MONDO:0100605,MedGen:C5679947,Orphanet:289494 2 2 1.0000 condition_record_support_limited 20 0 2 POLR-related_leukodystrophy 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3B mondo_mondo_0011897_medgen_cn034185_omim_607694_orphanet_137639_orphanet_447893_orphanet_447896_orphanet_77295_orphanet_88637 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism MONDO:MONDO:0011897,MedGen:CN034185,OMIM:607694,Orphanet:137639,Orphanet:447893,Orphanet:447896,Orphanet:77295,Orphanet:88637 2 2 1.0000 condition_record_support_limited 20 0 2 Leukodystrophy,_hypomyelinating,_7,_with_or_without_oligodontia_and/or_hypogonadotropic_hypogonadism 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3B mondo_mondo_0007794_medgen_c0342384_omim_146110_orphanet_432 Hypogonadotropic hypogonadism 7 with or without anosmia MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432 2 2 1.0000 condition_record_support_limited 20 0 2 Hypogonadotropic_hypogonadism_7_with_or_without_anosmia 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3A polr3a_related_neurological_disorders POLR3A-related neurological disorders . 2 2 1.0000 condition_record_support_limited 20 0 1 POLR3A-related_neurological_disorders 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3A mondo_mondo_0013722_medgen_c3280644_omim_614381_orphanet_85186_orphanet_88637 Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism MONDO:MONDO:0013722,MedGen:C3280644,OMIM:614381,Orphanet:85186,Orphanet:88637 2 2 1.0000 condition_record_support_limited 20 0 2 Hypomyelinating_leukodystrophy_8_with_or_without_oligodontia_and-or_hypogonadotropic_hypogonadism 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3A mondo_mondo_0100309_medgen_c0004138_orphanet_183518 Hereditary ataxia MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518 2 2 1.0000 condition_record_support_limited 20 0 2 Hereditary_ataxia 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR2F mondo_mondo_0010192_medgen_c1848519_omim_277580_orphanet_897 Waardenburg syndrome type 4A MONDO:MONDO:0010192,MedGen:C1848519,OMIM:277580,Orphanet:897 2 2 1.0000 condition_record_support_limited 20 0 0 Waardenburg_syndrome_type_4A 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR2F mondo_mondo_0018800_medgen_c0162809_orphanet_478 Hypogonadism with anosmia MONDO:MONDO:0018800,MedGen:C0162809,Orphanet:478 2 2 1.0000 condition_record_support_limited 20 0 1 Hypogonadism_with_anosmia 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR2F deafness_with_anatomical_inner_ear_anomalies Deafness with anatomical inner ear anomalies . 2 2 1.0000 condition_record_support_limited 20 0 1 Deafness_with_anatomical_inner_ear_anomalies 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR2C medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 2 2 1.0000 condition_record_support_limited 20 0 0 Genetic_non-acquired_premature_ovarian_failure 2 low_record_burden_interpretation_limited low_record_burden_gene POLR1D polr1d_related_disorder POLR1D-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 POLR1D-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene POLR1B polr1b_related_disorder POLR1B-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 POLR1B-related_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene POLGARF mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_disease 61 compact_adjacent_exon_block_opportunity local_compact_architecture POLGARF mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 61 compact_adjacent_exon_block_opportunity local_compact_architecture POLG2 polg2_related_disorder POLG2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 POLG2-related_disorder 33 compact_adjacent_exon_block_opportunity local_compact_architecture POLG human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG mondo_mondo_0012186_medgen_c1836861_omim_609053_orphanet_84 Fanconi anemia complementation group I MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053,Orphanet:84 2 2 1.0000 condition_record_support_limited 20 0 1 Fanconi_anemia_complementation_group_I 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLA2 telomere_biology_disorder Telomere Biology Disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 Telomere_Biology_Disorder 2 low_record_burden_interpretation_limited low_record_burden_gene POGZ mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POC1A poc1a_related_syndrome POC1A-related syndrome . 2 2 1.0000 condition_record_support_limited 20 0 0 POC1A-related_syndrome 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPT1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPO human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 2 Seizure 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPO pnpo_related_disorder PNPO-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 PNPO-related_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA6 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 2 2 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA6 mondo_mondo_0007794_medgen_c0342384_omim_146110_orphanet_432 Hypogonadotropic hypogonadism 7 with or without anosmia MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432 2 2 1.0000 condition_record_support_limited 20 0 2 Hypogonadotropic_hypogonadism_7_with_or_without_anosmia 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA6 human_phenotype_ontology_hp_0001260_human_phenotype_ontology_hp_0002327_medgen_c0013362 Dysarthria Human_Phenotype_Ontology:HP:0001260,Human_Phenotype_Ontology:HP:0002327,MedGen:C0013362 2 2 1.0000 condition_record_support_limited 20 0 2 Dysarthria 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA6 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 2 2 1.0000 condition_record_support_limited 20 0 2 Cerebellar_ataxia 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA2 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 2 2 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNLIP mondo_mondo_0013700_medgen_c3280527_omim_614338_orphanet_309031 Pancreatic triacylglycerol lipase deficiency MONDO:MONDO:0013700,MedGen:C3280527,OMIM:614338,Orphanet:309031 2 2 1.0000 condition_record_support_limited 20 0 1 Pancreatic_triacylglycerol_lipase_deficiency 18 low_record_burden_interpretation_limited low_record_burden_gene PNKD condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene PNKD mondo_mondo_0700089_medgen_c4551506_omim_118800_orphanet_98810 Paroxysmal nonkinesigenic dyskinesia 1 MONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800,Orphanet:98810 2 2 1.0000 condition_record_support_limited 20 0 2 Paroxysmal_nonkinesigenic_dyskinesia_1 4 low_record_burden_interpretation_limited low_record_burden_gene PNKD mondo_mondo_0700088_medgen_c1869117_orphanet_98810 Paroxysmal nonkinesigenic dyskinesia MONDO:MONDO:0700088,MedGen:C1869117,Orphanet:98810 2 2 1.0000 condition_record_support_limited 20 0 2 Paroxysmal_nonkinesigenic_dyskinesia 4 low_record_burden_interpretation_limited low_record_burden_gene PMS2 lynch_like_syndrome Lynch-like syndrome . 2 2 1.0000 condition_record_support_limited 20 0 2 Lynch-like_syndrome 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMS2 human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 2 2 1.0000 condition_record_support_limited 20 0 1 Breast_carcinoma 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMS1 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 1.0000 condition_record_support_limited 20 0 1 Ovarian_cancer 4 low_record_burden_interpretation_limited low_record_burden_gene PMPCA human_phenotype_ontology_hp_0011344_medgen_c1837397 Severe global developmental delay Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 2 2 1.0000 condition_record_support_limited 20 0 2 Severe_global_developmental_delay 12 low_record_burden_interpretation_limited low_record_burden_gene PMPCA human_phenotype_ontology_hp_0007846_human_phenotype_ontology_hp_0007936_human_phenotype_ontology_hp_0007959_human_phenotype_ontology_hp_0008025_medgen_c1865918 Restrictive external ophthalmoplegia Human_Phenotype_Ontology:HP:0007846,Human_Phenotype_Ontology:HP:0007936,Human_Phenotype_Ontology:HP:0007959,Human_Phenotype_Ontology:HP:0008025,MedGen:C1865918 2 2 1.0000 condition_record_support_limited 20 0 2 Restrictive_external_ophthalmoplegia 12 low_record_burden_interpretation_limited low_record_burden_gene PMPCA human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 2 2 1.0000 condition_record_support_limited 20 0 2 Optic_atrophy 12 low_record_burden_interpretation_limited low_record_burden_gene PMPCA human_phenotype_ontology_hp_0002343_mondo_mondo_0009366_medgen_c0020258_omim_236690 Normal pressure hydrocephalus Human_Phenotype_Ontology:HP:0002343,MONDO:MONDO:0009366,MedGen:C0020258,OMIM:236690 2 2 1.0000 condition_record_support_limited 20 0 2 Normal_pressure_hydrocephalus 12 low_record_burden_interpretation_limited low_record_burden_gene PMPCA human_phenotype_ontology_hp_0002791_human_phenotype_ontology_hp_0004892_medgen_c3203358 Hypoventilation Human_Phenotype_Ontology:HP:0002791,Human_Phenotype_Ontology:HP:0004892,MedGen:C3203358 2 2 1.0000 condition_record_support_limited 20 0 2 Hypoventilation 12 low_record_burden_interpretation_limited low_record_burden_gene PMPCA human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 2 2 1.0000 condition_record_support_limited 20 0 2 Hypertrophic_cardiomyopathy 12 low_record_burden_interpretation_limited low_record_burden_gene PMPCA human_phenotype_ontology_hp_0002283_human_phenotype_ontology_hp_0002369_human_phenotype_ontology_hp_0002462_medgen_c0241816 Global brain atrophy Human_Phenotype_Ontology:HP:0002283,Human_Phenotype_Ontology:HP:0002369,Human_Phenotype_Ontology:HP:0002462,MedGen:C0241816 2 2 1.0000 condition_record_support_limited 20 0 2 Global_brain_atrophy 12 low_record_burden_interpretation_limited low_record_burden_gene PMPCA human_phenotype_ontology_hp_0002449_human_phenotype_ontology_hp_0002523_human_phenotype_ontology_hp_0008947_human_phenotype_ontology_hp_0010572_medgen_c1860834 Floppy infant Human_Phenotype_Ontology:HP:0002449,Human_Phenotype_Ontology:HP:0002523,Human_Phenotype_Ontology:HP:0008947,Human_Phenotype_Ontology:HP:0010572,MedGen:C1860834 2 2 1.0000 condition_record_support_limited 20 0 2 Floppy_infant 12 low_record_burden_interpretation_limited low_record_burden_gene PMPCA human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 2 2 1.0000 condition_record_support_limited 20 0 2 Failure_to_thrive 12 low_record_burden_interpretation_limited low_record_burden_gene PMPCA human_phenotype_ontology_hp_0006928_human_phenotype_ontology_hp_0100275_medgen_c1854699 Diffuse cerebellar atrophy Human_Phenotype_Ontology:HP:0006928,Human_Phenotype_Ontology:HP:0100275,MedGen:C1854699 2 2 1.0000 condition_record_support_limited 20 0 2 Diffuse_cerebellar_atrophy 12 low_record_burden_interpretation_limited low_record_burden_gene PMPCA human_phenotype_ontology_hp_0004899_human_phenotype_ontology_hp_0004925_medgen_c1839437 Chronic lactic acidosis Human_Phenotype_Ontology:HP:0004899,Human_Phenotype_Ontology:HP:0004925,MedGen:C1839437 2 2 1.0000 condition_record_support_limited 20 0 2 Chronic_lactic_acidosis 12 low_record_burden_interpretation_limited low_record_burden_gene PMPCA human_phenotype_ontology_hp_0000618_human_phenotype_ontology_hp_0007839_mondo_mondo_0001941_medgen_c0456909 Blindness Human_Phenotype_Ontology:HP:0000618,Human_Phenotype_Ontology:HP:0007839,MONDO:MONDO:0001941,MedGen:C0456909 2 2 1.0000 condition_record_support_limited 20 0 2 Blindness 12 low_record_burden_interpretation_limited low_record_burden_gene PMPCA human_phenotype_ontology_hp_0001488_medgen_c1865916 Bilateral ptosis Human_Phenotype_Ontology:HP:0001488,MedGen:C1865916 2 2 1.0000 condition_record_support_limited 20 0 2 Bilateral_ptosis 12 low_record_burden_interpretation_limited low_record_burden_gene PMP22 mondo_mondo_0007691_medgen_c4083008_omim_139393_orphanet_98916 Guillain-Barre syndrome, familial MONDO:MONDO:0007691,MedGen:C4083008,OMIM:139393,Orphanet:98916 2 2 1.0000 condition_record_support_limited 20 0 2 Guillain-Barre_syndrome,_familial 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMP2 human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Peripheral neuropathy Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 2 2 1.0000 condition_record_support_limited 20 0 2 Peripheral_neuropathy 6 low_record_burden_interpretation_limited low_record_burden_gene PMM2 human_phenotype_ontology_hp_0001257_medgen_c0026838 Spasticity Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 2 2 1.0000 condition_record_support_limited 20 0 2 Spasticity 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMM2 human_phenotype_ontology_hp_0002465_medgen_c1848207 Poor speech Human_Phenotype_Ontology:HP:0002465,MedGen:C1848207 2 2 1.0000 condition_record_support_limited 20 0 2 Poor_speech 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMM2 human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Muscular dystrophy Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 2 2 1.0000 condition_record_support_limited 20 0 2 Muscular_dystrophy 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMM2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMM2 human_phenotype_ontology_hp_0000819_human_phenotype_ontology_hp_0004908_human_phenotype_ontology_hp_0008217_human_phenotype_ontology_hp_0008234_human_phenotype_ontology_hp_0008260_mondo_mondo_0005015_medgen_c0011849 Diabetes mellitus Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849 2 2 1.0000 condition_record_support_limited 20 0 2 Diabetes_mellitus 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMM2 human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 2 2 1.0000 condition_record_support_limited 20 0 2 Cerebral_palsy 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMM2 human_phenotype_ontology_hp_0002059_human_phenotype_ontology_hp_0002422_human_phenotype_ontology_hp_0006890_medgen_c0235946 Cerebral atrophy Human_Phenotype_Ontology:HP:0002059,Human_Phenotype_Ontology:HP:0002422,Human_Phenotype_Ontology:HP:0006890,MedGen:C0235946 2 2 1.0000 condition_record_support_limited 20 0 2 Cerebral_atrophy 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLXND1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene PLS1 mondo_mondo_0032917_medgen_c5394080_omim_618787 Hearing loss, autosomal dominant 76 MONDO:MONDO:0032917,MedGen:C5394080,OMIM:618787 2 2 1.0000 condition_record_support_limited 20 0 2 Hearing_loss,_autosomal_dominant_76 3 low_record_burden_interpretation_limited low_record_burden_gene PLS1 mondo_mondo_0019587_medgen_c5779548_omim_ps124900_orphanet_90635 Autosomal dominant nonsyndromic hearing loss MONDO:MONDO:0019587,MedGen:C5779548,OMIM:PS124900,Orphanet:90635 2 2 1.0000 condition_record_support_limited 20 0 2 Autosomal_dominant_nonsyndromic_hearing_loss 3 low_record_burden_interpretation_limited low_record_burden_gene PLP1 medgen_c4016483 Pelizaeus-Merzbacher disease, connatal MedGen:C4016483 2 2 1.0000 condition_record_support_limited 20 0 0 Pelizaeus-Merzbacher_disease,_connatal 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLP1 medgen_c0751915 Pelizaeus-Merzbacher disease, atypical MedGen:C0751915 2 2 1.0000 condition_record_support_limited 20 0 2 Pelizaeus-Merzbacher_disease,_atypical 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLP1 plp1_related_disorder PLP1-related disorder MedGen:CN378767 2 2 1.0000 condition_record_support_limited 20 0 2 PLP1-related_disorder 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD2 mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 Osteogenesis imperfecta MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 2 2 1.0000 condition_record_support_limited 20 0 2 Osteogenesis_imperfecta 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLN cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 2 2 1.0000 condition_record_support_limited 20 0 2 Cardiovascular_phenotype 11 low_record_burden_interpretation_limited low_record_burden_gene PLG plg_related_disorder PLG-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 PLG-related_disorder 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLG mondo_mondo_0100538_medgen_cn043003 Dysplasminogenemia MONDO:MONDO:0100538,MedGen:CN043003 2 2 1.0000 condition_record_support_limited 20 0 0 Dysplasminogenemia 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLEKHG5 mondo_mondo_0017593_medgen_c3468114_orphanet_300605 Juvenile amyotrophic lateral sclerosis MONDO:MONDO:0017593,MedGen:C3468114,Orphanet:300605 2 2 1.0000 condition_record_support_limited 20 0 0 Juvenile_amyotrophic_lateral_sclerosis 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLEKHG5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLEKHG2 mondo_mondo_0014766_medgen_c4225213_omim_616763 Leukodystrophy and acquired microcephaly with or without dystonia MONDO:MONDO:0014766,MedGen:C4225213,OMIM:616763 2 2 1.0000 condition_record_support_limited 20 0 1 Leukodystrophy_and_acquired_microcephaly_with_or_without_dystonia%3B 2 low_record_burden_interpretation_limited low_record_burden_gene PLEC mondo_mondo_0005301_medgen_c0026769 Multiple sclerosis MONDO:MONDO:0005301,MedGen:C0026769 2 2 1.0000 condition_record_support_limited 20 0 0 Multiple_sclerosis 154 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PLEC mondo_mondo_0017610_medgen_c0079298_omim_ps131760_orphanet_304 Epidermolysis bullosa simplex MONDO:MONDO:0017610,MedGen:C0079298,OMIM:PS131760,Orphanet:304 2 2 1.0000 condition_record_support_limited 20 0 0 Epidermolysis_bullosa_simplex 154 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PLD3 mondo_mondo_0033481_medgen_c4540404_omim_617770_orphanet_589522 Spinocerebellar ataxia 46 MONDO:MONDO:0033481,MedGen:C4540404,OMIM:617770,Orphanet:589522 2 2 1.0000 condition_record_support_limited 20 0 1 Spinocerebellar_ataxia_46 3 low_record_burden_interpretation_limited low_record_burden_gene PLD3 mondo_mondo_0018995_medgen_c4082197_orphanet_64749 Charcot-Marie-Tooth disease type 4 MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749 2 2 1.0000 condition_record_support_limited 20 0 2 Charcot-Marie-Tooth_disease_type_4 3 low_record_burden_interpretation_limited low_record_burden_gene PLCZ1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene PLCH1 mondo_mondo_0030886_medgen_c5676994_omim_619895 Holoprosencephaly 14 MONDO:MONDO:0030886,MedGen:C5676994,OMIM:619895 2 2 1.0000 condition_record_support_limited 20 0 0 Holoprosencephaly_14 2 low_record_burden_interpretation_limited low_record_burden_gene PLCG2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene PLCE1 plce1_related_disorder PLCE1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 PLCE1-related_disorder 63 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PLCD1 plcd1_related_disorder PLCD1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 PLCD1-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene PLCB4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLCB4 mondo_mondo_0957544_medgen_c5830664_omim_620458 Auriculocondylar syndrome 2B MONDO:MONDO:0957544,MedGen:C5830664,OMIM:620458 2 2 1.0000 condition_record_support_limited 20 0 1 Auriculocondylar_syndrome_2B 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLAG1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene PLAG1 mondo_mondo_0020796_medgen_c5393125_omim_180860_orphanet_813 Silver-Russell syndrome 1 MONDO:MONDO:0020796,MedGen:C5393125,OMIM:180860,Orphanet:813 2 2 1.0000 condition_record_support_limited 20 0 2 Silver-Russell_syndrome_1 11 low_record_burden_interpretation_limited low_record_burden_gene PLA2G6 pla2g6_related_disorder PLA2G6-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 PLA2G6-related_disorder 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKP2 efo_the_experimental_factor_ontology_efo_0005306_human_phenotype_ontology_hp_0004756_mondo_mondo_0005477_medgen_c0042514 Ventricular tachycardia EFO:_The_Experimental_Factor_Ontology:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514 2 2 1.0000 condition_record_support_limited 20 0 2 Ventricular_tachycardia 344 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKP2 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 2 2 1.0000 condition_record_support_limited 20 0 1 Hypertrophic_cardiomyopathy 344 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKP2 arrhythmogenic_ventricular_cardiomyopathy Arrhythmogenic ventricular cardiomyopathy . 2 2 1.0000 condition_record_support_limited 20 0 2 Arrhythmogenic_ventricular_cardiomyopathy 344 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKLR mondo_mondo_0000577_medgen_c0158995 Congenital anemia MONDO:MONDO:0000577,MedGen:C0158995 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_anemia 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKHD1 human_phenotype_ontology_hp_0001714_human_phenotype_ontology_hp_0005167_medgen_c0340279 Ventricular hypertrophy Human_Phenotype_Ontology:HP:0001714,Human_Phenotype_Ontology:HP:0005167,MedGen:C0340279 2 2 1.0000 condition_record_support_limited 20 0 2 Ventricular_hypertrophy 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PKHD1 human_phenotype_ontology_hp_0011040_medgen_c4023577 Abnormal intrahepatic bile duct morphology Human_Phenotype_Ontology:HP:0011040,MedGen:C4023577 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_intrahepatic_bile_duct_morphology 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PKDCC mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 20 compact_adjacent_exon_block_opportunity local_compact_architecture PKD1L1 human_phenotype_ontology_hp_0001696_mondo_mondo_0010029_medgen_c4551493_orphanet_101063 Situs inversus Human_Phenotype_Ontology:HP:0001696,MONDO:MONDO:0010029,MedGen:C4551493,Orphanet:101063 2 2 1.0000 condition_record_support_limited 20 0 1 Situs_inversus 60 large_gene_or_donor_burden_stress_case donor_burden_stress PKD1 polycystic_kidney_disease_adult_adpkd Polycystic kidney disease, adult (ADPKD) . 2 2 1.0000 condition_record_support_limited 20 0 0 Polycystic_kidney_disease,_adult_(ADPKD) 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKD1 human_phenotype_ontology_hp_0001737_medgen_c0030283 Pancreatic cysts Human_Phenotype_Ontology:HP:0001737,MedGen:C0030283 2 2 1.0000 condition_record_support_limited 20 0 2 Pancreatic_cysts 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PJVK pjvk_related_disorder PJVK-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 PJVK-related_disorder 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PITX3 pitx3_related_disorder PITX3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 PITX3-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene PITX3 medgen_c3807150 Cataract 11, posterior polar MedGen:C3807150 2 2 1.0000 condition_record_support_limited 20 0 2 Cataract_11,_posterior_polar 9 low_record_burden_interpretation_limited low_record_burden_gene PITX3 mondo_mondo_0007138_medgen_c4551992_omim_107250 Anterior segment dysgenesis 1 MONDO:MONDO:0007138,MedGen:C4551992,OMIM:107250 2 2 1.0000 condition_record_support_limited 20 0 2 Anterior_segment_dysgenesis_1 9 low_record_burden_interpretation_limited low_record_burden_gene PITX2 pitx2_related_disorder PITX2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 PITX2-related_disorder 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PITRM1 mondo_mondo_0030318_medgen_c5543620_omim_619405 Spinocerebellar ataxia, autosomal recessive 30 MONDO:MONDO:0030318,MedGen:C5543620,OMIM:619405 2 2 1.0000 condition_record_support_limited 20 0 0 Spinocerebellar_ataxia,_autosomal_recessive_30 4 low_record_burden_interpretation_limited low_record_burden_gene PIP5K1C mondo_mondo_0012656_medgen_c1969655_omim_611369_orphanet_137783 Lethal congenital contracture syndrome 3 MONDO:MONDO:0012656,MedGen:C1969655,OMIM:611369,Orphanet:137783 2 2 1.0000 condition_record_support_limited 20 0 0 Lethal_congenital_contracture_syndrome_3 7 low_record_burden_interpretation_limited low_record_burden_gene PIP5K1B mondo_mondo_0005439_medgen_c0020445_omim_ps143890 Familial hypercholesterolemia MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 2 2 1.0000 condition_record_support_limited 20 0 0 Familial_hypercholesterolemia 2 low_record_burden_interpretation_limited low_record_burden_gene PIK3R2 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 2 2 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 16 low_record_burden_interpretation_limited low_record_burden_gene PIK3R1 mondo_mondo_0019716_medgen_c2986703_orphanet_93460 Overgrowth syndrome MONDO:MONDO:0019716,MedGen:C2986703,Orphanet:93460 2 2 1.0000 condition_record_support_limited 20 0 1 Overgrowth_syndrome 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CD mondo_mondo_0013226_medgen_c2750068_omim_613328_orphanet_221139 Combined immunodeficiency with faciooculoskeletal anomalies MONDO:MONDO:0013226,MedGen:C2750068,OMIM:613328,Orphanet:221139 2 2 1.0000 condition_record_support_limited 20 0 1 Combined_immunodeficiency_with_faciooculoskeletal_anomalies 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA pik3ca_overgrowth_syndrome PIK3CA overgrowth syndrome . 2 2 1.0000 condition_record_support_limited 20 0 2 PIK3CA_overgrowth_syndrome 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA macrodactyly_somatic MACRODACTYLY, SOMATIC . 2 2 1.0000 condition_record_support_limited 20 0 2 MACRODACTYLY,_SOMATIC 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0008903_medgen_c0242379_omim_211980 Lung cancer MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 2 2 1.0000 condition_record_support_limited 20 0 2 Lung_cancer 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0011723_medgen_c1847521_omim_606773_orphanet_141148 Hemifacial myohyperplasia MONDO:MONDO:0011723,MedGen:C1847521,OMIM:606773,Orphanet:141148 2 2 1.0000 condition_record_support_limited 20 0 1 Hemifacial_myohyperplasia 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0008021_medgen_cn072330_omim_158350 Cowden syndrome 1 MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350 2 2 1.0000 condition_record_support_limited 20 0 1 Cowden_syndrome_1 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0002060_medgen_c4021762 Abnormal cerebral morphology Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_cerebral_morphology 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3C2G condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene PIGY mondo_mondo_0014780_medgen_c4225201_omim_616809_orphanet_247262 Hyperphosphatasia with intellectual disability syndrome 6 MONDO:MONDO:0014780,MedGen:C4225201,OMIM:616809,Orphanet:247262 2 2 1.0000 condition_record_support_limited 20 0 0 Hyperphosphatasia_with_intellectual_disability_syndrome_6 3 low_record_burden_interpretation_limited low_record_burden_gene PIGV mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 9 low_record_burden_interpretation_limited low_record_burden_gene PIGT human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGP condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene PIGP mondo_mondo_0033364_medgen_c4539843_omim_617599 Developmental and epileptic encephalopathy, 55 MONDO:MONDO:0033364,MedGen:C4539843,OMIM:617599 2 2 1.0000 condition_record_support_limited 20 0 2 Developmental_and_epileptic_encephalopathy,_55 2 low_record_burden_interpretation_limited low_record_burden_gene PIGP mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 2 2 1.0000 condition_record_support_limited 20 0 2 Developmental_and_epileptic_encephalopathy 2 low_record_burden_interpretation_limited low_record_burden_gene PIGO mondo_mondo_0016596_medgen_c1855923_omim_ps239300_orphanet_247262 Hyperphosphatasia-intellectual disability syndrome MONDO:MONDO:0016596,MedGen:C1855923,OMIM:PS239300,Orphanet:247262 2 2 1.0000 condition_record_support_limited 20 0 1 Hyperphosphatasia-intellectual_disability_syndrome 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGN mondo_mondo_0100247_medgen_c5191419_omim_ps614080_orphanet_280633 Multiple congenital anomalies-hypotonia-seizures syndrome MONDO:MONDO:0100247,MedGen:C5191419,OMIM:PS614080,Orphanet:280633 2 2 1.0000 condition_record_support_limited 20 0 2 Multiple_congenital_anomalies-hypotonia-seizures_syndrome 179 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGL pigl_related_disorder PIGL-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 PIGL-related_disorder 20 compact_adjacent_exon_block_opportunity local_compact_architecture PIGK condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene PIGH mondo_mondo_0060724_medgen_c4747891_omim_618010 Glycosylphosphatidylinositol biosynthesis defect 17 MONDO:MONDO:0060724,MedGen:C4747891,OMIM:618010 2 2 1.0000 condition_record_support_limited 20 0 0 Glycosylphosphatidylinositol_biosynthesis_defect_17 2 low_record_burden_interpretation_limited low_record_burden_gene PIEZO2 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 2 2 1.0000 condition_record_support_limited 20 0 2 Fetal_akinesia_deformation_sequence_1 134 large_gene_or_donor_burden_stress_case donor_burden_stress PIEZO2 human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 2 2 1.0000 condition_record_support_limited 20 0 2 Arthrogryposis_multiplex_congenita 134 large_gene_or_donor_burden_stress_case donor_burden_stress PIEZO1 human_phenotype_ontology_hp_0000474_human_phenotype_ontology_hp_0000477_medgen_c1836940 Thickened nuchal skin fold Human_Phenotype_Ontology:HP:0000474,Human_Phenotype_Ontology:HP:0000477,MedGen:C1836940 2 2 1.0000 condition_record_support_limited 20 0 2 Thickened_nuchal_skin_fold 120 large_gene_or_donor_burden_stress_case donor_burden_stress PIEZO1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 120 large_gene_or_donor_burden_stress_case donor_burden_stress PIEZO1 human_phenotype_ontology_hp_0001789_mondo_mondo_0015193_medgen_c0020305_orphanet_1041 Hydrops fetalis Human_Phenotype_Ontology:HP:0001789,MONDO:MONDO:0015193,MedGen:C0020305,Orphanet:1041 2 2 1.0000 condition_record_support_limited 20 0 2 Hydrops_fetalis 120 large_gene_or_donor_burden_stress_case donor_burden_stress PIDD1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 15 low_record_burden_interpretation_limited low_record_burden_gene PIBF1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene PIBF1 mondo_mondo_0009072_mesh_d003616_medgen_c0010964_omim_220200_orphanet_217 Dandy-Walker syndrome MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217 2 2 1.0000 condition_record_support_limited 20 0 2 Dandy-Walker_syndrome 17 low_record_burden_interpretation_limited low_record_burden_gene PIBF1 human_phenotype_ontology_hp_0011815_mondo_mondo_0017078_medgen_c0014065_orphanet_268817 Cephalocele Human_Phenotype_Ontology:HP:0011815,MONDO:MONDO:0017078,MedGen:C0014065,Orphanet:268817 2 2 1.0000 condition_record_support_limited 20 0 2 Cephalocele 17 low_record_burden_interpretation_limited low_record_burden_gene PI4K2A mondo_mondo_0958240_medgen_c5935585_omim_620732 Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities MONDO:MONDO:0958240,MedGen:C5935585,OMIM:620732 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_hyperkinetic_movements,_seizures,_and_structural_brain_abnormalities 2 low_record_burden_interpretation_limited low_record_burden_gene PHYH human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHYH phyh_related_disorder PHYH-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 PHYH-related_disorder 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHOX2B mondo_mondo_0013082_medgen_c5191058_orphanet_2151 Hirschsprung disease-ganglioneuroblastoma syndrome MONDO:MONDO:0013082,MedGen:C5191058,Orphanet:2151 2 2 1.0000 condition_record_support_limited 20 0 1 Hirschsprung_disease-ganglioneuroblastoma_syndrome 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHOX2A mondo_mondo_0011181_medgen_c1865915_omim_602078 Fibrosis of extraocular muscles, congenital, 2 MONDO:MONDO:0011181,MedGen:C1865915,OMIM:602078 2 2 1.0000 condition_record_support_limited 20 0 0 Fibrosis_of_extraocular_muscles,_congenital,_2 2 low_record_burden_interpretation_limited low_record_burden_gene PHLDB1 mondo_mondo_0957988_medgen_c5882757_omim_620639 Osteogenesis imperfecta, type 23 MONDO:MONDO:0957988,MedGen:C5882757,OMIM:620639 2 2 1.0000 condition_record_support_limited 20 0 0 Osteogenesis_imperfecta,_type_23 2 low_record_burden_interpretation_limited low_record_burden_gene PHKG2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHKG2 glycogen_storage_disease_type_ixc Glycogen storage disease type IXc . 2 2 1.0000 condition_record_support_limited 20 0 2 Glycogen_storage_disease_type_IXc 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHKA2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHKA2 mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 Glycogen storage disease MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 2 2 1.0000 condition_record_support_limited 20 0 1 Glycogen_storage_disease 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHKA1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHGDH autosomal_recessive_phgdh_related_disorders Autosomal recessive PHGDH-related disorders . 2 2 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_PHGDH-related_disorders 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF6 phf6_related_disorder PHF6-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 PHF6-related_disorder 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF5A condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene PHF20 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 1.0000 condition_record_support_limited 20 0 0 Short_stature 2 low_record_burden_interpretation_limited low_record_burden_gene PHC1 mondo_mondo_0014173_medgen_c3809431_omim_615414_orphanet_2512 Microcephaly 11, primary, autosomal recessive MONDO:MONDO:0014173,MedGen:C3809431,OMIM:615414,Orphanet:2512 2 2 1.0000 condition_record_support_limited 20 0 1 Microcephaly_11,_primary,_autosomal_recessive 2 low_record_burden_interpretation_limited low_record_burden_gene PGRMC1 medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 2 2 1.0000 condition_record_support_limited 20 0 0 Genetic_non-acquired_premature_ovarian_failure 2 low_record_burden_interpretation_limited low_record_burden_gene PGM3 pgm3_related_disorder PGM3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 PGM3-related_disorder 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PGM1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PGAP1 cerebral_visual_impairment_and_intellectual_disability Cerebral visual impairment and intellectual disability . 2 2 1.0000 condition_record_support_limited 20 0 2 Cerebral_visual_impairment_and_intellectual_disability 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PFAS mondo_mondo_0024564_medgen_c4552029_omim_612199_orphanet_313838 Cerebroretinal microangiopathy with calcifications and cysts 1 MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199,Orphanet:313838 2 2 1.0000 condition_record_support_limited 20 0 2 Cerebroretinal_microangiopathy_with_calcifications_and_cysts_1 8 low_record_burden_interpretation_limited low_record_burden_gene PEX7 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_disorder 142 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 142 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX5 pex5_related_disorder PEX5-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 PEX5-related_disorder 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX3 mondo_mondo_0054549_medgen_c4479254_omim_617370 Peroxisome biogenesis disorder 10B MONDO:MONDO:0054549,MedGen:C4479254,OMIM:617370 2 2 1.0000 condition_record_support_limited 20 0 1 Peroxisome_biogenesis_disorder_10B 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX26 pex26_related_disorder PEX26-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 PEX26-related_disorder 63 compact_adjacent_exon_block_opportunity local_compact_architecture PEX19 mondo_mondo_0019609_medgen_c0043459_orphanet_912 Zellweger spectrum disorders MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912 2 2 1.0000 condition_record_support_limited 20 0 1 Zellweger_spectrum_disorders 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX10 pex10_related_disorder PEX10-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 PEX10-related_disorder 142 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX10 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 142 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX1 peroxisome_biogenesis_disorder_type_1a Peroxisome biogenesis disorder type 1A . 2 2 1.0000 condition_record_support_limited 20 0 2 Peroxisome_biogenesis_disorder_type_1A 469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PERP mondo_mondo_0030941_medgen_c5543106_omim_619209 Erythrokeratodermia variabilis et progressiva 7 MONDO:MONDO:0030941,MedGen:C5543106,OMIM:619209 2 2 1.0000 condition_record_support_limited 20 0 1 Erythrokeratodermia_variabilis_et_progressiva_7 6 low_record_burden_interpretation_limited low_record_burden_gene PER3 condition_not_provided condition not provided .|MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 See_cases|not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene PER2 mondo_mondo_0011442_medgen_c3807327_omim_604348_orphanet_164736 Advanced sleep phase syndrome 1 MONDO:MONDO:0011442,MedGen:C3807327,OMIM:604348,Orphanet:164736 2 2 1.0000 condition_record_support_limited 20 0 0 Advanced_sleep_phase_syndrome_1 2 low_record_burden_interpretation_limited low_record_burden_gene PEPD pepd_related_disorder PEPD-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 PEPD-related_disorder 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDZRN3 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 1.0000 condition_record_support_limited 20 0 0 Short_stature 3 low_record_burden_interpretation_limited low_record_burden_gene PDZD8 mondo_mondo_0859281_medgen_c5774206_omim_620021 Intellectual developmental disorder with autism and dysmorphic facies MONDO:MONDO:0859281,MedGen:C5774206,OMIM:620021 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder_with_autism_and_dysmorphic_facies 2 low_record_burden_interpretation_limited low_record_burden_gene PDZD7 mondo_mondo_0010169_medgen_c1848634_omim_276901_orphanet_231178_orphanet_886 Usher syndrome type 2A MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886 2 2 1.0000 condition_record_support_limited 20 0 2 Usher_syndrome_type_2A 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDZD7 mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 Usher syndrome MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 2 2 1.0000 condition_record_support_limited 20 0 0 Usher_syndrome 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDZD7 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 2 Hearing_loss,_autosomal_recessive 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDYN mondo_mondo_0012449_medgen_c1853250_omim_610245_orphanet_101108 Spinocerebellar ataxia type 23 MONDO:MONDO:0012449,MedGen:C1853250,OMIM:610245,Orphanet:101108 2 2 1.0000 condition_record_support_limited 20 0 0 Spinocerebellar_ataxia_type_23 2 low_record_burden_interpretation_limited low_record_burden_gene PDX1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene PDX1 pdx1_related_disorder PDX1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 PDX1-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene PDSS2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene PDP1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene PDHX mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDGFRB human_phenotype_ontology_hp_0006782_mondo_mondo_0007546_medgen_c1851585_omim_131440 Myeloproliferative disorder, chronic, with eosinophilia Human_Phenotype_Ontology:HP:0006782,MONDO:MONDO:0007546,MedGen:C1851585,OMIM:131440 2 2 1.0000 condition_record_support_limited 20 0 2 Myeloproliferative_disorder,_chronic,_with_eosinophilia 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6G condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene PDE6C mondo_mondo_0000455_medgen_c0730290_orphanet_1871 Cone dystrophy MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 2 2 1.0000 condition_record_support_limited 20 0 0 Cone_dystrophy 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE2A condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene PDE11A condition_not_provided condition not provided MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene PCYT2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene PCYT1A mondo_mondo_0958023_medgen_c5882745_omim_620680 Lipodystrophy, congenital generalized, type 5 MONDO:MONDO:0958023,MedGen:C5882745,OMIM:620680 2 2 1.0000 condition_record_support_limited 20 0 0 Lipodystrophy,_congenital_generalized,_type_5 14 low_record_burden_interpretation_limited low_record_burden_gene PCSK9 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene PCSK1 medgen_c2676498_omim_612362 Body mass index quantitative trait locus 12 MedGen:C2676498,OMIM:612362 2 2 1.0000 condition_record_support_limited 20 0 1 Body_mass_index_quantitative_trait_locus_12 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCGF2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene PCGF2 mondo_mondo_0032707_medgen_c5193060_omim_618371_orphanet_688642 Turnpenny-fry syndrome MONDO:MONDO:0032707,MedGen:C5193060,OMIM:618371,Orphanet:688642 2 2 1.0000 condition_record_support_limited 20 0 2 Turnpenny-fry_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene PCGF2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 3 low_record_burden_interpretation_limited low_record_burden_gene PCDH19 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH15 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PCDH12 mondo_mondo_0021147_medgen_c0694457 Disorder of development or morphogenesis MONDO:MONDO:0021147,MedGen:C0694457 2 2 1.0000 condition_record_support_limited 20 0 1 Disorder_of_development_or_morphogenesis 31 compact_adjacent_exon_block_opportunity local_compact_architecture PCARE medgen_c5829987 Cone-rod dystrophy 23 MedGen:C5829987 2 2 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy_23 151 compact_adjacent_exon_block_opportunity local_compact_architecture PCARE human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 2 2 1.0000 condition_record_support_limited 20 0 2 Cone-rod_dystrophy 151 compact_adjacent_exon_block_opportunity local_compact_architecture PBX1 coracoclavicular_ankylosis coracoclavicular ankylosis . 2 2 1.0000 condition_record_support_limited 20 0 0 coracoclavicular_ankylosis 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 sporadic_aniridia Sporadic aniridia . 2 2 1.0000 condition_record_support_limited 20 0 2 Sporadic_aniridia 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Congenital ocular coloboma Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_ocular_coloboma 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 mondo_mondo_0008681_medgen_c0206115_omim_194072_orphanet_893 11p partial monosomy syndrome MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072,Orphanet:893 2 2 1.0000 condition_record_support_limited 20 0 2 11p_partial_monosomy_syndrome 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX5 mondo_mondo_0014241_medgen_c3809874_omim_615545 Leukemia, acute lymphoblastic, susceptibility to, 3 MONDO:MONDO:0014241,MedGen:C3809874,OMIM:615545 2 2 1.0000 condition_record_support_limited 20 0 2 Leukemia,_acute_lymphoblastic,_susceptibility_to,_3 18 low_record_burden_interpretation_limited low_record_burden_gene PAX5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 18 low_record_burden_interpretation_limited low_record_burden_gene PAX3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PARS2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene PARD3 human_phenotype_ontology_hp_0045005_mondo_mondo_0018075_medgen_c0027794_orphanet_3388_orphanet_823 Neural tube defect Human_Phenotype_Ontology:HP:0045005,MONDO:MONDO:0018075,MedGen:C0027794,Orphanet:3388,Orphanet:823 2 2 1.0000 condition_record_support_limited 20 0 0 Neural_tube_defect 2 low_record_burden_interpretation_limited low_record_burden_gene PAPSS2 papss2_related_disorder PAPSS2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 PAPSS2-related_disorder 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PANK2 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PANK2 pank2_related_disorder PANK2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 PANK2-related_disorder 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PANK2 human_phenotype_ontology_hp_0002180_mondo_mondo_0005559_medgen_c0027746 Neurodegeneration Human_Phenotype_Ontology:HP:0002180,MONDO:MONDO:0005559,MedGen:C0027746 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodegeneration 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAM16 mondo_mondo_0013223_medgen_c2750075_omim_613320_orphanet_401979 Autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:MONDO:0013223,MedGen:C2750075,OMIM:613320,Orphanet:401979 2 2 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_spondylometaphyseal_dysplasia,_Megarbane_type 2 low_record_burden_interpretation_limited low_record_burden_gene PALB2 mondo_mondo_0007356_medgen_c2936783_omim_120435_orphanet_144 Lynch syndrome 1 MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144 2 2 1.0000 condition_record_support_limited 20 0 1 Lynch_syndrome_1 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PAK3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAK2 mondo_mondo_0100119_medgen_c5676897_omim_618458 Knobloch syndrome 2 MONDO:MONDO:0100119,MedGen:C5676897,OMIM:618458 2 2 1.0000 condition_record_support_limited 20 0 0 Knobloch_syndrome_2 3 low_record_burden_interpretation_limited low_record_burden_gene PAH mondo_mondo_0014679_medgen_c4225295_omim_616531 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:MONDO:0014679,MedGen:C4225295,OMIM:616531 2 2 1.0000 condition_record_support_limited 20 0 2 Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis 886 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAH medgen_c2678416 Mild non-PKU hyperphenylalanemia MedGen:C2678416 2 2 1.0000 condition_record_support_limited 20 0 2 Mild_non-PKU_hyperphenylalanemia 886 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAH mondo_mondo_0019335_medgen_c5680207_orphanet_79651 Mild hyperphenylalaninemia MONDO:MONDO:0019335,MedGen:C5680207,Orphanet:79651 2 2 1.0000 condition_record_support_limited 20 0 2 Mild_hyperphenylalaninemia 886 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAGE2B mondo_mondo_0020721_medgen_c4551511_omim_300751_orphanet_75563 X-linked sideroblastic anemia 1 MONDO:MONDO:0020721,MedGen:C4551511,OMIM:300751,Orphanet:75563 2 2 1.0000 condition_record_support_limited 20 0 1 X-linked_sideroblastic_anemia_1 2 low_record_burden_interpretation_limited low_record_burden_gene PAFAH1B1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAFAH1B1 human_phenotype_ontology_hp_0002060_medgen_c4021762 Abnormal cerebral morphology Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 2 2 1.0000 condition_record_support_limited 20 0 1 Abnormal_cerebral_morphology 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PADI6 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PADI6 padi6_related_disorder PADI6-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 PADI6-related_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PADI3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene PACS2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene PACS1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 6 low_record_burden_interpretation_limited low_record_burden_gene PACRG condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene PACRG mondo_mondo_0010820_medgen_c1868675_omim_600116_orphanet_2828 Autosomal recessive juvenile Parkinson disease 2 MONDO:MONDO:0010820,MedGen:C1868675,OMIM:600116,Orphanet:2828 2 2 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_juvenile_Parkinson_disease_2 3 low_record_burden_interpretation_limited low_record_burden_gene P4HB condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene P4HB mondo_mondo_0007204_medgen_c4317154_omim_112240_orphanet_2050 Cole-Carpenter syndrome 1 MONDO:MONDO:0007204,MedGen:C4317154,OMIM:112240,Orphanet:2050 2 2 1.0000 condition_record_support_limited 20 0 1 Cole-Carpenter_syndrome_1 3 low_record_burden_interpretation_limited low_record_burden_gene P4HA2 medgen_c5394216 High myopia, early-onset MedGen:C5394216 2 2 1.0000 condition_record_support_limited 20 0 2 High_myopia,_early-onset 4 low_record_burden_interpretation_limited low_record_burden_gene P2RY12 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture P2RY12 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture P2RX2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene OXTR human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Elevated circulating creatine kinase concentration Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 2 2 1.0000 condition_record_support_limited 20 0 2 Elevated_circulating_creatine_kinase_concentration 16 low_record_burden_interpretation_limited low_record_burden_gene OXR1 mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 2 2 1.0000 condition_record_support_limited 20 0 0 Congenital_cerebellar_hypoplasia 2 low_record_burden_interpretation_limited low_record_burden_gene OXCT1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OXCT1 oxct1_related_disorder OXCT1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 OXCT1-related_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OXA1L mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_disease 3 low_record_burden_interpretation_limited low_record_burden_gene OTUD7A mondo_mondo_0968979_medgen_c5935609_omim_620790 Neurodevelopmental disorder with hypotonia and seizures MONDO:MONDO:0968979,MedGen:C5935609,OMIM:620790 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_hypotonia_and_seizures 3 low_record_burden_interpretation_limited low_record_burden_gene OTUD6B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTOG monogenic_hearing_loss Monogenic hearing loss . 2 2 1.0000 condition_record_support_limited 20 0 2 Monogenic_hearing_loss 130 large_gene_or_donor_burden_stress_case donor_burden_stress OTOG mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive 130 large_gene_or_donor_burden_stress_case donor_burden_stress OTOG human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 1.0000 condition_record_support_limited 20 0 0 Hearing_impairment 130 large_gene_or_donor_burden_stress_case donor_burden_stress OTOF mondo_mondo_0014123_medgen_c3809087_omim_615294_orphanet_244 Primary ciliary dyskinesia 21 MONDO:MONDO:0014123,MedGen:C3809087,OMIM:615294,Orphanet:244 2 2 1.0000 condition_record_support_limited 20 0 0 Primary_ciliary_dyskinesia_21 355 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture OTOF human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 2 2 1.0000 condition_record_support_limited 20 0 1 Ear_malformation 355 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture OTOF medgen_c0011053 Deafness MedGen:C0011053 2 2 1.0000 condition_record_support_limited 20 0 2 Deafness 355 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture OTOF mondo_mondo_0010860_medgen_c1838263_omim_600316_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 3 MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_nonsyndromic_hearing_loss_3 355 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture OTOA monogenic_hearing_loss Monogenic hearing loss . 2 2 1.0000 condition_record_support_limited 20 0 2 Monogenic_hearing_loss 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTOA mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTC likely_inborn_error_of_metabolism Likely inborn error of metabolism . 2 2 1.0000 condition_record_support_limited 20 0 2 Likely_inborn_error_of_metabolism 438 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OSMR condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene OSGEP human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 2 2 1.0000 condition_record_support_limited 20 0 2 Nephrotic_syndrome 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OSBPL2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene ORC3 orc3_related_disorder ORC3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 ORC3-related_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene OPLAH condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPHN1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 1 Seizure 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPHN1 ophn1_related_disorder OPHN1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 OPHN1-related_disorder 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA1 human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 2 2 1.0000 condition_record_support_limited 20 0 1 Tip-toe_gait 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA1 mondo_mondo_0800181_medgen_cn322459 OPA1-related optic atrophy with or without extraocular features MONDO:MONDO:0800181,MedGen:CN322459 2 2 1.0000 condition_record_support_limited 20 0 2 OPA1-related_optic_atrophy_with_or_without_extraocular_features 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA1 mondo_mondo_0980967_medgen_cn380849_omim_621481 Mitochondrial dna depletion syndrome 14A (encephalomyopathic type) MONDO:MONDO:0980967,MedGen:CN380849,OMIM:621481 2 2 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_dna_depletion_syndrome_14A_(encephalomyopathic_type) 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA1 mondo_mondo_0011693_medgen_c1847730_omim_606657 Glaucoma, normal tension, susceptibility to MONDO:MONDO:0011693,MedGen:C1847730,OMIM:606657 2 2 1.0000 condition_record_support_limited 20 0 2 Glaucoma,_normal_tension,_susceptibility_to 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OFD1 mondo_mondo_0010731_medgen_c4317043_orphanet_373 Simpson-Golabi-Behmel syndrome MONDO:MONDO:0010731,MedGen:C4317043,Orphanet:373 2 2 1.0000 condition_record_support_limited 20 0 1 Simpson-Golabi-Behmel_syndrome 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ODC1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene ODAD4 odad4_related_disorder ODAD4-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 ODAD4-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene ODAD3 mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 Kartagener syndrome MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 2 2 1.0000 condition_record_support_limited 20 0 1 Kartagener_syndrome 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ODAD2 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 2 2 1.0000 condition_record_support_limited 20 0 2 Male_infertility 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ODAD1 mondo_mondo_0014459_medgen_c4014970_omim_616028_orphanet_974 Adams-Oliver syndrome 5 MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028,Orphanet:974 2 2 1.0000 condition_record_support_limited 20 0 2 Adams-Oliver_syndrome_5 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OCRL nephrolithiasis_nephrocalcinosis Nephrolithiasis/nephrocalcinosis MedGen:CN580796 2 2 1.0000 condition_record_support_limited 20 0 1 Nephrolithiasis/nephrocalcinosis 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OCRL mondo_mondo_0015612_medgen_c0878681_omim_ps300009_orphanet_1652 Dent disease MONDO:MONDO:0015612,MedGen:C0878681,OMIM:PS300009,Orphanet:1652 2 2 1.0000 condition_record_support_limited 20 0 0 Dent_disease 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OBSL1 mondo_mondo_0010117_medgen_c2678312_omim_273750_orphanet_2616 3M syndrome 1 MONDO:MONDO:0010117,MedGen:C2678312,OMIM:273750,Orphanet:2616 2 2 1.0000 condition_record_support_limited 20 0 1 3M_syndrome_1 73 compact_adjacent_exon_block_opportunity local_compact_architecture OBSCN obscn_related_disorder OBSCN-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 OBSCN-related_disorder 55 large_gene_or_donor_burden_stress_case donor_burden_stress OAT medgen_c4017305 Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia MedGen:C4017305 2 2 1.0000 condition_record_support_limited 20 0 2 Gyrate_atrophy_of_choroid_and_retina_with_pyridoxine-responsive_ornithinemia 150 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OAS1 mondo_mondo_0020840_medgen_c4747984_omim_618042 Pulmonary alveolar proteinosis with hypogammaglobulinemia MONDO:MONDO:0020840,MedGen:C4747984,OMIM:618042 2 2 1.0000 condition_record_support_limited 20 0 1 Pulmonary_alveolar_proteinosis_with_hypogammaglobulinemia 2 low_record_burden_interpretation_limited low_record_burden_gene NYX nyx_related_disorder NYX-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 NYX-related_disorder 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NUS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 81 compact_adjacent_exon_block_opportunity local_compact_architecture NUP214 nup14_related_disorders NUP14 Related Disorders . 2 2 1.0000 condition_record_support_limited 20 0 0 NUP14_Related_Disorders 10 low_record_burden_interpretation_limited low_record_burden_gene NUP205 mondo_mondo_0014818_medgen_c4225165_omim_616893_orphanet_656 Nephrotic syndrome, type 13 MONDO:MONDO:0014818,MedGen:C4225165,OMIM:616893,Orphanet:656 2 2 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome,_type_13 2 low_record_burden_interpretation_limited low_record_burden_gene NUP188 nup188_related_disorder NUP188-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 NUP188-related_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene NUP188 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 2 Microcephaly 18 low_record_burden_interpretation_limited low_record_burden_gene NUP133 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene NUP133 mondo_mondo_0032693_medgen_c5193045_omim_618349 Galloway-Mowat syndrome 8 MONDO:MONDO:0032693,MedGen:C5193045,OMIM:618349 2 2 1.0000 condition_record_support_limited 20 0 0 Galloway-Mowat_syndrome_8 8 low_record_burden_interpretation_limited low_record_burden_gene NUDC human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 2 2 1.0000 condition_record_support_limited 20 0 2 Obesity 4 low_record_burden_interpretation_limited low_record_burden_gene NUDC apc_mutation_negative_familial_colorectal_cancer APC-mutation negative familial colorectal cancer . 2 2 1.0000 condition_record_support_limited 20 0 2 APC-mutation_negative_familial_colorectal_cancer 4 low_record_burden_interpretation_limited low_record_burden_gene NUBPL mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 19 low_record_burden_interpretation_limited low_record_burden_gene NT5E nt5e_related_disorder NT5E-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 NT5E-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene NT5DC4 mondo_mondo_0010092_medgen_c0795940_omim_272440_orphanet_3255 Filippi syndrome MONDO:MONDO:0010092,MedGen:C0795940,OMIM:272440,Orphanet:3255 2 2 1.0000 condition_record_support_limited 20 0 1 Filippi_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene NT5DC1 col10a1_related_disorder COL10A1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 COL10A1-related_disorder 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NSUN2 mondo_mondo_0019502_medgen_c5680181_omim_ps249500_orphanet_88616 Autosomal recessive non-syndromic intellectual disability MONDO:MONDO:0019502,MedGen:C5680181,OMIM:PS249500,Orphanet:88616 2 2 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_non-syndromic_intellectual_disability 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NSRP1 human_phenotype_ontology_hp_0001257_medgen_c0026838 Spasticity Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 2 2 1.0000 condition_record_support_limited 20 0 2 Spasticity 5 low_record_burden_interpretation_limited low_record_burden_gene NSRP1 human_phenotype_ontology_hp_0011344_medgen_c1837397 Severe global developmental delay Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 2 2 1.0000 condition_record_support_limited 20 0 2 Severe_global_developmental_delay 5 low_record_burden_interpretation_limited low_record_burden_gene NSRP1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 2 Seizure 5 low_record_burden_interpretation_limited low_record_burden_gene NSRP1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 2 Microcephaly 5 low_record_burden_interpretation_limited low_record_burden_gene NSMCE3 mondo_mondo_0014984_medgen_c4310653_omim_617241 Lung disease, immunodeficiency, and chromosome breakage syndrome MONDO:MONDO:0014984,MedGen:C4310653,OMIM:617241 2 2 1.0000 condition_record_support_limited 20 0 2 Lung_disease,_immunodeficiency,_and_chromosome_breakage_syndrome%3B 2 low_record_burden_interpretation_limited low_record_burden_gene NSMCE3 lung_damage_immunodeficiency_and_chromosome_breakage_syndrome Lung damage, immunodeficiency and chromosome breakage syndrome . 2 2 1.0000 condition_record_support_limited 20 0 2 Lung_damage,_immunodeficiency_and_chromosome_breakage_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene NSD2 mondo_mondo_0000508_medgen_c5680525_orphanet_183763 Syndromic intellectual disability MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 2 2 1.0000 condition_record_support_limited 20 0 0 Syndromic_intellectual_disability 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NSD1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_delay 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NSD1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NRAS human_phenotype_ontology_hp_0010817_mondo_mondo_0008097_medgen_c4552097_omim_163200_orphanet_2612 Linear nevus sebaceous syndrome Human_Phenotype_Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612 2 2 1.0000 condition_record_support_limited 20 0 2 Linear_nevus_sebaceous_syndrome 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAP nrap_related_disorder NRAP-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 NRAP-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene NRAP cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 2 2 1.0000 condition_record_support_limited 20 0 0 Cardiovascular_phenotype 10 low_record_burden_interpretation_limited low_record_burden_gene NR5A1 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 2 2 1.0000 condition_record_support_limited 20 0 2 Non-obstructive_azoospermia 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR3C2 renal_tubulopathies Renal tubulopathies . 2 2 1.0000 condition_record_support_limited 20 0 0 Renal_tubulopathies 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR3C2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR3C2 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR2F2 nr2f2_associated_disorders NR2F2 associated disorders . 2 2 1.0000 condition_record_support_limited 20 0 0 NR2F2_associated_disorders 35 compact_adjacent_exon_block_opportunity local_compact_architecture NR2F1-AS1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 0 Seizure 79 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture NR2F1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 0 Seizure 118 compact_adjacent_exon_block_opportunity local_compact_architecture NR2F1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 118 compact_adjacent_exon_block_opportunity local_compact_architecture NR2E3 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR2E3 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 2 2 1.0000 condition_record_support_limited 20 0 2 Cone-rod_dystrophy 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR1H4 mondo_mondo_0008892_medgen_c4551898_omim_211600_orphanet_79306 Progressive familial intrahepatic cholestasis type 1 MONDO:MONDO:0008892,MedGen:C4551898,OMIM:211600,Orphanet:79306 2 2 1.0000 condition_record_support_limited 20 0 2 Progressive_familial_intrahepatic_cholestasis_type_1 14 low_record_burden_interpretation_limited low_record_burden_gene NR0B2 human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 2 2 1.0000 condition_record_support_limited 20 0 2 Obesity 4 low_record_burden_interpretation_limited low_record_burden_gene NR0B2 apc_mutation_negative_familial_colorectal_cancer APC-mutation negative familial colorectal cancer . 2 2 1.0000 condition_record_support_limited 20 0 2 APC-mutation_negative_familial_colorectal_cancer 4 low_record_burden_interpretation_limited low_record_burden_gene NQO1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene NPRL3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPRL2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 0 Seizure 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPR2 human_phenotype_ontology_hp_0004060_medgen_c0426874 Trident hand Human_Phenotype_Ontology:HP:0004060,MedGen:C0426874 2 2 1.0000 condition_record_support_limited 20 0 2 Trident_hand 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPR2 mondo_mondo_0014551_medgen_cn379227_omim_616255 Short stature with nonspecific skeletal abnormalities 1 MONDO:MONDO:0014551,MedGen:CN379227,OMIM:616255 2 2 1.0000 condition_record_support_limited 20 0 1 Short_stature_with_nonspecific_skeletal_abnormalities_1 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPR2 human_phenotype_ontology_hp_0003058_human_phenotype_ontology_hp_0005049_human_phenotype_ontology_hp_0005057_human_phenotype_ontology_hp_0009826_medgen_c0239399 Limb undergrowth Human_Phenotype_Ontology:HP:0003058,Human_Phenotype_Ontology:HP:0005049,Human_Phenotype_Ontology:HP:0005057,Human_Phenotype_Ontology:HP:0009826,MedGen:C0239399 2 2 1.0000 condition_record_support_limited 20 0 2 Limb_undergrowth 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPR2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPR2 human_phenotype_ontology_hp_0001434_human_phenotype_ontology_hp_0001510_human_phenotype_ontology_hp_0001512_human_phenotype_ontology_hp_0001514_human_phenotype_ontology_hp_0001517_human_phenotype_ontology_hp_0001532_human_phenotype_ontology_hp_0008847_human_phenotype_ontology_hp_0008870_human_phenotype_ontology_hp_0008886_human_phenotype_ontology_hp_0008893_human_phenotype_ontology_hp_0008926_medgen_c0456070 Growth delay Human_Phenotype_Ontology:HP:0001434,Human_Phenotype_Ontology:HP:0001510,Human_Phenotype_Ontology:HP:0001512,Human_Phenotype_Ontology:HP:0001514,Human_Phenotype_Ontology:HP:0001517,Human_Phenotype_Ontology:HP:0001532,Human_Phenotype_Ontology:HP:0008847,Human_Phenotype_Ontology:HP:0008870,Human_Phenotype_Ontology:HP:0008886,Human_Phenotype_Ontology:HP:0008893,Human_Phenotype_Ontology:HP:0008926,MedGen:C0456070 2 2 1.0000 condition_record_support_limited 20 0 2 Growth_delay 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPR2 human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 2 2 1.0000 condition_record_support_limited 20 0 2 Craniosynostosis_syndrome 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHS2 human_phenotype_ontology_hp_0012593_medgen_c0445118 Nephrotic range proteinuria Human_Phenotype_Ontology:HP:0012593,MedGen:C0445118 2 2 1.0000 condition_record_support_limited 20 0 2 Nephrotic_range_proteinuria 158 compact_adjacent_exon_block_opportunity local_compact_architecture NPHS2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 158 compact_adjacent_exon_block_opportunity local_compact_architecture NPHS2 human_phenotype_ontology_hp_0000106_human_phenotype_ontology_hp_0001918_human_phenotype_ontology_hp_0008671_human_phenotype_ontology_hp_0012622_mondo_mondo_0005300_medgen_c1561643 Chronic kidney disease Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643 2 2 1.0000 condition_record_support_limited 20 0 2 Chronic_kidney_disease 158 compact_adjacent_exon_block_opportunity local_compact_architecture NPHS1 human_phenotype_ontology_hp_0000112_mondo_mondo_0005240_medgen_c0022658 Kidney disorder Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658 2 2 1.0000 condition_record_support_limited 20 0 2 Kidney_disorder 468 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 468 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP4 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP4 human_phenotype_ontology_hp_0000112_mondo_mondo_0005240_medgen_c0022658 Kidney disorder Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658 2 2 1.0000 condition_record_support_limited 20 0 2 Kidney_disorder 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP4 autosomal_recessive_nphp4_related_disorders Autosomal recessive NPHP4-related disorders . 2 2 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_NPHP4-related_disorders 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP3 mondo_mondo_0017417_medgen_c2673883_omim_ps208540_orphanet_294415 Renal-hepatic-pancreatic dysplasia MONDO:MONDO:0017417,MedGen:C2673883,OMIM:PS208540,Orphanet:294415 2 2 1.0000 condition_record_support_limited 20 0 0 Renal-hepatic-pancreatic_dysplasia 161 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP3 human_phenotype_ontology_hp_0005562_medgen_c0431718 Multiple renal cysts Human_Phenotype_Ontology:HP:0005562,MedGen:C0431718 2 2 1.0000 condition_record_support_limited 20 0 2 Multiple_renal_cysts 161 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP3 human_phenotype_ontology_hp_0000105_medgen_c0542518 Enlarged kidney Human_Phenotype_Ontology:HP:0000105,MedGen:C0542518 2 2 1.0000 condition_record_support_limited 20 0 2 Enlarged_kidney 161 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP3 human_phenotype_ontology_hp_0025700_medgen_c0730379 Anhydramnios Human_Phenotype_Ontology:HP:0025700,MedGen:C0730379 2 2 1.0000 condition_record_support_limited 20 0 2 Anhydramnios 161 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPC2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 59 compact_adjacent_exon_block_opportunity local_compact_architecture NPC1 human_phenotype_ontology_hp_0011098_medgen_c0264611 Speech apraxia Human_Phenotype_Ontology:HP:0011098,MedGen:C0264611 2 2 1.0000 condition_record_support_limited 20 0 2 Speech_apraxia 634 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPC1 human_phenotype_ontology_hp_0002172_medgen_c1843921 Postural instability Human_Phenotype_Ontology:HP:0002172,MedGen:C1843921 2 2 1.0000 condition_record_support_limited 20 0 2 Postural_instability 634 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPC1 medgen_c4017105 Niemann-Pick disease, type C1, adult form MedGen:C4017105 2 2 1.0000 condition_record_support_limited 20 0 1 Niemann-Pick_disease,_type_C1,_adult_form 634 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPC1 mondo_mondo_0009756_medgen_c0268242_omim_257200_orphanet_77292 Niemann-Pick disease, type A MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292 2 2 1.0000 condition_record_support_limited 20 0 0 Niemann-Pick_disease,_type_A 634 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPC1 human_phenotype_ontology_hp_0000266_human_phenotype_ontology_hp_0001354_human_phenotype_ontology_hp_0002315_medgen_c0018681 Headache Human_Phenotype_Ontology:HP:0000266,Human_Phenotype_Ontology:HP:0001354,Human_Phenotype_Ontology:HP:0002315,MedGen:C0018681 2 2 1.0000 condition_record_support_limited 20 0 2 Headache 634 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPC1 human_phenotype_ontology_hp_0002128_human_phenotype_ontology_hp_0002129_human_phenotype_ontology_hp_0002302_human_phenotype_ontology_hp_0002337_human_phenotype_ontology_hp_0002441_human_phenotype_ontology_hp_0006972_human_phenotype_ontology_hp_0006998_human_phenotype_ontology_hp_0007211_human_phenotype_ontology_hp_0100543_medgen_c0338656 Cognitive impairment Human_Phenotype_Ontology:HP:0002128,Human_Phenotype_Ontology:HP:0002129,Human_Phenotype_Ontology:HP:0002302,Human_Phenotype_Ontology:HP:0002337,Human_Phenotype_Ontology:HP:0002441,Human_Phenotype_Ontology:HP:0006972,Human_Phenotype_Ontology:HP:0006998,Human_Phenotype_Ontology:HP:0007211,Human_Phenotype_Ontology:HP:0100543,MedGen:C0338656 2 2 1.0000 condition_record_support_limited 20 0 2 Cognitive_impairment 634 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPC1 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 2 2 1.0000 condition_record_support_limited 20 0 2 Cerebellar_ataxia 634 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPC1 human_phenotype_ontology_hp_0002428_human_phenotype_ontology_hp_0002524_human_phenotype_ontology_hp_0002525_medgen_c0007384 Cataplexy Human_Phenotype_Ontology:HP:0002428,Human_Phenotype_Ontology:HP:0002524,Human_Phenotype_Ontology:HP:0002525,MedGen:C0007384 2 2 1.0000 condition_record_support_limited 20 0 2 Cataplexy 634 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPC1 human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 2 2 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 634 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NOVA2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene NOTCH3 human_phenotype_ontology_hp_0002326_mondo_mondo_0005264_medgen_c0007787 Transient ischemic attack Human_Phenotype_Ontology:HP:0002326,MONDO:MONDO:0005264,MedGen:C0007787 2 2 1.0000 condition_record_support_limited 20 0 2 Transient_ischemic_attack 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH3 mondo_mondo_0008436_medgen_c0282492_omim_182410_orphanet_820 Sneddon syndrome MONDO:MONDO:0008436,MedGen:C0282492,OMIM:182410,Orphanet:820 2 2 1.0000 condition_record_support_limited 20 0 2 Sneddon_syndrome 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH3 human_phenotype_ontology_hp_0002076_human_phenotype_ontology_hp_0007194_mondo_mondo_0005277_medgen_c0149931 Migraine Human_Phenotype_Ontology:HP:0002076,Human_Phenotype_Ontology:HP:0007194,MONDO:MONDO:0005277,MedGen:C0149931 2 2 1.0000 condition_record_support_limited 20 0 2 Migraine 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH3 leukodystrophy_adult_onset Leukodystrophy, Adult-Onset MedGen:CN239186 2 2 1.0000 condition_record_support_limited 20 0 1 Leukodystrophy,_Adult-Onset 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH3 human_phenotype_ontology_hp_0002140_mondo_mondo_1060198_medgen_c0948008_omim_601367 Ischemic stroke Human_Phenotype_Ontology:HP:0002140,MONDO:MONDO:1060198,MedGen:C0948008,OMIM:601367 2 2 1.0000 condition_record_support_limited 20 0 2 Ischemic_stroke 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH3 human_phenotype_ontology_hp_0000716_mondo_mondo_0002050_mesh_d003866_medgen_c0011581 Depression Human_Phenotype_Ontology:HP:0000716,MONDO:MONDO:0002050,MeSH:D003866,MedGen:C0011581 2 2 1.0000 condition_record_support_limited 20 0 2 Depression 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH3 mondo_mondo_0021944_medgen_c1852271_omim_ps609129 Auditory neuropathy MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 2 2 1.0000 condition_record_support_limited 20 0 1 Auditory_neuropathy 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH3 human_phenotype_ontology_hp_0002500_human_phenotype_ontology_hp_0200100_medgen_c0948163 Abnormal cerebral white matter morphology Human_Phenotype_Ontology:HP:0002500,Human_Phenotype_Ontology:HP:0200100,MedGen:C0948163 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_cerebral_white_matter_morphology 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH1 human_phenotype_ontology_hp_0031525_mondo_mondo_0002527_mesh_d007636_medgen_c0022572 Keratoacanthoma Human_Phenotype_Ontology:HP:0031525,MONDO:MONDO:0002527,MeSH:D007636,MedGen:C0022572 2 2 1.0000 condition_record_support_limited 20 0 0 Keratoacanthoma 163 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH1 ka_like_vemurafenib_induced_squamous_lesions KA-like vemurafenib-induced squamous lesions . 2 2 1.0000 condition_record_support_limited 20 0 1 KA-like_vemurafenib-induced_squamous_lesions 163 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOS3 mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 2 2 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 2 low_record_burden_interpretation_limited low_record_burden_gene NOS1AP mondo_mondo_0030895_medgen_c5436909_omim_619155 Nephrotic syndrome, type 22 MONDO:MONDO:0030895,MedGen:C5436909,OMIM:619155 2 2 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome,_type_22 2 low_record_burden_interpretation_limited low_record_burden_gene NONO mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NOC3L condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene NNT mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NNT glucocorticoid_deficiency_4_with_mineralocorticoid_deficiency GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY . 2 2 1.0000 condition_record_support_limited 20 0 1 GLUCOCORTICOID_DEFICIENCY_4_WITH_MINERALOCORTICOID_DEFICIENCY 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NMNAT1 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_disorder 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NMNAT1 nmnat1_related_disorder NMNAT1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 NMNAT1-related_disorder 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NMNAT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NMNAT1 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 2 2 1.0000 condition_record_support_limited 20 0 2 Cone-rod_dystrophy 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NME5 mondo_mondo_0031054_medgen_c5774214_omim_620032 Ciliary dyskinesia, primary, 48, without situs inversus MONDO:MONDO:0031054,MedGen:C5774214,OMIM:620032 2 2 1.0000 condition_record_support_limited 20 0 0 Ciliary_dyskinesia,_primary,_48,_without_situs_inversus 2 low_record_burden_interpretation_limited low_record_burden_gene NLRP7 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NLRP7 human_phenotype_ontology_hp_0032192_mondo_mondo_0006248_medgen_c0020217_omim_ps231090_orphanet_99927 Hydatidiform mole Human_Phenotype_Ontology:HP:0032192,MONDO:MONDO:0006248,MedGen:C0020217,OMIM:PS231090,Orphanet:99927 2 2 1.0000 condition_record_support_limited 20 0 1 Hydatidiform_mole 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NLRP5 mondo_mondo_0014769_medgen_cn238505_omim_ps615774 Inherited oocyte maturation defect MONDO:MONDO:0014769,MedGen:CN238505,OMIM:PS615774 2 2 1.0000 condition_record_support_limited 20 0 2 Inherited_oocyte_maturation_defect 12 low_record_burden_interpretation_limited low_record_burden_gene NLRP3 nlrp3_related_disorder NLRP3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 NLRP3-related_disorder 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NLRC4 mondo_mondo_0019751_medgen_c3890737_orphanet_93665 Autoinflammatory syndrome MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 2 2 1.0000 condition_record_support_limited 20 0 0 Autoinflammatory_syndrome 14 low_record_burden_interpretation_limited low_record_burden_gene NLGN4X mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 9 low_record_burden_interpretation_limited low_record_burden_gene NLGN3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 12 low_record_burden_interpretation_limited low_record_burden_gene NLGN3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 12 low_record_burden_interpretation_limited low_record_burden_gene NKX2-5 mondo_mondo_0800441_medgen_cn372093 NKX2.5-related congenital, conduction and myopathic heart disease MONDO:MONDO:0800441,MedGen:CN372093 2 2 1.0000 condition_record_support_limited 20 0 0 NKX2.5-related_congenital,_conduction_and_myopathic_heart_disease 125 compact_adjacent_exon_block_opportunity local_compact_architecture NKX2-5 nkx2_5_related_disorder NKX2-5-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 NKX2-5-related_disorder 125 compact_adjacent_exon_block_opportunity local_compact_architecture NKX2-5 malformation_of_the_heart_and_great_vessels Malformation of the heart and great vessels MedGen:CN221285 2 2 1.0000 condition_record_support_limited 20 0 1 Malformation_of_the_heart_and_great_vessels 125 compact_adjacent_exon_block_opportunity local_compact_architecture NKX2-5 mondo_mondo_0009154_medgen_c2673630_omim_225250_orphanet_95712 Hypothyroidism, congenital, nongoitrous, 5 MONDO:MONDO:0009154,MedGen:C2673630,OMIM:225250,Orphanet:95712 2 2 1.0000 condition_record_support_limited 20 0 1 Hypothyroidism,_congenital,_nongoitrous,_5 125 compact_adjacent_exon_block_opportunity local_compact_architecture NKX2-5 mondo_mondo_0013752_medgen_c3280795_omim_614435_orphanet_2248 Hypoplastic left heart syndrome 2 MONDO:MONDO:0013752,MedGen:C3280795,OMIM:614435,Orphanet:2248 2 2 1.0000 condition_record_support_limited 20 0 1 Hypoplastic_left_heart_syndrome_2 125 compact_adjacent_exon_block_opportunity local_compact_architecture NKX2-5 human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 2 2 1.0000 condition_record_support_limited 20 0 0 Heart,_malformation_of 125 compact_adjacent_exon_block_opportunity local_compact_architecture NKX2-5 medgen_c1833590 Atrioventricular septal defect, somatic MedGen:C1833590 2 2 1.0000 condition_record_support_limited 20 0 1 Atrioventricular_septal_defect,_somatic 125 compact_adjacent_exon_block_opportunity local_compact_architecture NKAP mondo_mondo_0026733_medgen_c5393302_omim_301039_orphanet_700325 Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type MONDO:MONDO:0026733,MedGen:C5393302,OMIM:301039,Orphanet:700325 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder,_X-linked,_syndromic,_Hackmann-Di_Donato_type 3 low_record_burden_interpretation_limited low_record_burden_gene NICN1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene NHS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 76 compact_adjacent_exon_block_opportunity local_compact_architecture NHS human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 2 2 1.0000 condition_record_support_limited 20 0 0 Developmental_cataract 76 compact_adjacent_exon_block_opportunity local_compact_architecture NHLRC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 49 single_exon_hotspot_opportunity local_compact_architecture NGLY1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NGLY1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NGLY1 mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 2 2 1.0000 condition_record_support_limited 20 0 1 Epilepsy 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIX marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 2 2 1.0000 condition_record_support_limited 20 0 2 Marfanoid_habitus_and_intellectual_disability 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFASC condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene NF2 nf2_related_disorder NF2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 NF2-related_disorder 285 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF2 human_phenotype_ontology_hp_0002858_human_phenotype_ontology_hp_0006754_mondo_mondo_0016642_medgen_c0025286_orphanet_2495 Meningioma Human_Phenotype_Ontology:HP:0002858,Human_Phenotype_Ontology:HP:0006754,MONDO:MONDO:0016642,MedGen:C0025286,Orphanet:2495 2 2 1.0000 condition_record_support_limited 20 0 1 Meningioma 285 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF2 human_phenotype_ontology_hp_0009588_mondo_mondo_0001569_medgen_c0027859_orphanet_252175 Acoustic neuroma Human_Phenotype_Ontology:HP:0009588,MONDO:MONDO:0001569,MedGen:C0027859,Orphanet:252175 2 2 1.0000 condition_record_support_limited 20 0 1 Acoustic_neuroma 285 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0009737_medgen_c1860334 Lisch nodules Human_Phenotype_Ontology:HP:0009737,MedGen:C1860334 2 2 1.0000 condition_record_support_limited 20 0 2 Lisch_nodules 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 2 2 1.0000 condition_record_support_limited 20 0 2 Hereditary_breast_ovarian_cancer_syndrome 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0012254_mondo_mondo_0012817_medgen_c0553580_omim_612219_orphanet_2677_orphanet_319 Ewing sarcoma Human_Phenotype_Ontology:HP:0012254,MONDO:MONDO:0012817,MedGen:C0553580,OMIM:612219,Orphanet:2677,Orphanet:319 2 2 1.0000 condition_record_support_limited 20 0 2 Ewing_sarcoma 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 mondo_mondo_0013357_medgen_c5401456_omim_613675_orphanet_139474_orphanet_636_orphanet_97685 Chromosome 17q11.2 deletion syndrome, 1.4Mb MONDO:MONDO:0013357,MedGen:C5401456,OMIM:613675,Orphanet:139474,Orphanet:636,Orphanet:97685 2 2 1.0000 condition_record_support_limited 20 0 2 Chromosome_17q11.2_deletion_syndrome,_1.4Mb 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NEXMIF nexmif_related_disorder NEXMIF-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 NEXMIF-related_disorder 218 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEUROD1 mondo_mondo_0011668_medgen_c1853371_omim_606394_orphanet_552 Maturity-onset diabetes of the young type 6 MONDO:MONDO:0011668,MedGen:C1853371,OMIM:606394,Orphanet:552 2 2 1.0000 condition_record_support_limited 20 0 0 Maturity-onset_diabetes_of_the_young_type_6 5 low_record_burden_interpretation_limited low_record_burden_gene NEU1 human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 2 2 1.0000 condition_record_support_limited 20 0 2 Non-immune_hydrops_fetalis 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEU1 neu1_related_disorder NEU1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 NEU1-related_disorder 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEMF mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEK9 human_phenotype_ontology_hp_0020154_mondo_mondo_0014873_medgen_c0265987_omim_617025_orphanet_64754 Nevus comedonicus syndrome Human_Phenotype_Ontology:HP:0020154,MONDO:MONDO:0014873,MedGen:C0265987,OMIM:617025,Orphanet:64754 2 2 1.0000 condition_record_support_limited 20 0 0 Nevus_comedonicus_syndrome 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEK9 mondo_mondo_0012280_medgen_c1836123_omim_609460_orphanet_66629 Goldberg-Shprintzen syndrome MONDO:MONDO:0012280,MedGen:C1836123,OMIM:609460,Orphanet:66629 2 2 1.0000 condition_record_support_limited 20 0 0 Goldberg-Shprintzen_syndrome 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEK1 mondo_mondo_0009642_medgen_c0026363_omim_252100_orphanet_2751 Mohr syndrome MONDO:MONDO:0009642,MedGen:C0026363,OMIM:252100,Orphanet:2751 2 2 1.0000 condition_record_support_limited 20 0 1 Mohr_syndrome 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEK1 mondo_mondo_0013127_medgen_c0036069_omim_613091_orphanet_474_orphanet_93269_orphanet_93270_orphanet_93271 Asphyxiating thoracic dystrophy 3 MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271 2 2 1.0000 condition_record_support_limited 20 0 2 Asphyxiating_thoracic_dystrophy_3 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEB mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 Congenital myopathy MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_myopathy 1871 large_gene_or_donor_burden_stress_case donor_burden_stress NDUFV2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 17 low_record_burden_interpretation_limited low_record_burden_gene NDUFS8 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 2 2 1.0000 condition_record_support_limited 20 0 2 Leigh_syndrome 18 low_record_burden_interpretation_limited low_record_burden_gene NDUFS4 mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 Mitochondrial complex I deficiency MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 2 2 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_complex_I_deficiency 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFS4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFS3 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 9 low_record_burden_interpretation_limited low_record_burden_gene NDUFS3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 9 low_record_burden_interpretation_limited low_record_burden_gene NDUFS2 mondo_mondo_0032611_medgen_c4748759_omim_618228 Mitochondrial complex I deficiency, nuclear type 6 MONDO:MONDO:0032611,MedGen:C4748759,OMIM:618228 2 2 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency,_nuclear_type_6 13 low_record_burden_interpretation_limited low_record_burden_gene NDUFS1 ndufs1_related_disorder NDUFS1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 NDUFS1-related_disorder 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFS1 mondo_mondo_0100224_medgen_cn257533_omim_252010 Mitochondrial complex I deficiency, nuclear type 1 MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 2 2 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency,_nuclear_type_1 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFC2 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_disease 2 low_record_burden_interpretation_limited low_record_burden_gene NDUFC2 mondo_mondo_0030902_medgen_c5436935_omim_619170 Mitochondrial complex I deficiency, nuclear type 36 MONDO:MONDO:0030902,MedGen:C5436935,OMIM:619170 2 2 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_complex_I_deficiency,_nuclear_type_36 2 low_record_burden_interpretation_limited low_record_burden_gene NDUFB3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene NDUFB3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 5 low_record_burden_interpretation_limited low_record_burden_gene NDUFAF7 condition_not_provided condition not provided MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene NDUFAF6 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 2 2 1.0000 condition_record_support_limited 20 0 1 Leigh_syndrome 34 compact_adjacent_exon_block_opportunity local_compact_architecture NDUFAF6 mondo_mondo_0030056_medgen_c5394473_omim_618913 Fanconi renotubular syndrome 5 MONDO:MONDO:0030056,MedGen:C5394473,OMIM:618913 2 2 1.0000 condition_record_support_limited 20 0 2 Fanconi_renotubular_syndrome_5 34 compact_adjacent_exon_block_opportunity local_compact_architecture NDUFAF5 ndufaf5_related_disorder NDUFAF5-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 NDUFAF5-related_disorder 117 compact_adjacent_exon_block_opportunity local_compact_architecture NDUFAF3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene NDUFAF2 mondo_mondo_0100224_medgen_cn257533_omim_252010 Mitochondrial complex I deficiency, nuclear type 1 MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 2 2 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_complex_I_deficiency,_nuclear_type_1 23 compact_adjacent_exon_block_opportunity local_compact_architecture NDUFA1 mondo_mondo_0026720_medgen_c4746984_omim_301020 Mitochondrial complex I deficiency, nuclear type 12 MONDO:MONDO:0026720,MedGen:C4746984,OMIM:301020 2 2 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_I_deficiency,_nuclear_type_12 3 low_record_burden_interpretation_limited low_record_burden_gene NDE1 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCR3 medgen_c1970029 Malaria, severe, susceptibility to MedGen:C1970029 2 2 1.0000 condition_record_support_limited 20 0 1 Malaria,_severe,_susceptibility_to 2 low_record_burden_interpretation_limited low_record_burden_gene NCKAP1L condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene NCKAP1 nckap1_associated_neurodevelopmental_disorder NCKAP1-associated Neurodevelopmental disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 NCKAP1-associated_Neurodevelopmental_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCKAP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCKAP1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCKAP1 human_phenotype_ontology_hp_0000729_medgen_c0856975 Autistic behavior Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 2 2 1.0000 condition_record_support_limited 20 0 1 Autistic_behavior 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCDN condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene NCAPH2 sco2_related_disorder SCO2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SCO2-related_disorder 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCAPH mondo_mondo_0054806_medgen_c4693843_omim_617985 Microcephaly 23, primary, autosomal recessive MONDO:MONDO:0054806,MedGen:C4693843,OMIM:617985 2 2 1.0000 condition_record_support_limited 20 0 0 Microcephaly_23,_primary,_autosomal_recessive 2 low_record_burden_interpretation_limited low_record_burden_gene NBN human_phenotype_ontology_hp_0025318_mondo_mondo_0005140_medgen_c4721610 Ovarian carcinoma Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610 2 2 1.0000 condition_record_support_limited 20 0 2 Ovarian_carcinoma 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NBN mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 1 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 2 2 1.0000 condition_record_support_limited 20 0 2 Breast-ovarian_cancer,_familial,_susceptibility_to,_1 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NBEA nbea_related_disorder NBEA-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 NBEA-related_disorder 81 large_gene_or_donor_burden_stress_case donor_burden_stress NBEA human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 81 large_gene_or_donor_burden_stress_case donor_burden_stress NBAS human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_disorder 245 large_gene_or_donor_burden_stress_case donor_burden_stress NBAS monogenic_short_statue Monogenic short statue . 2 2 1.0000 condition_record_support_limited 20 0 1 Monogenic_short_statue 245 large_gene_or_donor_burden_stress_case donor_burden_stress NALF1 mondo_mondo_0700269_medgen_cn377758 BRCA2-related cancer predisposition MONDO:MONDO:0700269,MedGen:CN377758 2 2 1.0000 condition_record_support_limited 20 0 0 BRCA2-related_cancer_predisposition 3 low_record_burden_interpretation_limited low_record_burden_gene NAGLU human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 2 2 1.0000 condition_record_support_limited 20 0 2 Tip-toe_gait 295 compact_adjacent_exon_block_opportunity local_compact_architecture NAGLU human_phenotype_ontology_hp_0000574_human_phenotype_ontology_hp_0004546_medgen_c1853487 Thick eyebrow Human_Phenotype_Ontology:HP:0000574,Human_Phenotype_Ontology:HP:0004546,MedGen:C1853487 2 2 1.0000 condition_record_support_limited 20 0 2 Thick_eyebrow 295 compact_adjacent_exon_block_opportunity local_compact_architecture NAGLU human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 2 2 1.0000 condition_record_support_limited 20 0 2 Severe_intellectual_disability 295 compact_adjacent_exon_block_opportunity local_compact_architecture NAGLU mondo_mondo_0018937_medgen_c0026706_orphanet_581 Sanfilippo syndrome MONDO:MONDO:0018937,MedGen:C0026706,Orphanet:581 2 2 1.0000 condition_record_support_limited 20 0 2 Sanfilippo_syndrome 295 compact_adjacent_exon_block_opportunity local_compact_architecture NAGLU human_phenotype_ontology_hp_0003567_human_phenotype_ontology_hp_0008155_medgen_c4024726 Mucopolysacchariduria Human_Phenotype_Ontology:HP:0003567,Human_Phenotype_Ontology:HP:0008155,MedGen:C4024726 2 2 1.0000 condition_record_support_limited 20 0 2 Mucopolysacchariduria 295 compact_adjacent_exon_block_opportunity local_compact_architecture NAGLU human_phenotype_ontology_hp_0000998_mondo_mondo_0019280_medgen_c0020555_orphanet_79365 Hypertrichosis Human_Phenotype_Ontology:HP:0000998,MONDO:MONDO:0019280,MedGen:C0020555,Orphanet:79365 2 2 1.0000 condition_record_support_limited 20 0 2 Hypertrichosis 295 compact_adjacent_exon_block_opportunity local_compact_architecture NAGLU human_phenotype_ontology_hp_0001433_medgen_c0019214 Hepatosplenomegaly Human_Phenotype_Ontology:HP:0001433,MedGen:C0019214 2 2 1.0000 condition_record_support_limited 20 0 2 Hepatosplenomegaly 295 compact_adjacent_exon_block_opportunity local_compact_architecture NAGLU human_phenotype_ontology_hp_0000280_human_phenotype_ontology_hp_0000281_human_phenotype_ontology_hp_0004640_medgen_c1845847 Coarse facial features Human_Phenotype_Ontology:HP:0000280,Human_Phenotype_Ontology:HP:0000281,Human_Phenotype_Ontology:HP:0004640,MedGen:C1845847 2 2 1.0000 condition_record_support_limited 20 0 2 Coarse_facial_features 295 compact_adjacent_exon_block_opportunity local_compact_architecture NAGLU human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_facial_shape 295 compact_adjacent_exon_block_opportunity local_compact_architecture NAF1 mondo_mondo_0957261_medgen_c5830485_omim_620365 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 MONDO:MONDO:0957261,MedGen:C5830485,OMIM:620365 2 2 1.0000 condition_record_support_limited 20 0 0 Pulmonary_fibrosis_and/or_bone_marrow_failure_syndrome,_telomere-related,_7 5 low_record_burden_interpretation_limited low_record_burden_gene NADSYN1 nadsyn1_related_disorder NADSYN1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 NADSYN1-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene NADK2 mondo_mondo_0014464_medgen_c1857252_omim_616034_orphanet_431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency MONDO:MONDO:0014464,MedGen:C1857252,OMIM:616034,Orphanet:431361 2 2 1.0000 condition_record_support_limited 20 0 0 Progressive_encephalopathy_with_leukodystrophy_due_to_DECR_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene NACC1 mondo_mondo_0044306_medgen_c4479333_omim_617393_orphanet_500545 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination MONDO:MONDO:0044306,MedGen:C4479333,OMIM:617393,Orphanet:500545 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_epilepsy,_cataracts,_feeding_difficulties,_and_delayed_brain_myelination 6 low_record_burden_interpretation_limited low_record_burden_gene NACC1 nacc1_related_disorder NACC1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 NACC1-related_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene NAA20 mondo_mondo_0030533_medgen_c5676902_omim_619717 Intellectual developmental disorder, autosomal recessive 73 MONDO:MONDO:0030533,MedGen:C5676902,OMIM:619717 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder,_autosomal_recessive_73 2 low_record_burden_interpretation_limited low_record_burden_gene NAA15 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAA10 naa10_related_disorder NAA10-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 NAA10-related_disorder 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAA10 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MZT2A mondo_mondo_0054771_medgen_c4693660_omim_617928 Keratoconus 9 MONDO:MONDO:0054771,MedGen:C4693660,OMIM:617928 2 2 1.0000 condition_record_support_limited 20 0 0 Keratoconus_9 2 low_record_burden_interpretation_limited low_record_burden_gene MYT1L mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYT1L human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYT1L myt1l_related_disorder MYT1L-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 MYT1L-related_disorder 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYRF mondo_mondo_0002145_medgen_c2930619_orphanet_90771 Disorder of sexual differentiation MONDO:MONDO:0002145,MedGen:C2930619,Orphanet:90771 2 2 1.0000 condition_record_support_limited 20 0 1 Disorder_of_sexual_differentiation 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYOCD human_phenotype_ontology_hp_0004392_mondo_mondo_0007032_medgen_c0033770_omim_100100_orphanet_2970 Prune belly syndrome Human_Phenotype_Ontology:HP:0004392,MONDO:MONDO:0007032,MedGen:C0033770,OMIM:100100,Orphanet:2970 2 2 1.0000 condition_record_support_limited 20 0 2 Prune_belly_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene MYO9A mondo_mondo_0032597_medgen_c4748684_omim_618198 Myasthenic syndrome, congenital, 24, presynaptic MONDO:MONDO:0032597,MedGen:C4748684,OMIM:618198 2 2 1.0000 condition_record_support_limited 20 0 0 Myasthenic_syndrome,_congenital,_24,_presynaptic 2 low_record_burden_interpretation_limited low_record_burden_gene MYO7A medgen_c3887873 Hearing loss MedGen:C3887873 2 2 1.0000 condition_record_support_limited 20 0 2 Hearing_loss 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO7A human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO7A mondo_mondo_0021944_medgen_c1852271_omim_ps609129 Auditory neuropathy MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 2 2 1.0000 condition_record_support_limited 20 0 0 Auditory_neuropathy 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO5A condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene MYO18B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 140 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO15A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 714 large_gene_or_donor_burden_stress_case donor_burden_stress MYO15A human_phenotype_ontology_hp_0004455_human_phenotype_ontology_hp_0004457_human_phenotype_ontology_hp_0008520_human_phenotype_ontology_hp_0008521_human_phenotype_ontology_hp_0008527_human_phenotype_ontology_hp_0008540_human_phenotype_ontology_hp_0008543_human_phenotype_ontology_hp_0008545_human_phenotype_ontology_hp_0008546_human_phenotype_ontology_hp_0008556_human_phenotype_ontology_hp_0008558_human_phenotype_ontology_hp_0008561_human_phenotype_ontology_hp_0008571_human_phenotype_ontology_hp_0008603_human_phenotype_ontology_hp_0008612_human_phenotype_ontology_hp_0008620_medgen_c1865866 Congenital sensorineural hearing impairment Human_Phenotype_Ontology:HP:0004455,Human_Phenotype_Ontology:HP:0004457,Human_Phenotype_Ontology:HP:0008520,Human_Phenotype_Ontology:HP:0008521,Human_Phenotype_Ontology:HP:0008527,Human_Phenotype_Ontology:HP:0008540,Human_Phenotype_Ontology:HP:0008543,Human_Phenotype_Ontology:HP:0008545,Human_Phenotype_Ontology:HP:0008546,Human_Phenotype_Ontology:HP:0008556,Human_Phenotype_Ontology:HP:0008558,Human_Phenotype_Ontology:HP:0008561,Human_Phenotype_Ontology:HP:0008571,Human_Phenotype_Ontology:HP:0008603,Human_Phenotype_Ontology:HP:0008612,Human_Phenotype_Ontology:HP:0008620,MedGen:C1865866 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_sensorineural_hearing_impairment 714 large_gene_or_donor_burden_stress_case donor_burden_stress MYMK condition_not_provided condition not provided .|MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 See_cases|not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene MYLK mondo_mondo_0020754_medgen_c5542197_omim_155310_orphanet_2604 Visceral myopathy 1 MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604 2 2 1.0000 condition_record_support_limited 20 0 2 Visceral_myopathy_1 73 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYL3 mondo_mondo_0012111_medgen_c1837471_omim_608751 Hypertrophic cardiomyopathy 8 MONDO:MONDO:0012111,MedGen:C1837471,OMIM:608751 2 2 1.0000 condition_record_support_limited 20 0 2 Hypertrophic_cardiomyopathy_8 5 low_record_burden_interpretation_limited low_record_burden_gene MYL3 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 2 2 1.0000 condition_record_support_limited 20 0 2 Cardiovascular_phenotype 5 low_record_burden_interpretation_limited low_record_burden_gene MYH9 human_phenotype_ontology_hp_0040185_medgen_c2751260 Macrothrombocytopenia Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260 2 2 1.0000 condition_record_support_limited 20 0 1 Macrothrombocytopenia 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH9 human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_bleeding 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH8 mondo_mondo_0008016_medgen_c0265226_omim_158300_orphanet_3377 Hecht syndrome MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300,Orphanet:3377 2 2 1.0000 condition_record_support_limited 20 0 1 Hecht_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene MYH7B myh7b_related_hypertrophic_cardiomyopathy MYH7B-related hypertrophic cardiomyopathy . 2 2 1.0000 condition_record_support_limited 20 0 0 MYH7B-related_hypertrophic_cardiomyopathy 12 low_record_burden_interpretation_limited low_record_burden_gene MYH7 mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 Primary familial dilated cardiomyopathy MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 2 2 1.0000 condition_record_support_limited 20 0 2 Primary_familial_dilated_cardiomyopathy 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH7 mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 Arrhythmogenic right ventricular cardiomyopathy MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 2 2 1.0000 condition_record_support_limited 20 0 1 Arrhythmogenic_right_ventricular_cardiomyopathy 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH6 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene MYH6 myh6_related_disorder MYH6-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 MYH6-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene MYH6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 15 low_record_burden_interpretation_limited low_record_burden_gene MYH6 mondo_mondo_0013198_medgen_c2750466_omim_613252_orphanet_154 Dilated cardiomyopathy 1EE MONDO:MONDO:0013198,MedGen:C2750466,OMIM:613252,Orphanet:154 2 2 1.0000 condition_record_support_limited 20 0 1 Dilated_cardiomyopathy_1EE 15 low_record_burden_interpretation_limited low_record_burden_gene MYH6 mondo_mondo_0013567_medgen_c3279790_omim_614089_orphanet_1478 Atrial septal defect 3 MONDO:MONDO:0013567,MedGen:C3279790,OMIM:614089,Orphanet:1478 2 2 1.0000 condition_record_support_limited 20 0 1 Atrial_septal_defect_3 15 low_record_burden_interpretation_limited low_record_burden_gene MYH3 human_phenotype_ontology_hp_0005684_mondo_mondo_0019942_medgen_c0265213_omim_ps108120_orphanet_97120 Distal arthrogryposis Human_Phenotype_Ontology:HP:0005684,MONDO:MONDO:0019942,MedGen:C0265213,OMIM:PS108120,Orphanet:97120 2 2 1.0000 condition_record_support_limited 20 0 0 Distal_arthrogryposis 124 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH2 human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 2 2 1.0000 condition_record_support_limited 20 0 0 Myopathy 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH14 myh14_related_disorder MYH14-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 MYH14-related_disorder 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH10 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 13 low_record_burden_interpretation_limited low_record_burden_gene MYF5 human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 2 2 1.0000 condition_record_support_limited 20 0 2 Scoliosis 2 low_record_burden_interpretation_limited low_record_burden_gene MYF5 mondo_mondo_0032565_medgen_c4748418_omim_618155 Ophthalmoplegia, external, with rib and vertebral anomalies MONDO:MONDO:0032565,MedGen:C4748418,OMIM:618155 2 2 1.0000 condition_record_support_limited 20 0 2 Ophthalmoplegia,_external,_with_rib_and_vertebral_anomalies 2 low_record_burden_interpretation_limited low_record_burden_gene MYF5 human_phenotype_ontology_hp_0000544_human_phenotype_ontology_hp_0007762_medgen_c0162292 External ophthalmoplegia Human_Phenotype_Ontology:HP:0000544,Human_Phenotype_Ontology:HP:0007762,MedGen:C0162292 2 2 1.0000 condition_record_support_limited 20 0 2 External_ophthalmoplegia 2 low_record_burden_interpretation_limited low_record_burden_gene MYF5 human_phenotype_ontology_hp_0000772_human_phenotype_ontology_hp_0006618_medgen_c1842083 Abnormal rib morphology Human_Phenotype_Ontology:HP:0000772,Human_Phenotype_Ontology:HP:0006618,MedGen:C1842083 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_rib_morphology 2 low_record_burden_interpretation_limited low_record_burden_gene MYCN mondo_mondo_0015267_medgen_c0796068_omim_ps164280_orphanet_1305 Feingold syndrome MONDO:MONDO:0015267,MedGen:C0796068,OMIM:PS164280,Orphanet:1305 2 2 1.0000 condition_record_support_limited 20 0 2 Feingold_syndrome 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 2 2 1.0000 condition_record_support_limited 20 0 0 Primary_dilated_cardiomyopathy 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_disease 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 human_phenotype_ontology_hp_0011664_medgen_c4021133 Left ventricular noncompaction cardiomyopathy Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 2 2 1.0000 condition_record_support_limited 20 0 2 Left_ventricular_noncompaction_cardiomyopathy 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 mondo_mondo_0011403_medgen_c1858725_omim_604169_orphanet_54260 Left ventricular noncompaction 1 MONDO:MONDO:0011403,MedGen:C1858725,OMIM:604169,Orphanet:54260 2 2 1.0000 condition_record_support_limited 20 0 2 Left_ventricular_noncompaction_1 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 human_phenotype_ontology_hp_0030682_mondo_mondo_0018901_medgen_c1960469_omim_ps604169_orphanet_54260 Left ventricular noncompaction Human_Phenotype_Ontology:HP:0030682,MONDO:MONDO:0018901,MedGen:C1960469,OMIM:PS604169,Orphanet:54260 2 2 1.0000 condition_record_support_limited 20 0 2 Left_ventricular_noncompaction 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 human_phenotype_ontology_hp_0001670_medgen_c0205700 Asymmetric septal hypertrophy Human_Phenotype_Ontology:HP:0001670,MedGen:C0205700 2 2 1.0000 condition_record_support_limited 20 0 2 Asymmetric_septal_hypertrophy 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC1 mybpc1_related_disorder MYBPC1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 MYBPC1-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene MVK mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MVD mvd_related_disorder MVD-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 MVD-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene MUTYH human_phenotype_ontology_hp_0033680_mondo_mondo_0016691_medgen_c0334583_orphanet_251612 Pilocytic astrocytoma Human_Phenotype_Ontology:HP:0033680,MONDO:MONDO:0016691,MedGen:C0334583,Orphanet:251612 2 2 1.0000 condition_record_support_limited 20 0 2 Pilocytic_astrocytoma 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 1.0000 condition_record_support_limited 20 0 2 Ovarian_cancer 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH mondo_mondo_0956965_medgen_cn377554 Medulloblastoma SHH activated and TP53 wild-type MONDO:MONDO:0956965,MedGen:CN377554 2 2 1.0000 condition_record_support_limited 20 0 2 Medulloblastoma_SHH_activated_and_TP53_wild-type 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH inherited_polyposis_and_early_onset_colorectal_cancer_germline_testing Inherited polyposis and early onset colorectal cancer - germline testing . 2 2 1.0000 condition_record_support_limited 20 0 2 Inherited_polyposis_and_early_onset_colorectal_cancer_-_germline_testing 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 2 2 1.0000 condition_record_support_limited 20 0 1 Hereditary_breast_ovarian_cancer_syndrome 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 2 2 1.0000 condition_record_support_limited 20 0 1 Familial_cancer_of_breast 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH mondo_mondo_1060171_medgen_c5669877 Diffuse midline glioma, H3 K27-altered MONDO:MONDO:1060171,MedGen:C5669877 2 2 1.0000 condition_record_support_limited 20 0 2 Diffuse_midline_glioma,_H3_K27-altered 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUS81 mondo_mondo_0013754_medgen_c3280798_omim_614437_orphanet_90349 Cutis laxa, autosomal recessive, type 1B MONDO:MONDO:0013754,MedGen:C3280798,OMIM:614437,Orphanet:90349 2 2 1.0000 condition_record_support_limited 20 0 1 Cutis_laxa,_autosomal_recessive,_type_1B 3 low_record_burden_interpretation_limited low_record_burden_gene MTTP mondo_mondo_0011565_medgen_c4552048_omim_605552 Metabolic syndrome X MONDO:MONDO:0011565,MedGen:C4552048,OMIM:605552 2 2 1.0000 condition_record_support_limited 20 0 2 Metabolic_syndrome_X 179 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTRR mtrr_related_disorder MTRR-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 MTRR-related_disorder 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTRR disorders_of_intracellular_cobalamin_metabolism Disorders of Intracellular Cobalamin Metabolism MedGen:CN043592 2 2 1.0000 condition_record_support_limited 20 0 2 Disorders_of_Intracellular_Cobalamin_Metabolism 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTR human_phenotype_ontology_hp_0002156_mondo_mondo_0004737_medgen_c0019880 Homocystinuria Human_Phenotype_Ontology:HP:0002156,MONDO:MONDO:0004737,MedGen:C0019880 2 2 1.0000 condition_record_support_limited 20 0 2 Homocystinuria 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTR human_phenotype_ontology_hp_0003524_medgen_c1848580 Decreased methionine synthase activity Human_Phenotype_Ontology:HP:0003524,MedGen:C1848580 2 2 1.0000 condition_record_support_limited 20 0 2 Decreased_methionine_synthase_activity 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTOR mtor_related_disorder MTOR-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 MTOR-related_disorder 52 large_gene_or_donor_burden_stress_case donor_burden_stress MTMR2 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 2 2 1.0000 condition_record_support_limited 20 0 2 Charcot-Marie-Tooth_disease 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTMR10 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTMR10 fan1_related_disorder FAN1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 FAN1-related_disorder 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTIF2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 2 low_record_burden_interpretation_limited low_record_burden_gene MTHFS condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene MTFMT mtfmt_related_disorder MTFMT-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 MTFMT-related_disorder 32 compact_adjacent_exon_block_opportunity local_compact_architecture MTFMT mtfmt_related_disorders MTFMT-Related Disorders . 2 2 1.0000 condition_record_support_limited 20 0 2 MTFMT-Related_Disorders 32 compact_adjacent_exon_block_opportunity local_compact_architecture MTFMT mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 32 compact_adjacent_exon_block_opportunity local_compact_architecture MTAP mondo_mondo_0007205_medgen_c1862177_omim_112250_orphanet_85182 Diaphyseal medullary stenosis-bone malignancy syndrome MONDO:MONDO:0007205,MedGen:C1862177,OMIM:112250,Orphanet:85182 2 2 1.0000 condition_record_support_limited 20 0 0 Diaphyseal_medullary_stenosis-bone_malignancy_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene MSX2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene MSX1 mondo_mondo_0012142_medgen_c1837210_omim_608874 Orofacial cleft 5 MONDO:MONDO:0012142,MedGen:C1837210,OMIM:608874 2 2 1.0000 condition_record_support_limited 20 0 0 Orofacial_cleft_5 29 compact_adjacent_exon_block_opportunity local_compact_architecture MSR1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene MSH6 mondo_mondo_0006003_medgen_cn277893 Uterine corpus cancer MONDO:MONDO:0006003,MedGen:CN277893 2 2 1.0000 condition_record_support_limited 20 0 2 Uterine_corpus_cancer 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH6 inherited_prostate_cancer Inherited prostate cancer . 2 2 1.0000 condition_record_support_limited 20 0 2 Inherited_prostate_cancer 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH6 inherited_polyposis_and_early_onset_colorectal_cancer_germline_testing Inherited polyposis and early onset colorectal cancer - germline testing . 2 2 1.0000 condition_record_support_limited 20 0 2 Inherited_polyposis_and_early_onset_colorectal_cancer_-_germline_testing 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH6 human_phenotype_ontology_hp_0006716_medgen_c4024989 Hereditary nonpolyposis colorectal carcinoma Human_Phenotype_Ontology:HP:0006716,MedGen:C4024989 2 2 1.0000 condition_record_support_limited 20 0 2 Hereditary_nonpolyposis_colorectal_carcinoma 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH6 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 2 2 1.0000 condition_record_support_limited 20 0 2 Hereditary_breast_ovarian_cancer_syndrome 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH6 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 2 2 1.0000 condition_record_support_limited 20 0 2 Colorectal_cancer 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH2 mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 2 2 1.0000 condition_record_support_limited 20 0 1 Malignant_tumor_of_breast 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH2 inherited_ovarian_cancer_without_breast_cancer Inherited ovarian cancer (without breast cancer) . 2 2 1.0000 condition_record_support_limited 20 0 2 Inherited_ovarian_cancer_(without_breast_cancer) 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH2 mondo_mondo_0023113_medgen_cn280943 Familial colorectal cancer MONDO:MONDO:0023113,MedGen:CN280943 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_colorectal_cancer 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH2 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 2 2 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH2 human_phenotype_ontology_hp_0003003_human_phenotype_ontology_hp_0006718_mondo_mondo_0021063_medgen_c0007102 Colon cancer Human_Phenotype_Ontology:HP:0003003,Human_Phenotype_Ontology:HP:0006718,MONDO:MONDO:0021063,MedGen:C0007102 2 2 1.0000 condition_record_support_limited 20 0 1 Colon_cancer 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH2 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 1 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 2 2 1.0000 condition_record_support_limited 20 0 2 Breast-ovarian_cancer,_familial,_susceptibility_to,_1 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MRPS34 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 10 low_record_burden_interpretation_limited low_record_burden_gene MRPS22 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 19 low_record_burden_interpretation_limited low_record_burden_gene MRPL49 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_disease 6 low_record_burden_interpretation_limited low_record_burden_gene MRPL44 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene MRPL39 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 2 2 1.0000 condition_record_support_limited 20 0 2 Leigh_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene MRPL3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene MRM2 mondo_mondo_0032815_medgen_c5231412_omim_618567 Mitochondrial DNA depletion syndrome 17 MONDO:MONDO:0032815,MedGen:C5231412,OMIM:618567 2 2 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_DNA_depletion_syndrome_17 2 low_record_burden_interpretation_limited low_record_burden_gene MRE11 human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 2 2 1.0000 condition_record_support_limited 20 0 2 Breast_carcinoma 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MRAS condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene MPZL2 mpzl2_related_disorder MPZL2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 MPZL2-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene MPZ human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Peripheral neuropathy Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 2 2 1.0000 condition_record_support_limited 20 0 1 Peripheral_neuropathy 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPZ medgen_c4016264 DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT MedGen:C4016264 2 2 1.0000 condition_record_support_limited 20 0 2 DEJERINE-SOTTAS_SYNDROME,_AUTOSOMAL_DOMINANT 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPZ medgen_c4016266 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS MedGen:C4016266 2 2 1.0000 condition_record_support_limited 20 0 2 CHARCOT-MARIE-TOOTH_DISEASE,_TYPE_1B,_WITH_FOCALLY_FOLDED_MYELIN_SHEATHS 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPZ autosomal_dominant_mpz_related_disorders Autosomal dominant MPZ-related disorders . 2 2 1.0000 condition_record_support_limited 20 0 2 Autosomal_dominant_MPZ-related_disorders 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPV17 mondo_mondo_0014943_medgen_c4310690_omim_617156 Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MONDO:MONDO:0014943,MedGen:C4310690,OMIM:617156 2 2 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_DNA_depletion_syndrome_15_(hepatocerebral_type) 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPO mondo_mondo_0007088_medgen_c1863052_omim_104300 Alzheimer disease type 1 MONDO:MONDO:0007088,MedGen:C1863052,OMIM:104300 2 2 1.0000 condition_record_support_limited 20 0 2 Alzheimer_disease_type_1 15 low_record_burden_interpretation_limited low_record_burden_gene MPI mpi_related_disorder MPI-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 MPI-related_disorder 147 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MOV10L1 mondo_mondo_0030818_medgen_c5676988_omim_619878 Spermatogenic failure 73 MONDO:MONDO:0030818,MedGen:C5676988,OMIM:619878 2 2 1.0000 condition_record_support_limited 20 0 2 Spermatogenic_failure_73 4 low_record_burden_interpretation_limited low_record_burden_gene MOV10L1 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 2 2 1.0000 condition_record_support_limited 20 0 2 Non-obstructive_azoospermia 4 low_record_burden_interpretation_limited low_record_burden_gene MORC2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MOCS1 human_phenotype_ontology_hp_0003570_mondo_mondo_0020480_medgen_c0268119_omim_ps252150_orphanet_833_orphanet_99732 Combined molybdoflavoprotein enzyme deficiency Human_Phenotype_Ontology:HP:0003570,MONDO:MONDO:0020480,MedGen:C0268119,OMIM:PS252150,Orphanet:833,Orphanet:99732 2 2 1.0000 condition_record_support_limited 20 0 1 Combined_molybdoflavoprotein_enzyme_deficiency 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MOCOS mocos_related_disorder MOCOS-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 MOCOS-related_disorder 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMUT human_phenotype_ontology_hp_0012120_medgen_c1855119 Methylmalonic aciduria Human_Phenotype_Ontology:HP:0012120,MedGen:C1855119 2 2 1.0000 condition_record_support_limited 20 0 2 Methylmalonic_aciduria 408 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMP21 mondo_mondo_0018677_medgen_c3178805_omim_ps306955_orphanet_450 Visceral heterotaxy MONDO:MONDO:0018677,MedGen:C3178805,OMIM:PS306955,Orphanet:450 2 2 1.0000 condition_record_support_limited 20 0 2 Visceral_heterotaxy 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMP14 mondo_mondo_0010201_medgen_c0432289_omim_277950_orphanet_3460_orphanet_371428 Winchester syndrome MONDO:MONDO:0010201,MedGen:C0432289,OMIM:277950,Orphanet:3460,Orphanet:371428 2 2 1.0000 condition_record_support_limited 20 0 0 Winchester_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene MME human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Peripheral neuropathy Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 2 2 1.0000 condition_record_support_limited 20 0 2 Peripheral_neuropathy 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMACHC mondo_mondo_0009612_medgen_c1855114_omim_251000_orphanet_27 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:MONDO:0009612,MedGen:C1855114,OMIM:251000,Orphanet:27 2 2 1.0000 condition_record_support_limited 20 0 2 Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency 178 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMAB mmab_related_disorder MMAB-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 MMAB-related_disorder 108 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MLX mondo_mondo_0013689_medgen_c3280471_omim_614324_orphanet_243 Ovarian dysgenesis 3 MONDO:MONDO:0013689,MedGen:C3280471,OMIM:614324,Orphanet:243 2 2 1.0000 condition_record_support_limited 20 0 0 Ovarian_dysgenesis_3 2 low_record_burden_interpretation_limited low_record_burden_gene MLH3 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 2 2 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 18 low_record_burden_interpretation_limited low_record_burden_gene MLH1 human_phenotype_ontology_hp_0100273_mondo_mondo_0005401_mesh_d003110_medgen_c0009375 Colonic neoplasm Human_Phenotype_Ontology:HP:0100273,MONDO:MONDO:0005401,MeSH:D003110,MedGen:C0009375 2 2 1.0000 condition_record_support_limited 20 0 2 Colonic_neoplasm 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MLH1 human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 2 2 1.0000 condition_record_support_limited 20 0 2 Breast_carcinoma 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MKS1 human_phenotype_ontology_hp_0006034_human_phenotype_ontology_hp_0006046_human_phenotype_ontology_hp_0006123_human_phenotype_ontology_hp_0009605_human_phenotype_ontology_hp_0010442_mondo_mondo_0021003_medgen_c0152427_omim_603596 Polydactyly Human_Phenotype_Ontology:HP:0006034,Human_Phenotype_Ontology:HP:0006046,Human_Phenotype_Ontology:HP:0006123,Human_Phenotype_Ontology:HP:0009605,Human_Phenotype_Ontology:HP:0010442,MONDO:MONDO:0021003,MedGen:C0152427,OMIM:603596 2 2 1.0000 condition_record_support_limited 20 0 2 Polydactyly 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MKKS human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Nephronophthisis Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 2 2 1.0000 condition_record_support_limited 20 0 1 Nephronophthisis 124 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MKKS medgen_c4016908 BARDET-BIEDL SYNDROME 2/6, DIGENIC MedGen:C4016908 2 2 1.0000 condition_record_support_limited 20 0 0 BARDET-BIEDL_SYNDROME_2/6,_DIGENIC 124 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITF human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MINPP1 mondo_mondo_0008566_medgen_c4225426_omim_188470 Thyroid cancer, nonmedullary, 2 MONDO:MONDO:0008566,MedGen:C4225426,OMIM:188470 2 2 1.0000 condition_record_support_limited 20 0 0 Thyroid_cancer,_nonmedullary,_2 16 low_record_burden_interpretation_limited low_record_burden_gene MILR1 polg2_related_disorder POLG2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 POLG2-related_disorder 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MIEF1 mondo_mondo_0957824_medgen_c5882708_omim_620550 Optic atrophy 14 MONDO:MONDO:0957824,MedGen:C5882708,OMIM:620550 2 2 1.0000 condition_record_support_limited 20 0 0 Optic_atrophy_14 2 low_record_burden_interpretation_limited low_record_burden_gene MID1 mid1_related_disorder MID1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 MID1-related_disorder 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MICU1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MICOS13 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene MICOS13 mondo_mondo_0032679_medgen_c5193031_omim_618329 Combined oxidative phosphorylation deficiency 37 MONDO:MONDO:0032679,MedGen:C5193031,OMIM:618329 2 2 1.0000 condition_record_support_limited 20 0 1 Combined_oxidative_phosphorylation_deficiency_37 5 low_record_burden_interpretation_limited low_record_burden_gene MICAL1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene MICAL1 mondo_mondo_0700090_medgen_cn030884_omim_600512_orphanet_101046 Epilepsy, familial temporal lobe, 1 MONDO:MONDO:0700090,MedGen:CN030884,OMIM:600512,Orphanet:101046 2 2 1.0000 condition_record_support_limited 20 0 0 Epilepsy,_familial_temporal_lobe,_1 4 low_record_burden_interpretation_limited low_record_burden_gene MGP condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene MFN2 human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 2 2 1.0000 condition_record_support_limited 20 0 1 Tip-toe_gait 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 medgen_c2079538 Charcot-Marie-Tooth disease, type 2A MedGen:C2079538 2 2 1.0000 condition_record_support_limited 20 0 2 Charcot-Marie-Tooth_disease,_type_2A 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture METTL5 human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 2 2 1.0000 condition_record_support_limited 20 0 2 Severe_intellectual_disability 9 low_record_burden_interpretation_limited low_record_burden_gene METTL23 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MET condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene MET mondo_mondo_0018055_medgen_c0279606_orphanet_33402 Pediatric hepatocellular carcinoma MONDO:MONDO:0018055,MedGen:C0279606,Orphanet:33402 2 2 1.0000 condition_record_support_limited 20 0 0 Pediatric_hepatocellular_carcinoma 13 low_record_burden_interpretation_limited low_record_burden_gene MET mondo_mondo_0014739_medgen_c4084709_omim_616705_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 97 MONDO:MONDO:0014739,MedGen:C4084709,OMIM:616705,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_nonsyndromic_hearing_loss_97 13 low_record_burden_interpretation_limited low_record_burden_gene MET mondo_mondo_0031045_medgen_c5774205_omim_620019 Arthrogryposis, distal, IIa 11 MONDO:MONDO:0031045,MedGen:C5774205,OMIM:620019 2 2 1.0000 condition_record_support_limited 20 0 2 Arthrogryposis,_distal,_IIa_11 13 low_record_burden_interpretation_limited low_record_burden_gene MERTK mertk_related_disorder MERTK-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 MERTK-related_disorder 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEOX1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene MEN1 mondo_mondo_0007052_medgen_c4538355_omim_102200_orphanet_314777_orphanet_963 Somatotroph adenoma MONDO:MONDO:0007052,MedGen:C4538355,OMIM:102200,Orphanet:314777,Orphanet:963 2 2 1.0000 condition_record_support_limited 20 0 1 Somatotroph_adenoma 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEN1 human_phenotype_ontology_hp_0008200_human_phenotype_ontology_hp_0008254_mondo_mondo_0010837_medgen_c0221002 Primary hyperparathyroidism Human_Phenotype_Ontology:HP:0008200,Human_Phenotype_Ontology:HP:0008254,MONDO:MONDO:0010837,MedGen:C0221002 2 2 1.0000 condition_record_support_limited 20 0 1 Primary_hyperparathyroidism 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEN1 human_phenotype_ontology_hp_0002897_human_phenotype_ontology_hp_0008257_mondo_mondo_0006890_medgen_c0262587 Parathyroid gland adenoma Human_Phenotype_Ontology:HP:0002897,Human_Phenotype_Ontology:HP:0008257,MONDO:MONDO:0006890,MedGen:C0262587 2 2 1.0000 condition_record_support_limited 20 0 2 Parathyroid_gland_adenoma 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEN1 men1_related_disorder MEN1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 MEN1-related_disorder 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEN1 medgen_c4017331 Angiofibroma, somatic MedGen:C4017331 2 2 1.0000 condition_record_support_limited 20 0 0 Angiofibroma,_somatic 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEIS2 meis2_related_disorder MEIS2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 MEIS2-related_disorder 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEIS2 human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Cleft palate Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 2 2 1.0000 condition_record_support_limited 20 0 1 Cleft_palate 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEF2C mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEF2C mef2c_related_disorder MEF2C-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 MEF2C-related_disorder 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEF2A coronary_artery_disease_myocardial_infarction Coronary artery disease/myocardial infarction . 2 2 1.0000 condition_record_support_limited 20 0 1 Coronary_artery_disease/myocardial_infarction 3 low_record_burden_interpretation_limited low_record_burden_gene MEF2A mondo_mondo_0012011_medgen_c1842247_omim_608320 Coronary artery disease, autosomal dominant, 1 MONDO:MONDO:0012011,MedGen:C1842247,OMIM:608320 2 2 1.0000 condition_record_support_limited 20 0 1 Coronary_artery_disease,_autosomal_dominant,_1 3 low_record_burden_interpretation_limited low_record_burden_gene MED24 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 1.0000 condition_record_support_limited 20 0 0 Short_stature 2 low_record_burden_interpretation_limited low_record_burden_gene MED23 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED16 mondo_mondo_0000508_medgen_c5680525_orphanet_183763 Syndromic intellectual disability MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 2 2 1.0000 condition_record_support_limited 20 0 0 Syndromic_intellectual_disability 16 low_record_burden_interpretation_limited low_record_burden_gene MED13L medgen_c4225516 Impaired intellectual development and distinctive facial features with cardiac defects MedGen:C4225516 2 2 1.0000 condition_record_support_limited 20 0 0 Impaired_intellectual_development_and_distinctive_facial_features_with_cardiac_defects 284 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED13L human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 284 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12L mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 35 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_facial_shape 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MECR mondo_mondo_0957978_medgen_c5882723_omim_620629 Optic atrophy 16 MONDO:MONDO:0957978,MedGen:C5882723,OMIM:620629 2 2 1.0000 condition_record_support_limited 20 0 2 Optic_atrophy_16 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECR mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_disease 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 encephalopathy_neonatal_severemental_retardation_x_linked_syndromic_13rett_syndrome Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome . 2 2 1.0000 condition_record_support_limited 20 0 2 Encephalopathy,_neonatal_severeMental_retardation,_X-linked,_syndromic_13Rett_syndrome 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0002376_human_phenotype_ontology_hp_0002471_human_phenotype_ontology_hp_0002489_human_phenotype_ontology_hp_0006797_human_phenotype_ontology_hp_0006828_human_phenotype_ontology_hp_0006854_human_phenotype_ontology_hp_0007037_human_phenotype_ontology_hp_0007242_human_phenotype_ontology_hp_0007247_medgen_c1836830 Developmental regression Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830 2 2 1.0000 condition_record_support_limited 20 0 2 Developmental_regression 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 2 2 1.0000 condition_record_support_limited 20 0 2 Delayed_speech_and_language_development 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Delayed gross motor development Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 2 2 1.0000 condition_record_support_limited 20 0 2 Delayed_gross_motor_development 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 2 2 1.0000 condition_record_support_limited 20 0 1 Autism 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 mondo_mondo_0017746_medgen_c2748910_orphanet_3095 Atypical Rett syndrome MONDO:MONDO:0017746,MedGen:C2748910,Orphanet:3095 2 2 1.0000 condition_record_support_limited 20 0 2 Atypical_Rett_syndrome 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MDH2 human_phenotype_ontology_hp_0006948_human_phenotype_ontology_hp_0007105_human_phenotype_ontology_hp_0007309_human_phenotype_ontology_hp_0007353_medgen_c1856408 Infantile encephalopathy Human_Phenotype_Ontology:HP:0006948,Human_Phenotype_Ontology:HP:0007105,Human_Phenotype_Ontology:HP:0007309,Human_Phenotype_Ontology:HP:0007353,MedGen:C1856408 2 2 1.0000 condition_record_support_limited 20 0 2 Infantile_encephalopathy 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCPH1 mondo_mondo_0023662_medgen_c5543531_omim_619369 Lymphatic malformation 10 MONDO:MONDO:0023662,MedGen:C5543531,OMIM:619369 2 2 1.0000 condition_record_support_limited 20 0 0 Lymphatic_malformation_10 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCOLN1 human_phenotype_ontology_hp_0006970_mondo_mondo_0015742_medgen_c0023529 Periventricular leukomalacia Human_Phenotype_Ontology:HP:0006970,MONDO:MONDO:0015742,MedGen:C0023529 2 2 1.0000 condition_record_support_limited 20 0 2 Periventricular_leukomalacia 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCOLN1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCOLN1 human_phenotype_ontology_hp_0001434_human_phenotype_ontology_hp_0001510_human_phenotype_ontology_hp_0001512_human_phenotype_ontology_hp_0001514_human_phenotype_ontology_hp_0001517_human_phenotype_ontology_hp_0001532_human_phenotype_ontology_hp_0008847_human_phenotype_ontology_hp_0008870_human_phenotype_ontology_hp_0008886_human_phenotype_ontology_hp_0008893_human_phenotype_ontology_hp_0008926_medgen_c0456070 Growth delay Human_Phenotype_Ontology:HP:0001434,Human_Phenotype_Ontology:HP:0001510,Human_Phenotype_Ontology:HP:0001512,Human_Phenotype_Ontology:HP:0001514,Human_Phenotype_Ontology:HP:0001517,Human_Phenotype_Ontology:HP:0001532,Human_Phenotype_Ontology:HP:0008847,Human_Phenotype_Ontology:HP:0008870,Human_Phenotype_Ontology:HP:0008886,Human_Phenotype_Ontology:HP:0008893,Human_Phenotype_Ontology:HP:0008926,MedGen:C0456070 2 2 1.0000 condition_record_support_limited 20 0 2 Growth_delay 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCOLN1 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 2 2 1.0000 condition_record_support_limited 20 0 2 Delayed_speech_and_language_development 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCOLN1 human_phenotype_ontology_hp_0012448_medgen_c1277241 Delayed myelination Human_Phenotype_Ontology:HP:0012448,MedGen:C1277241 2 2 1.0000 condition_record_support_limited 20 0 2 Delayed_myelination 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCOLN1 human_phenotype_ontology_hp_0007844_human_phenotype_ontology_hp_0007883_human_phenotype_ontology_hp_0007957_human_phenotype_ontology_hp_0008502_medgen_c0010038 Corneal opacity Human_Phenotype_Ontology:HP:0007844,Human_Phenotype_Ontology:HP:0007883,Human_Phenotype_Ontology:HP:0007957,Human_Phenotype_Ontology:HP:0008502,MedGen:C0010038 2 2 1.0000 condition_record_support_limited 20 0 2 Corneal_opacity 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCOLN1 human_phenotype_ontology_hp_0007366_medgen_c4024900 Atrophy/Degeneration affecting the brainstem Human_Phenotype_Ontology:HP:0007366,MedGen:C4024900 2 2 1.0000 condition_record_support_limited 20 0 2 Atrophy/Degeneration_affecting_the_brainstem 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCMDC2 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 2 2 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 3 low_record_burden_interpretation_limited low_record_burden_gene MCM9 mondo_mondo_0010706_medgen_c4552079_omim_311360_orphanet_642691 Premature ovarian failure 1 MONDO:MONDO:0010706,MedGen:C4552079,OMIM:311360,Orphanet:642691 2 2 1.0000 condition_record_support_limited 20 0 2 Premature_ovarian_failure_1 10 low_record_burden_interpretation_limited low_record_burden_gene MCM7 human_phenotype_ontology_hp_0001128_medgen_c0221259 Trichiasis Human_Phenotype_Ontology:HP:0001128,MedGen:C0221259 2 2 1.0000 condition_record_support_limited 20 0 2 Trichiasis 5 low_record_burden_interpretation_limited low_record_burden_gene MCM7 medgen_c5441816 Psychomotor retardation MedGen:C5441816 2 2 1.0000 condition_record_support_limited 20 0 2 Psychomotor_retardation 5 low_record_burden_interpretation_limited low_record_burden_gene MCM7 human_phenotype_ontology_hp_0000335_human_phenotype_ontology_hp_0005328_human_phenotype_ontology_hp_0005333_medgen_c1857710 Progeroid facial appearance Human_Phenotype_Ontology:HP:0000335,Human_Phenotype_Ontology:HP:0005328,Human_Phenotype_Ontology:HP:0005333,MedGen:C1857710 2 2 1.0000 condition_record_support_limited 20 0 2 Progeroid_facial_appearance 5 low_record_burden_interpretation_limited low_record_burden_gene MCM7 human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Microphthalmia Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 2 2 1.0000 condition_record_support_limited 20 0 2 Microphthalmia 5 low_record_burden_interpretation_limited low_record_burden_gene MCM7 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 2 Microcephaly 5 low_record_burden_interpretation_limited low_record_burden_gene MCM7 human_phenotype_ontology_hp_0000540_mondo_mondo_0004891_medgen_c0020490 Hypermetropia Human_Phenotype_Ontology:HP:0000540,MONDO:MONDO:0004891,MedGen:C0020490 2 2 1.0000 condition_record_support_limited 20 0 2 Hypermetropia 5 low_record_burden_interpretation_limited low_record_burden_gene MCM7 human_phenotype_ontology_hp_0000490_human_phenotype_ontology_hp_0000663_mondo_mondo_0001210_medgen_c0423224 Deeply set eye Human_Phenotype_Ontology:HP:0000490,Human_Phenotype_Ontology:HP:0000663,MONDO:MONDO:0001210,MedGen:C0423224 2 2 1.0000 condition_record_support_limited 20 0 2 Deeply_set_eye 5 low_record_burden_interpretation_limited low_record_burden_gene MCM7 human_phenotype_ontology_hp_0000483_mondo_mondo_0011284_medgen_c0004106_omim_603047 Astigmatism Human_Phenotype_Ontology:HP:0000483,MONDO:MONDO:0011284,MedGen:C0004106,OMIM:603047 2 2 1.0000 condition_record_support_limited 20 0 2 Astigmatism 5 low_record_burden_interpretation_limited low_record_burden_gene MCM7 human_phenotype_ontology_hp_0012803_mondo_mondo_0001478_medgen_c0003081 Anisometropia Human_Phenotype_Ontology:HP:0012803,MONDO:MONDO:0001478,MedGen:C0003081 2 2 1.0000 condition_record_support_limited 20 0 2 Anisometropia 5 low_record_burden_interpretation_limited low_record_burden_gene MCM4 mondo_mondo_0012383_medgen_c1864947_omim_609981_orphanet_75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency MONDO:MONDO:0012383,MedGen:C1864947,OMIM:609981,Orphanet:75391 2 2 1.0000 condition_record_support_limited 20 0 1 Primary_immunodeficiency_with_natural-killer_cell_deficiency_and_adrenal_insufficiency 2 low_record_burden_interpretation_limited low_record_burden_gene MCM3AP mcm3ap_related_disorder MCM3AP-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 MCM3AP-related_disorder 107 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture MCM2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene MCM10 medgen_c3532247 Fetal Cardiomyopathy MedGen:C3532247 2 2 1.0000 condition_record_support_limited 20 0 2 Fetal_Cardiomyopathy 4 low_record_burden_interpretation_limited low_record_burden_gene MCFD2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene MCFD2 mondo_mondo_0009206_medgen_c4551981_omim_227300_orphanet_35909 Factor V and factor VIII, combined deficiency of, type 1 MONDO:MONDO:0009206,MedGen:C4551981,OMIM:227300,Orphanet:35909 2 2 1.0000 condition_record_support_limited 20 0 1 Factor_V_and_factor_VIII,_combined_deficiency_of,_type_1 16 low_record_burden_interpretation_limited low_record_burden_gene MCEE human_phenotype_ontology_hp_0002912_human_phenotype_ontology_hp_0003123_human_phenotype_ontology_hp_0008295_mondo_mondo_0002012_mesh_c537358_medgen_c0268583_omim_ps251000 Methylmalonic acidemia Human_Phenotype_Ontology:HP:0002912,Human_Phenotype_Ontology:HP:0003123,Human_Phenotype_Ontology:HP:0008295,MONDO:MONDO:0002012,MeSH:C537358,MedGen:C0268583,OMIM:PS251000 2 2 1.0000 condition_record_support_limited 20 0 2 Methylmalonic_acidemia 9 low_record_burden_interpretation_limited low_record_burden_gene MCCC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 203 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCC mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 2 2 1.0000 condition_record_support_limited 20 0 0 Carcinoma_of_colon 2 low_record_burden_interpretation_limited low_record_burden_gene MCAT mondo_mondo_0957935_medgen_c5882716_omim_620583 Optic atrophy 15 MONDO:MONDO:0957935,MedGen:C5882716,OMIM:620583 2 2 1.0000 condition_record_support_limited 20 0 0 Optic_atrophy_15 2 low_record_burden_interpretation_limited low_record_burden_gene MBTPS2 mondo_mondo_0049223_medgen_c4746956_omim_301014 Osteogenesis imperfecta, type 19 MONDO:MONDO:0049223,MedGen:C4746956,OMIM:301014 2 2 1.0000 condition_record_support_limited 20 0 0 Osteogenesis_imperfecta,_type_19 17 low_record_burden_interpretation_limited low_record_burden_gene MBOAT7 mboat7_related_disorder MBOAT7-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 MBOAT7-related_disorder 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MBD5 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 1.0000 condition_record_support_limited 20 0 2 Autism_spectrum_disorder 119 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MAX human_phenotype_ontology_hp_0002666_mondo_mondo_0008233_medgen_c0031511_omim_171300_orphanet_29072 Pheochromocytoma Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072 2 2 1.0000 condition_record_support_limited 20 0 2 Pheochromocytoma 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAU2 condition_not_provided condition not provided . 2 2 1.0000 condition_record_support_limited 20 2 0 See_cases 12 low_record_burden_interpretation_limited low_record_burden_gene MAU2 mau2_related_chromatinopathy MAU2-related chromatinopathy . 2 2 1.0000 condition_record_support_limited 20 0 0 MAU2-related_chromatinopathy 12 low_record_burden_interpretation_limited low_record_burden_gene MAT1A mat1a_related_disorder MAT1A-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 MAT1A-related_disorder 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAST4 human_phenotype_ontology_hp_0012469_medgen_c3887898 Infantile spasms Human_Phenotype_Ontology:HP:0012469,MedGen:C3887898 2 2 1.0000 condition_record_support_limited 20 0 0 Infantile_spasms 3 low_record_burden_interpretation_limited low_record_burden_gene MAST3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 8 low_record_burden_interpretation_limited low_record_burden_gene MARVELD2 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 2 Hearing_loss,_autosomal_recessive 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MARVELD2 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 1.0000 condition_record_support_limited 20 0 2 Hearing_impairment 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MARS2 mondo_mondo_0014636_medgen_c5567742_omim_616430_orphanet_447954 Combined oxidative phosphorylation defect type 25 MONDO:MONDO:0014636,MedGen:C5567742,OMIM:616430,Orphanet:447954 2 2 1.0000 condition_record_support_limited 20 0 0 Combined_oxidative_phosphorylation_defect_type_25 6 low_record_burden_interpretation_limited low_record_burden_gene MARS1 condition_not_provided condition not provided MedGen:CN169374 2 2 1.0000 condition_record_support_limited 20 2 0 not_specified 7 low_record_burden_interpretation_limited low_record_burden_gene MAPT medgen_c4551862 Progressive supranuclear ophthalmoplegia MedGen:C4551862 2 2 1.0000 condition_record_support_limited 20 0 2 Progressive_supranuclear_ophthalmoplegia 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAPKBP1 mapkbp1_related_disorder MAPKBP1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 MAPKBP1-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene MAP4K4 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene MAP3K1 condition_not_provided condition not provided .|MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 See_cases|not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene MAP2K2 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 Noonan syndrome 1 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 2 2 1.0000 condition_record_support_limited 20 0 2 Noonan_syndrome_1 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP2K2 mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 Noonan syndrome MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 2 2 1.0000 condition_record_support_limited 20 0 2 Noonan_syndrome 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP2K2 map2k2_related_disorder MAP2K2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 MAP2K2-related_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP2K1 mondo_mondo_0020297_medgen_c5681679_orphanet_98733 Noonan syndrome and Noonan-related syndrome MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 2 2 1.0000 condition_record_support_limited 20 0 2 Noonan_syndrome_and_Noonan-related_syndrome 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP2K1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP2K1 extracranial_arteriovenous_malformation Extracranial arteriovenous malformation . 2 2 1.0000 condition_record_support_limited 20 0 1 Extracranial_arteriovenous_malformation 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP2K1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 2 2 1.0000 condition_record_support_limited 20 0 2 Cardiovascular_phenotype 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP2K1 mondo_mondo_0007265_medgen_cn029449_omim_115150_orphanet_1340 Cardiofaciocutaneous syndrome 1 MONDO:MONDO:0007265,MedGen:CN029449,OMIM:115150,Orphanet:1340 2 2 1.0000 condition_record_support_limited 20 0 2 Cardiofaciocutaneous_syndrome_1 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP1B mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 1.0000 condition_record_support_limited 20 0 2 Autism_spectrum_disorder 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MAOA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 17 low_record_burden_interpretation_limited low_record_burden_gene MAN2B2 mondo_mondo_0976261_medgen_c6012707_omim_621140_orphanet_695110 Congenital disorder of glycosylation type 1EE with or without immunodeficiency MONDO:MONDO:0976261,MedGen:C6012707,OMIM:621140,Orphanet:695110 2 2 1.0000 condition_record_support_limited 20 0 0 Congenital_disorder_of_glycosylation_type_1EE_with_or_without_immunodeficiency 5 low_record_burden_interpretation_limited low_record_burden_gene MAN2B1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 358 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAN2A2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 2 low_record_burden_interpretation_limited low_record_burden_gene MAK mak_related_disorder MAK-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 MAK-related_disorder 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAGT1 mondo_mondo_0026729_medgen_c5231393_omim_301031 Congenital disorder of glycosylation, type ICC MONDO:MONDO:0026729,MedGen:C5231393,OMIM:301031 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_disorder_of_glycosylation,_type_ICC 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAGT1 mondo_mondo_0015286_medgen_c0282577_orphanet_137 Congenital disorder of glycosylation MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_disorder_of_glycosylation 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAGEL2 medgen_c0008073 Developmental disorder MedGen:C0008073 2 2 1.0000 condition_record_support_limited 20 0 1 Developmental_disorder 95 single_exon_hotspot_opportunity local_compact_architecture MAFB mafb_related_disorder MAFB-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 MAFB-related_disorder 24 single_exon_hotspot_opportunity local_compact_architecture MAFB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 24 single_exon_hotspot_opportunity local_compact_architecture MAFA mondo_mondo_0007834_medgen_c1578917_omim_147630 Islet cell adenomatosis MONDO:MONDO:0007834,MedGen:C1578917,OMIM:147630 2 2 1.0000 condition_record_support_limited 20 0 0 Islet_cell_adenomatosis 2 low_record_burden_interpretation_limited low_record_burden_gene MAF human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 40 compact_adjacent_exon_block_opportunity local_compact_architecture MAF maf_related_disorder MAF-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 MAF-related_disorder 40 compact_adjacent_exon_block_opportunity local_compact_architecture MAF mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 40 compact_adjacent_exon_block_opportunity local_compact_architecture MAEL human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 2 2 1.0000 condition_record_support_limited 20 0 0 Male_infertility 2 low_record_burden_interpretation_limited low_record_burden_gene MAD1L1 mondo_mondo_0009759_medgen_c1850343_omim_257300_orphanet_1052 Mosaic variegated aneuploidy syndrome 1 MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300,Orphanet:1052 2 2 1.0000 condition_record_support_limited 20 0 0 Mosaic_variegated_aneuploidy_syndrome_1 6 low_record_burden_interpretation_limited low_record_burden_gene MACF1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 20 large_gene_or_donor_burden_stress_case donor_burden_stress MACF1 human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Lissencephaly Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 2 2 1.0000 condition_record_support_limited 20 0 2 Lissencephaly 20 large_gene_or_donor_burden_stress_case donor_burden_stress M1AP mondo_mondo_0030846_medgen_c5436823_omim_619108 Spermatogenic failure 48 MONDO:MONDO:0030846,MedGen:C5436823,OMIM:619108 2 2 1.0000 condition_record_support_limited 20 0 1 Spermatogenic_failure_48 3 low_record_burden_interpretation_limited low_record_burden_gene LZTS1 medgen_c4016881 Esophageal squamous cell carcinoma, somatic MedGen:C4016881 2 2 1.0000 condition_record_support_limited 20 0 0 Esophageal_squamous_cell_carcinoma,_somatic 2 low_record_burden_interpretation_limited low_record_burden_gene LZTR1 monogenic_short_statue Monogenic short statue . 2 2 1.0000 condition_record_support_limited 20 0 2 Monogenic_short_statue 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LZTR1 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 2 2 1.0000 condition_record_support_limited 20 0 0 Hereditary_breast_ovarian_cancer_syndrome 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LZTFL1 lztfl1_related_disorder LZTFL1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 LZTFL1-related_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LZTFL1 mondo_mondo_0008854_medgen_c2936862_omim_209900 Bardet-Biedl syndrome 1 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 2 2 1.0000 condition_record_support_limited 20 0 2 Bardet-Biedl_syndrome_1 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LYZ condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene LYZ mondo_mondo_0007099_medgen_c0268389_omim_105200_orphanet_85450 Familial visceral amyloidosis, Ostertag type MONDO:MONDO:0007099,MedGen:C0268389,OMIM:105200,Orphanet:85450 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_visceral_amyloidosis,_Ostertag_type 4 low_record_burden_interpretation_limited low_record_burden_gene LYZ mondo_mondo_0971009_medgen_c5935572_omim_620658 Amyloidosis, hereditary systemic 5 MONDO:MONDO:0971009,MedGen:C5935572,OMIM:620658 2 2 1.0000 condition_record_support_limited 20 0 0 Amyloidosis,_hereditary_systemic_5 4 low_record_burden_interpretation_limited low_record_burden_gene LYST mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 272 large_gene_or_donor_burden_stress_case donor_burden_stress LYST medgen_c4016993 CHEDIAK-HIGASHI SYNDROME, ADULT TYPE MedGen:C4016993 2 2 1.0000 condition_record_support_limited 20 0 2 CHEDIAK-HIGASHI_SYNDROME,_ADULT_TYPE 272 large_gene_or_donor_burden_stress_case donor_burden_stress LYSET mondo_mondo_0859156_medgen_c5444223_omim_619345 Dysostosis multiplex, Ain-Naz type MONDO:MONDO:0859156,MedGen:C5444223,OMIM:619345 2 2 1.0000 condition_record_support_limited 20 0 0 Dysostosis_multiplex,_Ain-Naz_type 3 low_record_burden_interpretation_limited low_record_burden_gene LTBP3 heritable_thoracic_aortic_disease Heritable Thoracic Aortic Disease MedGen:CN868256 2 2 1.0000 condition_record_support_limited 20 0 2 Heritable_Thoracic_Aortic_Disease 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LTBP2 mondo_mondo_0010968_medgen_c1832977_omim_600975_orphanet_98976 Glaucoma 3, primary infantile, B MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975,Orphanet:98976 2 2 1.0000 condition_record_support_limited 20 0 2 Glaucoma_3,_primary_infantile,_B 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LSS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRSAM1 mondo_mondo_0014299_medgen_c3810283_omim_615670_orphanet_93921 LZTR1-related schwannomatosis MONDO:MONDO:0014299,MedGen:C3810283,OMIM:615670,Orphanet:93921 2 2 1.0000 condition_record_support_limited 20 0 1 LZTR1-related_schwannomatosis 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRSAM1 charcot_marie_tooth_disease_axonal_type_2p_ar Charcot-Marie-Tooth disease axonal type 2P-AR . 2 2 1.0000 condition_record_support_limited 20 0 2 Charcot-Marie-Tooth_disease_axonal_type_2P-AR 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRRK2 mondo_mondo_0008199_medgen_c3160718_omim_168600_orphanet_411602 Parkinson disease, late-onset MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600,Orphanet:411602 2 2 1.0000 condition_record_support_limited 20 0 2 Parkinson_disease,_late-onset 10 low_record_burden_interpretation_limited low_record_burden_gene LRRC8C mondo_mondo_0975957_medgen_c5975557_omim_621056 Telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature MONDO:MONDO:0975957,MedGen:C5975557,OMIM:621056 2 2 1.0000 condition_record_support_limited 20 0 0 Telangiectasia,_impaired_intellectual_development,_microcephaly,_metaphyseal_dysplasia,_eye_abnormalities,_and_short_stature 2 low_record_burden_interpretation_limited low_record_burden_gene LRRC7 lrrc7_associated_obesity_and_neurodevelopmental_disorder LRRC7-associated obesity and neurodevelopmental disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 LRRC7-associated_obesity_and_neurodevelopmental_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene LRRC7 mondo_mondo_0980748_medgen_cn380316_omim_621415 Intellectual developmental disorder, autosomal dominant 77 MONDO:MONDO:0980748,MedGen:CN380316,OMIM:621415 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder,_autosomal_dominant_77 5 low_record_burden_interpretation_limited low_record_burden_gene LRRC56 vascular_tumors_including_pyogenic_granuloma Vascular Tumors Including Pyogenic Granuloma . 2 2 1.0000 condition_record_support_limited 20 0 2 Vascular_Tumors_Including_Pyogenic_Granuloma 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Rhabdomyosarcoma Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 2 2 1.0000 condition_record_support_limited 20 0 2 Rhabdomyosarcoma 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 mondo_mondo_0012371_medgen_c1860991_omim_609942_orphanet_648 Noonan syndrome 3 MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648 2 2 1.0000 condition_record_support_limited 20 0 1 Noonan_syndrome_3 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 2 2 1.0000 condition_record_support_limited 20 0 2 Cardiovascular_phenotype 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 human_phenotype_ontology_hp_0100026_mesh_d001165_medgen_c0003857 Arteriovenous malformation Human_Phenotype_Ontology:HP:0100026,MeSH:D001165,MedGen:C0003857 2 2 1.0000 condition_record_support_limited 20 0 0 Arteriovenous_malformation 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC41 mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 2 2 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 2 low_record_burden_interpretation_limited low_record_burden_gene LRRC37A2 human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Muscular dystrophy Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 2 2 1.0000 condition_record_support_limited 20 0 2 Muscular_dystrophy 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRRC37A2 gosr2_related_disorder GOSR2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 GOSR2-related_disorder 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRRC37A2 human_phenotype_ontology_hp_0000106_human_phenotype_ontology_hp_0001918_human_phenotype_ontology_hp_0008671_human_phenotype_ontology_hp_0012622_mondo_mondo_0005300_medgen_c1561643 Chronic kidney disease Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643 2 2 1.0000 condition_record_support_limited 20 0 2 Chronic_kidney_disease 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRRC23 mondo_mondo_0970999_medgen_c5935625_omim_620848 Spermatogenic failure 92 MONDO:MONDO:0970999,MedGen:C5935625,OMIM:620848 2 2 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_92 2 low_record_burden_interpretation_limited low_record_burden_gene LRPPRC lrpprc_related_disorder LRPPRC-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 LRPPRC-related_disorder 332 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP6 lrp6_related_disorder LRP6-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 LRP6-related_disorder 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP6 mondo_mondo_0012586_medgen_c1970440_omim_610947 Coronary artery disease, autosomal dominant 2 MONDO:MONDO:0012586,MedGen:C1970440,OMIM:610947 2 2 1.0000 condition_record_support_limited 20 0 2 Coronary_artery_disease,_autosomal_dominant_2 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP5 mondo_mondo_0008159_medgen_c0029458 Postmenopausal osteoporosis MONDO:MONDO:0008159,MedGen:C0029458 2 2 1.0000 condition_record_support_limited 20 0 1 Postmenopausal_osteoporosis 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP5 mondo_mondo_0008265_medgen_c0887850_omim_174050_orphanet_2924 Polycystic liver disease 1 MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924 2 2 1.0000 condition_record_support_limited 20 0 2 Polycystic_liver_disease_1 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP5 medgen_c1866080 High bone mass MedGen:C1866080 2 2 1.0000 condition_record_support_limited 20 0 1 High_bone_mass 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP5 mondo_mondo_0019516_mesh_d000080345_medgen_c0339539_omim_ps133780_orphanet_891 Familial exudative vitreoretinopathy MONDO:MONDO:0019516,MeSH:D000080345,MedGen:C0339539,OMIM:PS133780,Orphanet:891 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_exudative_vitreoretinopathy 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP4 isolated_hand_syndactyly Isolated hand syndactyly . 2 2 1.0000 condition_record_support_limited 20 0 0 Isolated_hand_syndactyly 46 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LRP2 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 1.0000 condition_record_support_limited 20 0 0 Hearing_impairment 205 large_gene_or_donor_burden_stress_case donor_burden_stress LRBA mondo_mondo_0014168_medgen_c3809383_omim_615401_orphanet_228003 Severe combined immunodeficiency due to CORO1A deficiency MONDO:MONDO:0014168,MedGen:C3809383,OMIM:615401,Orphanet:228003 2 2 1.0000 condition_record_support_limited 20 0 2 Severe_combined_immunodeficiency_due_to_CORO1A_deficiency 186 large_gene_or_donor_burden_stress_case donor_burden_stress LRBA lrba_related_disorder LRBA-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 LRBA-related_disorder 186 large_gene_or_donor_burden_stress_case donor_burden_stress LRBA mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 2 2 1.0000 condition_record_support_limited 20 0 1 Inherited_Immunodeficiency_Diseases 186 large_gene_or_donor_burden_stress_case donor_burden_stress LRAT medgen_c2750064 RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED MedGen:C2750064 2 2 1.0000 condition_record_support_limited 20 0 2 RETINAL_DYSTROPHY,_EARLY-ONSET_SEVERE,_LRAT-RELATED 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRAT medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 2 2 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_retinitis_pigmentosa 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LPIN2 mondo_mondo_0019751_medgen_c3890737_orphanet_93665 Autoinflammatory syndrome MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 2 2 1.0000 condition_record_support_limited 20 0 2 Autoinflammatory_syndrome 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LPIN1 human_phenotype_ontology_hp_0008942_medgen_c3807306 Acute rhabdomyolysis Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 2 2 1.0000 condition_record_support_limited 20 0 1 Acute_rhabdomyolysis 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LOX lox_related_disorder LOX-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 LOX-related_disorder 54 compact_adjacent_exon_block_opportunity local_compact_architecture LOC128092249 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene LMNA mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 Neuromuscular disease MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 2 2 1.0000 condition_record_support_limited 20 0 2 Neuromuscular_disease 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA mondo_mondo_0016584_medgen_c0432291_omim_ps248370_orphanet_2457 Mandibuloacral dysplasia MONDO:MONDO:0016584,MedGen:C0432291,OMIM:PS248370,Orphanet:2457 2 2 1.0000 condition_record_support_limited 20 0 0 Mandibuloacral_dysplasia 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA human_phenotype_ontology_hp_0009125_mondo_mondo_0006573_medgen_c0023787 Lipodystrophy Human_Phenotype_Ontology:HP:0009125,MONDO:MONDO:0006573,MedGen:C0023787 2 2 1.0000 condition_record_support_limited 20 0 2 Lipodystrophy 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA mondo_mondo_0013262_medgen_c1834481_omim_613426_orphanet_154_orphanet_54260 Dilated cardiomyopathy 1S MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426,Orphanet:154,Orphanet:54260 2 2 1.0000 condition_record_support_limited 20 0 2 Dilated_cardiomyopathy_1S 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 2 2 1.0000 condition_record_support_limited 20 0 2 Charcot-Marie-Tooth_disease 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA mondo_mondo_0012180_medgen_c1836906_omim_609040 Arrhythmogenic right ventricular dysplasia 9 MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040 2 2 1.0000 condition_record_support_limited 20 0 0 Arrhythmogenic_right_ventricular_dysplasia_9 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMBRD2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene LMBRD2 lmbrd2_related_disorder LMBRD2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 LMBRD2-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene LMBRD1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMBRD1 lmbrd1_related_disorder LMBRD1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 LMBRD1-related_disorder 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMBR1L dsd_incomplete_virilization DSD incomplete virilization . 2 2 1.0000 condition_record_support_limited 20 0 0 DSD_incomplete_virilization 2 low_record_burden_interpretation_limited low_record_burden_gene LMBR1 mondo_mondo_0017454_medgen_c5779878_omim_190605 Triphalangeal thumb-polysyndactyly syndrome MONDO:MONDO:0017454,MedGen:C5779878,OMIM:190605 2 2 1.0000 condition_record_support_limited 20 0 2 Triphalangeal_thumb-polysyndactyly_syndrome 18 low_record_burden_interpretation_limited low_record_burden_gene LMAN2L mondo_mondo_0014815_medgen_c4225168_omim_616887_orphanet_88616 Intellectual disability, autosomal recessive 52 MONDO:MONDO:0014815,MedGen:C4225168,OMIM:616887,Orphanet:88616 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_autosomal_recessive_52 3 low_record_burden_interpretation_limited low_record_burden_gene LMAN1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene LITAF condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene LIPT2 mondo_mondo_0060562_medgen_c4540052_omim_617668_orphanet_447795 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities MONDO:MONDO:0060562,MedGen:C4540052,OMIM:617668,Orphanet:447795 2 2 1.0000 condition_record_support_limited 20 0 1 Encephalopathy,_neonatal_severe,_with_lactic_acidosis_and_brain_abnormalities 2 low_record_burden_interpretation_limited low_record_burden_gene LIPH liph_related_disorder LIPH-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 LIPH-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene LIPE lipodystrophy_childhood_onset Lipodystrophy - childhood onset . 2 2 1.0000 condition_record_support_limited 20 0 0 Lipodystrophy_-_childhood_onset 5 low_record_burden_interpretation_limited low_record_burden_gene LIPC mondo_mondo_0013533_medgen_c3151466_omim_614025_orphanet_140905 Hyperlipidemia due to hepatic triglyceride lipase deficiency MONDO:MONDO:0013533,MedGen:C3151466,OMIM:614025,Orphanet:140905 2 2 1.0000 condition_record_support_limited 20 0 0 Hyperlipidemia_due_to_hepatic_triglyceride_lipase_deficiency 4 low_record_burden_interpretation_limited low_record_burden_gene LIPC human_phenotype_ontology_hp_0003119_human_phenotype_ontology_hp_0003611_medgen_c4025650 Abnormal circulating lipid concentration Human_Phenotype_Ontology:HP:0003119,Human_Phenotype_Ontology:HP:0003611,MedGen:C4025650 2 2 1.0000 condition_record_support_limited 20 0 0 Abnormal_circulating_lipid_concentration 4 low_record_burden_interpretation_limited low_record_burden_gene LIPA cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 2 2 1.0000 condition_record_support_limited 20 0 2 Cardiovascular_phenotype 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LINGO1 mondo_mondo_0020846_medgen_c4748192_omim_618103 Intellectual disability, autosomal recessive 64 MONDO:MONDO:0020846,MedGen:C4748192,OMIM:618103 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_autosomal_recessive_64 2 low_record_burden_interpretation_limited low_record_burden_gene LIG3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene LHCGR human_phenotype_ontology_hp_0008185_medgen_c1859979 Precocious puberty in males Human_Phenotype_Ontology:HP:0008185,MedGen:C1859979 2 2 1.0000 condition_record_support_limited 20 0 2 Precocious_puberty_in_males 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LGR4 mondo_mondo_0859205_medgen_c2874202_omim_619613 Delayed puberty, self-limited MONDO:MONDO:0859205,MedGen:C2874202,OMIM:619613 2 2 1.0000 condition_record_support_limited 20 0 0 Delayed_puberty,_self-limited 2 low_record_burden_interpretation_limited low_record_burden_gene LGI1 lgi1_related_disorder LGI1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 LGI1-related_disorder 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LEMD3 human_phenotype_ontology_hp_0010739_mondo_mondo_0001414_medgen_c0029455 Osteopoikilosis Human_Phenotype_Ontology:HP:0010739,MONDO:MONDO:0001414,MedGen:C0029455 2 2 1.0000 condition_record_support_limited 20 0 1 Osteopoikilosis 70 compact_adjacent_exon_block_opportunity local_compact_architecture LEMD3 multiple_monogenic_benign_skin_tumours Multiple monogenic benign skin tumours . 2 2 1.0000 condition_record_support_limited 20 0 0 Multiple_monogenic_benign_skin_tumours 70 compact_adjacent_exon_block_opportunity local_compact_architecture LEMD3 mondo_mondo_0015995_medgen_c3149695_orphanet_1879 Melorheostosis with osteopoikilosis MONDO:MONDO:0015995,MedGen:C3149695,Orphanet:1879 2 2 1.0000 condition_record_support_limited 20 0 2 Melorheostosis_with_osteopoikilosis 70 compact_adjacent_exon_block_opportunity local_compact_architecture LEMD3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 70 compact_adjacent_exon_block_opportunity local_compact_architecture LEMD3 medgen_c3149399 Dermatofibrosis lenticularis disseminata, isolated MedGen:C3149399 2 2 1.0000 condition_record_support_limited 20 0 1 Dermatofibrosis_lenticularis_disseminata,_isolated 70 compact_adjacent_exon_block_opportunity local_compact_architecture LEF1 human_phenotype_ontology_hp_0100257_mondo_mondo_0016576_medgen_c0265554_omim_ps183600_orphanet_2440 Ectrodactyly Human_Phenotype_Ontology:HP:0100257,MONDO:MONDO:0016576,MedGen:C0265554,OMIM:PS183600,Orphanet:2440 2 2 1.0000 condition_record_support_limited 20 0 2 Ectrodactyly 6 low_record_burden_interpretation_limited low_record_burden_gene LDLR mondo_mondo_0011374_medgen_c1863512_omim_603813_orphanet_391665 Hypercholesterolemia, familial, 4 MONDO:MONDO:0011374,MedGen:C1863512,OMIM:603813,Orphanet:391665 2 2 1.0000 condition_record_support_limited 20 0 2 Hypercholesterolemia,_familial,_4 1933 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LDLR mondo_mondo_0018473_medgen_c0020479_omim_617347_orphanet_412 Familial type 3 hyperlipoproteinemia MONDO:MONDO:0018473,MedGen:C0020479,OMIM:617347,Orphanet:412 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_type_3_hyperlipoproteinemia 1933 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LDLR medgen_c4229399 Early-onset coronary artery disease MedGen:C4229399 2 2 1.0000 condition_record_support_limited 20 0 2 Early-onset_coronary_artery_disease 1933 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LDLR human_phenotype_ontology_hp_0003119_human_phenotype_ontology_hp_0003611_medgen_c4025650 Abnormal circulating lipid concentration Human_Phenotype_Ontology:HP:0003119,Human_Phenotype_Ontology:HP:0003611,MedGen:C4025650 2 2 1.0000 condition_record_support_limited 20 0 0 Abnormal_circulating_lipid_concentration 1933 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LDHD human_phenotype_ontology_hp_0045040_medgen_c4073168 Abnormal circulating lactate dehydrogenase concentration Human_Phenotype_Ontology:HP:0045040,MedGen:C4073168 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_circulating_lactate_dehydrogenase_concentration 8 low_record_burden_interpretation_limited low_record_burden_gene LDB3 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 2 2 1.0000 condition_record_support_limited 20 0 2 Cardiomyopathy 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LCAT lcat_related_disorder LCAT-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 LCAT-related_disorder 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LCA5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LBR mondo_mondo_0013276_medgen_c0748397_omim_613471_orphanet_779 Reynolds syndrome MONDO:MONDO:0013276,MedGen:C0748397,OMIM:613471,Orphanet:779 2 2 1.0000 condition_record_support_limited 20 0 2 Reynolds_syndrome 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LBR mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 Jeune thoracic dystrophy MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 2 2 1.0000 condition_record_support_limited 20 0 2 Jeune_thoracic_dystrophy 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LBR anadysplasia_like_spontaneously_remitting_spondylometaphyseal_dysplasia Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia . 2 2 1.0000 condition_record_support_limited 20 0 2 Anadysplasia-like,_spontaneously_remitting_spondylometaphyseal_dysplasia 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARS2 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 2 2 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARS2 mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 2 2 1.0000 condition_record_support_limited 20 0 2 Nonsyndromic_genetic_hearing_loss 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARS2 lars2_related_disorder LARS2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 LARS2-related_disorder 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARS2 lars2_related_disorders LARS2-Related Disorders . 2 2 1.0000 condition_record_support_limited 20 0 2 LARS2-Related_Disorders 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARGE1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMP2 efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 2 2 1.0000 condition_record_support_limited 20 0 2 Primary_dilated_cardiomyopathy 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMB3 mondo_mondo_0006541_mesh_d004820_medgen_c0014527 Epidermolysis bullosa MONDO:MONDO:0006541,MeSH:D004820,MedGen:C0014527 2 2 1.0000 condition_record_support_limited 20 0 1 Epidermolysis_bullosa 305 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMB3 human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Abnormality of the skin Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 2 2 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_skin 305 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMB1 human_phenotype_ontology_hp_0006818_mondo_mondo_0015146_medgen_c0431375_orphanet_102009 Classic lissencephaly Human_Phenotype_Ontology:HP:0006818,MONDO:MONDO:0015146,MedGen:C0431375,Orphanet:102009 2 2 1.0000 condition_record_support_limited 20 0 1 Classic_lissencephaly 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LAMA4 mondo_mondo_0014095_medgen_c3808935_omim_615235_orphanet_154 Dilated cardiomyopathy 1JJ MONDO:MONDO:0014095,MedGen:C3808935,OMIM:615235,Orphanet:154 2 2 1.0000 condition_record_support_limited 20 0 0 Dilated_cardiomyopathy_1JJ 3 low_record_burden_interpretation_limited low_record_burden_gene LAMA2 qualitative_or_quantitative_defects_of_merosin Qualitative or quantitative defects of merosin MedGen:CN226848,Orphanet:207094 2 2 1.0000 condition_record_support_limited 20 0 2 Qualitative_or_quantitative_defects_of_merosin 953 large_gene_or_donor_burden_stress_case donor_burden_stress LAMA2 human_phenotype_ontology_hp_0003741_human_phenotype_ontology_hp_0003793_mondo_mondo_0019950_medgen_c0699743_orphanet_97242 Congenital muscular dystrophy Human_Phenotype_Ontology:HP:0003741,Human_Phenotype_Ontology:HP:0003793,MONDO:MONDO:0019950,MedGen:C0699743,Orphanet:97242 2 2 1.0000 condition_record_support_limited 20 0 0 Congenital_muscular_dystrophy 953 large_gene_or_donor_burden_stress_case donor_burden_stress LAMA1 lama1_related_disorder LAMA1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 LAMA1-related_disorder 125 large_gene_or_donor_burden_stress_case donor_burden_stress LACC1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene L3HYPDH neurodevelopmental_disorder_with_seizures_and_impaired_intellectual_and_language_development NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND IMPAIRED INTELLECTUAL AND LANGUAGE DEVELOPMENT MedGen:CN381014,OMIM:621533 2 2 1.0000 condition_record_support_limited 20 0 2 NEURODEVELOPMENTAL_DISORDER_WITH_SEIZURES_AND_IMPAIRED_INTELLECTUAL_AND_LANGUAGE_DEVELOPMENT 4 low_record_burden_interpretation_limited low_record_burden_gene L3HYPDH jkamp_associated_neurodevelopmental_disease JKAMP-associated neurodevelopmental disease . 2 2 1.0000 condition_record_support_limited 20 0 0 JKAMP-associated_neurodevelopmental_disease 4 low_record_burden_interpretation_limited low_record_burden_gene L1CAM x_linked_l1cam_related_disorders X-linked L1CAM-related disorders . 2 2 1.0000 condition_record_support_limited 20 0 0 X-linked_L1CAM-related_disorders 203 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture L1CAM l1cam_related_disorders L1CAM-related disorders . 2 2 1.0000 condition_record_support_limited 20 0 2 L1CAM-related_disorders 203 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRT9 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 18 low_record_burden_interpretation_limited low_record_burden_gene KRT86 mondo_mondo_0700341_medgen_c6012713_omim_621169 Monilethrix-2 MONDO:MONDO:0700341,MedGen:C6012713,OMIM:621169 2 2 1.0000 condition_record_support_limited 20 0 2 Monilethrix-2 8 low_record_burden_interpretation_limited low_record_burden_gene KRT83 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene KRT83 mondo_mondo_0700342_medgen_c6012714_omim_621170 Monilethrix-3 MONDO:MONDO:0700342,MedGen:C6012714,OMIM:621170 2 2 1.0000 condition_record_support_limited 20 0 1 Monilethrix-3 3 low_record_burden_interpretation_limited low_record_burden_gene KRT81 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene KRT81 mondo_mondo_0700341_medgen_c6012713_omim_621169 Monilethrix-2 MONDO:MONDO:0700341,MedGen:C6012713,OMIM:621169 2 2 1.0000 condition_record_support_limited 20 0 2 Monilethrix-2 2 low_record_burden_interpretation_limited low_record_burden_gene KRT74 mondo_mondo_0020717_medgen_c1860238_omim_194300_orphanet_170 Autosomal dominant wooly hair MONDO:MONDO:0020717,MedGen:C1860238,OMIM:194300,Orphanet:170 2 2 1.0000 condition_record_support_limited 20 0 2 Autosomal_dominant_wooly_hair 3 low_record_burden_interpretation_limited low_record_burden_gene KRT6C mondo_mondo_0017672_medgen_c2931923_orphanet_307837 Focal palmoplantar keratoderma MONDO:MONDO:0017672,MedGen:C2931923,Orphanet:307837 2 2 1.0000 condition_record_support_limited 20 0 2 Focal_palmoplantar_keratoderma 3 low_record_burden_interpretation_limited low_record_burden_gene KRT5 mondo_mondo_0007554_medgen_c5561924_omim_131900_orphanet_79399 Epidermolysis bullosa simplex, Koebner type MONDO:MONDO:0007554,MedGen:C5561924,OMIM:131900,Orphanet:79399 2 2 1.0000 condition_record_support_limited 20 0 1 Epidermolysis_bullosa_simplex,_Koebner_type 96 compact_adjacent_exon_block_opportunity local_compact_architecture KRT5 mondo_mondo_0006541_mesh_d004820_medgen_c0014527 Epidermolysis bullosa MONDO:MONDO:0006541,MeSH:D004820,MedGen:C0014527 2 2 1.0000 condition_record_support_limited 20 0 2 Epidermolysis_bullosa 96 compact_adjacent_exon_block_opportunity local_compact_architecture KRT5 epidermolysis_bullosa_simplex_2d_generalized_severe_autosomal_recessive EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE . 2 2 1.0000 condition_record_support_limited 20 0 2 EPIDERMOLYSIS_BULLOSA_SIMPLEX_2D,_GENERALIZED_SEVERE,_AUTOSOMAL_RECESSIVE 96 compact_adjacent_exon_block_opportunity local_compact_architecture KRT25 mondo_mondo_0014765_medgen_c4225214_omim_616760_orphanet_170 Wooly hair, autosomal recessive 3 MONDO:MONDO:0014765,MedGen:C4225214,OMIM:616760,Orphanet:170 2 2 1.0000 condition_record_support_limited 20 0 2 Wooly_hair,_autosomal_recessive_3 2 low_record_burden_interpretation_limited low_record_burden_gene KRT13 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene KRT13 mondo_mondo_0014346_medgen_c4014321_omim_615785 White sponge nevus 2 MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785 2 2 1.0000 condition_record_support_limited 20 0 2 White_sponge_nevus_2 2 low_record_burden_interpretation_limited low_record_burden_gene KRT1 mondo_mondo_0957303_medgen_c2936837_omim_620411 Palmoplantar keratoderma, epidermolytic, 2 MONDO:MONDO:0957303,MedGen:C2936837,OMIM:620411 2 2 1.0000 condition_record_support_limited 20 0 2 Palmoplantar_keratoderma,_epidermolytic,_2 48 compact_adjacent_exon_block_opportunity local_compact_architecture KRT1 mondo_mondo_0011881_medgen_c2931123_omim_607654 Keratosis palmoplantaris striata 3 MONDO:MONDO:0011881,MedGen:C2931123,OMIM:607654 2 2 1.0000 condition_record_support_limited 20 0 2 Keratosis_palmoplantaris_striata_3 48 compact_adjacent_exon_block_opportunity local_compact_architecture KRT1 krt1_related_disorder KRT1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 KRT1-related_disorder 48 compact_adjacent_exon_block_opportunity local_compact_architecture KRIT1 mondo_mondo_0031037_medgen_c2931263_omim_ps116860_orphanet_221061 Hereditary cavernous hemangioma of brain MONDO:MONDO:0031037,MedGen:C2931263,OMIM:PS116860,Orphanet:221061 2 2 1.0000 condition_record_support_limited 20 0 2 Hereditary_cavernous_hemangioma_of_brain 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRIT1 human_phenotype_ontology_hp_0001048_mondo_mondo_0003155_medgen_c0018920 Cavernous hemangioma Human_Phenotype_Ontology:HP:0001048,MONDO:MONDO:0003155,MedGen:C0018920 2 2 1.0000 condition_record_support_limited 20 0 1 Cavernous_hemangioma 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Ovarian neoplasm Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 2 2 1.0000 condition_record_support_limited 20 0 2 Ovarian_neoplasm 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0020297_medgen_c5681679_orphanet_98733 Noonan syndrome and Noonan-related syndrome MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 2 2 1.0000 condition_record_support_limited 20 0 2 Noonan_syndrome_and_Noonan-related_syndrome 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0005138_medgen_c0684249 Lung carcinoma MONDO:MONDO:0005138,MedGen:C0684249 2 2 1.0000 condition_record_support_limited 20 0 2 Lung_carcinoma 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0005411_medgen_c0153452 Gallbladder cancer MONDO:MONDO:0005411,MedGen:C0153452 2 2 1.0000 condition_record_support_limited 20 0 2 Gallbladder_cancer 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Endometrial carcinoma Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 2 2 1.0000 condition_record_support_limited 20 0 2 Endometrial_carcinoma 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KPTN kptn_related_disorder KPTN-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 KPTN-related_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KPTN mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KPNA7 mondo_mondo_0957220_medgen_c5830418_omim_620319 Oocyte/zygote/embryo maturation arrest 17 MONDO:MONDO:0957220,MedGen:C5830418,OMIM:620319 2 2 1.0000 condition_record_support_limited 20 0 0 Oocyte/zygote/embryo_maturation_arrest_17 2 low_record_burden_interpretation_limited low_record_burden_gene KPNA3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene KNG1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene KNG1 mondo_mondo_0023660_medgen_c5543516_omim_619363 Angioedema, hereditary, 6 MONDO:MONDO:0023660,MedGen:C5543516,OMIM:619363 2 2 1.0000 condition_record_support_limited 20 0 0 Angioedema,_hereditary,_6 9 low_record_burden_interpretation_limited low_record_burden_gene KMT5B human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KMT2E human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 136 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2D human_phenotype_ontology_hp_0002665_mondo_mondo_0005062_mesh_d008223_medgen_c0024299_orphanet_223735 Lymphoma Human_Phenotype_Ontology:HP:0002665,MONDO:MONDO:0005062,MeSH:D008223,MedGen:C0024299,Orphanet:223735 2 2 1.0000 condition_record_support_limited 20 0 1 Lymphoma 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2D mondo_mondo_0008903_medgen_c0242379_omim_211980 Lung cancer MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 2 2 1.0000 condition_record_support_limited 20 0 2 Lung_cancer 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2C human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 2 2 1.0000 condition_record_support_limited 20 0 0 Tip-toe_gait 174 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2C human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 174 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2C human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 2 2 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 174 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2B human_phenotype_ontology_hp_0001260_human_phenotype_ontology_hp_0002327_medgen_c0013362 Dysarthria Human_Phenotype_Ontology:HP:0001260,Human_Phenotype_Ontology:HP:0002327,MedGen:C0013362 2 2 1.0000 condition_record_support_limited 20 0 2 Dysarthria 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2B mondo_mondo_0100516_medgen_cn322244 Complex neurodevelopmental disorder with motor features MONDO:MONDO:0100516,MedGen:CN322244 2 2 1.0000 condition_record_support_limited 20 0 0 Complex_neurodevelopmental_disorder_with_motor_features 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2A medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 2 2 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_intellectual_disability 520 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2A human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 0 Microcephaly 520 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KLKB1 klkb1_related_disorder KLKB1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 KLKB1-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene KLK4 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene KLK4 human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Amelogenesis imperfecta Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 2 2 1.0000 condition_record_support_limited 20 0 0 Amelogenesis_imperfecta 7 low_record_burden_interpretation_limited low_record_burden_gene KLK11 mondo_mondo_0957783_medgen_c5882691_omim_620507 Ichthyosis with erythrokeratoderma MONDO:MONDO:0957783,MedGen:C5882691,OMIM:620507 2 2 1.0000 condition_record_support_limited 20 0 1 Ichthyosis_with_erythrokeratoderma 2 low_record_burden_interpretation_limited low_record_burden_gene KLHL7 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KLHL7 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KLHL7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KLHL41 condition_not_provided condition not provided MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 32 compact_adjacent_exon_block_opportunity local_compact_architecture KLHL24 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene KLHL24 mondo_mondo_0859372_medgen_c5774308_omim_620236 Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies MONDO:MONDO:0859372,MedGen:C5774308,OMIM:620236 2 2 1.0000 condition_record_support_limited 20 0 0 Cardiomyopathy,_familial_hypertrophic,_29,_with_polyglucosan_bodies 11 low_record_burden_interpretation_limited low_record_burden_gene KLHL20 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided|not_specified 7 low_record_burden_interpretation_limited low_record_burden_gene KLF1 klf1_related_disorder KLF1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 KLF1-related_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIZ mondo_mondo_0700232_medgen_cn375907 KIZ-related retinopathy MONDO:MONDO:0700232,MedGen:CN375907 2 2 1.0000 condition_record_support_limited 20 0 1 KIZ-related_retinopathy 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KITLG condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene KIT kit_related_disorder KIT-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 KIT-related_disorder 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KISS1 mondo_mondo_0013915_medgen_c3541462_omim_614842_orphanet_432 Hypogonadotropic hypogonadism 13 with or without anosmia MONDO:MONDO:0013915,MedGen:C3541462,OMIM:614842,Orphanet:432 2 2 1.0000 condition_record_support_limited 20 0 0 Hypogonadotropic_hypogonadism_13_with_or_without_anosmia 2 low_record_burden_interpretation_limited low_record_burden_gene KIRREL3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene KIRREL1 mondo_mondo_0030962_medgen_c5543092_omim_619201 Nephrotic syndrome, type 23 MONDO:MONDO:0030962,MedGen:C5543092,OMIM:619201 2 2 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome,_type_23 2 low_record_burden_interpretation_limited low_record_burden_gene KIF7 medgen_c3277723 Joubert syndrome 12 MedGen:C3277723 2 2 1.0000 condition_record_support_limited 20 0 2 Joubert_syndrome_12 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF4A mondo_mondo_0010740_medgen_c1839235_omim_313490 Taurodontism, microdontia, and dens invaginatus MONDO:MONDO:0010740,MedGen:C1839235,OMIM:313490 2 2 1.0000 condition_record_support_limited 20 0 0 Taurodontism,_microdontia,_and_dens_invaginatus 8 low_record_burden_interpretation_limited low_record_burden_gene KIF3B mondo_mondo_0030071_medgen_c5394552_omim_618955 Retinitis pigmentosa 89 MONDO:MONDO:0030071,MedGen:C5394552,OMIM:618955 2 2 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa_89 2 low_record_burden_interpretation_limited low_record_burden_gene KIF2A condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene KIF22 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 8 low_record_burden_interpretation_limited low_record_burden_gene KIF20A mondo_mondo_0030330_medgen_c5543638_omim_619433 Cardiomyopathy, familial restrictive, 6 MONDO:MONDO:0030330,MedGen:C5543638,OMIM:619433 2 2 1.0000 condition_record_support_limited 20 0 0 Cardiomyopathy,_familial_restrictive,_6 2 low_record_burden_interpretation_limited low_record_burden_gene KIF1C kif1c_related_disorder KIF1C-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 KIF1C-related_disorder 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF1B mondo_mondo_0007308_medgen_c1861678_omim_118210_orphanet_99946 Charcot-Marie-Tooth disease type 2A1 MONDO:MONDO:0007308,MedGen:C1861678,OMIM:118210,Orphanet:99946 2 2 1.0000 condition_record_support_limited 20 0 0 Charcot-Marie-Tooth_disease_type_2A1 2 low_record_burden_interpretation_limited low_record_burden_gene KIF15 mondo_mondo_0859570_medgen_c5774189_omim_619981 Braddock-carey syndrome 2 MONDO:MONDO:0859570,MedGen:C5774189,OMIM:619981 2 2 1.0000 condition_record_support_limited 20 0 0 Braddock-carey_syndrome_2 2 low_record_burden_interpretation_limited low_record_burden_gene KIF11 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 1 Microcephaly 180 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF11 kif11_related_disorder KIF11-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 KIF11-related_disorder 180 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIAA1549 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene KIAA0930 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene KIAA0930 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene KIAA0753 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIAA0586 human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Rod-cone dystrophy Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 2 2 1.0000 condition_record_support_limited 20 0 2 Rod-cone_dystrophy 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIAA0586 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIAA0586 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIAA0586 kiaa0586_related_disorders KIAA0586- Related disorders . 2 2 1.0000 condition_record_support_limited 20 0 1 KIAA0586-_Related_disorders 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIAA0586 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 2 2 1.0000 condition_record_support_limited 20 0 2 Joubert_syndrome 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIAA0586 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIAA0586 mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_cerebellar_hypoplasia 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KGD4 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 2 2 1.0000 condition_record_support_limited 20 0 0 Leigh_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene KDSR condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene KDR condition_not_provided condition not provided MedGen:CN169374 2 2 1.0000 condition_record_support_limited 20 2 2 not_specified 3 low_record_burden_interpretation_limited low_record_burden_gene KDM6A mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM5C kdm5c_related_disorder KDM5C-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 KDM5C-related_disorder 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM5A human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 2 Seizure 11 low_record_burden_interpretation_limited low_record_burden_gene KDM5A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 11 low_record_burden_interpretation_limited low_record_burden_gene KDM3B human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 41 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KDM3B kdm3b_related_disorder KDM3B-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 KDM3B-related_disorder 41 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KDM2A mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene KDF1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene KCTD1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene KCNV2 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 2 2 1.0000 condition_record_support_limited 20 0 0 Cone-rod_dystrophy 80 compact_adjacent_exon_block_opportunity local_compact_architecture KCNT2 condition_not_provided condition not provided .|MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 See_cases|not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene KCNT2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 2 Seizure 15 low_record_burden_interpretation_limited low_record_burden_gene KCNT2 kcnt2_related_disorder KCNT2-related disorder MedGen:CN236796 2 2 1.0000 condition_record_support_limited 20 0 1 KCNT2-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene KCNQ3 kcnq3_related_disorder KCNQ3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 KCNQ3-related_disorder 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 mondo_mondo_0007366_medgen_c1852581_omim_121201_orphanet_1949 Seizures, benign familial neonatal, 2 MONDO:MONDO:0007366,MedGen:C1852581,OMIM:121201,Orphanet:1949 2 2 1.0000 condition_record_support_limited 20 0 2 Seizures,_benign_familial_neonatal,_2 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 medgen_c3149075 Seizures, benign familial neonatal, 1, and/or myokymia MedGen:C3149075 2 2 1.0000 condition_record_support_limited 20 0 2 Seizures,_benign_familial_neonatal,_1,_and/or_myokymia 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 medgen_c0235820 Neonatal encephalopathy MedGen:C0235820 2 2 1.0000 condition_record_support_limited 20 0 0 Neonatal_encephalopathy 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1OT1 mondo_mondo_0024540_medgen_c4551509_omim_220400_orphanet_768_orphanet_90647 Jervell and Lange-Nielsen syndrome 1 MONDO:MONDO:0024540,MedGen:C4551509,OMIM:220400,Orphanet:768,Orphanet:90647 2 2 1.0000 condition_record_support_limited 20 0 1 Jervell_and_Lange-Nielsen_syndrome_1 19 low_record_burden_interpretation_limited low_record_burden_gene KCNQ1OT1 mondo_mondo_0011857_medgen_c1837014_omim_607554 Atrial fibrillation, familial, 3 MONDO:MONDO:0011857,MedGen:C1837014,OMIM:607554 2 2 1.0000 condition_record_support_limited 20 0 2 Atrial_fibrillation,_familial,_3 19 low_record_burden_interpretation_limited low_record_burden_gene KCNQ1 monogenic_hearing_loss Monogenic hearing loss . 2 2 1.0000 condition_record_support_limited 20 0 2 Monogenic_hearing_loss 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 medgen_c4017089 Long QT syndrome 1, recessive MedGen:C4017089 2 2 1.0000 condition_record_support_limited 20 0 2 Long_QT_syndrome_1,_recessive 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 efo_efo_0000275_human_phenotype_ontology_hp_0001715_human_phenotype_ontology_hp_0005110_human_phenotype_ontology_hp_0005179_mondo_mondo_0004981_medgen_c0004238 Atrial fibrillation EFO:EFO_0000275,Human_Phenotype_Ontology:HP:0001715,Human_Phenotype_Ontology:HP:0005110,Human_Phenotype_Ontology:HP:0005179,MONDO:MONDO:0004981,MedGen:C0004238 2 2 1.0000 condition_record_support_limited 20 0 1 Atrial_fibrillation 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 efo_the_experimental_factor_ontology_efo_0000275_human_phenotype_ontology_hp_0001715_human_phenotype_ontology_hp_0005110_human_phenotype_ontology_hp_0005179_mondo_mondo_0004981_medgen_c0004238 Atrial fibrillation EFO:_The_Experimental_Factor_Ontology:EFO_0000275,Human_Phenotype_Ontology:HP:0001715,Human_Phenotype_Ontology:HP:0005110,Human_Phenotype_Ontology:HP:0005179,MONDO:MONDO:0004981,MedGen:C0004238 2 2 1.0000 condition_record_support_limited 20 0 2 Atrial_fibrillation 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNN2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 2 Seizure 19 low_record_burden_interpretation_limited low_record_burden_gene KCNN2 human_phenotype_ontology_hp_0100034_medgen_c0751900 Motor tics Human_Phenotype_Ontology:HP:0100034,MedGen:C0751900 2 2 1.0000 condition_record_support_limited 20 0 2 Motor_tics 19 low_record_burden_interpretation_limited low_record_burden_gene KCNN2 human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Moderate intellectual disability Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 2 2 1.0000 condition_record_support_limited 20 0 2 Moderate_intellectual_disability 19 low_record_burden_interpretation_limited low_record_burden_gene KCNN2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 19 low_record_burden_interpretation_limited low_record_burden_gene KCNN2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 19 low_record_burden_interpretation_limited low_record_burden_gene KCNN2 mondo_mondo_0030538_medgen_c5676907_omim_619724 Dystonia 34, myoclonic MONDO:MONDO:0030538,MedGen:C5676907,OMIM:619724 2 2 1.0000 condition_record_support_limited 20 0 1 Dystonia_34,_myoclonic 19 low_record_burden_interpretation_limited low_record_burden_gene KCNMA1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNMA1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNK4 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 2 Seizure 6 low_record_burden_interpretation_limited low_record_burden_gene KCNK4 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 6 low_record_burden_interpretation_limited low_record_burden_gene KCNK4 human_phenotype_ontology_hp_0000195_human_phenotype_ontology_hp_0000212_mondo_mondo_0002507_medgen_c0376480 Gingival overgrowth Human_Phenotype_Ontology:HP:0000195,Human_Phenotype_Ontology:HP:0000212,MONDO:MONDO:0002507,MedGen:C0376480 2 2 1.0000 condition_record_support_limited 20 0 2 Gingival_overgrowth 6 low_record_burden_interpretation_limited low_record_burden_gene KCNK4 human_phenotype_ontology_hp_0004543_human_phenotype_ontology_hp_0004554_human_phenotype_ontology_hp_0004766_medgen_c3277940 Generalized hypertrichosis Human_Phenotype_Ontology:HP:0004543,Human_Phenotype_Ontology:HP:0004554,Human_Phenotype_Ontology:HP:0004766,MedGen:C3277940 2 2 1.0000 condition_record_support_limited 20 0 2 Generalized_hypertrichosis 6 low_record_burden_interpretation_limited low_record_burden_gene KCNK4 mondo_mondo_0032714_medgen_c5193066_omim_618381_orphanet_598603 Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome MONDO:MONDO:0032714,MedGen:C5193066,OMIM:618381,Orphanet:598603 2 2 1.0000 condition_record_support_limited 20 0 2 Facial_dysmorphism,_hypertrichosis,_epilepsy,_intellectual/developmental_delay,_and_gingival_overgrowth_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene KCNK4 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_facial_shape 6 low_record_burden_interpretation_limited low_record_burden_gene KCNJ5 medgen_c4017656 Aldosterone-producing adrenal adenoma, somatic MedGen:C4017656 2 2 1.0000 condition_record_support_limited 20 0 2 Aldosterone-producing_adrenal_adenoma,_somatic 8 low_record_burden_interpretation_limited low_record_burden_gene KCNJ16 kcnj16_related_disorder KCNJ16-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 KCNJ16-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene KCNJ11 human_phenotype_ontology_hp_0000842_mondo_mondo_0002177_medgen_c0020459 Hyperinsulinemia Human_Phenotype_Ontology:HP:0000842,MONDO:MONDO:0002177,MedGen:C0020459 2 2 1.0000 condition_record_support_limited 20 0 2 Hyperinsulinemia 72 single_exon_hotspot_opportunity local_compact_architecture KCNJ10 sesame_like_syndrome SeSAME-like syndrome . 2 2 1.0000 condition_record_support_limited 20 0 1 SeSAME-like_syndrome 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNH5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene KCNH2 human_phenotype_ontology_hp_0001657_medgen_c0151878 Prolonged QT interval Human_Phenotype_Ontology:HP:0001657,MedGen:C0151878 2 2 1.0000 condition_record_support_limited 20 0 2 Prolonged_QT_interval 720 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNH2 medgen_c3277700 Long QT syndrome 1/2, digenic MedGen:C3277700 2 2 1.0000 condition_record_support_limited 20 0 2 Long_QT_syndrome_1/2,_digenic 720 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNH1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNE1 mondo_mondo_0013372_medgen_c1867904_omim_613695_orphanet_101016_orphanet_768 Long QT syndrome 5 MONDO:MONDO:0013372,MedGen:C1867904,OMIM:613695,Orphanet:101016,Orphanet:768 2 2 1.0000 condition_record_support_limited 20 0 2 Long_QT_syndrome_5 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCND3 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 2 2 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCND2 kcnd2_related_neurodevelopmental_disorder KCND2-related neurodevelopmental disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 KCND2-related_neurodevelopmental_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene KCND2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 8 low_record_burden_interpretation_limited low_record_burden_gene KCNB1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 2 Seizure 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNB1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_delay 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNA6 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene KCNA3 kcna3_associated_disorder KCNA3-associated disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 KCNA3-associated_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene KCNA2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNA2 mondo_mondo_0010632_medgen_c3463992_omim_308350 Developmental and epileptic encephalopathy, 1 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 2 2 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_1 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KATNB1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene KATNB1 katnb1_related_disorder KATNB1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 KATNB1-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene KAT8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene KAT6B mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6B mondo_mondo_0036042_medgen_c5680266_orphanet_597749 KAT6B-related multiple congenital anomalies syndrome MONDO:MONDO:0036042,MedGen:C5680266,Orphanet:597749 2 2 1.0000 condition_record_support_limited 20 0 1 KAT6B-related_multiple_congenital_anomalies_syndrome 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6B kat6b_related_spectrum_disorders KAT6B-Related Spectrum Disorders MedGen:CN239406 2 2 1.0000 condition_record_support_limited 20 0 1 KAT6B-Related_Spectrum_Disorders 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6A mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 191 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6A mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 191 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KARS1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KANK2 mondo_mondo_0033280_medgen_c4540453_omim_617783 Nephrotic syndrome 16 MONDO:MONDO:0033280,MedGen:C4540453,OMIM:617783 2 2 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome_16 3 low_record_burden_interpretation_limited low_record_burden_gene JUP condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JPH2 mondo_mondo_0030366_medgen_c5561970_omim_619492 Cardiomyopathy, dilated, 2E MONDO:MONDO:0030366,MedGen:C5561970,OMIM:619492 2 2 1.0000 condition_record_support_limited 20 0 0 Cardiomyopathy,_dilated,_2E 9 low_record_burden_interpretation_limited low_record_burden_gene JKAMP neurodevelopmental_disorder_with_seizures_and_impaired_intellectual_and_language_development NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND IMPAIRED INTELLECTUAL AND LANGUAGE DEVELOPMENT MedGen:CN381014,OMIM:621533 2 2 1.0000 condition_record_support_limited 20 0 2 NEURODEVELOPMENTAL_DISORDER_WITH_SEIZURES_AND_IMPAIRED_INTELLECTUAL_AND_LANGUAGE_DEVELOPMENT 4 low_record_burden_interpretation_limited low_record_burden_gene JKAMP jkamp_associated_neurodevelopmental_disease JKAMP-associated neurodevelopmental disease . 2 2 1.0000 condition_record_support_limited 20 0 0 JKAMP-associated_neurodevelopmental_disease 4 low_record_burden_interpretation_limited low_record_burden_gene JAK2 human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Acute myeloid leukemia Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 2 2 1.0000 condition_record_support_limited 20 0 1 Acute_myeloid_leukemia 8 low_record_burden_interpretation_limited low_record_burden_gene JAK2 mondo_mondo_0009891_mesh_d011087_medgen_c0032463_omim_263300_orphanet_729 Acquired polycythemia vera MONDO:MONDO:0009891,MeSH:D011087,MedGen:C0032463,OMIM:263300,Orphanet:729 2 2 1.0000 condition_record_support_limited 20 0 1 Acquired_polycythemia_vera 8 low_record_burden_interpretation_limited low_record_burden_gene JAGN1 mondo_mondo_0018542_medgen_c1853118_omim_ps202700_orphanet_42738 Severe congenital neutropenia MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738 2 2 1.0000 condition_record_support_limited 20 0 1 Severe_congenital_neutropenia 4 low_record_burden_interpretation_limited low_record_burden_gene JAGN1 mondo_mondo_0014456_medgen_c4014954_omim_616022_orphanet_423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency MONDO:MONDO:0014456,MedGen:C4014954,OMIM:616022,Orphanet:423384 2 2 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_severe_congenital_neutropenia_due_to_JAGN1_deficiency 4 low_record_burden_interpretation_limited low_record_burden_gene JAG1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 461 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JAG1 hepatic_ductular_hypoplasia Hepatic Ductular Hypoplasia . 2 2 1.0000 condition_record_support_limited 20 0 0 Hepatic_Ductular_Hypoplasia 461 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IVNS1ABP mondo_mondo_0033542_medgen_c5436501_omim_618969 Immunodeficiency 70 MONDO:MONDO:0033542,MedGen:C5436501,OMIM:618969 2 2 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_70 2 low_record_burden_interpretation_limited low_record_burden_gene IVD medgen_c4017056 Isovaleric acidemia, type I MedGen:C4017056 2 2 1.0000 condition_record_support_limited 20 0 1 Isovaleric_acidemia,_type_I 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITPR3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene ITPR3 mondo_mondo_0859311_medgen_c5774249_omim_620111 Charcot-Marie-Tooth disease, demyelinating, type 1J MONDO:MONDO:0859311,MedGen:C5774249,OMIM:620111 2 2 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease,_demyelinating,_type_1J 6 low_record_burden_interpretation_limited low_record_burden_gene ITPA mondo_mondo_0018226_medgen_c4552072_orphanet_364063 Infantile epileptic dyskinetic encephalopathy MONDO:MONDO:0018226,MedGen:C4552072,Orphanet:364063 2 2 1.0000 condition_record_support_limited 20 0 2 Infantile_epileptic_dyskinetic_encephalopathy 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITM2B mondo_mondo_0008306_medgen_c5190835_omim_176500_orphanet_439254_orphanet_97345 ABri amyloidosis MONDO:MONDO:0008306,MedGen:C5190835,OMIM:176500,Orphanet:439254,Orphanet:97345 2 2 1.0000 condition_record_support_limited 20 0 1 ABri_amyloidosis 4 low_record_burden_interpretation_limited low_record_burden_gene ITGB4 mondo_mondo_0009180_medgen_c0268374_omim_226650_orphanet_251393_orphanet_79402_orphanet_79405_orphanet_89840 Junctional epidermolysis bullosa, non-Herlitz type MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840 2 2 1.0000 condition_record_support_limited 20 0 2 Junctional_epidermolysis_bullosa,_non-Herlitz_type 160 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ITGB4 mondo_mondo_0017612_medgen_c0079301_omim_ps226650_orphanet_305 Junctional epidermolysis bullosa MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305 2 2 1.0000 condition_record_support_limited 20 0 2 Junctional_epidermolysis_bullosa 160 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ITGB4 mondo_mondo_0009255_medgen_c0268155_omim_230200_orphanet_352_orphanet_79237 Deficiency of galactokinase MONDO:MONDO:0009255,MedGen:C0268155,OMIM:230200,Orphanet:352,Orphanet:79237 2 2 1.0000 condition_record_support_limited 20 0 2 Deficiency_of_galactokinase 160 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ITGB3 human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 2 2 1.0000 condition_record_support_limited 20 0 2 Thrombocytopenia 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGB3 human_phenotype_ontology_hp_0003010_human_phenotype_ontology_hp_0008294_human_phenotype_ontology_hp_0008337_medgen_c0151529 Prolonged bleeding time Human_Phenotype_Ontology:HP:0003010,Human_Phenotype_Ontology:HP:0008294,Human_Phenotype_Ontology:HP:0008337,MedGen:C0151529 2 2 1.0000 condition_record_support_limited 20 0 2 Prolonged_bleeding_time 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGB3 itgb3_related_disorder ITGB3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 ITGB3-related_disorder 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGB2 mondo_mondo_0013016_medgen_c2748536_omim_612840_orphanet_2968_orphanet_99844 Leukocyte adhesion deficiency 3 MONDO:MONDO:0013016,MedGen:C2748536,OMIM:612840,Orphanet:2968,Orphanet:99844 2 2 1.0000 condition_record_support_limited 20 0 1 Leukocyte_adhesion_deficiency_3 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGB2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGB2 itgb2_related_disorder ITGB2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 ITGB2-related_disorder 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA8 itga8_related_disorder ITGA8-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 ITGA8-related_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA6 mondo_mondo_0009183_medgen_c5676875_omim_226730_orphanet_79403 Junctional epidermolysis bullosa with pyloric atresia MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403 2 2 1.0000 condition_record_support_limited 20 0 0 Junctional_epidermolysis_bullosa_with_pyloric_atresia 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA4 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene ITGA3 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 2 2 1.0000 condition_record_support_limited 20 0 1 Nephrotic_syndrome 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITCH condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ISCU condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene ISCU mondo_mondo_0009706_medgen_c1850718_omim_255125_orphanet_43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency MONDO:MONDO:0009706,MedGen:C1850718,OMIM:255125,Orphanet:43115 2 2 1.0000 condition_record_support_limited 20 0 2 Hereditary_myopathy_with_lactic_acidosis_due_to_ISCU_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene ISCA2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene ISCA2 mondo_mondo_0014611_medgen_c4225348_omim_616370_orphanet_457406 Multiple mitochondrial dysfunctions syndrome 4 MONDO:MONDO:0014611,MedGen:C4225348,OMIM:616370,Orphanet:457406 2 2 1.0000 condition_record_support_limited 20 0 1 Multiple_mitochondrial_dysfunctions_syndrome_4 4 low_record_burden_interpretation_limited low_record_burden_gene IRX4 mondo_mondo_0013746_medgen_c3280777_omim_614429 Ventricular septal defect 1 MONDO:MONDO:0013746,MedGen:C3280777,OMIM:614429 2 2 1.0000 condition_record_support_limited 20 0 0 Ventricular_septal_defect_1 3 low_record_burden_interpretation_limited low_record_burden_gene IRS1 human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Type 2 diabetes mellitus Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 2 2 1.0000 condition_record_support_limited 20 0 0 Type_2_diabetes_mellitus 2 low_record_burden_interpretation_limited low_record_burden_gene IRF4 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene IRF1 mondo_mondo_0958011_medgen_c5882739_omim_620668_orphanet_699615 Immunodeficiency 117 MONDO:MONDO:0958011,MedGen:C5882739,OMIM:620668,Orphanet:699615 2 2 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_117 4 low_record_burden_interpretation_limited low_record_burden_gene IREB2 mondo_mondo_0032758_medgen_c5193104_omim_618451 Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia MONDO:MONDO:0032758,MedGen:C5193104,OMIM:618451 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodegeneration,_early-onset,_with_choreoathetoid_movements_and_microcytic_anemia 2 low_record_burden_interpretation_limited low_record_burden_gene IREB2 neurodegeneration_early_onset_with_choreoathetosis_and_microcytic_anemia NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA . 2 2 1.0000 condition_record_support_limited 20 0 2 NEURODEGENERATION,_EARLY-ONSET,_WITH_CHOREOATHETOSIS_AND_MICROCYTIC_ANEMIA 2 low_record_burden_interpretation_limited low_record_burden_gene IRAK3 condition_not_provided condition not provided MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene IRAK1BP1 medgen_c4013980 Early onset severe obesity MedGen:C4013980 2 2 1.0000 condition_record_support_limited 20 0 0 Early_onset_severe_obesity 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IQSEC2 severe_intellectual_deficiency Severe intellectual deficiency . 2 2 1.0000 condition_record_support_limited 20 0 2 Severe_intellectual_deficiency 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IQSEC1 mondo_mondo_0032870_medgen_c5231462_omim_618687 Intellectual developmental disorder with short stature and behavioral abnormalities MONDO:MONDO:0032870,MedGen:C5231462,OMIM:618687 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder_with_short_stature_and_behavioral_abnormalities 3 low_record_burden_interpretation_limited low_record_burden_gene IQCN mondo_mondo_0859338_medgen_c5774276_omim_620170 Spermatogenic failure 78 MONDO:MONDO:0859338,MedGen:C5774276,OMIM:620170 2 2 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_78 2 low_record_burden_interpretation_limited low_record_burden_gene IQCE iqce_related_disorder IQCE-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 IQCE-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene IQCB1 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INTU mondo_mondo_0015461_medgen_c0036996_orphanet_1505 Short rib-polydactyly syndrome MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505 2 2 1.0000 condition_record_support_limited 20 0 2 Short_rib-polydactyly_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene INTS1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 23 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture INSR human_phenotype_ontology_hp_0000855_medgen_c0021655 Insulin resistance Human_Phenotype_Ontology:HP:0000855,MedGen:C0021655 2 2 1.0000 condition_record_support_limited 20 0 2 Insulin_resistance 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INSR insr_related_disorder INSR-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 INSR-related_disorder 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INSL6 human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Acute myeloid leukemia Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 2 2 1.0000 condition_record_support_limited 20 0 1 Acute_myeloid_leukemia 8 low_record_burden_interpretation_limited low_record_burden_gene INSL6 mondo_mondo_0009891_mesh_d011087_medgen_c0032463_omim_263300_orphanet_729 Acquired polycythemia vera MONDO:MONDO:0009891,MeSH:D011087,MedGen:C0032463,OMIM:263300,Orphanet:729 2 2 1.0000 condition_record_support_limited 20 0 1 Acquired_polycythemia_vera 8 low_record_burden_interpretation_limited low_record_burden_gene INS human_phenotype_ontology_hp_0000819_human_phenotype_ontology_hp_0004908_human_phenotype_ontology_hp_0008217_human_phenotype_ontology_hp_0008234_human_phenotype_ontology_hp_0008260_mondo_mondo_0005015_medgen_c0011849 Diabetes mellitus Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849 2 2 1.0000 condition_record_support_limited 20 0 2 Diabetes_mellitus 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INPP4B mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 2 2 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 2 low_record_burden_interpretation_limited low_record_burden_gene INO80 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 2 Seizure 2 low_record_burden_interpretation_limited low_record_burden_gene INO80 human_phenotype_ontology_hp_0011451_medgen_c2677180 Primary microcephaly Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 2 2 1.0000 condition_record_support_limited 20 0 2 Primary_microcephaly 2 low_record_burden_interpretation_limited low_record_burden_gene INO80 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 2 low_record_burden_interpretation_limited low_record_burden_gene INO80 ino80_related_immunodeficiency INO80-related immunodeficiency . 2 2 1.0000 condition_record_support_limited 20 0 2 INO80-related_immunodeficiency 2 low_record_burden_interpretation_limited low_record_burden_gene INF2 human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 2 2 1.0000 condition_record_support_limited 20 0 1 Focal_segmental_glomerulosclerosis 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPG1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPG1 mondo_mondo_0007934_medgen_c5561925_omim_153870_orphanet_251287 Benign concentric annular macular dystrophy MONDO:MONDO:0007934,MedGen:C5561925,OMIM:153870,Orphanet:251287 2 2 1.0000 condition_record_support_limited 20 0 2 Benign_concentric_annular_macular_dystrophy 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPDH2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene IMPDH2 human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 2 2 1.0000 condition_record_support_limited 20 0 0 Dystonic_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene IMPA1 mondo_mondo_0015020_medgen_c4310619_omim_617323 Intellectual disability, autosomal recessive 59 MONDO:MONDO:0015020,MedGen:C4310619,OMIM:617323 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_autosomal_recessive_59 2 low_record_burden_interpretation_limited low_record_burden_gene ILDR1 mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 2 2 1.0000 condition_record_support_limited 20 0 0 Nonsyndromic_genetic_hearing_loss 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ILDR1 childhood_onset_hearing_loss Childhood onset hearing loss . 2 2 1.0000 condition_record_support_limited 20 0 1 Childhood_onset_hearing_loss 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL6ST mondo_mondo_0031280_medgen_c0796176_omim_ps601559_orphanet_3206 Stuve-Wiedemann syndrome MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206 2 2 1.0000 condition_record_support_limited 20 0 1 Stuve-Wiedemann_syndrome 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL6ST mondo_mondo_0030681_medgen_c5676918_omim_619750 Immunodeficiency 94 with autoinflammation and dysmorphic facies MONDO:MONDO:0030681,MedGen:C5676918,OMIM:619750 2 2 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency_94_with_autoinflammation_and_dysmorphic_facies 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL36RN condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene IL2RG scid_with_features_of_gamma_chain_deficiency SCID with features of gamma chain deficiency . 2 2 1.0000 condition_record_support_limited 20 0 1 SCID_with_features_of_gamma_chain_deficiency 165 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL2RG mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 165 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL2RB mondo_mondo_0032782_medgen_c5193126_omim_618495 Immunodeficiency 63 with lymphoproliferation and autoimmunity MONDO:MONDO:0032782,MedGen:C5193126,OMIM:618495 2 2 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_63_with_lymphoproliferation_and_autoimmunity 14 low_record_burden_interpretation_limited low_record_burden_gene IL2RA condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene IL2 human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Breast neoplasm Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 2 2 1.0000 condition_record_support_limited 20 0 0 Breast_neoplasm 2 low_record_burden_interpretation_limited low_record_burden_gene IL1RAPL1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL1RAPL1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL17RD medgen_c4016983 Hypogonadotropic hypogonadism 18 with anosmia MedGen:C4016983 2 2 1.0000 condition_record_support_limited 20 0 0 Hypogonadotropic_hypogonadism_18_with_anosmia 5 low_record_burden_interpretation_limited low_record_burden_gene IL17RC condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene IL12RB1 il12rb1_related_disorder IL12RB1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 IL12RB1-related_disorder 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL10RB condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene IKZF3 mondo_mondo_0030333_medgen_c5561940_omim_619437_orphanet_697385 Immunodeficiency 84 MONDO:MONDO:0030333,MedGen:C5561940,OMIM:619437,Orphanet:697385 2 2 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_84 2 low_record_burden_interpretation_limited low_record_burden_gene IKZF1 ikzf1_related_disorder IKZF1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 IKZF1-related_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IKBKG mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IKBKB human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 2 2 1.0000 condition_record_support_limited 20 0 0 Severe_combined_immunodeficiency_disease 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGSF3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene IGSF3 mondo_mondo_0007871_medgen_c1835612_omim_149700_orphanet_451612 Familial congenital nasolacrimal duct obstruction MONDO:MONDO:0007871,MedGen:C1835612,OMIM:149700,Orphanet:451612 2 2 1.0000 condition_record_support_limited 20 0 1 Familial_congenital_nasolacrimal_duct_obstruction 3 low_record_burden_interpretation_limited low_record_burden_gene IGSF1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 human_phenotype_ontology_hp_0007269_mondo_mondo_0001516_mesh_d009134_medgen_c0026847_omim_ps253300 Spinal muscular atrophy Human_Phenotype_Ontology:HP:0007269,MONDO:MONDO:0001516,MeSH:D009134,MedGen:C0026847,OMIM:PS253300 2 2 1.0000 condition_record_support_limited 20 0 1 Spinal_muscular_atrophy 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Peripheral neuropathy Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 2 2 1.0000 condition_record_support_limited 20 0 2 Peripheral_neuropathy 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGFBP7 mondo_mondo_0013640_medgen_c3280205_omim_614224_orphanet_284247 Familial retinal arterial macroaneurysm MONDO:MONDO:0013640,MedGen:C3280205,OMIM:614224,Orphanet:284247 2 2 1.0000 condition_record_support_limited 20 0 1 Familial_retinal_arterial_macroaneurysm 2 low_record_burden_interpretation_limited low_record_burden_gene IGF1R monogenic_short_statue Monogenic short statue . 2 2 1.0000 condition_record_support_limited 20 0 0 Monogenic_short_statue 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGF1R human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGF1R igf1r_related_disorder IGF1R-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 IGF1R-related_disorder 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGF1 monogenic_short_statue Monogenic short statue . 2 2 1.0000 condition_record_support_limited 20 0 0 Monogenic_short_statue 10 low_record_burden_interpretation_limited low_record_burden_gene IGF1 mondo_mondo_0012110_medgen_c1837475_omim_608747_orphanet_73272 Growth delay due to insulin-like growth factor type 1 deficiency MONDO:MONDO:0012110,MedGen:C1837475,OMIM:608747,Orphanet:73272 2 2 1.0000 condition_record_support_limited 20 0 0 Growth_delay_due_to_insulin-like_growth_factor_type_1_deficiency 10 low_record_burden_interpretation_limited low_record_burden_gene IFT81 short_rib_thoracic_dysplasia_19_without_polydactyly SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY . 2 2 1.0000 condition_record_support_limited 20 0 2 SHORT-RIB_THORACIC_DYSPLASIA_19_WITHOUT_POLYDACTYLY 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT81 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT80 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT74 mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 Jeune thoracic dystrophy MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 2 2 1.0000 condition_record_support_limited 20 0 1 Jeune_thoracic_dystrophy 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT74 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT57 mondo_mondo_0054770_medgen_c5567903_omim_617927_orphanet_508501 Orofaciodigital syndrome 18 MONDO:MONDO:0054770,MedGen:C5567903,OMIM:617927,Orphanet:508501 2 2 1.0000 condition_record_support_limited 20 0 0 Orofaciodigital_syndrome_18 2 low_record_burden_interpretation_limited low_record_burden_gene IFT52 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene IFT52 mondo_mondo_0015461_medgen_c0036996_orphanet_1505 Short rib-polydactyly syndrome MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505 2 2 1.0000 condition_record_support_limited 20 0 2 Short_rib-polydactyly_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene IFT43 mondo_mondo_0015461_medgen_c0036996_orphanet_1505 Short rib-polydactyly syndrome MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505 2 2 1.0000 condition_record_support_limited 20 0 2 Short_rib-polydactyly_syndrome 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT27 mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 Jeune thoracic dystrophy MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 2 2 1.0000 condition_record_support_limited 20 0 2 Jeune_thoracic_dystrophy 14 low_record_burden_interpretation_limited low_record_burden_gene IFT27 ift27_related_disorder IFT27-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 IFT27-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene IFT27 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 2 2 1.0000 condition_record_support_limited 20 0 2 Bardet-Biedl_syndrome 14 low_record_burden_interpretation_limited low_record_burden_gene IFT172 medgen_c4017085 Short-rib thoracic dysplasia 10 with polydactyly MedGen:C4017085 2 2 1.0000 condition_record_support_limited 20 0 2 Short-rib_thoracic_dysplasia_10_with_polydactyly 157 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture IFT172 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 157 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture IFT140 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_disorder 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT140 medgen_c5679609_orphanet_156168 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene MedGen:C5679609,Orphanet:156168 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_ciliopathy_due_to_mutation_in_the_retinitis_pigmentosa-1_gene 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT140 human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Polycystic kidney disease Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 2 2 1.0000 condition_record_support_limited 20 0 2 Polycystic_kidney_disease 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT140 mondo_mondo_0976269_medgen_c6011237_omim_621180 Cranioectodermal dysplasia 5 MONDO:MONDO:0976269,MedGen:C6011237,OMIM:621180 2 2 1.0000 condition_record_support_limited 20 0 2 Cranioectodermal_dysplasia_5 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT140 mondo_mondo_0009032_medgen_c4551571_omim_ps218330_orphanet_1515 Cranioectodermal dysplasia MONDO:MONDO:0009032,MedGen:C4551571,OMIM:PS218330,Orphanet:1515 2 2 1.0000 condition_record_support_limited 20 0 2 Cranioectodermal_dysplasia 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFNGR1 medgen_c1834752_omim_607948 Mycobacterium tuberculosis, susceptibility to MedGen:C1834752,OMIM:607948 2 2 1.0000 condition_record_support_limited 20 0 2 Mycobacterium_tuberculosis,_susceptibility_to 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFNAR2 mondo_mondo_0014715_medgen_c4225260_omim_616636_orphanet_431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636,Orphanet:431166 2 2 1.0000 condition_record_support_limited 20 0 2 Primary_immunodeficiency_with_post-measles-mumps-rubella_vaccine_viral_infection 13 low_record_burden_interpretation_limited low_record_burden_gene IFITM5 ifitm5_related_disorder IFITM5-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 IFITM5-related_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene IFIH1 ifih1_related_disorder IFIH1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 IFIH1-related_disorder 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDUA human_phenotype_ontology_hp_0006515_medgen_c0206061 Interstitial pneumonitis Human_Phenotype_Ontology:HP:0006515,MedGen:C0206061 2 2 1.0000 condition_record_support_limited 20 0 1 Interstitial_pneumonitis 419 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDS medgen_c0342842 Mucopolysaccharidosis, type II, mild form MedGen:C0342842 2 2 1.0000 condition_record_support_limited 20 0 2 Mucopolysaccharidosis,_type_II,_mild_form 793 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDS mondo_mondo_0016315_medgen_c0342841_orphanet_217085 Mucopolysaccharidosis type 2, severe form MONDO:MONDO:0016315,MedGen:C0342841,Orphanet:217085 2 2 1.0000 condition_record_support_limited 20 0 2 Mucopolysaccharidosis_type_2,_severe_form 793 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDH3G mondo_mondo_0978291_medgen_c6012690_omim_301148 Retinitis pigmentosa 99 MONDO:MONDO:0978291,MedGen:C6012690,OMIM:301148 2 2 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa_99 2 low_record_burden_interpretation_limited low_record_burden_gene IDH2 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene IDH1 mondo_mondo_0024498_medgen_c2750850_omim_137800 Glioma susceptibility 1 MONDO:MONDO:0024498,MedGen:C2750850,OMIM:137800 2 2 1.0000 condition_record_support_limited 20 0 2 Glioma_susceptibility_1 6 low_record_burden_interpretation_limited low_record_burden_gene HYOU1 mondo_mondo_0009305_medgen_c1856263_omim_233600 Granulocytopenia with immunoglobulin abnormality MONDO:MONDO:0009305,MedGen:C1856263,OMIM:233600 2 2 1.0000 condition_record_support_limited 20 0 0 Granulocytopenia_with_immunoglobulin_abnormality 2 low_record_burden_interpretation_limited low_record_burden_gene HYLS1 human_phenotype_ontology_hp_0001561_human_phenotype_ontology_hp_0005098_mondo_mondo_0004585_medgen_c0020224 Polyhydramnios Human_Phenotype_Ontology:HP:0001561,Human_Phenotype_Ontology:HP:0005098,MONDO:MONDO:0004585,MedGen:C0020224 2 2 1.0000 condition_record_support_limited 20 0 2 Polyhydramnios 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HYLS1 human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 2 2 1.0000 condition_record_support_limited 20 0 2 Heart,_malformation_of 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HYLS1 human_phenotype_ontology_hp_0006857_human_phenotype_ontology_hp_0007360_human_phenotype_ontology_hp_0007368_medgen_c3279222 Aplasia/Hypoplasia of the cerebellum Human_Phenotype_Ontology:HP:0006857,Human_Phenotype_Ontology:HP:0007360,Human_Phenotype_Ontology:HP:0007368,MedGen:C3279222 2 2 1.0000 condition_record_support_limited 20 0 2 Aplasia/Hypoplasia_of_the_cerebellum 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HYLS1 human_phenotype_ontology_hp_0004985_human_phenotype_ontology_hp_0006403_human_phenotype_ontology_hp_0006466_medgen_c1837407 Ankle flexion contracture Human_Phenotype_Ontology:HP:0004985,Human_Phenotype_Ontology:HP:0006403,Human_Phenotype_Ontology:HP:0006466,MedGen:C1837407 2 2 1.0000 condition_record_support_limited 20 0 2 Ankle_flexion_contracture 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HYLS1 human_phenotype_ontology_hp_0002323_mondo_mondo_0000819_medgen_c0002902_omim_ps206500 Anencephaly Human_Phenotype_Ontology:HP:0002323,MONDO:MONDO:0000819,MedGen:C0002902,OMIM:PS206500 2 2 1.0000 condition_record_support_limited 20 0 2 Anencephaly 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HYDIN human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 2 2 1.0000 condition_record_support_limited 20 0 0 Primary_ciliary_dyskinesia 66 large_gene_or_donor_burden_stress_case donor_burden_stress HTRA1 mondo_mondo_0018832_medgen_c5568568_orphanet_482077 HTRA1-related autosomal dominant cerebral small vessel disease MONDO:MONDO:0018832,MedGen:C5568568,Orphanet:482077 2 2 1.0000 condition_record_support_limited 20 0 1 HTRA1-related_autosomal_dominant_cerebral_small_vessel_disease 40 compact_adjacent_exon_block_opportunity local_compact_architecture HSPD1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene HSPD1 mondo_mondo_0011532_medgen_c1854467_omim_605280_orphanet_100994 Hereditary spastic paraplegia 13 MONDO:MONDO:0011532,MedGen:C1854467,OMIM:605280,Orphanet:100994 2 2 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia_13 8 low_record_burden_interpretation_limited low_record_burden_gene HSPB1 hspb1_related_axonal_neuropathies HSPB1-related axonal neuropathies . 2 2 1.0000 condition_record_support_limited 20 0 2 HSPB1-related_axonal_neuropathies 39 compact_adjacent_exon_block_opportunity local_compact_architecture HSPA9 mondo_mondo_0014801_medgen_c4225180_omim_616854_orphanet_496751 Even-plus syndrome MONDO:MONDO:0014801,MedGen:C4225180,OMIM:616854,Orphanet:496751 2 2 1.0000 condition_record_support_limited 20 0 0 Even-plus_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene HSF2BP mondo_mondo_0030985_medgen_c5543229_omim_619245 Premature ovarian failure 19 MONDO:MONDO:0030985,MedGen:C5543229,OMIM:619245 2 2 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure_19 2 low_record_burden_interpretation_limited low_record_burden_gene HSD17B3 mondo_mondo_0002145_medgen_c2930619_orphanet_90771 Disorder of sexual differentiation MONDO:MONDO:0002145,MedGen:C2930619,Orphanet:90771 2 2 1.0000 condition_record_support_limited 20 0 0 Disorder_of_sexual_differentiation 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSD11B1 mondo_mondo_0013842_medgen_c3553382_omim_614662_orphanet_168588 Cortisone reductase deficiency 2 MONDO:MONDO:0013842,MedGen:C3553382,OMIM:614662,Orphanet:168588 2 2 1.0000 condition_record_support_limited 20 0 0 Cortisone_reductase_deficiency_2 2 low_record_burden_interpretation_limited low_record_burden_gene HSCB mondo_mondo_0030436_medgen_c5561985_omim_619523 Anemia, sideroblastic, 5 MONDO:MONDO:0030436,MedGen:C5561985,OMIM:619523 2 2 1.0000 condition_record_support_limited 20 0 0 Anemia,_sideroblastic,_5 2 low_record_burden_interpretation_limited low_record_burden_gene HS2ST1 neurofacioskeletal_syndrome_without_renal_agenesis NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS . 2 2 1.0000 condition_record_support_limited 20 0 0 NEUROFACIOSKELETAL_SYNDROME_WITHOUT_RENAL_AGENESIS 6 low_record_burden_interpretation_limited low_record_burden_gene HRG mondo_mondo_0013143_medgen_c2751090_omim_613116_orphanet_217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency MONDO:MONDO:0013143,MedGen:C2751090,OMIM:613116,Orphanet:217467 2 2 1.0000 condition_record_support_limited 20 0 1 Hereditary_thrombophilia_due_to_congenital_histidine-rich_(poly-L)_glycoprotein_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene HRAS vascular_tumors_including_pyogenic_granuloma Vascular Tumors Including Pyogenic Granuloma . 2 2 1.0000 condition_record_support_limited 20 0 2 Vascular_Tumors_Including_Pyogenic_Granuloma 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Rhabdomyosarcoma Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 2 2 1.0000 condition_record_support_limited 20 0 2 Rhabdomyosarcoma 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS mondo_mondo_0012371_medgen_c1860991_omim_609942_orphanet_648 Noonan syndrome 3 MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648 2 2 1.0000 condition_record_support_limited 20 0 1 Noonan_syndrome_3 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 2 2 1.0000 condition_record_support_limited 20 0 2 Cardiovascular_phenotype 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS human_phenotype_ontology_hp_0100026_mesh_d001165_medgen_c0003857 Arteriovenous malformation Human_Phenotype_Ontology:HP:0100026,MeSH:D001165,MedGen:C0003857 2 2 1.0000 condition_record_support_limited 20 0 0 Arteriovenous_malformation 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPSE2 mondo_mondo_0000463_medgen_c0403555_omim_ps236730_orphanet_2704 Ochoa syndrome MONDO:MONDO:0000463,MedGen:C0403555,OMIM:PS236730,Orphanet:2704 2 2 1.0000 condition_record_support_limited 20 0 2 Ochoa_syndrome 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPSE2 mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 2 2 1.0000 condition_record_support_limited 20 0 1 Congenital_anomaly_of_kidney_and_urinary_tract 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 nephrolithiasis_nephrocalcinosis Nephrolithiasis/nephrocalcinosis MedGen:CN580796 2 2 1.0000 condition_record_support_limited 20 0 0 Nephrolithiasis/nephrocalcinosis 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 medgen_c1845892 Lesch-nyhan syndrome, neurologic variant MedGen:C1845892 2 2 1.0000 condition_record_support_limited 20 0 2 Lesch-nyhan_syndrome,_neurologic_variant 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPCA mondo_mondo_0009141_medgen_c1857093_omim_224500_orphanet_99657 Torsion dystonia 2 MONDO:MONDO:0009141,MedGen:C1857093,OMIM:224500,Orphanet:99657 2 2 1.0000 condition_record_support_limited 20 0 0 Torsion_dystonia_2 2 low_record_burden_interpretation_limited low_record_burden_gene HOXD13 mondo_mondo_0012544_medgen_c1853137_omim_610713_orphanet_93409 Brachydactyly-syndactyly syndrome MONDO:MONDO:0012544,MedGen:C1853137,OMIM:610713,Orphanet:93409 2 2 1.0000 condition_record_support_limited 20 0 1 Brachydactyly-syndactyly_syndrome 32 compact_adjacent_exon_block_opportunity local_compact_architecture HOXD13 mondo_mondo_0007223_medgen_c1862102_omim_113300_orphanet_93387 Brachydactyly type E1 MONDO:MONDO:0007223,MedGen:C1862102,OMIM:113300,Orphanet:93387 2 2 1.0000 condition_record_support_limited 20 0 2 Brachydactyly_type_E1 32 compact_adjacent_exon_block_opportunity local_compact_architecture HOXD13 human_phenotype_ontology_hp_0005627_mondo_mondo_0007222_medgen_c0220664_omim_113200 Brachydactyly type D Human_Phenotype_Ontology:HP:0005627,MONDO:MONDO:0007222,MedGen:C0220664,OMIM:113200 2 2 1.0000 condition_record_support_limited 20 0 2 Brachydactyly_type_D 32 compact_adjacent_exon_block_opportunity local_compact_architecture HOXC13 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene HOXC13 mondo_mondo_0013976_medgen_c3554127_omim_614931_orphanet_69084 Ectodermal dysplasia 9, hair/nail type MONDO:MONDO:0013976,MedGen:C3554127,OMIM:614931,Orphanet:69084 2 2 1.0000 condition_record_support_limited 20 0 0 Ectodermal_dysplasia_9,_hair/nail_type 4 low_record_burden_interpretation_limited low_record_burden_gene HOXA2 hoxa2_related_disorder HOXA2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 HOXA2-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene HOXA2 mondo_mondo_0012854_medgen_c2676772_omim_612290_orphanet_140963 Bilateral microtia-deafness-cleft palate syndrome MONDO:MONDO:0012854,MedGen:C2676772,OMIM:612290,Orphanet:140963 2 2 1.0000 condition_record_support_limited 20 0 0 Bilateral_microtia-deafness-cleft_palate_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene HOXA1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene HNRNPUL2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 4 low_record_burden_interpretation_limited low_record_burden_gene HNRNPU heterogeneous_nuclear_ribonucleoprotein_g_human heterogeneous nuclear ribonucleoprotein G, human . 2 2 1.0000 condition_record_support_limited 20 0 0 heterogeneous_nuclear_ribonucleoprotein_G,_human 148 compact_adjacent_exon_block_opportunity local_compact_architecture HNRNPU hnrnpu_related_disorder HNRNPU-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 HNRNPU-related_disorder 148 compact_adjacent_exon_block_opportunity local_compact_architecture HNRNPR mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 8 low_record_burden_interpretation_limited low_record_burden_gene HNRNPDL condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene HNRNPDL mondo_mondo_0012193_medgen_c1836765_omim_609115_orphanet_55596 Autosomal dominant limb-girdle muscular dystrophy type 1G MONDO:MONDO:0012193,MedGen:C1836765,OMIM:609115,Orphanet:55596 2 2 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_limb-girdle_muscular_dystrophy_type_1G 3 low_record_burden_interpretation_limited low_record_burden_gene HNRNPD human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 4 low_record_burden_interpretation_limited low_record_burden_gene HNRNPC condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene HNRNPC mondo_mondo_0958203_medgen_c5882749_omim_620688 Intellectual developmental disorder, autosomal dominant 74 MONDO:MONDO:0958203,MedGen:C5882749,OMIM:620688 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_developmental_disorder,_autosomal_dominant_74 3 low_record_burden_interpretation_limited low_record_burden_gene HNRNPA2B1 mondo_mondo_0014178_medgen_c3809468_omim_615422 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MONDO:MONDO:0014178,MedGen:C3809468,OMIM:615422 2 2 1.0000 condition_record_support_limited 20 0 0 Inclusion_body_myopathy_with_early-onset_Paget_disease_with_or_without_frontotemporal_dementia_2 6 low_record_burden_interpretation_limited low_record_burden_gene HNRNPA1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNRNPA1 mondo_mondo_0005314_medgen_c0751967 Relapsing remitting multiple sclerosis MONDO:MONDO:0005314,MedGen:C0751967 2 2 1.0000 condition_record_support_limited 20 0 0 Relapsing_remitting_multiple_sclerosis 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNRNPA1 mondo_mondo_0014179_medgen_c3809469_omim_615424 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:MONDO:0014179,MedGen:C3809469,OMIM:615424 2 2 1.0000 condition_record_support_limited 20 0 1 Inclusion_body_myopathy_with_early-onset_Paget_disease_with_or_without_frontotemporal_dementia_3 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNMT mondo_mondo_0014759_medgen_c4225220_omim_616739_orphanet_88616 Intellectual disability, autosomal recessive 51 MONDO:MONDO:0014759,MedGen:C4225220,OMIM:616739,Orphanet:88616 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_autosomal_recessive_51 2 low_record_burden_interpretation_limited low_record_burden_gene HNF4A mondo_mondo_0016988_medgen_c4274078_orphanet_263455 Hyperinsulinism due to HNF4A deficiency MONDO:MONDO:0016988,MedGen:C4274078,Orphanet:263455 2 2 1.0000 condition_record_support_limited 20 0 2 Hyperinsulinism_due_to_HNF4A_deficiency 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF4A human_phenotype_ontology_hp_0000842_mondo_mondo_0002177_medgen_c0020459 Hyperinsulinemia Human_Phenotype_Ontology:HP:0000842,MONDO:MONDO:0002177,MedGen:C0020459 2 2 1.0000 condition_record_support_limited 20 0 2 Hyperinsulinemia 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMX1 mondo_mondo_0012802_medgen_c2677500_omim_612109_orphanet_157962 Oculoauricular syndrome MONDO:MONDO:0012802,MedGen:C2677500,OMIM:612109,Orphanet:157962 2 2 1.0000 condition_record_support_limited 20 0 0 Oculoauricular_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene HMGCL hmgcl_related_disorder HMGCL-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 HMGCL-related_disorder 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMGB1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene HMGB1 mondo_mondo_0012374_medgen_c1864965_omim_609945 Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia MONDO:MONDO:0012374,MedGen:C1864965,OMIM:609945 2 2 1.0000 condition_record_support_limited 20 0 0 Brachyphalangy,_polydactyly,_and_tibial_aplasia/hypoplasia 6 low_record_burden_interpretation_limited low_record_burden_gene HMGA2 mondo_mondo_0020796_medgen_c5393125_omim_180860_orphanet_813 Silver-Russell syndrome 1 MONDO:MONDO:0020796,MedGen:C5393125,OMIM:180860,Orphanet:813 2 2 1.0000 condition_record_support_limited 20 0 2 Silver-Russell_syndrome_1 9 low_record_burden_interpretation_limited low_record_burden_gene HMBS human_phenotype_ontology_hp_0002027_medgen_c0000737 Abdominal pain Human_Phenotype_Ontology:HP:0002027,MedGen:C0000737 2 2 1.0000 condition_record_support_limited 20 0 2 Abdominal_pain 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HLCS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 194 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HKDC1 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 1.0000 condition_record_support_limited 20 0 0 Short_stature 6 low_record_burden_interpretation_limited low_record_burden_gene HK1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HK1 hk1_related_disorder HK1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 HK1-related_disorder 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HJV mondo_mondo_0021001_medgen_c3469186_omim_235200_orphanet_465508 Hemochromatosis type 1 MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508 2 2 1.0000 condition_record_support_limited 20 0 2 Hemochromatosis_type_1 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HIVEP2 hivep2_related_disorder HIVEP2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 HIVEP2-related_disorder 74 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture HIVEP2 angelman_syndrome_like Angelman syndrome-like MedGen:CN128785 2 2 1.0000 condition_record_support_limited 20 0 2 Angelman_syndrome-like 74 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture HINT1 human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Peripheral neuropathy Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 2 2 1.0000 condition_record_support_limited 20 0 2 Peripheral_neuropathy 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HINT1 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 2 2 1.0000 condition_record_support_limited 20 0 2 Charcot-Marie-Tooth_disease 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HIKESHI condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene HIF1A mondo_mondo_0013808_medgen_c0024454_omim_614569_orphanet_163634 Maffucci syndrome MONDO:MONDO:0013808,MedGen:C0024454,OMIM:614569,Orphanet:163634 2 2 1.0000 condition_record_support_limited 20 0 0 Maffucci_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene HGSNAT mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HFM1 mondo_mondo_0010052_medgen_c0232981_omim_270960 Spermatogenic failure 4 MONDO:MONDO:0010052,MedGen:C0232981,OMIM:270960 2 2 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_4 16 low_record_burden_interpretation_limited low_record_burden_gene HFM1 medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 2 2 1.0000 condition_record_support_limited 20 0 0 Genetic_non-acquired_premature_ovarian_failure 16 low_record_burden_interpretation_limited low_record_burden_gene HFE mondo_mondo_0008297_medgen_c0162532_omim_176200_orphanet_79473 Variegate porphyria MONDO:MONDO:0008297,MedGen:C0162532,OMIM:176200,Orphanet:79473 2 2 1.0000 condition_record_support_limited 20 0 2 Variegate_porphyria 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HFE medgen_c3280096_omim_614193 TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2 MedGen:C3280096,OMIM:614193 2 2 1.0000 condition_record_support_limited 20 0 2 TRANSFERRIN_SERUM_LEVEL_QUANTITATIVE_TRAIT_LOCUS_2 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HFE mondo_mondo_0012971_medgen_c2673520_omim_612635 Microvascular complications of diabetes, susceptibility to, 7 MONDO:MONDO:0012971,MedGen:C2673520,OMIM:612635 2 2 1.0000 condition_record_support_limited 20 0 2 Microvascular_complications_of_diabetes,_susceptibility_to,_7 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HFE mondo_mondo_0008296_medgen_c0268323_omim_176100_orphanet_101330_orphanet_443062 Familial porphyria cutanea tarda MONDO:MONDO:0008296,MedGen:C0268323,OMIM:176100,Orphanet:101330,Orphanet:443062 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_porphyria_cutanea_tarda 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEXB mondo_mondo_0017722_medgen_c0751491_orphanet_309162 Sandhoff disease, juvenile form MONDO:MONDO:0017722,MedGen:C0751491,Orphanet:309162 2 2 1.0000 condition_record_support_limited 20 0 2 Sandhoff_disease,_juvenile_form 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEXB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEXA medgen_c0268276 GM2-GANGLIOSIDOSIS, JUVENILE MedGen:C0268276 2 2 1.0000 condition_record_support_limited 20 0 2 GM2-GANGLIOSIDOSIS,_JUVENILE 331 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HESX1 mondo_mondo_0024464_medgen_c2751608_omim_613038 Pituitary hormone deficiency, combined, 1 MONDO:MONDO:0024464,MedGen:C2751608,OMIM:613038 2 2 1.0000 condition_record_support_limited 20 0 2 Pituitary_hormone_deficiency,_combined,_1 21 compact_adjacent_exon_block_opportunity local_compact_architecture HERC2 mondo_mondo_0008300_medgen_c0032897_omim_176270_orphanet_739 Prader-Willi syndrome MONDO:MONDO:0008300,MedGen:C0032897,OMIM:176270,Orphanet:739 2 2 1.0000 condition_record_support_limited 20 0 1 Prader-Willi_syndrome 23 large_gene_or_donor_burden_stress_case donor_burden_stress HERC1 megalencephaly_with_thick_corpus_callosum_cerebellar_atrophy_and_intellectual_disability Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability MedGen:CN228136 2 2 1.0000 condition_record_support_limited 20 0 2 Megalencephaly_with_thick_corpus_callosum,_cerebellar_atrophy,_and_intellectual_disability 50 large_gene_or_donor_burden_stress_case donor_burden_stress HERC1 herc1_related_disorder HERC1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 HERC1-related_disorder 50 large_gene_or_donor_burden_stress_case donor_burden_stress HEPHL1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene HENMT1 human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Azoospermia Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 2 2 1.0000 condition_record_support_limited 20 0 0 Azoospermia 2 low_record_burden_interpretation_limited low_record_burden_gene HECW2 hecw2_related_disorder HECW2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 HECW2-related_disorder 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEATR5B heatr5b_associated_pontocerebellar_hypoplasia HEATR5B-associated Pontocerebellar hypoplasia . 2 2 1.0000 condition_record_support_limited 20 0 2 HEATR5B-associated_Pontocerebellar_hypoplasia 3 low_record_burden_interpretation_limited low_record_burden_gene HEATR5B mesh_c580383_medgen_c0266468 Congenital pontocerebellar hypoplasia MeSH:C580383,MedGen:C0266468 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_pontocerebellar_hypoplasia 3 low_record_burden_interpretation_limited low_record_burden_gene HEATR3 human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Diamond-Blackfan anemia Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 2 2 1.0000 condition_record_support_limited 20 0 2 Diamond-Blackfan_anemia 5 low_record_burden_interpretation_limited low_record_burden_gene HDAC4 mondo_mondo_0010886_medgen_c2931817_omim_600430_orphanet_1001 Chromosome 2q37 deletion syndrome MONDO:MONDO:0010886,MedGen:C2931817,OMIM:600430,Orphanet:1001 2 2 1.0000 condition_record_support_limited 20 0 2 Chromosome_2q37_deletion_syndrome 12 low_record_burden_interpretation_limited low_record_burden_gene HDAC3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 2 low_record_burden_interpretation_limited low_record_burden_gene HCN1 hcn1_related_disorder HCN1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 HCN1-related_disorder 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HCN1 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 2 2 1.0000 condition_record_support_limited 20 0 2 Epileptic_encephalopathy 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HCFC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 13 low_record_burden_interpretation_limited low_record_burden_gene HCFC1 disorders_of_intracellular_cobalamin_metabolism Disorders of Intracellular Cobalamin Metabolism MedGen:CN043592 2 2 1.0000 condition_record_support_limited 20 0 2 Disorders_of_Intracellular_Cobalamin_Metabolism 13 low_record_burden_interpretation_limited low_record_burden_gene HCCS condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene HBQ1 mondo_mondo_0011399_medgen_c0002312_omim_604131_orphanet_846 alpha Thalassemia MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846 2 2 1.0000 condition_record_support_limited 20 0 0 alpha_Thalassemia 2 low_record_burden_interpretation_limited low_record_burden_gene HBD condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene HBD medgen_c0271991 Delta-0-thalassemia MedGen:C0271991 2 2 1.0000 condition_record_support_limited 20 0 0 Delta-0-thalassemia 14 low_record_burden_interpretation_limited low_record_burden_gene HBB mondo_mondo_0016669_mesh_d006450_medgen_c0019034_orphanet_251365 Sickle cell-hemoglobin C disease MONDO:MONDO:0016669,MeSH:D006450,MedGen:C0019034,Orphanet:251365 2 2 1.0000 condition_record_support_limited 20 0 2 Sickle_cell-hemoglobin_C_disease 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB human_phenotype_ontology_hp_0001878_human_phenotype_ontology_hp_0001910_human_phenotype_ontology_hp_0004827_human_phenotype_ontology_hp_0004853_human_phenotype_ontology_hp_0004868_human_phenotype_ontology_hp_0005503_mondo_mondo_0003664_medgen_c0002878 Hemolytic anemia Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878 2 2 1.0000 condition_record_support_limited 20 0 1 Hemolytic_anemia 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_e_beta_thalassemia Hemoglobin E/beta- thalassemia . 2 2 1.0000 condition_record_support_limited 20 0 2 Hemoglobin_E/beta-_thalassemia 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB human_phenotype_ontology_hp_0001903_human_phenotype_ontology_hp_0001926_human_phenotype_ontology_hp_0003136_human_phenotype_ontology_hp_0005509_mondo_mondo_0002280_medgen_c0002871 Anemia Human_Phenotype_Ontology:HP:0001903,Human_Phenotype_Ontology:HP:0001926,Human_Phenotype_Ontology:HP:0003136,Human_Phenotype_Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871 2 2 1.0000 condition_record_support_limited 20 0 2 Anemia 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBA2 hba2_related_disorder HBA2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 HBA2-related_disorder 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 medgen_c1456873 Alpha-thalassemia, Dutch type MedGen:C1456873 2 2 1.0000 condition_record_support_limited 20 0 1 Alpha-thalassemia,_Dutch_type 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HARS2 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 2 2 1.0000 condition_record_support_limited 20 0 0 Sensorineural_hearing_loss_disorder 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HARS2 mondo_mondo_0017312_medgen_c0685838_omim_ps233400_orphanet_2855 Perrault syndrome MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855 2 2 1.0000 condition_record_support_limited 20 0 2 Perrault_syndrome 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HARS1 human_phenotype_ontology_hp_0001295_human_phenotype_ontology_hp_0001309_human_phenotype_ontology_hp_0001337_medgen_c0040822 Tremor Human_Phenotype_Ontology:HP:0001295,Human_Phenotype_Ontology:HP:0001309,Human_Phenotype_Ontology:HP:0001337,MedGen:C0040822 2 2 1.0000 condition_record_support_limited 20 0 2 Tremor 10 low_record_burden_interpretation_limited low_record_burden_gene HARS1 human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Peripheral neuropathy Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 2 2 1.0000 condition_record_support_limited 20 0 2 Peripheral_neuropathy 10 low_record_burden_interpretation_limited low_record_burden_gene HARS1 human_phenotype_ontology_hp_0000628_human_phenotype_ontology_hp_0000657_human_phenotype_ontology_hp_0007764_medgen_c3489733 Oculomotor apraxia Human_Phenotype_Ontology:HP:0000628,Human_Phenotype_Ontology:HP:0000657,Human_Phenotype_Ontology:HP:0007764,MedGen:C3489733 2 2 1.0000 condition_record_support_limited 20 0 2 Oculomotor_apraxia 10 low_record_burden_interpretation_limited low_record_burden_gene HARS1 human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 2 2 1.0000 condition_record_support_limited 20 0 2 Nystagmus 10 low_record_burden_interpretation_limited low_record_burden_gene HARS1 human_phenotype_ontology_hp_0001310_medgen_c0234162 Dysmetria Human_Phenotype_Ontology:HP:0001310,MedGen:C0234162 2 2 1.0000 condition_record_support_limited 20 0 2 Dysmetria 10 low_record_burden_interpretation_limited low_record_burden_gene HARS1 human_phenotype_ontology_hp_0001266_human_phenotype_ontology_hp_0002469_human_phenotype_ontology_hp_0006811_human_phenotype_ontology_hp_0007028_human_phenotype_ontology_hp_0007337_medgen_c0085583 Choreoathetosis Human_Phenotype_Ontology:HP:0001266,Human_Phenotype_Ontology:HP:0002469,Human_Phenotype_Ontology:HP:0006811,Human_Phenotype_Ontology:HP:0007028,Human_Phenotype_Ontology:HP:0007337,MedGen:C0085583 2 2 1.0000 condition_record_support_limited 20 0 2 Choreoathetosis 10 low_record_burden_interpretation_limited low_record_burden_gene HARS1 human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Cerebellar atrophy Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 2 2 1.0000 condition_record_support_limited 20 0 2 Cerebellar_atrophy 10 low_record_burden_interpretation_limited low_record_burden_gene HAMP mondo_mondo_0006507_medgen_c0392514_omim_ps235200 Hereditary hemochromatosis MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200 2 2 1.0000 condition_record_support_limited 20 0 2 Hereditary_hemochromatosis 8 low_record_burden_interpretation_limited low_record_burden_gene HADHA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 238 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HADH condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HADH human_phenotype_ontology_hp_0000825_mondo_mondo_0005803_medgen_c1864903_omim_ps256450_orphanet_443095 Hyperinsulinemic hypoglycemia Human_Phenotype_Ontology:HP:0000825,MONDO:MONDO:0005803,MedGen:C1864903,OMIM:PS256450,Orphanet:443095 2 2 1.0000 condition_record_support_limited 20 0 2 Hyperinsulinemic_hypoglycemia 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HAAO condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene H6PD condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene H4C9 mondo_mondo_0031000_medgen_c5677016_omim_619951 Tessadori-Van Haaften neurodevelopmental syndrome 4 MONDO:MONDO:0031000,MedGen:C5677016,OMIM:619951 2 2 1.0000 condition_record_support_limited 20 0 0 Tessadori-Van_Haaften_neurodevelopmental_syndrome_4 2 low_record_burden_interpretation_limited low_record_burden_gene H4C11 mondo_mondo_0030730_medgen_c5676923_omim_619759 Tessadori-van Haaften neurodevelopmental syndrome 2 MONDO:MONDO:0030730,MedGen:C5676923,OMIM:619759 2 2 1.0000 condition_record_support_limited 20 0 0 Tessadori-van_Haaften_neurodevelopmental_syndrome_2 2 low_record_burden_interpretation_limited low_record_burden_gene H3-3A h3f3a_related_disorder H3F3A-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 H3F3A-related_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture H3-3A h3_3a_related_disorder H3-3A-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 H3-3A-related_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture H2BC12 mondo_mondo_0031000_medgen_c5677016_omim_619951 Tessadori-Van Haaften neurodevelopmental syndrome 4 MONDO:MONDO:0031000,MedGen:C5677016,OMIM:619951 2 2 1.0000 condition_record_support_limited 20 0 0 Tessadori-Van_Haaften_neurodevelopmental_syndrome_4 2 low_record_burden_interpretation_limited low_record_burden_gene GYS2 mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 Glycogen storage disease MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 2 2 1.0000 condition_record_support_limited 20 0 2 Glycogen_storage_disease 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GYS1 gys1_related_disorder GYS1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 GYS1-related_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUSB mondo_mondo_0009661_medgen_c0026709_omim_253200_orphanet_583 Mucopolysaccharidosis type 6 MONDO:MONDO:0009661,MedGen:C0026709,OMIM:253200,Orphanet:583 2 2 1.0000 condition_record_support_limited 20 0 2 Mucopolysaccharidosis_type_6 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2D human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2D mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2D early_onset_retinal_dystrophy Early-onset retinal dystrophy . 2 2 1.0000 condition_record_support_limited 20 0 1 Early-onset_retinal_dystrophy 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2D medgen_c5680331_orphanet_98676 Autosomal recessive optic atrophy MedGen:C5680331,Orphanet:98676 2 2 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_optic_atrophy 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY1A1 mondo_mondo_0009649_medgen_c2931384_omim_252350_orphanet_2573 Moyamoya disease 1 MONDO:MONDO:0009649,MedGen:C2931384,OMIM:252350,Orphanet:2573 2 2 1.0000 condition_record_support_limited 20 0 2 Moyamoya_disease_1 14 low_record_burden_interpretation_limited low_record_burden_gene GUCA1A human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCA1A mondo_mondo_0800326_medgen_cn322944 Cone-rod dystrophy 14 MONDO:MONDO:0800326,MedGen:CN322944 2 2 1.0000 condition_record_support_limited 20 0 2 Cone-rod_dystrophy_14 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCA1A human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 2 2 1.0000 condition_record_support_limited 20 0 2 Cone-rod_dystrophy 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GTSF1 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 2 2 1.0000 condition_record_support_limited 20 0 0 Male_infertility 2 low_record_burden_interpretation_limited low_record_burden_gene GTPBP3 gtpbp3_related_disorder GTPBP3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 GTPBP3-related_disorder 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GTF2E2 mondo_mondo_0014841_medgen_c4310785_omim_616943_orphanet_33364 Trichothiodystrophy 6, nonphotosensitive MONDO:MONDO:0014841,MedGen:C4310785,OMIM:616943,Orphanet:33364 2 2 1.0000 condition_record_support_limited 20 0 0 Trichothiodystrophy_6,_nonphotosensitive 2 low_record_burden_interpretation_limited low_record_burden_gene GSK3B condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided|not_specified 3 low_record_burden_interpretation_limited low_record_burden_gene GRXCR2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene GRXCR1 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 2 2 1.0000 condition_record_support_limited 20 0 2 Rare_genetic_deafness 17 low_record_burden_interpretation_limited low_record_burden_gene GRXCR1 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 2 Hearing_loss,_autosomal_recessive 17 low_record_burden_interpretation_limited low_record_burden_gene GRWD1 mondo_mondo_0976266_medgen_c6012711_omim_621160 Diarrhea 14, congenital MONDO:MONDO:0976266,MedGen:C6012711,OMIM:621160 2 2 1.0000 condition_record_support_limited 20 0 2 Diarrhea_14,_congenital 2 low_record_burden_interpretation_limited low_record_burden_gene GRWD1 mondo_mondo_0000824_medgen_c6013449_omim_ps214700 Congenital diarrhea MONDO:MONDO:0000824,MedGen:C6013449,OMIM:PS214700 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_diarrhea 2 low_record_burden_interpretation_limited low_record_burden_gene GRN adult_onset_neurodegenerative_disorder Adult onset neurodegenerative disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 Adult_onset_neurodegenerative_disorder 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRM7 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene GRM7 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 10 low_record_burden_interpretation_limited low_record_burden_gene GRM7 human_phenotype_ontology_hp_0003429_medgen_c4025616 CNS hypomyelination Human_Phenotype_Ontology:HP:0003429,MedGen:C4025616 2 2 1.0000 condition_record_support_limited 20 0 2 CNS_hypomyelination 10 low_record_burden_interpretation_limited low_record_burden_gene GRM6 grm6_related_disorder GRM6-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 GRM6-related_disorder 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIP1 mondo_mondo_0054737_medgen_c4551480_omim_219000_orphanet_2052 Fraser syndrome 1 MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052 2 2 1.0000 condition_record_support_limited 20 0 1 Fraser_syndrome_1 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B human_phenotype_ontology_hp_0100716_medgen_c0085271 Self-injurious behavior Human_Phenotype_Ontology:HP:0100716,MedGen:C0085271 2 2 1.0000 condition_record_support_limited 20 0 2 Self-injurious_behavior 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 2 Seizure 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 2 Microcephaly 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B human_phenotype_ontology_hp_0001251_human_phenotype_ontology_hp_0001253_human_phenotype_ontology_hp_0002513_human_phenotype_ontology_hp_0007050_human_phenotype_ontology_hp_0007157_medgen_c0004134 Ataxia Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MedGen:C0004134 2 2 1.0000 condition_record_support_limited 20 0 2 Ataxia 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIK2 human_phenotype_ontology_hp_0011344_medgen_c1837397 Severe global developmental delay Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 2 2 1.0000 condition_record_support_limited 20 0 2 Severe_global_developmental_delay 13 low_record_burden_interpretation_limited low_record_burden_gene GRIK2 human_phenotype_ontology_hp_0030890_medgen_c2938912 Hyperintensity of cerebral white matter on MRI Human_Phenotype_Ontology:HP:0030890,MedGen:C2938912 2 2 1.0000 condition_record_support_limited 20 0 2 Hyperintensity_of_cerebral_white_matter_on_MRI 13 low_record_burden_interpretation_limited low_record_burden_gene GRID2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 10 low_record_burden_interpretation_limited low_record_burden_gene GRIA4 condition_not_provided condition not provided . 2 2 1.0000 condition_record_support_limited 20 2 0 See_cases 11 low_record_burden_interpretation_limited low_record_burden_gene GRIA3 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 1 Seizure 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIA3 gria3_related_disorder GRIA3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 GRIA3-related_disorder 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIA2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIA1 mondo_mondo_0030968_medgen_c5677007_omim_619931 Intellectual developmental disorder, autosomal recessive 76 MONDO:MONDO:0030968,MedGen:C5677007,OMIM:619931 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_developmental_disorder,_autosomal_recessive_76 8 low_record_burden_interpretation_limited low_record_burden_gene GRHPR human_phenotype_ontology_hp_0000102_human_phenotype_ontology_hp_0000787_mondo_mondo_0008171_medgen_c0392525 Nephrolithiasis Human_Phenotype_Ontology:HP:0000102,Human_Phenotype_Ontology:HP:0000787,MONDO:MONDO:0008171,MedGen:C0392525 2 2 1.0000 condition_record_support_limited 20 0 2 Nephrolithiasis 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRHPR human_phenotype_ontology_hp_0000121_mondo_mondo_0001567_medgen_c0027709 Nephrocalcinosis Human_Phenotype_Ontology:HP:0000121,MONDO:MONDO:0001567,MedGen:C0027709 2 2 1.0000 condition_record_support_limited 20 0 2 Nephrocalcinosis 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRHPR grhpr_related_disorder GRHPR-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 GRHPR-related_disorder 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRHL3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRHL2 mondo_mondo_0014460_medgen_c4014987_omim_616029_orphanet_423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome MONDO:MONDO:0014460,MedGen:C4014987,OMIM:616029,Orphanet:423454 2 2 1.0000 condition_record_support_limited 20 0 1 Nail_and_teeth_abnormalities-marginal_palmoplantar_keratoderma-oral_hyperpigmentation_syndrome 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRHL2 mondo_mondo_0054832_medgen_c4747961_omim_618031 Corneal dystrophy, posterior polymorphous, 4 MONDO:MONDO:0054832,MedGen:C4747961,OMIM:618031 2 2 1.0000 condition_record_support_limited 20 0 2 Corneal_dystrophy,_posterior_polymorphous,_4 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GREB1L mondo_mondo_0010989_medgen_c4305568_omim_601076_orphanet_2578_orphanet_3109 Mayer-Rokitansky-Küster-Hauser syndrome type 2 MONDO:MONDO:0010989,MedGen:C4305568,OMIM:601076,Orphanet:2578,Orphanet:3109 2 2 1.0000 condition_record_support_limited 20 0 0 Mayer-Rokitansky-Küster-Hauser_syndrome_type_2 86 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture GREB1L mondo_mondo_0017771_medgen_c0431648_orphanet_247775_orphanet_3109 Mayer-Rokitansky-Kuster-Hauser syndrome MONDO:MONDO:0017771,MedGen:C0431648,Orphanet:247775,Orphanet:3109 2 2 1.0000 condition_record_support_limited 20 0 2 Mayer-Rokitansky-Kuster-Hauser_syndrome 86 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture GREB1L medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 2 2 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 86 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture GREB1L medgen_c4231418 Inner ear malformation MedGen:C4231418 2 2 1.0000 condition_record_support_limited 20 0 2 Inner_ear_malformation 86 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture GPT2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 18 low_record_burden_interpretation_limited low_record_burden_gene GPRC5B mondo_mondo_0957533_medgen_c5830625_omim_620447 Megalencephalic leukoencephalopathy with subcortical cysts 3 MONDO:MONDO:0957533,MedGen:C5830625,OMIM:620447 2 2 1.0000 condition_record_support_limited 20 0 0 Megalencephalic_leukoencephalopathy_with_subcortical_cysts_3 2 low_record_burden_interpretation_limited low_record_burden_gene GPRASP2 mondo_mondo_0044702_medgen_c4746975_omim_301018_orphanet_500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MONDO:MONDO:0044702,MedGen:C4746975,OMIM:301018,Orphanet:500188 2 2 1.0000 condition_record_support_limited 20 0 0 X-linked_external_auditory_canal_atresia-dilated_internal_auditory_canal-facial_dysmorphism_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene GPR179 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy 45 compact_adjacent_exon_block_opportunity local_compact_architecture GPR179 human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 2 2 1.0000 condition_record_support_limited 20 0 2 Optic_atrophy 45 compact_adjacent_exon_block_opportunity local_compact_architecture GPR179 human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Congenital stationary night blindness Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_stationary_night_blindness 45 compact_adjacent_exon_block_opportunity local_compact_architecture GPR161 human_phenotype_ontology_hp_0002885_mondo_mondo_0007959_mesh_d008527_medgen_c0025149_omim_155255_orphanet_616 Medulloblastoma Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616 2 2 1.0000 condition_record_support_limited 20 0 0 Medulloblastoma 2 low_record_burden_interpretation_limited low_record_burden_gene GPR156 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 2 Hearing_loss,_autosomal_recessive 5 low_record_burden_interpretation_limited low_record_burden_gene GPR143 human_phenotype_ontology_hp_0001107_human_phenotype_ontology_hp_0007745_human_phenotype_ontology_hp_0007837_mondo_mondo_0017304_mesh_d016117_medgen_c0078917_orphanet_284804 Ocular albinism Human_Phenotype_Ontology:HP:0001107,Human_Phenotype_Ontology:HP:0007745,Human_Phenotype_Ontology:HP:0007837,MONDO:MONDO:0017304,MeSH:D016117,MedGen:C0078917,Orphanet:284804 2 2 1.0000 condition_record_support_limited 20 0 1 Ocular_albinism 112 compact_adjacent_exon_block_opportunity local_compact_architecture GPR143 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 112 compact_adjacent_exon_block_opportunity local_compact_architecture GPR143 human_phenotype_ontology_hp_0001022_mondo_mondo_0043209_medgen_c0001916 Albinism Human_Phenotype_Ontology:HP:0001022,MONDO:MONDO:0043209,MedGen:C0001916 2 2 1.0000 condition_record_support_limited 20 0 1 Albinism 112 compact_adjacent_exon_block_opportunity local_compact_architecture GPNMB condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene GPNMB gpnmb_related_disorder GPNMB-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 GPNMB-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene GPHN mondo_mondo_0800348_medgen_c3150208 Retinitis pigmentosa 53 MONDO:MONDO:0800348,MedGen:C3150208 2 2 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa_53 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPHN mondo_mondo_0060724_medgen_c4747891_omim_618010 Glycosylphosphatidylinositol biosynthesis defect 17 MONDO:MONDO:0060724,MedGen:C4747891,OMIM:618010 2 2 1.0000 condition_record_support_limited 20 0 0 Glycosylphosphatidylinositol_biosynthesis_defect_17 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPHN human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_eye 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPD1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPC6 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene GPC6 mondo_mondo_0009779_medgen_c1850318_omim_258315_orphanet_2733_orphanet_93329 Autosomal recessive omodysplasia MONDO:MONDO:0009779,MedGen:C1850318,OMIM:258315,Orphanet:2733,Orphanet:93329 2 2 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_omodysplasia 4 low_record_burden_interpretation_limited low_record_burden_gene GPC3 gpc3_related_disorder GPC3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 GPC3-related_disorder 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP1BB macrothrombocytopenia_familial_bernard_soulier_type MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE MedGen:CN071127 2 2 1.0000 condition_record_support_limited 20 0 1 MACROTHROMBOCYTOPENIA,_FAMILIAL,_BERNARD-SOULIER_TYPE 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP1BA gp1ba_related_disorder GP1BA-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 GP1BA-related_disorder 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP1BA human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_bleeding 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GOSR2 human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Muscular dystrophy Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 2 2 1.0000 condition_record_support_limited 20 0 2 Muscular_dystrophy 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GOSR2 gosr2_related_disorder GOSR2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 GOSR2-related_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GON7 mondo_mondo_0030471_medgen_c5562016_omim_619603 Galloway-Mowat syndrome 9 MONDO:MONDO:0030471,MedGen:C5562016,OMIM:619603 2 2 1.0000 condition_record_support_limited 20 0 1 Galloway-Mowat_syndrome_9 2 low_record_burden_interpretation_limited low_record_burden_gene GON4L mondo_mondo_0978303_medgen_c6012727_omim_621212 Li-Takada-Miyake syndrome MONDO:MONDO:0978303,MedGen:C6012727,OMIM:621212 2 2 1.0000 condition_record_support_limited 20 0 0 Li-Takada-Miyake_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene GNRHR pituitary_hormone_deficiency Pituitary hormone deficiency . 2 2 1.0000 condition_record_support_limited 20 0 2 Pituitary_hormone_deficiency 43 compact_adjacent_exon_block_opportunity local_compact_architecture GNRHR mondo_mondo_0016553_medgen_c5679849_orphanet_238666 Isolated congenital hypogonadotropic hypogonadism MONDO:MONDO:0016553,MedGen:C5679849,Orphanet:238666 2 2 1.0000 condition_record_support_limited 20 0 2 Isolated_congenital_hypogonadotropic_hypogonadism 43 compact_adjacent_exon_block_opportunity local_compact_architecture GNRHR gnrhr_related_disorder GNRHR-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 GNRHR-related_disorder 43 compact_adjacent_exon_block_opportunity local_compact_architecture GNRHR human_phenotype_ontology_hp_0000141_mondo_mondo_0001836_medgen_c0002453 Amenorrhea Human_Phenotype_Ontology:HP:0000141,MONDO:MONDO:0001836,MedGen:C0002453 2 2 1.0000 condition_record_support_limited 20 0 2 Amenorrhea 43 compact_adjacent_exon_block_opportunity local_compact_architecture GNRH1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene GNRH1 mondo_mondo_0013914_medgen_c1856897_omim_614841_orphanet_432 Hypogonadotropic hypogonadism 12 with or without anosmia MONDO:MONDO:0013914,MedGen:C1856897,OMIM:614841,Orphanet:432 2 2 1.0000 condition_record_support_limited 20 0 1 Hypogonadotropic_hypogonadism_12_with_or_without_anosmia 3 low_record_burden_interpretation_limited low_record_burden_gene GNPTG human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Rod-cone dystrophy Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 2 2 1.0000 condition_record_support_limited 20 0 2 Rod-cone_dystrophy 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNPTG human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNPTG mondo_mondo_0019248_medgen_c0026697_orphanet_79212 Mucolipidosis MONDO:MONDO:0019248,MedGen:C0026697,Orphanet:79212 2 2 1.0000 condition_record_support_limited 20 0 1 Mucolipidosis 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNPTAB human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 2 2 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 436 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNPAT mondo_mondo_0015776_medgen_c0282529_omim_ps215100_orphanet_177 Rhizomelic chondrodysplasia punctata MONDO:MONDO:0015776,MedGen:C0282529,OMIM:PS215100,Orphanet:177 2 2 1.0000 condition_record_support_limited 20 0 2 Rhizomelic_chondrodysplasia_punctata 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNMT mondo_mondo_0011698_medgen_c1847720_omim_606664_orphanet_289891 Glycine N-methyltransferase deficiency MONDO:MONDO:0011698,MedGen:C1847720,OMIM:606664,Orphanet:289891 2 2 1.0000 condition_record_support_limited 20 0 0 Glycine_N-methyltransferase_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene GNE mondo_mondo_0012286_medgen_c2931230_omim_609500 Myopathy, autophagic vacuolar, infantile-onset MONDO:MONDO:0012286,MedGen:C2931230,OMIM:609500 2 2 1.0000 condition_record_support_limited 20 0 2 Myopathy,_autophagic_vacuolar,_infantile-onset 223 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNE mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 223 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNE gne_related_disorder GNE-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 GNE-related_disorder 223 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB5 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB3 mondo_mondo_0014872_medgen_c4310758_omim_617024 Congenital stationary night blindness 1H MONDO:MONDO:0014872,MedGen:C4310758,OMIM:617024 2 2 1.0000 condition_record_support_limited 20 0 0 Congenital_stationary_night_blindness_1H 2 low_record_burden_interpretation_limited low_record_burden_gene GNB1 human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 2 2 1.0000 condition_record_support_limited 20 0 2 Nystagmus 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_delay 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0002540_medgen_c0560046 Inability to walk Human_Phenotype_Ontology:HP:0002540,MedGen:C0560046 2 2 1.0000 condition_record_support_limited 20 0 2 Inability_to_walk 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 2 2 1.0000 condition_record_support_limited 20 0 2 Dystonic_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0002376_human_phenotype_ontology_hp_0002471_human_phenotype_ontology_hp_0002489_human_phenotype_ontology_hp_0006797_human_phenotype_ontology_hp_0006828_human_phenotype_ontology_hp_0006854_human_phenotype_ontology_hp_0007037_human_phenotype_ontology_hp_0007242_human_phenotype_ontology_hp_0007247_medgen_c1836830 Developmental regression Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830 2 2 1.0000 condition_record_support_limited 20 0 2 Developmental_regression 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0000595_human_phenotype_ontology_hp_0100704_medgen_c4048268_orphanet_447788 Cerebral visual impairment Human_Phenotype_Ontology:HP:0000595,Human_Phenotype_Ontology:HP:0100704,MedGen:C4048268,Orphanet:447788 2 2 1.0000 condition_record_support_limited 20 0 2 Cerebral_visual_impairment 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0001306_human_phenotype_ontology_hp_0002069_human_phenotype_ontology_hp_0002407_human_phenotype_ontology_hp_0007252_medgen_c0494475 Bilateral tonic-clonic seizure Human_Phenotype_Ontology:HP:0001306,Human_Phenotype_Ontology:HP:0002069,Human_Phenotype_Ontology:HP:0002407,Human_Phenotype_Ontology:HP:0007252,MedGen:C0494475 2 2 1.0000 condition_record_support_limited 20 0 2 Bilateral_tonic-clonic_seizure 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAT1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAT1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAT1 mondo_mondo_0013183_medgen_c2750747_omim_613216_orphanet_215 Congenital stationary night blindness 1C MONDO:MONDO:0013183,MedGen:C2750747,OMIM:613216,Orphanet:215 2 2 1.0000 condition_record_support_limited 20 0 0 Congenital_stationary_night_blindness_1C 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS mondo_mondo_0006055_medgen_c0206724 Sex cord-stromal tumor MONDO:MONDO:0006055,MedGen:C0206724 2 2 1.0000 condition_record_support_limited 20 0 2 Sex_cord-stromal_tumor 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS mondo_mondo_0018912_medgen_c0010481_orphanet_189427 Cushing syndrome MONDO:MONDO:0018912,MedGen:C0010481,Orphanet:189427 2 2 1.0000 condition_record_support_limited 20 0 2 Cushing_syndrome 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAQ segmental_undergrowth_associated_with_capillary_malformation Segmental undergrowth associated with capillary malformation . 2 2 1.0000 condition_record_support_limited 20 0 1 Segmental_undergrowth_associated_with_capillary_malformation 8 low_record_burden_interpretation_limited low_record_burden_gene GNAO1 human_phenotype_ontology_hp_0001294_human_phenotype_ontology_hp_0100022_mondo_mondo_0005395_medgen_c0026650 Movement disorder Human_Phenotype_Ontology:HP:0001294,Human_Phenotype_Ontology:HP:0100022,MONDO:MONDO:0005395,MedGen:C0026650 2 2 1.0000 condition_record_support_limited 20 0 1 Movement_disorder 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAO1 mondo_mondo_0035660_medgen_c5680303_orphanet_592564 GNAO1-related developmental delay-seizures-movement disorder spectrum MONDO:MONDO:0035660,MedGen:C5680303,Orphanet:592564 2 2 1.0000 condition_record_support_limited 20 0 2 GNAO1-related_developmental_delay-seizures-movement_disorder_spectrum 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAO1 human_phenotype_ontology_hp_0100660_medgen_c0013384 Dyskinesia Human_Phenotype_Ontology:HP:0100660,MedGen:C0013384 2 2 1.0000 condition_record_support_limited 20 0 2 Dyskinesia 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAO1 mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 2 2 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAO1 human_phenotype_ontology_hp_0002072_human_phenotype_ontology_hp_0002397_mondo_mondo_0001595_medgen_c0008489_orphanet_1429 Chorea Human_Phenotype_Ontology:HP:0002072,Human_Phenotype_Ontology:HP:0002397,MONDO:MONDO:0001595,MedGen:C0008489,Orphanet:1429 2 2 1.0000 condition_record_support_limited 20 0 2 Chorea 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAO1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_nervous_system 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAI2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene GMPPB mondo_mondo_0018276_medgen_c5679911_orphanet_370953 Muscular dystrophy-dystroglycanopathy MONDO:MONDO:0018276,MedGen:C5679911,Orphanet:370953 2 2 1.0000 condition_record_support_limited 20 0 2 Muscular_dystrophy-dystroglycanopathy 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GMPPB human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Muscular dystrophy Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 2 2 1.0000 condition_record_support_limited 20 0 2 Muscular_dystrophy 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GMPPA gmppa_related_disorder GMPPA-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 GMPPA-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene GLYCTK condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene GLUL condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene GLI3 mondo_mondo_0019674_medgen_c1868120_orphanet_93335 Postaxial polydactyly type B MONDO:MONDO:0019674,MedGen:C1868120,Orphanet:93335 2 2 1.0000 condition_record_support_limited 20 0 1 Postaxial_polydactyly_type_B 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI1 gli1_related_disorder GLI1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 GLI1-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene GLE1 gle1_related_disorder GLE1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 GLE1-related_disorder 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLDN human_phenotype_ontology_hp_0002828_medgen_c0158118 Multiple joint contractures Human_Phenotype_Ontology:HP:0002828,MedGen:C0158118 2 2 1.0000 condition_record_support_limited 20 0 2 Multiple_joint_contractures 26 compact_adjacent_exon_block_opportunity local_compact_architecture GLDN gldn_related_disorder GLDN-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 GLDN-related_disorder 26 compact_adjacent_exon_block_opportunity local_compact_architecture GLDN human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 2 2 1.0000 condition_record_support_limited 20 0 1 Fetal_akinesia_deformation_sequence_1 26 compact_adjacent_exon_block_opportunity local_compact_architecture GJC2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJC2 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_nervous_system 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 mondo_mondo_0014675_medgen_c4225298_omim_616515_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 104 MONDO:MONDO:0014675,MedGen:C4225298,OMIM:616515,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_nonsyndromic_hearing_loss_104 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 1.0000 condition_record_support_limited 20 0 2 Autism_spectrum_disorder 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA5 mondo_mondo_0007171_medgen_c4551959_omim_108770_orphanet_1344 Atrial standstill 1 MONDO:MONDO:0007171,MedGen:C4551959,OMIM:108770,Orphanet:1344 2 2 1.0000 condition_record_support_limited 20 0 2 Atrial_standstill_1 7 low_record_burden_interpretation_limited low_record_burden_gene GJA1 mondo_mondo_0008514_medgen_c1861366_omim_186100_orphanet_93404 Syndactyly type 3 MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100,Orphanet:93404 2 2 1.0000 condition_record_support_limited 20 0 1 Syndactyly_type_3 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA1 mondo_mondo_0033013_medgen_c4479619_omim_617525 Erythrokeratodermia variabilis et progressiva 3 MONDO:MONDO:0033013,MedGen:C4479619,OMIM:617525 2 2 1.0000 condition_record_support_limited 20 0 2 Erythrokeratodermia_variabilis_et_progressiva_3 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA1 mondo_mondo_0007083_medgen_c4304669_omim_104100_orphanet_1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia MONDO:MONDO:0007083,MedGen:C4304669,OMIM:104100,Orphanet:1010 2 2 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_palmoplantar_keratoderma_and_congenital_alopecia 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GINS3 meier_gorlin_syndrome_9 MEIER-GORLIN SYNDROME 9 MedGen:CN380877,OMIM:621512 2 2 1.0000 condition_record_support_limited 20 0 0 MEIER-GORLIN_SYNDROME_9 2 low_record_burden_interpretation_limited low_record_burden_gene GINS1 mondo_mondo_0044725_medgen_c5568132_omim_617827_orphanet_505227 Combined immunodeficiency due to GINS1 deficiency MONDO:MONDO:0044725,MedGen:C5568132,OMIM:617827,Orphanet:505227 2 2 1.0000 condition_record_support_limited 20 0 0 Combined_immunodeficiency_due_to_GINS1_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene GHRHR pituitary_hormone_deficiency Pituitary hormone deficiency . 2 2 1.0000 condition_record_support_limited 20 0 0 Pituitary_hormone_deficiency 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GHR medgen_c4016705 Laron syndrome with elevated serum GH-binding protein MedGen:C4016705 2 2 1.0000 condition_record_support_limited 20 0 0 Laron_syndrome_with_elevated_serum_GH-binding_protein 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GH1 medgen_c0342381 Idiopathic growth hormone deficiency MedGen:C0342381 2 2 1.0000 condition_record_support_limited 20 0 2 Idiopathic_growth_hormone_deficiency 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GGN mondo_mondo_0030732_medgen_c5676960_omim_619826 Spermatogenic failure 69 MONDO:MONDO:0030732,MedGen:C5676960,OMIM:619826 2 2 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_69 2 low_record_burden_interpretation_limited low_record_burden_gene GGCX ggcx_related_disorders GGCX - Related Disorders . 2 2 1.0000 condition_record_support_limited 20 0 2 GGCX_-_Related_Disorders 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GGA3 mondo_mondo_0032580_medgen_c4748545_omim_618176 Nephrotic syndrome, type 17 MONDO:MONDO:0032580,MedGen:C4748545,OMIM:618176 2 2 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome,_type_17 2 low_record_burden_interpretation_limited low_record_burden_gene GFPT1 mondo_mondo_0012157_medgen_c1837091_omim_608931_orphanet_590 Congenital myasthenic syndrome 4C MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orphanet:590 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_myasthenic_syndrome_4C 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GFM2 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_disease 15 low_record_burden_interpretation_limited low_record_burden_gene GFM1 mondo_mondo_0000732_medgen_c4540031_omim_ps609060 Combined oxidative phosphorylation deficiency MONDO:MONDO:0000732,MedGen:C4540031,OMIM:PS609060 2 2 1.0000 condition_record_support_limited 20 0 2 Combined_oxidative_phosphorylation_deficiency 202 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GFI1B condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene GFER mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 8 low_record_burden_interpretation_limited low_record_burden_gene GDI1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene GDI1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 15 low_record_burden_interpretation_limited low_record_burden_gene GDF6 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene GDF5 mondo_mondo_0012893_medgen_c4759728_omim_612400 Osteoarthritis susceptibility 5 MONDO:MONDO:0012893,MedGen:C4759728,OMIM:612400 2 2 1.0000 condition_record_support_limited 20 0 2 Osteoarthritis_susceptibility_5 52 compact_adjacent_exon_block_opportunity local_compact_architecture GDF5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 52 compact_adjacent_exon_block_opportunity local_compact_architecture GDF5 gdf5_related_disorder GDF5-related disorder MedGen:CN169990 2 2 1.0000 condition_record_support_limited 20 0 2 GDF5-related_disorder 52 compact_adjacent_exon_block_opportunity local_compact_architecture GDF5 mondo_mondo_0008717_medgen_c2930970_omim_201250_orphanet_968 Acromesomelic dysplasia 2C, Hunter-Thompson type MONDO:MONDO:0008717,MedGen:C2930970,OMIM:201250,Orphanet:968 2 2 1.0000 condition_record_support_limited 20 0 2 Acromesomelic_dysplasia_2C,_Hunter-Thompson_type 52 compact_adjacent_exon_block_opportunity local_compact_architecture GDF3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene GDF1 mondo_mondo_0014545_medgen_c5190825_omim_616230_orphanet_424027 Progressive myoclonic epilepsy type 8 MONDO:MONDO:0014545,MedGen:C5190825,OMIM:616230,Orphanet:424027 2 2 1.0000 condition_record_support_limited 20 0 0 Progressive_myoclonic_epilepsy_type_8 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDAP2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene GDAP1 medgen_c4016973 Neuropathy, axonal, with vocal cord paresis, autosomal recessive MedGen:C4016973 2 2 1.0000 condition_record_support_limited 20 0 1 Neuropathy,_axonal,_with_vocal_cord_paresis,_autosomal_recessive 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCSH gcsh_related_disorder GCSH-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 GCSH-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene GCNT2 human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 2 2 1.0000 condition_record_support_limited 20 0 0 Developmental_cataract 12 low_record_burden_interpretation_limited low_record_burden_gene GCNT2 medgen_c1292164 ADULT i BLOOD GROUP PHENOTYPE MedGen:C1292164 2 2 1.0000 condition_record_support_limited 20 0 0 ADULT_i_BLOOD_GROUP_PHENOTYPE 12 low_record_burden_interpretation_limited low_record_burden_gene GCNA human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 2 2 1.0000 condition_record_support_limited 20 0 2 Non-obstructive_azoospermia 4 low_record_burden_interpretation_limited low_record_burden_gene GCLC mondo_mondo_0009259_medgen_c1856603_omim_230450_orphanet_33574 Gamma-glutamylcysteine synthetase deficiency MONDO:MONDO:0009259,MedGen:C1856603,OMIM:230450,Orphanet:33574 2 2 1.0000 condition_record_support_limited 20 0 0 Gamma-glutamylcysteine_synthetase_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene GCK mondo_mondo_0010894_medgen_c1838100_omim_600496_orphanet_552 Maturity-onset diabetes of the young type 3 MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552 2 2 1.0000 condition_record_support_limited 20 0 2 Maturity-onset_diabetes_of_the_young_type_3 655 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCH1 mondo_mondo_0100098_medgen_cn322657 Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive MONDO:MONDO:0100098,MedGen:CN322657 2 2 1.0000 condition_record_support_limited 20 0 0 Dystonia,_dopa-responsive,_with_or_without_hyperphenylalaninemia,_autosomal_recessive 113 compact_adjacent_exon_block_opportunity local_compact_architecture GCDH glutaric_acidaemia_i_newborn_screening_follow_up Glutaric acidaemia I newborn screening follow up . 2 2 1.0000 condition_record_support_limited 20 0 2 Glutaric_acidaemia_I_newborn_screening_follow_up 324 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBF1 pitx3_related_disorder PITX3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 PITX3-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene GBF1 medgen_c3807150 Cataract 11, posterior polar MedGen:C3807150 2 2 1.0000 condition_record_support_limited 20 0 2 Cataract_11,_posterior_polar 13 low_record_burden_interpretation_limited low_record_burden_gene GBF1 mondo_mondo_0007138_medgen_c4551992_omim_107250 Anterior segment dysgenesis 1 MONDO:MONDO:0007138,MedGen:C4551992,OMIM:107250 2 2 1.0000 condition_record_support_limited 20 0 2 Anterior_segment_dysgenesis_1 13 low_record_burden_interpretation_limited low_record_burden_gene GBE1 mondo_mondo_0017697_medgen_c1856303_orphanet_308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form MONDO:MONDO:0017697,MedGen:C1856303,Orphanet:308655 2 2 1.0000 condition_record_support_limited 20 0 2 Glycogen_storage_disease_due_to_glycogen_branching_enzyme_deficiency,_fatal_perinatal_neuromuscular_form 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBE1 mondo_mondo_0017700_medgen_c1856305_orphanet_308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form MONDO:MONDO:0017700,MedGen:C1856305,Orphanet:308698 2 2 1.0000 condition_record_support_limited 20 0 2 Glycogen_storage_disease_due_to_glycogen_branching_enzyme_deficiency,_childhood_neuromuscular_form 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBE1 medgen_c4017114 Glycogen storage disease IV, nonprogressive hepatic MedGen:C4017114 2 2 1.0000 condition_record_support_limited 20 0 2 Glycogen_storage_disease_IV,_nonprogressive_hepatic 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBE1 medgen_c4017116 Glycogen storage disease IV, combined hepatic and myopathic MedGen:C4017116 2 2 1.0000 condition_record_support_limited 20 0 1 Glycogen_storage_disease_IV,_combined_hepatic_and_myopathic 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA2 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 2 2 1.0000 condition_record_support_limited 20 0 2 Hereditary_spastic_paraplegia 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATB medgen_c3532239 Cardiomyopathy, mitochondrial MedGen:C3532239 2 2 1.0000 condition_record_support_limited 20 0 2 Cardiomyopathy,_mitochondrial 4 low_record_burden_interpretation_limited low_record_burden_gene GATAD2B gatad2b_related_disorder GATAD2B-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 GATAD2B-related_disorder 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA6 human_phenotype_ontology_hp_0001660_mondo_mondo_0018072_medgen_c0041207_orphanet_3384 Persistent truncus arteriosus Human_Phenotype_Ontology:HP:0001660,MONDO:MONDO:0018072,MedGen:C0041207,Orphanet:3384 2 2 1.0000 condition_record_support_limited 20 0 1 Persistent_truncus_arteriosus 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA6 gata6_related_disorder GATA6-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 GATA6-related_disorder 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA6 mondo_mondo_0013770_medgen_c3280943_omim_614475_orphanet_1478 Atrial septal defect 9 MONDO:MONDO:0013770,MedGen:C3280943,OMIM:614475,Orphanet:1478 2 2 1.0000 condition_record_support_limited 20 0 2 Atrial_septal_defect_9 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 109 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA1 medgen_c4016508 Thrombocytopenia, X-linked, without dyserythropoietic anemia MedGen:C4016508 2 2 1.0000 condition_record_support_limited 20 0 2 Thrombocytopenia,_X-linked,_without_dyserythropoietic_anemia 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA1 medgen_c4016507 Thrombocytopenia, X-linked, with dyserythropoietic anemia MedGen:C4016507 2 2 1.0000 condition_record_support_limited 20 0 2 Thrombocytopenia,_X-linked,_with_dyserythropoietic_anemia 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA1 mondo_mondo_0008608_medgen_c0013080_omim_190685_orphanet_870 Down syndrome MONDO:MONDO:0008608,MedGen:C0013080,OMIM:190685,Orphanet:870 2 2 1.0000 condition_record_support_limited 20 0 2 Down_syndrome 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAS2 mondo_mondo_0971152_medgen_c5935633_omim_620877 Hearing loss, autosomal recessive 125 MONDO:MONDO:0971152,MedGen:C5935633,OMIM:620877 2 2 1.0000 condition_record_support_limited 20 0 0 Hearing_loss,_autosomal_recessive_125 2 low_record_burden_interpretation_limited low_record_burden_gene GARIN5A mondo_mondo_0031011_medgen_c5543268_omim_619264 Neurodevelopmental disorder with dysmorphic facies and variable seizures MONDO:MONDO:0031011,MedGen:C5543268,OMIM:619264 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_dysmorphic_facies_and_variable_seizures 2 low_record_burden_interpretation_limited low_record_burden_gene GAREM2 hadha_related_disorder HADHA-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 HADHA-related_disorder 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GANAB human_phenotype_ontology_hp_0001080_mondo_mondo_0004868_medgen_c0549613 Biliary tract abnormality Human_Phenotype_Ontology:HP:0001080,MONDO:MONDO:0004868,MedGen:C0549613 2 2 1.0000 condition_record_support_limited 20 0 2 Biliary_tract_abnormality 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALNT2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene GALNS human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Skeletal dysplasia Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 2 2 1.0000 condition_record_support_limited 20 0 2 Skeletal_dysplasia 299 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALK1 mondo_mondo_0009180_medgen_c0268374_omim_226650_orphanet_251393_orphanet_79402_orphanet_79405_orphanet_89840 Junctional epidermolysis bullosa, non-Herlitz type MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840 2 2 1.0000 condition_record_support_limited 20 0 2 Junctional_epidermolysis_bullosa,_non-Herlitz_type 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALK1 itgb4_related_disorder ITGB4-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 ITGB4-related_disorder 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALK1 galk1_related_disorder GALK1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 GALK1-related_disorder 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALK1 mondo_mondo_0007551_medgen_c0080333_omim_131800_orphanet_79400 Epidermolysis bullosa simplex 1C, localized MONDO:MONDO:0007551,MedGen:C0080333,OMIM:131800,Orphanet:79400 2 2 1.0000 condition_record_support_limited 20 0 2 Epidermolysis_bullosa_simplex_1C,_localized 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 2 2 1.0000 condition_record_support_limited 20 0 2 Strabismus 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC human_phenotype_ontology_hp_0002133_medgen_c0038220 Status epilepticus Human_Phenotype_Ontology:HP:0002133,MedGen:C0038220 2 2 1.0000 condition_record_support_limited 20 0 2 Status_epilepticus 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 2 2 1.0000 condition_record_support_limited 20 0 1 Spastic_ataxia 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC human_phenotype_ontology_hp_0001422_human_phenotype_ontology_hp_0001518_human_phenotype_ontology_hp_0008849_human_phenotype_ontology_hp_0008919_human_phenotype_ontology_hp_0008927_medgen_c0235991 Small for gestational age Human_Phenotype_Ontology:HP:0001422,Human_Phenotype_Ontology:HP:0001518,Human_Phenotype_Ontology:HP:0008849,Human_Phenotype_Ontology:HP:0008919,Human_Phenotype_Ontology:HP:0008927,MedGen:C0235991 2 2 1.0000 condition_record_support_limited 20 0 2 Small_for_gestational_age 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 2 Seizure 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC human_phenotype_ontology_hp_0000529_human_phenotype_ontology_hp_0000560_human_phenotype_ontology_hp_0007735_human_phenotype_ontology_hp_0007753_human_phenotype_ontology_hp_0007967_medgen_c1839364 Progressive visual loss Human_Phenotype_Ontology:HP:0000529,Human_Phenotype_Ontology:HP:0000560,Human_Phenotype_Ontology:HP:0007735,Human_Phenotype_Ontology:HP:0007753,Human_Phenotype_Ontology:HP:0007967,MedGen:C1839364 2 2 1.0000 condition_record_support_limited 20 0 2 Progressive_visual_loss 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 2 2 1.0000 condition_record_support_limited 20 0 2 Nystagmus 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC human_phenotype_ontology_hp_0001998_medgen_c0158986 Neonatal hypoglycemia Human_Phenotype_Ontology:HP:0001998,MedGen:C0158986 2 2 1.0000 condition_record_support_limited 20 0 2 Neonatal_hypoglycemia 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC human_phenotype_ontology_hp_0002505_human_phenotype_ontology_hp_0006957_medgen_c1836843 Loss of ambulation Human_Phenotype_Ontology:HP:0002505,Human_Phenotype_Ontology:HP:0006957,MedGen:C1836843 2 2 1.0000 condition_record_support_limited 20 0 2 Loss_of_ambulation 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Leukodystrophy Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 2 2 1.0000 condition_record_support_limited 20 0 2 Leukodystrophy 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC human_phenotype_ontology_hp_0001269_medgen_c0018989 Hemiparesis Human_Phenotype_Ontology:HP:0001269,MedGen:C0018989 2 2 1.0000 condition_record_support_limited 20 0 2 Hemiparesis 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC human_phenotype_ontology_hp_0001511_human_phenotype_ontology_hp_0001515_human_phenotype_ontology_hp_0008862_human_phenotype_ontology_hp_0008892_human_phenotype_ontology_hp_0008931_mondo_mondo_0005030_medgen_c0015934 Fetal growth restriction Human_Phenotype_Ontology:HP:0001511,Human_Phenotype_Ontology:HP:0001515,Human_Phenotype_Ontology:HP:0008862,Human_Phenotype_Ontology:HP:0008892,Human_Phenotype_Ontology:HP:0008931,MONDO:MONDO:0005030,MedGen:C0015934 2 2 1.0000 condition_record_support_limited 20 0 2 Fetal_growth_restriction 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC human_phenotype_ontology_hp_0003482_medgen_c4025609 EMG: axonal abnormality Human_Phenotype_Ontology:HP:0003482,MedGen:C4025609 2 2 1.0000 condition_record_support_limited 20 0 2 EMG:_axonal_abnormality 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC human_phenotype_ontology_hp_0002177_human_phenotype_ontology_hp_0003457_human_phenotype_ontology_hp_0003751_human_phenotype_ontology_hp_0003753_human_phenotype_ontology_hp_0100286_medgen_c0476403 EMG abnormality Human_Phenotype_Ontology:HP:0002177,Human_Phenotype_Ontology:HP:0003457,Human_Phenotype_Ontology:HP:0003751,Human_Phenotype_Ontology:HP:0003753,Human_Phenotype_Ontology:HP:0100286,MedGen:C0476403 2 2 1.0000 condition_record_support_limited 20 0 2 EMG_abnormality 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC human_phenotype_ontology_hp_0001346_human_phenotype_ontology_hp_0002353_human_phenotype_ontology_hp_0002429_human_phenotype_ontology_hp_0006841_medgen_c0151611 EEG abnormality Human_Phenotype_Ontology:HP:0001346,Human_Phenotype_Ontology:HP:0002353,Human_Phenotype_Ontology:HP:0002429,Human_Phenotype_Ontology:HP:0006841,MedGen:C0151611 2 2 1.0000 condition_record_support_limited 20 0 2 EEG_abnormality 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC human_phenotype_ontology_hp_0006978_medgen_c3278204 Dysmyelinating leukodystrophy Human_Phenotype_Ontology:HP:0006978,MedGen:C3278204 2 2 1.0000 condition_record_support_limited 20 0 2 Dysmyelinating_leukodystrophy 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC human_phenotype_ontology_hp_0002376_human_phenotype_ontology_hp_0002471_human_phenotype_ontology_hp_0002489_human_phenotype_ontology_hp_0006797_human_phenotype_ontology_hp_0006828_human_phenotype_ontology_hp_0006854_human_phenotype_ontology_hp_0007037_human_phenotype_ontology_hp_0007242_human_phenotype_ontology_hp_0007247_medgen_c1836830 Developmental regression Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830 2 2 1.0000 condition_record_support_limited 20 0 2 Developmental_regression 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC human_phenotype_ontology_hp_0001623_medgen_c0006157 Breech presentation Human_Phenotype_Ontology:HP:0001623,MedGen:C0006157 2 2 1.0000 condition_record_support_limited 20 0 2 Breech_presentation 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC human_phenotype_ontology_hp_0000646_mondo_mondo_0001020_medgen_c0002418 Amblyopia Human_Phenotype_Ontology:HP:0000646,MONDO:MONDO:0001020,MedGen:C0002418 2 2 1.0000 condition_record_support_limited 20 0 2 Amblyopia 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRG2 mondo_mondo_0007295_medgen_c0376532_orphanet_1945 Self-limited epilepsy with centrotemporal spikes MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 2 2 1.0000 condition_record_support_limited 20 0 2 Self-limited_epilepsy_with_centrotemporal_spikes 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRG2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRG2 gabrg2_related_disorder GABRG2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 GABRG2-related_disorder 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRG2 mondo_mondo_0020300_medgen_c3696898_orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy MONDO:MONDO:0020300,MedGen:C3696898,Orphanet:98784 2 2 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_nocturnal_frontal_lobe_epilepsy 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRB3 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_delay 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRB3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRB2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 1 Seizure 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRA1 mondo_mondo_0009696_medgen_c0270853_omim_ps254770_orphanet_307 Juvenile myoclonic epilepsy MONDO:MONDO:0009696,MedGen:C0270853,OMIM:PS254770,Orphanet:307 2 2 1.0000 condition_record_support_limited 20 0 0 Juvenile_myoclonic_epilepsy 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRA1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_deficient_hemolytic_anemia G6PD deficient hemolytic anemia . 2 2 1.0000 condition_record_support_limited 20 0 2 G6PD_deficient_hemolytic_anemia 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PC1 mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 Glycogen storage disease MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 2 2 1.0000 condition_record_support_limited 20 0 2 Glycogen_storage_disease 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FZD6 mondo_mondo_0002884_medgen_c0027339 Nail disease MONDO:MONDO:0002884,MedGen:C0027339 2 2 1.0000 condition_record_support_limited 20 0 2 Nail_disease 7 low_record_burden_interpretation_limited low_record_burden_gene FZD4 mondo_mondo_0010269_medgen_c5964756_omim_300216_orphanet_190 Coats disease MONDO:MONDO:0010269,MedGen:C5964756,OMIM:300216,Orphanet:190 2 2 1.0000 condition_record_support_limited 20 0 2 Coats_disease 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FYCO1 susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 2 2 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FYB1 mondo_mondo_0010120_medgen_c2678311_omim_273900_orphanet_268322 Thrombocytopenia 3 MONDO:MONDO:0010120,MedGen:C2678311,OMIM:273900,Orphanet:268322 2 2 1.0000 condition_record_support_limited 20 0 0 Thrombocytopenia_3 2 low_record_burden_interpretation_limited low_record_burden_gene FXR1 mondo_mondo_0032937_medgen_c5394193_omim_618823 Myopathy, congenital proximal, with minicore lesions MONDO:MONDO:0032937,MedGen:C5394193,OMIM:618823 2 2 1.0000 condition_record_support_limited 20 0 0 Myopathy,_congenital_proximal,_with_minicore_lesions 4 low_record_burden_interpretation_limited low_record_burden_gene FUT1 medgen_c1859408_omim_616754 Bombay phenotype MedGen:C1859408,OMIM:616754 2 2 1.0000 condition_record_support_limited 20 0 1 Bombay_phenotype 6 low_record_burden_interpretation_limited low_record_burden_gene FUS mondo_mondo_0017593_medgen_c3468114_orphanet_300605 Juvenile amyotrophic lateral sclerosis MONDO:MONDO:0017593,MedGen:C3468114,Orphanet:300605 2 2 1.0000 condition_record_support_limited 20 0 1 Juvenile_amyotrophic_lateral_sclerosis 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FUCA1 fuca1_related_disorder FUCA1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 FUCA1-related_disorder 87 compact_adjacent_exon_block_opportunity local_compact_architecture FTO mondo_mondo_0013050_medgen_c2752001_omim_612938_orphanet_210144 Lethal polymalformative syndrome, Boissel type MONDO:MONDO:0013050,MedGen:C2752001,OMIM:612938,Orphanet:210144 2 2 1.0000 condition_record_support_limited 20 0 1 Lethal_polymalformative_syndrome,_Boissel_type 3 low_record_burden_interpretation_limited low_record_burden_gene FTL mondo_mondo_0014274_medgen_c3810090_omim_615604_orphanet_440731 L-ferritin deficiency MONDO:MONDO:0014274,MedGen:C3810090,OMIM:615604,Orphanet:440731 2 2 1.0000 condition_record_support_limited 20 0 2 L-ferritin_deficiency 31 compact_adjacent_exon_block_opportunity local_compact_architecture FTH1 mondo_mondo_0700238_medgen_cn375913 BEST1-related dominant retinopathy MONDO:MONDO:0700238,MedGen:CN375913 2 2 1.0000 condition_record_support_limited 20 0 2 BEST1-related_dominant_retinopathy 11 low_record_burden_interpretation_limited low_record_burden_gene FTH1 mondo_mondo_0008662_medgen_c3888099_omim_193220_orphanet_263347_orphanet_3086 Autosomal dominant vitreoretinochoroidopathy MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220,Orphanet:263347,Orphanet:3086 2 2 1.0000 condition_record_support_limited 20 0 2 Autosomal_dominant_vitreoretinochoroidopathy 11 low_record_burden_interpretation_limited low_record_burden_gene FTCD mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FSIP2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 21 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FSIP2 fsip2_related_disorder FSIP2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 FSIP2-related_disorder 21 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FSHR medgen_c0220761_omim_276400 Dizygotic twins MedGen:C0220761,OMIM:276400 2 2 1.0000 condition_record_support_limited 20 0 2 Dizygotic_twins 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FRRS1L frrs1l_related_disorder FRRS1L-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 FRRS1L-related_disorder 39 compact_adjacent_exon_block_opportunity local_compact_architecture FRMD5 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene FOXRED1 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 2 2 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_disease 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP4 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene FOXP3 human_phenotype_ontology_hp_0001789_mondo_mondo_0015193_medgen_c0020305_orphanet_1041 Hydrops fetalis Human_Phenotype_Ontology:HP:0001789,MONDO:MONDO:0015193,MedGen:C0020305,Orphanet:1041 2 2 1.0000 condition_record_support_limited 20 0 1 Hydrops_fetalis 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP1 medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 2 2 1.0000 condition_record_support_limited 20 0 2 Rare_genetic_intellectual_disability 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP1 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 2 2 1.0000 condition_record_support_limited 20 0 1 Autism 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXN1 mondo_mondo_0009451_medgen_c0152094_omim_242700_orphanet_83471 T-lymphocyte deficiency MONDO:MONDO:0009451,MedGen:C0152094,OMIM:242700,Orphanet:83471 2 2 1.0000 condition_record_support_limited 20 0 2 T-lymphocyte_deficiency 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXJ1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene FOXI3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene FOXI3 mondo_mondo_0958175_medgen_c3495417_omim_164210_orphanet_374 Craniofacial microsomia 1 MONDO:MONDO:0958175,MedGen:C3495417,OMIM:164210,Orphanet:374 2 2 1.0000 condition_record_support_limited 20 0 1 Craniofacial_microsomia_1 8 low_record_burden_interpretation_limited low_record_burden_gene FOXG1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 278 single_exon_hotspot_opportunity local_compact_architecture FOXC2 human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 2 2 1.0000 condition_record_support_limited 20 0 1 Non-immune_hydrops_fetalis 57 single_exon_hotspot_opportunity local_compact_architecture FOXC2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 57 single_exon_hotspot_opportunity local_compact_architecture FOXC1 mondo_mondo_0007180_medgen_c1862373_omim_109120 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities MONDO:MONDO:0007180,MedGen:C1862373,OMIM:109120 2 2 1.0000 condition_record_support_limited 20 0 1 Axenfeld-Rieger_anomaly_with_partially_absent_eye_muscles,_distinctive_face,_hydrocephaly,_and_skeletal_abnormalities 150 single_exon_hotspot_opportunity local_compact_architecture FMR1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLNC mondo_mondo_0800371_medgen_c4310748 Cardiomyopathy, familial restrictive, 5 MONDO:MONDO:0800371,MedGen:C4310748 2 2 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy,_familial_restrictive,_5 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNB mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 2 2 1.0000 condition_record_support_limited 20 0 1 Connective_tissue_disorder 153 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA human_phenotype_ontology_hp_0004392_mondo_mondo_0007032_medgen_c0033770_omim_100100_orphanet_2970 Prune belly syndrome Human_Phenotype_Ontology:HP:0004392,MONDO:MONDO:0007032,MedGen:C0033770,OMIM:100100,Orphanet:2970 2 2 1.0000 condition_record_support_limited 20 0 0 Prune_belly_syndrome 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA human_phenotype_ontology_hp_0001643_mondo_mondo_0011827_medgen_c0013274_omim_ps607411 Patent ductus arteriosus Human_Phenotype_Ontology:HP:0001643,MONDO:MONDO:0011827,MedGen:C0013274,OMIM:PS607411 2 2 1.0000 condition_record_support_limited 20 0 2 Patent_ductus_arteriosus 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA mondo_mondo_0018233_medgen_c2748918_orphanet_364541 Otopalatodigital syndrome spectrum disorder MONDO:MONDO:0018233,MedGen:C2748918,Orphanet:364541 2 2 1.0000 condition_record_support_limited 20 0 0 Otopalatodigital_syndrome_spectrum_disorder 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA flna_related_lung_disease FLNA related lung disease . 2 2 1.0000 condition_record_support_limited 20 0 1 FLNA_related_lung_disease 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA attenuated_frontometaphyseal_dysplasia Attenuated frontometaphyseal dysplasia . 2 2 1.0000 condition_record_support_limited 20 0 0 Attenuated_frontometaphyseal_dysplasia 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLI1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene FLG2 mondo_mondo_0054852_medgen_c4748093_omim_618084 Peeling skin syndrome 6 MONDO:MONDO:0054852,MedGen:C4748093,OMIM:618084 2 2 1.0000 condition_record_support_limited 20 0 1 Peeling_skin_syndrome_6 4 low_record_burden_interpretation_limited low_record_burden_gene FLG ichthyosis_and_erythrokeratoderma Ichthyosis and erythrokeratoderma . 2 2 1.0000 condition_record_support_limited 20 0 2 Ichthyosis_and_erythrokeratoderma 246 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLCN mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 425 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FLCN multiple_monogenic_benign_skin_tumours Multiple monogenic benign skin tumours . 2 2 1.0000 condition_record_support_limited 20 0 2 Multiple_monogenic_benign_skin_tumours 425 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FLCN mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 2 2 1.0000 condition_record_support_limited 20 0 2 Carcinoma_of_colon 425 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FKRP mondo_mondo_0018276_medgen_c5679911_orphanet_370953 Muscular dystrophy-dystroglycanopathy MONDO:MONDO:0018276,MedGen:C5679911,Orphanet:370953 2 2 1.0000 condition_record_support_limited 20 0 2 Muscular_dystrophy-dystroglycanopathy 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP fkrp_related_disorder FKRP-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 FKRP-related_disorder 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_musculature 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKBP14 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 20 compact_adjacent_exon_block_opportunity local_compact_architecture FHOD3 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 2 2 1.0000 condition_record_support_limited 20 0 0 Cardiovascular_phenotype 5 low_record_burden_interpretation_limited low_record_burden_gene FH human_phenotype_ontology_hp_0007507_human_phenotype_ontology_hp_0007620_mondo_mondo_0003291_medgen_c0346064 Cutaneous leiomyoma Human_Phenotype_Ontology:HP:0007507,Human_Phenotype_Ontology:HP:0007620,MONDO:MONDO:0003291,MedGen:C0346064 2 2 1.0000 condition_record_support_limited 20 0 2 Cutaneous_leiomyoma 482 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FGG autosomal_dominant_fgg_related_disorders Autosomal dominant FGG-related disorders . 2 2 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_FGG-related_disorders 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0031287_mondo_mondo_0008420_medgen_c0022603_omim_182000 Seborrheic keratosis Human_Phenotype_Ontology:HP:0031287,MONDO:MONDO:0008420,MedGen:C0022603,OMIM:182000 2 2 1.0000 condition_record_support_limited 20 0 2 Seborrheic_keratosis 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_delay 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 2 2 1.0000 condition_record_support_limited 20 0 2 Multiple_myeloma 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 2 2 1.0000 condition_record_support_limited 20 0 2 Craniosynostosis_syndrome 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Endometrial carcinoma Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 2 2 1.0000 condition_record_support_limited 20 0 2 Endometrial_carcinoma 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 2 2 1.0000 condition_record_support_limited 20 0 2 Craniosynostosis_syndrome 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 human_phenotype_ontology_hp_0002654_mondo_mondo_0016648_medgen_c0026760_omim_ps132400_orphanet_251 Multiple epiphyseal dysplasia Human_Phenotype_Ontology:HP:0002654,MONDO:MONDO:0016648,MedGen:C0026760,OMIM:PS132400,Orphanet:251 2 2 1.0000 condition_record_support_limited 20 0 0 Multiple_epiphyseal_dysplasia 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 human_phenotype_ontology_hp_0001360_human_phenotype_ontology_hp_0009807_mondo_mondo_0016296_medgen_c0079541_omim_ps236100_orphanet_2162 Holoprosencephaly sequence Human_Phenotype_Ontology:HP:0001360,Human_Phenotype_Ontology:HP:0009807,MONDO:MONDO:0016296,MedGen:C0079541,OMIM:PS236100,Orphanet:2162 2 2 1.0000 condition_record_support_limited 20 0 1 Holoprosencephaly_sequence 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGF8 human_phenotype_ontology_hp_0002507_mondo_mondo_0700419_medgen_c0751617_orphanet_220386 Semilobar holoprosencephaly Human_Phenotype_Ontology:HP:0002507,MONDO:MONDO:0700419,MedGen:C0751617,Orphanet:220386 2 2 1.0000 condition_record_support_limited 20 0 1 Semilobar_holoprosencephaly 18 low_record_burden_interpretation_limited low_record_burden_gene FGF23 mondo_mondo_0100252_medgen_c4692564_omim_211900_orphanet_53715 Tumoral calcinosis, hyperphosphatemic, familial, 1 MONDO:MONDO:0100252,MedGen:C4692564,OMIM:211900,Orphanet:53715 2 2 1.0000 condition_record_support_limited 20 0 2 Tumoral_calcinosis,_hyperphosphatemic,_familial,_1 13 low_record_burden_interpretation_limited low_record_burden_gene FGF20 mondo_mondo_0014319_medgen_c3810359_omim_615721_orphanet_411709 Renal hypodysplasia/aplasia 2 MONDO:MONDO:0014319,MedGen:C3810359,OMIM:615721,Orphanet:411709 2 2 1.0000 condition_record_support_limited 20 0 0 Renal_hypodysplasia/aplasia_2 2 low_record_burden_interpretation_limited low_record_burden_gene FGF14 mondo_mondo_0012247_medgen_c1836383_orphanet_98764 Spinocerebellar ataxia type 27 MONDO:MONDO:0012247,MedGen:C1836383,Orphanet:98764 2 2 1.0000 condition_record_support_limited 20 0 2 Spinocerebellar_ataxia_type_27 18 low_record_burden_interpretation_limited low_record_burden_gene FGF14 mondo_mondo_0859340_medgen_c5774278_omim_620174_orphanet_675216 Spinocerebellar ataxia 27B, late-onset MONDO:MONDO:0859340,MedGen:C5774278,OMIM:620174,Orphanet:675216 2 2 1.0000 condition_record_support_limited 20 0 0 Spinocerebellar_ataxia_27B,_late-onset 18 low_record_burden_interpretation_limited low_record_burden_gene FGF14 fgf14_related_disorder FGF14-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 FGF14-related_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene FGF13 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene FGD4 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 2 2 1.0000 condition_record_support_limited 20 0 2 Charcot-Marie-Tooth_disease 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGD1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGB human_phenotype_ontology_hp_0011900_medgen_c0553681 Hypofibrinogenemia Human_Phenotype_Ontology:HP:0011900,MedGen:C0553681 2 2 1.0000 condition_record_support_limited 20 0 2 Hypofibrinogenemia 17 low_record_burden_interpretation_limited low_record_burden_gene FGB fgb_related_disorder FGB-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 FGB-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene FGA human_phenotype_ontology_hp_0011901_medgen_c1260903 Dysfibrinogenemia Human_Phenotype_Ontology:HP:0011901,MedGen:C1260903 2 2 1.0000 condition_record_support_limited 20 0 2 Dysfibrinogenemia 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FEZF2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene FEZF1 medgen_c4017302 Hypogonadotropic hypogonadism 22 with anosmia MedGen:C4017302 2 2 1.0000 condition_record_support_limited 20 0 0 Hypogonadotropic_hypogonadism_22_with_anosmia 2 low_record_burden_interpretation_limited low_record_burden_gene FECH mondo_mondo_0019263_medgen_cn283243_orphanet_79278 Autosomal erythropoietic protoporphyria MONDO:MONDO:0019263,MedGen:CN283243,Orphanet:79278 2 2 1.0000 condition_record_support_limited 20 0 0 Autosomal_erythropoietic_protoporphyria 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FDXR fdxr_related_disorder FDXR-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 FDXR-related_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FCN3 mondo_mondo_0013467_medgen_c3151226_omim_613860_orphanet_331190 Immunodeficiency due to ficolin3 deficiency MONDO:MONDO:0013467,MedGen:C3151226,OMIM:613860,Orphanet:331190 2 2 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_due_to_ficolin3_deficiency 3 low_record_burden_interpretation_limited low_record_burden_gene FBXO43 mondo_mondo_0030522_medgen_c5562062_omim_619696 Spermatogenic failure 64 MONDO:MONDO:0030522,MedGen:C5562062,OMIM:619696 2 2 1.0000 condition_record_support_limited 20 0 1 Spermatogenic_failure_64 4 low_record_burden_interpretation_limited low_record_burden_gene FBXO38 mondo_mondo_0014259_medgen_c3888271_omim_615575_orphanet_139525 Neuronopathy, distal hereditary motor, type 2D MONDO:MONDO:0014259,MedGen:C3888271,OMIM:615575,Orphanet:139525 2 2 1.0000 condition_record_support_limited 20 0 1 Neuronopathy,_distal_hereditary_motor,_type_2D 2 low_record_burden_interpretation_limited low_record_burden_gene FBXO28 condition_not_provided condition not provided .|MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 See_cases|not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene FBXL5 human_phenotype_ontology_hp_0000088_human_phenotype_ontology_hp_0000107_human_phenotype_ontology_hp_0000109_mondo_mondo_0002473_medgen_c3887499 Renal cyst Human_Phenotype_Ontology:HP:0000088,Human_Phenotype_Ontology:HP:0000107,Human_Phenotype_Ontology:HP:0000109,MONDO:MONDO:0002473,MedGen:C3887499 2 2 1.0000 condition_record_support_limited 20 0 2 Renal_cyst 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL5 mondo_mondo_0008266_medgen_c4282400_omim_174200 Polydactyly, postaxial, type A1 MONDO:MONDO:0008266,MedGen:C4282400,OMIM:174200 2 2 1.0000 condition_record_support_limited 20 0 2 Polydactyly,_postaxial,_type_A1 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL5 human_phenotype_ontology_hp_0001562_human_phenotype_ontology_hp_0004638_mondo_mondo_0005881_medgen_c0079924 Oligohydramnios Human_Phenotype_Ontology:HP:0001562,Human_Phenotype_Ontology:HP:0004638,MONDO:MONDO:0005881,MedGen:C0079924 2 2 1.0000 condition_record_support_limited 20 0 2 Oligohydramnios 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL5 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL5 human_phenotype_ontology_hp_0000774_human_phenotype_ontology_hp_0000909_human_phenotype_ontology_hp_0005252_human_phenotype_ontology_hp_0006588_medgen_c0426790 Narrow chest Human_Phenotype_Ontology:HP:0000774,Human_Phenotype_Ontology:HP:0000909,Human_Phenotype_Ontology:HP:0005252,Human_Phenotype_Ontology:HP:0006588,MedGen:C0426790 2 2 1.0000 condition_record_support_limited 20 0 2 Narrow_chest 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL5 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 2 Microcephaly 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL5 mondo_mondo_0008944_medgen_c4551568_omim_213300 Joubert syndrome 1 MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300 2 2 1.0000 condition_record_support_limited 20 0 2 Joubert_syndrome_1 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL5 human_phenotype_ontology_hp_0001762_mondo_mondo_0007342_medgen_c0009081_omim_119800_orphanet_199315 Clubfoot Human_Phenotype_Ontology:HP:0001762,MONDO:MONDO:0007342,MedGen:C0009081,OMIM:119800,Orphanet:199315 2 2 1.0000 condition_record_support_limited 20 0 2 Clubfoot 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL5 human_phenotype_ontology_hp_0002323_mondo_mondo_0000819_medgen_c0002902_omim_ps206500 Anencephaly Human_Phenotype_Ontology:HP:0002323,MONDO:MONDO:0000819,MedGen:C0002902,OMIM:PS206500 2 2 1.0000 condition_record_support_limited 20 0 2 Anencephaly 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL4 mondo_mondo_0018158_medgen_c0342782_omim_ps603041_orphanet_35698 Mitochondrial DNA depletion syndrome MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041,Orphanet:35698 2 2 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_DNA_depletion_syndrome 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBRS human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 1.0000 condition_record_support_limited 20 0 0 Short_stature 2 low_record_burden_interpretation_limited low_record_burden_gene FBP1 fbp1_related_disorder FBP1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 FBP1-related_disorder 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBN1 mondo_mondo_0018096_medgen_c0265313_omim_ps277600_orphanet_3449 Weill-Marchesani syndrome MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449 2 2 1.0000 condition_record_support_limited 20 0 1 Weill-Marchesani_syndrome 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0001023_human_phenotype_ontology_hp_0001065_human_phenotype_ontology_hp_0001066_human_phenotype_ontology_hp_0100680_medgen_c0152459 Striae distensae Human_Phenotype_Ontology:HP:0001023,Human_Phenotype_Ontology:HP:0001065,Human_Phenotype_Ontology:HP:0001066,Human_Phenotype_Ontology:HP:0100680,MedGen:C0152459 2 2 1.0000 condition_record_support_limited 20 0 2 Striae_distensae 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0001763_mondo_mondo_0005293_medgen_c0016202 Pes planus Human_Phenotype_Ontology:HP:0001763,MONDO:MONDO:0005293,MedGen:C0016202 2 2 1.0000 condition_record_support_limited 20 0 2 Pes_planus 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0000768_human_phenotype_ontology_hp_0006639_medgen_c0158731 Pectus carinatum Human_Phenotype_Ontology:HP:0000768,Human_Phenotype_Ontology:HP:0006639,MedGen:C0158731 2 2 1.0000 condition_record_support_limited 20 0 2 Pectus_carinatum 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0001653_mondo_mondo_1030008_medgen_c0026266 Mitral regurgitation Human_Phenotype_Ontology:HP:0001653,MONDO:MONDO:1030008,MedGen:C0026266 2 2 1.0000 condition_record_support_limited 20 0 2 Mitral_regurgitation 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 medgen_c4016055 Marfan syndrome, atypical MedGen:C4016055 2 2 1.0000 condition_record_support_limited 20 0 2 Marfan_syndrome,_atypical 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 medgen_c4016059 MARFAN SYNDROME, AUTOSOMAL RECESSIVE MedGen:C4016059 2 2 1.0000 condition_record_support_limited 20 0 2 MARFAN_SYNDROME,_AUTOSOMAL_RECESSIVE 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0001132_mondo_mondo_0001271_medgen_c0023316 Lens subluxation Human_Phenotype_Ontology:HP:0001132,MONDO:MONDO:0001271,MedGen:C0023316 2 2 1.0000 condition_record_support_limited 20 0 2 Lens_subluxation 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0001378_human_phenotype_ontology_hp_0001382_human_phenotype_ontology_hp_0005034_medgen_c1844820 Joint hypermobility Human_Phenotype_Ontology:HP:0001378,Human_Phenotype_Ontology:HP:0001382,Human_Phenotype_Ontology:HP:0005034,MedGen:C1844820 2 2 1.0000 condition_record_support_limited 20 0 2 Joint_hypermobility 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0000569_human_phenotype_ontology_hp_0011003_medgen_c0271183 High myopia Human_Phenotype_Ontology:HP:0000569,Human_Phenotype_Ontology:HP:0011003,MedGen:C0271183 2 2 1.0000 condition_record_support_limited 20 0 2 High_myopia 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0001166_human_phenotype_ontology_hp_0001505_medgen_c0003706 Arachnodactyly Human_Phenotype_Ontology:HP:0001166,Human_Phenotype_Ontology:HP:0001505,MedGen:C0003706 2 2 1.0000 condition_record_support_limited 20 0 2 Arachnodactyly 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBLN5 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene FAT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 38 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FARS2 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 2 2 1.0000 condition_record_support_limited 20 0 1 Leigh_syndrome 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCM mondo_mondo_0100578_medgen_cn379138 FANCM Fanconi-like genomic instability disorder MONDO:MONDO:0100578,MedGen:CN379138 2 2 1.0000 condition_record_support_limited 20 0 0 FANCM_Fanconi-like_genomic_instability_disorder 201 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FANCI mondo_mondo_0009215_medgen_c3469521_omim_227650_orphanet_84 Fanconi anemia complementation group A MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84 2 2 1.0000 condition_record_support_limited 20 0 1 Fanconi_anemia_complementation_group_A 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCG mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 213 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCE fance_related_disorder FANCE-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 FANCE-related_disorder 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCC mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 301 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCC mondo_mondo_0009215_medgen_c3469521_omim_227650_orphanet_84 Fanconi anemia complementation group A MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84 2 2 1.0000 condition_record_support_limited 20 0 2 Fanconi_anemia_complementation_group_A 301 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCB fancb_related_disorder FANCB-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 FANCB-related_disorder 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCA human_phenotype_ontology_hp_0001871_human_phenotype_ontology_hp_0003135_medgen_c0850715 Abnormality of blood and blood-forming tissues Human_Phenotype_Ontology:HP:0001871,Human_Phenotype_Ontology:HP:0003135,MedGen:C0850715 2 2 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_blood_and_blood-forming_tissues 955 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAN1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAM50A condition_not_provided condition not provided MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene FAM177A1 mondo_mondo_0976264_medgen_c6012709_omim_621152 Neurodevelopmental disorder with white matter abnormalities and gait disturbance MONDO:MONDO:0976264,MedGen:C6012709,OMIM:621152 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_white_matter_abnormalities_and_gait_disturbance 6 low_record_burden_interpretation_limited low_record_burden_gene FAM177A1 fam177a1_related_disorder FAM177A1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 FAM177A1-related_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene FAM111A mondo_mondo_0007478_medgen_c4316787_omim_127000_orphanet_2333_orphanet_93325 Autosomal dominant Kenny-Caffey syndrome MONDO:MONDO:0007478,MedGen:C4316787,OMIM:127000,Orphanet:2333,Orphanet:93325 2 2 1.0000 condition_record_support_limited 20 0 2 Autosomal_dominant_Kenny-Caffey_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene FAM110C human_phenotype_ontology_hp_0005092_medgen_c4025253 Streaky metaphyseal sclerosis Human_Phenotype_Ontology:HP:0005092,MedGen:C4025253 2 2 1.0000 condition_record_support_limited 20 0 2 Streaky_metaphyseal_sclerosis 2 low_record_burden_interpretation_limited low_record_burden_gene FAM110C human_phenotype_ontology_hp_0010371_medgen_c4023875 Aplasia/Hypoplasia of the phalanges of the 4th toe Human_Phenotype_Ontology:HP:0010371,MedGen:C4023875 2 2 1.0000 condition_record_support_limited 20 0 2 Aplasia/Hypoplasia_of_the_phalanges_of_the_4th_toe 2 low_record_burden_interpretation_limited low_record_burden_gene FAHD1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene FAHD1 mondo_mondo_0958035_medgen_c5882747_omim_620686 Premature ovarian failure 23 MONDO:MONDO:0958035,MedGen:C5882747,OMIM:620686 2 2 1.0000 condition_record_support_limited 20 0 1 Premature_ovarian_failure_23 5 low_record_burden_interpretation_limited low_record_burden_gene FAH mondo_mondo_0004741_medgen_c0268486_omim_ps276700 Tyrosinemia MONDO:MONDO:0004741,MedGen:C0268486,OMIM:PS276700 2 2 1.0000 condition_record_support_limited 20 0 2 Tyrosinemia 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAH mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FADD mondo_mondo_0013408_medgen_c3151062_omim_613759_orphanet_306550 FADD-related immunodeficiency MONDO:MONDO:0013408,MedGen:C3151062,OMIM:613759,Orphanet:306550 2 2 1.0000 condition_record_support_limited 20 0 0 FADD-related_immunodeficiency 2 low_record_burden_interpretation_limited low_record_burden_gene FA2H mondo_mondo_0018307_medgen_c2931845_omim_ps234200_orphanet_385 Neurodegeneration with brain iron accumulation MONDO:MONDO:0018307,MedGen:C2931845,OMIM:PS234200,Orphanet:385 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodegeneration_with_brain_iron_accumulation 63 compact_adjacent_exon_block_opportunity local_compact_architecture FA2H mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 63 compact_adjacent_exon_block_opportunity local_compact_architecture F9 hemophilia_b_m Hemophilia b(m) MedGen:CN043453 2 2 1.0000 condition_record_support_limited 20 0 1 Hemophilia_b(m) 299 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F9 human_phenotype_ontology_hp_0001928_medgen_c1846821 Abnormality of coagulation Human_Phenotype_Ontology:HP:0001928,MedGen:C1846821 2 2 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_coagulation 299 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F8 mondo_mondo_0015721_medgen_c0272324_orphanet_169808 Mild hemophilia A MONDO:MONDO:0015721,MedGen:C0272324,Orphanet:169808 2 2 1.0000 condition_record_support_limited 20 0 2 Mild_hemophilia_A 641 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture F8 human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_bleeding 641 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture F7 human_phenotype_ontology_hp_0001928_medgen_c1846821 Abnormality of coagulation Human_Phenotype_Ontology:HP:0001928,MedGen:C1846821 2 2 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_coagulation 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F2 f2_related_disorder F2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 F2-related_disorder 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F13A1 mondo_mondo_0008559_medgen_c3160733_omim_188050 Thrombophilia due to thrombin defect MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050 2 2 1.0000 condition_record_support_limited 20 0 2 Thrombophilia_due_to_thrombin_defect 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F13A1 mondo_mondo_0012039_medgen_c1832662_omim_608446 Myocardial infarction, susceptibility to MONDO:MONDO:0012039,MedGen:C1832662,OMIM:608446 2 2 1.0000 condition_record_support_limited 20 0 2 Myocardial_infarction,_susceptibility_to 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F11 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 216 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYS human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 2 2 1.0000 condition_record_support_limited 20 0 2 Macular_dystrophy 1068 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EYS mondo_mondo_0800391_medgen_cn322597 EYS-related retinopathy MONDO:MONDO:0800391,MedGen:CN322597 2 2 1.0000 condition_record_support_limited 20 0 2 EYS-related_retinopathy 1068 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EYA1 monogenic_hearing_loss Monogenic hearing loss . 2 2 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA1 mondo_mondo_0007235_mesh_d019280_medgen_c0376524_omim_113620_orphanet_1297 Branchiooculofacial syndrome MONDO:MONDO:0007235,MeSH:D019280,MedGen:C0376524,OMIM:113620,Orphanet:1297 2 2 1.0000 condition_record_support_limited 20 0 1 Branchiooculofacial_syndrome 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXTL3 mondo_mondo_0044312_medgen_c4479452_omim_617425 Immunoskeletal dysplasia with neurodevelopmental abnormalities MONDO:MONDO:0044312,MedGen:C4479452,OMIM:617425 2 2 1.0000 condition_record_support_limited 20 0 1 Immunoskeletal_dysplasia_with_neurodevelopmental_abnormalities 2 low_record_burden_interpretation_limited low_record_burden_gene EXOSC2 mondo_mondo_0044634_medgen_c4540367_omim_617763_orphanet_494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO:MONDO:0044634,MedGen:C4540367,OMIM:617763,Orphanet:494439 2 2 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa-hearing_loss-premature_aging-short_stature-facial_dysmorphism_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene EXOC8 mondo_mondo_0033662_medgen_c5436747_omim_619076 Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy MONDO:MONDO:0033662,MedGen:C5436747,OMIM:619076 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_microcephaly,_seizures,_and_brain_atrophy 2 low_record_burden_interpretation_limited low_record_burden_gene EVI2A condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene EVI2A mondo_mondo_0018975_medgen_c0027831_omim_162200_orphanet_636 Neurofibromatosis, type 1 MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200,Orphanet:636 2 2 1.0000 condition_record_support_limited 20 0 1 Neurofibromatosis,_type_1 3 low_record_burden_interpretation_limited low_record_burden_gene EVC2 mondo_mondo_0010024_medgen_c0432198_omim_269860_orphanet_93268 Type IV short rib polydactyly syndrome MONDO:MONDO:0010024,MedGen:C0432198,OMIM:269860,Orphanet:93268 2 2 1.0000 condition_record_support_limited 20 0 2 Type_IV_short_rib_polydactyly_syndrome 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EVC2 mondo_mondo_0009894_medgen_c0024507_omim_263520 Short-rib thoracic dysplasia 6 with or without polydactyly MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520 2 2 1.0000 condition_record_support_limited 20 0 2 Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETV6 human_phenotype_ontology_hp_0004803_human_phenotype_ontology_hp_0005555_human_phenotype_ontology_hp_0006721_mondo_mondo_0004967_medgen_c0023449_omim_613065_orphanet_513 Acute lymphoid leukemia Human_Phenotype_Ontology:HP:0004803,Human_Phenotype_Ontology:HP:0005555,Human_Phenotype_Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513 2 2 1.0000 condition_record_support_limited 20 0 2 Acute_lymphoid_leukemia 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETV2 human_phenotype_ontology_hp_0006034_human_phenotype_ontology_hp_0006046_human_phenotype_ontology_hp_0006123_human_phenotype_ontology_hp_0009605_human_phenotype_ontology_hp_0010442_mondo_mondo_0021003_medgen_c0152427_omim_603596 Polydactyly Human_Phenotype_Ontology:HP:0006034,Human_Phenotype_Ontology:HP:0006046,Human_Phenotype_Ontology:HP:0006123,Human_Phenotype_Ontology:HP:0009605,Human_Phenotype_Ontology:HP:0010442,MONDO:MONDO:0021003,MedGen:C0152427,OMIM:603596 2 2 1.0000 condition_record_support_limited 20 0 2 Polydactyly 2 low_record_burden_interpretation_limited low_record_burden_gene ETV2 human_phenotype_ontology_hp_0004383_mondo_mondo_0004933_medgen_c0152101_omim_ps241550_orphanet_2248 Hypoplastic left heart syndrome Human_Phenotype_Ontology:HP:0004383,MONDO:MONDO:0004933,MedGen:C0152101,OMIM:PS241550,Orphanet:2248 2 2 1.0000 condition_record_support_limited 20 0 2 Hypoplastic_left_heart_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene ETV2 human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 2 2 1.0000 condition_record_support_limited 20 0 2 Heart,_malformation_of 2 low_record_burden_interpretation_limited low_record_burden_gene ETV2 human_phenotype_ontology_hp_0003468_human_phenotype_ontology_hp_0005719_medgen_c1834129 Abnormal vertebral morphology Human_Phenotype_Ontology:HP:0003468,Human_Phenotype_Ontology:HP:0005719,MedGen:C1834129 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_vertebral_morphology 2 low_record_burden_interpretation_limited low_record_burden_gene ETFDH human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 2 2 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 301 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETFB mondo_mondo_0700074_medgen_c3278155 Glutaric acidemia IIb MONDO:MONDO:0700074,MedGen:C3278155 2 2 1.0000 condition_record_support_limited 20 0 1 Glutaric_acidemia_IIb 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETFA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETFA etfa_related_disorder ETFA-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 ETFA-related_disorder 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ESRP2 medgen_c0810364_orphanet_1991 Cleft lip with or without cleft palate MedGen:C0810364,Orphanet:1991 2 2 1.0000 condition_record_support_limited 20 0 0 Cleft_lip_with_or_without_cleft_palate 2 low_record_burden_interpretation_limited low_record_burden_gene ESRP1 mondo_mondo_0033202_medgen_c4693935_omim_618013 Hearing loss, autosomal recessive 109 MONDO:MONDO:0033202,MedGen:C4693935,OMIM:618013 2 2 1.0000 condition_record_support_limited 20 0 0 Hearing_loss,_autosomal_recessive_109 2 low_record_burden_interpretation_limited low_record_burden_gene ESPN medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 2 2 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_deafness 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ESCO2 esco2_related_disorder ESCO2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 ESCO2-related_disorder 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC8 mondo_mondo_0032616_medgen_c4748768_omim_618233 Mitochondrial complex I deficiency, nuclear type 10 MONDO:MONDO:0032616,MedGen:C4748768,OMIM:618233 2 2 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_complex_I_deficiency,_nuclear_type_10 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC8 ercc8_related_disorder ERCC8-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 ERCC8-related_disorder 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC6L2 human_phenotype_ontology_hp_0005528_human_phenotype_ontology_hp_0005529_human_phenotype_ontology_hp_0100549_medgen_c1855710 Bone marrow hypocellularity Human_Phenotype_Ontology:HP:0005528,Human_Phenotype_Ontology:HP:0005529,Human_Phenotype_Ontology:HP:0100549,MedGen:C1855710 2 2 1.0000 condition_record_support_limited 20 0 0 Bone_marrow_hypocellularity 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC6 mondo_mondo_0005138_medgen_c0684249 Lung carcinoma MONDO:MONDO:0005138,MedGen:C0684249 2 2 1.0000 condition_record_support_limited 20 0 2 Lung_carcinoma 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC5 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC4 ercc4_related_disorders ERCC4-Related Disorders . 2 2 1.0000 condition_record_support_limited 20 0 2 ERCC4-Related_Disorders 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC2 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 2 2 1.0000 condition_record_support_limited 20 0 2 Hereditary_cancer-predisposing_syndrome 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERBB4 mondo_mondo_0014223_medgen_c3715155_omim_615515_orphanet_803 Amyotrophic lateral sclerosis type 19 MONDO:MONDO:0014223,MedGen:C3715155,OMIM:615515,Orphanet:803 2 2 1.0000 condition_record_support_limited 20 0 1 Amyotrophic_lateral_sclerosis_type_19 10 low_record_burden_interpretation_limited low_record_burden_gene ERBB2 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 2 2 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERAP1 mondo_mondo_0014574_medgen_c4225381_omim_616295_orphanet_444138 Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome MONDO:MONDO:0014574,MedGen:C4225381,OMIM:616295,Orphanet:444138 2 2 1.0000 condition_record_support_limited 20 0 0 Peeling_skin-leukonuchia-acral_punctate_keratoses-cheilitis-knuckle_pads_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene EPO mondo_mondo_0033483_medgen_c4693552_omim_617907 Erythrocytosis, familial, 5 MONDO:MONDO:0033483,MedGen:C4693552,OMIM:617907 2 2 1.0000 condition_record_support_limited 20 0 0 Erythrocytosis,_familial,_5 3 low_record_burden_interpretation_limited low_record_burden_gene EPHB4 mondo_mondo_0007919_medgen_c1704423_omim_153100_orphanet_79452 Hereditary lymphedema type I MONDO:MONDO:0007919,MedGen:C1704423,OMIM:153100,Orphanet:79452 2 2 1.0000 condition_record_support_limited 20 0 1 Hereditary_lymphedema_type_I 135 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPHB4 mondo_mondo_0700080_medgen_cn315656 EPHB4-associated vascular malformation spectrum MONDO:MONDO:0700080,MedGen:CN315656 2 2 1.0000 condition_record_support_limited 20 0 0 EPHB4-associated_vascular_malformation_spectrum 135 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPHA2 epha2_related_disorder EPHA2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 EPHA2-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene EPG5 medgen_c5680332_orphanet_98661 Syndromic retinitis pigmentosa MedGen:C5680332,Orphanet:98661 2 2 1.0000 condition_record_support_limited 20 0 0 Syndromic_retinitis_pigmentosa 213 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EPCAM mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_cancer_of_breast 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPCAM mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 2 2 1.0000 condition_record_support_limited 20 0 0 Carcinoma_of_colon 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPB41 epb41_related_disorder EPB41-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 EPB41-related_disorder 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EP300 mondo_mondo_0019188_medgen_c0035934_omim_ps180849_orphanet_783 Rubinstein-Taybi syndrome MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783 2 2 1.0000 condition_record_support_limited 20 0 1 Rubinstein-Taybi_syndrome 264 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EP300 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 264 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EP300 mondo_mondo_0024331_medgen_c0009402 Colorectal carcinoma MONDO:MONDO:0024331,MedGen:C0009402 2 2 1.0000 condition_record_support_limited 20 0 2 Colorectal_carcinoma 264 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EP300 mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 2 2 1.0000 condition_record_support_limited 20 0 1 Carcinoma_of_colon 264 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ENTREP2 mondo_mondo_0014984_medgen_c4310653_omim_617241 Lung disease, immunodeficiency, and chromosome breakage syndrome MONDO:MONDO:0014984,MedGen:C4310653,OMIM:617241 2 2 1.0000 condition_record_support_limited 20 0 2 Lung_disease,_immunodeficiency,_and_chromosome_breakage_syndrome%3B 2 low_record_burden_interpretation_limited low_record_burden_gene ENTREP2 lung_damage_immunodeficiency_and_chromosome_breakage_syndrome Lung damage, immunodeficiency and chromosome breakage syndrome . 2 2 1.0000 condition_record_support_limited 20 0 2 Lung_damage,_immunodeficiency_and_chromosome_breakage_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene ENTPD1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene ENPP1 medgen_c1859728 Coronary sclerosis, medial, of infancy MedGen:C1859728 2 2 1.0000 condition_record_support_limited 20 0 1 Coronary_sclerosis,_medial,_of_infancy 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENOSF1 mondo_mondo_0031057_medgen_c5774217_omim_620040 Dyskeratosis congenita, digenic MONDO:MONDO:0031057,MedGen:C5774217,OMIM:620040 2 2 1.0000 condition_record_support_limited 20 0 2 Dyskeratosis_congenita,_digenic 4 low_record_burden_interpretation_limited low_record_burden_gene EMX2 mondo_mondo_0015770_medgen_c3899503_orphanet_174590 Congenital hypogonadotropic hypogonadism MONDO:MONDO:0015770,MedGen:C3899503,Orphanet:174590 2 2 1.0000 condition_record_support_limited 20 0 0 Congenital_hypogonadotropic_hypogonadism 6 low_record_burden_interpretation_limited low_record_burden_gene EME2 mondo_mondo_0054654_medgen_c4540029_omim_617664 Combined oxidative phosphorylation deficiency 32 MONDO:MONDO:0054654,MedGen:C4540029,OMIM:617664 2 2 1.0000 condition_record_support_limited 20 0 2 Combined_oxidative_phosphorylation_deficiency_32 4 low_record_burden_interpretation_limited low_record_burden_gene EMC1 emc1_related_disorder EMC1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 EMC1-related_disorder 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELP4 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 2 Seizure 19 low_record_burden_interpretation_limited low_record_burden_gene ELP4 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 19 low_record_burden_interpretation_limited low_record_burden_gene ELP4 mondo_mondo_0007628_medgen_c3805604_omim_136520_orphanet_2253 Foveal hypoplasia 1 MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520,Orphanet:2253 2 2 1.0000 condition_record_support_limited 20 0 2 Foveal_hypoplasia_1 19 low_record_burden_interpretation_limited low_record_burden_gene ELP4 human_phenotype_ontology_hp_0002128_human_phenotype_ontology_hp_0002129_human_phenotype_ontology_hp_0002302_human_phenotype_ontology_hp_0002337_human_phenotype_ontology_hp_0002441_human_phenotype_ontology_hp_0006972_human_phenotype_ontology_hp_0006998_human_phenotype_ontology_hp_0007211_human_phenotype_ontology_hp_0100543_medgen_c0338656 Cognitive impairment Human_Phenotype_Ontology:HP:0002128,Human_Phenotype_Ontology:HP:0002129,Human_Phenotype_Ontology:HP:0002302,Human_Phenotype_Ontology:HP:0002337,Human_Phenotype_Ontology:HP:0002441,Human_Phenotype_Ontology:HP:0006972,Human_Phenotype_Ontology:HP:0006998,Human_Phenotype_Ontology:HP:0007211,Human_Phenotype_Ontology:HP:0100543,MedGen:C0338656 2 2 1.0000 condition_record_support_limited 20 0 2 Cognitive_impairment 19 low_record_burden_interpretation_limited low_record_burden_gene ELP2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 17 low_record_burden_interpretation_limited low_record_burden_gene ELP2 elp2_related_disorder ELP2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 ELP2-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene ELP1 mondo_mondo_0021809_medgen_cn376829 Primary dysautonomia MONDO:MONDO:0021809,MedGen:CN376829 2 2 1.0000 condition_record_support_limited 20 0 1 Primary_dysautonomia 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELP1 elp1_related_disorder ELP1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 ELP1-related_disorder 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELOVL5 mondo_mondo_0014417_medgen_c4518337_omim_615957_orphanet_423296 Spinocerebellar ataxia type 38 MONDO:MONDO:0014417,MedGen:C4518337,OMIM:615957,Orphanet:423296 2 2 1.0000 condition_record_support_limited 20 0 0 Spinocerebellar_ataxia_type_38 2 low_record_burden_interpretation_limited low_record_burden_gene ELOVL4 elovl4_related_disorder ELOVL4-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 ELOVL4-related_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELANE human_phenotype_ontology_hp_0001875_human_phenotype_ontology_hp_0005515_human_phenotype_ontology_hp_0005533_mondo_mondo_0001475_medgen_c0853697 Decreased total neutrophil count Human_Phenotype_Ontology:HP:0001875,Human_Phenotype_Ontology:HP:0005515,Human_Phenotype_Ontology:HP:0005533,MONDO:MONDO:0001475,MedGen:C0853697 2 2 1.0000 condition_record_support_limited 20 0 1 Decreased_total_neutrophil_count 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELAC2 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF4A2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 18 low_record_burden_interpretation_limited low_record_burden_gene EIF2B4 mondo_mondo_0020507_medgen_c5779972_omim_603896_orphanet_99854 Leukoencephalopathy with vanishing white matter 1 MONDO:MONDO:0020507,MedGen:C5779972,OMIM:603896,Orphanet:99854 2 2 1.0000 condition_record_support_limited 20 0 1 Leukoencephalopathy_with_vanishing_white_matter_1 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2B2 human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Premature ovarian insufficiency Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 2 2 1.0000 condition_record_support_limited 20 0 2 Premature_ovarian_insufficiency 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2B2 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_nervous_system 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2AK2 mondo_mondo_0030035_medgen_c5394367_omim_618877 Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome MONDO:MONDO:0030035,MedGen:C5394367,OMIM:618877 2 2 1.0000 condition_record_support_limited 20 0 0 Leukoencephalopathy,_developmental_delay,_and_episodic_neurologic_regression_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene EIF2AK2 mondo_mondo_0030513_medgen_c5562054_omim_619687 Dystonia 33 MONDO:MONDO:0030513,MedGen:C5562054,OMIM:619687 2 2 1.0000 condition_record_support_limited 20 0 1 Dystonia_33 4 low_record_burden_interpretation_limited low_record_burden_gene EIF2AK1 mondo_mondo_0054817_medgen_c4693912_omim_618006 Leukodystrophy, hypomyelinating, 17 MONDO:MONDO:0054817,MedGen:C4693912,OMIM:618006 2 2 1.0000 condition_record_support_limited 20 0 1 Leukodystrophy,_hypomyelinating,_17 3 low_record_burden_interpretation_limited low_record_burden_gene EHMT1 marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 2 2 1.0000 condition_record_support_limited 20 0 1 Marfanoid_habitus_and_intellectual_disability 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EHMT1 mondo_mondo_0012455_medgen_c4551771_omim_ps610253_orphanet_261494 Kleefstra syndrome MONDO:MONDO:0012455,MedGen:C4551771,OMIM:PS610253,Orphanet:261494 2 2 1.0000 condition_record_support_limited 20 0 1 Kleefstra_syndrome 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EHMT1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EHMT1 ehmt1_related_disorder EHMT1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 EHMT1-related_disorder 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EGR2 medgen_c4016028 Dejerine-sottas neuropathy, autosomal dominant MedGen:C4016028 2 2 1.0000 condition_record_support_limited 20 0 2 Dejerine-sottas_neuropathy,_autosomal_dominant 18 low_record_burden_interpretation_limited low_record_burden_gene EGLN1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene EGFR condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EGFR medgen_c4016032 Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic MedGen:C4016032 2 2 1.0000 condition_record_support_limited 20 0 2 Nonsmall_cell_lung_cancer,_response_to_tyrosine_kinase_inhibitor_in,_somatic 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EGFR mondo_mondo_0008903_medgen_c0242379_omim_211980 Lung cancer MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 2 2 1.0000 condition_record_support_limited 20 0 0 Lung_cancer 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EGFR mondo_mondo_0014481_medgen_c4015130_omim_616069_orphanet_294023 Inflammatory skin and bowel disease, neonatal, 2 MONDO:MONDO:0014481,MedGen:C4015130,OMIM:616069,Orphanet:294023 2 2 1.0000 condition_record_support_limited 20 0 1 Inflammatory_skin_and_bowel_disease,_neonatal,_2 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFTUD2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFTUD2 eftud2_related_disorder EFTUD2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 EFTUD2-related_disorder 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFNB1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFEMP1 human_phenotype_ontology_hp_0000098_human_phenotype_ontology_hp_0001527_human_phenotype_ontology_hp_0003515_human_phenotype_ontology_hp_0003516_medgen_c0241240 Tall stature Human_Phenotype_Ontology:HP:0000098,Human_Phenotype_Ontology:HP:0001527,Human_Phenotype_Ontology:HP:0003515,Human_Phenotype_Ontology:HP:0003516,MedGen:C0241240 2 2 1.0000 condition_record_support_limited 20 0 2 Tall_stature 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 2 2 1.0000 condition_record_support_limited 20 0 2 Scoliosis 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 human_phenotype_ontology_hp_0032446_medgen_c0241982 Pulmonary bulla Human_Phenotype_Ontology:HP:0032446,MedGen:C0241982 2 2 1.0000 condition_record_support_limited 20 0 2 Pulmonary_bulla 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 human_phenotype_ontology_hp_0025193_medgen_c0265700 Posterolateral diaphragmatic hernia Human_Phenotype_Ontology:HP:0025193,MedGen:C0265700 2 2 1.0000 condition_record_support_limited 20 0 2 Posterolateral_diaphragmatic_hernia 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 human_phenotype_ontology_hp_0001378_human_phenotype_ontology_hp_0001382_human_phenotype_ontology_hp_0005034_medgen_c1844820 Joint hypermobility Human_Phenotype_Ontology:HP:0001378,Human_Phenotype_Ontology:HP:0001382,Human_Phenotype_Ontology:HP:0005034,MedGen:C1844820 2 2 1.0000 condition_record_support_limited 20 0 2 Joint_hypermobility 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 human_phenotype_ontology_hp_0000023_medgen_c0019294 Inguinal hernia Human_Phenotype_Ontology:HP:0000023,MedGen:C0019294 2 2 1.0000 condition_record_support_limited 20 0 2 Inguinal_hernia 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 human_phenotype_ontology_hp_0000569_human_phenotype_ontology_hp_0011003_medgen_c0271183 High myopia Human_Phenotype_Ontology:HP:0000569,Human_Phenotype_Ontology:HP:0011003,MedGen:C0271183 2 2 1.0000 condition_record_support_limited 20 0 2 High_myopia 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 medgen_c1969811_omim_611276 Glaucoma 1, open angle, H MedGen:C1969811,OMIM:611276 2 2 1.0000 condition_record_support_limited 20 0 2 Glaucoma_1,_open_angle,_H 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 2 2 1.0000 condition_record_support_limited 20 0 2 Generalized_hypotonia 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 human_phenotype_ontology_hp_0007651_medgen_c0521736 Ectropion of lower eyelids Human_Phenotype_Ontology:HP:0007651,MedGen:C0521736 2 2 1.0000 condition_record_support_limited 20 0 2 Ectropion_of_lower_eyelids 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 human_phenotype_ontology_hp_0100775_medgen_c1851712 Dural ectasia Human_Phenotype_Ontology:HP:0100775,MedGen:C1851712 2 2 1.0000 condition_record_support_limited 20 0 2 Dural_ectasia 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 human_phenotype_ontology_hp_0000258_human_phenotype_ontology_hp_0000268_human_phenotype_ontology_hp_0005440_medgen_c0221358 Dolichocephaly Human_Phenotype_Ontology:HP:0000258,Human_Phenotype_Ontology:HP:0000268,Human_Phenotype_Ontology:HP:0005440,MedGen:C0221358 2 2 1.0000 condition_record_support_limited 20 0 2 Dolichocephaly 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 human_phenotype_ontology_hp_0000015_mondo_mondo_0007197_medgen_c0156273_omim_109820 Diverticulum of bladder Human_Phenotype_Ontology:HP:0000015,MONDO:MONDO:0007197,MedGen:C0156273,OMIM:109820 2 2 1.0000 condition_record_support_limited 20 0 2 Diverticulum_of_bladder 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 human_phenotype_ontology_hp_0001166_human_phenotype_ontology_hp_0001505_medgen_c0003706 Arachnodactyly Human_Phenotype_Ontology:HP:0001166,Human_Phenotype_Ontology:HP:0001505,MedGen:C0003706 2 2 1.0000 condition_record_support_limited 20 0 2 Arachnodactyly 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 human_phenotype_ontology_hp_0002649_human_phenotype_ontology_hp_0005616_human_phenotype_ontology_hp_0005854_medgen_c0545053 Accelerated skeletal maturation Human_Phenotype_Ontology:HP:0002649,Human_Phenotype_Ontology:HP:0005616,Human_Phenotype_Ontology:HP:0005854,MedGen:C0545053 2 2 1.0000 condition_record_support_limited 20 0 2 Accelerated_skeletal_maturation 14 low_record_burden_interpretation_limited low_record_burden_gene EEF2 mondo_mondo_0012246_medgen_c1836395_omim_609306_orphanet_101112 Spinocerebellar ataxia type 26 MONDO:MONDO:0012246,MedGen:C1836395,OMIM:609306,Orphanet:101112 2 2 1.0000 condition_record_support_limited 20 0 1 Spinocerebellar_ataxia_type_26 7 low_record_burden_interpretation_limited low_record_burden_gene EEF2 eef2_related_neurodevelopmental_disorder_with_multiple_anomalies EEF2-related neurodevelopmental disorder with multiple anomalies . 2 2 1.0000 condition_record_support_limited 20 0 0 EEF2-related_neurodevelopmental_disorder_with_multiple_anomalies 7 low_record_burden_interpretation_limited low_record_burden_gene EEF1D eef1d_related_intellectual_disabilities EEF1D-related intellectual disabilities . 2 2 1.0000 condition_record_support_limited 20 0 0 EEF1D-related_intellectual_disabilities 9 low_record_burden_interpretation_limited low_record_burden_gene EEF1B2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 3 low_record_burden_interpretation_limited low_record_burden_gene EEF1A2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EED condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene EDNRA mondo_mondo_0014608_medgen_c4225349_omim_616367_orphanet_443995 Mandibulofacial dysostosis with alopecia MONDO:MONDO:0014608,MedGen:C4225349,OMIM:616367,Orphanet:443995 2 2 1.0000 condition_record_support_limited 20 0 0 Mandibulofacial_dysostosis_with_alopecia 2 low_record_burden_interpretation_limited low_record_burden_gene EDN1 mondo_mondo_0013013_medgen_c2748545_omim_612798_orphanet_137888 Question mark ears, isolated MONDO:MONDO:0013013,MedGen:C2748545,OMIM:612798,Orphanet:137888 2 2 1.0000 condition_record_support_limited 20 0 0 Question_mark_ears,_isolated 4 low_record_burden_interpretation_limited low_record_burden_gene EDN1 mondo_mondo_0014312_medgen_c3810332_omim_615706_orphanet_137888 Auriculocondylar syndrome 3 MONDO:MONDO:0014312,MedGen:C3810332,OMIM:615706,Orphanet:137888 2 2 1.0000 condition_record_support_limited 20 0 0 Auriculocondylar_syndrome_3 4 low_record_burden_interpretation_limited low_record_burden_gene EDEM3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene EDC3 mondo_mondo_0014649_medgen_c4225319_omim_616460_orphanet_88616 Intellectual disability, autosomal recessive 50 MONDO:MONDO:0014649,MedGen:C4225319,OMIM:616460,Orphanet:88616 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_autosomal_recessive_50 2 low_record_burden_interpretation_limited low_record_burden_gene EDARADD condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene EDARADD mondo_mondo_0007509_medgen_c3888065_omim_129490_orphanet_1810_orphanet_238468 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant MONDO:MONDO:0007509,MedGen:C3888065,OMIM:129490,Orphanet:1810,Orphanet:238468 2 2 1.0000 condition_record_support_limited 20 0 2 Ectodermal_dysplasia_10A,_hypohidrotic/hair/nail_type,_autosomal_dominant 16 low_record_burden_interpretation_limited low_record_burden_gene EDAR mondo_mondo_0008758_medgen_c0205710_omim_203700_orphanet_726 Progressive sclerosing poliodystrophy MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726 2 2 1.0000 condition_record_support_limited 20 0 2 Progressive_sclerosing_poliodystrophy 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EDAR non_syndromic_oligodontia Non-syndromic oligodontia . 2 2 1.0000 condition_record_support_limited 20 0 1 Non-syndromic_oligodontia 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EDAR mondo_mondo_0013350_medgen_c3150914_omim_613662_orphanet_298 Mitochondrial DNA depletion syndrome 4b MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298 2 2 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_DNA_depletion_syndrome_4b 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EDAR mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EDA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 276 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EDA human_phenotype_ontology_hp_0000668_mondo_mondo_0005486_medgen_c0020608_omim_ps106600_orphanet_99798 Hypodontia Human_Phenotype_Ontology:HP:0000668,MONDO:MONDO:0005486,MedGen:C0020608,OMIM:PS106600,Orphanet:99798 2 2 1.0000 condition_record_support_limited 20 0 2 Hypodontia 276 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ECE1 mondo_mondo_0013473_medgen_c3151237_omim_613870 Hirschsprung disease, cardiac defects, and autonomic dysfunction MONDO:MONDO:0013473,MedGen:C3151237,OMIM:613870 2 2 1.0000 condition_record_support_limited 20 0 0 Hirschsprung_disease,_cardiac_defects,_and_autonomic_dysfunction 4 low_record_burden_interpretation_limited low_record_burden_gene ECE1 human_phenotype_ontology_hp_0002029_human_phenotype_ontology_hp_0002030_human_phenotype_ontology_hp_0002251_human_phenotype_ontology_hp_0002606_human_phenotype_ontology_hp_0004391_mondo_mondo_0018309_mesh_d006627_medgen_c0019569_omim_ps142623_orphanet_388 Aganglionic megacolon Human_Phenotype_Ontology:HP:0002029,Human_Phenotype_Ontology:HP:0002030,Human_Phenotype_Ontology:HP:0002251,Human_Phenotype_Ontology:HP:0002606,Human_Phenotype_Ontology:HP:0004391,MONDO:MONDO:0018309,MeSH:D006627,MedGen:C0019569,OMIM:PS142623,Orphanet:388 2 2 1.0000 condition_record_support_limited 20 0 0 Aganglionic_megacolon 4 low_record_burden_interpretation_limited low_record_burden_gene EBF3 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 2 2 1.0000 condition_record_support_limited 20 0 2 Hypotonia 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBF3 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 2 2 1.0000 condition_record_support_limited 20 0 2 Generalized_hypotonia 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBF3 human_phenotype_ontology_hp_0002474_human_phenotype_ontology_hp_0007192_medgen_c0454641 Expressive language delay Human_Phenotype_Ontology:HP:0002474,Human_Phenotype_Ontology:HP:0007192,MedGen:C0454641 2 2 1.0000 condition_record_support_limited 20 0 2 Expressive_language_delay 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBF3 human_phenotype_ontology_hp_0001251_human_phenotype_ontology_hp_0001253_human_phenotype_ontology_hp_0002513_human_phenotype_ontology_hp_0007050_human_phenotype_ontology_hp_0007157_medgen_c0004134 Ataxia Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MedGen:C0004134 2 2 1.0000 condition_record_support_limited 20 0 2 Ataxia 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EARS2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DZIP1 mondo_mondo_0030844_medgen_c5436818_omim_619102 Spermatogenic failure 47 MONDO:MONDO:0030844,MedGen:C5436818,OMIM:619102 2 2 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_47 2 low_record_burden_interpretation_limited low_record_burden_gene DYSF human_phenotype_ontology_hp_0003485_human_phenotype_ontology_hp_0009035_human_phenotype_ontology_hp_0009053_medgen_c1836450 Distal lower limb muscle weakness Human_Phenotype_Ontology:HP:0003485,Human_Phenotype_Ontology:HP:0009035,Human_Phenotype_Ontology:HP:0009053,MedGen:C1836450 2 2 1.0000 condition_record_support_limited 20 0 2 Distal_lower_limb_muscle_weakness 913 large_gene_or_donor_burden_stress_case donor_burden_stress DYRK1B mondo_mondo_0014352_medgen_c4014361_omim_615812 Abdominal obesity-metabolic syndrome 3 MONDO:MONDO:0014352,MedGen:C4014361,OMIM:615812 2 2 1.0000 condition_record_support_limited 20 0 1 Abdominal_obesity-metabolic_syndrome_3 2 low_record_burden_interpretation_limited low_record_burden_gene DYRK1A medgen_c5681167_orphanet_399775 Male infertility with spermatogenesis disorder MedGen:C5681167,Orphanet:399775 2 2 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_spermatogenesis_disorder 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC2LI1 mondo_mondo_0020747_medgen_c2749759_omim_210250 Sitosterolemia 1 MONDO:MONDO:0020747,MedGen:C2749759,OMIM:210250 2 2 1.0000 condition_record_support_limited 20 0 2 Sitosterolemia_1 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC2LI1 abcg5_related_disorder ABCG5-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 ABCG5-related_disorder 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC2I2 mondo_mondo_0013127_medgen_c0036069_omim_613091_orphanet_474_orphanet_93269_orphanet_93270_orphanet_93271 Asphyxiating thoracic dystrophy 3 MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271 2 2 1.0000 condition_record_support_limited 20 0 0 Asphyxiating_thoracic_dystrophy_3 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC2I1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC2I1 mondo_mondo_0013127_medgen_c0036069_omim_613091_orphanet_474_orphanet_93269_orphanet_93270_orphanet_93271 Asphyxiating thoracic dystrophy 3 MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271 2 2 1.0000 condition_record_support_limited 20 0 1 Asphyxiating_thoracic_dystrophy_3 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC2H1 mondo_mondo_0009894_medgen_c0024507_omim_263520 Short-rib thoracic dysplasia 6 with or without polydactyly MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520 2 2 1.0000 condition_record_support_limited 20 0 2 Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly 566 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC2H1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 566 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC2H1 human_phenotype_ontology_hp_0000774_human_phenotype_ontology_hp_0000909_human_phenotype_ontology_hp_0005252_human_phenotype_ontology_hp_0006588_medgen_c0426790 Narrow chest Human_Phenotype_Ontology:HP:0000774,Human_Phenotype_Ontology:HP:0000909,Human_Phenotype_Ontology:HP:0005252,Human_Phenotype_Ontology:HP:0006588,MedGen:C0426790 2 2 1.0000 condition_record_support_limited 20 0 2 Narrow_chest 566 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC2H1 human_phenotype_ontology_hp_0001511_human_phenotype_ontology_hp_0001515_human_phenotype_ontology_hp_0008862_human_phenotype_ontology_hp_0008892_human_phenotype_ontology_hp_0008931_mondo_mondo_0005030_medgen_c0015934 Fetal growth restriction Human_Phenotype_Ontology:HP:0001511,Human_Phenotype_Ontology:HP:0001515,Human_Phenotype_Ontology:HP:0008862,Human_Phenotype_Ontology:HP:0008892,Human_Phenotype_Ontology:HP:0008931,MONDO:MONDO:0005030,MedGen:C0015934 2 2 1.0000 condition_record_support_limited 20 0 2 Fetal_growth_restriction 566 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC2H1 human_phenotype_ontology_hp_0002976_human_phenotype_ontology_hp_0005087_human_phenotype_ontology_hp_0005908_human_phenotype_ontology_hp_0006404_human_phenotype_ontology_hp_0006451_human_phenotype_ontology_hp_0006452_human_phenotype_ontology_hp_0006487_medgen_c1855340 Bowing of the long bones Human_Phenotype_Ontology:HP:0002976,Human_Phenotype_Ontology:HP:0005087,Human_Phenotype_Ontology:HP:0005908,Human_Phenotype_Ontology:HP:0006404,Human_Phenotype_Ontology:HP:0006451,Human_Phenotype_Ontology:HP:0006452,Human_Phenotype_Ontology:HP:0006487,MedGen:C1855340 2 2 1.0000 condition_record_support_limited 20 0 2 Bowing_of_the_long_bones 566 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC1I2 mondo_mondo_0060490_medgen_c4479566_omim_617481_orphanet_544469 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:MONDO:0060490,MedGen:C4479566,OMIM:617481,Orphanet:544469 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_microcephaly,_hypotonia,_and_variable_brain_anomalies 5 low_record_burden_interpretation_limited low_record_burden_gene DYNC1H1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 2 Seizure 176 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC1H1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 176 large_gene_or_donor_burden_stress_case donor_burden_stress DVL1 mondo_mondo_0024455_medgen_c4551475_omim_180700_orphanet_3107_orphanet_97360 Autosomal dominant Robinow syndrome 1 MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700,Orphanet:3107,Orphanet:97360 2 2 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_Robinow_syndrome_1 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DUOXA2 mondo_mondo_0010132_medgen_c4273748_omim_ps274400_orphanet_95716 Familial thyroid dyshormonogenesis MONDO:MONDO:0010132,MedGen:C4273748,OMIM:PS274400,Orphanet:95716 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_thyroid_dyshormonogenesis 27 compact_adjacent_exon_block_opportunity local_compact_architecture DUOXA1 mondo_mondo_0010137_medgen_c0342196_omim_274900_orphanet_95716 Thyroglobulin synthesis defect MONDO:MONDO:0010137,MedGen:C0342196,OMIM:274900,Orphanet:95716 2 2 1.0000 condition_record_support_limited 20 0 0 Thyroglobulin_synthesis_defect 2 low_record_burden_interpretation_limited low_record_burden_gene DST lethal_congenital_contracture_syndrome_12 LETHAL CONGENITAL CONTRACTURE SYNDROME 12 MedGen:CN380904,OMIM:621511 2 2 1.0000 condition_record_support_limited 20 0 2 LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_12 196 large_gene_or_donor_burden_stress_case donor_burden_stress DSPP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSPP medgen_c4016014 Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 MedGen:C4016014 2 2 1.0000 condition_record_support_limited 20 0 1 Deafness,_autosomal_dominant_nonsyndromic_sensorineural_39,_with_dentinogenesis_imperfecta_1 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSPP mondo_mondo_0011571_medgen_c1854146_omim_605594_orphanet_166260 Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 MONDO:MONDO:0011571,MedGen:C1854146,OMIM:605594,Orphanet:166260 2 2 1.0000 condition_record_support_limited 20 0 1 Deafness,_autosomal_dominant_39,_with_dentinogenesis_imperfecta_1 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSP human_phenotype_ontology_hp_0012819_mondo_mondo_0004496_medgen_c0027059 Myocarditis Human_Phenotype_Ontology:HP:0012819,MONDO:MONDO:0004496,MedGen:C0027059 2 2 1.0000 condition_record_support_limited 20 0 1 Myocarditis 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSG2 mondo_mondo_0016342_medgen_c4274968_omim_ps107970_orphanet_217656 Familial isolated arrhythmogenic right ventricular dysplasia MONDO:MONDO:0016342,MedGen:C4274968,OMIM:PS107970,Orphanet:217656 2 2 1.0000 condition_record_support_limited 20 0 0 Familial_isolated_arrhythmogenic_right_ventricular_dysplasia 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSG1 mondo_mondo_0019272_medgen_c0406757_orphanet_79357 Hereditary palmoplantar keratoderma MONDO:MONDO:0019272,MedGen:C0406757,Orphanet:79357 2 2 1.0000 condition_record_support_limited 20 0 2 Hereditary_palmoplantar_keratoderma 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSG1 dsg1_related_disorder DSG1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 DSG1-related_disorder 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSE mondo_mondo_0012124_medgen_c1837371_omim_608800_orphanet_168593 Sudden infant death-dysgenesis of the testes syndrome MONDO:MONDO:0012124,MedGen:C1837371,OMIM:608800,Orphanet:168593 2 2 1.0000 condition_record_support_limited 20 0 0 Sudden_infant_death-dysgenesis_of_the_testes_syndrome 15 low_record_burden_interpretation_limited low_record_burden_gene DRC9 human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Diamond-Blackfan anemia Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 2 2 1.0000 condition_record_support_limited 20 0 1 Diamond-Blackfan_anemia 7 low_record_burden_interpretation_limited low_record_burden_gene DRC2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene DRC1 drc1_related_disorder DRC1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 DRC1-related_disorder 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DPYS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 31 compact_adjacent_exon_block_opportunity local_compact_architecture DPYS dpys_related_disorder DPYS-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 DPYS-related_disorder 31 compact_adjacent_exon_block_opportunity local_compact_architecture DPY19L2 condition_not_provided condition not provided .|MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 See_cases|not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene DPM3 mondo_mondo_0033556_medgen_c5436552_omim_618992 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 MONDO:MONDO:0033556,MedGen:C5436552,OMIM:618992 2 2 1.0000 condition_record_support_limited 20 0 2 Muscular_dystrophy-dystroglycanopathy_(congenital_with_impaired_intellectual_development),_type_B,_15 13 low_record_burden_interpretation_limited low_record_burden_gene DOP1A human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 2 2 1.0000 condition_record_support_limited 20 0 1 Severe_combined_immunodeficiency_disease 8 low_record_burden_interpretation_limited low_record_burden_gene DONSON human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 0 Microcephaly 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOK7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 144 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOCK8 mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 2 2 1.0000 condition_record_support_limited 20 0 0 Inherited_Immunodeficiency_Diseases 120 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DOCK7 dock7_related_disorder DOCK7-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 DOCK7-related_disorder 111 large_gene_or_donor_burden_stress_case donor_burden_stress DOCK3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene DOCK3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene DOCK3 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 2 2 1.0000 condition_record_support_limited 20 0 2 Hypotonia 11 low_record_burden_interpretation_limited low_record_burden_gene DOCK3 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 11 low_record_burden_interpretation_limited low_record_burden_gene DOCK11 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene DNMT3B mondo_mondo_0030355_medgen_c5561960_omim_619478 Facioscapulohumeral muscular dystrophy 4, digenic MONDO:MONDO:0030355,MedGen:C5561960,OMIM:619478 2 2 1.0000 condition_record_support_limited 20 0 1 Facioscapulohumeral_muscular_dystrophy_4,_digenic 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT3A mondo_mondo_0017366_medgen_c4274332_omim_ps168000_orphanet_29072 Hereditary pheochromocytoma and paraganglioma MONDO:MONDO:0017366,MedGen:C4274332,OMIM:PS168000,Orphanet:29072 2 2 1.0000 condition_record_support_limited 20 0 0 Hereditary_pheochromocytoma_and_paraganglioma 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM2 mondo_mondo_0010683_medgen_c0410203_omim_310400_orphanet_596 Severe X-linked myotubular myopathy MONDO:MONDO:0010683,MedGen:C0410203,OMIM:310400,Orphanet:596 2 2 1.0000 condition_record_support_limited 20 0 2 Severe_X-linked_myotubular_myopathy 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM2 dnm2_related_disorder DNM2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 DNM2-related_disorder 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1L mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 2 Seizure 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1 mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 2 2 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJC30 human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 2 2 1.0000 condition_record_support_limited 20 0 1 Optic_atrophy 9 low_record_burden_interpretation_limited low_record_burden_gene DNAJC30 mondo_mondo_0030309_medgen_c5543589_omim_ps619382 Leber hereditary optic neuropathy, autosomal recessive MONDO:MONDO:0030309,MedGen:C5543589,OMIM:PS619382 2 2 1.0000 condition_record_support_limited 20 0 1 Leber_hereditary_optic_neuropathy,_autosomal_recessive 9 low_record_burden_interpretation_limited low_record_burden_gene DNAJC3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene DNAJC21 dnajc21_related_disorder DNAJC21-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 DNAJC21-related_disorder 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJC19 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJB2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJB2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJB2 dnajb2_related_disorder DNAJB2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 DNAJB2-related_disorder 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAI2 dnai2_related_disorder DNAI2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 DNAI2-related_disorder 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAH9 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 2 2 1.0000 condition_record_support_limited 20 0 2 Primary_ciliary_dyskinesia 157 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH9 mondo_mondo_0005453_medgen_c0152021 Congenital heart disease MONDO:MONDO:0005453,MedGen:C0152021 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_heart_disease 157 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH5 mondo_mondo_0012748_medgen_c2678473_omim_611884_orphanet_244 Primary ciliary dyskinesia 7 MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244 2 2 1.0000 condition_record_support_limited 20 0 2 Primary_ciliary_dyskinesia_7 1093 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH5 human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Heterotaxy Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 2 2 1.0000 condition_record_support_limited 20 0 2 Heterotaxy 1093 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH17 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 23 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH17 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 1.0000 condition_record_support_limited 20 0 0 Short_stature 23 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH17 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 2 2 1.0000 condition_record_support_limited 20 0 2 Male_infertility 23 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH14 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene DNAH12 mondo_mondo_0978302_medgen_c6012726_omim_621209 Spermatogenic failure 100 MONDO:MONDO:0978302,MedGen:C6012726,OMIM:621209 2 2 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_100 2 low_record_burden_interpretation_limited low_record_burden_gene DNAH11 mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 Kartagener syndrome MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 2 2 1.0000 condition_record_support_limited 20 0 2 Kartagener_syndrome 574 large_gene_or_donor_burden_stress_case donor_burden_stress DNAAF2 mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 Kartagener syndrome MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 2 2 1.0000 condition_record_support_limited 20 0 2 Kartagener_syndrome 50 compact_adjacent_exon_block_opportunity local_compact_architecture DNAAF19 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF1 mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 Kartagener syndrome MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 2 2 1.0000 condition_record_support_limited 20 0 2 Kartagener_syndrome 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DMRT2 condition_not_provided condition not provided .|MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 See_cases|not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene DMP1 human_phenotype_ontology_hp_0004912_mondo_mondo_0024300_mesh_d063730_medgen_c1704375 Hypophosphatemic rickets Human_Phenotype_Ontology:HP:0004912,MONDO:MONDO:0024300,MeSH:D063730,MedGen:C1704375 2 2 1.0000 condition_record_support_limited 20 0 0 Hypophosphatemic_rickets 18 low_record_burden_interpretation_limited low_record_burden_gene DMGDH mondo_mondo_0011610_medgen_c1853892_omim_605850_orphanet_243343 Dimethylglycine dehydrogenase deficiency MONDO:MONDO:0011610,MedGen:C1853892,OMIM:605850,Orphanet:243343 2 2 1.0000 condition_record_support_limited 20 0 1 Dimethylglycine_dehydrogenase_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene DMD human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Motor delay Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 2 2 1.0000 condition_record_support_limited 20 0 2 Motor_delay 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD human_phenotype_ontology_hp_0030234_medgen_c4022565 Highly elevated creatine kinase Human_Phenotype_Ontology:HP:0030234,MedGen:C4022565 2 2 1.0000 condition_record_support_limited 20 0 1 Highly_elevated_creatine_kinase 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD human_phenotype_ontology_hp_0003322_human_phenotype_ontology_hp_0003458_human_phenotype_ontology_hp_0003711_human_phenotype_ontology_hp_0009021_medgen_c4021726 EMG: myopathic abnormalities Human_Phenotype_Ontology:HP:0003322,Human_Phenotype_Ontology:HP:0003458,Human_Phenotype_Ontology:HP:0003711,Human_Phenotype_Ontology:HP:0009021,MedGen:C4021726 2 2 1.0000 condition_record_support_limited 20 0 2 EMG:_myopathic_abnormalities 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMC1 human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Azoospermia Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 2 2 1.0000 condition_record_support_limited 20 0 0 Azoospermia 5 low_record_burden_interpretation_limited low_record_burden_gene DMAC2L human_phenotype_ontology_hp_0040144_mondo_mondo_0009370_medgen_c1855995_omim_236792_orphanet_79314 L-2-hydroxyglutaric aciduria Human_Phenotype_Ontology:HP:0040144,MONDO:MONDO:0009370,MedGen:C1855995,OMIM:236792,Orphanet:79314 2 2 1.0000 condition_record_support_limited 20 0 1 L-2-hydroxyglutaric_aciduria 2 low_record_burden_interpretation_limited low_record_burden_gene DLX5 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene DLX5 dlx5_related_disorder DLX5-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 DLX5-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene DLX3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene DLX3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 8 low_record_burden_interpretation_limited low_record_burden_gene DLL1 dll1_related_disorder DLL1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 DLL1-related_disorder 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLG5 mondo_mondo_0958205_medgen_c5882751_omim_620703 Yuksel-Vogel-Bauer syndrome MONDO:MONDO:0958205,MedGen:C5882751,OMIM:620703 2 2 1.0000 condition_record_support_limited 20 0 0 Yuksel-Vogel-Bauer_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene DLG4 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_delay 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLG3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 40 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture DLD mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLD dld_related_disorder DLD-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 DLD-related_disorder 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DKK3 human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Autosomal dominant polycystic liver disease Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 2 2 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_polycystic_liver_disease 2 low_record_burden_interpretation_limited low_record_burden_gene DIPK1A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIP2B mondo_mondo_0007634_medgen_c1969893_omim_136630 Intellectual disability, FRA12A type MONDO:MONDO:0007634,MedGen:C1969893,OMIM:136630 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_FRA12A_type 2 low_record_burden_interpretation_limited low_record_burden_gene DIP2A mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene DIO1 mondo_mondo_0030839_medgen_c5676976_omim_619855 Thyroid hormone metabolism, abnormal, 2 MONDO:MONDO:0030839,MedGen:C5676976,OMIM:619855 2 2 1.0000 condition_record_support_limited 20 0 0 Thyroid_hormone_metabolism,_abnormal,_2 2 low_record_burden_interpretation_limited low_record_burden_gene DICER1 human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Rhabdomyosarcoma Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 2 2 1.0000 condition_record_support_limited 20 0 2 Rhabdomyosarcoma 833 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control DIAPH1 human_phenotype_ontology_hp_0032807_medgen_c0159020 Neonatal seizure Human_Phenotype_Ontology:HP:0032807,MedGen:C0159020 2 2 1.0000 condition_record_support_limited 20 0 1 Neonatal_seizure 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIAPH1 human_phenotype_ontology_hp_0040185_medgen_c2751260 Macrothrombocytopenia Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260 2 2 1.0000 condition_record_support_limited 20 0 1 Macrothrombocytopenia 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIAPH1 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 1.0000 condition_record_support_limited 20 0 2 Hearing_impairment 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIAPH1 diaph1_related_disorder DIAPH1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 DIAPH1-related_disorder 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHX38 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 4 low_record_burden_interpretation_limited low_record_burden_gene DHX37 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene DHX37 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 2 Seizure 15 low_record_burden_interpretation_limited low_record_burden_gene DHX37 dhx37_related_disorder DHX37-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 DHX37-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene DHX30 human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 2 2 1.0000 condition_record_support_limited 20 0 2 Strabismus 19 low_record_burden_interpretation_limited low_record_burden_gene DHX30 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 1.0000 condition_record_support_limited 20 0 2 Short_stature 19 low_record_burden_interpretation_limited low_record_burden_gene DHX30 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 19 low_record_burden_interpretation_limited low_record_burden_gene DHX30 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 19 low_record_burden_interpretation_limited low_record_burden_gene DHX16 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 2 Seizure 7 low_record_burden_interpretation_limited low_record_burden_gene DHTKD1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHTKD1 mondo_mondo_0012231_medgen_c4721887_omim_609260_orphanet_99947 Charcot-Marie-Tooth disease type 2A2 MONDO:MONDO:0012231,MedGen:C4721887,OMIM:609260,Orphanet:99947 2 2 1.0000 condition_record_support_limited 20 0 2 Charcot-Marie-Tooth_disease_type_2A2 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHRS3 dhrs3_deficiency DHRS3 Deficiency . 2 2 1.0000 condition_record_support_limited 20 0 1 DHRS3_Deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene DHPS mondo_mondo_0032775_medgen_c5193119_omim_618480 Neurodevelopmental disorder with seizures and speech and walking impairment MONDO:MONDO:0032775,MedGen:C5193119,OMIM:618480 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder_with_seizures_and_speech_and_walking_impairment 5 low_record_burden_interpretation_limited low_record_burden_gene DHPS dhps_related_disorder DHPS-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 DHPS-related_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene DHH condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene DHDDS human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHDDS mondo_mondo_0800353_medgen_c4693133 Congenital disorder of glycosylation, type Ibb MONDO:MONDO:0800353,MedGen:C4693133 2 2 1.0000 condition_record_support_limited 20 0 1 Congenital_disorder_of_glycosylation,_type_Ibb 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHCR7 human_phenotype_ontology_hp_0001422_human_phenotype_ontology_hp_0001518_human_phenotype_ontology_hp_0008849_human_phenotype_ontology_hp_0008919_human_phenotype_ontology_hp_0008927_medgen_c0235991 Small for gestational age Human_Phenotype_Ontology:HP:0001422,Human_Phenotype_Ontology:HP:0001518,Human_Phenotype_Ontology:HP:0008849,Human_Phenotype_Ontology:HP:0008919,Human_Phenotype_Ontology:HP:0008927,MedGen:C0235991 2 2 1.0000 condition_record_support_limited 20 0 2 Small_for_gestational_age 300 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHCR7 human_phenotype_ontology_hp_0011451_medgen_c2677180 Primary microcephaly Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 2 2 1.0000 condition_record_support_limited 20 0 2 Primary_microcephaly 300 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHCR7 human_phenotype_ontology_hp_0010569_medgen_c1849185 Elevated circulating 7-dehydrocholesterol concentration Human_Phenotype_Ontology:HP:0010569,MedGen:C1849185 2 2 1.0000 condition_record_support_limited 20 0 2 Elevated_circulating_7-dehydrocholesterol_concentration 300 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHCR7 human_phenotype_ontology_hp_0001846_human_phenotype_ontology_hp_0001856_human_phenotype_ontology_hp_0003773_human_phenotype_ontology_hp_0004683_human_phenotype_ontology_hp_0004685_human_phenotype_ontology_hp_0004691_human_phenotype_ontology_hp_0004697_human_phenotype_ontology_hp_0004703_human_phenotype_ontology_hp_0008086_human_phenotype_ontology_hp_0008123_medgen_c4551570 2-3 toe syndactyly Human_Phenotype_Ontology:HP:0001846,Human_Phenotype_Ontology:HP:0001856,Human_Phenotype_Ontology:HP:0003773,Human_Phenotype_Ontology:HP:0004683,Human_Phenotype_Ontology:HP:0004685,Human_Phenotype_Ontology:HP:0004691,Human_Phenotype_Ontology:HP:0004697,Human_Phenotype_Ontology:HP:0004703,Human_Phenotype_Ontology:HP:0008086,Human_Phenotype_Ontology:HP:0008123,MedGen:C4551570 2 2 1.0000 condition_record_support_limited 20 0 2 2-3_toe_syndactyly 300 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DGUOK mondo_mondo_0024193_medgen_c4310735_omim_ps617068 Portal hypertension, noncirrhotic MONDO:MONDO:0024193,MedGen:C4310735,OMIM:PS617068 2 2 1.0000 condition_record_support_limited 20 0 2 Portal_hypertension,_noncirrhotic 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DES mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 Neuromuscular disease MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 2 2 1.0000 condition_record_support_limited 20 0 2 Neuromuscular_disease 123 compact_adjacent_exon_block_opportunity local_compact_architecture DES human_phenotype_ontology_hp_0003715_mondo_mondo_0018943_medgen_c2678065_omim_ps601419_orphanet_593 Myofibrillar myopathy Human_Phenotype_Ontology:HP:0003715,MONDO:MONDO:0018943,MedGen:C2678065,OMIM:PS601419,Orphanet:593 2 2 1.0000 condition_record_support_limited 20 0 2 Myofibrillar_myopathy 123 compact_adjacent_exon_block_opportunity local_compact_architecture DEPDC5 mondo_mondo_0005384_mesh_d004828_medgen_c0014547 Focal epilepsy MONDO:MONDO:0005384,MeSH:D004828,MedGen:C0014547 2 2 1.0000 condition_record_support_limited 20 0 2 Focal_epilepsy 382 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DEPDC5 mondo_mondo_0020300_medgen_c3696898_orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy MONDO:MONDO:0020300,MedGen:C3696898,Orphanet:98784 2 2 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_nocturnal_frontal_lobe_epilepsy 382 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DEPDC5 autosomal_dominant_epilepsy Autosomal dominant epilepsy . 2 2 1.0000 condition_record_support_limited 20 0 2 Autosomal_dominant_epilepsy 382 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DENND5A dennd5a_related_disorder DENND5A-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 DENND5A-related_disorder 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DEGS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 19 low_record_burden_interpretation_limited low_record_burden_gene DEGS1 degs1_related_hypomyelinating_leukodystrophy DEGS1-related Hypomyelinating Leukodystrophy . 2 2 1.0000 condition_record_support_limited 20 0 1 DEGS1-related_Hypomyelinating_Leukodystrophy 19 low_record_burden_interpretation_limited low_record_burden_gene DEAF1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX6 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene DDX53 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene DDX3X mondo_mondo_0018709_medgen_c5681121_orphanet_457260 X-linked intellectual disability-hypotonia-movement disorder syndrome MONDO:MONDO:0018709,MedGen:C5681121,Orphanet:457260 2 2 1.0000 condition_record_support_limited 20 0 2 X-linked_intellectual_disability-hypotonia-movement_disorder_syndrome 366 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX3X human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 366 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX3X human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 366 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX3X human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 366 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX3X mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_cerebellar_hypoplasia 366 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDRGK1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene DDRGK1 mondo_mondo_0011252_medgen_c1865185_omim_602557_orphanet_93352 Spondyloepimetaphyseal dysplasia, Shohat type MONDO:MONDO:0011252,MedGen:C1865185,OMIM:602557,Orphanet:93352 2 2 1.0000 condition_record_support_limited 20 0 1 Spondyloepimetaphyseal_dysplasia,_Shohat_type 3 low_record_burden_interpretation_limited low_record_burden_gene DDOST condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene DDHD2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDHD2 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 2 2 1.0000 condition_record_support_limited 20 0 2 Hereditary_spastic_paraplegia 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCX human_phenotype_ontology_hp_0002060_medgen_c4021762 Abnormal cerebral morphology Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 2 2 1.0000 condition_record_support_limited 20 0 1 Abnormal_cerebral_morphology 165 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCTN1 mondo_mondo_0024257_medgen_c0270763_orphanet_98505 Hereditary motor neuron disease MONDO:MONDO:0024257,MedGen:C0270763,Orphanet:98505 2 2 1.0000 condition_record_support_limited 20 0 2 Hereditary_motor_neuron_disease 14 low_record_burden_interpretation_limited low_record_burden_gene DCTN1 human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Amyotrophic lateral sclerosis Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 2 2 1.0000 condition_record_support_limited 20 0 1 Amyotrophic_lateral_sclerosis 14 low_record_burden_interpretation_limited low_record_burden_gene DCLRE1C dclre1c_related_disorder DCLRE1C-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 DCLRE1C-related_disorder 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCLRE1B mondo_mondo_0009213_medgen_c3468041_omim_227645_orphanet_84 Fanconi anemia complementation group C MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645,Orphanet:84 2 2 1.0000 condition_record_support_limited 20 0 0 Fanconi_anemia_complementation_group_C 6 low_record_burden_interpretation_limited low_record_burden_gene DCHS1 mondo_mondo_0011915_medgen_c1843003_omim_607829 Mitral valve prolapse, myxomatous 2 MONDO:MONDO:0011915,MedGen:C1843003,OMIM:607829 2 2 1.0000 condition_record_support_limited 20 0 1 Mitral_valve_prolapse,_myxomatous_2 40 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DCC mondo_mondo_0054602_medgen_c4479640_omim_617542 Gaze palsy, familial horizontal, with progressive scoliosis, 2 MONDO:MONDO:0054602,MedGen:C4479640,OMIM:617542 2 2 1.0000 condition_record_support_limited 20 0 1 Gaze_palsy,_familial_horizontal,_with_progressive_scoliosis,_2 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCAF17 mondo_mondo_0018307_medgen_c2931845_omim_ps234200_orphanet_385 Neurodegeneration with brain iron accumulation MONDO:MONDO:0018307,MedGen:C2931845,OMIM:PS234200,Orphanet:385 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodegeneration_with_brain_iron_accumulation 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DAZL idiopathic_male_infertility Idiopathic male infertility . 2 2 1.0000 condition_record_support_limited 20 0 0 Idiopathic_male_infertility 2 low_record_burden_interpretation_limited low_record_burden_gene DARS2 human_phenotype_ontology_hp_0007055_human_phenotype_ontology_hp_0007141_human_phenotype_ontology_hp_0007237_medgen_c1112256 Sensorimotor neuropathy Human_Phenotype_Ontology:HP:0007055,Human_Phenotype_Ontology:HP:0007141,Human_Phenotype_Ontology:HP:0007237,MedGen:C1112256 2 2 1.0000 condition_record_support_limited 20 0 2 Sensorimotor_neuropathy 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DARS2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DARS2 human_phenotype_ontology_hp_0002166_medgen_c1849134 Impaired vibration sensation in the lower limbs Human_Phenotype_Ontology:HP:0002166,MedGen:C1849134 2 2 1.0000 condition_record_support_limited 20 0 2 Impaired_vibration_sensation_in_the_lower_limbs 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DARS2 human_phenotype_ontology_hp_0000822_human_phenotype_ontology_hp_0004949_human_phenotype_ontology_hp_0005126_mondo_mondo_0005044_medgen_c0020538 Hypertensive disorder Human_Phenotype_Ontology:HP:0000822,Human_Phenotype_Ontology:HP:0004949,Human_Phenotype_Ontology:HP:0005126,MONDO:MONDO:0005044,MedGen:C0020538 2 2 1.0000 condition_record_support_limited 20 0 2 Hypertensive_disorder 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DARS2 human_phenotype_ontology_hp_0001368_human_phenotype_ontology_hp_0001997_mondo_mondo_0005393_medgen_c0018099 Gout Human_Phenotype_Ontology:HP:0001368,Human_Phenotype_Ontology:HP:0001997,MONDO:MONDO:0005393,MedGen:C0018099 2 2 1.0000 condition_record_support_limited 20 0 2 Gout 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DARS2 human_phenotype_ontology_hp_0002141_human_phenotype_ontology_hp_0100683_medgen_c1836150 Gait imbalance Human_Phenotype_Ontology:HP:0002141,Human_Phenotype_Ontology:HP:0100683,MedGen:C1836150 2 2 1.0000 condition_record_support_limited 20 0 2 Gait_imbalance 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DARS2 human_phenotype_ontology_hp_0002066_human_phenotype_ontology_hp_0002379_medgen_c0751837 Gait ataxia Human_Phenotype_Ontology:HP:0002066,Human_Phenotype_Ontology:HP:0002379,MedGen:C0751837 2 2 1.0000 condition_record_support_limited 20 0 2 Gait_ataxia 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DARS2 human_phenotype_ontology_hp_0003482_medgen_c4025609 EMG: axonal abnormality Human_Phenotype_Ontology:HP:0003482,MedGen:C4025609 2 2 1.0000 condition_record_support_limited 20 0 2 EMG:_axonal_abnormality 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DARS2 human_phenotype_ontology_hp_0001310_medgen_c0234162 Dysmetria Human_Phenotype_Ontology:HP:0001310,MedGen:C0234162 2 2 1.0000 condition_record_support_limited 20 0 2 Dysmetria 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DARS2 human_phenotype_ontology_hp_0002355_human_phenotype_ontology_hp_0007101_human_phenotype_ontology_hp_0009030_medgen_c0311394 Difficulty walking Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394 2 2 1.0000 condition_record_support_limited 20 0 2 Difficulty_walking 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DARS2 human_phenotype_ontology_hp_0001762_mondo_mondo_0007342_medgen_c0009081_omim_119800_orphanet_199315 Clubfoot Human_Phenotype_Ontology:HP:0001762,MONDO:MONDO:0007342,MedGen:C0009081,OMIM:119800,Orphanet:199315 2 2 1.0000 condition_record_support_limited 20 0 2 Clubfoot 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DARS2 human_phenotype_ontology_hp_0002120_human_phenotype_ontology_hp_0006823_human_phenotype_ontology_hp_0006835_medgen_c4551583 Cerebral cortical atrophy Human_Phenotype_Ontology:HP:0002120,Human_Phenotype_Ontology:HP:0006823,Human_Phenotype_Ontology:HP:0006835,MedGen:C4551583 2 2 1.0000 condition_record_support_limited 20 0 2 Cerebral_cortical_atrophy 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DARS2 human_phenotype_ontology_hp_0007222_human_phenotype_ontology_hp_0007305_medgen_c0338474 CNS demyelination Human_Phenotype_Ontology:HP:0007222,Human_Phenotype_Ontology:HP:0007305,MedGen:C0338474 2 2 1.0000 condition_record_support_limited 20 0 2 CNS_demyelination 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DARS2 human_phenotype_ontology_hp_0001760_human_phenotype_ontology_hp_0010216_human_phenotype_ontology_hp_0010611_medgen_c5399834 Abnormal foot morphology Human_Phenotype_Ontology:HP:0001760,Human_Phenotype_Ontology:HP:0010216,Human_Phenotype_Ontology:HP:0010611,MedGen:C5399834 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_foot_morphology 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DARS1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene DAP3 mondo_mondo_0976232_medgen_c6012699_omim_621101 Perrault syndrome 7 MONDO:MONDO:0976232,MedGen:C6012699,OMIM:621101 2 2 1.0000 condition_record_support_limited 20 0 2 Perrault_syndrome_7 8 low_record_burden_interpretation_limited low_record_burden_gene DAP3 mondo_mondo_0009300_medgen_c4551721_omim_233400_orphanet_2855_orphanet_642945 Perrault syndrome 1 MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400,Orphanet:2855,Orphanet:642945 2 2 1.0000 condition_record_support_limited 20 0 2 Perrault_syndrome_1 8 low_record_burden_interpretation_limited low_record_burden_gene DAP3 mondo_mondo_0011243_medgen_c1865267_omim_602531_orphanet_79094 Grange syndrome MONDO:MONDO:0011243,MedGen:C1865267,OMIM:602531,Orphanet:79094 2 2 1.0000 condition_record_support_limited 20 0 0 Grange_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene DAGLA condition_not_provided condition not provided .|MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 See_cases|not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene D2HGDH human_phenotype_ontology_hp_0012321_mondo_mondo_0010924_medgen_c1833429_omim_ps600721_orphanet_79315 D-2-hydroxyglutaric aciduria Human_Phenotype_Ontology:HP:0012321,MONDO:MONDO:0010924,MedGen:C1833429,OMIM:PS600721,Orphanet:79315 2 2 1.0000 condition_record_support_limited 20 0 0 D-2-hydroxyglutaric_aciduria 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP7B1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP4V2 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP27B1 mondo_mondo_0007462_medgen_c1868685_omim_126200_omim_ps126200 Multiple sclerosis, susceptibility to MONDO:MONDO:0007462,MedGen:C1868685,OMIM:126200,OMIM:PS126200 2 2 1.0000 condition_record_support_limited 20 0 2 Multiple_sclerosis,_susceptibility_to 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP27A1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 214 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP26C1 mondo_mondo_0013997_medgen_c3554246_omim_614974_orphanet_398166_orphanet_398189 Focal facial dermal dysplasia type IV MONDO:MONDO:0013997,MedGen:C3554246,OMIM:614974,Orphanet:398166,Orphanet:398189 2 2 1.0000 condition_record_support_limited 20 0 0 Focal_facial_dermal_dysplasia_type_IV 3 low_record_burden_interpretation_limited low_record_burden_gene CYP24A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP21A2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP1B1 medgen_c3278153 Glaucoma, primary open angle, juvenile-onset MedGen:C3278153 2 2 1.0000 condition_record_support_limited 20 0 2 Glaucoma,_primary_open_angle,_juvenile-onset 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP17A1 medgen_c2936858_omim_201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY MedGen:C2936858,OMIM:201910 2 2 1.0000 condition_record_support_limited 20 0 2 ADRENAL_HYPERPLASIA,_CONGENITAL,_DUE_TO_21-HYDROXYLASE_DEFICIENCY 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP17A1 mondo_mondo_0800378_medgen_c3277849 17,20-lyase deficiency, isolated MONDO:MONDO:0800378,MedGen:C3277849 2 2 1.0000 condition_record_support_limited 20 0 2 17,20-lyase_deficiency,_isolated 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYLD cyld_related_disorder CYLD-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 CYLD-related_disorder 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYCS human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 2 2 1.0000 condition_record_support_limited 20 0 1 Thrombocytopenia 7 low_record_burden_interpretation_limited low_record_burden_gene CYC1 mondo_mondo_0014194_medgen_c3809553_omim_615453 Mitochondrial complex III deficiency nuclear type 6 MONDO:MONDO:0014194,MedGen:C3809553,OMIM:615453 2 2 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_III_deficiency_nuclear_type_6 2 low_record_burden_interpretation_limited low_record_burden_gene CYBB cybb_related_disorder CYBB-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 CYBB-related_disorder 206 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYBA cyba_related_disorder CYBA-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CYBA-related_disorder 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYB5R3 mondo_mondo_0018963_medgen_c0272087_orphanet_621 Hereditary methemoglobinemia MONDO:MONDO:0018963,MedGen:C0272087,Orphanet:621 2 2 1.0000 condition_record_support_limited 20 0 2 Hereditary_methemoglobinemia 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYB5R3 cyb5r3_related_disorder CYB5R3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CYB5R3-related_disorder 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYB561 mondo_mondo_0020751_medgen_c4748569_omim_618182 Orthostatic hypotension 2 MONDO:MONDO:0020751,MedGen:C4748569,OMIM:618182 2 2 1.0000 condition_record_support_limited 20 0 0 Orthostatic_hypotension_2 2 low_record_burden_interpretation_limited low_record_burden_gene CXCR2 mondo_mondo_0030374_medgen_c5543622_omim_619407 WHIM syndrome 2 MONDO:MONDO:0030374,MedGen:C5543622,OMIM:619407 2 2 1.0000 condition_record_support_limited 20 0 0 WHIM_syndrome_2 6 low_record_burden_interpretation_limited low_record_burden_gene CWC27 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CWC27 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUX2 cux2_related_disorder CUX2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 CUX2-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene CUX1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUX1 cux1_related_disorder CUX1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 CUX1-related_disorder 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL3 neurodevelopmental_disorder_without_autism_with_seizures Neurodevelopmental disorder without autism with seizures . 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_without_autism_with_seizures 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL3 neurodevelopmental_disorder_without_autism_or_seizures NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES . 2 2 1.0000 condition_record_support_limited 20 0 1 NEURODEVELOPMENTAL_DISORDER_WITHOUT_AUTISM_OR_SEIZURES 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSF mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSD condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSC mondo_mondo_0800465_medgen_cn375926 CTSC-related disorder MONDO:MONDO:0800465,MedGen:CN375926 2 2 1.0000 condition_record_support_limited 20 0 2 CTSC-related_disorder 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTRC condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided|not_specified 17 low_record_burden_interpretation_limited low_record_burden_gene CTNS renal_tubulopathies Renal tubulopathies . 2 2 1.0000 condition_record_support_limited 20 0 2 Renal_tubulopathies 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNS medgen_c2749685 Cystinosis, atypical nephropathic MedGen:C2749685 2 2 1.0000 condition_record_support_limited 20 0 1 Cystinosis,_atypical_nephropathic 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNND2 ctnnd2_related_disorder CTNND2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 CTNND2-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene CTNNB1 human_phenotype_ontology_hp_0000115_human_phenotype_ontology_hp_0002667_mondo_mondo_0006058_mesh_d009396_medgen_c0027708_orphanet_654 Nephroblastoma Human_Phenotype_Ontology:HP:0000115,Human_Phenotype_Ontology:HP:0002667,MONDO:MONDO:0006058,MeSH:D009396,MedGen:C0027708,Orphanet:654 2 2 1.0000 condition_record_support_limited 20 0 2 Nephroblastoma 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 2 2 1.0000 condition_record_support_limited 20 0 1 Malignant_tumor_of_urinary_bladder 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 human_phenotype_ontology_hp_0030429_mondo_mondo_0017340_medgen_c1367536_orphanet_289596 Juvenile nasopharyngeal angiofibroma Human_Phenotype_Ontology:HP:0030429,MONDO:MONDO:0017340,MedGen:C1367536,Orphanet:289596 2 2 1.0000 condition_record_support_limited 20 0 0 Juvenile_nasopharyngeal_angiofibroma 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 mondo_mondo_0007589_medgen_c1851402_omim_133780_orphanet_891_orphanet_90050 Exudative vitreoretinopathy 1 MONDO:MONDO:0007589,MedGen:C1851402,OMIM:133780,Orphanet:891,Orphanet:90050 2 2 1.0000 condition_record_support_limited 20 0 2 Exudative_vitreoretinopathy_1 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 medgen_c1851124_omim_135290_orphanet_873 Desmoid disease, hereditary MedGen:C1851124,OMIM:135290,Orphanet:873 2 2 1.0000 condition_record_support_limited 20 0 1 Desmoid_disease,_hereditary 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNA1 ctnna1_related_disorder CTNNA1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 CTNNA1-related_disorder 233 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTLA4 mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 2 2 1.0000 condition_record_support_limited 20 0 2 Inherited_Immunodeficiency_Diseases 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTLA4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTLA4 ctla4_related_disorder CTLA4-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 CTLA4-related_disorder 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTCF mondo_mondo_0020526_medgen_c5925108_orphanet_99887 Acute megakaryoblastic leukemia in down syndrome MONDO:MONDO:0020526,MedGen:C5925108,Orphanet:99887 2 2 1.0000 condition_record_support_limited 20 0 0 Acute_megakaryoblastic_leukemia_in_down_syndrome 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSTB human_phenotype_ontology_hp_0100660_medgen_c0013384 Dyskinesia Human_Phenotype_Ontology:HP:0100660,MedGen:C0013384 2 2 1.0000 condition_record_support_limited 20 0 2 Dyskinesia 20 compact_adjacent_exon_block_opportunity local_compact_architecture CSPP1 mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 Meckel-Gruber syndrome MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 2 2 1.0000 condition_record_support_limited 20 0 2 Meckel-Gruber_syndrome 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 2 Seizure 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B csnk2b_related_neurodevelopmental_disorder CSNK2B-related neurodevelopmental disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CSNK2B-related_neurodevelopmental_disorder 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2A1 csnk2a1_related_disorder CSNK2A1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CSNK2A1-related_disorder 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK1D mondo_mondo_0014088_medgen_c3808874_omim_615224_orphanet_164736 Advanced sleep phase syndrome 2 MONDO:MONDO:0014088,MedGen:C3808874,OMIM:615224,Orphanet:164736 2 2 1.0000 condition_record_support_limited 20 0 0 Advanced_sleep_phase_syndrome_2 2 low_record_burden_interpretation_limited low_record_burden_gene CSF3R csf3r_related_disorder CSF3R-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CSF3R-related_disorder 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSF2RA csf2ra_related_disorder CSF2RA-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CSF2RA-related_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSF1R mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSF1R human_phenotype_ontology_hp_0002511_human_phenotype_ontology_hp_0006878_human_phenotype_ontology_hp_0007213_mondo_mondo_0004975_mesh_d000544_medgen_c0002395_orphanet_1020 Alzheimer disease Human_Phenotype_Ontology:HP:0002511,Human_Phenotype_Ontology:HP:0006878,Human_Phenotype_Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020 2 2 1.0000 condition_record_support_limited 20 0 0 Alzheimer_disease 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSDE1 csde1_associated_disorder CSDE1-associated disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 CSDE1-associated_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene CRYGS condition_not_provided condition not provided .|MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 See_cases|not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene CRYGD human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 2 2 1.0000 condition_record_support_limited 20 0 2 Developmental_cataract 17 low_record_burden_interpretation_limited low_record_burden_gene CRYGC human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 2 2 1.0000 condition_record_support_limited 20 0 1 Developmental_cataract 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRYBB3 human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 2 2 1.0000 condition_record_support_limited 20 0 1 Developmental_cataract 6 low_record_burden_interpretation_limited low_record_burden_gene CRYBA4 human_phenotype_ontology_hp_0011142_mondo_mondo_0011060_medgen_c1832423_omim_601371_orphanet_91492 Early-onset non-syndromic cataract Human_Phenotype_Ontology:HP:0011142,MONDO:MONDO:0011060,MedGen:C1832423,OMIM:601371,Orphanet:91492 2 2 1.0000 condition_record_support_limited 20 0 0 Early-onset_non-syndromic_cataract 20 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture CRYAB condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene CRYAA cryaa_related_disorder CRYAA-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CRYAA-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene CRX mondo_mondo_0019353_medgen_c0271093_orphanet_827 Stargardt disease MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827 2 2 1.0000 condition_record_support_limited 20 0 0 Stargardt_disease 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRX mondo_mondo_0008764_medgen_c2931258_omim_204000_orphanet_65 Leber congenital amaurosis 1 MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65 2 2 1.0000 condition_record_support_limited 20 0 1 Leber_congenital_amaurosis_1 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRX mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 2 2 1.0000 condition_record_support_limited 20 0 0 Leber_congenital_amaurosis 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRX mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRX crx_related_disorder CRX-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 CRX-related_disorder 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRIPT mondo_mondo_0009876_medgen_c0342573_omim_262400_orphanet_231662_orphanet_631 Ateleiotic dwarfism MONDO:MONDO:0009876,MedGen:C0342573,OMIM:262400,Orphanet:231662,Orphanet:631 2 2 1.0000 condition_record_support_limited 20 0 2 Ateleiotic_dwarfism 11 low_record_burden_interpretation_limited low_record_burden_gene CRELD1 mondo_mondo_0013746_medgen_c3280777_omim_614429 Ventricular septal defect 1 MONDO:MONDO:0013746,MedGen:C3280777,OMIM:614429 2 2 1.0000 condition_record_support_limited 20 0 0 Ventricular_septal_defect_1 14 low_record_burden_interpretation_limited low_record_burden_gene CRELD1 mondo_mondo_0014344_medgen_c4014310_omim_615779 Congenital heart defects, multiple types, 4 MONDO:MONDO:0014344,MedGen:C4014310,OMIM:615779 2 2 1.0000 condition_record_support_limited 20 0 0 Congenital_heart_defects,_multiple_types,_4 14 low_record_burden_interpretation_limited low_record_burden_gene CREBBP human_phenotype_ontology_hp_0001172_mondo_mondo_0008561_medgen_c0575897_omim_188100 Thumb deformity Human_Phenotype_Ontology:HP:0001172,MONDO:MONDO:0008561,MedGen:C0575897,OMIM:188100 2 2 1.0000 condition_record_support_limited 20 0 2 Thumb_deformity 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CREBBP medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 2 2 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_intellectual_disability 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CREB3L3 mondo_mondo_0859149_medgen_c5543398_omim_619324 Hypertriglyceridemia 2 MONDO:MONDO:0859149,MedGen:C5543398,OMIM:619324 2 2 1.0000 condition_record_support_limited 20 0 1 Hypertriglyceridemia_2 18 low_record_burden_interpretation_limited low_record_burden_gene CRB2 human_phenotype_ontology_hp_0012588_mondo_mondo_0044765_medgen_c0403397 Steroid-resistant nephrotic syndrome Human_Phenotype_Ontology:HP:0012588,MONDO:MONDO:0044765,MedGen:C0403397 2 2 1.0000 condition_record_support_limited 20 0 2 Steroid-resistant_nephrotic_syndrome 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRB1 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_disorder 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRB1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRB1 mondo_mondo_0020242_medgen_c0339508 Hereditary macular dystrophy MONDO:MONDO:0020242,MedGen:C0339508 2 2 1.0000 condition_record_support_limited 20 0 2 Hereditary_macular_dystrophy 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRB1 crb1_related_maculopathy CRB1-related maculopathy . 2 2 1.0000 condition_record_support_limited 20 0 1 CRB1-related_maculopathy 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRADD human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 8 low_record_burden_interpretation_limited low_record_burden_gene CR2 mondo_mondo_0012584_medgen_c1970455_omim_610927 Systemic lupus erythematosus, susceptibility to, 9 MONDO:MONDO:0012584,MedGen:C1970455,OMIM:610927 2 2 1.0000 condition_record_support_limited 20 0 1 Systemic_lupus_erythematosus,_susceptibility_to,_9 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CR2 cr2_related_disorder CR2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 CR2-related_disorder 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPT1A cpt1a_related_disorder CPT1A-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CPT1A-related_disorder 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPSF1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene CPS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPS1 cps1_related_disorder CPS1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CPS1-related_disorder 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPOX mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 40 compact_adjacent_exon_block_opportunity local_compact_architecture CPOX mondo_mondo_0800180_medgen_cn322458 CPOX-related hereditary coproporphyria MONDO:MONDO:0800180,MedGen:CN322458 2 2 1.0000 condition_record_support_limited 20 0 1 CPOX-related_hereditary_coproporphyria 40 compact_adjacent_exon_block_opportunity local_compact_architecture CPOX cpox_related_disorder CPOX-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 CPOX-related_disorder 40 compact_adjacent_exon_block_opportunity local_compact_architecture CPNE1 mondo_mondo_0033312_medgen_c4539944_omim_617629 Schizophrenia 19 MONDO:MONDO:0033312,MedGen:C4539944,OMIM:617629 2 2 1.0000 condition_record_support_limited 20 0 0 Schizophrenia_19 2 low_record_burden_interpretation_limited low_record_burden_gene CPN1 mondo_mondo_0008910_medgen_c0398782_omim_212070 Anaphylotoxin inactivator deficiency MONDO:MONDO:0008910,MedGen:C0398782,OMIM:212070 2 2 1.0000 condition_record_support_limited 20 0 0 Anaphylotoxin_inactivator_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene CPLANE1 human_phenotype_ontology_hp_0006034_human_phenotype_ontology_hp_0006046_human_phenotype_ontology_hp_0006123_human_phenotype_ontology_hp_0009605_human_phenotype_ontology_hp_0010442_mondo_mondo_0021003_medgen_c0152427_omim_603596 Polydactyly Human_Phenotype_Ontology:HP:0006034,Human_Phenotype_Ontology:HP:0006046,Human_Phenotype_Ontology:HP:0006123,Human_Phenotype_Ontology:HP:0009605,Human_Phenotype_Ontology:HP:0010442,MONDO:MONDO:0021003,MedGen:C0152427,OMIM:603596 2 2 1.0000 condition_record_support_limited 20 0 2 Polydactyly 343 large_gene_or_donor_burden_stress_case donor_burden_stress CPLANE1 human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Nephronophthisis Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 2 2 1.0000 condition_record_support_limited 20 0 2 Nephronophthisis 343 large_gene_or_donor_burden_stress_case donor_burden_stress CPLANE1 human_phenotype_ontology_hp_0008501_human_phenotype_ontology_hp_0009089_medgen_c2750604 Median cleft lip and palate Human_Phenotype_Ontology:HP:0008501,Human_Phenotype_Ontology:HP:0009089,MedGen:C2750604 2 2 1.0000 condition_record_support_limited 20 0 2 Median_cleft_lip_and_palate 343 large_gene_or_donor_burden_stress_case donor_burden_stress CPLANE1 human_phenotype_ontology_hp_0002084_human_phenotype_ontology_hp_0002736_human_phenotype_ontology_hp_0100664_medgen_c4551722 Encephalocele Human_Phenotype_Ontology:HP:0002084,Human_Phenotype_Ontology:HP:0002736,Human_Phenotype_Ontology:HP:0100664,MedGen:C4551722 2 2 1.0000 condition_record_support_limited 20 0 2 Encephalocele 343 large_gene_or_donor_burden_stress_case donor_burden_stress CPLANE1 human_phenotype_ontology_hp_0002195_medgen_c4025719 Dysgenesis of the cerebellar vermis Human_Phenotype_Ontology:HP:0002195,MedGen:C4025719 2 2 1.0000 condition_record_support_limited 20 0 2 Dysgenesis_of_the_cerebellar_vermis 343 large_gene_or_donor_burden_stress_case donor_burden_stress CPE condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene CPAP human_phenotype_ontology_hp_0011451_medgen_c2677180 Primary microcephaly Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 2 2 1.0000 condition_record_support_limited 20 0 2 Primary_microcephaly 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPAP human_phenotype_ontology_hp_0012650_medgen_c3279675 Perisylvian polymicrogyria Human_Phenotype_Ontology:HP:0012650,MedGen:C3279675 2 2 1.0000 condition_record_support_limited 20 0 2 Perisylvian_polymicrogyria 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPAP human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Moderate intellectual disability Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 2 2 1.0000 condition_record_support_limited 20 0 2 Moderate_intellectual_disability 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPAP mondo_mondo_0009617_medgen_c1855081_omim_251200_orphanet_2512 Microcephaly 1, primary, autosomal recessive MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512 2 2 1.0000 condition_record_support_limited 20 0 1 Microcephaly_1,_primary,_autosomal_recessive 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPAP mondo_mondo_0015148_medgen_c1969029_orphanet_102011 Lissencephaly type 3 MONDO:MONDO:0015148,MedGen:C1969029,Orphanet:102011 2 2 1.0000 condition_record_support_limited 20 0 2 Lissencephaly_type_3 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPAMD8 cpamd8_related_disorder CPAMD8-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 CPAMD8-related_disorder 27 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CPAMD8 human_phenotype_ontology_hp_0007696_human_phenotype_ontology_hp_0007699_human_phenotype_ontology_hp_0007700_human_phenotype_ontology_hp_0008040_mondo_mondo_0019503_medgen_c1862839_omim_ps107250_orphanet_88632 Anterior segment dysgenesis Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632 2 2 1.0000 condition_record_support_limited 20 0 1 Anterior_segment_dysgenesis 27 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COX6B1 mondo_mondo_0700250_medgen_c5435656_omim_220110 Mitochondrial complex IV deficiency, nuclear type 1 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 2 2 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_IV_deficiency,_nuclear_type_1 2 low_record_burden_interpretation_limited low_record_burden_gene COX5A mondo_mondo_0033655_medgen_c5436726_omim_619064 Mitochondrial complex IV deficiency, nuclear type 20 MONDO:MONDO:0033655,MedGen:C5436726,OMIM:619064 2 2 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_IV_deficiency,_nuclear_type_20 2 low_record_burden_interpretation_limited low_record_burden_gene COX15 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COX10 mondo_mondo_0700250_medgen_c5435656_omim_220110 Mitochondrial complex IV deficiency, nuclear type 1 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 2 2 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_IV_deficiency,_nuclear_type_1 15 low_record_burden_interpretation_limited low_record_burden_gene CORIN mondo_mondo_0013817_medgen_c3281288_omim_614595 Preeclampsia/eclampsia 5 MONDO:MONDO:0013817,MedGen:C3281288,OMIM:614595 2 2 1.0000 condition_record_support_limited 20 0 0 Preeclampsia/eclampsia_5 4 low_record_burden_interpretation_limited low_record_burden_gene CORIN mondo_mondo_0958241_medgen_c5935586_omim_620734 Cardiomyopathy, familial hypertrophic, 30, atrial MONDO:MONDO:0958241,MedGen:C5935586,OMIM:620734 2 2 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy,_familial_hypertrophic,_30,_atrial 4 low_record_burden_interpretation_limited low_record_burden_gene COQ8B human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ8B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ8A possible_mitochondrial_disorder_nuclear_genes Possible mitochondrial disorder - nuclear genes . 2 2 1.0000 condition_record_support_limited 20 0 2 Possible_mitochondrial_disorder_-_nuclear_genes 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ8A mondo_mondo_0011829_medgen_c3551954_omim_607426_orphanet_255249 Coenzyme Q10 deficiency, primary, 1 MONDO:MONDO:0011829,MedGen:C3551954,OMIM:607426,Orphanet:255249 2 2 1.0000 condition_record_support_limited 20 0 0 Coenzyme_Q10_deficiency,_primary,_1 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ8A mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 2 2 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ8A coq8a_related_disorder COQ8A-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 COQ8A-related_disorder 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ5 mondo_mondo_0033615_medgen_c5436638_omim_619028 Coenzyme q10 deficiency, primary, 9 MONDO:MONDO:0033615,MedGen:C5436638,OMIM:619028 2 2 1.0000 condition_record_support_limited 20 0 0 Coenzyme_q10_deficiency,_primary,_9 2 low_record_burden_interpretation_limited low_record_burden_gene COQ4 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 2 2 1.0000 condition_record_support_limited 20 0 2 Spastic_ataxia 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COPB2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene COPB2 mondo_mondo_0054716_medgen_c4540488_omim_617800 Microcephaly 19, primary, autosomal recessive MONDO:MONDO:0054716,MedGen:C4540488,OMIM:617800 2 2 1.0000 condition_record_support_limited 20 0 1 Microcephaly_19,_primary,_autosomal_recessive 9 low_record_burden_interpretation_limited low_record_burden_gene COPB1 human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 2 2 1.0000 condition_record_support_limited 20 0 2 Severe_intellectual_disability 3 low_record_burden_interpretation_limited low_record_burden_gene COPB1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 2 Microcephaly 3 low_record_burden_interpretation_limited low_record_burden_gene COPB1 human_phenotype_ontology_hp_0000518_mondo_mondo_0005129_mesh_d002386_medgen_c0086543_omim_ps116200 Cataract Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200 2 2 1.0000 condition_record_support_limited 20 0 2 Cataract 3 low_record_burden_interpretation_limited low_record_burden_gene COPB1 mondo_mondo_0031002_medgen_c5543241_omim_619255 Baralle-Macken syndrome MONDO:MONDO:0031002,MedGen:C5543241,OMIM:619255 2 2 1.0000 condition_record_support_limited 20 0 2 Baralle-Macken_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene COPA condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene COMP medgen_c4016660 Epiphyseal dysplasia, multiple, 1, severe MedGen:C4016660 2 2 1.0000 condition_record_support_limited 20 0 0 Epiphyseal_dysplasia,_multiple,_1,_severe 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COLEC11 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene COLEC10 condition_not_provided condition not provided .|MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 See_cases|not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene COL9A3 mondo_mondo_0019354_medgen_c0265253_omim_ps108300_orphanet_828 Stickler syndrome MONDO:MONDO:0019354,MedGen:C0265253,OMIM:PS108300,Orphanet:828 2 2 1.0000 condition_record_support_limited 20 0 2 Stickler_syndrome 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A3 mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 2 2 1.0000 condition_record_support_limited 20 0 1 Connective_tissue_disorder 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A3 col9a3_related_disorder COL9A3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 COL9A3-related_disorder 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A1 mondo_mondo_0013591_medgen_c2675767_omim_614135 Epiphyseal dysplasia, multiple, 6 MONDO:MONDO:0013591,MedGen:C2675767,OMIM:614135 2 2 1.0000 condition_record_support_limited 20 0 2 Epiphyseal_dysplasia,_multiple,_6 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A1 mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 2 2 1.0000 condition_record_support_limited 20 0 2 Connective_tissue_disorder 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL8A2 mondo_mondo_0012199_medgen_c1852795_omim_609140_orphanet_98973 Posterior polymorphous corneal dystrophy 2 MONDO:MONDO:0012199,MedGen:C1852795,OMIM:609140,Orphanet:98973 2 2 1.0000 condition_record_support_limited 20 0 2 Posterior_polymorphous_corneal_dystrophy_2 3 low_record_burden_interpretation_limited low_record_burden_gene COL7A1 human_phenotype_ontology_hp_0001770_human_phenotype_ontology_hp_0001828_human_phenotype_ontology_hp_0005677_medgen_c0265660 Toe syndactyly Human_Phenotype_Ontology:HP:0001770,Human_Phenotype_Ontology:HP:0001828,Human_Phenotype_Ontology:HP:0005677,MedGen:C0265660 2 2 1.0000 condition_record_support_limited 20 0 2 Toe_syndactyly 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 human_phenotype_ontology_hp_0200041_medgen_c3887524 Skin erosion Human_Phenotype_Ontology:HP:0200041,MedGen:C3887524 2 2 1.0000 condition_record_support_limited 20 0 2 Skin_erosion 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 human_phenotype_ontology_hp_0004552_medgen_c3806301 Scarring alopecia of scalp Human_Phenotype_Ontology:HP:0004552,MedGen:C3806301 2 2 1.0000 condition_record_support_limited 20 0 2 Scarring_alopecia_of_scalp 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 human_phenotype_ontology_hp_0100699_medgen_c0008767 Scarring Human_Phenotype_Ontology:HP:0100699,MedGen:C0008767 2 2 1.0000 condition_record_support_limited 20 0 2 Scarring 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 human_phenotype_ontology_hp_0007446_medgen_c4024876 Palmoplantar blistering Human_Phenotype_Ontology:HP:0007446,MedGen:C4024876 2 2 1.0000 condition_record_support_limited 20 0 2 Palmoplantar_blistering 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 mondo_mondo_0008798_medgen_c3277900_omim_206800_orphanet_79143_orphanet_94150 Nonsyndromic congenital nail disorder 4 MONDO:MONDO:0008798,MedGen:C3277900,OMIM:206800,Orphanet:79143,Orphanet:94150 2 2 1.0000 condition_record_support_limited 20 0 2 Nonsyndromic_congenital_nail_disorder_4 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 2 Microcephaly 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 human_phenotype_ontology_hp_0000953_human_phenotype_ontology_hp_0007527_mondo_mondo_0019289_medgen_c0162834_orphanet_79375 Hyperpigmentation of the skin Human_Phenotype_Ontology:HP:0000953,Human_Phenotype_Ontology:HP:0007527,MONDO:MONDO:0019289,MedGen:C0162834,Orphanet:79375 2 2 1.0000 condition_record_support_limited 20 0 2 Hyperpigmentation_of_the_skin 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 human_phenotype_ontology_hp_0006057_human_phenotype_ontology_hp_0006101_medgen_c0221352 Finger syndactyly Human_Phenotype_Ontology:HP:0006057,Human_Phenotype_Ontology:HP:0006101,MedGen:C0221352 2 2 1.0000 condition_record_support_limited 20 0 2 Finger_syndactyly 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 2 2 1.0000 condition_record_support_limited 20 0 2 Failure_to_thrive 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 medgen_c4015945 Epidermolysis bullosa, pretibial, autosomal recessive MedGen:C4015945 2 2 1.0000 condition_record_support_limited 20 0 1 Epidermolysis_bullosa,_pretibial,_autosomal_recessive 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 human_phenotype_ontology_hp_0002177_human_phenotype_ontology_hp_0003457_human_phenotype_ontology_hp_0003751_human_phenotype_ontology_hp_0003753_human_phenotype_ontology_hp_0100286_medgen_c0476403 EMG abnormality Human_Phenotype_Ontology:HP:0002177,Human_Phenotype_Ontology:HP:0003457,Human_Phenotype_Ontology:HP:0003751,Human_Phenotype_Ontology:HP:0003753,Human_Phenotype_Ontology:HP:0100286,MedGen:C0476403 2 2 1.0000 condition_record_support_limited 20 0 2 EMG_abnormality 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 human_phenotype_ontology_hp_0002460_human_phenotype_ontology_hp_0002598_human_phenotype_ontology_hp_0002935_human_phenotype_ontology_hp_0003497_human_phenotype_ontology_hp_0006940_human_phenotype_ontology_hp_0009008_medgen_c0427065 Distal muscle weakness Human_Phenotype_Ontology:HP:0002460,Human_Phenotype_Ontology:HP:0002598,Human_Phenotype_Ontology:HP:0002935,Human_Phenotype_Ontology:HP:0003497,Human_Phenotype_Ontology:HP:0006940,Human_Phenotype_Ontology:HP:0009008,MedGen:C0427065 2 2 1.0000 condition_record_support_limited 20 0 2 Distal_muscle_weakness 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 human_phenotype_ontology_hp_0001823_human_phenotype_ontology_hp_0001826_human_phenotype_ontology_hp_0004325_medgen_c5574742 Decreased body weight Human_Phenotype_Ontology:HP:0001823,Human_Phenotype_Ontology:HP:0001826,Human_Phenotype_Ontology:HP:0004325,MedGen:C5574742 2 2 1.0000 condition_record_support_limited 20 0 2 Decreased_body_weight 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 human_phenotype_ontology_hp_0002293_human_phenotype_ontology_hp_0200115_medgen_c0574769 Alopecia of scalp Human_Phenotype_Ontology:HP:0002293,Human_Phenotype_Ontology:HP:0200115,MedGen:C0574769 2 2 1.0000 condition_record_support_limited 20 0 2 Alopecia_of_scalp 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 human_phenotype_ontology_hp_0000164_human_phenotype_ontology_hp_0001567_human_phenotype_ontology_hp_0006296_human_phenotype_ontology_hp_0006348_medgen_c0262444 Abnormality of the dentition Human_Phenotype_Ontology:HP:0000164,Human_Phenotype_Ontology:HP:0001567,Human_Phenotype_Ontology:HP:0006296,Human_Phenotype_Ontology:HP:0006348,MedGen:C0262444 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_dentition 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL7A1 human_phenotype_ontology_hp_0000682_human_phenotype_ontology_hp_0006322_medgen_c4021800 Abnormal dental enamel morphology Human_Phenotype_Ontology:HP:0000682,Human_Phenotype_Ontology:HP:0006322,MedGen:C4021800 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_dental_enamel_morphology 1079 large_gene_or_donor_burden_stress_case donor_burden_stress COL6A3 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 2 2 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_musculature 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL6A2 mondo_mondo_0008029_medgen_c1834674_omim_ps158810_orphanet_610 Bethlem myopathy MONDO:MONDO:0008029,MedGen:C1834674,OMIM:PS158810,Orphanet:610 2 2 1.0000 condition_record_support_limited 20 0 2 Bethlem_myopathy 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL5A2 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 2 2 1.0000 condition_record_support_limited 20 0 0 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 62 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A2 col5a2_related_disorder COL5A2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 COL5A2-related_disorder 62 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0000977_medgen_c1844592 Soft skin Human_Phenotype_Ontology:HP:0000977,MedGen:C1844592 2 2 1.0000 condition_record_support_limited 20 0 2 Soft_skin 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0001378_human_phenotype_ontology_hp_0001382_human_phenotype_ontology_hp_0005034_medgen_c1844820 Joint hypermobility Human_Phenotype_Ontology:HP:0001378,Human_Phenotype_Ontology:HP:0001382,Human_Phenotype_Ontology:HP:0005034,MedGen:C1844820 2 2 1.0000 condition_record_support_limited 20 0 2 Joint_hypermobility 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0000974_human_phenotype_ontology_hp_0007389_human_phenotype_ontology_hp_0007493_human_phenotype_ontology_hp_0007578_medgen_c0241074 Hyperextensible skin Human_Phenotype_Ontology:HP:0000974,Human_Phenotype_Ontology:HP:0007389,Human_Phenotype_Ontology:HP:0007493,Human_Phenotype_Ontology:HP:0007578,MedGen:C0241074 2 2 1.0000 condition_record_support_limited 20 0 2 Hyperextensible_skin 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 mondo_mondo_0019568_medgen_c0268336_omim_130010_orphanet_287_orphanet_90318 Ehlers-Danlos syndrome, classic type, 2 MONDO:MONDO:0019568,MedGen:C0268336,OMIM:130010,Orphanet:287,Orphanet:90318 2 2 1.0000 condition_record_support_limited 20 0 0 Ehlers-Danlos_syndrome,_classic_type,_2 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0000959_human_phenotype_ontology_hp_0000978_human_phenotype_ontology_hp_0007433_human_phenotype_ontology_hp_0007472_medgen_c0423798 Bruising susceptibility Human_Phenotype_Ontology:HP:0000959,Human_Phenotype_Ontology:HP:0000978,Human_Phenotype_Ontology:HP:0007433,Human_Phenotype_Ontology:HP:0007472,MedGen:C0423798 2 2 1.0000 condition_record_support_limited 20 0 2 Bruising_susceptibility 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0001075_human_phenotype_ontology_hp_0007567_medgen_c0162154 Atrophic scars Human_Phenotype_Ontology:HP:0001075,Human_Phenotype_Ontology:HP:0007567,MedGen:C0162154 2 2 1.0000 condition_record_support_limited 20 0 2 Atrophic_scars 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A5 human_phenotype_ontology_hp_0000093_mondo_mondo_0003634_medgen_c0033687 Proteinuria Human_Phenotype_Ontology:HP:0000093,MONDO:MONDO:0003634,MedGen:C0033687 2 2 1.0000 condition_record_support_limited 20 0 2 Proteinuria 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A5 human_phenotype_ontology_hp_0002907_medgen_c0239937 Microscopic hematuria Human_Phenotype_Ontology:HP:0002907,MedGen:C0239937 2 2 1.0000 condition_record_support_limited 20 0 2 Microscopic_hematuria 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A5 human_phenotype_ontology_hp_0000112_mondo_mondo_0005240_medgen_c0022658 Kidney disorder Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658 2 2 1.0000 condition_record_support_limited 20 0 1 Kidney_disorder 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A4 human_phenotype_ontology_hp_0000112_mondo_mondo_0005240_medgen_c0022658 Kidney disorder Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658 2 2 1.0000 condition_record_support_limited 20 0 1 Kidney_disorder 860 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL4A4 human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 2 2 1.0000 condition_record_support_limited 20 0 1 Focal_segmental_glomerulosclerosis 860 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL4A3 human_phenotype_ontology_hp_0002907_medgen_c0239937 Microscopic hematuria Human_Phenotype_Ontology:HP:0002907,MedGen:C0239937 2 2 1.0000 condition_record_support_limited 20 0 2 Microscopic_hematuria 855 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A3 human_phenotype_ontology_hp_0000112_mondo_mondo_0005240_medgen_c0022658 Kidney disorder Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658 2 2 1.0000 condition_record_support_limited 20 0 2 Kidney_disorder 855 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A2 col4a2_related_disorder COL4A2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 COL4A2-related_disorder 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A1 human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 2 2 1.0000 condition_record_support_limited 20 0 0 Cerebral_palsy 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 medgen_c5680103_orphanet_477759 COL4A1 or COL4A2-related cerebral small vessel disease MedGen:C5680103,Orphanet:477759 2 2 1.0000 condition_record_support_limited 20 0 1 COL4A1_or_COL4A2-related_cerebral_small_vessel_disease 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL3A1 thoracic_aortic_aneurysm_or_dissection Thoracic aortic aneurysm or dissection . 2 2 1.0000 condition_record_support_limited 20 0 2 Thoracic_aortic_aneurysm_or_dissection 937 large_gene_or_donor_burden_stress_case donor_burden_stress COL3A1 mondo_mondo_0008438_medgen_c1866855_omim_182601_orphanet_100985 Hereditary spastic paraplegia 4 MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601,Orphanet:100985 2 2 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia_4 937 large_gene_or_donor_burden_stress_case donor_burden_stress COL3A1 human_phenotype_ontology_hp_0002647_medgen_c0340643 Aortic dissection Human_Phenotype_Ontology:HP:0002647,MedGen:C0340643 2 2 1.0000 condition_record_support_limited 20 0 1 Aortic_dissection 937 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 1.0000 condition_record_support_limited 20 0 1 Short_stature 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 mondo_mondo_0008490_medgen_c1848488_omim_184840_orphanet_166100_orphanet_3450 Otospondylomegaepiphyseal dysplasia, autosomal dominant MONDO:MONDO:0008490,MedGen:C1848488,OMIM:184840,Orphanet:166100,Orphanet:3450 2 2 1.0000 condition_record_support_limited 20 0 0 Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 mondo_mondo_0016202_medgen_c1836081_orphanet_209867 Autosomal dominant rhegmatogenous retinal detachment MONDO:MONDO:0016202,MedGen:C1836081,Orphanet:209867 2 2 1.0000 condition_record_support_limited 20 0 2 Autosomal_dominant_rhegmatogenous_retinal_detachment 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL27A1 col27a1_related_disorder COL27A1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 COL27A1-related_disorder 158 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A2 mondo_mondo_0007525_medgen_c4551623_omim_130060_orphanet_1899_orphanet_99875_orphanet_99876 Ehlers-Danlos syndrome, arthrochalasia type MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060,Orphanet:1899,Orphanet:99875,Orphanet:99876 2 2 1.0000 condition_record_support_limited 20 0 2 Ehlers-Danlos_syndrome,_arthrochalasia_type 722 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A2 human_phenotype_ontology_hp_0000924_medgen_c4021790 Abnormality of the skeletal system Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_skeletal_system 722 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 mondo_mondo_0011493_medgen_c1858084_omim_604841_orphanet_828_orphanet_90654 Stickler syndrome type 2 MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841,Orphanet:828,Orphanet:90654 2 2 1.0000 condition_record_support_limited 20 0 1 Stickler_syndrome_type_2 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0000938_human_phenotype_ontology_hp_0002768_human_phenotype_ontology_hp_0002799_human_phenotype_ontology_hp_0002800_medgen_c0029453 Osteopenia Human_Phenotype_Ontology:HP:0000938,Human_Phenotype_Ontology:HP:0002768,Human_Phenotype_Ontology:HP:0002799,Human_Phenotype_Ontology:HP:0002800,MedGen:C0029453 2 2 1.0000 condition_record_support_limited 20 0 2 Osteopenia 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 medgen_c4015950 Osteogenesis imperfecta type 1, mild MedGen:C4015950 2 2 1.0000 condition_record_support_limited 20 0 2 Osteogenesis_imperfecta_type_1,_mild 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0001378_human_phenotype_ontology_hp_0001382_human_phenotype_ontology_hp_0005034_medgen_c1844820 Joint hypermobility Human_Phenotype_Ontology:HP:0001378,Human_Phenotype_Ontology:HP:0001382,Human_Phenotype_Ontology:HP:0005034,MedGen:C1844820 2 2 1.0000 condition_record_support_limited 20 0 2 Joint_hypermobility 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 mondo_mondo_0040501_medgen_cn293783_omim_617821 Ehlers-Danlos syndrome, arthrochalasia type, 2 MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821 2 2 1.0000 condition_record_support_limited 20 0 2 Ehlers-Danlos_syndrome,_arthrochalasia_type,_2 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0000592_medgen_c0542514 Blue sclerae Human_Phenotype_Ontology:HP:0000592,MedGen:C0542514 2 2 1.0000 condition_record_support_limited 20 0 2 Blue_sclerae 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL18A1 human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 2 2 1.0000 condition_record_support_limited 20 0 2 Nystagmus 214 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL18A1 human_phenotype_ontology_hp_0000569_human_phenotype_ontology_hp_0011003_medgen_c0271183 High myopia Human_Phenotype_Ontology:HP:0000569,Human_Phenotype_Ontology:HP:0011003,MedGen:C0271183 2 2 1.0000 condition_record_support_limited 20 0 2 High_myopia 214 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL18A1 human_phenotype_ontology_hp_0000518_mondo_mondo_0005129_mesh_d002386_medgen_c0086543_omim_ps116200 Cataract Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200 2 2 1.0000 condition_record_support_limited 20 0 2 Cataract 214 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL12A1 col12a1_related_disorder COL12A1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 COL12A1-related_disorder 132 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A2 monogenic_hearing_loss Monogenic hearing loss . 2 2 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 197 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 197 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A1 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 1.0000 condition_record_support_limited 20 0 2 Hearing_impairment 248 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A1 autosomal_dominant_col11a1_related_disorders Autosomal dominant COL11A1-related disorders . 2 2 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_COL11A1-related_disorders 248 large_gene_or_donor_burden_stress_case donor_burden_stress COL10A1 col10a1_related_disorder COL10A1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 COL10A1-related_disorder 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COG6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COG4 cog4_related_disorders COG4-Related Disorders . 2 2 1.0000 condition_record_support_limited 20 0 1 COG4-Related_Disorders 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COG2 condition_not_provided condition not provided .|MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 See_cases|not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene COCH human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 1.0000 condition_record_support_limited 20 0 2 Hearing_impairment 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COASY coasy_related_disorders COASY-Related Disorders . 2 2 1.0000 condition_record_support_limited 20 0 2 COASY-Related_Disorders 30 compact_adjacent_exon_block_opportunity local_compact_architecture COA6 condition_not_provided condition not provided . 2 2 1.0000 condition_record_support_limited 20 2 0 See_cases 5 low_record_burden_interpretation_limited low_record_burden_gene CNTNAP1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 2 2 1.0000 condition_record_support_limited 20 0 2 Fetal_akinesia_deformation_sequence_1 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNTNAP1 human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 2 2 1.0000 condition_record_support_limited 20 0 2 Arthrogryposis_multiplex_congenita 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNOT9 condition_not_provided condition not provided .|MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 See_cases|not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene CNOT3 moyamoya_angiopathy_with_developmental_delay Moyamoya angiopathy with developmental delay . 2 2 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy_with_developmental_delay 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNOT2 mondo_mondo_0032832_medgen_c5231426_omim_618608_orphanet_697760 Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies MONDO:MONDO:0032832,MedGen:C5231426,OMIM:618608,Orphanet:697760 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder_with_nasal_speech,_dysmorphic_facies,_and_variable_skeletal_anomalies 6 low_record_burden_interpretation_limited low_record_burden_gene CNNM2 mondo_mondo_0013165_medgen_c3888209_omim_613162_orphanet_320396 Hereditary spastic paraplegia 45 MONDO:MONDO:0013165,MedGen:C3888209,OMIM:613162,Orphanet:320396 2 2 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia_45 39 compact_adjacent_exon_block_opportunity local_compact_architecture CNN2 human_phenotype_ontology_hp_0004935_medgen_c0265908 Pulmonary artery atresia Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908 2 2 1.0000 condition_record_support_limited 20 0 0 Pulmonary_artery_atresia 2 low_record_burden_interpretation_limited low_record_burden_gene CNKSR2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGB3 mondo_mondo_0009549_mesh_d000080362_medgen_c1855465_omim_248200_orphanet_364055_orphanet_827 Severe early-childhood-onset retinal dystrophy MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827 2 2 1.0000 condition_record_support_limited 20 0 2 Severe_early-childhood-onset_retinal_dystrophy 271 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGB3 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa 271 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGB3 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 271 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGB3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 271 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGB1 cngb1_related_disorder CNGB1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CNGB1-related_disorder 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGB1 medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 2 2 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_retinitis_pigmentosa 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA3 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA3 human_phenotype_ontology_hp_0007803_human_phenotype_ontology_hp_0007954_medgen_c5201048 Monochromacy Human_Phenotype_Ontology:HP:0007803,Human_Phenotype_Ontology:HP:0007954,MedGen:C5201048 2 2 1.0000 condition_record_support_limited 20 0 2 Monochromacy 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA3 mondo_mondo_0000455_medgen_c0730290_orphanet_1871 Cone dystrophy MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 2 2 1.0000 condition_record_support_limited 20 0 1 Cone_dystrophy 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA3 mondo_mondo_0009875_medgen_c1849792_omim_262300_orphanet_49382 Achromatopsia 3 MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300,Orphanet:49382 2 2 1.0000 condition_record_support_limited 20 0 2 Achromatopsia_3 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLRN1 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 1.0000 condition_record_support_limited 20 0 2 Hearing_impairment 97 compact_adjacent_exon_block_opportunity local_compact_architecture CLRN1 clrn1_related_disorder CLRN1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CLRN1-related_disorder 97 compact_adjacent_exon_block_opportunity local_compact_architecture CLPB human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Premature ovarian insufficiency Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 2 2 1.0000 condition_record_support_limited 20 0 2 Premature_ovarian_insufficiency 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLPB human_phenotype_ontology_hp_0001875_human_phenotype_ontology_hp_0005515_human_phenotype_ontology_hp_0005533_mondo_mondo_0001475_medgen_c0853697 Decreased total neutrophil count Human_Phenotype_Ontology:HP:0001875,Human_Phenotype_Ontology:HP:0005515,Human_Phenotype_Ontology:HP:0005533,MONDO:MONDO:0001475,MedGen:C0853697 2 2 1.0000 condition_record_support_limited 20 0 2 Decreased_total_neutrophil_count 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLPB mondo_mondo_0859237_medgen_c5676967_omim_619835 3-methylglutaconic aciduria, type VIIA MONDO:MONDO:0859237,MedGen:C5676967,OMIM:619835 2 2 1.0000 condition_record_support_limited 20 0 2 3-methylglutaconic_aciduria,_type_VIIA 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN6 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN3 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 2 2 1.0000 condition_record_support_limited 20 0 2 Cone-rod_dystrophy 220 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLMP condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene CLMP human_phenotype_ontology_hp_0004389_mondo_mondo_0002803_medgen_c0021847 Intestinal pseudo-obstruction Human_Phenotype_Ontology:HP:0004389,MONDO:MONDO:0002803,MedGen:C0021847 2 2 1.0000 condition_record_support_limited 20 0 2 Intestinal_pseudo-obstruction 9 low_record_burden_interpretation_limited low_record_burden_gene CLIC5 mondo_mondo_0014469_medgen_c4015050_omim_616042_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 103 MONDO:MONDO:0014469,MedGen:C4015050,OMIM:616042,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_nonsyndromic_hearing_loss_103 3 low_record_burden_interpretation_limited low_record_burden_gene CLDN5 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene CLDN14 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 2 Hearing_loss,_autosomal_recessive 19 low_record_burden_interpretation_limited low_record_burden_gene CLDN14 cldn14_related_disorder CLDN14-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CLDN14-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene CLDN11 mondo_mondo_0025701_medgen_c5543406_omim_619328 Leukodystrophy, hypomyelinating, 22 MONDO:MONDO:0025701,MedGen:C5543406,OMIM:619328 2 2 1.0000 condition_record_support_limited 20 0 0 Leukodystrophy,_hypomyelinating,_22 2 low_record_burden_interpretation_limited low_record_burden_gene CLDN1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene CLCNKB medgen_c1846344 Bartter syndrome, type 3, with hypocalciuria MedGen:C1846344 2 2 1.0000 condition_record_support_limited 20 0 1 Bartter_syndrome,_type_3,_with_hypocalciuria 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN7 mondo_mondo_0005381_medgen_c0005940_orphanet_364803 Disorder of bone MONDO:MONDO:0005381,MedGen:C0005940,Orphanet:364803 2 2 1.0000 condition_record_support_limited 20 0 2 Disorder_of_bone 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN5 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 2 2 1.0000 condition_record_support_limited 20 0 1 Nephrotic_syndrome 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN5 mondo_mondo_0015612_medgen_c0878681_omim_ps300009_orphanet_1652 Dent disease MONDO:MONDO:0015612,MedGen:C0878681,OMIM:PS300009,Orphanet:1652 2 2 1.0000 condition_record_support_limited 20 0 1 Dent_disease 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene CLCN1 mondo_mondo_0010035_medgen_c0175694_omim_270400_orphanet_818 Smith-Lemli-Opitz syndrome MONDO:MONDO:0010035,MedGen:C0175694,OMIM:270400,Orphanet:818 2 2 1.0000 condition_record_support_limited 20 0 2 Smith-Lemli-Opitz_syndrome 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 medgen_c0270959 Myotonia levior MedGen:C0270959 2 2 1.0000 condition_record_support_limited 20 0 2 Myotonia_levior 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_musculature 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLASP1 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_disorder 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLASP1 rnu4atac_related_disorder RNU4ATAC-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 RNU4ATAC-related_disorder 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLASP1 mondo_mondo_0009360_medgen_c3887608_omim_236600_orphanet_2185 Hydrocephalus, nonsyndromic, autosomal recessive 1 MONDO:MONDO:0009360,MedGen:C3887608,OMIM:236600,Orphanet:2185 2 2 1.0000 condition_record_support_limited 20 0 2 Hydrocephalus,_nonsyndromic,_autosomal_recessive_1 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLASP1 clasp1_related_disorder CLASP1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CLASP1-related_disorder 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CKS1B human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Breast neoplasm Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 2 2 1.0000 condition_record_support_limited 20 0 0 Breast_neoplasm 2 low_record_burden_interpretation_limited low_record_burden_gene CIZ1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 6 low_record_burden_interpretation_limited low_record_burden_gene CIT mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 25 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CIROP mondo_mondo_0011125_medgen_c1866504_omim_601675_orphanet_33364 Trichothiodystrophy 1, photosensitive MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675,Orphanet:33364 2 2 1.0000 condition_record_support_limited 20 0 0 Trichothiodystrophy_1,_photosensitive 8 low_record_burden_interpretation_limited low_record_burden_gene CIB2 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 2 Hearing_loss,_autosomal_recessive 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CIB1 susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 2 2 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 15 low_record_burden_interpretation_limited low_record_burden_gene CHRNG human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 2 2 1.0000 condition_record_support_limited 20 0 2 Scoliosis 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNG chrng_related_disorder CHRNG-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CHRNG-related_disorder 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNG human_phenotype_ontology_hp_0005612_medgen_c4025173 Arthrogryposis-like hand anomaly Human_Phenotype_Ontology:HP:0005612,MedGen:C4025173 2 2 1.0000 condition_record_support_limited 20 0 2 Arthrogryposis-like_hand_anomaly 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNG human_phenotype_ontology_hp_0004985_human_phenotype_ontology_hp_0006403_human_phenotype_ontology_hp_0006466_medgen_c1837407 Ankle flexion contracture Human_Phenotype_Ontology:HP:0004985,Human_Phenotype_Ontology:HP:0006403,Human_Phenotype_Ontology:HP:0006466,MedGen:C1837407 2 2 1.0000 condition_record_support_limited 20 0 2 Ankle_flexion_contracture 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNE human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 2 2 1.0000 condition_record_support_limited 20 0 1 Tip-toe_gait 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRND human_phenotype_ontology_hp_0000508_mondo_mondo_0000728_medgen_c0005745 Ptosis Human_Phenotype_Ontology:HP:0000508,MONDO:MONDO:0000728,MedGen:C0005745 2 2 1.0000 condition_record_support_limited 20 0 2 Ptosis 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRND human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Muscle weakness Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 2 2 1.0000 condition_record_support_limited 20 0 2 Muscle_weakness 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRND human_phenotype_ontology_hp_0002094_medgen_c0013404 Dyspnea Human_Phenotype_Ontology:HP:0002094,MedGen:C0013404 2 2 1.0000 condition_record_support_limited 20 0 2 Dyspnea 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRND chrnd_related_disorder CHRND-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CHRND-related_disorder 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRND human_phenotype_ontology_hp_0005957_medgen_c3808046 Breathing dysregulation Human_Phenotype_Ontology:HP:0005957,MedGen:C3808046 2 2 1.0000 condition_record_support_limited 20 0 2 Breathing_dysregulation 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNB4 human_phenotype_ontology_hp_0002145_mondo_mondo_0017276_medgen_c0338451_omim_600274_orphanet_282 Frontotemporal dementia Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282 2 2 1.0000 condition_record_support_limited 20 0 0 Frontotemporal_dementia 3 low_record_burden_interpretation_limited low_record_burden_gene CHN1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene CHMP1A condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene CHEK2 tumor_predisposition_syndrome_4_breast_prostate TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE . 2 2 1.0000 condition_record_support_limited 20 0 2 TUMOR_PREDISPOSITION_SYNDROME_4,_BREAST/PROSTATE 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 gene_553989_medgen_c1835398_omim_151623_orphanet_524 Li-Fraumeni syndrome 1 Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524 2 2 1.0000 condition_record_support_limited 20 0 2 Li-Fraumeni_syndrome_1 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Endometrial carcinoma Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 2 2 1.0000 condition_record_support_limited 20 0 2 Endometrial_carcinoma 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHD2 mondo_mondo_0007295_medgen_c0376532_orphanet_1945 Self-limited epilepsy with centrotemporal spikes MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 2 2 1.0000 condition_record_support_limited 20 0 0 Self-limited_epilepsy_with_centrotemporal_spikes 368 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD2 human_phenotype_ontology_hp_0011170_mondo_mondo_0014633_medgen_c0393702_omim_616421_orphanet_1942 Epilepsy with myoclonic atonic seizures Human_Phenotype_Ontology:HP:0011170,MONDO:MONDO:0014633,MedGen:C0393702,OMIM:616421,Orphanet:1942 2 2 1.0000 condition_record_support_limited 20 0 0 Epilepsy_with_myoclonic_atonic_seizures 368 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD2 mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 2 2 1.0000 condition_record_support_limited 20 0 1 Epilepsy 368 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHCHD2 mondo_mondo_0014742_medgen_c4225238_omim_616710 Parkinson disease 22, autosomal dominant MONDO:MONDO:0014742,MedGen:C4225238,OMIM:616710 2 2 1.0000 condition_record_support_limited 20 0 1 Parkinson_disease_22,_autosomal_dominant 2 low_record_burden_interpretation_limited low_record_burden_gene CHAT human_phenotype_ontology_hp_0002093_human_phenotype_ontology_hp_0004893_human_phenotype_ontology_hp_0005937_human_phenotype_ontology_hp_0006542_medgen_c0035229 Respiratory insufficiency Human_Phenotype_Ontology:HP:0002093,Human_Phenotype_Ontology:HP:0004893,Human_Phenotype_Ontology:HP:0005937,Human_Phenotype_Ontology:HP:0006542,MedGen:C0035229 2 2 1.0000 condition_record_support_limited 20 0 2 Respiratory_insufficiency 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHAT human_phenotype_ontology_hp_0007838_medgen_c1834015 Progressive ptosis Human_Phenotype_Ontology:HP:0007838,MedGen:C1834015 2 2 1.0000 condition_record_support_limited 20 0 2 Progressive_ptosis 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHAT human_phenotype_ontology_hp_0003323_human_phenotype_ontology_hp_0009032_medgen_c0240421 Progressive muscle weakness Human_Phenotype_Ontology:HP:0003323,Human_Phenotype_Ontology:HP:0009032,MedGen:C0240421 2 2 1.0000 condition_record_support_limited 20 0 2 Progressive_muscle_weakness 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHAT human_phenotype_ontology_hp_0001763_mondo_mondo_0005293_medgen_c0016202 Pes planus Human_Phenotype_Ontology:HP:0001763,MONDO:MONDO:0005293,MedGen:C0016202 2 2 1.0000 condition_record_support_limited 20 0 2 Pes_planus 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHAT human_phenotype_ontology_hp_0003128_human_phenotype_ontology_hp_0003255_human_phenotype_ontology_hp_0005960_mondo_mondo_0006040_medgen_c0001125 Lactic acidosis Human_Phenotype_Ontology:HP:0003128,Human_Phenotype_Ontology:HP:0003255,Human_Phenotype_Ontology:HP:0005960,MONDO:MONDO:0006040,MedGen:C0001125 2 2 1.0000 condition_record_support_limited 20 0 2 Lactic_acidosis 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHAT human_phenotype_ontology_hp_0002020_human_phenotype_ontology_hp_0004793_medgen_c4317146 Gastroesophageal reflux Human_Phenotype_Ontology:HP:0002020,Human_Phenotype_Ontology:HP:0004793,MedGen:C4317146 2 2 1.0000 condition_record_support_limited 20 0 2 Gastroesophageal_reflux 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHAT human_phenotype_ontology_hp_0002175_human_phenotype_ontology_hp_0002373_human_phenotype_ontology_hp_0007102_medgen_c0009952 Febrile seizure (within the age range of 3 months to 6 years) Human_Phenotype_Ontology:HP:0002175,Human_Phenotype_Ontology:HP:0002373,Human_Phenotype_Ontology:HP:0007102,MedGen:C0009952 2 2 1.0000 condition_record_support_limited 20 0 2 Febrile_seizure_(within_the_age_range_of_3_months_to_6_years) 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHAT human_phenotype_ontology_hp_0000544_human_phenotype_ontology_hp_0007762_medgen_c0162292 External ophthalmoplegia Human_Phenotype_Ontology:HP:0000544,Human_Phenotype_Ontology:HP:0007762,MedGen:C0162292 2 2 1.0000 condition_record_support_limited 20 0 2 External_ophthalmoplegia 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHAT human_phenotype_ontology_hp_0002928_medgen_c1839888 Decreased activity of the pyruvate dehydrogenase complex Human_Phenotype_Ontology:HP:0002928,MedGen:C1839888 2 2 1.0000 condition_record_support_limited 20 0 2 Decreased_activity_of_the_pyruvate_dehydrogenase_complex 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHAT mondo_mondo_0012157_medgen_c1837091_omim_608931_orphanet_590 Congenital myasthenic syndrome 4C MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orphanet:590 2 2 1.0000 condition_record_support_limited 20 0 1 Congenital_myasthenic_syndrome_4C 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHAT human_phenotype_ontology_hp_0010536_mesh_d020182_medgen_c0520680_omim_207720 Central sleep apnea Human_Phenotype_Ontology:HP:0010536,MeSH:D020182,MedGen:C0520680,OMIM:207720 2 2 1.0000 condition_record_support_limited 20 0 2 Central_sleep_apnea 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHAT human_phenotype_ontology_hp_0011951_mondo_mondo_0000265_medgen_c0032290 Aspiration pneumonia Human_Phenotype_Ontology:HP:0011951,MONDO:MONDO:0000265,MedGen:C0032290 2 2 1.0000 condition_record_support_limited 20 0 2 Aspiration_pneumonia 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHAMP1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFTR pseudomonas_aeruginosa_susceptibility_to_chronic_infection_by_in_cystic_fibrosis Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis . 2 2 1.0000 condition_record_support_limited 20 0 2 Pseudomonas_aeruginosa,_susceptibility_to_chronic_infection_by,_in_cystic_fibrosis 1471 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFHR5 mondo_mondo_0013892_medgen_c4055342_omim_614809_orphanet_329931 C3 glomerulonephritis MONDO:MONDO:0013892,MedGen:C4055342,OMIM:614809,Orphanet:329931 2 2 1.0000 condition_record_support_limited 20 0 1 C3_glomerulonephritis 2 low_record_burden_interpretation_limited low_record_burden_gene CFH human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFD mondo_mondo_0042490_medgen_c1859966_omim_202700 Neutropenia, severe congenital, 1, autosomal dominant MONDO:MONDO:0042490,MedGen:C1859966,OMIM:202700 2 2 1.0000 condition_record_support_limited 20 0 2 Neutropenia,_severe_congenital,_1,_autosomal_dominant 14 low_record_burden_interpretation_limited low_record_burden_gene CFD human_phenotype_ontology_hp_0040289_mondo_mondo_0008090_medgen_c0221023_omim_162800_orphanet_2686 Cyclical neutropenia Human_Phenotype_Ontology:HP:0040289,MONDO:MONDO:0008090,MedGen:C0221023,OMIM:162800,Orphanet:2686 2 2 1.0000 condition_record_support_limited 20 0 2 Cyclical_neutropenia 14 low_record_burden_interpretation_limited low_record_burden_gene CFB mondo_mondo_0013042_medgen_c2752038_omim_612924_orphanet_2134 Atypical hemolytic-uremic syndrome with B factor anomaly MONDO:MONDO:0013042,MedGen:C2752038,OMIM:612924,Orphanet:2134 2 2 1.0000 condition_record_support_limited 20 0 2 Atypical_hemolytic-uremic_syndrome_with_B_factor_anomaly 13 low_record_burden_interpretation_limited low_record_burden_gene CFAP96 mondo_mondo_0031052_medgen_c5774212_omim_620028 Developmental and epileptic encephalopathy 106 MONDO:MONDO:0031052,MedGen:C5774212,OMIM:620028 2 2 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy_106 2 low_record_burden_interpretation_limited low_record_burden_gene CFAP91 mondo_mondo_0030926_medgen_c5543033_omim_619177 Spermatogenic failure 51 MONDO:MONDO:0030926,MedGen:C5543033,OMIM:619177 2 2 1.0000 condition_record_support_limited 20 0 1 Spermatogenic_failure_51 2 low_record_burden_interpretation_limited low_record_burden_gene CFAP74 cfap74_related_disorder CFAP74-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 CFAP74-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene CFAP65 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene CFAP53 human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Heterotaxy Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 2 2 1.0000 condition_record_support_limited 20 0 1 Heterotaxy 12 low_record_burden_interpretation_limited low_record_burden_gene CFAP52 mondo_mondo_0030474_medgen_c5562072_omim_619607 Heterotaxy, visceral, 10, autosomal, with male infertility MONDO:MONDO:0030474,MedGen:C5562072,OMIM:619607 2 2 1.0000 condition_record_support_limited 20 0 0 Heterotaxy,_visceral,_10,_autosomal,_with_male_infertility 4 low_record_burden_interpretation_limited low_record_burden_gene CFAP418 cfap418_related_disorder CFAP418-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 CFAP418-related_disorder 26 compact_adjacent_exon_block_opportunity local_compact_architecture CFAP410 cfap410_related_disorder CFAP410-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CFAP410-related_disorder 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP300 cfap300_related_disorder CFAP300-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 CFAP300-related_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP251 medgen_c0403811_orphanet_276234 Non-syndromic male infertility due to sperm motility disorder MedGen:C0403811,Orphanet:276234 2 2 1.0000 condition_record_support_limited 20 0 2 Non-syndromic_male_infertility_due_to_sperm_motility_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene CFAP251 mondo_mondo_0018394_medgen_c4706677_orphanet_399808 Male infertility with teratozoospermia due to single gene mutation MONDO:MONDO:0018394,MedGen:C4706677,Orphanet:399808 2 2 1.0000 condition_record_support_limited 20 0 2 Male_infertility_with_teratozoospermia_due_to_single_gene_mutation 10 low_record_burden_interpretation_limited low_record_burden_gene CFAP221 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 2 2 1.0000 condition_record_support_limited 20 0 2 Primary_ciliary_dyskinesia 4 low_record_burden_interpretation_limited low_record_burden_gene CES1 medgen_c4748035_omim_618057 DRUG METABOLISM, ALTERED, CES1-RELATED MedGen:C4748035,OMIM:618057 2 2 1.0000 condition_record_support_limited 20 0 0 DRUG_METABOLISM,_ALTERED,_CES1-RELATED 2 low_record_burden_interpretation_limited low_record_burden_gene CERS3 mondo_mondo_0017778_medgen_c5848247_orphanet_313 Lamellar ichthyosis MONDO:MONDO:0017778,MedGen:C5848247,Orphanet:313 2 2 1.0000 condition_record_support_limited 20 0 0 Lamellar_ichthyosis 19 low_record_burden_interpretation_limited low_record_burden_gene CERS3 human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Abnormality of the skin Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 2 2 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_skin 19 low_record_burden_interpretation_limited low_record_burden_gene CERS1 mondo_mondo_0014545_medgen_c5190825_omim_616230_orphanet_424027 Progressive myoclonic epilepsy type 8 MONDO:MONDO:0014545,MedGen:C5190825,OMIM:616230,Orphanet:424027 2 2 1.0000 condition_record_support_limited 20 0 0 Progressive_myoclonic_epilepsy_type_8 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CERKL human_phenotype_ontology_hp_0007698_human_phenotype_ontology_hp_0007722_human_phenotype_ontology_hp_0008017_medgen_c1840457 Retinal pigment epithelial atrophy Human_Phenotype_Ontology:HP:0007698,Human_Phenotype_Ontology:HP:0007722,Human_Phenotype_Ontology:HP:0008017,MedGen:C1840457 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_pigment_epithelial_atrophy 202 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CERKL mondo_mondo_0000455_medgen_c0730290_orphanet_1871 Cone dystrophy MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 2 2 1.0000 condition_record_support_limited 20 0 2 Cone_dystrophy 202 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP85L cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 2 2 1.0000 condition_record_support_limited 20 0 2 Cardiovascular_phenotype 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP78 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 2 2 1.0000 condition_record_support_limited 20 0 2 Sensorineural_hearing_loss_disorder 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP76 condition_not_provided condition not provided . 2 2 1.0000 condition_record_support_limited 20 2 0 See_cases 13 low_record_burden_interpretation_limited low_record_burden_gene CEP76 mondo_mondo_0008854_medgen_c2936862_omim_209900 Bardet-Biedl syndrome 1 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 2 2 1.0000 condition_record_support_limited 20 0 0 Bardet-Biedl_syndrome_1 13 low_record_burden_interpretation_limited low_record_burden_gene CEP57 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene CEP55 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 12 low_record_burden_interpretation_limited low_record_burden_gene CEP55 cep55_related_disorder CEP55-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CEP55-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene CEP41 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP41 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP290 human_phenotype_ontology_hp_0006882_medgen_c3278123 Severe hydrocephalus Human_Phenotype_Ontology:HP:0006882,MedGen:C3278123 2 2 1.0000 condition_record_support_limited 20 0 2 Severe_hydrocephalus 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 2 2 1.0000 condition_record_support_limited 20 0 2 Nystagmus 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0002419_medgen_c1865060 Molar tooth sign on MRI Human_Phenotype_Ontology:HP:0002419,MedGen:C1865060 2 2 1.0000 condition_record_support_limited 20 0 2 Molar_tooth_sign_on_MRI 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0004719_medgen_c3275899 Hyperechogenic kidneys Human_Phenotype_Ontology:HP:0004719,MedGen:C3275899 2 2 1.0000 condition_record_support_limited 20 0 2 Hyperechogenic_kidneys 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0002084_human_phenotype_ontology_hp_0002736_human_phenotype_ontology_hp_0100664_medgen_c4551722 Encephalocele Human_Phenotype_Ontology:HP:0002084,Human_Phenotype_Ontology:HP:0002736,Human_Phenotype_Ontology:HP:0100664,MedGen:C4551722 2 2 1.0000 condition_record_support_limited 20 0 2 Encephalocele 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0000800_human_phenotype_ontology_hp_0008737_medgen_c1834931 Cystic renal dysplasia Human_Phenotype_Ontology:HP:0000800,Human_Phenotype_Ontology:HP:0008737,MedGen:C1834931 2 2 1.0000 condition_record_support_limited 20 0 2 Cystic_renal_dysplasia 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0001320_medgen_c1840379 Cerebellar vermis hypoplasia Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 2 2 1.0000 condition_record_support_limited 20 0 2 Cerebellar_vermis_hypoplasia 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0002350_medgen_c1847762 Cerebellar cyst Human_Phenotype_Ontology:HP:0002350,MedGen:C1847762 2 2 1.0000 condition_record_support_limited 20 0 2 Cerebellar_cyst 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0011398_medgen_c1842364 Central hypotonia Human_Phenotype_Ontology:HP:0011398,MedGen:C1842364 2 2 1.0000 condition_record_support_limited 20 0 2 Central_hypotonia 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_nervous_system 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0000077_medgen_c0266292 Abnormality of the kidney Human_Phenotype_Ontology:HP:0000077,MedGen:C0266292 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_kidney 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0001197_medgen_c4025797 Abnormality of prenatal development or birth Human_Phenotype_Ontology:HP:0001197,MedGen:C4025797 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_prenatal_development_or_birth 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP250 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 102 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CEP164 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 136 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP135 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CENPF human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 60 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CENATAC mondo_mondo_0859329_medgen_c5774267_omim_620153 Mosaic variegated aneuploidy syndrome 4 MONDO:MONDO:0859329,MedGen:C5774267,OMIM:620153 2 2 1.0000 condition_record_support_limited 20 0 0 Mosaic_variegated_aneuploidy_syndrome_4 2 low_record_burden_interpretation_limited low_record_burden_gene CEMIP2 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy 2 low_record_burden_interpretation_limited low_record_burden_gene CEMIP2 human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Myopia Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 2 2 1.0000 condition_record_support_limited 20 0 2 Myopia 2 low_record_burden_interpretation_limited low_record_burden_gene CEMIP2 human_phenotype_ontology_hp_0001380_human_phenotype_ontology_hp_0001383_human_phenotype_ontology_hp_0001388_human_phenotype_ontology_hp_0002771_medgen_c0086437 Joint laxity Human_Phenotype_Ontology:HP:0001380,Human_Phenotype_Ontology:HP:0001383,Human_Phenotype_Ontology:HP:0001388,Human_Phenotype_Ontology:HP:0002771,MedGen:C0086437 2 2 1.0000 condition_record_support_limited 20 0 2 Joint_laxity 2 low_record_burden_interpretation_limited low_record_burden_gene CEMIP2 human_phenotype_ontology_hp_0000023_medgen_c0019294 Inguinal hernia Human_Phenotype_Ontology:HP:0000023,MedGen:C0019294 2 2 1.0000 condition_record_support_limited 20 0 2 Inguinal_hernia 2 low_record_burden_interpretation_limited low_record_burden_gene CEMIP2 human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Hypertelorism Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 2 2 1.0000 condition_record_support_limited 20 0 2 Hypertelorism 2 low_record_burden_interpretation_limited low_record_burden_gene CEMIP2 human_phenotype_ontology_hp_0000766_human_phenotype_ontology_hp_0000780_human_phenotype_ontology_hp_0006586_human_phenotype_ontology_hp_0006594_human_phenotype_ontology_hp_0006605_human_phenotype_ontology_hp_0006630_human_phenotype_ontology_hp_0006708_medgen_c1860493 Abnormal sternum morphology Human_Phenotype_Ontology:HP:0000766,Human_Phenotype_Ontology:HP:0000780,Human_Phenotype_Ontology:HP:0006586,Human_Phenotype_Ontology:HP:0006594,Human_Phenotype_Ontology:HP:0006605,Human_Phenotype_Ontology:HP:0006630,Human_Phenotype_Ontology:HP:0006708,MedGen:C1860493 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_sternum_morphology 2 low_record_burden_interpretation_limited low_record_burden_gene CELSR3 gene_100034704_mondo_mondo_0012561_medgen_c1835826_omim_610805 Congenital anomalies of kidney and urinary tract 1 Gene:100034704,MONDO:MONDO:0012561,MedGen:C1835826,OMIM:610805 2 2 1.0000 condition_record_support_limited 20 0 0 Congenital_anomalies_of_kidney_and_urinary_tract_1 13 low_record_burden_interpretation_limited low_record_burden_gene CDSN mondo_mondo_0007805_medgen_c1840299_omim_146520_orphanet_90368 Hypotrichosis 2 MONDO:MONDO:0007805,MedGen:C1840299,OMIM:146520,Orphanet:90368 2 2 1.0000 condition_record_support_limited 20 0 0 Hypotrichosis_2 9 low_record_burden_interpretation_limited low_record_burden_gene CDKN2A human_phenotype_ontology_hp_0002861_human_phenotype_ontology_hp_0002887_human_phenotype_ontology_hp_0006777_human_phenotype_ontology_hp_0007474_mondo_mondo_0005105_mesh_d008545_medgen_c0025202 Melanoma Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202 2 2 1.0000 condition_record_support_limited 20 0 2 Melanoma 168 compact_adjacent_exon_block_opportunity local_compact_architecture CDKN2A mondo_mondo_0015278_medgen_c2931038_omim_260350_orphanet_1333 Familial pancreatic carcinoma MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_pancreatic_carcinoma 168 compact_adjacent_exon_block_opportunity local_compact_architecture CDKN2A human_phenotype_ontology_hp_0004803_human_phenotype_ontology_hp_0005555_human_phenotype_ontology_hp_0006721_mondo_mondo_0004967_medgen_c0023449_omim_613065_orphanet_513 Acute lymphoid leukemia Human_Phenotype_Ontology:HP:0004803,Human_Phenotype_Ontology:HP:0005555,Human_Phenotype_Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513 2 2 1.0000 condition_record_support_limited 20 0 0 Acute_lymphoid_leukemia 168 compact_adjacent_exon_block_opportunity local_compact_architecture CDKN1C mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 rs1_related_disorder RS1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 RS1-related_disorder 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 medgen_c0424605 Developmental delay MedGen:C0424605 2 2 1.0000 condition_record_support_limited 20 0 1 Developmental_delay 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 2 2 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 2 2 1.0000 condition_record_support_limited 20 0 1 Autism 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDK5 mondo_mondo_0014596_medgen_c4225359_omim_616342 Lissencephaly 7 with cerebellar hypoplasia MONDO:MONDO:0014596,MedGen:C4225359,OMIM:616342 2 2 1.0000 condition_record_support_limited 20 0 0 Lissencephaly_7_with_cerebellar_hypoplasia 2 low_record_burden_interpretation_limited low_record_burden_gene CDK4 mondo_mondo_0012183_medgen_c1836892_omim_609048_orphanet_618 Melanoma, cutaneous malignant, susceptibility to, 3 MONDO:MONDO:0012183,MedGen:C1836892,OMIM:609048,Orphanet:618 2 2 1.0000 condition_record_support_limited 20 0 2 Melanoma,_cutaneous_malignant,_susceptibility_to,_3 3 low_record_burden_interpretation_limited low_record_burden_gene CDK4 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 2 2 1.0000 condition_record_support_limited 20 0 2 Hereditary_cancer-predisposing_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene CDK4 mondo_mondo_0018961_medgen_c1512419_orphanet_618 Familial melanoma MONDO:MONDO:0018961,MedGen:C1512419,Orphanet:618 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_melanoma 3 low_record_burden_interpretation_limited low_record_burden_gene CDK10 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDHR1 cdhr1_related_disorder CDHR1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CDHR1-related_disorder 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH23 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 2 2 1.0000 condition_record_support_limited 20 0 1 Sensorineural_hearing_loss_disorder 725 large_gene_or_donor_burden_stress_case donor_burden_stress CDH23 mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 2 2 1.0000 condition_record_support_limited 20 0 2 Nonsyndromic_genetic_hearing_loss 725 large_gene_or_donor_burden_stress_case donor_burden_stress CDH23 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 1.0000 condition_record_support_limited 20 0 2 Hearing_impairment 725 large_gene_or_donor_burden_stress_case donor_burden_stress CDH1 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 2 2 1.0000 condition_record_support_limited 20 0 0 Hereditary_breast_ovarian_cancer_syndrome 622 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CDH1 medgen_c5677027 Diffuse gastric and lobular breast cancer syndrome with cleft lip and with or without cleft palate MedGen:C5677027 2 2 1.0000 condition_record_support_limited 20 0 1 Diffuse_gastric_and_lobular_breast_cancer_syndrome_with_cleft_lip_and_with_or_without_cleft_palate 622 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CDCA7 mondo_mondo_0014828_medgen_c4310799_omim_616910_orphanet_2268 Immunodeficiency-centromeric instability-facial anomalies syndrome 3 MONDO:MONDO:0014828,MedGen:C4310799,OMIM:616910,Orphanet:2268 2 2 1.0000 condition_record_support_limited 20 0 2 Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_3 3 low_record_burden_interpretation_limited low_record_burden_gene CDC73 human_phenotype_ontology_hp_0030427_medgen_c4072940 Ossifying fibroma of the jaw Human_Phenotype_Ontology:HP:0030427,MedGen:C4072940 2 2 1.0000 condition_record_support_limited 20 0 0 Ossifying_fibroma_of_the_jaw 152 compact_adjacent_exon_block_opportunity local_compact_architecture CDC73 cdc73_related_disorder CDC73-related disorder MedGen:CN169292 2 2 1.0000 condition_record_support_limited 20 0 1 CDC73-related_disorder 152 compact_adjacent_exon_block_opportunity local_compact_architecture CDC42 cdc42_related_disorder CDC42-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 CDC42-related_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC14A monogenic_hearing_loss Monogenic hearing loss . 2 2 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC14A human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 2 2 1.0000 condition_record_support_limited 20 0 2 Ear_malformation 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDAN1 cdan1_related_disorder CDAN1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 CDAN1-related_disorder 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD63 mondo_mondo_0018877_medgen_c1405854_orphanet_52427 Retinitis punctata albescens MONDO:MONDO:0018877,MedGen:C1405854,Orphanet:52427 2 2 1.0000 condition_record_support_limited 20 0 2 Retinitis_punctata_albescens 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD63 human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Congenital stationary night blindness Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_stationary_night_blindness 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD55 medgen_c1292305_omim_613793 Cromer blood group system MedGen:C1292305,OMIM:613793 2 2 1.0000 condition_record_support_limited 20 0 2 Cromer_blood_group_system 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD46 medgen_c4055018 Familial Atypical Hemolytic-Uremic Syndrome MedGen:C4055018 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_Atypical_Hemolytic-Uremic_Syndrome 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD4 mondo_mondo_0030981_medgen_c5543220_omim_619238 Immunodeficiency 79 MONDO:MONDO:0030981,MedGen:C5543220,OMIM:619238 2 2 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_79 2 low_record_burden_interpretation_limited low_record_burden_gene CD19 mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 2 2 1.0000 condition_record_support_limited 20 0 0 Inherited_Immunodeficiency_Diseases 14 low_record_burden_interpretation_limited low_record_burden_gene CCT3 mondo_mondo_0976125_medgen_c5975545_omim_621034 Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination MONDO:MONDO:0976125,MedGen:C5975545,OMIM:621034 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_speech_or_visual_impairment_and_brain_hypomyelination 2 low_record_burden_interpretation_limited low_record_burden_gene CCP110 condition_not_provided condition not provided . 2 2 1.0000 condition_record_support_limited 20 2 0 See_cases 2 low_record_burden_interpretation_limited low_record_burden_gene CCNQ condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene CCNH medgen_c3838465 Basal cell carcinoma, somatic MedGen:C3838465 2 2 1.0000 condition_record_support_limited 20 0 0 Basal_cell_carcinoma,_somatic 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCN6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCN6 ccn6_related_disorder CCN6-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CCN6-related_disorder 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCN2 mondo_mondo_0008881_medgen_c0432239_omim_211350_orphanet_1801 Kyphomelic dysplasia MONDO:MONDO:0008881,MedGen:C0432239,OMIM:211350,Orphanet:1801 2 2 1.0000 condition_record_support_limited 20 0 0 Kyphomelic_dysplasia 3 low_record_burden_interpretation_limited low_record_burden_gene CCDC88C human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 2 2 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia 113 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CCDC8 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene CCDC50 mondo_mondo_0011832_medgen_c1843895_omim_607453_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 44 MONDO:MONDO:0011832,MedGen:C1843895,OMIM:607453,Orphanet:90635 2 2 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_nonsyndromic_hearing_loss_44 2 low_record_burden_interpretation_limited low_record_burden_gene CCDC40 mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 Kartagener syndrome MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 2 2 1.0000 condition_record_support_limited 20 0 2 Kartagener_syndrome 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCDC39 respiratory_ciliopathies_including_non_cf_bronchiectasis Respiratory ciliopathies including non-CF bronchiectasis . 2 2 1.0000 condition_record_support_limited 20 0 2 Respiratory_ciliopathies_including_non-CF_bronchiectasis 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCDC34 mondo_mondo_0031077_medgen_c5774236_omim_620084 Spermatogenic failure 76 MONDO:MONDO:0031077,MedGen:C5774236,OMIM:620084 2 2 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_76 2 low_record_burden_interpretation_limited low_record_burden_gene CCDC32 mondo_mondo_0030873_medgen_c5436852_omim_619123 Cardiofacioneurodevelopmental syndrome MONDO:MONDO:0030873,MedGen:C5436852,OMIM:619123 2 2 1.0000 condition_record_support_limited 20 0 0 Cardiofacioneurodevelopmental_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene CCDC22 mondo_mondo_0010499_medgen_c4225419_omim_300963_orphanet_7 Ritscher-Schinzel syndrome 2 MONDO:MONDO:0010499,MedGen:C4225419,OMIM:300963,Orphanet:7 2 2 1.0000 condition_record_support_limited 20 0 2 Ritscher-Schinzel_syndrome_2 3 low_record_burden_interpretation_limited low_record_burden_gene CCDC22 mondo_mondo_0009073_medgen_c4551776_omim_220210_orphanet_7 Ritscher-Schinzel syndrome 1 MONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210,Orphanet:7 2 2 1.0000 condition_record_support_limited 20 0 2 Ritscher-Schinzel_syndrome_1 3 low_record_burden_interpretation_limited low_record_burden_gene CCDC146 mondo_mondo_0971002_medgen_c5935627_omim_620850 Spermatogenic failure 94 MONDO:MONDO:0971002,MedGen:C5935627,OMIM:620850 2 2 1.0000 condition_record_support_limited 20 0 2 Spermatogenic_failure_94 3 low_record_burden_interpretation_limited low_record_burden_gene CCDC146 medgen_c5681166_orphanet_399786 Male infertility with spermatogenesis disorder due to single gene mutation MedGen:C5681166,Orphanet:399786 2 2 1.0000 condition_record_support_limited 20 0 1 Male_infertility_with_spermatogenesis_disorder_due_to_single_gene_mutation 3 low_record_burden_interpretation_limited low_record_burden_gene CCDC146 medgen_c5680032_orphanet_399813 Male infertility due to sperm motility disorder MedGen:C5680032,Orphanet:399813 2 2 1.0000 condition_record_support_limited 20 0 2 Male_infertility_due_to_sperm_motility_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene CC2D2A human_phenotype_ontology_hp_0000088_human_phenotype_ontology_hp_0000107_human_phenotype_ontology_hp_0000109_mondo_mondo_0002473_medgen_c3887499 Renal cyst Human_Phenotype_Ontology:HP:0000088,Human_Phenotype_Ontology:HP:0000107,Human_Phenotype_Ontology:HP:0000109,MONDO:MONDO:0002473,MedGen:C3887499 2 2 1.0000 condition_record_support_limited 20 0 2 Renal_cyst 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A mondo_mondo_0008266_medgen_c4282400_omim_174200 Polydactyly, postaxial, type A1 MONDO:MONDO:0008266,MedGen:C4282400,OMIM:174200 2 2 1.0000 condition_record_support_limited 20 0 2 Polydactyly,_postaxial,_type_A1 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A human_phenotype_ontology_hp_0001562_human_phenotype_ontology_hp_0004638_mondo_mondo_0005881_medgen_c0079924 Oligohydramnios Human_Phenotype_Ontology:HP:0001562,Human_Phenotype_Ontology:HP:0004638,MONDO:MONDO:0005881,MedGen:C0079924 2 2 1.0000 condition_record_support_limited 20 0 2 Oligohydramnios 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A human_phenotype_ontology_hp_0000774_human_phenotype_ontology_hp_0000909_human_phenotype_ontology_hp_0005252_human_phenotype_ontology_hp_0006588_medgen_c0426790 Narrow chest Human_Phenotype_Ontology:HP:0000774,Human_Phenotype_Ontology:HP:0000909,Human_Phenotype_Ontology:HP:0005252,Human_Phenotype_Ontology:HP:0006588,MedGen:C0426790 2 2 1.0000 condition_record_support_limited 20 0 2 Narrow_chest 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 2 Microcephaly 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A human_phenotype_ontology_hp_0001762_mondo_mondo_0007342_medgen_c0009081_omim_119800_orphanet_199315 Clubfoot Human_Phenotype_Ontology:HP:0001762,MONDO:MONDO:0007342,MedGen:C0009081,OMIM:119800,Orphanet:199315 2 2 1.0000 condition_record_support_limited 20 0 2 Clubfoot 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A mondo_mondo_0005308_medgen_c4277690_orphanet_363250 Ciliopathy MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 2 2 1.0000 condition_record_support_limited 20 0 2 Ciliopathy 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A human_phenotype_ontology_hp_0002323_mondo_mondo_0000819_medgen_c0002902_omim_ps206500 Anencephaly Human_Phenotype_Ontology:HP:0002323,MONDO:MONDO:0000819,MedGen:C0002902,OMIM:PS206500 2 2 1.0000 condition_record_support_limited 20 0 2 Anencephaly 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D1A mondo_mondo_0005308_medgen_c4277690_orphanet_363250 Ciliopathy MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 2 2 1.0000 condition_record_support_limited 20 0 0 Ciliopathy 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBY1 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 2 2 1.0000 condition_record_support_limited 20 0 0 Joubert_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene CBX2 mondo_mondo_0013120_medgen_c2751317_omim_613080_orphanet_242 46,XY sex reversal 5 MONDO:MONDO:0013120,MedGen:C2751317,OMIM:613080,Orphanet:242 2 2 1.0000 condition_record_support_limited 20 0 0 46,XY_sex_reversal_5 2 low_record_burden_interpretation_limited low_record_burden_gene CBFB mondo_mondo_0859307_medgen_c5774243_omim_620099 Cleidocranial dysplasia 2 MONDO:MONDO:0859307,MedGen:C5774243,OMIM:620099 2 2 1.0000 condition_record_support_limited 20 0 0 Cleidocranial_dysplasia_2 2 low_record_burden_interpretation_limited low_record_burden_gene CAT medgen_c2936847 Acatalasemia, japanese type MedGen:C2936847 2 2 1.0000 condition_record_support_limited 20 0 0 Acatalasemia,_japanese_type 4 low_record_burden_interpretation_limited low_record_burden_gene CASZ1 efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 2 2 1.0000 condition_record_support_limited 20 0 0 Primary_dilated_cardiomyopathy 7 low_record_burden_interpretation_limited low_record_burden_gene CAST cast_related_disorder CAST-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 CAST-related_disorder 51 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture CAST medgen_c2676498_omim_612362 Body mass index quantitative trait locus 12 MedGen:C2676498,OMIM:612362 2 2 1.0000 condition_record_support_limited 20 0 1 Body_mass_index_quantitative_trait_locus_12 51 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture CASR mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 313 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASQ1 mondo_mondo_0014546_medgen_c4015624_omim_616231_orphanet_88635 Myopathy due to calsequestrin and SERCA1 protein overload MONDO:MONDO:0014546,MedGen:C4015624,OMIM:616231,Orphanet:88635 2 2 1.0000 condition_record_support_limited 20 0 1 Myopathy_due_to_calsequestrin_and_SERCA1_protein_overload 5 low_record_burden_interpretation_limited low_record_burden_gene CASK human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 2 2 1.0000 condition_record_support_limited 20 0 2 Nystagmus 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASK mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASK cask_related_syndromic_intellectual_disability CASK-related syndromic intellectual disability . 2 2 1.0000 condition_record_support_limited 20 0 1 CASK-related_syndromic_intellectual_disability 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASK mondo_mondo_0010480_medgen_c2720289_omim_300908_orphanet_466026 Anemia, nonspherocytic hemolytic, due to G6PD deficiency MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026 2 2 1.0000 condition_record_support_limited 20 0 2 Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASD1 sgce_related_disorder SGCE-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SGCE-related_disorder 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASD1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPZA2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene CAPNS1 mondo_mondo_0958334_medgen_c5935600_omim_620777 Pulmonary hypertension, primary, 6 MONDO:MONDO:0958334,MedGen:C5935600,OMIM:620777 2 2 1.0000 condition_record_support_limited 20 0 0 Pulmonary_hypertension,_primary,_6 2 low_record_burden_interpretation_limited low_record_burden_gene CAPN3 human_phenotype_ontology_hp_0009067_mondo_mondo_0018687_medgen_c4082951_orphanet_454706 Progressive spinal muscular atrophy Human_Phenotype_Ontology:HP:0009067,MONDO:MONDO:0018687,MedGen:C4082951,Orphanet:454706 2 2 1.0000 condition_record_support_limited 20 0 2 Progressive_spinal_muscular_atrophy 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 human_phenotype_ontology_hp_0002403_medgen_c0240914 Positive Romberg sign Human_Phenotype_Ontology:HP:0002403,MedGen:C0240914 2 2 1.0000 condition_record_support_limited 20 0 2 Positive_Romberg_sign 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 human_phenotype_ontology_hp_0002082_human_phenotype_ontology_hp_0003401_medgen_c0030554 Paresthesia Human_Phenotype_Ontology:HP:0002082,Human_Phenotype_Ontology:HP:0003401,MedGen:C0030554 2 2 1.0000 condition_record_support_limited 20 0 2 Paresthesia 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 2 2 1.0000 condition_record_support_limited 20 0 2 Myopathy 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Muscular dystrophy Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 2 2 1.0000 condition_record_support_limited 20 0 2 Muscular_dystrophy 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 human_phenotype_ontology_hp_0002076_human_phenotype_ontology_hp_0007194_mondo_mondo_0005277_medgen_c0149931 Migraine Human_Phenotype_Ontology:HP:0002076,Human_Phenotype_Ontology:HP:0007194,MONDO:MONDO:0005277,MedGen:C0149931 2 2 1.0000 condition_record_support_limited 20 0 2 Migraine 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 human_phenotype_ontology_hp_0005750_medgen_c1859523 Lower-limb joint contracture Human_Phenotype_Ontology:HP:0005750,MedGen:C1859523 2 2 1.0000 condition_record_support_limited 20 0 2 Lower-limb_joint_contracture 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Limb-girdle muscular dystrophy Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 2 2 1.0000 condition_record_support_limited 20 0 2 Limb-girdle_muscular_dystrophy 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Elevated circulating creatine kinase concentration Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 2 2 1.0000 condition_record_support_limited 20 0 2 Elevated_circulating_creatine_kinase_concentration 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 human_phenotype_ontology_hp_0002987_human_phenotype_ontology_hp_0003937_human_phenotype_ontology_hp_0004984_human_phenotype_ontology_hp_0005654_medgen_c0409338 Elbow flexion contracture Human_Phenotype_Ontology:HP:0002987,Human_Phenotype_Ontology:HP:0003937,Human_Phenotype_Ontology:HP:0004984,Human_Phenotype_Ontology:HP:0005654,MedGen:C0409338 2 2 1.0000 condition_record_support_limited 20 0 2 Elbow_flexion_contracture 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 human_phenotype_ontology_hp_0002178_human_phenotype_ontology_hp_0002547_human_phenotype_ontology_hp_0003445_human_phenotype_ontology_hp_0007279_medgen_c4021727 EMG: neuropathic changes Human_Phenotype_Ontology:HP:0002178,Human_Phenotype_Ontology:HP:0002547,Human_Phenotype_Ontology:HP:0003445,Human_Phenotype_Ontology:HP:0007279,MedGen:C4021727 2 2 1.0000 condition_record_support_limited 20 0 2 EMG:_neuropathic_changes 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 human_phenotype_ontology_hp_0002355_human_phenotype_ontology_hp_0007101_human_phenotype_ontology_hp_0009030_medgen_c0311394 Difficulty walking Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394 2 2 1.0000 condition_record_support_limited 20 0 2 Difficulty_walking 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 Cardiac arrhythmia EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 2 2 1.0000 condition_record_support_limited 20 0 2 Cardiac_arrhythmia 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 human_phenotype_ontology_hp_0030120_medgen_c4022625 Absent muscle fiber calpain-3 Human_Phenotype_Ontology:HP:0030120,MedGen:C4022625 2 2 1.0000 condition_record_support_limited 20 0 2 Absent_muscle_fiber_calpain-3 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 human_phenotype_ontology_hp_0003438_human_phenotype_ontology_hp_0007032_human_phenotype_ontology_hp_0007241_medgen_c0558845 Absent Achilles reflex Human_Phenotype_Ontology:HP:0003438,Human_Phenotype_Ontology:HP:0007032,Human_Phenotype_Ontology:HP:0007241,MedGen:C0558845 2 2 1.0000 condition_record_support_limited 20 0 2 Absent_Achilles_reflex 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN1 capn1_related_disorder CAPN1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 CAPN1-related_disorder 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CANT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CANT1 cant1_related_disorder CANT1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CANT1-related_disorder 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAMTA1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAMK4 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene CAMK2D condition_not_provided condition not provided .|MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 See_cases|not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene CAMK2B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 17 low_record_burden_interpretation_limited low_record_burden_gene CALR condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene CALR mondo_mondo_0008554_medgen_c3277671_omim_187950 Thrombocythemia 1 MONDO:MONDO:0008554,MedGen:C3277671,OMIM:187950 2 2 1.0000 condition_record_support_limited 20 0 2 Thrombocythemia_1 2 low_record_burden_interpretation_limited low_record_burden_gene CALR mondo_mondo_0009692_mesh_d055728_medgen_c0001815_omim_254450_orphanet_824 Primary myelofibrosis MONDO:MONDO:0009692,MeSH:D055728,MedGen:C0001815,OMIM:254450,Orphanet:824 2 2 1.0000 condition_record_support_limited 20 0 2 Primary_myelofibrosis 2 low_record_burden_interpretation_limited low_record_burden_gene CALM3 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN517202 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene CALM1 mondo_mondo_0011484_medgen_c1631597_omim_604772_orphanet_3286 Catecholaminergic polymorphic ventricular tachycardia 1 MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286 2 2 1.0000 condition_record_support_limited 20 0 2 Catecholaminergic_polymorphic_ventricular_tachycardia_1 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CALM1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 2 2 1.0000 condition_record_support_limited 20 0 2 Cardiovascular_phenotype 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CALM1 calm1_related_disorder CALM1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CALM1-related_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNB4 mondo_mondo_0011892_medgen_c2750887_omim_607682_orphanet_307 Epilepsy, idiopathic generalized, susceptibility to, 9 MONDO:MONDO:0011892,MedGen:C2750887,OMIM:607682,Orphanet:307 2 2 1.0000 condition_record_support_limited 20 0 0 Epilepsy,_idiopathic_generalized,_susceptibility_to,_9 3 low_record_burden_interpretation_limited low_record_burden_gene CACNB2 mondo_mondo_0012743_medgen_c2678477_omim_611876_orphanet_130 Brugada syndrome 4 MONDO:MONDO:0012743,MedGen:C2678477,OMIM:611876,Orphanet:130 2 2 1.0000 condition_record_support_limited 20 0 0 Brugada_syndrome_4 2 low_record_burden_interpretation_limited low_record_burden_gene CACNA2D4 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene CACNA1S mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 Congenital myopathy MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 2 2 1.0000 condition_record_support_limited 20 0 0 Congenital_myopathy 126 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1S human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 2 2 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_musculature 126 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1H human_phenotype_ontology_hp_0011736_mondo_mondo_0001422_medgen_c1384514 Primary aldosteronism Human_Phenotype_Ontology:HP:0011736,MONDO:MONDO:0001422,MedGen:C1384514 2 2 1.0000 condition_record_support_limited 20 0 1 Primary_aldosteronism 8 low_record_burden_interpretation_limited low_record_burden_gene CACNA1H mondo_mondo_0014875_medgen_c4310756_omim_617027_orphanet_642671 Hyperaldosteronism, familial, type IV MONDO:MONDO:0014875,MedGen:C4310756,OMIM:617027,Orphanet:642671 2 2 1.0000 condition_record_support_limited 20 0 2 Hyperaldosteronism,_familial,_type_IV 8 low_record_burden_interpretation_limited low_record_burden_gene CACNA1G human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 2 2 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1F x_linked_cacna1f_related_disorders X-linked CACNA1F-related disorders . 2 2 1.0000 condition_record_support_limited 20 0 2 X-linked_CACNA1F-related_disorders 189 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1D mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 21 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1C human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1C mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 Congenital long QT syndrome MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_long_QT_syndrome 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1C efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 Cardiac arrhythmia EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 2 2 1.0000 condition_record_support_limited 20 0 2 Cardiac_arrhythmia 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1C mondo_mondo_0015263_medgen_c1142166_omim_ps601144_orphanet_130 Brugada syndrome MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130 2 2 1.0000 condition_record_support_limited 20 0 2 Brugada_syndrome 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A paroxysmal_central_nervous_system_disorders Paroxysmal central nervous system disorders . 2 2 1.0000 condition_record_support_limited 20 0 2 Paroxysmal_central_nervous_system_disorders 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A human_phenotype_ontology_hp_0002131_human_phenotype_ontology_hp_0006862_human_phenotype_ontology_hp_0007152_human_phenotype_ontology_hp_0007214_mondo_mondo_0016227_medgen_c1720189_omim_ps160120_orphanet_211062 Hereditary episodic ataxia Human_Phenotype_Ontology:HP:0002131,Human_Phenotype_Ontology:HP:0006862,Human_Phenotype_Ontology:HP:0007152,Human_Phenotype_Ontology:HP:0007214,MONDO:MONDO:0016227,MedGen:C1720189,OMIM:PS160120,Orphanet:211062 2 2 1.0000 condition_record_support_limited 20 0 2 Hereditary_episodic_ataxia 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 2 2 1.0000 condition_record_support_limited 20 0 2 Epileptic_encephalopathy 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 2 2 1.0000 condition_record_support_limited 20 0 2 Cerebellar_ataxia 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CABP2 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive 11 low_record_burden_interpretation_limited low_record_burden_gene CABP2 cabp2_related_disorder CABP2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 CABP2-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene CA4 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 14 low_record_burden_interpretation_limited low_record_burden_gene CA2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CA2 carbonic_anhydrase_ii_variant CARBONIC ANHYDRASE II VARIANT . 2 2 1.0000 condition_record_support_limited 20 0 0 CARBONIC_ANHYDRASE_II_VARIANT 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CA2 ca2_related_disorder CA2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 CA2-related_disorder 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C8B mondo_mondo_0012908_medgen_c2676232_omim_612446 Complement component 6 deficiency MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446 2 2 1.0000 condition_record_support_limited 20 0 2 Complement_component_6_deficiency 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C3 medgen_c4055018 Familial Atypical Hemolytic-Uremic Syndrome MedGen:C4055018 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_Atypical_Hemolytic-Uremic_Syndrome 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C3 medgen_c1332655 C3 DEFICIENCY MedGen:C1332655 2 2 1.0000 condition_record_support_limited 20 0 2 C3_DEFICIENCY 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C2CD3 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 2 2 1.0000 condition_record_support_limited 20 0 1 Joubert_syndrome 82 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture C2CD3 c2cd3_related_disorder C2CD3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 C2CD3-related_disorder 82 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture C1S mondo_mondo_0020684_medgen_c4551499_omim_130080_orphanet_75392 Ehlers-Danlos syndrome, periodontal type 1 MONDO:MONDO:0020684,MedGen:C4551499,OMIM:130080,Orphanet:75392 2 2 1.0000 condition_record_support_limited 20 0 2 Ehlers-Danlos_syndrome,_periodontal_type_1 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C1QC condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene C1QC mondo_mondo_0013343_medgen_c3150902_omim_ps613652 C1Q deficiency MONDO:MONDO:0013343,MedGen:C3150902,OMIM:PS613652 2 2 1.0000 condition_record_support_limited 20 0 2 C1Q_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene C1QB condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene C19ORF12 c19orf12_related_disorder C19orf12-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 C19orf12-related_disorder 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C17ORF107 human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 2 2 1.0000 condition_record_support_limited 20 0 1 Tip-toe_gait 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C14ORF39 human_phenotype_ontology_hp_0000647_mondo_mondo_0019629_medgen_c1853235_orphanet_91490 Sclerocornea Human_Phenotype_Ontology:HP:0000647,MONDO:MONDO:0019629,MedGen:C1853235,Orphanet:91490 2 2 1.0000 condition_record_support_limited 20 0 2 Sclerocornea 17 low_record_burden_interpretation_limited low_record_burden_gene C14ORF39 human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 2 2 1.0000 condition_record_support_limited 20 0 2 Developmental_cataract 17 low_record_burden_interpretation_limited low_record_burden_gene C12ORF60 human_phenotype_ontology_hp_0002610_human_phenotype_ontology_hp_0004401_human_phenotype_ontology_hp_0004402_mondo_mondo_0054868_medgen_c2939175_orphanet_314376 Meconium ileus Human_Phenotype_Ontology:HP:0002610,Human_Phenotype_Ontology:HP:0004401,Human_Phenotype_Ontology:HP:0004402,MONDO:MONDO:0054868,MedGen:C2939175,Orphanet:314376 2 2 1.0000 condition_record_support_limited 20 0 0 Meconium_ileus 3 low_record_burden_interpretation_limited low_record_burden_gene C12ORF57 human_phenotype_ontology_hp_0001257_medgen_c0026838 Spasticity Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 2 2 1.0000 condition_record_support_limited 20 0 2 Spasticity 27 compact_adjacent_exon_block_opportunity local_compact_architecture C12ORF57 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 27 compact_adjacent_exon_block_opportunity local_compact_architecture C12ORF43 mondo_mondo_0010894_medgen_c1838100_omim_600496_orphanet_552 Maturity-onset diabetes of the young type 3 MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552 2 2 1.0000 condition_record_support_limited 20 0 2 Maturity-onset_diabetes_of_the_young_type_3 10 low_record_burden_interpretation_limited low_record_burden_gene C12ORF43 human_phenotype_ontology_hp_0004904_mondo_mondo_0018911_medgen_c0342276_omim_ps125850_orphanet_552 Maturity-onset diabetes of the young Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552 2 2 1.0000 condition_record_support_limited 20 0 2 Maturity-onset_diabetes_of_the_young 10 low_record_burden_interpretation_limited low_record_burden_gene C11ORF65 mondo_mondo_0019468_medgen_c2363142_orphanet_86871 T-cell prolymphocytic leukemia MONDO:MONDO:0019468,MedGen:C2363142,Orphanet:86871 2 2 1.0000 condition_record_support_limited 20 0 2 T-cell_prolymphocytic_leukemia 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 inherited_prostate_cancer Inherited prostate cancer . 2 2 1.0000 condition_record_support_limited 20 0 2 Inherited_prostate_cancer 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 2 2 1.0000 condition_record_support_limited 20 0 2 Carcinoma_of_colon 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 medgen_c4017102 Ataxia-telangiectasia without immunodeficiency MedGen:C4017102 2 2 1.0000 condition_record_support_limited 20 0 2 Ataxia-telangiectasia_without_immunodeficiency 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C10ORF105 mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 Usher syndrome MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 2 2 1.0000 condition_record_support_limited 20 0 2 Usher_syndrome 65 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture C10ORF105 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 2 Hearing_loss,_autosomal_recessive 65 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture BUB1B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BUB1 medgen_c5231530 Colorectal cancer with chromosomal instability, somatic MedGen:C5231530 2 2 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer_with_chromosomal_instability,_somatic 6 low_record_burden_interpretation_limited low_record_burden_gene BTK btk_related_disorder BTK-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 BTK-related_disorder 348 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BTD human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 251 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BSND medgen_c2748440 Sensorineural deafness with mild renal dysfunction MedGen:C2748440 2 2 1.0000 condition_record_support_limited 20 0 2 Sensorineural_deafness_with_mild_renal_dysfunction 39 compact_adjacent_exon_block_opportunity local_compact_architecture BSND mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 2 Hearing_loss,_autosomal_recessive 39 compact_adjacent_exon_block_opportunity local_compact_architecture BSN bsn_associated_seizure_disorder BSN-associated seizure disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 BSN-associated_seizure_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene BSCL2 mondo_mondo_0015353_medgen_cn031873_omim_600794_orphanet_139536 Neuronopathy, distal hereditary motor, type 5A MONDO:MONDO:0015353,MedGen:CN031873,OMIM:600794,Orphanet:139536 2 2 1.0000 condition_record_support_limited 20 0 2 Neuronopathy,_distal_hereditary_motor,_type_5A 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BSCL2 human_phenotype_ontology_hp_0009125_mondo_mondo_0006573_medgen_c0023787 Lipodystrophy Human_Phenotype_Ontology:HP:0009125,MONDO:MONDO:0006573,MedGen:C0023787 2 2 1.0000 condition_record_support_limited 20 0 2 Lipodystrophy 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BSCL2 bscl2_related_disorder BSCL2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 BSCL2-related_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRWD3 brwd3_related_disorder BRWD3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 BRWD3-related_disorder 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BRSK2 brsk2_related_disorder BRSK2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 BRSK2-related_disorder 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRPF1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRPF1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRIP1 mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 Fanconi anemia MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 2 2 1.0000 condition_record_support_limited 20 0 1 Fanconi_anemia 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRIP1 mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 Carcinoma of pancreas MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 2 2 1.0000 condition_record_support_limited 20 0 1 Carcinoma_of_pancreas 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRIP1 medgen_c4016951 Breast cancer, early-onset MedGen:C4016951 2 2 1.0000 condition_record_support_limited 20 0 2 Breast_cancer,_early-onset 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRF1 brf1_related_disorder BRF1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 BRF1-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene BRD4 mondo_mondo_0000508_medgen_c5680525_orphanet_183763 Syndromic intellectual disability MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 2 2 1.0000 condition_record_support_limited 20 0 0 Syndromic_intellectual_disability 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRD4 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 1.0000 condition_record_support_limited 20 0 0 Short_stature 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA2 mondo_mondo_0004953_medgen_c1412014 Infiltrating duct carcinoma of breast MONDO:MONDO:0004953,MedGen:C1412014 2 2 1.0000 condition_record_support_limited 20 0 0 Infiltrating_duct_carcinoma_of_breast 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_0018604_medgen_c3896578_orphanet_440437 Familial colorectal cancer type X MONDO:MONDO:0018604,MedGen:C3896578,Orphanet:440437 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_colorectal_cancer_type_X 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 human_phenotype_ontology_hp_0010762_mondo_mondo_0008978_medgen_c0008487_orphanet_178 Chordoma Human_Phenotype_Ontology:HP:0010762,MONDO:MONDO:0008978,MedGen:C0008487,Orphanet:178 2 2 1.0000 condition_record_support_limited 20 0 2 Chordoma 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Rhabdomyosarcoma Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 2 2 1.0000 condition_record_support_limited 20 0 2 Rhabdomyosarcoma 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 inherited_prostate_cancer Inherited prostate cancer . 2 2 1.0000 condition_record_support_limited 20 0 2 Inherited_prostate_cancer 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 mondo_mondo_0004953_medgen_c1412014 Infiltrating duct carcinoma of breast MONDO:MONDO:0004953,MedGen:C1412014 2 2 1.0000 condition_record_support_limited 20 0 2 Infiltrating_duct_carcinoma_of_breast 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 mondo_mondo_0009215_medgen_c3469521_omim_227650_orphanet_84 Fanconi anemia complementation group A MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84 2 2 1.0000 condition_record_support_limited 20 0 2 Fanconi_anemia_complementation_group_A 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 2 2 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 mondo_mondo_0012933_medgen_c2675520_omim_612555_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 2 MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145 2 2 1.0000 condition_record_support_limited 20 0 2 Breast-ovarian_cancer,_familial,_susceptibility_to,_2 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRAF mondo_mondo_0024291_medgen_c0158570 Vascular malformation MONDO:MONDO:0024291,MedGen:C0158570 2 2 1.0000 condition_record_support_limited 20 0 1 Vascular_malformation 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF mondo_mondo_0007893_medgen_c0175704_omim_ps151100_orphanet_500 Noonan syndrome with multiple lentigines MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100,Orphanet:500 2 2 1.0000 condition_record_support_limited 20 0 2 Noonan_syndrome_with_multiple_lentigines 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF human_phenotype_ontology_hp_0012539_mondo_mondo_0018908_medgen_c0024305_orphanet_547 Non-Hodgkin lymphoma Human_Phenotype_Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547 2 2 1.0000 condition_record_support_limited 20 0 2 Non-Hodgkin_lymphoma 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_delay 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF human_phenotype_ontology_hp_0002861_human_phenotype_ontology_hp_0002887_human_phenotype_ontology_hp_0006777_human_phenotype_ontology_hp_0007474_mondo_mondo_0005105_mesh_d008545_medgen_c0025202 Melanoma Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202 2 2 1.0000 condition_record_support_limited 20 0 2 Melanoma 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF mondo_mondo_0008840_medgen_c0004135_omim_208900_orphanet_100 Ataxia-telangiectasia syndrome MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100 2 2 1.0000 condition_record_support_limited 20 0 2 Ataxia-telangiectasia_syndrome 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BPTF human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BOD1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene BNC2 mondo_mondo_0032833_medgen_c5231427_omim_618612 Lower urinary tract obstruction, congenital MONDO:MONDO:0032833,MedGen:C5231427,OMIM:618612 2 2 1.0000 condition_record_support_limited 20 0 2 Lower_urinary_tract_obstruction,_congenital 2 low_record_burden_interpretation_limited low_record_burden_gene BNC2 lower_urinary_tract_obstruction Lower Urinary Tract Obstruction . 2 2 1.0000 condition_record_support_limited 20 0 2 Lower_Urinary_Tract_Obstruction 2 low_record_burden_interpretation_limited low_record_burden_gene BNC1 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 2 2 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 4 low_record_burden_interpretation_limited low_record_burden_gene BMPR2 medgen_c1969342 Pulmonary hypertension, primary, dexfenfluramine-associated MedGen:C1969342 2 2 1.0000 condition_record_support_limited 20 0 1 Pulmonary_hypertension,_primary,_dexfenfluramine-associated 502 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMPR2 medgen_c5679756_orphanet_275791 Pulmonary arterial hypertension associated with another disease MedGen:C5679756,Orphanet:275791 2 2 1.0000 condition_record_support_limited 20 0 2 Pulmonary_arterial_hypertension_associated_with_another_disease 502 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMP5 human_phenotype_ontology_hp_0003046_human_phenotype_ontology_hp_0006443_human_phenotype_ontology_hp_0006475_medgen_c1868578 Patellar aplasia Human_Phenotype_Ontology:HP:0003046,Human_Phenotype_Ontology:HP:0006443,Human_Phenotype_Ontology:HP:0006475,MedGen:C1868578 2 2 1.0000 condition_record_support_limited 20 0 2 Patellar_aplasia 2 low_record_burden_interpretation_limited low_record_burden_gene BMP5 human_phenotype_ontology_hp_0000393_human_phenotype_ontology_hp_0000409_human_phenotype_ontology_hp_0008550_human_phenotype_ontology_hp_0008551_human_phenotype_ontology_hp_0008618_human_phenotype_ontology_hp_0008621_medgen_c0152423 Microtia Human_Phenotype_Ontology:HP:0000393,Human_Phenotype_Ontology:HP:0000409,Human_Phenotype_Ontology:HP:0008550,Human_Phenotype_Ontology:HP:0008551,Human_Phenotype_Ontology:HP:0008618,Human_Phenotype_Ontology:HP:0008621,MedGen:C0152423 2 2 1.0000 condition_record_support_limited 20 0 2 Microtia 2 low_record_burden_interpretation_limited low_record_burden_gene BMP5 human_phenotype_ontology_hp_0008822_medgen_c4024617 Hypoplastic ischiopubic ramus Human_Phenotype_Ontology:HP:0008822,MedGen:C4024617 2 2 1.0000 condition_record_support_limited 20 0 2 Hypoplastic_ischiopubic_ramus 2 low_record_burden_interpretation_limited low_record_burden_gene BMP5 human_phenotype_ontology_hp_0005139_human_phenotype_ontology_hp_0005298_human_phenotype_ontology_hp_0006695_human_phenotype_ontology_hp_0010439_medgen_c1389016 Atrioventricular canal defect Human_Phenotype_Ontology:HP:0005139,Human_Phenotype_Ontology:HP:0005298,Human_Phenotype_Ontology:HP:0006695,Human_Phenotype_Ontology:HP:0010439,MedGen:C1389016 2 2 1.0000 condition_record_support_limited 20 0 2 Atrioventricular_canal_defect 2 low_record_burden_interpretation_limited low_record_burden_gene BMP4 mondo_mondo_0010906_medgen_c2677434_omim_600625 Orofacial cleft 11 MONDO:MONDO:0010906,MedGen:C2677434,OMIM:600625 2 2 1.0000 condition_record_support_limited 20 0 2 Orofacial_cleft_11 16 low_record_burden_interpretation_limited low_record_burden_gene BMP2 human_phenotype_ontology_hp_0009372_mondo_mondo_0007216_medgen_c1832702_omim_112600_orphanet_93396 Type A2 brachydactyly Human_Phenotype_Ontology:HP:0009372,MONDO:MONDO:0007216,MedGen:C1832702,OMIM:112600,Orphanet:93396 2 2 1.0000 condition_record_support_limited 20 0 1 Type_A2_brachydactyly 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMP2 bmp2_related_disorder BMP2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 BMP2-related_disorder 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMP15 medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 2 2 1.0000 condition_record_support_limited 20 0 0 Genetic_non-acquired_premature_ovarian_failure 11 low_record_burden_interpretation_limited low_record_burden_gene BLTP1 human_phenotype_ontology_hp_0006882_medgen_c3278123 Severe hydrocephalus Human_Phenotype_Ontology:HP:0006882,MedGen:C3278123 2 2 1.0000 condition_record_support_limited 20 0 2 Severe_hydrocephalus 53 large_gene_or_donor_burden_stress_case donor_burden_stress BLTP1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 2 2 1.0000 condition_record_support_limited 20 0 2 Fetal_akinesia_deformation_sequence_1 53 large_gene_or_donor_burden_stress_case donor_burden_stress BLOC1S6 mondo_mondo_0019312_medgen_c0079504_omim_ps203300_orphanet_79430 Hermansky-Pudlak syndrome MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430 2 2 1.0000 condition_record_support_limited 20 0 2 Hermansky-Pudlak_syndrome 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BLNK blnk_related_disorder BLNK-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 BLNK-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene BLK human_phenotype_ontology_hp_0002725_mondo_mondo_0007915_medgen_c0024141_omim_152700_orphanet_536 Systemic lupus erythematosus Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536 2 2 1.0000 condition_record_support_limited 20 0 0 Systemic_lupus_erythematosus 3 low_record_burden_interpretation_limited low_record_burden_gene BICRA bicra_related_disorder BICRA-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 BICRA-related_disorder 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BFSP2 mondo_mondo_0012701_medgen_c3808115_omim_611597_orphanet_91492 Cataract 12 multiple types MONDO:MONDO:0012701,MedGen:C3808115,OMIM:611597,Orphanet:91492 2 2 1.0000 condition_record_support_limited 20 0 1 Cataract_12_multiple_types 3 low_record_burden_interpretation_limited low_record_burden_gene BEST1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BEST1 mondo_mondo_0957048_medgen_c5681367_orphanet_519302 Isolated macular dystrophy MONDO:MONDO:0957048,MedGen:C5681367,Orphanet:519302 2 2 1.0000 condition_record_support_limited 20 0 2 Isolated_macular_dystrophy 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BDP1 mondo_mondo_0032639_medgen_c4748855_omim_618257 Hearing loss, autosomal recessive 112 MONDO:MONDO:0032639,MedGen:C4748855,OMIM:618257 2 2 1.0000 condition_record_support_limited 20 0 0 Hearing_loss,_autosomal_recessive_112 3 low_record_burden_interpretation_limited low_record_burden_gene BCS1L medgen_c4016851 BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY MedGen:C4016851 2 2 1.0000 condition_record_support_limited 20 0 2 BJORNSTAD_SYNDROME_WITH_MILD_MITOCHONDRIAL_COMPLEX_III_DEFICIENCY 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCORL1 mondo_mondo_0026727_medgen_c5193146_omim_301029 Shukla-Vernon syndrome MONDO:MONDO:0026727,MedGen:C5193146,OMIM:301029 2 2 1.0000 condition_record_support_limited 20 0 0 Shukla-Vernon_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene BCORL1 mondo_mondo_0850098_medgen_cn372097 Oligoasthenoteratozoospermia MONDO:MONDO:0850098,MedGen:CN372097 2 2 1.0000 condition_record_support_limited 20 0 0 Oligoasthenoteratozoospermia 7 low_record_burden_interpretation_limited low_record_burden_gene BCOR human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 2 2 1.0000 condition_record_support_limited 20 0 1 Developmental_cataract 114 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BCLAF1 human_phenotype_ontology_hp_0004935_medgen_c0265908 Pulmonary artery atresia Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908 2 2 1.0000 condition_record_support_limited 20 0 0 Pulmonary_artery_atresia 2 low_record_burden_interpretation_limited low_record_burden_gene BCL11A mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_cerebellar_hypoplasia 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL10 mondo_mondo_0005065_medgen_c0025500 Mesothelioma MONDO:MONDO:0005065,MedGen:C0025500 2 2 1.0000 condition_record_support_limited 20 0 1 Mesothelioma 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCKDHB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCAP31 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 17 low_record_burden_interpretation_limited low_record_burden_gene BBS9 medgen_c4013980 Early onset severe obesity MedGen:C4013980 2 2 1.0000 condition_record_support_limited 20 0 2 Early_onset_severe_obesity 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS9 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_eye 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS7 mondo_mondo_0008854_medgen_c2936862_omim_209900 Bardet-Biedl syndrome 1 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 2 2 1.0000 condition_record_support_limited 20 0 2 Bardet-Biedl_syndrome_1 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS4 mondo_mondo_0008854_medgen_c2936862_omim_209900 Bardet-Biedl syndrome 1 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 2 2 1.0000 condition_record_support_limited 20 0 2 Bardet-Biedl_syndrome_1 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS2 human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 2 2 1.0000 condition_record_support_limited 20 0 1 Focal_segmental_glomerulosclerosis 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS2 medgen_c4013980 Early onset severe obesity MedGen:C4013980 2 2 1.0000 condition_record_support_limited 20 0 2 Early_onset_severe_obesity 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS2 medgen_c4016957 Bardet-biedl syndrome 1/2, digenic MedGen:C4016957 2 2 1.0000 condition_record_support_limited 20 0 2 Bardet-biedl_syndrome_1/2,_digenic 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS2 medgen_c4016908 BARDET-BIEDL SYNDROME 2/6, DIGENIC MedGen:C4016908 2 2 1.0000 condition_record_support_limited 20 0 2 BARDET-BIEDL_SYNDROME_2/6,_DIGENIC 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS12 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS10 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS10 medgen_c4013980 Early onset severe obesity MedGen:C4013980 2 2 1.0000 condition_record_support_limited 20 0 1 Early_onset_severe_obesity 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BAZ2B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 18 low_record_burden_interpretation_limited low_record_burden_gene BAZ2B baz2b_related_neurodevelopmental_disorder BAZ2B-related Neurodevelopmental disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 BAZ2B-related_Neurodevelopmental_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene BAX human_phenotype_ontology_hp_0006727_mondo_mondo_0004963_medgen_c1961099 T-cell acute lymphoblastic leukemia Human_Phenotype_Ontology:HP:0006727,MONDO:MONDO:0004963,MedGen:C1961099 2 2 1.0000 condition_record_support_limited 20 0 0 T-cell_acute_lymphoblastic_leukemia 4 low_record_burden_interpretation_limited low_record_burden_gene BARD1 medgen_c2348819 Triple-Negative Breast Cancer Finding MedGen:C2348819 2 2 1.0000 condition_record_support_limited 20 0 2 Triple-Negative_Breast_Cancer_Finding 610 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BARD1 human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 2 2 1.0000 condition_record_support_limited 20 0 2 Breast_carcinoma 610 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BAG3 human_phenotype_ontology_hp_0012819_mondo_mondo_0004496_medgen_c0027059 Myocarditis Human_Phenotype_Ontology:HP:0012819,MONDO:MONDO:0004496,MedGen:C0027059 2 2 1.0000 condition_record_support_limited 20 0 2 Myocarditis 154 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B9D1 mondo_mondo_0013630_medgen_c3280155_omim_614209_orphanet_564 Meckel syndrome, type 9 MONDO:MONDO:0013630,MedGen:C3280155,OMIM:614209,Orphanet:564 2 2 1.0000 condition_record_support_limited 20 0 2 Meckel_syndrome,_type_9 14 low_record_burden_interpretation_limited low_record_burden_gene B4GALT1 mondo_mondo_0011772_medgen_c2931009_omim_607091_orphanet_79332 B4GALT1-congenital disorder of glycosylation MONDO:MONDO:0011772,MedGen:C2931009,OMIM:607091,Orphanet:79332 2 2 1.0000 condition_record_support_limited 20 0 0 B4GALT1-congenital_disorder_of_glycosylation 3 low_record_burden_interpretation_limited low_record_burden_gene B3GLCT b3glct_related_disorder B3GLCT-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 B3GLCT-related_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B3GAT3 multiple_joint_dislocations_short_stature_and_craniofacial_dysmorphism_with_congenital_heart_defects MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS . 2 2 1.0000 condition_record_support_limited 20 0 2 MULTIPLE_JOINT_DISLOCATIONS,_SHORT_STATURE,_AND_CRANIOFACIAL_DYSMORPHISM_WITH_CONGENITAL_HEART_DEFECTS 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B3GALNT2 b3galnt2_related_disorder B3GALNT2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 B3GALNT2-related_disorder 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B2M mondo_mondo_0007099_medgen_c0268389_omim_105200_orphanet_85450 Familial visceral amyloidosis, Ostertag type MONDO:MONDO:0007099,MedGen:C0268389,OMIM:105200,Orphanet:85450 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_visceral_amyloidosis,_Ostertag_type 5 low_record_burden_interpretation_limited low_record_burden_gene AXIN2 mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 2 2 1.0000 condition_record_support_limited 20 0 1 Carcinoma_of_colon 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AXDND1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AURKC condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene ATRX human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 2 Microcephaly 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATRX human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATRX human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATRIP microcephalic_primordial_dwarfism_with_immunodeficiency Microcephalic Primordial Dwarfism with immunodeficiency . 2 2 1.0000 condition_record_support_limited 20 0 1 Microcephalic_Primordial_Dwarfism_with_immunodeficiency 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATRIP mondo_mondo_0019557_medgen_c4551515_orphanet_90280 Chilblain lupus MONDO:MONDO:0019557,MedGen:C4551515,Orphanet:90280 2 2 1.0000 condition_record_support_limited 20 0 2 Chilblain_lupus 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATRIP medgen_c3150315 Aicardi-Goutieres syndrome 1, autosomal dominant MedGen:C3150315 2 2 1.0000 condition_record_support_limited 20 0 2 Aicardi-Goutieres_syndrome_1,_autosomal_dominant 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATR mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATP8B1 familial_intrahepatic_cholestasis_type_1 Familial intrahepatic cholestasis type 1 . 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_intrahepatic_cholestasis_type_1 131 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V1B2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 18 low_record_burden_interpretation_limited low_record_burden_gene ATP6V1B2 mondo_mondo_0007420_medgen_c2675730_omim_124480_orphanet_3231_orphanet_79499 Autosomal dominant deafness - onychodystrophy syndrome MONDO:MONDO:0007420,MedGen:C2675730,OMIM:124480,Orphanet:3231,Orphanet:79499 2 2 1.0000 condition_record_support_limited 20 0 2 Autosomal_dominant_deafness_-_onychodystrophy_syndrome 18 low_record_burden_interpretation_limited low_record_burden_gene ATP6V1B1 human_phenotype_ontology_hp_0000121_mondo_mondo_0001567_medgen_c0027709 Nephrocalcinosis Human_Phenotype_Ontology:HP:0000121,MONDO:MONDO:0001567,MedGen:C0027709 2 2 1.0000 condition_record_support_limited 20 0 2 Nephrocalcinosis 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V1A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V0C human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 1 Seizure 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V0A4 renal_tubulopathies Renal tubulopathies . 2 2 1.0000 condition_record_support_limited 20 0 2 Renal_tubulopathies 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V0A4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP5PO human_phenotype_ontology_hp_0011344_medgen_c1837397 Severe global developmental delay Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 2 2 1.0000 condition_record_support_limited 20 0 2 Severe_global_developmental_delay 3 low_record_burden_interpretation_limited low_record_burden_gene ATP5PO human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 2 Seizure 3 low_record_burden_interpretation_limited low_record_burden_gene ATP5PO human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 2 Microcephaly 3 low_record_burden_interpretation_limited low_record_burden_gene ATP5PO human_phenotype_ontology_hp_0002015_human_phenotype_ontology_hp_0002569_medgen_c0011168 Dysphagia Human_Phenotype_Ontology:HP:0002015,Human_Phenotype_Ontology:HP:0002569,MedGen:C0011168 2 2 1.0000 condition_record_support_limited 20 0 2 Dysphagia 3 low_record_burden_interpretation_limited low_record_burden_gene ATP5F1D mondo_mondo_0020858_medgen_c4748269_omim_618120 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5 MONDO:MONDO:0020858,MedGen:C4748269,OMIM:618120 2 2 1.0000 condition_record_support_limited 20 0 2 Mitochondrial_complex_V_(ATP_synthase)_deficiency,_nuclear_type_5 2 low_record_burden_interpretation_limited low_record_burden_gene ATP5F1A condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene ATP5F1A mondo_mondo_0957254_medgen_c5830480_omim_620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A MONDO:MONDO:0957254,MedGen:C5830480,OMIM:620358 2 2 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_V_(ATP_synthase)_deficiency,_nuclear_type_4A 5 low_record_burden_interpretation_limited low_record_burden_gene ATP5F1A mondo_mondo_0020727_medgen_c4015062_omim_616045 Combined oxidative phosphorylation deficiency 22 MONDO:MONDO:0020727,MedGen:C4015062,OMIM:616045 2 2 1.0000 condition_record_support_limited 20 0 1 Combined_oxidative_phosphorylation_deficiency_22 5 low_record_burden_interpretation_limited low_record_burden_gene ATP2B3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 9 low_record_burden_interpretation_limited low_record_burden_gene ATP2B2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2B2 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 2 2 1.0000 condition_record_support_limited 20 0 1 Epileptic_encephalopathy 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2B2 atp2b2_related_disorder ATP2B2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 ATP2B2-related_disorder 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2B1 human_phenotype_ontology_hp_0032388_mondo_mondo_0020341_mesh_d054091_medgen_c1868720_omim_ps300049_orphanet_98892 Periventricular nodular heterotopia Human_Phenotype_Ontology:HP:0032388,MONDO:MONDO:0020341,MeSH:D054091,MedGen:C1868720,OMIM:PS300049,Orphanet:98892 2 2 1.0000 condition_record_support_limited 20 0 2 Periventricular_nodular_heterotopia 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2B1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_delay 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2B1 human_phenotype_ontology_hp_0000201_mondo_mondo_0009869_medgen_c0031900_omim_261800_orphanet_718 Isolated Pierre-Robin syndrome Human_Phenotype_Ontology:HP:0000201,MONDO:MONDO:0009869,MedGen:C0031900,OMIM:261800,Orphanet:718 2 2 1.0000 condition_record_support_limited 20 0 2 Isolated_Pierre-Robin_syndrome 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2B1 human_phenotype_ontology_hp_0002901_medgen_c0020598 Hypocalcemia Human_Phenotype_Ontology:HP:0002901,MedGen:C0020598 2 2 1.0000 condition_record_support_limited 20 0 2 Hypocalcemia 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2B1 human_phenotype_ontology_hp_0001762_mondo_mondo_0007342_medgen_c0009081_omim_119800_orphanet_199315 Clubfoot Human_Phenotype_Ontology:HP:0001762,MONDO:MONDO:0007342,MedGen:C0009081,OMIM:119800,Orphanet:199315 2 2 1.0000 condition_record_support_limited 20 0 2 Clubfoot 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2A2 medgen_c1852297 Darier disease, segmental MedGen:C1852297 2 2 1.0000 condition_record_support_limited 20 0 1 Darier_disease,_segmental 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2A2 medgen_c1852296 Darier disease, acral hemorrhagic type MedGen:C1852296 2 2 1.0000 condition_record_support_limited 20 0 1 Darier_disease,_acral_hemorrhagic_type 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 2 2 1.0000 condition_record_support_limited 20 0 2 Dystonic_disorder 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 mondo_mondo_0016241_medgen_c0338488_omim_ps104290_orphanet_2131 Alternating hemiplegia of childhood MONDO:MONDO:0016241,MedGen:C0338488,OMIM:PS104290,Orphanet:2131 2 2 1.0000 condition_record_support_limited 20 0 1 Alternating_hemiplegia_of_childhood 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A2 human_phenotype_ontology_hp_0002126_mondo_mondo_0000087_medgen_c0266464_orphanet_35981 Polymicrogyria Human_Phenotype_Ontology:HP:0002126,MONDO:MONDO:0000087,MedGen:C0266464,Orphanet:35981 2 2 1.0000 condition_record_support_limited 20 0 2 Polymicrogyria 134 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP11C mondo_mondo_0060455_medgen_c4746970_omim_301015 X-linked congenital hemolytic anemia MONDO:MONDO:0060455,MedGen:C4746970,OMIM:301015 2 2 1.0000 condition_record_support_limited 20 0 0 X-linked_congenital_hemolytic_anemia 2 low_record_burden_interpretation_limited low_record_burden_gene ATOH1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene ATN1 atn1_related_disorder ATN1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 ATN1-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene ATM human_phenotype_ontology_hp_0002664_human_phenotype_ontology_hp_0003008_human_phenotype_ontology_hp_0006741_mondo_mondo_0005070_mesh_d009369_medgen_c0027651 Neoplasm Human_Phenotype_Ontology:HP:0002664,Human_Phenotype_Ontology:HP:0003008,Human_Phenotype_Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651 2 2 1.0000 condition_record_support_limited 20 0 1 Neoplasm 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM mondo_mondo_0018876_medgen_c4721414_orphanet_52416 Mantle cell lymphoma MONDO:MONDO:0018876,MedGen:C4721414,Orphanet:52416 2 2 1.0000 condition_record_support_limited 20 0 1 Mantle_cell_lymphoma 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM inherited_prostate_cancer Inherited prostate cancer . 2 2 1.0000 condition_record_support_limited 20 0 2 Inherited_prostate_cancer 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM mondo_mondo_0016248_medgen_c5679802 Familial ovarian cancer MONDO:MONDO:0016248,MedGen:C5679802 2 2 1.0000 condition_record_support_limited 20 0 1 Familial_ovarian_cancer 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM medgen_c4017102 Ataxia-telangiectasia without immunodeficiency MedGen:C4017102 2 2 1.0000 condition_record_support_limited 20 0 2 Ataxia-telangiectasia_without_immunodeficiency 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM ataxia_telangiectasi Ataxia telangiectasi . 2 2 1.0000 condition_record_support_limited 20 0 1 Ataxia_telangiectasi 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATL1 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 2 2 1.0000 condition_record_support_limited 20 0 2 Spastic_paraplegia 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATL1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATIC condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene ATF6 human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Bilateral sensorineural hearing impairment Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 2 2 1.0000 condition_record_support_limited 20 0 2 Bilateral_sensorineural_hearing_impairment 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATCAY condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene ATCAY mondo_mondo_0011025_medgen_c1832585_omim_601238_orphanet_94122 Cayman type cerebellar ataxia MONDO:MONDO:0011025,MedGen:C1832585,OMIM:601238,Orphanet:94122 2 2 1.0000 condition_record_support_limited 20 0 0 Cayman_type_cerebellar_ataxia 4 low_record_burden_interpretation_limited low_record_burden_gene ATAD1 mondo_mondo_0044330_medgen_c4693933_omim_618011 Hyperekplexia 4 MONDO:MONDO:0044330,MedGen:C4693933,OMIM:618011 2 2 1.0000 condition_record_support_limited 20 0 2 Hyperekplexia_4 3 low_record_burden_interpretation_limited low_record_burden_gene ASXL3 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 234 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASXL3 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 234 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASXL3 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 234 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASXL1 mondo_mondo_0043195_medgen_c2931052 Rubinstein Taybi like syndrome MONDO:MONDO:0043195,MedGen:C2931052 2 2 1.0000 condition_record_support_limited 20 0 1 Rubinstein_Taybi_like_syndrome 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASS1 medgen_c4016834 Citrullinemia, mild MedGen:C4016834 2 2 1.0000 condition_record_support_limited 20 0 2 Citrullinemia,_mild 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASPM human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 348 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASPM human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 2 2 1.0000 condition_record_support_limited 20 0 2 Fetal_akinesia_deformation_sequence_1 348 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASPM human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 2 2 1.0000 condition_record_support_limited 20 0 2 Arthrogryposis_multiplex_congenita 348 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASPA mondo_mondo_0017831_medgen_c4017127_orphanet_314918 Mild Canavan disease MONDO:MONDO:0017831,MedGen:C4017127,Orphanet:314918 2 2 1.0000 condition_record_support_limited 20 0 2 Mild_Canavan_disease 182 compact_adjacent_exon_block_opportunity local_compact_architecture ASPA aspa_related_disorder ASPA-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 ASPA-related_disorder 182 compact_adjacent_exon_block_opportunity local_compact_architecture ASNS human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASNS asns_related_disorder ASNS-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 ASNS-related_disorder 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASH1L mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 99 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASCC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARX medgen_c1846172 Hydranencephaly with abnormal genitalia MedGen:C1846172 2 2 1.0000 condition_record_support_limited 20 0 0 Hydranencephaly_with_abnormal_genitalia 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARSB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 254 compact_adjacent_exon_block_opportunity local_compact_architecture ARSA medgen_c4017847 METACHROMATIC LEUKODYSTROPHY, MILD MedGen:C4017847 2 2 1.0000 condition_record_support_limited 20 0 2 METACHROMATIC_LEUKODYSTROPHY,_MILD 357 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARSA mondo_mondo_0002561_medgen_c0085078_orphanet_68366 Lysosomal storage disease MONDO:MONDO:0002561,MedGen:C0085078,Orphanet:68366 2 2 1.0000 condition_record_support_limited 20 0 1 Lysosomal_storage_disease 357 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARSA human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 357 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARPC5 mondo_mondo_0957920_medgen_c5882711_omim_620565 Immunodeficiency 113 with autoimmunity and autoinflammation MONDO:MONDO:0957920,MedGen:C5882711,OMIM:620565 2 2 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_113_with_autoimmunity_and_autoinflammation 2 low_record_burden_interpretation_limited low_record_burden_gene ARPC1B human_phenotype_ontology_hp_0005387_mondo_mondo_0015131_medgen_c2711630_orphanet_101972 Combined immunodeficiency Human_Phenotype_Ontology:HP:0005387,MONDO:MONDO:0015131,MedGen:C2711630,Orphanet:101972 2 2 1.0000 condition_record_support_limited 20 0 2 Combined_immunodeficiency 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARMC9 mondo_mondo_0009072_mesh_d003616_medgen_c0010964_omim_220200_orphanet_217 Dandy-Walker syndrome MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217 2 2 1.0000 condition_record_support_limited 20 0 2 Dandy-Walker_syndrome 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARL6IP1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene ARL6 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 2 2 1.0000 condition_record_support_limited 20 0 2 Retinitis_pigmentosa 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARL6 medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 2 2 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_retinitis_pigmentosa 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARL3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene ARL2BP human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 2 2 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 16 low_record_burden_interpretation_limited low_record_burden_gene ARL2BP medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 2 2 1.0000 condition_record_support_limited 20 0 2 Autosomal_recessive_retinitis_pigmentosa 16 low_record_burden_interpretation_limited low_record_burden_gene ARID2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 101 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID2 arid2_related_disorder ARID2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 ARID2-related_disorder 101 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 2 2 1.0000 condition_record_support_limited 20 0 2 Marfanoid_habitus_and_intellectual_disability 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0000998_mondo_mondo_0019280_medgen_c0020555_orphanet_79365 Hypertrichosis Human_Phenotype_Ontology:HP:0000998,MONDO:MONDO:0019280,MedGen:C0020555,Orphanet:79365 2 2 1.0000 condition_record_support_limited 20 0 2 Hypertrichosis 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Corpus callosum, agenesis of Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 2 2 1.0000 condition_record_support_limited 20 0 2 Corpus_callosum,_agenesis_of 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B coffin_siris_intellectual_disability Coffin Siris/Intellectual Disability MedGen:CN185481 2 2 1.0000 condition_record_support_limited 20 0 1 Coffin_Siris/Intellectual_Disability 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 2 2 1.0000 condition_record_support_limited 20 0 2 Autism_spectrum_disorder 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1A human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 141 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1A mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 2 2 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 141 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARHGAP6 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene ARHGAP35 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene ARHGAP29 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene ARFGEF1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 2 Seizure 79 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARF3 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 2 2 1.0000 condition_record_support_limited 20 0 2 Hypotonia 10 low_record_burden_interpretation_limited low_record_burden_gene ARF3 human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 2 2 1.0000 condition_record_support_limited 20 0 2 Dystonic_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene ARF1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene ARCN1 arcn1_related_disorder ARCN1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 ARCN1-related_disorder 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AR mondo_mondo_0971170_medgen_c5935569_omim_301120 Prostate cancer, hereditary, X-linked 3 MONDO:MONDO:0971170,MedGen:C5935569,OMIM:301120 2 2 1.0000 condition_record_support_limited 20 0 2 Prostate_cancer,_hereditary,_X-linked_3 365 compact_adjacent_exon_block_opportunity local_compact_architecture AR mondo_mondo_0002145_medgen_c2930619_orphanet_90771 Disorder of sexual differentiation MONDO:MONDO:0002145,MedGen:C2930619,Orphanet:90771 2 2 1.0000 condition_record_support_limited 20 0 1 Disorder_of_sexual_differentiation 365 compact_adjacent_exon_block_opportunity local_compact_architecture AQP2 aqp2_related_nephrogenic_diabetes_insipidus AQP2-related nephrogenic diabetes insipidus . 2 2 1.0000 condition_record_support_limited 20 0 2 AQP2-related_nephrogenic_diabetes_insipidus 75 compact_adjacent_exon_block_opportunity local_compact_architecture APTX mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APP app_related_disorder APP-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 APP-related_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOE human_phenotype_ontology_hp_0001982_mondo_mondo_0010017_medgen_c0036489_omim_269600_orphanet_158029 Sea-blue histiocyte syndrome Human_Phenotype_Ontology:HP:0001982,MONDO:MONDO:0010017,MedGen:C0036489,OMIM:269600,Orphanet:158029 2 2 1.0000 condition_record_support_limited 20 0 2 Sea-blue_histiocyte_syndrome 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOE cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 2 2 1.0000 condition_record_support_limited 20 0 2 Cardiovascular_phenotype 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOB mondo_mondo_0018328_medgen_c0342881_orphanet_391665 Homozygous familial hypercholesterolemia MONDO:MONDO:0018328,MedGen:C0342881,Orphanet:391665 2 2 1.0000 condition_record_support_limited 20 0 2 Homozygous_familial_hypercholesterolemia 248 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture APOB medgen_c4229399 Early-onset coronary artery disease MedGen:C4229399 2 2 1.0000 condition_record_support_limited 20 0 1 Early-onset_coronary_artery_disease 248 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture APOA4 mondo_mondo_0976234_medgen_c6012701_omim_621106 Tubulointerstitial kidney disease, autosomal dominant 6 MONDO:MONDO:0976234,MedGen:C6012701,OMIM:621106 2 2 1.0000 condition_record_support_limited 20 0 0 Tubulointerstitial_kidney_disease,_autosomal_dominant_6 2 low_record_burden_interpretation_limited low_record_burden_gene APOA2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene APC mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC human_phenotype_ontology_hp_0002884_mondo_mondo_0018666_medgen_c0206624_orphanet_449 Hepatoblastoma Human_Phenotype_Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624,Orphanet:449 2 2 1.0000 condition_record_support_limited 20 0 1 Hepatoblastoma 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC human_phenotype_ontology_hp_6001034_mondo_mondo_0007608_medgen_c0079218_orphanet_873 Desmoid tumor Human_Phenotype_Ontology:HP:6001034,MONDO:MONDO:0007608,MedGen:C0079218,Orphanet:873 2 2 1.0000 condition_record_support_limited 20 0 2 Desmoid_tumor 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC medgen_c2673218 BRAIN TUMOR-POLYPOSIS SYNDROME 2 MedGen:C2673218 2 2 1.0000 condition_record_support_limited 20 0 2 BRAIN_TUMOR-POLYPOSIS_SYNDROME_2 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC human_phenotype_ontology_hp_0005226_human_phenotype_ontology_hp_0005227_medgen_c1868071 Adenomatous colonic polyposis Human_Phenotype_Ontology:HP:0005226,Human_Phenotype_Ontology:HP:0005227,MedGen:C1868071 2 2 1.0000 condition_record_support_limited 20 0 2 Adenomatous_colonic_polyposis 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC mondo_mondo_0016613_medgen_cn276349 APC-related attenuated familial adenomatous polyposis MONDO:MONDO:0016613,MedGen:CN276349 2 2 1.0000 condition_record_support_limited 20 0 2 APC-related_attenuated_familial_adenomatous_polyposis 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APBB1 condition_not_provided condition not provided MedGen:C3661900|MedGen:CN169374 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided|not_specified 2 low_record_burden_interpretation_limited low_record_burden_gene APBB1 mondo_mondo_0001982_medgen_c0028064 Sphingomyelin/cholesterol lipidosis MONDO:MONDO:0001982,MedGen:C0028064 2 2 1.0000 condition_record_support_limited 20 0 2 Sphingomyelin/cholesterol_lipidosis 2 low_record_burden_interpretation_limited low_record_burden_gene APBB1 smpd1_related_disorder SMPD1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 SMPD1-related_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene APBB1 mondo_mondo_0011871_medgen_c0268243_omim_607616_orphanet_77293 Niemann-Pick disease, type B MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293 2 2 1.0000 condition_record_support_limited 20 0 2 Niemann-Pick_disease,_type_B 2 low_record_burden_interpretation_limited low_record_burden_gene APBB1 mondo_mondo_0009756_medgen_c0268242_omim_257200_orphanet_77292 Niemann-Pick disease, type A MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292 2 2 1.0000 condition_record_support_limited 20 0 2 Niemann-Pick_disease,_type_A 2 low_record_burden_interpretation_limited low_record_burden_gene AP5M1 macular_dystrophy_with_or_without_extraocular_features Macular dystrophy with or without extraocular features . 2 2 1.0000 condition_record_support_limited 20 0 0 Macular_dystrophy_with_or_without_extraocular_features 2 low_record_burden_interpretation_limited low_record_burden_gene AP4S1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4S1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4S1 ap4s1_related_disorder AP4S1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 AP4S1-related_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4M1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4M1 ap4m1_related_disorder AP4M1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 AP4M1-related_disorder 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4B1 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_brain_morphology 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4B1 ap4b1_related_disorder AP4B1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 AP4B1-related_disorder 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP3B2 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 2 2 1.0000 condition_record_support_limited 20 0 2 Epileptic_encephalopathy 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP3B1 mondo_mondo_0019312_medgen_c0079504_omim_ps203300_orphanet_79430 Hermansky-Pudlak syndrome MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430 2 2 1.0000 condition_record_support_limited 20 0 1 Hermansky-Pudlak_syndrome 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP1G1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AOPEP mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 2 2 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 191 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AOPEP mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 2 2 1.0000 condition_record_support_limited 20 0 2 Malignant_tumor_of_breast 191 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANXA11 anxa11_related_disorder ANXA11-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 ANXA11-related_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene ANTXR1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene ANO5 human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 2 2 1.0000 condition_record_support_limited 20 0 2 Myopathy 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 12 low_record_burden_interpretation_limited low_record_burden_gene ANO10 mondo_mondo_0010155_medgen_c0268238_omim_275630_orphanet_98907 Triglyceride storage disease with ichthyosis MONDO:MONDO:0010155,MedGen:C0268238,OMIM:275630,Orphanet:98907 2 2 1.0000 condition_record_support_limited 20 0 0 Triglyceride_storage_disease_with_ichthyosis 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO1 mondo_mondo_0958202_medgen_c5882748_omim_620687 Moyamoya disease 7 MONDO:MONDO:0958202,MedGen:C5882748,OMIM:620687 2 2 1.0000 condition_record_support_limited 20 0 0 Moyamoya_disease_7 3 low_record_burden_interpretation_limited low_record_burden_gene ANLN mondo_mondo_0014462_medgen_c4014993_omim_616032_orphanet_656 Focal segmental glomerulosclerosis 8 MONDO:MONDO:0014462,MedGen:C4014993,OMIM:616032,Orphanet:656 2 2 1.0000 condition_record_support_limited 20 0 1 Focal_segmental_glomerulosclerosis_8 2 low_record_burden_interpretation_limited low_record_burden_gene ANKRD36 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 2 2 1.0000 condition_record_support_limited 20 0 0 Hearing_loss,_autosomal_recessive 2 low_record_burden_interpretation_limited low_record_burden_gene ANKRD31 medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 2 2 1.0000 condition_record_support_limited 20 0 0 Genetic_non-acquired_premature_ovarian_failure 3 low_record_burden_interpretation_limited low_record_burden_gene ANKRD11 medgen_c0008073 Developmental disorder MedGen:C0008073 2 2 1.0000 condition_record_support_limited 20 0 2 Developmental_disorder 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 2 2 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANK3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANK2 ank2_associated_disorder ANK2-associated disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 ANK2-associated_disorder 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANK2 ank2_associated_neurodevelopmental_disorder ANK2-associated Neurodevelopmental Disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 ANK2-associated_Neurodevelopmental_Disorder 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANK1 mondo_mondo_0019350_medgen_c0037889_orphanet_822 Hereditary spherocytosis MONDO:MONDO:0019350,MedGen:C0037889,Orphanet:822 2 2 1.0000 condition_record_support_limited 20 0 1 Hereditary_spherocytosis 497 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANGPT2 mondo_mondo_0009617_medgen_c1855081_omim_251200_orphanet_2512 Microcephaly 1, primary, autosomal recessive MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512 2 2 1.0000 condition_record_support_limited 20 0 0 Microcephaly_1,_primary,_autosomal_recessive 4 low_record_burden_interpretation_limited low_record_burden_gene ANGPT2 mondo_mondo_0023662_medgen_c5543531_omim_619369 Lymphatic malformation 10 MONDO:MONDO:0023662,MedGen:C5543531,OMIM:619369 2 2 1.0000 condition_record_support_limited 20 0 0 Lymphatic_malformation_10 4 low_record_burden_interpretation_limited low_record_burden_gene AMPD1 mondo_mondo_0014220_medgen_c3714933_omim_615511_orphanet_45 Muscle AMP deaminase deficiency MONDO:MONDO:0014220,MedGen:C3714933,OMIM:615511,Orphanet:45 2 2 1.0000 condition_record_support_limited 20 0 0 Muscle_AMP_deaminase_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene AMOTL1 amotl1_associated_disorder AMOTL1-associated disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 AMOTL1-associated_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene AMN mondo_mondo_0100156_medgen_c4016819_omim_261100 Imerslund-Grasbeck syndrome type 1 MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100 2 2 1.0000 condition_record_support_limited 20 0 2 Imerslund-Grasbeck_syndrome_type_1 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMH differences_in_sex_development Differences in sex development . 2 2 1.0000 condition_record_support_limited 20 0 2 Differences_in_sex_development 30 compact_adjacent_exon_block_opportunity local_compact_architecture AMELX condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene AMD1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene AMACR condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene AMACR mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 4 low_record_burden_interpretation_limited low_record_burden_gene AMACR mondo_mondo_0008967_medgen_c1858328_omim_214950_orphanet_79095 Congenital bile acid synthesis defect 4 MONDO:MONDO:0008967,MedGen:C1858328,OMIM:214950,Orphanet:79095 2 2 1.0000 condition_record_support_limited 20 0 1 Congenital_bile_acid_synthesis_defect_4 4 low_record_burden_interpretation_limited low_record_burden_gene ALS2 human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 2 2 1.0000 condition_record_support_limited 20 0 1 Tip-toe_gait 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALS2 human_phenotype_ontology_hp_0011442_medgen_c4023354 Abnormal central motor function Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 2 2 1.0000 condition_record_support_limited 20 0 1 Abnormal_central_motor_function 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALPL mondo_mondo_0016605_medgen_c2673477_orphanet_247623 Perinatal lethal hypophosphatasia MONDO:MONDO:0016605,MedGen:C2673477,Orphanet:247623 2 2 1.0000 condition_record_support_limited 20 0 2 Perinatal_lethal_hypophosphatasia 532 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALPL mondo_mondo_0100609_medgen_cn379221 ALPL-related autosomal recessive hypophosphatasia MONDO:MONDO:0100609,MedGen:CN379221 2 2 1.0000 condition_record_support_limited 20 0 2 ALPL-related_autosomal_recessive_hypophosphatasia 532 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALPK3 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_disorder 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0000955_human_phenotype_ontology_hp_0007547_human_phenotype_ontology_hp_0008064_mondo_mondo_0019269_medgen_c0020757_orphanet_79354 Ichthyosis Human_Phenotype_Ontology:HP:0000955,Human_Phenotype_Ontology:HP:0007547,Human_Phenotype_Ontology:HP:0008064,MONDO:MONDO:0019269,MedGen:C0020757,Orphanet:79354 2 2 1.0000 condition_record_support_limited 20 0 1 Ichthyosis 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 mondo_mondo_0017265_medgen_c1274215_omim_ps242300_orphanet_281097 Autosomal recessive congenital ichthyosis MONDO:MONDO:0017265,MedGen:C1274215,OMIM:PS242300,Orphanet:281097 2 2 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_congenital_ichthyosis 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOX12B alox12b_related_disorder ALOX12B-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 ALOX12B-related_disorder 150 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALMS1 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 999 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALMS1 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 2 2 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy 999 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALKBH8 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene ALK mondo_mondo_0008903_medgen_c0242379_omim_211980 Lung cancer MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 2 2 1.0000 condition_record_support_limited 20 0 0 Lung_cancer 19 low_record_burden_interpretation_limited low_record_burden_gene ALG9 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG9 mondo_mondo_0008263_medgen_c3149841_omim_173900 Polycystic kidney disease, adult type MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900 2 2 1.0000 condition_record_support_limited 20 0 1 Polycystic_kidney_disease,_adult_type 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG2 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene ALG13 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 1 Seizure 11 low_record_burden_interpretation_limited low_record_burden_gene ALG13 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 2 Neurodevelopmental_delay 11 low_record_burden_interpretation_limited low_record_burden_gene ALG13 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 2 2 1.0000 condition_record_support_limited 20 0 1 Microcephaly 11 low_record_burden_interpretation_limited low_record_burden_gene ALG13 mondo_mondo_0015286_medgen_c0282577_orphanet_137 Congenital disorder of glycosylation MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137 2 2 1.0000 condition_record_support_limited 20 0 1 Congenital_disorder_of_glycosylation 11 low_record_burden_interpretation_limited low_record_burden_gene ALG11 alg11_related_disorder ALG11-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 ALG11-related_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene ALG1 human_phenotype_ontology_hp_0001298_medgen_c0085584 Encephalopathy Human_Phenotype_Ontology:HP:0001298,MedGen:C0085584 2 2 1.0000 condition_record_support_limited 20 0 2 Encephalopathy 120 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH7A1 human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Ventriculomegaly Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 2 2 1.0000 condition_record_support_limited 20 0 2 Ventriculomegaly 184 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH7A1 mondo_mondo_0020741_medgen_cn293409 Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant MONDO:MONDO:0020741,MedGen:CN293409 2 2 1.0000 condition_record_support_limited 20 0 2 Pyridoxine-dependent_epilepsy_caused_by_ALDH7A1_mutant 184 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH1A3 human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Microphthalmia Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 2 2 1.0000 condition_record_support_limited 20 0 1 Microphthalmia 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH18A1 mondo_mondo_0100126_medgen_cn294786 P5CS deficiency MONDO:MONDO:0100126,MedGen:CN294786 2 2 1.0000 condition_record_support_limited 20 0 2 P5CS_deficiency 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALB mondo_mondo_0014448_medgen_c0342185_omim_615999 Hyperthyroxinemia, familial dysalbuminemic MONDO:MONDO:0014448,MedGen:C0342185,OMIM:615999 2 2 1.0000 condition_record_support_limited 20 0 0 Hyperthyroxinemia,_familial_dysalbuminemic 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALB alloalbuminemia Alloalbuminemia MedGen:CN220290 2 2 1.0000 condition_record_support_limited 20 0 0 Alloalbuminemia 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALAD condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene AKT2 human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Type 2 diabetes mellitus Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 2 2 1.0000 condition_record_support_limited 20 0 2 Type_2_diabetes_mellitus 2 low_record_burden_interpretation_limited low_record_burden_gene AKT1 mondo_mondo_0008318_medgen_c0085261_omim_176920_orphanet_744 Proteus syndrome MONDO:MONDO:0008318,MedGen:C0085261,OMIM:176920,Orphanet:744 2 2 1.0000 condition_record_support_limited 20 0 1 Proteus_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene AKR1D1 akr1d1_related_disorder AKR1D1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 AKR1D1-related_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AKAP9 mondo_mondo_0012738_medgen_c2678483_omim_611820_orphanet_101016_orphanet_768 Long QT syndrome 11 MONDO:MONDO:0012738,MedGen:C2678483,OMIM:611820,Orphanet:101016,Orphanet:768 2 2 1.0000 condition_record_support_limited 20 0 0 Long_QT_syndrome_11 4 low_record_burden_interpretation_limited low_record_burden_gene AKAP9 mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 2 2 1.0000 condition_record_support_limited 20 0 0 Long_QT_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene AKAP3 mondo_mondo_0957249_medgen_c5830468_omim_620353 Spermatogenic failure 82 MONDO:MONDO:0957249,MedGen:C5830468,OMIM:620353 2 2 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_82 2 low_record_burden_interpretation_limited low_record_burden_gene AK1 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene AIRE human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_disorder 227 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIRE mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 227 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIRE medgen_c2749602 Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia MedGen:C2749602 2 2 1.0000 condition_record_support_limited 20 0 2 Autoimmune_polyglandular_syndrome_type_1,_with_reversible_metaphyseal_dysplasia 227 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIP medgen_c1863340 Pituitary adenoma predisposition MedGen:C1863340 2 2 1.0000 condition_record_support_limited 20 0 2 Pituitary_adenoma_predisposition 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIP mondo_mondo_0017824_medgen_c2676191_omim_ps102200_orphanet_314777 Familial isolated pituitary adenoma MONDO:MONDO:0017824,MedGen:C2676191,OMIM:PS102200,Orphanet:314777 2 2 1.0000 condition_record_support_limited 20 0 1 Familial_isolated_pituitary_adenoma 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIFM1 medgen_c2732267 Auditory neuropathy spectrum disorder MedGen:C2732267 2 2 1.0000 condition_record_support_limited 20 0 0 Auditory_neuropathy_spectrum_disorder 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AICDA aicda_related_disorder AICDA-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 AICDA-related_disorder 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHI1 human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Nephronophthisis Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 2 2 1.0000 condition_record_support_limited 20 0 2 Nephronophthisis 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHI1 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 2 2 1.0000 condition_record_support_limited 20 0 1 Leber_congenital_amaurosis 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHI1 ahi1_related_disorder AHI1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 AHI1-related_disorder 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHDC1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 2 2 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHCY condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene AGXT human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 2 2 1.0000 condition_record_support_limited 20 0 1 Nephrotic_syndrome 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGTPBP1 agtpbp1_related_disorder AGTPBP1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 AGTPBP1-related_disorder 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGT mondo_mondo_0007781_medgen_cn305331_omim_145500 Essential hypertension, genetic MONDO:MONDO:0007781,MedGen:CN305331,OMIM:145500 2 2 1.0000 condition_record_support_limited 20 0 2 Essential_hypertension,_genetic 17 low_record_burden_interpretation_limited low_record_burden_gene AGRN mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AGRN mondo_mondo_0008824_medgen_cn263240_omim_ps208150 Fetal akinesia deformation sequence MONDO:MONDO:0008824,MedGen:CN263240,OMIM:PS208150 2 2 1.0000 condition_record_support_limited 20 0 0 Fetal_akinesia_deformation_sequence 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AGR2 respiratory_ciliopathies_including_non_cf_bronchiectasis Respiratory ciliopathies including non-CF bronchiectasis . 2 2 1.0000 condition_record_support_limited 20 0 0 Respiratory_ciliopathies_including_non-CF_bronchiectasis 8 low_record_burden_interpretation_limited low_record_burden_gene AGPS mondo_mondo_0015776_medgen_c0282529_omim_ps215100_orphanet_177 Rhizomelic chondrodysplasia punctata MONDO:MONDO:0015776,MedGen:C0282529,OMIM:PS215100,Orphanet:177 2 2 1.0000 condition_record_support_limited 20 0 1 Rhizomelic_chondrodysplasia_punctata 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGPAT2 human_phenotype_ontology_hp_0009059_mondo_mondo_0006536_medgen_c0221032_omim_ps608594 Congenital generalized lipodystrophy Human_Phenotype_Ontology:HP:0009059,MONDO:MONDO:0006536,MedGen:C0221032,OMIM:PS608594 2 2 1.0000 condition_record_support_limited 20 0 1 Congenital_generalized_lipodystrophy 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGPAT2 agpat2_related_disorder AGPAT2-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 AGPAT2-related_disorder 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGO2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 17 low_record_burden_interpretation_limited low_record_burden_gene AGK agk_related_disorder AGK-related disorder MedGen:CN239194 2 2 1.0000 condition_record_support_limited 20 0 2 AGK-related_disorder 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGA human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFP medgen_c1863081_omim_615969_orphanet_168612 Alpha-fetoprotein deficiency MedGen:C1863081,OMIM:615969,Orphanet:168612 2 2 1.0000 condition_record_support_limited 20 0 0 Alpha-fetoprotein_deficiency 3 low_record_burden_interpretation_limited low_record_burden_gene AFG2B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 21 compact_adjacent_exon_block_opportunity local_compact_architecture AFG2B afg2b_related_disorder AFG2B-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 AFG2B-related_disorder 21 compact_adjacent_exon_block_opportunity local_compact_architecture AFG2A mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 2 2 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFG2A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFG2A afg2a_related_disorder AFG2A-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 AFG2A-related_disorder 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFF4 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene ADSL human_phenotype_ontology_hp_0011344_medgen_c1837397 Severe global developmental delay Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 2 2 1.0000 condition_record_support_limited 20 0 2 Severe_global_developmental_delay 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADSL human_phenotype_ontology_hp_0002344_medgen_c1854838 Progressive neurologic deterioration Human_Phenotype_Ontology:HP:0002344,MedGen:C1854838 2 2 1.0000 condition_record_support_limited 20 0 2 Progressive_neurologic_deterioration 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADSL human_phenotype_ontology_hp_0002540_medgen_c0560046 Inability to walk Human_Phenotype_Ontology:HP:0002540,MedGen:C0560046 2 2 1.0000 condition_record_support_limited 20 0 2 Inability_to_walk 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADSL human_phenotype_ontology_hp_0002123_human_phenotype_ontology_hp_0006869_human_phenotype_ontology_hp_0006902_human_phenotype_ontology_hp_0007075_human_phenotype_ontology_hp_0007202_human_phenotype_ontology_hp_0007284_human_phenotype_ontology_hp_0007294_medgen_c4021759 Generalized myoclonic seizure Human_Phenotype_Ontology:HP:0002123,Human_Phenotype_Ontology:HP:0006869,Human_Phenotype_Ontology:HP:0006902,Human_Phenotype_Ontology:HP:0007075,Human_Phenotype_Ontology:HP:0007202,Human_Phenotype_Ontology:HP:0007284,Human_Phenotype_Ontology:HP:0007294,MedGen:C4021759 2 2 1.0000 condition_record_support_limited 20 0 2 Generalized_myoclonic_seizure 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADSL human_phenotype_ontology_hp_0003698_medgen_c0241237 Difficulty standing Human_Phenotype_Ontology:HP:0003698,MedGen:C0241237 2 2 1.0000 condition_record_support_limited 20 0 2 Difficulty_standing 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADNP human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 2 2 1.0000 condition_record_support_limited 20 0 2 Global_developmental_delay 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADK condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene ADIPOQ medgen_c2675517_omim_612556 Adiponectin deficiency MedGen:C2675517,OMIM:612556 2 2 1.0000 condition_record_support_limited 20 0 0 Adiponectin_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene ADGRV1 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_disorder 650 large_gene_or_donor_burden_stress_case donor_burden_stress ADGRV1 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 2 2 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 650 large_gene_or_donor_burden_stress_case donor_burden_stress ADGRL1 human_phenotype_ontology_hp_0001328_human_phenotype_ontology_hp_0007234_mondo_mondo_0016225_medgen_c4025790_orphanet_211047 Specific learning disability Human_Phenotype_Ontology:HP:0001328,Human_Phenotype_Ontology:HP:0007234,MONDO:MONDO:0016225,MedGen:C4025790,Orphanet:211047 2 2 1.0000 condition_record_support_limited 20 0 2 Specific_learning_disability 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRL1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 2 2 1.0000 condition_record_support_limited 20 0 2 Seizure 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRG1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRB3 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 2 2 1.0000 condition_record_support_limited 20 0 0 Short_stature 2 low_record_burden_interpretation_limited low_record_burden_gene ADCY5 adcy5_related_disorder ADCY5-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 ADCY5-related_disorder 57 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture ADAT3 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 2 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene ADAR adar_related_disorder ADAR-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 ADAR-related_disorder 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTSL4 mondo_mondo_0015998_medgen_c1851286_orphanet_1885 Isolated ectopia lentis MONDO:MONDO:0015998,MedGen:C1851286,Orphanet:1885 2 2 1.0000 condition_record_support_limited 20 0 1 Isolated_ectopia_lentis 166 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTS19 adamts19_related_disorder ADAMTS19-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 ADAMTS19-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene ADAMTS18 adamts18_related_disorder ADAMTS18-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 ADAMTS18-related_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADA2 mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 2 2 1.0000 condition_record_support_limited 20 0 2 Inherited_Immunodeficiency_Diseases 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADA scid_due_to_ada_deficiency_delayed_onset SCID due to ADA deficiency, delayed onset MedGen:CN042911 2 2 1.0000 condition_record_support_limited 20 0 2 SCID_due_to_ADA_deficiency,_delayed_onset 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACY1 acy1_related_disorder ACY1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 ACY1-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene ACVR2B mondo_mondo_0013403_medgen_c3151057_omim_613751_orphanet_450 Heterotaxy, visceral, 4, autosomal MONDO:MONDO:0013403,MedGen:C3151057,OMIM:613751,Orphanet:450 2 2 1.0000 condition_record_support_limited 20 0 0 Heterotaxy,_visceral,_4,_autosomal 2 low_record_burden_interpretation_limited low_record_burden_gene ACVR1B mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 Carcinoma of pancreas MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 2 2 1.0000 condition_record_support_limited 20 0 0 Carcinoma_of_pancreas 3 low_record_burden_interpretation_limited low_record_burden_gene ACVR1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 10 low_record_burden_interpretation_limited low_record_burden_gene ACTN4 actn4_related_disorder ACTN4-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 0 ACTN4-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene ACTN2 mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 Primary familial hypertrophic cardiomyopathy MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 2 2 1.0000 condition_record_support_limited 20 0 2 Primary_familial_hypertrophic_cardiomyopathy 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTN2 mondo_mondo_0032852_medgen_c5231445_omim_618654 Myopathy, congenital, with structured cores and z-line abnormalities MONDO:MONDO:0032852,MedGen:C5231445,OMIM:618654 2 2 1.0000 condition_record_support_limited 20 0 0 Myopathy,_congenital,_with_structured_cores_and_z-line_abnormalities 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTN2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 2 2 1.0000 condition_record_support_limited 20 0 2 Cardiovascular_phenotype 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTN1 actn1_related_disorder ACTN1-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 ACTN1-related_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTL6B human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 2 2 1.0000 condition_record_support_limited 20 0 2 Intellectual_disability 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTL6B actl6b_related_bafopathy ACTL6B-related BAFopathy . 2 2 1.0000 condition_record_support_limited 20 0 1 ACTL6B-related_BAFopathy 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTG2 mondo_mondo_0012317_medgen_c1864996_omim_609629_orphanet_2978 Visceral neuropathy, familial, 3, autosomal dominant MONDO:MONDO:0012317,MedGen:C1864996,OMIM:609629,Orphanet:2978 2 2 1.0000 condition_record_support_limited 20 0 2 Visceral_neuropathy,_familial,_3,_autosomal_dominant 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTG2 human_phenotype_ontology_hp_0000021_human_phenotype_ontology_hp_0002838_medgen_c1855311 Megacystis Human_Phenotype_Ontology:HP:0000021,Human_Phenotype_Ontology:HP:0002838,MedGen:C1855311 2 2 1.0000 condition_record_support_limited 20 0 2 Megacystis 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTG1 human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Lissencephaly Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 2 2 1.0000 condition_record_support_limited 20 0 2 Lissencephaly 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTC1 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 2 2 1.0000 condition_record_support_limited 20 0 2 Hypertrophic_cardiomyopathy 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTC1 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 2 2 1.0000 condition_record_support_limited 20 0 2 Cardiomyopathy 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 mondo_mondo_0800341_medgen_cn178536_omim_255310 Congenital myopathy 4A, autosomal dominant MONDO:MONDO:0800341,MedGen:CN178536,OMIM:255310 2 2 1.0000 condition_record_support_limited 20 0 1 Congenital_myopathy_4A,_autosomal_dominant 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACSF3 acsf3_related_disorder ACSF3-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 ACSF3-related_disorder 186 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACP5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 2 Inborn_genetic_diseases 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACP5 acp5_related_disorder ACP5-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 ACP5-related_disorder 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACP4 condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 1 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene ACKR1 duffy_blood_group_system_fy_a_b_phenotype DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE . 2 2 1.0000 condition_record_support_limited 20 0 1 DUFFY_BLOOD_GROUP_SYSTEM,_FY(a-b-)_PHENOTYPE 2 low_record_burden_interpretation_limited low_record_burden_gene ACBD6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 15 low_record_burden_interpretation_limited low_record_burden_gene ACAT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 212 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACAN human_phenotype_ontology_hp_0002655_human_phenotype_ontology_hp_0002776_human_phenotype_ontology_hp_0005893_mondo_mondo_0016761_medgen_c0038015_orphanet_253 Spondyloepiphyseal dysplasia Human_Phenotype_Ontology:HP:0002655,Human_Phenotype_Ontology:HP:0002776,Human_Phenotype_Ontology:HP:0005893,MONDO:MONDO:0016761,MedGen:C0038015,Orphanet:253 2 2 1.0000 condition_record_support_limited 20 0 0 Spondyloepiphyseal_dysplasia 203 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ACADVL human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 2 2 1.0000 condition_record_support_limited 20 0 2 Myopathy 513 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACADVL human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_musculature 513 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACADVL human_phenotype_ontology_hp_0011021_medgen_c4023591 Abnormal circulating enzyme concentration Human_Phenotype_Ontology:HP:0011021,MedGen:C4023591 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_circulating_enzyme_concentration 513 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACADM human_phenotype_ontology_hp_0011097_medgen_c1527366 Epileptic spasm Human_Phenotype_Ontology:HP:0011097,MedGen:C1527366 2 2 1.0000 condition_record_support_limited 20 0 2 Epileptic_spasm 370 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACAD9 acad9_related_disorder ACAD9-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 ACAD9-related_disorder 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACAD8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACAD8 acad8_related_disorder ACAD8-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 1 ACAD8-related_disorder 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACACA mondo_mondo_0013493_medgen_c0268603_omim_613933 Acetyl-CoA: carboxylase deficiency MONDO:MONDO:0013493,MedGen:C0268603,OMIM:613933 2 2 1.0000 condition_record_support_limited 20 0 0 Acetyl-CoA:_carboxylase_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene ABL1 mondo_mondo_0023644_medgen_c0220641 Lip and oral cavity carcinoma MONDO:MONDO:0023644,MedGen:C0220641 2 2 1.0000 condition_record_support_limited 20 0 0 Lip_and_oral_cavity_carcinoma 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABL1 human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 2 2 1.0000 condition_record_support_limited 20 0 2 Failure_to_thrive 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABL1 mondo_mondo_0005453_medgen_c0152021 Congenital heart disease MONDO:MONDO:0005453,MedGen:C0152021 2 2 1.0000 condition_record_support_limited 20 0 2 Congenital_heart_disease 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABL1 human_phenotype_ontology_hp_0011842_medgen_c4023165 Abnormal skeletal morphology Human_Phenotype_Ontology:HP:0011842,MedGen:C4023165 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormal_skeletal_morphology 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABHD16A mondo_mondo_0015150_medgen_c0393556_orphanet_102013 Complex hereditary spastic paraplegia MONDO:MONDO:0015150,MedGen:C0393556,Orphanet:102013 2 2 1.0000 condition_record_support_limited 20 0 2 Complex_hereditary_spastic_paraplegia 7 low_record_burden_interpretation_limited low_record_burden_gene ABCG8 medgen_c4229399 Early-onset coronary artery disease MedGen:C4229399 2 2 1.0000 condition_record_support_limited 20 0 2 Early-onset_coronary_artery_disease 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCG5 mondo_mondo_0020747_medgen_c2749759_omim_210250 Sitosterolemia 1 MONDO:MONDO:0020747,MedGen:C2749759,OMIM:210250 2 2 1.0000 condition_record_support_limited 20 0 2 Sitosterolemia_1 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCG5 abcg5_related_disorder ABCG5-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 ABCG5-related_disorder 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCD1 mondo_mondo_0010248_medgen_c1848097_omim_300106_orphanet_93349 X-linked spondyloepimetaphyseal dysplasia MONDO:MONDO:0010248,MedGen:C1848097,OMIM:300106,Orphanet:93349 2 2 1.0000 condition_record_support_limited 20 0 2 X-linked_spondyloepimetaphyseal_dysplasia 512 compact_adjacent_exon_block_opportunity local_compact_architecture ABCD1 mondo_mondo_0015129_medgen_c0001403_omim_240200_orphanet_101959 Primary adrenocortical insufficiency MONDO:MONDO:0015129,MedGen:C0001403,OMIM:240200,Orphanet:101959 2 2 1.0000 condition_record_support_limited 20 0 1 Primary_adrenocortical_insufficiency 512 compact_adjacent_exon_block_opportunity local_compact_architecture ABCC9 mondo_mondo_0859224_medgen_c5676904_omim_619719 Intellectual disability and myopathy syndrome MONDO:MONDO:0859224,MedGen:C5676904,OMIM:619719 2 2 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability_and_myopathy_syndrome 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 mondo_mondo_0978299_medgen_c6012723_omim_621196 Maturity-onset diabetes of the young, type 12 MONDO:MONDO:0978299,MedGen:C6012723,OMIM:621196 2 2 1.0000 condition_record_support_limited 20 0 2 Maturity-onset_diabetes_of_the_young,_type_12 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC6 mondo_mondo_0024308_medgen_c0033847 Pseudoxanthoma elasticum MONDO:MONDO:0024308,MedGen:C0033847 2 2 1.0000 condition_record_support_limited 20 0 2 Pseudoxanthoma_elasticum 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC6 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 2 2 1.0000 condition_record_support_limited 20 0 2 Abnormality_of_the_eye 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 2 2 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB6 mondo_mondo_0012204_medgen_c1836705_omim_609153_orphanet_90044 Familial pseudohyperkalemia MONDO:MONDO:0012204,MedGen:C1836705,OMIM:609153,Orphanet:90044 2 2 1.0000 condition_record_support_limited 20 0 1 Familial_pseudohyperkalemia 10 low_record_burden_interpretation_limited low_record_burden_gene ABCB4 familial_intrahepatic_cholestasis_type_3 Familial intrahepatic cholestasis type 3 . 2 2 1.0000 condition_record_support_limited 20 0 2 Familial_intrahepatic_cholestasis_type_3 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB1 mondo_mondo_0975801_medgen_c5975397_omim_620950 Encephalopathy, acute transient MONDO:MONDO:0975801,MedGen:C5975397,OMIM:620950 2 2 1.0000 condition_record_support_limited 20 0 0 Encephalopathy,_acute_transient 4 low_record_burden_interpretation_limited low_record_burden_gene ABCA4 medgen_c1858080 Retinal dystrophy, early-onset severe MedGen:C1858080 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_dystrophy,_early-onset_severe 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 human_phenotype_ontology_hp_0001105_medgen_c0521694 Retinal atrophy Human_Phenotype_Ontology:HP:0001105,MedGen:C0521694 2 2 1.0000 condition_record_support_limited 20 0 2 Retinal_atrophy 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 medgen_c0271092 Progressive cone dystrophy (without rod involvement) MedGen:C0271092 2 2 1.0000 condition_record_support_limited 20 0 2 Progressive_cone_dystrophy_(without_rod_involvement) 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 macular_degeneration_age_related_2_susceptibility_to MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO . 2 2 1.0000 condition_record_support_limited 20 0 2 MACULAR_DEGENERATION,_AGE-RELATED,_2,_SUSCEPTIBILITY_TO 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 2 2 1.0000 condition_record_support_limited 20 0 2 Leber_congenital_amaurosis 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Congenital stationary night blindness Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 2 2 1.0000 condition_record_support_limited 20 0 1 Congenital_stationary_night_blindness 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 human_phenotype_ontology_hp_0000603_medgen_c0152191 Central scotoma Human_Phenotype_Ontology:HP:0000603,MedGen:C0152191 2 2 1.0000 condition_record_support_limited 20 0 2 Central_scotoma 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 mondo_mondo_0007934_medgen_c5561925_omim_153870_orphanet_251287 Benign concentric annular macular dystrophy MONDO:MONDO:0007934,MedGen:C5561925,OMIM:153870,Orphanet:251287 2 2 1.0000 condition_record_support_limited 20 0 2 Benign_concentric_annular_macular_dystrophy 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA3 medgen_c4721507 Diffuse interstitial pulmonary fibrosis MedGen:C4721507 2 2 1.0000 condition_record_support_limited 20 0 2 Diffuse_interstitial_pulmonary_fibrosis 135 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ABCA13 intellectual_disability_without_epilepsy Intellectual disability without epilepsy . 2 2 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability_without_epilepsy 4 low_record_burden_interpretation_limited low_record_burden_gene ABCA12 abca12_related_disorder ABCA12-related disorder . 2 2 1.0000 condition_record_support_limited 20 0 2 ABCA12-related_disorder 206 large_gene_or_donor_burden_stress_case donor_burden_stress ABAT condition_not_provided condition not provided MedGen:C3661900 2 2 1.0000 condition_record_support_limited 20 2 0 not_provided 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AARS2 human_phenotype_ontology_hp_0002089_mondo_mondo_0800133_medgen_c0265783 Pulmonary hypoplasia Human_Phenotype_Ontology:HP:0002089,MONDO:MONDO:0800133,MedGen:C0265783 2 2 1.0000 condition_record_support_limited 20 0 2 Pulmonary_hypoplasia 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AARS1 mondo_mondo_0030634_medgen_c5562044_omim_619661 Leukoencephalopathy, hereditary diffuse, with spheroids 2 MONDO:MONDO:0030634,MedGen:C5562044,OMIM:619661 2 2 1.0000 condition_record_support_limited 20 0 1 Leukoencephalopathy,_hereditary_diffuse,_with_spheroids_2 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AARS1 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 2 2 1.0000 condition_record_support_limited 20 0 2 Charcot-Marie-Tooth_disease 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AAAS mondo_mondo_0800195_medgen_cn322649 Achalasia-alacrima syndrome MONDO:MONDO:0800195,MedGen:CN322649 2 2 1.0000 condition_record_support_limited 20 0 1 Achalasia-alacrima_syndrome 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZYG11B mondo_mondo_0958175_medgen_c3495417_omim_164210_orphanet_374 Craniofacial microsomia 1 MONDO:MONDO:0958175,MedGen:C3495417,OMIM:164210,Orphanet:374 1 1 1.0000 condition_record_support_limited 20 0 0 Craniofacial_microsomia_1 1 low_record_burden_interpretation_limited low_record_burden_gene ZUP1 mondo_mondo_0012978_medgen_c2675229_omim_612649_orphanet_244 Primary ciliary dyskinesia 11 MONDO:MONDO:0012978,MedGen:C2675229,OMIM:612649,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_ciliary_dyskinesia_11 1 low_record_burden_interpretation_limited low_record_burden_gene ZSWIM7 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 1.0000 condition_record_support_limited 20 0 1 Non-obstructive_azoospermia 4 low_record_burden_interpretation_limited low_record_burden_gene ZSWIM7 human_phenotype_ontology_hp_0000789_mondo_mondo_0005047_medgen_c0021359 Infertility disorder Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359 1 1 1.0000 condition_record_support_limited 20 0 0 Infertility_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene ZSWIM6 zswim6_related_disorder ZSWIM6-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ZSWIM6-related_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene ZSWIM6 zswim6_related_intellectual_disability ZSWIM6 related intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 1 ZSWIM6_related_intellectual_disability 5 low_record_burden_interpretation_limited low_record_burden_gene ZSWIM6 mondo_mondo_0011359_medgen_c1863616_omim_603671_orphanet_1827 Acromelic frontonasal dysostosis MONDO:MONDO:0011359,MedGen:C1863616,OMIM:603671,Orphanet:1827 1 1 1.0000 condition_record_support_limited 20 0 1 Acromelic_frontonasal_dysostosis 5 low_record_burden_interpretation_limited low_record_burden_gene ZRSR2 zrsr2_related_disorder ZRSR2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ZRSR2-related_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene ZRSR2 human_phenotype_ontology_hp_0006882_medgen_c3278123 Severe hydrocephalus Human_Phenotype_Ontology:HP:0006882,MedGen:C3278123 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_hydrocephalus 6 low_record_burden_interpretation_limited low_record_burden_gene ZRSR2 human_phenotype_ontology_hp_0008501_human_phenotype_ontology_hp_0009089_medgen_c2750604 Median cleft lip and palate Human_Phenotype_Ontology:HP:0008501,Human_Phenotype_Ontology:HP:0009089,MedGen:C2750604 1 1 1.0000 condition_record_support_limited 20 0 1 Median_cleft_lip_and_palate 6 low_record_burden_interpretation_limited low_record_burden_gene ZRSR2 human_phenotype_ontology_hp_0001360_human_phenotype_ontology_hp_0009807_mondo_mondo_0016296_medgen_c0079541_omim_ps236100_orphanet_2162 Holoprosencephaly sequence Human_Phenotype_Ontology:HP:0001360,Human_Phenotype_Ontology:HP:0009807,MONDO:MONDO:0016296,MedGen:C0079541,OMIM:PS236100,Orphanet:2162 1 1 1.0000 condition_record_support_limited 20 0 1 Holoprosencephaly_sequence 6 low_record_burden_interpretation_limited low_record_burden_gene ZRSR2 human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 1.0000 condition_record_support_limited 20 0 1 Heart,_malformation_of 6 low_record_burden_interpretation_limited low_record_burden_gene ZPR1 mondo_mondo_0007788_medgen_c5444012_omim_145750 Hypertriglyceridemia 1 MONDO:MONDO:0007788,MedGen:C5444012,OMIM:145750 1 1 1.0000 condition_record_support_limited 20 0 0 Hypertriglyceridemia_1 2 low_record_burden_interpretation_limited low_record_burden_gene ZPR1 mondo_mondo_0859146_medgen_c5543375_omim_619321 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies MONDO:MONDO:0859146,MedGen:C5543375,OMIM:619321 1 1 1.0000 condition_record_support_limited 20 0 0 Growth_restriction,_hypoplastic_kidneys,_alopecia,_and_distinctive_facies 2 low_record_burden_interpretation_limited low_record_burden_gene ZPBP mondo_mondo_0030716_medgen_c5676945_omim_619799 Spermatogenic failure 66 MONDO:MONDO:0030716,MedGen:C5676945,OMIM:619799 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_66 1 low_record_burden_interpretation_limited low_record_burden_gene ZP3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene ZP3 human_phenotype_ontology_hp_0031067_medgen_c4476946 Empty ovarian follicle Human_Phenotype_Ontology:HP:0031067,MedGen:C4476946 1 1 1.0000 condition_record_support_limited 20 0 0 Empty_ovarian_follicle 5 low_record_burden_interpretation_limited low_record_burden_gene ZP3 medgen_c1328577 Empty follicle syndrome MedGen:C1328577 1 1 1.0000 condition_record_support_limited 20 0 1 Empty_follicle_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene ZP2 mondo_mondo_0012812_medgen_c2677326_omim_612164_orphanet_1934_orphanet_33069_orphanet_599373 Developmental and epileptic encephalopathy, 4 MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164,Orphanet:1934,Orphanet:33069,Orphanet:599373 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_4 8 low_record_burden_interpretation_limited low_record_burden_gene ZP1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene ZP1 mondo_mondo_0021574_medgen_c4540205_omim_617712 Oocyte maturation defect 3 MONDO:MONDO:0021574,MedGen:C4540205,OMIM:617712 1 1 1.0000 condition_record_support_limited 20 0 0 Oocyte_maturation_defect_3 13 low_record_burden_interpretation_limited low_record_burden_gene ZNFX1 znfx1_related_disorder ZNFX1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ZNFX1-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene ZNF862 human_phenotype_ontology_hp_0000169_medgen_c0016049 Gingival fibromatosis Human_Phenotype_Ontology:HP:0000169,MedGen:C0016049 1 1 1.0000 condition_record_support_limited 20 0 1 Gingival_fibromatosis 1 low_record_burden_interpretation_limited low_record_burden_gene ZNF862 mondo_mondo_0975841_medgen_c5975501_omim_620999 Fibromatosis, gingival, 6 MONDO:MONDO:0975841,MedGen:C5975501,OMIM:620999 1 1 1.0000 condition_record_support_limited 20 0 1 Fibromatosis,_gingival,_6 1 low_record_burden_interpretation_limited low_record_burden_gene ZNF808 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 1 See_cases 8 low_record_burden_interpretation_limited low_record_burden_gene ZNF808 mondo_mondo_0060640_medgen_c4693390_omim_617862 Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy MONDO:MONDO:0060640,MedGen:C4693390,OMIM:617862 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_microcephaly,_epilepsy,_and_brain_atrophy 8 low_record_burden_interpretation_limited low_record_burden_gene ZNF766 mondo_mondo_0020739_medgen_cn031131_omim_143880_orphanet_300547 Hypercalcemia, infantile, 1 MONDO:MONDO:0020739,MedGen:CN031131,OMIM:143880,Orphanet:300547 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercalcemia,_infantile,_1 1 low_record_burden_interpretation_limited low_record_burden_gene ZNF750 mondo_mondo_0012446_medgen_c1853258_omim_610227_orphanet_168606 Seborrhea-like dermatitis with psoriasiform elements MONDO:MONDO:0012446,MedGen:C1853258,OMIM:610227,Orphanet:168606 1 1 1.0000 condition_record_support_limited 20 0 0 Seborrhea-like_dermatitis_with_psoriasiform_elements 1 low_record_burden_interpretation_limited low_record_burden_gene ZNF717 susceptibility_to_severe_coronavirus_disease_covid_19 Susceptibility to severe coronavirus disease (COVID-19) . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_coronavirus_disease_(COVID-19) 1 low_record_burden_interpretation_limited low_record_burden_gene ZNF711 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 16 low_record_burden_interpretation_limited low_record_burden_gene ZNF699 znf699_related_disorder ZNF699-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ZNF699-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene ZNF687 mondo_mondo_0014792_medgen_c4085250_omim_616833 Paget disease of bone 6 MONDO:MONDO:0014792,MedGen:C4085250,OMIM:616833 1 1 1.0000 condition_record_support_limited 20 0 0 Paget_disease_of_bone_6 1 low_record_burden_interpretation_limited low_record_burden_gene ZNF668 human_phenotype_ontology_hp_0008890_medgen_c1860105 Severe short-limb dwarfism Human_Phenotype_Ontology:HP:0008890,MedGen:C1860105 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_short-limb_dwarfism 3 low_record_burden_interpretation_limited low_record_burden_gene ZNF668 neurodevelopmental_disorder_with_poor_growth Neurodevelopmental disorder with poor growth . 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_poor_growth 3 low_record_burden_interpretation_limited low_record_burden_gene ZNF564 mondo_mondo_0009561_medgen_c0024748_omim_248500_orphanet_61 Deficiency of alpha-mannosidase MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500,Orphanet:61 1 1 1.0000 condition_record_support_limited 20 0 0 Deficiency_of_alpha-mannosidase 1 low_record_burden_interpretation_limited low_record_burden_gene ZNF526 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene ZNF526 human_phenotype_ontology_hp_0001642_mondo_mondo_0009938_medgen_c1956257_omim_265500_orphanet_3189 Pulmonic stenosis Human_Phenotype_Ontology:HP:0001642,MONDO:MONDO:0009938,MedGen:C1956257,OMIM:265500,Orphanet:3189 1 1 1.0000 condition_record_support_limited 20 0 1 Pulmonic_stenosis 4 low_record_burden_interpretation_limited low_record_burden_gene ZNF526 noonan_like_facies Noonan-like facies MedGen:CN228297 1 1 1.0000 condition_record_support_limited 20 0 1 Noonan-like_facies 4 low_record_burden_interpretation_limited low_record_burden_gene ZNF526 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 4 low_record_burden_interpretation_limited low_record_burden_gene ZNF513 mondo_mondo_0013328_medgen_c3150879_omim_613617_orphanet_791 Retinitis pigmentosa 58 MONDO:MONDO:0013328,MedGen:C3150879,OMIM:613617,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa_58 2 low_record_burden_interpretation_limited low_record_burden_gene ZNF513 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 2 low_record_burden_interpretation_limited low_record_burden_gene ZNF496 neurodevelopmental_disorders Neurodevelopmental disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorders 1 low_record_burden_interpretation_limited low_record_burden_gene ZNF469 mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 Ehlers-Danlos syndrome MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 1 1 1.0000 condition_record_support_limited 20 0 0 Ehlers-Danlos_syndrome 197 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZNF462 mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 84 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZNF454 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 1 Leber_congenital_amaurosis 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF454 grm6_related_disorder GRM6-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GRM6-related_disorder 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF454 mondo_mondo_0013183_medgen_c2750747_omim_613216_orphanet_215 Congenital stationary night blindness 1C MONDO:MONDO:0013183,MedGen:C2750747,OMIM:613216,Orphanet:215 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_stationary_night_blindness_1C 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF446 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene ZNF423 condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene ZNF423 znf423_related_disorder ZNF423-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ZNF423-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene ZNF423 mondo_mondo_0013916_medgen_c3539071_omim_614844_orphanet_2318 Nephronophthisis 14 MONDO:MONDO:0013916,MedGen:C3539071,OMIM:614844,Orphanet:2318 1 1 1.0000 condition_record_support_limited 20 0 1 Nephronophthisis_14 4 low_record_burden_interpretation_limited low_record_burden_gene ZNF418 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 1 low_record_burden_interpretation_limited low_record_burden_gene ZNF408 mondo_mondo_0019516_mesh_d000080345_medgen_c0339539_omim_ps133780_orphanet_891 Familial exudative vitreoretinopathy MONDO:MONDO:0019516,MeSH:D000080345,MedGen:C0339539,OMIM:PS133780,Orphanet:891 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_exudative_vitreoretinopathy 13 low_record_burden_interpretation_limited low_record_burden_gene ZNF408 medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_retinitis_pigmentosa 13 low_record_burden_interpretation_limited low_record_burden_gene ZNF407 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 2 low_record_burden_interpretation_limited low_record_burden_gene ZNF341 mondo_mondo_0007818_medgen_c2936739_omim_147060_orphanet_2314 Hyper-IgE recurrent infection syndrome 1, autosomal dominant MONDO:MONDO:0007818,MedGen:C2936739,OMIM:147060,Orphanet:2314 1 1 1.0000 condition_record_support_limited 20 0 0 Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF335 znf335_related_disorder ZNF335-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ZNF335-related_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF292 znf292_related_neurodevelopmental_condition ZNF292-related neurodevelopmental condition . 1 1 1.0000 condition_record_support_limited 20 0 1 ZNF292-related_neurodevelopmental_condition 99 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZNF292 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 99 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZNF292 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 99 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZNF292 human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Motor delay Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 1.0000 condition_record_support_limited 20 0 1 Motor_delay 99 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZNF292 human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Mild intellectual disability Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 1 1 1.0000 condition_record_support_limited 20 0 1 Mild_intellectual_disability 99 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZNF292 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 99 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZNF292 mondo_mondo_0015802_medgen_c5680502_orphanet_178469 Autosomal dominant non-syndromic intellectual disability MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_non-syndromic_intellectual_disability 99 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZNF276 human_phenotype_ontology_hp_0003006_human_phenotype_ontology_hp_0006738_mondo_mondo_0005072_mesh_d009447_medgen_c0027819_orphanet_635 Neuroblastoma Human_Phenotype_Ontology:HP:0003006,Human_Phenotype_Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635 1 1 1.0000 condition_record_support_limited 20 0 1 Neuroblastoma 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF148 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZNF142 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 43 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZNF142 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 43 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZNF141 mondo_mondo_0014090_medgen_c3808889_omim_615226 Polydactyly, postaxial, type A6 MONDO:MONDO:0014090,MedGen:C3808889,OMIM:615226 1 1 1.0000 condition_record_support_limited 20 0 0 Polydactyly,_postaxial,_type_A6 1 low_record_burden_interpretation_limited low_record_burden_gene ZMYND8 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene ZMYND8 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 4 low_record_burden_interpretation_limited low_record_burden_gene ZMYND15 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 1.0000 condition_record_support_limited 20 0 0 Non-obstructive_azoospermia 8 low_record_burden_interpretation_limited low_record_burden_gene ZMYND11 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZMYND11 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZMYND11 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZMYND10 mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 Kartagener syndrome MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 1 Kartagener_syndrome 35 compact_adjacent_exon_block_opportunity local_compact_architecture ZMYM3 human_phenotype_ontology_hp_0001319_human_phenotype_ontology_hp_0008976_medgen_c2267233 Neonatal hypotonia Human_Phenotype_Ontology:HP:0001319,Human_Phenotype_Ontology:HP:0008976,MedGen:C2267233 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_hypotonia 12 low_record_burden_interpretation_limited low_record_burden_gene ZMYM3 human_phenotype_ontology_hp_0001265_human_phenotype_ontology_hp_0002467_medgen_c0700078 Hyporeflexia Human_Phenotype_Ontology:HP:0001265,Human_Phenotype_Ontology:HP:0002467,MedGen:C0700078 1 1 1.0000 condition_record_support_limited 20 0 1 Hyporeflexia 12 low_record_burden_interpretation_limited low_record_burden_gene ZMYM3 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 12 low_record_burden_interpretation_limited low_record_burden_gene ZMYM3 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 12 low_record_burden_interpretation_limited low_record_burden_gene ZMYM2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZMYM2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZMYM2 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZMPSTE24 autosomal_recessive_zmpste24_related_disorders Autosomal recessive ZMPSTE24-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_ZMPSTE24-related_disorders 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZMIZ1 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZMIZ1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZIC3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 41 compact_adjacent_exon_block_opportunity local_compact_architecture ZIC3 mondo_mondo_0800321_medgen_c3151867 Congenital heart defects, multiple types, 1, X-linked MONDO:MONDO:0800321,MedGen:C3151867 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_heart_defects,_multiple_types,_1,_X-linked 41 compact_adjacent_exon_block_opportunity local_compact_architecture ZIC2 zic2_related_disorder ZIC2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ZIC2-related_disorder 51 compact_adjacent_exon_block_opportunity local_compact_architecture ZIC2 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 51 compact_adjacent_exon_block_opportunity local_compact_architecture ZIC2 human_phenotype_ontology_hp_0001360_human_phenotype_ontology_hp_0009807_mondo_mondo_0016296_medgen_c0079541_omim_ps236100_orphanet_2162 Holoprosencephaly sequence Human_Phenotype_Ontology:HP:0001360,Human_Phenotype_Ontology:HP:0009807,MONDO:MONDO:0016296,MedGen:C0079541,OMIM:PS236100,Orphanet:2162 1 1 1.0000 condition_record_support_limited 20 0 1 Holoprosencephaly_sequence 51 compact_adjacent_exon_block_opportunity local_compact_architecture ZIC2 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 51 compact_adjacent_exon_block_opportunity local_compact_architecture ZFYVE26 zfyve26_related_disorder ZFYVE26-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ZFYVE26-related_disorder 454 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZFYVE26 human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 1.0000 condition_record_support_limited 20 0 0 Tip-toe_gait 454 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZFYVE26 mondo_mondo_0800348_medgen_c3150208 Retinitis pigmentosa 53 MONDO:MONDO:0800348,MedGen:C3150208 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa_53 454 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZFYVE26 human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 1.0000 condition_record_support_limited 20 0 1 Macular_dystrophy 454 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZFYVE26 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 454 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZFYVE26 mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 Congenital myopathy MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myopathy 454 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZFYVE26 human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Atypical behavior Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 1 1 1.0000 condition_record_support_limited 20 0 1 Atypical_behavior 454 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZFYVE19 zfyve19_related_disorder ZFYVE19-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ZFYVE19-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene ZFYVE16 human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Cerebral arteriovenous malformation Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_arteriovenous_malformation 1 low_record_burden_interpretation_limited low_record_burden_gene ZFP57 zfp57_related_disorder ZFP57-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ZFP57-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene ZFP30 cerebral_visual_impairment_and_intellectual_disability Cerebral visual impairment and intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_visual_impairment_and_intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene ZFHX4 zfhx4_associated_neurodevelopmental_disorder ZFHX4-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ZFHX4-associated_neurodevelopmental_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene ZFHX4 autosomal_dominant_zfhx4_related_disorders Autosomal dominant ZFHX4-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_ZFHX4-related_disorders 12 low_record_burden_interpretation_limited low_record_burden_gene ZFHX3 zfhx3_associated_neurodevelopmental_disorder ZFHX3-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ZFHX3-associated_neurodevelopmental_disorder 38 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZFHX3 zfhx3_associated_disorder ZFHX3-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ZFHX3-associated_disorder 38 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZFHX3 mondo_mondo_0000508_medgen_c5680525_orphanet_183763 Syndromic intellectual disability MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 1.0000 condition_record_support_limited 20 0 0 Syndromic_intellectual_disability 38 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZFHX3 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 38 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZFHX3 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 38 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZFHX3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 38 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ZFHX2 medgen_c4538468_omim_147430 Indifference to pain, congenital, autosomal dominant MedGen:C4538468,OMIM:147430 1 1 1.0000 condition_record_support_limited 20 0 0 Indifference_to_pain,_congenital,_autosomal_dominant 1 low_record_burden_interpretation_limited low_record_burden_gene ZEB2 smith_magenis_syndrome_like Smith-Magenis Syndrome-like . 1 1 1.0000 condition_record_support_limited 20 0 0 Smith-Magenis_Syndrome-like 389 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZEB2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 389 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZEB2 human_phenotype_ontology_hp_6000852_mondo_mondo_0001273_medgen_c0025160 Megacolon Human_Phenotype_Ontology:HP:6000852,MONDO:MONDO:0001273,MedGen:C0025160 1 1 1.0000 condition_record_support_limited 20 0 0 Megacolon 389 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZEB2 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 389 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZEB2 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 389 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZEB1 human_phenotype_ontology_hp_0000572_medgen_c3665386 Visual loss Human_Phenotype_Ontology:HP:0000572,MedGen:C3665386 1 1 1.0000 condition_record_support_limited 20 0 1 Visual_loss 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZEB1 gene_8197_mondo_mondo_0007378_medgen_c1852555_omim_122000_orphanet_98973 Posterior polymorphous corneal dystrophy 1 Gene:8197,MONDO:MONDO:0007378,MedGen:C1852555,OMIM:122000,Orphanet:98973 1 1 1.0000 condition_record_support_limited 20 0 0 Posterior_polymorphous_corneal_dystrophy_1 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZEB1 human_phenotype_ontology_hp_0000501_mondo_mondo_0005041_medgen_c0017601 Glaucoma Human_Phenotype_Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601 1 1 1.0000 condition_record_support_limited 20 0 1 Glaucoma 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZDHHC24 mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 Usher syndrome MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 1 1 1.0000 condition_record_support_limited 20 0 1 Usher_syndrome 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZDHHC24 mondo_mondo_0009549_mesh_d000080362_medgen_c1855465_omim_248200_orphanet_364055_orphanet_827 Severe early-childhood-onset retinal dystrophy MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_early-childhood-onset_retinal_dystrophy 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZDHHC24 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZDHHC16 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 2 low_record_burden_interpretation_limited low_record_burden_gene ZDHHC15 human_phenotype_ontology_hp_0001264_medgen_c0023882 Spastic diplegia Human_Phenotype_Ontology:HP:0001264,MedGen:C0023882 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_diplegia 1 low_record_burden_interpretation_limited low_record_burden_gene ZCCHC8 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene ZCCHC8 mondo_mondo_0032865_medgen_c5231457_omim_618674 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 MONDO:MONDO:0032865,MedGen:C5231457,OMIM:618674 1 1 1.0000 condition_record_support_limited 20 0 1 Pulmonary_fibrosis_and/or_bone_marrow_failure,_telomere-related,_5 4 low_record_burden_interpretation_limited low_record_burden_gene ZCCHC8 mondo_mondo_0001713_medgen_c5681331_orphanet_68383 Inherited aplastic anemia MONDO:MONDO:0001713,MedGen:C5681331,Orphanet:68383 1 1 1.0000 condition_record_support_limited 20 0 0 Inherited_aplastic_anemia 4 low_record_burden_interpretation_limited low_record_burden_gene ZCCHC8 mondo_mondo_0017893_medgen_c4707228_orphanet_319465 Inherited acute myeloid leukemia MONDO:MONDO:0017893,MedGen:C4707228,Orphanet:319465 1 1 1.0000 condition_record_support_limited 20 0 0 Inherited_acute_myeloid_leukemia 4 low_record_burden_interpretation_limited low_record_burden_gene ZCCHC8 mondo_mondo_0015780_medgen_c0265965_omim_ps127550_orphanet_1775 Dyskeratosis congenita MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775 1 1 1.0000 condition_record_support_limited 20 0 0 Dyskeratosis_congenita 4 low_record_burden_interpretation_limited low_record_burden_gene ZC4H2 zc4h2_related_disorder ZC4H2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ZC4H2-related_disorder 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZC4H2 zc4h2_related_x_linked_intellectual_disability ZC4H2-related X-linked intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 1 ZC4H2-related_X-linked_intellectual_disability 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZC4H2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB9 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 1 low_record_burden_interpretation_limited low_record_burden_gene ZBTB7A human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB47 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene ZBTB25 mondo_mondo_0060611_medgen_c4540434_omim_617780_orphanet_658813 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia MONDO:MONDO:0060611,MedGen:C4540434,OMIM:617780,Orphanet:658813 1 1 1.0000 condition_record_support_limited 20 0 0 Combined_immunodeficiency_and_megaloblastic_anemia_with_or_without_hyperhomocysteinemia 7 low_record_burden_interpretation_limited low_record_burden_gene ZBTB20 mondo_mondo_0010026_medgen_c0878684_omim_269880_orphanet_3163 SHORT syndrome MONDO:MONDO:0010026,MedGen:C0878684,OMIM:269880,Orphanet:3163 1 1 1.0000 condition_record_support_limited 20 0 1 SHORT_syndrome 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB20 human_phenotype_ontology_hp_0011343_medgen_c2237142 Moderate global developmental delay Human_Phenotype_Ontology:HP:0011343,MedGen:C2237142 1 1 1.0000 condition_record_support_limited 20 0 1 Moderate_global_developmental_delay 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB20 marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 1 1 1.0000 condition_record_support_limited 20 0 1 Marfanoid_habitus_and_intellectual_disability 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB20 human_phenotype_ontology_hp_0001158_human_phenotype_ontology_hp_0001588_human_phenotype_ontology_hp_0004209_human_phenotype_ontology_hp_0004212_human_phenotype_ontology_hp_0006083_human_phenotype_ontology_hp_0006181_human_phenotype_ontology_hp_0009181_medgen_c1850049 Clinodactyly of the 5th finger Human_Phenotype_Ontology:HP:0001158,Human_Phenotype_Ontology:HP:0001588,Human_Phenotype_Ontology:HP:0004209,Human_Phenotype_Ontology:HP:0004212,Human_Phenotype_Ontology:HP:0006083,Human_Phenotype_Ontology:HP:0006181,Human_Phenotype_Ontology:HP:0009181,MedGen:C1850049 1 1 1.0000 condition_record_support_limited 20 0 1 Clinodactyly_of_the_5th_finger 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB20 human_phenotype_ontology_hp_0011918_medgen_c4020740 Clinodactyly of the 4th toe Human_Phenotype_Ontology:HP:0011918,MedGen:C4020740 1 1 1.0000 condition_record_support_limited 20 0 1 Clinodactyly_of_the_4th_toe 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB20 human_phenotype_ontology_hp_0000729_medgen_c0856975 Autistic behavior Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 1.0000 condition_record_support_limited 20 0 1 Autistic_behavior 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB20 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB18 zbtb18_related_intellectual_disability ZBTB18-related intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 0 ZBTB18-related_intellectual_disability 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB18 zbtb18_related_disorder ZBTB18-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ZBTB18-related_disorder 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB18 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB18 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB18 marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 1 1 1.0000 condition_record_support_limited 20 0 1 Marfanoid_habitus_and_intellectual_disability 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBTB18 medgen_c0424605 Developmental delay MedGen:C0424605 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_delay 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ZBED4 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene ZAR1L mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_breast_ovarian_cancer_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene ZAR1L mondo_mondo_0012933_medgen_c2675520_omim_612555_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 2 MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 1 Breast-ovarian_cancer,_familial,_susceptibility_to,_2 1 low_record_burden_interpretation_limited low_record_burden_gene ZAP70 zap70_related_disorder ZAP70-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ZAP70-related_disorder 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YY1AP1 yy1ap1_related_disorder YY1AP1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 YY1AP1-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene YY1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YY1 mondo_mondo_0032812_medgen_c5231409_omim_618557 Developmental and epileptic encephalopathy, 78 MONDO:MONDO:0032812,MedGen:C5231409,OMIM:618557 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_78 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YWHAZ condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene YWHAZ cardiofaciocutaneous_spectrum_disorder Cardiofaciocutaneous spectrum disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 Cardiofaciocutaneous_spectrum_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene YWHAG human_phenotype_ontology_hp_0001328_human_phenotype_ontology_hp_0007234_mondo_mondo_0016225_medgen_c4025790_orphanet_211047 Specific learning disability Human_Phenotype_Ontology:HP:0001328,Human_Phenotype_Ontology:HP:0007234,MONDO:MONDO:0016225,MedGen:C4025790,Orphanet:211047 1 1 1.0000 condition_record_support_limited 20 0 1 Specific_learning_disability 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YWHAG human_phenotype_ontology_hp_0001257_medgen_c0026838 Spasticity Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 1 1 1.0000 condition_record_support_limited 20 0 1 Spasticity 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YWHAG human_phenotype_ontology_hp_0011344_medgen_c1837397 Severe global developmental delay Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_global_developmental_delay 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YWHAG human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YWHAG human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YWHAG human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YWHAG human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YWHAG human_phenotype_ontology_hp_0002019_human_phenotype_ontology_hp_0002241_human_phenotype_ontology_hp_0003786_mondo_mondo_0002203_medgen_c0009806 Constipation Human_Phenotype_Ontology:HP:0002019,Human_Phenotype_Ontology:HP:0002241,Human_Phenotype_Ontology:HP:0003786,MONDO:MONDO:0002203,MedGen:C0009806 1 1 1.0000 condition_record_support_limited 20 0 1 Constipation 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YWHAG human_phenotype_ontology_hp_0001306_human_phenotype_ontology_hp_0002069_human_phenotype_ontology_hp_0002407_human_phenotype_ontology_hp_0007252_medgen_c0494475 Bilateral tonic-clonic seizure Human_Phenotype_Ontology:HP:0001306,Human_Phenotype_Ontology:HP:0002069,Human_Phenotype_Ontology:HP:0002407,Human_Phenotype_Ontology:HP:0007252,MedGen:C0494475 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_tonic-clonic_seizure 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture YWHAE ywhae_associated_disorder YWHAE-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 YWHAE-associated_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene YRDC condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene YPEL3 ypel3_related_condition YPEL3-related condition . 1 1 1.0000 condition_record_support_limited 20 0 0 YPEL3-related_condition 1 low_record_burden_interpretation_limited low_record_burden_gene YME1L1 mondo_mondo_0015011_medgen_c4310628_omim_617302 Optic atrophy 11 MONDO:MONDO:0015011,MedGen:C4310628,OMIM:617302 1 1 1.0000 condition_record_support_limited 20 0 0 Optic_atrophy_11 2 low_record_burden_interpretation_limited low_record_burden_gene YME1L1 human_phenotype_ontology_hp_0003535_mondo_mondo_0017359_medgen_c3696376_omim_ps250950_orphanet_289902 3-Methylglutaconic aciduria Human_Phenotype_Ontology:HP:0003535,MONDO:MONDO:0017359,MedGen:C3696376,OMIM:PS250950,Orphanet:289902 1 1 1.0000 condition_record_support_limited 20 0 0 3-Methylglutaconic_aciduria 2 low_record_burden_interpretation_limited low_record_burden_gene YIF1B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 9 low_record_burden_interpretation_limited low_record_burden_gene YARS1 recessive_ars_related_multisystem_disease recessive ARS-related multisystem disease . 1 1 1.0000 condition_record_support_limited 20 0 1 recessive_ARS-related_multisystem_disease 15 low_record_burden_interpretation_limited low_record_burden_gene YARS1 human_phenotype_ontology_hp_0012714_medgen_c3874334 Severe hearing impairment Human_Phenotype_Ontology:HP:0012714,MedGen:C3874334 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_hearing_impairment 15 low_record_burden_interpretation_limited low_record_burden_gene YARS1 human_phenotype_ontology_hp_0000546_human_phenotype_ontology_hp_0007632_human_phenotype_ontology_hp_0007863_mondo_mondo_0004580_mesh_d012162_medgen_c0035304 Retinal degeneration Human_Phenotype_Ontology:HP:0000546,Human_Phenotype_Ontology:HP:0007632,Human_Phenotype_Ontology:HP:0007863,MONDO:MONDO:0004580,MeSH:D012162,MedGen:C0035304 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_degeneration 15 low_record_burden_interpretation_limited low_record_burden_gene YARS1 human_phenotype_ontology_hp_0000786_mondo_mondo_1060208_medgen_c0232939 Primary amenorrhea Human_Phenotype_Ontology:HP:0000786,MONDO:MONDO:1060208,MedGen:C0232939 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_amenorrhea 15 low_record_burden_interpretation_limited low_record_burden_gene YARS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 15 low_record_burden_interpretation_limited low_record_burden_gene YARS1 human_phenotype_ontology_hp_0001397_human_phenotype_ontology_hp_0002252_human_phenotype_ontology_hp_0200121_mondo_mondo_0004790_medgen_c2711227 Hepatic steatosis Human_Phenotype_Ontology:HP:0001397,Human_Phenotype_Ontology:HP:0002252,Human_Phenotype_Ontology:HP:0200121,MONDO:MONDO:0004790,MedGen:C2711227 1 1 1.0000 condition_record_support_limited 20 0 1 Hepatic_steatosis 15 low_record_burden_interpretation_limited low_record_burden_gene YARS1 human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Corpus callosum, agenesis of Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 1.0000 condition_record_support_limited 20 0 1 Corpus_callosum,_agenesis_of 15 low_record_burden_interpretation_limited low_record_burden_gene YAP1 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 5 low_record_burden_interpretation_limited low_record_burden_gene YAP1 human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Congenital ocular coloboma Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_ocular_coloboma 5 low_record_burden_interpretation_limited low_record_burden_gene XYLT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 23 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture XRCC4 mondo_mondo_0009876_medgen_c0342573_omim_262400_orphanet_231662_orphanet_631 Ateleiotic dwarfism MONDO:MONDO:0009876,MedGen:C0342573,OMIM:262400,Orphanet:231662,Orphanet:631 1 1 1.0000 condition_record_support_limited 20 0 1 Ateleiotic_dwarfism 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XRCC2 human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 1 1 1.0000 condition_record_support_limited 20 0 0 Breast_carcinoma 16 low_record_burden_interpretation_limited low_record_burden_gene XRCC1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene XPNPEP3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene XPC mondo_mondo_0010210_medgen_c0268135_omim_278700_orphanet_910 Xeroderma pigmentosum group A MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700,Orphanet:910 1 1 1.0000 condition_record_support_limited 20 0 0 Xeroderma_pigmentosum_group_A 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XPC mondo_mondo_0019600_medgen_c0043346_omim_ps278700_orphanet_910 Xeroderma pigmentosum MONDO:MONDO:0019600,MedGen:C0043346,OMIM:PS278700,Orphanet:910 1 1 1.0000 condition_record_support_limited 20 0 1 Xeroderma_pigmentosum 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XPC mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XPC mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_cancer-predisposing_syndrome 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XPC mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 Familial prostate cancer MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_prostate_cancer 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XPA xpa_related_disorder XPA-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 XPA-related_disorder 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XKR7 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 1 low_record_burden_interpretation_limited low_record_burden_gene XK xk_related_disorder XK-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 XK-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene XK mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 14 low_record_burden_interpretation_limited low_record_burden_gene XK human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Elevated circulating creatine kinase concentration Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 1 1 1.0000 condition_record_support_limited 20 0 0 Elevated_circulating_creatine_kinase_concentration 14 low_record_burden_interpretation_limited low_record_burden_gene XIST condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene XIST mondo_mondo_0026404_medgen_c1848138_omim_300087 X inactivation, familial skewed, 1 MONDO:MONDO:0026404,MedGen:C1848138,OMIM:300087 1 1 1.0000 condition_record_support_limited 20 0 1 X_inactivation,_familial_skewed,_1 1 low_record_burden_interpretation_limited low_record_burden_gene XIAP mondo_mondo_0020721_medgen_c4551511_omim_300751_orphanet_75563 X-linked sideroblastic anemia 1 MONDO:MONDO:0020721,MedGen:C4551511,OMIM:300751,Orphanet:75563 1 1 1.0000 condition_record_support_limited 20 0 0 X-linked_sideroblastic_anemia_1 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XIAP human_phenotype_ontology_hp_0100806_medgen_c0036690 Sepsis Human_Phenotype_Ontology:HP:0100806,MedGen:C0036690 1 1 1.0000 condition_record_support_limited 20 0 1 Sepsis 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XIAP human_phenotype_ontology_hp_0002719_human_phenotype_ontology_hp_0002957_human_phenotype_ontology_hp_0002964_human_phenotype_ontology_hp_0005405_medgen_c0239998 Recurrent infections Human_Phenotype_Ontology:HP:0002719,Human_Phenotype_Ontology:HP:0002957,Human_Phenotype_Ontology:HP:0002964,Human_Phenotype_Ontology:HP:0005405,MedGen:C0239998 1 1 1.0000 condition_record_support_limited 20 0 1 Recurrent_infections 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XIAP mondo_mondo_0014054_medgen_c3554540_omim_615122_orphanet_238505 Lymphoproliferative syndrome 2 MONDO:MONDO:0014054,MedGen:C3554540,OMIM:615122,Orphanet:238505 1 1 1.0000 condition_record_support_limited 20 0 0 Lymphoproliferative_syndrome_2 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XIAP mondo_mondo_0019751_medgen_c3890737_orphanet_93665 Autoinflammatory syndrome MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 1 1 1.0000 condition_record_support_limited 20 0 0 Autoinflammatory_syndrome 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture XDH condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WWP2 mondo_mondo_0032835_medgen_c4305147_omim_618618 Spondyloepiphyseal dysplasia, nishimura type MONDO:MONDO:0032835,MedGen:C4305147,OMIM:618618 1 1 1.0000 condition_record_support_limited 20 0 1 Spondyloepiphyseal_dysplasia,_nishimura_type 1 low_record_burden_interpretation_limited low_record_burden_gene WWP2 spondyloepiphyseal_dysplasia_mir140_type_nishimura Spondyloepiphyseal dysplasia MIR140 type Nishimura . 1 1 1.0000 condition_record_support_limited 20 0 1 Spondyloepiphyseal_dysplasia_MIR140_type_Nishimura 1 low_record_burden_interpretation_limited low_record_burden_gene WWOX mondo_mondo_0018097_medgen_c0037769_orphanet_3451_orphanet_697160 West syndrome MONDO:MONDO:0018097,MedGen:C0037769,Orphanet:3451,Orphanet:697160 1 1 1.0000 condition_record_support_limited 20 0 1 West_syndrome 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WWOX wwox_related_diosrder WWOX-related diosrder . 1 1 1.0000 condition_record_support_limited 20 0 1 WWOX-related_diosrder 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WWOX neurodevelopmental_disorders Neurodevelopmental disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorders 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WWOX mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WWOX human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WWOX mondo_mondo_0005580_mesh_d000077277_medgen_c0279626_orphanet_99977 Esophageal squamous cell carcinoma MONDO:MONDO:0005580,MeSH:D000077277,MedGen:C0279626,Orphanet:99977 1 1 1.0000 condition_record_support_limited 20 0 1 Esophageal_squamous_cell_carcinoma 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WWOX medgen_c0424605 Developmental delay MedGen:C0424605 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_delay 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WWOX human_phenotype_ontology_hp_0012444_medgen_c4551584 Brain atrophy Human_Phenotype_Ontology:HP:0012444,MedGen:C4551584 1 1 1.0000 condition_record_support_limited 20 0 1 Brain_atrophy 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WWOX human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WT1 human_phenotype_ontology_hp_0012588_mondo_mondo_0044765_medgen_c0403397 Steroid-resistant nephrotic syndrome Human_Phenotype_Ontology:HP:0012588,MONDO:MONDO:0044765,MedGen:C0403397 1 1 1.0000 condition_record_support_limited 20 0 1 Steroid-resistant_nephrotic_syndrome 153 compact_adjacent_exon_block_opportunity local_compact_architecture WT1 mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 153 compact_adjacent_exon_block_opportunity local_compact_architecture WT1 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 153 compact_adjacent_exon_block_opportunity local_compact_architecture WT1 human_phenotype_ontology_hp_0000115_human_phenotype_ontology_hp_0002667_mondo_mondo_0006058_mesh_d009396_medgen_c0027708_orphanet_654 Nephroblastoma Human_Phenotype_Ontology:HP:0000115,Human_Phenotype_Ontology:HP:0002667,MONDO:MONDO:0006058,MeSH:D009396,MedGen:C0027708,Orphanet:654 1 1 1.0000 condition_record_support_limited 20 0 0 Nephroblastoma 153 compact_adjacent_exon_block_opportunity local_compact_architecture WT1 mondo_mondo_0005065_medgen_c0025500 Mesothelioma MONDO:MONDO:0005065,MedGen:C0025500 1 1 1.0000 condition_record_support_limited 20 0 0 Mesothelioma 153 compact_adjacent_exon_block_opportunity local_compact_architecture WT1 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 153 compact_adjacent_exon_block_opportunity local_compact_architecture WT1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_cancer-predisposing_syndrome 153 compact_adjacent_exon_block_opportunity local_compact_architecture WT1 human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 1.0000 condition_record_support_limited 20 0 1 Focal_segmental_glomerulosclerosis 153 compact_adjacent_exon_block_opportunity local_compact_architecture WSB2 luo_agrawal_neurodevelopmental_syndrome LUO-AGRAWAL NEURODEVELOPMENTAL SYNDROME MedGen:CN381043,OMIM:621552 1 1 1.0000 condition_record_support_limited 20 0 0 LUO-AGRAWAL_NEURODEVELOPMENTAL_SYNDROME 1 low_record_burden_interpretation_limited low_record_burden_gene WRN human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Type 2 diabetes mellitus Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 1 1 1.0000 condition_record_support_limited 20 0 1 Type_2_diabetes_mellitus 421 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WRN human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 421 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WRN medgen_c4013572 Progressive pulmonary failure MedGen:C4013572 1 1 1.0000 condition_record_support_limited 20 0 0 Progressive_pulmonary_failure 421 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WRN mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 421 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WRN human_phenotype_ontology_hp_0002885_mondo_mondo_0007959_mesh_d008527_medgen_c0025149_omim_155255_orphanet_616 Medulloblastoma Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616 1 1 1.0000 condition_record_support_limited 20 0 1 Medulloblastoma 421 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WRN human_phenotype_ontology_hp_0000298_medgen_c0424448 Mask-like facies Human_Phenotype_Ontology:HP:0000298,MedGen:C0424448 1 1 1.0000 condition_record_support_limited 20 0 1 Mask-like_facies 421 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WRN human_phenotype_ontology_hp_0001823_human_phenotype_ontology_hp_0001826_human_phenotype_ontology_hp_0004325_medgen_c5574742 Decreased body weight Human_Phenotype_Ontology:HP:0001823,Human_Phenotype_Ontology:HP:0001826,Human_Phenotype_Ontology:HP:0004325,MedGen:C5574742 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_body_weight 421 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WRN human_phenotype_ontology_hp_0000444_human_phenotype_ontology_hp_0003683_medgen_c0240538 Convex nasal ridge Human_Phenotype_Ontology:HP:0000444,Human_Phenotype_Ontology:HP:0003683,MedGen:C0240538 1 1 1.0000 condition_record_support_limited 20 0 1 Convex_nasal_ridge 421 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WRN human_phenotype_ontology_hp_0000518_mondo_mondo_0005129_mesh_d002386_medgen_c0086543_omim_ps116200 Cataract Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200 1 1 1.0000 condition_record_support_limited 20 0 1 Cataract 421 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WRAP53 mondo_mondo_0018875_medgen_c0085390_omim_ps151623_orphanet_524 Li-Fraumeni syndrome MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524 1 1 1.0000 condition_record_support_limited 20 0 0 Li-Fraumeni_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene WRAP53 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_cancer-predisposing_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene WNT9B human_phenotype_ontology_hp_0000089_human_phenotype_ontology_hp_0001968_human_phenotype_ontology_hp_0004741_human_phenotype_ontology_hp_0008641_mondo_mondo_0019637_medgen_c0266295_orphanet_93101 Renal hypoplasia Human_Phenotype_Ontology:HP:0000089,Human_Phenotype_Ontology:HP:0001968,Human_Phenotype_Ontology:HP:0004741,Human_Phenotype_Ontology:HP:0008641,MONDO:MONDO:0019637,MedGen:C0266295,Orphanet:93101 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_hypoplasia 2 low_record_burden_interpretation_limited low_record_burden_gene WNT9B human_phenotype_ontology_hp_0000110_human_phenotype_ontology_hp_0000116_human_phenotype_ontology_hp_0004721_mondo_mondo_0019638_medgen_c3536714_orphanet_93108 Renal dysplasia Human_Phenotype_Ontology:HP:0000110,Human_Phenotype_Ontology:HP:0000116,Human_Phenotype_Ontology:HP:0004721,MONDO:MONDO:0019638,MedGen:C3536714,Orphanet:93108 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_dysplasia 2 low_record_burden_interpretation_limited low_record_burden_gene WNT9B human_phenotype_ontology_hp_0000800_human_phenotype_ontology_hp_0008737_medgen_c1834931 Cystic renal dysplasia Human_Phenotype_Ontology:HP:0000800,Human_Phenotype_Ontology:HP:0008737,MedGen:C1834931 1 1 1.0000 condition_record_support_limited 20 0 1 Cystic_renal_dysplasia 2 low_record_burden_interpretation_limited low_record_burden_gene WNT7B condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 1 See_cases 6 low_record_burden_interpretation_limited low_record_burden_gene WNT7B medgen_c5680330_orphanet_98555 Anophthalmia-microphthalmia syndrome MedGen:C5680330,Orphanet:98555 1 1 1.0000 condition_record_support_limited 20 0 0 Anophthalmia-microphthalmia_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene WNT7A condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene WNT7A mondo_mondo_0013077_medgen_c2751698_omim_613005 Santos syndrome MONDO:MONDO:0013077,MedGen:C2751698,OMIM:613005 1 1 1.0000 condition_record_support_limited 20 0 1 Santos_syndrome 9 low_record_burden_interpretation_limited low_record_burden_gene WNT5A wnt5a_related_disorder WNT5A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 WNT5A-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene WNT5A mondo_mondo_0030036_medgen_c5394371_omim_618878 Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome MONDO:MONDO:0030036,MedGen:C5394371,OMIM:618878 1 1 1.0000 condition_record_support_limited 20 0 0 Leukoencephalopathy,_motor_delay,_spasticity,_and_dysarthria_syndrome 11 low_record_burden_interpretation_limited low_record_burden_gene WNT3 mondo_mondo_0060764_medgen_c4012268_omim_273395_orphanet_3301 Tetraamelia syndrome 1 MONDO:MONDO:0060764,MedGen:C4012268,OMIM:273395,Orphanet:3301 1 1 1.0000 condition_record_support_limited 20 0 0 Tetraamelia_syndrome_1 2 low_record_burden_interpretation_limited low_record_burden_gene WNT3 mondo_mondo_0700039_medgen_c1838703_omim_600057_orphanet_93930 Bladder exstrophy-epispadias-cloacal extrophy complex MONDO:MONDO:0700039,MedGen:C1838703,OMIM:600057,Orphanet:93930 1 1 1.0000 condition_record_support_limited 20 0 0 Bladder_exstrophy-epispadias-cloacal_extrophy_complex 2 low_record_burden_interpretation_limited low_record_burden_gene WNT2B human_phenotype_ontology_hp_0031063_medgen_c4476942 Impaired feeding ability Human_Phenotype_Ontology:HP:0031063,MedGen:C4476942 1 1 1.0000 condition_record_support_limited 20 0 1 Impaired_feeding_ability 3 low_record_burden_interpretation_limited low_record_burden_gene WNT2B human_phenotype_ontology_hp_0001531_human_phenotype_ontology_hp_0008863_human_phenotype_ontology_hp_0008925_medgen_c1867873 Failure to thrive in infancy Human_Phenotype_Ontology:HP:0001531,Human_Phenotype_Ontology:HP:0008863,Human_Phenotype_Ontology:HP:0008925,MedGen:C1867873 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive_in_infancy 3 low_record_burden_interpretation_limited low_record_burden_gene WNT2B human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive 3 low_record_burden_interpretation_limited low_record_burden_gene WNT2B mondo_mondo_0032575_medgen_c4748517_omim_618168 Diarrhea 9 MONDO:MONDO:0032575,MedGen:C4748517,OMIM:618168 1 1 1.0000 condition_record_support_limited 20 0 1 Diarrhea_9 3 low_record_burden_interpretation_limited low_record_burden_gene WNT2B human_phenotype_ontology_hp_0002014_medgen_c0011991 Diarrhea Human_Phenotype_Ontology:HP:0002014,MedGen:C0011991 1 1 1.0000 condition_record_support_limited 20 0 1 Diarrhea 3 low_record_burden_interpretation_limited low_record_burden_gene WNT2B human_phenotype_ontology_hp_0002028_mondo_mondo_0044751_medgen_c0401151 Chronic diarrhea Human_Phenotype_Ontology:HP:0002028,MONDO:MONDO:0044751,MedGen:C0401151 1 1 1.0000 condition_record_support_limited 20 0 1 Chronic_diarrhea 3 low_record_burden_interpretation_limited low_record_burden_gene WNT10B wnt10b_related_disorder WNT10B-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 WNT10B-related_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WNT1 wnt1_related_disorder WNT1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 WNT1-related_disorder 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WNT1 human_phenotype_ontology_hp_0000563_mondo_mondo_0015486_mesh_d007640_medgen_c0022578_omim_ps148300 Keratoconus Human_Phenotype_Ontology:HP:0000563,MONDO:MONDO:0015486,MeSH:D007640,MedGen:C0022578,OMIM:PS148300 1 1 1.0000 condition_record_support_limited 20 0 1 Keratoconus 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WNK4 wnk4_related_disorder WNK4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 WNK4-related_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene WNK4 renal_tubulopathies Renal tubulopathies . 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_tubulopathies 6 low_record_burden_interpretation_limited low_record_burden_gene WNK3 human_phenotype_ontology_hp_0001607_medgen_c0238441 Subglottic stenosis Human_Phenotype_Ontology:HP:0001607,MedGen:C0238441 1 1 1.0000 condition_record_support_limited 20 0 1 Subglottic_stenosis 10 low_record_burden_interpretation_limited low_record_burden_gene WNK3 human_phenotype_ontology_hp_0010535_mondo_mondo_0005296_medgen_c0037315 Sleep apnea Human_Phenotype_Ontology:HP:0010535,MONDO:MONDO:0005296,MedGen:C0037315 1 1 1.0000 condition_record_support_limited 20 0 1 Sleep_apnea 10 low_record_burden_interpretation_limited low_record_burden_gene WNK3 human_phenotype_ontology_hp_0000278_human_phenotype_ontology_hp_0002053_human_phenotype_ontology_hp_0002954_medgen_c0035353 Retrognathia Human_Phenotype_Ontology:HP:0000278,Human_Phenotype_Ontology:HP:0002053,Human_Phenotype_Ontology:HP:0002954,MedGen:C0035353 1 1 1.0000 condition_record_support_limited 20 0 1 Retrognathia 10 low_record_burden_interpretation_limited low_record_burden_gene WNK3 human_phenotype_ontology_hp_0000733_human_phenotype_ontology_hp_0008758_human_phenotype_ontology_hp_0008759_medgen_c0038271_orphanet_306765 Motor stereotypies Human_Phenotype_Ontology:HP:0000733,Human_Phenotype_Ontology:HP:0008758,Human_Phenotype_Ontology:HP:0008759,MedGen:C0038271,Orphanet:306765 1 1 1.0000 condition_record_support_limited 20 0 1 Motor_stereotypies 10 low_record_burden_interpretation_limited low_record_burden_gene WNK3 human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Moderate intellectual disability Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 1 1 1.0000 condition_record_support_limited 20 0 1 Moderate_intellectual_disability 10 low_record_burden_interpretation_limited low_record_burden_gene WNK3 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 10 low_record_burden_interpretation_limited low_record_burden_gene WNK3 human_phenotype_ontology_hp_0001601_mondo_mondo_0007878_medgen_c0264303_omim_150280_orphanet_2373 Congenital laryngomalacia Human_Phenotype_Ontology:HP:0001601,MONDO:MONDO:0007878,MedGen:C0264303,OMIM:150280,Orphanet:2373 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_laryngomalacia 10 low_record_burden_interpretation_limited low_record_burden_gene WNK3 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 10 low_record_burden_interpretation_limited low_record_burden_gene WNK3 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 10 low_record_burden_interpretation_limited low_record_burden_gene WNK2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 1 low_record_burden_interpretation_limited low_record_burden_gene WNK1 hereditary_neuropathy_or_pain_disorder Hereditary neuropathy or pain disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_neuropathy_or_pain_disorder 71 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture WHRN mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive 55 compact_adjacent_exon_block_opportunity local_compact_architecture WHRN medgen_c0011053 Deafness MedGen:C0011053 1 1 1.0000 condition_record_support_limited 20 0 1 Deafness 55 compact_adjacent_exon_block_opportunity local_compact_architecture WFS1 wfs1_spectrum_disorder WFS1-spectrum disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 WFS1-spectrum_disorder 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WFS1 mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 1.0000 condition_record_support_limited 20 0 1 Nonsyndromic_genetic_hearing_loss 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WFS1 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WFS1 mondo_mondo_0007972_medgen_c0025281_omim_156000 Meniere disease MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000 1 1 1.0000 condition_record_support_limited 20 0 1 Meniere_disease 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WFS1 human_phenotype_ontology_hp_0011142_mondo_mondo_0011060_medgen_c1832423_omim_601371_orphanet_91492 Early-onset non-syndromic cataract Human_Phenotype_Ontology:HP:0011142,MONDO:MONDO:0011060,MedGen:C1832423,OMIM:601371,Orphanet:91492 1 1 1.0000 condition_record_support_limited 20 0 1 Early-onset_non-syndromic_cataract 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WFDC2 mondo_mondo_0975835_medgen_c5975469_omim_620984 Bronchiectasis and nasal polyposis MONDO:MONDO:0975835,MedGen:C5975469,OMIM:620984 1 1 1.0000 condition_record_support_limited 20 0 0 Bronchiectasis_and_nasal_polyposis 1 low_record_burden_interpretation_limited low_record_burden_gene WEE2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene WEE2 wee2_related_disorder WEE2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 WEE2-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene WDTC1 wdtc1_related_disorder WDTC1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 WDTC1-related_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene WDR93 medgen_c1298684 Autistic spectrum disorder with isolated skills MedGen:C1298684 1 1 1.0000 condition_record_support_limited 20 0 0 Autistic_spectrum_disorder_with_isolated_skills 1 low_record_burden_interpretation_limited low_record_burden_gene WDR91 neurodevelopmental_disorder_with_brain_malformations_and_multiple_congenital_anomalies Neurodevelopmental disorder with brain malformations and multiple congenital anomalies . 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_brain_malformations_and_multiple_congenital_anomalies 4 low_record_burden_interpretation_limited low_record_burden_gene WDR83OS condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene WDR83 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene WDR81 severe_cerebellar_hypoplasia Severe cerebellar hypoplasia . 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_cerebellar_hypoplasia 36 compact_adjacent_exon_block_opportunity local_compact_architecture WDR81 severe_brain_malformation Severe brain malformation . 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_brain_malformation 36 compact_adjacent_exon_block_opportunity local_compact_architecture WDR81 human_phenotype_ontology_hp_0003811_human_phenotype_ontology_hp_0003820_human_phenotype_ontology_hp_0003824_medgen_c0410916 Neonatal death Human_Phenotype_Ontology:HP:0003811,Human_Phenotype_Ontology:HP:0003820,Human_Phenotype_Ontology:HP:0003824,MedGen:C0410916 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_death 36 compact_adjacent_exon_block_opportunity local_compact_architecture WDR81 human_phenotype_ontology_hp_0045028_mondo_mondo_0015204_medgen_c1956147_orphanet_1083 Microlissencephaly Human_Phenotype_Ontology:HP:0045028,MONDO:MONDO:0015204,MedGen:C1956147,Orphanet:1083 1 1 1.0000 condition_record_support_limited 20 0 0 Microlissencephaly 36 compact_adjacent_exon_block_opportunity local_compact_architecture WDR81 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 36 compact_adjacent_exon_block_opportunity local_compact_architecture WDR81 human_phenotype_ontology_hp_0002324_mondo_mondo_0016344_medgen_c0020225_orphanet_2177 Hydranencephaly Human_Phenotype_Ontology:HP:0002324,MONDO:MONDO:0016344,MedGen:C0020225,Orphanet:2177 1 1 1.0000 condition_record_support_limited 20 0 1 Hydranencephaly 36 compact_adjacent_exon_block_opportunity local_compact_architecture WDR81 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 1 Epileptic_encephalopathy 36 compact_adjacent_exon_block_opportunity local_compact_architecture WDR81 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 36 compact_adjacent_exon_block_opportunity local_compact_architecture WDR74 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 24 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture WDR74 rnu2_2p_related_neurodevelopmental_disorder RNU2-2P-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RNU2-2P-related_neurodevelopmental_disorder 24 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture WDR74 mondo_mondo_0859188_medgen_c5561979_omim_619517 Neurodevelopmental disorder with seizures and brain abnormalities MONDO:MONDO:0859188,MedGen:C5561979,OMIM:619517 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_seizures_and_brain_abnormalities 24 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture WDR74 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 24 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture WDR73 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR73 human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 1.0000 condition_record_support_limited 20 0 0 Dystonic_disorder 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR73 human_phenotype_ontology_hp_0100660_medgen_c0013384 Dyskinesia Human_Phenotype_Ontology:HP:0100660,MedGen:C0013384 1 1 1.0000 condition_record_support_limited 20 0 1 Dyskinesia 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR73 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR72 wdr72_related_disorder WDR72-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 WDR72-related_disorder 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR72 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR72 human_phenotype_ontology_hp_0004912_mondo_mondo_0024300_mesh_d063730_medgen_c1704375 Hypophosphatemic rickets Human_Phenotype_Ontology:HP:0004912,MONDO:MONDO:0024300,MeSH:D063730,MedGen:C1704375 1 1 1.0000 condition_record_support_limited 20 0 1 Hypophosphatemic_rickets 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR62 mondo_mondo_0054636_medgen_c4539927_omim_617616_orphanet_513456 Skraban-Deardorff syndrome MONDO:MONDO:0054636,MedGen:C4539927,OMIM:617616,Orphanet:513456 1 1 1.0000 condition_record_support_limited 20 0 0 Skraban-Deardorff_syndrome 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR62 primary_microcephaly_type_2 Primary microcephaly type 2 . 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_microcephaly_type_2 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR62 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR62 human_phenotype_ontology_hp_0002269_human_phenotype_ontology_hp_0007317_medgen_c1837249 Abnormality of neuronal migration Human_Phenotype_Ontology:HP:0002269,Human_Phenotype_Ontology:HP:0007317,MedGen:C1837249 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_neuronal_migration 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR62 human_phenotype_ontology_hp_0002060_medgen_c4021762 Abnormal cerebral morphology Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_cerebral_morphology 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR5 wdr5_related_neurodevelopmental_delay WDR5-related neurodevelopmental delay . 1 1 1.0000 condition_record_support_limited 20 0 0 WDR5-related_neurodevelopmental_delay 3 low_record_burden_interpretation_limited low_record_burden_gene WDR47 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 2 low_record_burden_interpretation_limited low_record_burden_gene WDR47 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene WDR45B condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene WDR45 mondo_mondo_0014070_medgen_c3808786_omim_615179_orphanet_352745 Oculocutaneous albinism type 7 MONDO:MONDO:0014070,MedGen:C3808786,OMIM:615179,Orphanet:352745 1 1 1.0000 condition_record_support_limited 20 0 1 Oculocutaneous_albinism_type_7 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR45 mondo_mondo_0018307_medgen_c2931845_omim_ps234200_orphanet_385 Neurodegeneration with brain iron accumulation MONDO:MONDO:0018307,MedGen:C2931845,OMIM:PS234200,Orphanet:385 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodegeneration_with_brain_iron_accumulation 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR45 human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Hypoplasia of the corpus callosum Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplasia_of_the_corpus_callosum 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR45 human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 1.0000 condition_record_support_limited 20 0 1 Dystonic_disorder 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR45 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_disorder 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR45 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR45 human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Delayed gross motor development Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_gross_motor_development 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR45 human_phenotype_ontology_hp_0002135_human_phenotype_ontology_hp_0002485_medgen_c1389280 Basal ganglia calcification Human_Phenotype_Ontology:HP:0002135,Human_Phenotype_Ontology:HP:0002485,MedGen:C1389280 1 1 1.0000 condition_record_support_limited 20 0 1 Basal_ganglia_calcification 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR45 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR45 human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Absent speech Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 1.0000 condition_record_support_limited 20 0 1 Absent_speech 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR44 wdr44_related_ciliopathy WDR44-related ciliopathy . 1 1 1.0000 condition_record_support_limited 20 0 0 WDR44-related_ciliopathy 2 low_record_burden_interpretation_limited low_record_burden_gene WDR44 mondo_mondo_0005308_medgen_c4277690_orphanet_363250 Ciliopathy MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 1 1 1.0000 condition_record_support_limited 20 0 0 Ciliopathy 2 low_record_burden_interpretation_limited low_record_burden_gene WDR4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 18 low_record_burden_interpretation_limited low_record_burden_gene WDR4 mondo_mondo_0009627_medgen_c0795949_omim_ps251300_orphanet_2065 Galloway-Mowat syndrome MONDO:MONDO:0009627,MedGen:C0795949,OMIM:PS251300,Orphanet:2065 1 1 1.0000 condition_record_support_limited 20 0 1 Galloway-Mowat_syndrome 18 low_record_burden_interpretation_limited low_record_burden_gene WDR37 wdr37_related_disorder WDR37-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 WDR37-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene WDR37 human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Ventriculomegaly Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 1 1 1.0000 condition_record_support_limited 20 0 1 Ventriculomegaly 9 low_record_burden_interpretation_limited low_record_burden_gene WDR37 human_phenotype_ontology_hp_0001320_medgen_c1840379 Cerebellar vermis hypoplasia Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_vermis_hypoplasia 9 low_record_burden_interpretation_limited low_record_burden_gene WDR35 mondo_mondo_0009894_medgen_c0024507_omim_263520 Short-rib thoracic dysplasia 6 with or without polydactyly MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520 1 1 1.0000 condition_record_support_limited 20 0 1 Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR35 short_rib_thoracic_dysplasia_7_without_polydactyly SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY . 1 1 1.0000 condition_record_support_limited 20 0 1 SHORT-RIB_THORACIC_DYSPLASIA_7_WITHOUT_POLYDACTYLY 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR35 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR35 mondo_mondo_0009162_medgen_c0013903_omim_225500_orphanet_289 Ellis-van Creveld syndrome MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289 1 1 1.0000 condition_record_support_limited 20 0 0 Ellis-van_Creveld_syndrome 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR35 mondo_mondo_0009032_medgen_c4551571_omim_ps218330_orphanet_1515 Cranioectodermal dysplasia MONDO:MONDO:0009032,MedGen:C4551571,OMIM:PS218330,Orphanet:1515 1 1 1.0000 condition_record_support_limited 20 0 1 Cranioectodermal_dysplasia 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR26 wdr26_related_disorder WDR26-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 WDR26-related_disorder 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR26 intellectual_disability_seizures_abnormal_gait_and_distinctive_facial_features Intellectual disability, seizures, abnormal gait and distinctive facial features . 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_seizures,_abnormal_gait_and_distinctive_facial_features 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR19 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR19 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR19 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 1 Leber_congenital_amaurosis 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR19 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR19 mondo_mondo_0000455_medgen_c0730290_orphanet_1871 Cone dystrophy MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 1.0000 condition_record_support_limited 20 0 1 Cone_dystrophy 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR19 mondo_mondo_0005308_medgen_c4277690_orphanet_363250 Ciliopathy MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 1 1 1.0000 condition_record_support_limited 20 0 1 Ciliopathy 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDR11 medgen_c4016965 Hypogonadotropic hypogonadism 14 with anosmia MedGen:C4016965 1 1 1.0000 condition_record_support_limited 20 0 1 Hypogonadotropic_hypogonadism_14_with_anosmia 16 low_record_burden_interpretation_limited low_record_burden_gene WDR1 mondo_mondo_0032485_medgen_c5231400_omim_618009 Intellectual developmental disorder 61 MONDO:MONDO:0032485,MedGen:C5231400,OMIM:618009 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder_61 8 low_record_burden_interpretation_limited low_record_burden_gene WDPCP mondo_mondo_0015375_medgen_c0029294_omim_ps311200_orphanet_140997 Orofaciodigital syndrome MONDO:MONDO:0015375,MedGen:C0029294,OMIM:PS311200,Orphanet:140997 1 1 1.0000 condition_record_support_limited 20 0 1 Orofaciodigital_syndrome 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDPCP mondo_mondo_0030072_medgen_c5394553_omim_618959 Developmental and epileptic encephalopathy, 88 MONDO:MONDO:0030072,MedGen:C5394553,OMIM:618959 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_88 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WDFY3 wdfy3_related_disorder WDFY3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 WDFY3-related_disorder 84 large_gene_or_donor_burden_stress_case donor_burden_stress WDFY3 mondo_mondo_0000508_medgen_c5680525_orphanet_183763 Syndromic intellectual disability MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 1.0000 condition_record_support_limited 20 0 0 Syndromic_intellectual_disability 84 large_gene_or_donor_burden_stress_case donor_burden_stress WDFY3 human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Prostate cancer Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 1 1 1.0000 condition_record_support_limited 20 0 0 Prostate_cancer 84 large_gene_or_donor_burden_stress_case donor_burden_stress WDFY3 mondo_mondo_0011537_medgen_c1854416_omim_605309_orphanet_210548 Macrocephaly-autism syndrome MONDO:MONDO:0011537,MedGen:C1854416,OMIM:605309,Orphanet:210548 1 1 1.0000 condition_record_support_limited 20 0 0 Macrocephaly-autism_syndrome 84 large_gene_or_donor_burden_stress_case donor_burden_stress WDFY3 human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 84 large_gene_or_donor_burden_stress_case donor_burden_stress WDFY3 mondo_mondo_0007974_medgen_c1969562_omim_156200_orphanet_228402 Intellectual disability, autosomal dominant 1 MONDO:MONDO:0007974,MedGen:C1969562,OMIM:156200,Orphanet:228402 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_autosomal_dominant_1 84 large_gene_or_donor_burden_stress_case donor_burden_stress WDFY3 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 84 large_gene_or_donor_burden_stress_case donor_burden_stress WBP4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene WBP4 mondo_mondo_0971043_medgen_c5935629_omim_620852 Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities MONDO:MONDO:0971043,MedGen:C5935629,OMIM:620852 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_hypotonia,_feeding_difficulties,_facial_dysmorphism,_and_brain_abnormalities 5 low_record_burden_interpretation_limited low_record_burden_gene WBP2 mondo_mondo_0033199_medgen_c4539964_omim_617639 Hearing loss, autosomal recessive 107 MONDO:MONDO:0033199,MedGen:C4539964,OMIM:617639 1 1 1.0000 condition_record_support_limited 20 0 0 Hearing_loss,_autosomal_recessive_107 1 low_record_burden_interpretation_limited low_record_burden_gene WASHC5 human_phenotype_ontology_hp_0002061_medgen_c1271100 Lower limb spasticity Human_Phenotype_Ontology:HP:0002061,MedGen:C1271100 1 1 1.0000 condition_record_support_limited 20 0 0 Lower_limb_spasticity 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WASHC5 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WASHC4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene WASF1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 12 low_record_burden_interpretation_limited low_record_burden_gene WASF1 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 1 Epileptic_encephalopathy 12 low_record_burden_interpretation_limited low_record_burden_gene WAS x_linked_neutropenia X-Linked Neutropenia . 1 1 1.0000 condition_record_support_limited 20 0 1 X-Linked_Neutropenia 206 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WAS medgen_c4016481 WISKOTT-ALDRICH SYNDROME, ATTENUATED MedGen:C4016481 1 1 1.0000 condition_record_support_limited 20 0 1 WISKOTT-ALDRICH_SYNDROME,_ATTENUATED 206 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WAS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 206 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WAS human_phenotype_ontology_hp_0001871_human_phenotype_ontology_hp_0003135_medgen_c0850715 Abnormality of blood and blood-forming tissues Human_Phenotype_Ontology:HP:0001871,Human_Phenotype_Ontology:HP:0003135,MedGen:C0850715 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_blood_and_blood-forming_tissues 206 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WAC wac_related_neurodevelopmental_disorder WAC-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 WAC-related_neurodevelopmental_disorder 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WAC wac_related_disorder WAC-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 WAC-related_disorder 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WAC mondo_mondo_0009833_medgen_c0272170_omim_ps260400_orphanet_811 Shwachman syndrome MONDO:MONDO:0009833,MedGen:C0272170,OMIM:PS260400,Orphanet:811 1 1 1.0000 condition_record_support_limited 20 0 1 Shwachman_syndrome 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WAC medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_intellectual_disability 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WAC human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WAC human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture WAC human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VWF von_willebrand_factor_vicenza von Willebrand factor Vicenza . 1 1 1.0000 condition_record_support_limited 20 0 1 von_Willebrand_factor_Vicenza 454 large_gene_or_donor_burden_stress_case donor_burden_stress VWF human_phenotype_ontology_hp_0003010_human_phenotype_ontology_hp_0008294_human_phenotype_ontology_hp_0008337_medgen_c0151529 Prolonged bleeding time Human_Phenotype_Ontology:HP:0003010,Human_Phenotype_Ontology:HP:0008294,Human_Phenotype_Ontology:HP:0008337,MedGen:C0151529 1 1 1.0000 condition_record_support_limited 20 0 1 Prolonged_bleeding_time 454 large_gene_or_donor_burden_stress_case donor_burden_stress VWF human_phenotype_ontology_hp_0001871_human_phenotype_ontology_hp_0003135_medgen_c0850715 Abnormality of blood and blood-forming tissues Human_Phenotype_Ontology:HP:0001871,Human_Phenotype_Ontology:HP:0003135,MedGen:C0850715 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_blood_and_blood-forming_tissues 454 large_gene_or_donor_burden_stress_case donor_burden_stress VWDE mondo_mondo_0033549_medgen_c5436534_omim_618977 Optic atrophy 12 MONDO:MONDO:0033549,MedGen:C5436534,OMIM:618977 1 1 1.0000 condition_record_support_limited 20 0 0 Optic_atrophy_12 1 low_record_burden_interpretation_limited low_record_burden_gene VWCE human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene VWA5B2 mondo_mondo_0010998_medgen_c1832736_omim_601110_orphanet_79321 ALG3-congenital disorder of glycosylation MONDO:MONDO:0010998,MedGen:C1832736,OMIM:601110,Orphanet:79321 1 1 1.0000 condition_record_support_limited 20 0 0 ALG3-congenital_disorder_of_glycosylation 1 low_record_burden_interpretation_limited low_record_burden_gene VWA2 human_phenotype_ontology_hp_0000076_human_phenotype_ontology_hp_0005998_human_phenotype_ontology_hp_0006002_human_phenotype_ontology_hp_0008667_mondo_mondo_0006007_medgen_c0042580 Vesicoureteral reflux Human_Phenotype_Ontology:HP:0000076,Human_Phenotype_Ontology:HP:0005998,Human_Phenotype_Ontology:HP:0006002,Human_Phenotype_Ontology:HP:0008667,MONDO:MONDO:0006007,MedGen:C0042580 1 1 1.0000 condition_record_support_limited 20 0 0 Vesicoureteral_reflux 1 low_record_burden_interpretation_limited low_record_burden_gene VTA1 condition_not_provided condition not provided MedGen:CN169374 1 1 1.0000 condition_record_support_limited 20 1 0 not_specified 1 low_record_burden_interpretation_limited low_record_burden_gene VSX2 vsx2_related_disorder VSX2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 VSX2-related_disorder 52 compact_adjacent_exon_block_opportunity local_compact_architecture VSX2 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 52 compact_adjacent_exon_block_opportunity local_compact_architecture VSX2 human_phenotype_ontology_hp_0000528_human_phenotype_ontology_hp_0001485_human_phenotype_ontology_hp_0007664_medgen_c0003119 Anophthalmia Human_Phenotype_Ontology:HP:0000528,Human_Phenotype_Ontology:HP:0001485,Human_Phenotype_Ontology:HP:0007664,MedGen:C0003119 1 1 1.0000 condition_record_support_limited 20 0 1 Anophthalmia 52 compact_adjacent_exon_block_opportunity local_compact_architecture VRK1 human_phenotype_ontology_hp_0007269_mondo_mondo_0001516_mesh_d009134_medgen_c0026847_omim_ps253300 Spinal muscular atrophy Human_Phenotype_Ontology:HP:0007269,MONDO:MONDO:0001516,MeSH:D009134,MedGen:C0026847,OMIM:PS253300 1 1 1.0000 condition_record_support_limited 20 0 0 Spinal_muscular_atrophy 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VRK1 mondo_mondo_0013853_medgen_c3553449_omim_614678_orphanet_2254 Pontocerebellar hypoplasia type 1B MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678,Orphanet:2254 1 1 1.0000 condition_record_support_limited 20 0 0 Pontocerebellar_hypoplasia_type_1B 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VRK1 mondo_mondo_0017593_medgen_c3468114_orphanet_300605 Juvenile amyotrophic lateral sclerosis MONDO:MONDO:0017593,MedGen:C3468114,Orphanet:300605 1 1 1.0000 condition_record_support_limited 20 0 1 Juvenile_amyotrophic_lateral_sclerosis 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VRK1 mondo_mondo_0018894_medgen_c0393541_orphanet_53739 Distal spinal muscular atrophy MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739 1 1 1.0000 condition_record_support_limited 20 0 0 Distal_spinal_muscular_atrophy 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VRK1 mondo_mondo_0016396_medgen_c5442006_orphanet_2254 Congenital pontocerebellar hypoplasia type 1 MONDO:MONDO:0016396,MedGen:C5442006,Orphanet:2254 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_pontocerebellar_hypoplasia_type_1 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VRK1 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VPS53 mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 Pontoneocerebellar hypoplasia MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 1 1 1.0000 condition_record_support_limited 20 0 1 Pontoneocerebellar_hypoplasia 16 low_record_burden_interpretation_limited low_record_burden_gene VPS51 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene VPS45 condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene VPS45 mondo_mondo_0018542_medgen_c1853118_omim_ps202700_orphanet_42738 Severe congenital neutropenia MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_congenital_neutropenia 16 low_record_burden_interpretation_limited low_record_burden_gene VPS41 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene VPS41 mondo_mondo_0009849_medgen_c0398691_omim_260920_orphanet_343 Hyperimmunoglobulin D with periodic fever MONDO:MONDO:0009849,MedGen:C0398691,OMIM:260920,Orphanet:343 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperimmunoglobulin_D_with_periodic_fever 9 low_record_burden_interpretation_limited low_record_burden_gene VPS37A mondo_mondo_0013962_medgen_c3539494_omim_614898_orphanet_319199 Hereditary spastic paraplegia 53 MONDO:MONDO:0013962,MedGen:C3539494,OMIM:614898,Orphanet:319199 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia_53 1 low_record_burden_interpretation_limited low_record_burden_gene VPS35 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene VPS35 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 3 low_record_burden_interpretation_limited low_record_burden_gene VPS33A mondo_mondo_0015012_medgen_c4310627_omim_617303_orphanet_505248 Mucopolysaccharidosis-plus syndrome MONDO:MONDO:0015012,MedGen:C4310627,OMIM:617303,Orphanet:505248 1 1 1.0000 condition_record_support_limited 20 0 0 Mucopolysaccharidosis-plus_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene VPS26C condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene VPS26C mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene VPS25 vps25_related_neurodevelopmental_delay VPS25-related neurodevelopmental delay . 1 1 1.0000 condition_record_support_limited 20 0 0 VPS25-related_neurodevelopmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene VPS16 vps16_related_disorder VPS16-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 VPS16-related_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VPS16 vps16_associated_disorder VPS16-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 VPS16-associated_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VPS13D human_phenotype_ontology_hp_0007263_mesh_d020754_medgen_c0087012 Spinocerebellar atrophy Human_Phenotype_Ontology:HP:0007263,MeSH:D020754,MedGen:C0087012 1 1 1.0000 condition_record_support_limited 20 0 1 Spinocerebellar_atrophy 76 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13D mondo_mondo_0010847_medgen_c0752122_omim_600223_orphanet_98765 Spinocerebellar ataxia type 4 MONDO:MONDO:0010847,MedGen:C0752122,OMIM:600223,Orphanet:98765 1 1 1.0000 condition_record_support_limited 20 0 1 Spinocerebellar_ataxia_type_4 76 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13D mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 1 1 1.0000 condition_record_support_limited 20 0 0 Leigh_syndrome 76 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13D mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 76 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13D mondo_mondo_0015244_medgen_c5575375_omim_ps213200_orphanet_1172 Autosomal recessive cerebellar ataxia MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200,Orphanet:1172 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_cerebellar_ataxia 76 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B human_phenotype_ontology_hp_0002317_medgen_c0231686 Unsteady gait Human_Phenotype_Ontology:HP:0002317,MedGen:C0231686 1 1 1.0000 condition_record_support_limited 20 0 1 Unsteady_gait 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B mondo_mondo_0014982_medgen_c4310655_omim_617238 Myopia 25, autosomal dominant MONDO:MONDO:0014982,MedGen:C4310655,OMIM:617238 1 1 1.0000 condition_record_support_limited 20 0 1 Myopia_25,_autosomal_dominant 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B medgen_c5394216 High myopia, early-onset MedGen:C5394216 1 1 1.0000 condition_record_support_limited 20 0 1 High_myopia,_early-onset 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B human_phenotype_ontology_hp_0002761_medgen_c1836308 Generalized joint hypermobility Human_Phenotype_Ontology:HP:0002761,MedGen:C1836308 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_joint_hypermobility 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 Congenital long QT syndrome MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_long_QT_syndrome 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B human_phenotype_ontology_hp_0000670_human_phenotype_ontology_hp_0006295_human_phenotype_ontology_hp_0006306_mondo_mondo_0005276_medgen_c0011334 Carious teeth Human_Phenotype_Ontology:HP:0000670,Human_Phenotype_Ontology:HP:0006295,Human_Phenotype_Ontology:HP:0006306,MONDO:MONDO:0005276,MedGen:C0011334 1 1 1.0000 condition_record_support_limited 20 0 1 Carious_teeth 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 0 Autism 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Attention deficit hyperactivity disorder Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 1.0000 condition_record_support_limited 20 0 1 Attention_deficit_hyperactivity_disorder 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13B human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_morphology 996 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13A primray_hypomagnesemia_with_secondary_hypocalcemia primray hypomagnesemia with secondary hypocalcemia . 1 1 1.0000 condition_record_support_limited 20 0 0 primray_hypomagnesemia_with_secondary_hypocalcemia 494 large_gene_or_donor_burden_stress_case donor_burden_stress VPS13A human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 494 large_gene_or_donor_burden_stress_case donor_burden_stress VPS11 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene VPS11 human_phenotype_ontology_hp_0002352_human_phenotype_ontology_hp_0006838_human_phenotype_ontology_hp_0007073_medgen_c0270612 Leukoencephalopathy Human_Phenotype_Ontology:HP:0002352,Human_Phenotype_Ontology:HP:0006838,Human_Phenotype_Ontology:HP:0007073,MedGen:C0270612 1 1 1.0000 condition_record_support_limited 20 0 1 Leukoencephalopathy 3 low_record_burden_interpretation_limited low_record_burden_gene VPS11 mondo_mondo_0030486_medgen_c5562029_omim_619637 Dystonia 32 MONDO:MONDO:0030486,MedGen:C5562029,OMIM:619637 1 1 1.0000 condition_record_support_limited 20 0 0 Dystonia_32 3 low_record_burden_interpretation_limited low_record_burden_gene VMA22 congenital_disorders_of_glycosylation_type_ii Congenital disorders of glycosylation type II MedGen:CN234782 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_disorders_of_glycosylation_type_II 5 low_record_burden_interpretation_limited low_record_burden_gene VMA21 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 8 low_record_burden_interpretation_limited low_record_burden_gene VMA12 tmem199_related_disorder TMEM199-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TMEM199-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene VLDLR vldlr_related_disorder VLDLR-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 VLDLR-related_disorder 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VLDLR mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VLDLR mondo_mondo_0009133_medgen_c0394006_omim_ps224050_orphanet_1766 Dysequilibrium syndrome MONDO:MONDO:0009133,MedGen:C0394006,OMIM:PS224050,Orphanet:1766 1 1 1.0000 condition_record_support_limited 20 0 0 Dysequilibrium_syndrome 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VLDLR human_phenotype_ontology_hp_0001321_human_phenotype_ontology_hp_0006806_human_phenotype_ontology_hp_0006910_human_phenotype_ontology_hp_0007038_human_phenotype_ontology_hp_0007053_medgen_c0266470 Cerebellar hypoplasia Human_Phenotype_Ontology:HP:0001321,Human_Phenotype_Ontology:HP:0006806,Human_Phenotype_Ontology:HP:0006910,Human_Phenotype_Ontology:HP:0007038,Human_Phenotype_Ontology:HP:0007053,MedGen:C0266470 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_hypoplasia 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VLDLR human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VKORC1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene VKORC1 mondo_mondo_0011837_medgen_c1843832_omim_607473_orphanet_98434 Vitamin K-dependent clotting factors, combined deficiency of, type 2 MONDO:MONDO:0011837,MedGen:C1843832,OMIM:607473,Orphanet:98434 1 1 1.0000 condition_record_support_limited 20 0 1 Vitamin_K-dependent_clotting_factors,_combined_deficiency_of,_type_2 5 low_record_burden_interpretation_limited low_record_burden_gene VKORC1 mondo_mondo_0015722_medgen_c4510617_omim_ps277450_orphanet_169826 Hereditary combined deficiency of vitamin K-dependent clotting factors MONDO:MONDO:0015722,MedGen:C4510617,OMIM:PS277450,Orphanet:169826 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_combined_deficiency_of_vitamin_K-dependent_clotting_factors 5 low_record_burden_interpretation_limited low_record_burden_gene VIPAS39 mondo_mondo_0017123_medgen_c4551984_omim_ps208085_orphanet_2697 Arthrogryposis with renal dysfunction and cholestasis syndrome MONDO:MONDO:0017123,MedGen:C4551984,OMIM:PS208085,Orphanet:2697 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis_with_renal_dysfunction_and_cholestasis_syndrome 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VIM syndrome_with_premature_aging syndrome with premature-aging . 1 1 1.0000 condition_record_support_limited 20 0 0 syndrome_with_premature-aging 3 low_record_burden_interpretation_limited low_record_burden_gene VIM condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene VIM human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_cataract 3 low_record_burden_interpretation_limited low_record_burden_gene VHL mondo_mondo_0013199_medgen_c1860707_omim_613254_orphanet_805 Tuberous sclerosis 2 MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805 1 1 1.0000 condition_record_support_limited 20 0 1 Tuberous_sclerosis_2 432 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control VHL human_phenotype_ontology_hp_0009713_medgen_c4024223 Spinal hemangioblastoma Human_Phenotype_Ontology:HP:0009713,MedGen:C4024223 1 1 1.0000 condition_record_support_limited 20 0 1 Spinal_hemangioblastoma 432 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control VHL skin_adenoma Skin adenoma . 1 1 1.0000 condition_record_support_limited 20 0 1 Skin_adenoma 432 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control VHL human_phenotype_ontology_hp_0009711_mondo_mondo_0003343_medgen_c0730303 Retinal capillary hemangioma Human_Phenotype_Ontology:HP:0009711,MONDO:MONDO:0003343,MedGen:C0730303 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_capillary_hemangioma 432 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control VHL human_phenotype_ontology_hp_0000088_human_phenotype_ontology_hp_0000107_human_phenotype_ontology_hp_0000109_mondo_mondo_0002473_medgen_c3887499 Renal cyst Human_Phenotype_Ontology:HP:0000088,Human_Phenotype_Ontology:HP:0000107,Human_Phenotype_Ontology:HP:0000109,MONDO:MONDO:0002473,MedGen:C3887499 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_cyst 432 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control VHL medgen_c4017161 RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS MedGen:C4017161 1 1 1.0000 condition_record_support_limited 20 0 1 RENAL_CELL_CARCINOMA_WITH_PARANEOPLASTIC_ERYTHROCYTOSIS 432 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control VHL mondo_mondo_0017366_medgen_c4274332_omim_ps168000_orphanet_29072 Hereditary pheochromocytoma and paraganglioma MONDO:MONDO:0017366,MedGen:C4274332,OMIM:PS168000,Orphanet:29072 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_pheochromocytoma_and_paraganglioma 432 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control VHL mondo_mondo_0009689_medgen_c0393929_omim_254210_orphanet_590 Familial infantile myasthenia MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_infantile_myasthenia 432 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control VEZF1 mondo_mondo_0859381_medgen_c5830291_omim_620247 Cardiomyopathy, dilated, 100 MONDO:MONDO:0859381,MedGen:C5830291,OMIM:620247 1 1 1.0000 condition_record_support_limited 20 0 0 Cardiomyopathy,_dilated,_100 1 low_record_burden_interpretation_limited low_record_burden_gene VEGFA condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene VEGFA vegfa_related_disorder VEGFA-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 VEGFA-related_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene VDR human_phenotype_ontology_hp_0002748_mondo_mondo_0005520_medgen_c0035579 Rickets Human_Phenotype_Ontology:HP:0002748,MONDO:MONDO:0005520,MedGen:C0035579 1 1 1.0000 condition_record_support_limited 20 0 1 Rickets 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VDR human_phenotype_ontology_hp_0006510_mondo_mondo_0005002_medgen_c0024117_omim_606963 Chronic obstructive pulmonary disease Human_Phenotype_Ontology:HP:0006510,MONDO:MONDO:0005002,MedGen:C0024117,OMIM:606963 1 1 1.0000 condition_record_support_limited 20 0 0 Chronic_obstructive_pulmonary_disease 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VCP human_phenotype_ontology_hp_0003323_human_phenotype_ontology_hp_0009032_medgen_c0240421 Progressive muscle weakness Human_Phenotype_Ontology:HP:0003323,Human_Phenotype_Ontology:HP:0009032,MedGen:C0240421 1 1 1.0000 condition_record_support_limited 20 0 0 Progressive_muscle_weakness 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VCP mondo_mondo_0007488_medgen_c0752347_omim_127750 Lewy body dementia MONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750 1 1 1.0000 condition_record_support_limited 20 0 1 Lewy_body_dementia 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VCP inclusion_body_myopathy_without_early_onset_paget_disease_and_frontotemporal_dementia_1 INCLUSION BODY MYOPATHY WITHOUT EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1 . 1 1 1.0000 condition_record_support_limited 20 0 1 INCLUSION_BODY_MYOPATHY_WITHOUT_EARLY-ONSET_PAGET_DISEASE_AND_FRONTOTEMPORAL_DEMENTIA_1 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VCP human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VCP frontotemporal_dementia_without_amyotrophic_lateral_sclerosis_6_with_neurofibrillary_tangles FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES . 1 1 1.0000 condition_record_support_limited 20 0 1 FRONTOTEMPORAL_DEMENTIA_WITHOUT_AMYOTROPHIC_LATERAL_SCLEROSIS_6,_WITH_NEUROFIBRILLARY_TANGLES 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VCP mondo_mondo_0011951_medgen_c2931786_omim_608030_orphanet_275872_orphanet_803 Amyotrophic lateral sclerosis type 6 MONDO:MONDO:0011951,MedGen:C2931786,OMIM:608030,Orphanet:275872,Orphanet:803 1 1 1.0000 condition_record_support_limited 20 0 1 Amyotrophic_lateral_sclerosis_type_6 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VCP human_phenotype_ontology_hp_0002511_human_phenotype_ontology_hp_0006878_human_phenotype_ontology_hp_0007213_mondo_mondo_0004975_mesh_d000544_medgen_c0002395_orphanet_1020 Alzheimer disease Human_Phenotype_Ontology:HP:0002511,Human_Phenotype_Ontology:HP:0006878,Human_Phenotype_Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020 1 1 1.0000 condition_record_support_limited 20 0 0 Alzheimer_disease 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VCL efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_dilated_cardiomyopathy 4 low_record_burden_interpretation_limited low_record_burden_gene VCL mondo_mondo_0013200_medgen_c2750459_omim_613255 Hypertrophic cardiomyopathy 15 MONDO:MONDO:0013200,MedGen:C2750459,OMIM:613255 1 1 1.0000 condition_record_support_limited 20 0 0 Hypertrophic_cardiomyopathy_15 4 low_record_burden_interpretation_limited low_record_burden_gene VCAN mondo_mondo_0019354_medgen_c0265253_omim_ps108300_orphanet_828 Stickler syndrome MONDO:MONDO:0019354,MedGen:C0265253,OMIM:PS108300,Orphanet:828 1 1 1.0000 condition_record_support_limited 20 0 1 Stickler_syndrome 25 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture VCAN mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 25 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture VAX1 mondo_mondo_0013734_medgen_c3553077_omim_614402 Microphthalmia, syndromic 11 MONDO:MONDO:0013734,MedGen:C3553077,OMIM:614402 1 1 1.0000 condition_record_support_limited 20 0 0 Microphthalmia,_syndromic_11 2 low_record_burden_interpretation_limited low_record_burden_gene VAX1 human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Microphthalmia Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 1 1 1.0000 condition_record_support_limited 20 0 0 Microphthalmia 2 low_record_burden_interpretation_limited low_record_burden_gene VARS2 vars2_related_disorder VARS2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 VARS2-related_disorder 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VARS2 mondo_mondo_0060621_medgen_c4540493_omim_617802 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy MONDO:MONDO:0060621,MedGen:C4540493,OMIM:617802 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_microcephaly,_seizures,_and_cortical_atrophy 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VARS2 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_disease 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VARS1 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_morphology 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture VAPB mondo_mondo_0008453_medgen_c1854058_omim_182980_orphanet_209335 Adult-onset proximal spinal muscular atrophy, autosomal dominant MONDO:MONDO:0008453,MedGen:C1854058,OMIM:182980,Orphanet:209335 1 1 1.0000 condition_record_support_limited 20 0 1 Adult-onset_proximal_spinal_muscular_atrophy,_autosomal_dominant 2 low_record_burden_interpretation_limited low_record_burden_gene VAPA human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 0 Microcephaly 1 low_record_burden_interpretation_limited low_record_burden_gene VANGL1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene VANGL1 medgen_c1838568_omim_600145 Sacral defect with anterior meningocele MedGen:C1838568,OMIM:600145 1 1 1.0000 condition_record_support_limited 20 0 0 Sacral_defect_with_anterior_meningocele 2 low_record_burden_interpretation_limited low_record_burden_gene VANGL1 mondo_mondo_0020705_medgen_c3891448_omim_182940 Neural tube defects, susceptibility to MONDO:MONDO:0020705,MedGen:C3891448,OMIM:182940 1 1 1.0000 condition_record_support_limited 20 0 1 Neural_tube_defects,_susceptibility_to 2 low_record_burden_interpretation_limited low_record_burden_gene VAMP2 severe_neurodevelopmental_delay Severe neurodevelopmental delay . 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_neurodevelopmental_delay 14 low_record_burden_interpretation_limited low_record_burden_gene VAMP1 vamp1_related_disorder VAMP1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 VAMP1-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene VAMP1 mondo_mondo_0014605_medgen_c4225352_omim_616362_orphanet_457284 Houge-Janssens syndrome 2 MONDO:MONDO:0014605,MedGen:C4225352,OMIM:616362,Orphanet:457284 1 1 1.0000 condition_record_support_limited 20 0 1 Houge-Janssens_syndrome_2 13 low_record_burden_interpretation_limited low_record_burden_gene UTRN mondo_mondo_0010679_medgen_c0013264_omim_310200_orphanet_98896 Duchenne muscular dystrophy MONDO:MONDO:0010679,MedGen:C0013264,OMIM:310200,Orphanet:98896 1 1 1.0000 condition_record_support_limited 20 0 0 Duchenne_muscular_dystrophy 1 low_record_burden_interpretation_limited low_record_burden_gene USP9Y mondo_mondo_0010767_medgen_c1839071_omim_415000_orphanet_1646 Spermatogenic failure, Y-linked, 2 MONDO:MONDO:0010767,MedGen:C1839071,OMIM:415000,Orphanet:1646 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure,_Y-linked,_2 1 low_record_burden_interpretation_limited low_record_burden_gene USP9X severe_intellectual_deficiency Severe intellectual deficiency . 1 1 1.0000 condition_record_support_limited 20 0 0 Severe_intellectual_deficiency 128 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture USP9X mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 128 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture USP9X human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 128 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture USP9X human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 128 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture USP9X human_phenotype_ontology_hp_0000953_human_phenotype_ontology_hp_0007527_mondo_mondo_0019289_medgen_c0162834_orphanet_79375 Hyperpigmentation of the skin Human_Phenotype_Ontology:HP:0000953,Human_Phenotype_Ontology:HP:0007527,MONDO:MONDO:0019289,MedGen:C0162834,Orphanet:79375 1 1 1.0000 condition_record_support_limited 20 0 0 Hyperpigmentation_of_the_skin 128 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture USP8 condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene USP7 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USP7 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USP7 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USP53 cholestasis_progressive_familial_intrahepatic_pfic4_like Cholestasis, progressive familial intrahepatic, (PFIC4-like) . 1 1 1.0000 condition_record_support_limited 20 0 1 Cholestasis,_progressive_familial_intrahepatic,_(PFIC4-like) 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USP51 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene USP50 condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene USP34 mondo_mondo_0012916_medgen_c2675875_omim_612513_orphanet_261349 Chromosome 2p16.1-p15 deletion syndrome MONDO:MONDO:0012916,MedGen:C2675875,OMIM:612513,Orphanet:261349 1 1 1.0000 condition_record_support_limited 20 0 0 Chromosome_2p16.1-p15_deletion_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene USP27X condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene USP27X mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene USP27X human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 9 low_record_burden_interpretation_limited low_record_burden_gene USP26 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 1.0000 condition_record_support_limited 20 0 1 Male_infertility 3 low_record_burden_interpretation_limited low_record_burden_gene USP24 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene USP21 mondo_mondo_0008297_medgen_c0162532_omim_176200_orphanet_79473 Variegate porphyria MONDO:MONDO:0008297,MedGen:C0162532,OMIM:176200,Orphanet:79473 1 1 1.0000 condition_record_support_limited 20 0 0 Variegate_porphyria 1 low_record_burden_interpretation_limited low_record_burden_gene USP14 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene USP14 distal_arthrogryposis_and_cns_involvement Distal arthrogryposis and CNS involvement . 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_arthrogryposis_and_CNS_involvement 1 low_record_burden_interpretation_limited low_record_burden_gene USP11 human_phenotype_ontology_hp_0012255_medgen_c4022990 Dynein arm defect of respiratory motile cilia Human_Phenotype_Ontology:HP:0012255,MedGen:C4022990 1 1 1.0000 condition_record_support_limited 20 0 1 Dynein_arm_defect_of_respiratory_motile_cilia 2 low_record_burden_interpretation_limited low_record_burden_gene USP11 human_phenotype_ontology_hp_0002110_mondo_mondo_0004822_medgen_c0006267_omim_ps211400 Bronchiectasis Human_Phenotype_Ontology:HP:0002110,MONDO:MONDO:0004822,MedGen:C0006267,OMIM:PS211400 1 1 1.0000 condition_record_support_limited 20 0 1 Bronchiectasis 2 low_record_burden_interpretation_limited low_record_burden_gene USP11 human_phenotype_ontology_hp_0012259_medgen_c4022986 Absent inner and outer dynein arms Human_Phenotype_Ontology:HP:0012259,MedGen:C4022986 1 1 1.0000 condition_record_support_limited 20 0 1 Absent_inner_and_outer_dynein_arms 2 low_record_burden_interpretation_limited low_record_burden_gene USP11 human_phenotype_ontology_hp_0012262_medgen_c4022983 Abnormal ciliary motility Human_Phenotype_Ontology:HP:0012262,MedGen:C4022983 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_ciliary_motility 2 low_record_burden_interpretation_limited low_record_burden_gene USP11 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 2 low_record_burden_interpretation_limited low_record_burden_gene USH2A human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Visual impairment Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 1.0000 condition_record_support_limited 20 0 0 Visual_impairment 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH2A mondo_mondo_0010170_medgen_c5779850_omim_276902 Usher syndrome type 3A MONDO:MONDO:0010170,MedGen:C5779850,OMIM:276902 1 1 1.0000 condition_record_support_limited 20 0 1 Usher_syndrome_type_3A 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH2A human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorineural_hearing_loss_disorder 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH2A human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Rod-cone dystrophy Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 1 1 1.0000 condition_record_support_limited 20 0 1 Rod-cone_dystrophy 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH2A human_phenotype_ontology_hp_0007698_human_phenotype_ontology_hp_0007722_human_phenotype_ontology_hp_0008017_medgen_c1840457 Retinal pigment epithelial atrophy Human_Phenotype_Ontology:HP:0007698,Human_Phenotype_Ontology:HP:0007722,Human_Phenotype_Ontology:HP:0008017,MedGen:C1840457 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_pigment_epithelial_atrophy 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH2A human_phenotype_ontology_hp_0000580_human_phenotype_ontology_hp_0007702_human_phenotype_ontology_hp_0007821_human_phenotype_ontology_hp_0007869_human_phenotype_ontology_hp_0007961_human_phenotype_ontology_hp_0008010_medgen_c4551715 Pigmentary retinopathy Human_Phenotype_Ontology:HP:0000580,Human_Phenotype_Ontology:HP:0007702,Human_Phenotype_Ontology:HP:0007821,Human_Phenotype_Ontology:HP:0007869,Human_Phenotype_Ontology:HP:0007961,Human_Phenotype_Ontology:HP:0008010,MedGen:C4551715 1 1 1.0000 condition_record_support_limited 20 0 1 Pigmentary_retinopathy 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH2A human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 1.0000 condition_record_support_limited 20 0 1 Macular_dystrophy 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH2A mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH2A medgen_c0011053 Deafness MedGen:C0011053 1 1 1.0000 condition_record_support_limited 20 0 1 Deafness 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH2A human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Congenital stationary night blindness Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_stationary_night_blindness 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH2A mondo_mondo_0011395_medgen_c1858806_omim_604116_orphanet_1872 Cone-rod dystrophy 3 MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy_3 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH2A human_phenotype_ontology_hp_0000618_human_phenotype_ontology_hp_0007839_mondo_mondo_0001941_medgen_c0456909 Blindness Human_Phenotype_Ontology:HP:0000618,Human_Phenotype_Ontology:HP:0007839,MONDO:MONDO:0001941,MedGen:C0456909 1 1 1.0000 condition_record_support_limited 20 0 1 Blindness 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH2A human_phenotype_ontology_hp_0001103_medgen_c4520679 Abnormal macular morphology Human_Phenotype_Ontology:HP:0001103,MedGen:C4520679 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_macular_morphology 2100 large_gene_or_donor_burden_stress_case donor_burden_stress USH1G ush1g_related_disorder USH1G-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 USH1G-related_disorder 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USH1G medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USH1C mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 199 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USH1C human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 199 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture USB1 usb1_related_disorder USB1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 USB1-related_disorder 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UROD mondo_mondo_0100498_medgen_cn315923 UROD-related inherited porphyria MONDO:MONDO:0100498,MedGen:CN315923 1 1 1.0000 condition_record_support_limited 20 0 1 UROD-related_inherited_porphyria 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UQCRH mondo_mondo_0859321_medgen_c5774259_omim_620137 Mitochondrial complex III deficiency, nuclear type 11 MONDO:MONDO:0859321,MedGen:C5774259,OMIM:620137 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_III_deficiency,_nuclear_type_11 1 low_record_burden_interpretation_limited low_record_burden_gene UQCRC2 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_disease 7 low_record_burden_interpretation_limited low_record_burden_gene UQCRC1 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 1.0000 condition_record_support_limited 20 0 0 Hypertrophic_cardiomyopathy 4 low_record_burden_interpretation_limited low_record_burden_gene UQCRB mondo_mondo_0014064_medgen_c3554606_omim_615158 Mitochondrial complex III deficiency nuclear type 3 MONDO:MONDO:0014064,MedGen:C3554606,OMIM:615158 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_III_deficiency_nuclear_type_3 4 low_record_burden_interpretation_limited low_record_burden_gene UQCC3 mondo_mondo_0014496_medgen_c4015253_omim_616111 Mitochondrial complex III deficiency nuclear type 9 MONDO:MONDO:0014496,MedGen:C4015253,OMIM:616111 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_III_deficiency_nuclear_type_9 1 low_record_burden_interpretation_limited low_record_burden_gene UPK3A condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene UPF3B upf3b_related_neurodevelopmental_disorder UPF3B-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 UPF3B-related_neurodevelopmental_disorder 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UPF3B upf3b_related_disorder UPF3B-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 UPF3B-related_disorder 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UPF3B upf3b_associated_intellectual_disability UPF3B-associated intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 1 UPF3B-associated_intellectual_disability 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UPF3B human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UPF2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene UPF1 human_phenotype_ontology_hp_0001669_mondo_mondo_0000153_medgen_c0040761_orphanet_216675 Transposition of the great arteries Human_Phenotype_Ontology:HP:0001669,MONDO:MONDO:0000153,MedGen:C0040761,Orphanet:216675 1 1 1.0000 condition_record_support_limited 20 0 1 Transposition_of_the_great_arteries 7 low_record_burden_interpretation_limited low_record_burden_gene UPF1 human_phenotype_ontology_hp_0000219_human_phenotype_ontology_hp_0200062_human_phenotype_ontology_hp_0200086_medgen_c1865017 Thin upper lip vermilion Human_Phenotype_Ontology:HP:0000219,Human_Phenotype_Ontology:HP:0200062,Human_Phenotype_Ontology:HP:0200086,MedGen:C1865017 1 1 1.0000 condition_record_support_limited 20 0 1 Thin_upper_lip_vermilion 7 low_record_burden_interpretation_limited low_record_burden_gene UPF1 human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 1.0000 condition_record_support_limited 20 0 1 Strabismus 7 low_record_burden_interpretation_limited low_record_burden_gene UPF1 human_phenotype_ontology_hp_0011536_mondo_mondo_0008832_medgen_c3178806_omim_208530_orphanet_97548 Right atrial isomerism Human_Phenotype_Ontology:HP:0011536,MONDO:MONDO:0008832,MedGen:C3178806,OMIM:208530,Orphanet:97548 1 1 1.0000 condition_record_support_limited 20 0 1 Right_atrial_isomerism 7 low_record_burden_interpretation_limited low_record_burden_gene UPF1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 7 low_record_burden_interpretation_limited low_record_burden_gene UPF1 gdf1_related_disorder GDF1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GDF1-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene UPF1 gdf1_related_disorders GDF1-RELATED DISORDERS . 1 1 1.0000 condition_record_support_limited 20 0 1 GDF1-RELATED_DISORDERS 7 low_record_burden_interpretation_limited low_record_burden_gene UPF1 mondo_mondo_0013463_medgen_c3151221_omim_613854_orphanet_860 Congenital heart defects, multiple types, 6 MONDO:MONDO:0013463,MedGen:C3151221,OMIM:613854,Orphanet:860 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_heart_defects,_multiple_types,_6 7 low_record_burden_interpretation_limited low_record_burden_gene UNG condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UNC93B1 unc93b1_related_disorder UNC93B1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 UNC93B1-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene UNC93B1 mondo_mondo_0700264_medgen_c5394397_orphanet_477647 Type 1 interferonopathy MONDO:MONDO:0700264,MedGen:C5394397,Orphanet:477647 1 1 1.0000 condition_record_support_limited 20 0 0 Type_1_interferonopathy 14 low_record_burden_interpretation_limited low_record_burden_gene UNC93B1 human_phenotype_ontology_hp_0002721_human_phenotype_ontology_hp_0005362_human_phenotype_ontology_hp_0005371_mondo_mondo_0021094_medgen_c0021051_omim_ps300755 Immunodeficiency Human_Phenotype_Ontology:HP:0002721,Human_Phenotype_Ontology:HP:0005362,Human_Phenotype_Ontology:HP:0005371,MONDO:MONDO:0021094,MedGen:C0021051,OMIM:PS300755 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency 14 low_record_burden_interpretation_limited low_record_burden_gene UNC80 human_phenotype_ontology_hp_0011343_medgen_c2237142 Moderate global developmental delay Human_Phenotype_Ontology:HP:0011343,MedGen:C2237142 1 1 1.0000 condition_record_support_limited 20 0 0 Moderate_global_developmental_delay 147 large_gene_or_donor_burden_stress_case donor_burden_stress UNC80 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 147 large_gene_or_donor_burden_stress_case donor_burden_stress UNC80 mondo_mondo_0024567_medgen_c3809454_omim_615419_orphanet_371364_orphanet_700336 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 MONDO:MONDO:0024567,MedGen:C3809454,OMIM:615419,Orphanet:371364,Orphanet:700336 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_1 147 large_gene_or_donor_burden_stress_case donor_burden_stress UNC80 mondo_mondo_0014176_medgen_c4706556_omim_ps615419_orphanet_371364 Hypotonia, infantile, with psychomotor retardation and characteristic facies MONDO:MONDO:0014176,MedGen:C4706556,OMIM:PS615419,Orphanet:371364 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies 147 large_gene_or_donor_burden_stress_case donor_burden_stress UNC79 unc79_related_neurodevelopmental_disorder UNC79-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 UNC79-related_neurodevelopmental_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene UNC79 unc79_related_disorder UNC79-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 UNC79-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene UNC79 unc79_associated_seizure_disorder UNC79-associated seizure disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 UNC79-associated_seizure_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene UNC45B unc45b_related_disorder UNC45B-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 UNC45B-related_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene UNC45B human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 1.0000 condition_record_support_limited 20 0 1 Myopathy 6 low_record_burden_interpretation_limited low_record_burden_gene UNC45B mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 Dilated cardiomyopathy 1A MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 1 1 1.0000 condition_record_support_limited 20 0 0 Dilated_cardiomyopathy_1A 6 low_record_burden_interpretation_limited low_record_burden_gene UNC45B mondo_mondo_0014565_medgen_c4225389_omim_616279_orphanet_91492 Cataract 43 MONDO:MONDO:0014565,MedGen:C4225389,OMIM:616279,Orphanet:91492 1 1 1.0000 condition_record_support_limited 20 0 0 Cataract_43 6 low_record_burden_interpretation_limited low_record_burden_gene UNC13A condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene UNC13A unc13a_associated_disorder UNC13A-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 UNC13A-associated_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene UNC13A human_phenotype_ontology_hp_0001295_human_phenotype_ontology_hp_0001309_human_phenotype_ontology_hp_0001337_medgen_c0040822 Tremor Human_Phenotype_Ontology:HP:0001295,Human_Phenotype_Ontology:HP:0001309,Human_Phenotype_Ontology:HP:0001337,MedGen:C0040822 1 1 1.0000 condition_record_support_limited 20 0 1 Tremor 8 low_record_burden_interpretation_limited low_record_burden_gene UNC13A mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene UNC13A mondo_mondo_0980942_medgen_cn380727_omim_621457 Intellectual developmental disorder with seizures and dysmorphic facies MONDO:MONDO:0980942,MedGen:CN380727,OMIM:621457 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder_with_seizures_and_dysmorphic_facies 8 low_record_burden_interpretation_limited low_record_burden_gene UNC13A human_phenotype_ontology_hp_0002175_human_phenotype_ontology_hp_0002373_human_phenotype_ontology_hp_0007102_medgen_c0009952 Febrile seizure (within the age range of 3 months to 6 years) Human_Phenotype_Ontology:HP:0002175,Human_Phenotype_Ontology:HP:0002373,Human_Phenotype_Ontology:HP:0007102,MedGen:C0009952 1 1 1.0000 condition_record_support_limited 20 0 1 Febrile_seizure_(within_the_age_range_of_3_months_to_6_years) 8 low_record_burden_interpretation_limited low_record_burden_gene UNC13A human_phenotype_ontology_hp_0002376_human_phenotype_ontology_hp_0002471_human_phenotype_ontology_hp_0002489_human_phenotype_ontology_hp_0006797_human_phenotype_ontology_hp_0006828_human_phenotype_ontology_hp_0006854_human_phenotype_ontology_hp_0007037_human_phenotype_ontology_hp_0007242_human_phenotype_ontology_hp_0007247_medgen_c1836830 Developmental regression Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_regression 8 low_record_burden_interpretation_limited low_record_burden_gene UNC13A human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 8 low_record_burden_interpretation_limited low_record_burden_gene UNC13A mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 8 low_record_burden_interpretation_limited low_record_burden_gene UNC13A mondo_mondo_0007103_medgen_c1862939_omim_105400_orphanet_803 Amyotrophic lateral sclerosis type 1 MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803 1 1 1.0000 condition_record_support_limited 20 0 0 Amyotrophic_lateral_sclerosis_type_1 8 low_record_burden_interpretation_limited low_record_burden_gene UNC119 human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 1.0000 condition_record_support_limited 20 0 1 Macular_dystrophy 1 low_record_burden_interpretation_limited low_record_burden_gene UNC119 mondo_mondo_0957240_medgen_c5830446_omim_620342 Cone-rod dystrophy 24 MONDO:MONDO:0957240,MedGen:C5830446,OMIM:620342 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy_24 1 low_record_burden_interpretation_limited low_record_burden_gene UMPS human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy 5 low_record_burden_interpretation_limited low_record_burden_gene UMOD human_phenotype_ontology_hp_0000088_human_phenotype_ontology_hp_0000107_human_phenotype_ontology_hp_0000109_mondo_mondo_0002473_medgen_c3887499 Renal cyst Human_Phenotype_Ontology:HP:0000088,Human_Phenotype_Ontology:HP:0000107,Human_Phenotype_Ontology:HP:0000109,MONDO:MONDO:0002473,MedGen:C3887499 1 1 1.0000 condition_record_support_limited 20 0 0 Renal_cyst 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UMOD mondo_mondo_0001106_medgen_c0035078 Kidney failure MONDO:MONDO:0001106,MedGen:C0035078 1 1 1.0000 condition_record_support_limited 20 0 0 Kidney_failure 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UMOD mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ULK2 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 1 low_record_burden_interpretation_limited low_record_burden_gene UIMC1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene UHMK1 cerebral_visual_impairment_and_intellectual_disability Cerebral visual impairment and intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_visual_impairment_and_intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene UGP2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene UGP2 mondo_mondo_0032895_medgen_c5231487_omim_618744 Developmental and epileptic encephalopathy, 83 MONDO:MONDO:0032895,MedGen:C5231487,OMIM:618744 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_83 1 low_record_burden_interpretation_limited low_record_burden_gene UGP2 d_6618 D-6618 . 1 1 1.0000 condition_record_support_limited 20 0 1 D-6618 1 low_record_burden_interpretation_limited low_record_burden_gene UGGT1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 9 low_record_burden_interpretation_limited low_record_burden_gene UGDH mondo_mondo_0018097_medgen_c0037769_orphanet_3451_orphanet_697160 West syndrome MONDO:MONDO:0018097,MedGen:C0037769,Orphanet:3451,Orphanet:697160 1 1 1.0000 condition_record_support_limited 20 0 1 West_syndrome 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGDH ugdh_related_disorder UGDH-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 UGDH-related_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UGDH mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UFSP2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene UFSP2 human_phenotype_ontology_hp_0001385_human_phenotype_ontology_hp_0008787_mondo_mondo_0000158_medgen_c4551649_omim_ps142700 Developmental dysplasia of the hip Human_Phenotype_Ontology:HP:0001385,Human_Phenotype_Ontology:HP:0008787,MONDO:MONDO:0000158,MedGen:C4551649,OMIM:PS142700 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_dysplasia_of_the_hip 9 low_record_burden_interpretation_limited low_record_burden_gene UFSP2 cerebral_visual_impairment_and_intellectual_disability Cerebral visual impairment and intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_visual_impairment_and_intellectual_disability 9 low_record_burden_interpretation_limited low_record_burden_gene UFM1 mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 Congenital long QT syndrome MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_long_QT_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene UCN condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene UCN mondo_mondo_0009747_medgen_c1850406_omim_256810_orphanet_255229 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MONDO:MONDO:0009747,MedGen:C1850406,OMIM:256810,Orphanet:255229 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_DNA_depletion_syndrome_6_(hepatocerebral_type) 1 low_record_burden_interpretation_limited low_record_burden_gene UCN mpv17_related_disorder MPV17-related disorder MedGen:CN239328 1 1 1.0000 condition_record_support_limited 20 0 1 MPV17-related_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene UCHL1 uchl1_related_disorder UCHL1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 UCHL1-related_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UCHL1 mondo_mondo_0013340_medgen_c3150899_omim_613643_orphanet_2828 Parkinson disease 5, autosomal dominant, susceptibility to MONDO:MONDO:0013340,MedGen:C3150899,OMIM:613643,Orphanet:2828 1 1 1.0000 condition_record_support_limited 20 0 1 Parkinson_disease_5,_autosomal_dominant,_susceptibility_to 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UCHL1 human_phenotype_ontology_hp_0001138_human_phenotype_ontology_hp_0007806_mondo_mondo_0002135_medgen_c3887709 Optic neuropathy Human_Phenotype_Ontology:HP:0001138,Human_Phenotype_Ontology:HP:0007806,MONDO:MONDO:0002135,MedGen:C3887709 1 1 1.0000 condition_record_support_limited 20 0 0 Optic_neuropathy 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBTF ubtf_e210k_neuroregression_syndrome UBTF E210K Neuroregression Syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 UBTF_E210K_Neuroregression_Syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene UBTF medgen_c5681780_orphanet_102369 Rare syndromic intellectual disability MedGen:C5681780,Orphanet:102369 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_syndromic_intellectual_disability 7 low_record_burden_interpretation_limited low_record_burden_gene UBTF infantile_or_childhood_onset_neurodegenerative_disease_global_developmental_delay_and_intellectual_disability Infantile or childhood onset neurodegenerative disease, global developmental delay, and intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 1 Infantile_or_childhood_onset_neurodegenerative_disease,_global_developmental_delay,_and_intellectual_disability 7 low_record_burden_interpretation_limited low_record_burden_gene UBTF mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 7 low_record_burden_interpretation_limited low_record_burden_gene UBR7 human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Mild intellectual disability Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 1 1 1.0000 condition_record_support_limited 20 0 0 Mild_intellectual_disability 8 low_record_burden_interpretation_limited low_record_burden_gene UBR5 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene UBR2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene UBR2 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 1 low_record_burden_interpretation_limited low_record_burden_gene UBR2 prph2_related_disorder PRPH2-related disorder MedGen:CN239395 1 1 1.0000 condition_record_support_limited 20 0 1 PRPH2-related_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene UBR2 mondo_mondo_0020382_medgen_c4509881_orphanet_99003 Multifocal pattern dystrophy simulating fundus flavimaculatus MONDO:MONDO:0020382,MedGen:C4509881,Orphanet:99003 1 1 1.0000 condition_record_support_limited 20 0 1 Multifocal_pattern_dystrophy_simulating_fundus_flavimaculatus 1 low_record_burden_interpretation_limited low_record_burden_gene UBQLN4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene UBQLN2 ubqln2_related_disorder UBQLN2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 UBQLN2-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene UBQLN1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene UBQLN1 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_morphology 1 low_record_burden_interpretation_limited low_record_burden_gene UBN2 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene UBN1 human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 1.0000 condition_record_support_limited 20 0 0 Non-immune_hydrops_fetalis 1 low_record_burden_interpretation_limited low_record_burden_gene UBE4A condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene UBE4A ube4a_related_neurodevelopmental_disorder UBE4A-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 UBE4A-related_neurodevelopmental_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene UBE4A ube4a_related_disorder UBE4A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 UBE4A-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene UBE4A mondo_mondo_0010828_medgen_c1838601_omim_600138_orphanet_791 Retinitis pigmentosa 11 MONDO:MONDO:0010828,MedGen:C1838601,OMIM:600138,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa_11 8 low_record_burden_interpretation_limited low_record_burden_gene UBE4A mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene UBE3C condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 1 See_cases 1 low_record_burden_interpretation_limited low_record_burden_gene UBE3C mondo_mondo_0859519_medgen_c5830319_omim_620270 Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities MONDO:MONDO:0859519,MedGen:C5830319,OMIM:620270 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_absent_speech_and_movement_and_behavioral_abnormalities 1 low_record_burden_interpretation_limited low_record_burden_gene UBE3B mondo_mondo_0017393_medgen_c5229849_orphanet_293642 Blepharophimosis - intellectual disability syndrome MONDO:MONDO:0017393,MedGen:C5229849,Orphanet:293642 1 1 1.0000 condition_record_support_limited 20 0 0 Blepharophimosis_-_intellectual_disability_syndrome 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBE3A human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 274 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBE3A human_phenotype_ontology_hp_0002465_medgen_c1848207 Poor speech Human_Phenotype_Ontology:HP:0002465,MedGen:C1848207 1 1 1.0000 condition_record_support_limited 20 0 1 Poor_speech 274 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBE3A mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 274 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBE3A human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 274 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBE3A human_phenotype_ontology_hp_0002474_human_phenotype_ontology_hp_0007192_medgen_c0454641 Expressive language delay Human_Phenotype_Ontology:HP:0002474,Human_Phenotype_Ontology:HP:0007192,MedGen:C0454641 1 1 1.0000 condition_record_support_limited 20 0 1 Expressive_language_delay 274 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBE3A human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 1 Epileptic_encephalopathy 274 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBE3A human_phenotype_ontology_hp_0001346_human_phenotype_ontology_hp_0002353_human_phenotype_ontology_hp_0002429_human_phenotype_ontology_hp_0006841_medgen_c0151611 EEG abnormality Human_Phenotype_Ontology:HP:0001346,Human_Phenotype_Ontology:HP:0002353,Human_Phenotype_Ontology:HP:0002429,Human_Phenotype_Ontology:HP:0006841,MedGen:C0151611 1 1 1.0000 condition_record_support_limited 20 0 1 EEG_abnormality 274 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBE3A medgen_c0424605 Developmental delay MedGen:C0424605 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_delay 274 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBE3A human_phenotype_ontology_hp_0001273_human_phenotype_ontology_hp_0007323_medgen_c1842581 Abnormal corpus callosum morphology Human_Phenotype_Ontology:HP:0001273,Human_Phenotype_Ontology:HP:0007323,MedGen:C1842581 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_corpus_callosum_morphology 274 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBE2A human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 20 compact_adjacent_exon_block_opportunity local_compact_architecture UBE2A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 20 compact_adjacent_exon_block_opportunity local_compact_architecture UBAP2L human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 14 low_record_burden_interpretation_limited low_record_burden_gene UBAP1L condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene UBAP1L mondo_mondo_0014749_medgen_c4225231_omim_616724_orphanet_99798 Tooth agenesis, selective, 7 MONDO:MONDO:0014749,MedGen:C4225231,OMIM:616724,Orphanet:99798 1 1 1.0000 condition_record_support_limited 20 0 1 Tooth_agenesis,_selective,_7 5 low_record_burden_interpretation_limited low_record_burden_gene UBAP1L mondo_mondo_0957048_medgen_c5681367_orphanet_519302 Isolated macular dystrophy MONDO:MONDO:0957048,MedGen:C5681367,Orphanet:519302 1 1 1.0000 condition_record_support_limited 20 0 0 Isolated_macular_dystrophy 5 low_record_burden_interpretation_limited low_record_burden_gene UBAP1 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture UBA2 mondo_mondo_0700107_medgen_c4311048_omim_613026 Chromosome 19q13.11 deletion syndrome, distal MONDO:MONDO:0700107,MedGen:C4311048,OMIM:613026 1 1 1.0000 condition_record_support_limited 20 0 0 Chromosome_19q13.11_deletion_syndrome,_distal 28 compact_adjacent_exon_block_opportunity local_compact_architecture UBA1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene U2AF2 u2af2_related_neurodevelopmental_disorder U2AF2-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 U2AF2-related_neurodevelopmental_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene U2AF2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene U2AF2 human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Leukodystrophy Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 1.0000 condition_record_support_limited 20 0 0 Leukodystrophy 12 low_record_burden_interpretation_limited low_record_burden_gene U2AF1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene TYRP1 human_phenotype_ontology_hp_0001107_human_phenotype_ontology_hp_0007745_human_phenotype_ontology_hp_0007837_mondo_mondo_0017304_mesh_d016117_medgen_c0078917_orphanet_284804 Ocular albinism Human_Phenotype_Ontology:HP:0001107,Human_Phenotype_Ontology:HP:0007745,Human_Phenotype_Ontology:HP:0007837,MONDO:MONDO:0017304,MeSH:D016117,MedGen:C0078917,Orphanet:284804 1 1 1.0000 condition_record_support_limited 20 0 0 Ocular_albinism 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TYRP1 nonsyndromic_oculocutaneous_albinism Nonsyndromic Oculocutaneous Albinism . 1 1 1.0000 condition_record_support_limited 20 0 0 Nonsyndromic_Oculocutaneous_Albinism 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TYRP1 medgen_c1835054 ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF MedGen:C1835054 1 1 1.0000 condition_record_support_limited 20 0 1 ALBINISM,_OCULOCUTANEOUS,_TYPE_II,_MODIFIER_OF 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TYR mondo_mondo_0018137_medgen_c1847132_orphanet_352737 Temperature-sensitive oculocutaneous albinism type 1 MONDO:MONDO:0018137,MedGen:C1847132,Orphanet:352737 1 1 1.0000 condition_record_support_limited 20 0 1 Temperature-sensitive_oculocutaneous_albinism_type_1 311 compact_adjacent_exon_block_opportunity local_compact_architecture TYR human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 1.0000 condition_record_support_limited 20 0 1 Strabismus 311 compact_adjacent_exon_block_opportunity local_compact_architecture TYR human_phenotype_ontology_hp_0012805_medgen_c1096099 Iris transillumination defect Human_Phenotype_Ontology:HP:0012805,MedGen:C1096099 1 1 1.0000 condition_record_support_limited 20 0 1 Iris_transillumination_defect 311 compact_adjacent_exon_block_opportunity local_compact_architecture TYR human_phenotype_ontology_hp_0005599_medgen_c3278401 Hypopigmentation of hair Human_Phenotype_Ontology:HP:0005599,MedGen:C3278401 1 1 1.0000 condition_record_support_limited 20 0 1 Hypopigmentation_of_hair 311 compact_adjacent_exon_block_opportunity local_compact_architecture TYR human_phenotype_ontology_hp_0002214_human_phenotype_ontology_hp_0002286_human_phenotype_ontology_hp_0002294_medgen_c1849221 Fair hair Human_Phenotype_Ontology:HP:0002214,Human_Phenotype_Ontology:HP:0002286,Human_Phenotype_Ontology:HP:0002294,MedGen:C1849221 1 1 1.0000 condition_record_support_limited 20 0 1 Fair_hair 311 compact_adjacent_exon_block_opportunity local_compact_architecture TYR human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_eye 311 compact_adjacent_exon_block_opportunity local_compact_architecture TYR human_phenotype_ontology_hp_0000479_human_phenotype_ontology_hp_0007901_human_phenotype_ontology_hp_0007938_medgen_c0035300 Abnormal retinal morphology Human_Phenotype_Ontology:HP:0000479,Human_Phenotype_Ontology:HP:0007901,Human_Phenotype_Ontology:HP:0007938,MedGen:C0035300 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_retinal_morphology 311 compact_adjacent_exon_block_opportunity local_compact_architecture TYR human_phenotype_ontology_hp_0000587_medgen_c0029131 Abnormal optic nerve morphology Human_Phenotype_Ontology:HP:0000587,MedGen:C0029131 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_optic_nerve_morphology 311 compact_adjacent_exon_block_opportunity local_compact_architecture TXN2 mondo_mondo_0014781_medgen_c5567607_omim_616811_orphanet_478029 Combined oxidative phosphorylation deficiency 29 MONDO:MONDO:0014781,MedGen:C5567607,OMIM:616811,Orphanet:478029 1 1 1.0000 condition_record_support_limited 20 0 0 Combined_oxidative_phosphorylation_deficiency_29 1 low_record_burden_interpretation_limited low_record_burden_gene TWNK human_phenotype_ontology_hp_0001709_mondo_mondo_0000468_medgen_c0151517 Third degree atrioventricular block Human_Phenotype_Ontology:HP:0001709,MONDO:MONDO:0000468,MedGen:C0151517 1 1 1.0000 condition_record_support_limited 20 0 0 Third_degree_atrioventricular_block 82 compact_adjacent_exon_block_opportunity local_compact_architecture TWNK twnk_related_disorder TWNK-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 TWNK-related_disorder 82 compact_adjacent_exon_block_opportunity local_compact_architecture TWNK medgen_c1868097 Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic MedGen:C1868097 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_digenic 82 compact_adjacent_exon_block_opportunity local_compact_architecture TWNK mondo_mondo_0024528_medgen_c1834846_omim_157640 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1 82 compact_adjacent_exon_block_opportunity local_compact_architecture TWNK human_phenotype_ontology_hp_0000562_human_phenotype_ontology_hp_0000590_mondo_mondo_0005181_mesh_d017246_medgen_c0162674_orphanet_520820 Progressive external ophthalmoplegia Human_Phenotype_Ontology:HP:0000562,Human_Phenotype_Ontology:HP:0000590,MONDO:MONDO:0005181,MeSH:D017246,MedGen:C0162674,Orphanet:520820 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_external_ophthalmoplegia 82 compact_adjacent_exon_block_opportunity local_compact_architecture TWNK possible_mitochondrial_disorder_nuclear_genes Possible mitochondrial disorder - nuclear genes . 1 1 1.0000 condition_record_support_limited 20 0 1 Possible_mitochondrial_disorder_-_nuclear_genes 82 compact_adjacent_exon_block_opportunity local_compact_architecture TWNK human_phenotype_ontology_hp_0002068_medgen_c4025729 Neuromuscular dysphagia Human_Phenotype_Ontology:HP:0002068,MedGen:C4025729 1 1 1.0000 condition_record_support_limited 20 0 1 Neuromuscular_dysphagia 82 compact_adjacent_exon_block_opportunity local_compact_architecture TWNK human_phenotype_ontology_hp_0003322_human_phenotype_ontology_hp_0003458_human_phenotype_ontology_hp_0003711_human_phenotype_ontology_hp_0009021_medgen_c4021726 EMG: myopathic abnormalities Human_Phenotype_Ontology:HP:0003322,Human_Phenotype_Ontology:HP:0003458,Human_Phenotype_Ontology:HP:0003711,Human_Phenotype_Ontology:HP:0009021,MedGen:C4021726 1 1 1.0000 condition_record_support_limited 20 0 1 EMG:_myopathic_abnormalities 82 compact_adjacent_exon_block_opportunity local_compact_architecture TWNK human_phenotype_ontology_hp_0001618_medgen_c1527344 Dysphonia Human_Phenotype_Ontology:HP:0001618,MedGen:C1527344 1 1 1.0000 condition_record_support_limited 20 0 1 Dysphonia 82 compact_adjacent_exon_block_opportunity local_compact_architecture TWNK human_phenotype_ontology_hp_0000716_mondo_mondo_0002050_mesh_d003866_medgen_c0011581 Depression Human_Phenotype_Ontology:HP:0000716,MONDO:MONDO:0002050,MeSH:D003866,MedGen:C0011581 1 1 1.0000 condition_record_support_limited 20 0 1 Depression 82 compact_adjacent_exon_block_opportunity local_compact_architecture TWNK human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Bilateral sensorineural hearing impairment Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_sensorineural_hearing_impairment 82 compact_adjacent_exon_block_opportunity local_compact_architecture TWNK human_phenotype_ontology_hp_0001488_medgen_c1865916 Bilateral ptosis Human_Phenotype_Ontology:HP:0001488,MedGen:C1865916 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_ptosis 82 compact_adjacent_exon_block_opportunity local_compact_architecture TWNK human_phenotype_ontology_hp_0008316_medgen_c4021546 Abnormal mitochondria in muscle tissue Human_Phenotype_Ontology:HP:0008316,MedGen:C4021546 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_mitochondria_in_muscle_tissue 82 compact_adjacent_exon_block_opportunity local_compact_architecture TWIST2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene TWIST2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 7 low_record_burden_interpretation_limited low_record_burden_gene TWIST2 mondo_mondo_0008693_medgen_c1860224_omim_200110_orphanet_920 Ablepharon macrostomia syndrome MONDO:MONDO:0008693,MedGen:C1860224,OMIM:200110,Orphanet:920 1 1 1.0000 condition_record_support_limited 20 0 1 Ablepharon_macrostomia_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene TWIST1 medgen_c1863370 Saethre-Chotzen syndrome with eyelid anomalies MedGen:C1863370 1 1 1.0000 condition_record_support_limited 20 0 1 Saethre-Chotzen_syndrome_with_eyelid_anomalies 96 compact_adjacent_exon_block_opportunity local_compact_architecture TWIST1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 96 compact_adjacent_exon_block_opportunity local_compact_architecture TUT1 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 1 low_record_burden_interpretation_limited low_record_burden_gene TUSC3 mondo_mondo_0013707_medgen_c3280543_omim_614345_orphanet_88616 Intellectual disability, autosomal recessive 24 MONDO:MONDO:0013707,MedGen:C3280543,OMIM:614345,Orphanet:88616 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_autosomal_recessive_24 19 low_record_burden_interpretation_limited low_record_burden_gene TUSC3 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 19 low_record_burden_interpretation_limited low_record_burden_gene TULP3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene TULP1 human_phenotype_ontology_hp_0001159_human_phenotype_ontology_hp_0001206_human_phenotype_ontology_hp_0001236_mondo_mondo_0021002_medgen_c0039075 Syndactyly Human_Phenotype_Ontology:HP:0001159,Human_Phenotype_Ontology:HP:0001206,Human_Phenotype_Ontology:HP:0001236,MONDO:MONDO:0021002,MedGen:C0039075 1 1 1.0000 condition_record_support_limited 20 0 1 Syndactyly 151 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TULP1 mondo_mondo_0019353_medgen_c0271093_omim_ps248200_orphanet_827 Stargardt disease MONDO:MONDO:0019353,MedGen:C0271093,OMIM:PS248200,Orphanet:827 1 1 1.0000 condition_record_support_limited 20 0 1 Stargardt_disease 151 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TULP1 human_phenotype_ontology_hp_0000546_human_phenotype_ontology_hp_0007632_human_phenotype_ontology_hp_0007863_mondo_mondo_0004580_mesh_d012162_medgen_c0035304 Retinal degeneration Human_Phenotype_Ontology:HP:0000546,Human_Phenotype_Ontology:HP:0007632,Human_Phenotype_Ontology:HP:0007863,MONDO:MONDO:0004580,MeSH:D012162,MedGen:C0035304 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_degeneration 151 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TULP1 mondo_mondo_0008266_medgen_c4282400_omim_174200 Polydactyly, postaxial, type A1 MONDO:MONDO:0008266,MedGen:C4282400,OMIM:174200 1 1 1.0000 condition_record_support_limited 20 0 1 Polydactyly,_postaxial,_type_A1 151 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TULP1 human_phenotype_ontology_hp_0001156_human_phenotype_ontology_hp_0001189_human_phenotype_ontology_hp_0001201_human_phenotype_ontology_hp_0005630_human_phenotype_ontology_hp_0005657_human_phenotype_ontology_hp_0005727_human_phenotype_ontology_hp_0006017_human_phenotype_ontology_hp_0006128_human_phenotype_ontology_hp_0100667_mondo_mondo_0021004_medgen_c0221357 Brachydactyly Human_Phenotype_Ontology:HP:0001156,Human_Phenotype_Ontology:HP:0001189,Human_Phenotype_Ontology:HP:0001201,Human_Phenotype_Ontology:HP:0005630,Human_Phenotype_Ontology:HP:0005657,Human_Phenotype_Ontology:HP:0005727,Human_Phenotype_Ontology:HP:0006017,Human_Phenotype_Ontology:HP:0006128,Human_Phenotype_Ontology:HP:0100667,MONDO:MONDO:0021004,MedGen:C0221357 1 1 1.0000 condition_record_support_limited 20 0 1 Brachydactyly 151 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TULP1 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_eye 151 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBGCP6 tubgcp6_related_disorder TUBGCP6-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 TUBGCP6-related_disorder 135 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBGCP6 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 135 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBGCP6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 135 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBGCP4 tubgcp4_related_disorder TUBGCP4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TUBGCP4-related_disorder 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBGCP4 medgen_c3502492_orphanet_2518 Autosomal recessive chorioretinopathy-microcephaly syndrome MedGen:C3502492,Orphanet:2518 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_chorioretinopathy-microcephaly_syndrome 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBGCP2 human_phenotype_ontology_hp_0002269_human_phenotype_ontology_hp_0007317_medgen_c1837249 Abnormality of neuronal migration Human_Phenotype_Ontology:HP:0002269,Human_Phenotype_Ontology:HP:0007317,MedGen:C1837249 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_neuronal_migration 2 low_record_burden_interpretation_limited low_record_burden_gene TUBG1 human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Lissencephaly Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 1 1 1.0000 condition_record_support_limited 20 0 0 Lissencephaly 14 low_record_burden_interpretation_limited low_record_burden_gene TUBG1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 14 low_record_burden_interpretation_limited low_record_burden_gene TUBB8 mondo_mondo_0014769_medgen_cn238505_omim_ps615774 Inherited oocyte maturation defect MONDO:MONDO:0014769,MedGen:CN238505,OMIM:PS615774 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_oocyte_maturation_defect 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB6 human_phenotype_ontology_hp_0000508_mondo_mondo_0000728_medgen_c0005745 Ptosis Human_Phenotype_Ontology:HP:0000508,MONDO:MONDO:0000728,MedGen:C0005745 1 1 1.0000 condition_record_support_limited 20 0 0 Ptosis 2 low_record_burden_interpretation_limited low_record_burden_gene TUBB6 mondo_mondo_0060589_medgen_c4540277_omim_617732 Facial palsy, congenital, with ptosis and velopharyngeal dysfunction MONDO:MONDO:0060589,MedGen:C4540277,OMIM:617732 1 1 1.0000 condition_record_support_limited 20 0 0 Facial_palsy,_congenital,_with_ptosis_and_velopharyngeal_dysfunction 2 low_record_burden_interpretation_limited low_record_burden_gene TUBB4A human_phenotype_ontology_hp_0030182_medgen_c4022595 Tetraplegia/tetraparesis Human_Phenotype_Ontology:HP:0030182,MedGen:C4022595 1 1 1.0000 condition_record_support_limited 20 0 1 Tetraplegia/tetraparesis 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB4A mondo_mondo_0800470_medgen_cn375930 TUBB4A-related neurologic disorder MONDO:MONDO:0800470,MedGen:CN375930 1 1 1.0000 condition_record_support_limited 20 0 1 TUBB4A-related_neurologic_disorder 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB4A tubb4a_related_disorder TUBB4A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TUBB4A-related_disorder 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB4A human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Leukodystrophy Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 1.0000 condition_record_support_limited 20 0 1 Leukodystrophy 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB4A mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB4A human_phenotype_ontology_hp_0006808_medgen_c2677328 Cerebral hypomyelination Human_Phenotype_Ontology:HP:0006808,MedGen:C2677328 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_hypomyelination 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB4A medgen_c2732267 Auditory neuropathy spectrum disorder MedGen:C2732267 1 1 1.0000 condition_record_support_limited 20 0 1 Auditory_neuropathy_spectrum_disorder 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB4A human_phenotype_ontology_hp_0006857_human_phenotype_ontology_hp_0007360_human_phenotype_ontology_hp_0007368_medgen_c3279222 Aplasia/Hypoplasia of the cerebellum Human_Phenotype_Ontology:HP:0006857,Human_Phenotype_Ontology:HP:0007360,Human_Phenotype_Ontology:HP:0007368,MedGen:C3279222 1 1 1.0000 condition_record_support_limited 20 0 1 Aplasia/Hypoplasia_of_the_cerebellum 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB4A human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB4A human_phenotype_ontology_hp_0012751_medgen_c4022745 Abnormal basal ganglia MRI signal intensity Human_Phenotype_Ontology:HP:0012751,MedGen:C4022745 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_basal_ganglia_MRI_signal_intensity 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB3 tubb3_releated_disorders TUBB3-Releated Disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 TUBB3-Releated_Disorders 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB3 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB3 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB3 human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Lissencephaly Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 1 1 1.0000 condition_record_support_limited 20 0 0 Lissencephaly 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB3 human_phenotype_ontology_hp_0001491_mondo_mondo_0007614_medgen_c1302995_omim_ps135700_orphanet_45358 Congenital fibrosis of extraocular muscles Human_Phenotype_Ontology:HP:0001491,MONDO:MONDO:0007614,MedGen:C1302995,OMIM:PS135700,Orphanet:45358 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_fibrosis_of_extraocular_muscles 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB3 medgen_c0266449_orphanet_199633 Brain malformation MedGen:C0266449,Orphanet:199633 1 1 1.0000 condition_record_support_limited 20 0 1 Brain_malformation 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB2B tubb2b_related_disorder TUBB2B-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 TUBB2B-related_disorder 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB2B human_phenotype_ontology_hp_0032407_mondo_mondo_0020340_medgen_c1845668_orphanet_98889 Congenital bilateral perisylvian syndrome Human_Phenotype_Ontology:HP:0032407,MONDO:MONDO:0020340,MedGen:C1845668,Orphanet:98889 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_bilateral_perisylvian_syndrome 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB2A mondo_mondo_0100153_medgen_cn850169 Tubulinopathy MONDO:MONDO:0100153,MedGen:CN850169 1 1 1.0000 condition_record_support_limited 20 0 1 Tubulinopathy 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB2A mondo_mondo_0700044_medgen_cn322834 TUBB2A-related tubulinopathy MONDO:MONDO:0700044,MedGen:CN322834 1 1 1.0000 condition_record_support_limited 20 0 1 TUBB2A-related_tubulinopathy 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB2A tubb2a_related_disorder TUBB2A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TUBB2A-related_disorder 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB2A human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB2A mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cerebellar_hypoplasia 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB2A human_phenotype_ontology_hp_0002060_medgen_c4021762 Abnormal cerebral morphology Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cerebral_morphology 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB1 human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 1.0000 condition_record_support_limited 20 0 0 Thrombocytopenia 17 low_record_burden_interpretation_limited low_record_burden_gene TUBB1 mondo_mondo_0015912_medgen_c5200934_omim_155100_orphanet_182050 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MONDO:MONDO:0015912,MedGen:C5200934,OMIM:155100,Orphanet:182050 1 1 1.0000 condition_record_support_limited 20 0 0 Macrothrombocytopenia_and_granulocyte_inclusions_with_or_without_nephritis_or_sensorineural_hearing_loss 17 low_record_burden_interpretation_limited low_record_burden_gene TUBB1 human_phenotype_ontology_hp_0000851_mondo_mondo_0018612_medgen_c0010308_orphanet_442 Congenital hypothyroidism Human_Phenotype_Ontology:HP:0000851,MONDO:MONDO:0018612,MedGen:C0010308,Orphanet:442 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_hypothyroidism 17 low_record_burden_interpretation_limited low_record_burden_gene TUBB human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Ventriculomegaly Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 1 1 1.0000 condition_record_support_limited 20 0 1 Ventriculomegaly 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB tubb_related_disorder TUBB-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TUBB-related_disorder 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBB human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Hypoplasia of the corpus callosum Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplasia_of_the_corpus_callosum 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA8 mondo_mondo_0030827_medgen_c5676968_omim_619840 Macrothrombocytopenia, isolated, 2, autosomal dominant MONDO:MONDO:0030827,MedGen:C5676968,OMIM:619840 1 1 1.0000 condition_record_support_limited 20 0 0 Macrothrombocytopenia,_isolated,_2,_autosomal_dominant 1 low_record_burden_interpretation_limited low_record_burden_gene TUBA4B condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene TUBA4B mondo_mondo_0979230_medgen_c6012733_omim_621226 Spastic ataxia 11, autosomal dominant MONDO:MONDO:0979230,MedGen:C6012733,OMIM:621226 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_ataxia_11,_autosomal_dominant 1 low_record_burden_interpretation_limited low_record_burden_gene TUBA4B mondo_mondo_0014531_medgen_c4015512_omim_616208_orphanet_803 Amyotrophic lateral sclerosis type 22 MONDO:MONDO:0014531,MedGen:C4015512,OMIM:616208,Orphanet:803 1 1 1.0000 condition_record_support_limited 20 0 1 Amyotrophic_lateral_sclerosis_type_22 1 low_record_burden_interpretation_limited low_record_burden_gene TUBA3E human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 1 low_record_burden_interpretation_limited low_record_burden_gene TUBA3E human_phenotype_ontology_hp_0011451_medgen_c2677180 Primary microcephaly Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_microcephaly 1 low_record_burden_interpretation_limited low_record_burden_gene TUBA3E human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Lissencephaly Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 1 1 1.0000 condition_record_support_limited 20 0 1 Lissencephaly 1 low_record_burden_interpretation_limited low_record_burden_gene TUBA3E human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene TUBA1A mondo_mondo_0018097_medgen_c0037769_orphanet_3451_orphanet_697160 West syndrome MONDO:MONDO:0018097,MedGen:C0037769,Orphanet:3451,Orphanet:697160 1 1 1.0000 condition_record_support_limited 20 0 1 West_syndrome 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_intellectual_disability 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A human_phenotype_ontology_hp_0001294_human_phenotype_ontology_hp_0100022_mondo_mondo_0005395_medgen_c0026650 Movement disorder Human_Phenotype_Ontology:HP:0001294,Human_Phenotype_Ontology:HP:0100022,MONDO:MONDO:0005395,MedGen:C0026650 1 1 1.0000 condition_record_support_limited 20 0 1 Movement_disorder 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A human_phenotype_ontology_hp_0040195_medgen_c0424688 Decreased head circumference Human_Phenotype_Ontology:HP:0040195,MedGen:C0424688 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_head_circumference 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A human_phenotype_ontology_hp_0000028_human_phenotype_ontology_hp_0000797_mondo_mondo_0009047_medgen_c0010417_omim_219050 Cryptorchidism Human_Phenotype_Ontology:HP:0000028,Human_Phenotype_Ontology:HP:0000797,MONDO:MONDO:0009047,MedGen:C0010417,OMIM:219050 1 1 1.0000 condition_record_support_limited 20 0 1 Cryptorchidism 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A human_phenotype_ontology_hp_0001491_mondo_mondo_0007614_medgen_c1302995_omim_ps135700_orphanet_45358 Congenital fibrosis of extraocular muscles Human_Phenotype_Ontology:HP:0001491,MONDO:MONDO:0007614,MedGen:C1302995,OMIM:PS135700,Orphanet:45358 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_fibrosis_of_extraocular_muscles 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cerebellar_hypoplasia 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A human_phenotype_ontology_hp_0032407_mondo_mondo_0020340_medgen_c1845668_orphanet_98889 Congenital bilateral perisylvian syndrome Human_Phenotype_Ontology:HP:0032407,MONDO:MONDO:0020340,MedGen:C1845668,Orphanet:98889 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_bilateral_perisylvian_syndrome 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A human_phenotype_ontology_hp_0001320_medgen_c1840379 Cerebellar vermis hypoplasia Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_vermis_hypoplasia 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A mondo_mondo_0011968_medgen_c2936332_omim_608099_orphanet_62 Autosomal recessive limb-girdle muscular dystrophy type 2D MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099,Orphanet:62 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A human_phenotype_ontology_hp_0002269_human_phenotype_ontology_hp_0007317_medgen_c1837249 Abnormality of neuronal migration Human_Phenotype_Ontology:HP:0002269,Human_Phenotype_Ontology:HP:0007317,MedGen:C1837249 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_neuronal_migration 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A human_phenotype_ontology_hp_0002536_human_phenotype_ontology_hp_0006900_medgen_c1856019 Abnormal cortical gyration Human_Phenotype_Ontology:HP:0002536,Human_Phenotype_Ontology:HP:0006900,MedGen:C1856019 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cortical_gyration 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A human_phenotype_ontology_hp_0002060_medgen_c4021762 Abnormal cerebral morphology Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cerebral_morphology 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A human_phenotype_ontology_hp_0002363_medgen_c1850601 Abnormal brainstem morphology Human_Phenotype_Ontology:HP:0002363,MedGen:C1850601 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brainstem_morphology 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TUBA1A human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTR human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 1.0000 condition_record_support_limited 20 0 1 Tip-toe_gait 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTR mondo_mondo_0007275_medgen_c0007286_omim_ps115430 Carpal tunnel syndrome MONDO:MONDO:0007275,MedGen:C0007286,OMIM:PS115430 1 1 1.0000 condition_record_support_limited 20 0 1 Carpal_tunnel_syndrome 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTR mondo_mondo_0019441_medgen_c4275067_orphanet_85451 ATTRV122I amyloidosis MONDO:MONDO:0019441,MedGen:C4275067,Orphanet:85451 1 1 1.0000 condition_record_support_limited 20 0 1 ATTRV122I_amyloidosis 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTPA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 91 compact_adjacent_exon_block_opportunity local_compact_architecture TTPA human_phenotype_ontology_hp_0011442_medgen_c4023354 Abnormal central motor function Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_central_motor_function 91 compact_adjacent_exon_block_opportunity local_compact_architecture TTPA medgen_c4016663 ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY AND RETINITIS PIGMENTOSA MedGen:C4016663 1 1 1.0000 condition_record_support_limited 20 0 1 ATAXIA_WITH_ISOLATED_VITAMIN_E_DEFICIENCY_AND_RETINITIS_PIGMENTOSA 91 compact_adjacent_exon_block_opportunity local_compact_architecture TTN efo_efo_0005306_human_phenotype_ontology_hp_0004756_mondo_mondo_0005477_medgen_c0042514 Ventricular tachycardia EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514 1 1 1.0000 condition_record_support_limited 20 0 1 Ventricular_tachycardia 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN tnn_related_disorder TNN-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TNN-related_disorder 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN human_phenotype_ontology_hp_0003805_human_phenotype_ontology_hp_0009029_medgen_c1853932 Rimmed vacuoles Human_Phenotype_Ontology:HP:0003805,Human_Phenotype_Ontology:HP:0009029,MedGen:C1853932 1 1 1.0000 condition_record_support_limited 20 0 1 Rimmed_vacuoles 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN human_phenotype_ontology_hp_0001723_mondo_mondo_0005201_mesh_d002313_medgen_c0007196_orphanet_217632 Restrictive cardiomyopathy Human_Phenotype_Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196,Orphanet:217632 1 1 1.0000 condition_record_support_limited 20 0 0 Restrictive_cardiomyopathy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN human_phenotype_ontology_hp_0012664_medgen_c4022792 Reduced left ventricular ejection fraction Human_Phenotype_Ontology:HP:0012664,MedGen:C4022792 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_left_ventricular_ejection_fraction 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN mondo_mondo_0005418_medgen_c4324548 Non-compaction cardiomyopathy MONDO:MONDO:0005418,MedGen:C4324548 1 1 1.0000 condition_record_support_limited 20 0 1 Non-compaction_cardiomyopathy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN human_phenotype_ontology_hp_0012819_mondo_mondo_0004496_medgen_c0027059 Myocarditis Human_Phenotype_Ontology:HP:0012819,MONDO:MONDO:0004496,MedGen:C0027059 1 1 1.0000 condition_record_support_limited 20 0 1 Myocarditis 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN mondo_mondo_0018948_medgen_c0270962_orphanet_598 Multiminicore myopathy MONDO:MONDO:0018948,MedGen:C0270962,Orphanet:598 1 1 1.0000 condition_record_support_limited 20 0 0 Multiminicore_myopathy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN human_phenotype_ontology_hp_0001634_mondo_mondo_0004910_medgen_c0026267 Mitral valve prolapse Human_Phenotype_Ontology:HP:0001634,MONDO:MONDO:0004910,MedGen:C0026267 1 1 1.0000 condition_record_support_limited 20 0 1 Mitral_valve_prolapse 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN human_phenotype_ontology_hp_0002065_human_phenotype_ontology_hp_0002477_human_phenotype_ontology_hp_0007340_human_phenotype_ontology_hp_0009047_medgen_c1836296 Lower limb muscle weakness Human_Phenotype_Ontology:HP:0002065,Human_Phenotype_Ontology:HP:0002477,Human_Phenotype_Ontology:HP:0007340,Human_Phenotype_Ontology:HP:0009047,MedGen:C1836296 1 1 1.0000 condition_record_support_limited 20 0 1 Lower_limb_muscle_weakness 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN human_phenotype_ontology_hp_0009805_medgen_c4024201 Low-output congestive heart failure Human_Phenotype_Ontology:HP:0009805,MedGen:C4024201 1 1 1.0000 condition_record_support_limited 20 0 1 Low-output_congestive_heart_failure 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN human_phenotype_ontology_hp_0003325_human_phenotype_ontology_hp_0008971_medgen_c1858127 Limb-girdle muscle weakness Human_Phenotype_Ontology:HP:0003325,Human_Phenotype_Ontology:HP:0008971,MedGen:C1858127 1 1 1.0000 condition_record_support_limited 20 0 1 Limb-girdle_muscle_weakness 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN human_phenotype_ontology_hp_0003797_medgen_c1842552 Limb-girdle muscle atrophy Human_Phenotype_Ontology:HP:0003797,MedGen:C1842552 1 1 1.0000 condition_record_support_limited 20 0 1 Limb-girdle_muscle_atrophy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN human_phenotype_ontology_hp_0031329_medgen_c4531194 Interstitial cardiac fibrosis Human_Phenotype_Ontology:HP:0031329,MedGen:C4531194 1 1 1.0000 condition_record_support_limited 20 0 0 Interstitial_cardiac_fibrosis 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 1.0000 condition_record_support_limited 20 0 0 Hypertrophic_cardiomyopathy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN mondo_mondo_0016112_medgen_c5680794_orphanet_206662 Hereditary inclusion-body myopathy MONDO:MONDO:0016112,MedGen:C5680794,Orphanet:206662 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_inclusion-body_myopathy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN mondo_mondo_0008115_medgen_c4551774_omim_164280_orphanet_1305_orphanet_391641 Feingold syndrome type 1 MONDO:MONDO:0008115,MedGen:C4551774,OMIM:164280,Orphanet:1305,Orphanet:391641 1 1 1.0000 condition_record_support_limited 20 0 1 Feingold_syndrome_type_1 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 Congenital myopathy MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_myopathy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_palsy 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN cap_congenital_myopathy_with_arthrogryposis_multiplex_congenita_without_heart_involvement CAP-congenital myopathy with arthrogryposis multiplex congenita without heart involvement . 1 1 1.0000 condition_record_support_limited 20 0 1 CAP-congenital_myopathy_with_arthrogryposis_multiplex_congenita_without_heart_involvement 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN mondo_mondo_0012180_medgen_c1836906_omim_609040 Arrhythmogenic right ventricular dysplasia 9 MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040 1 1 1.0000 condition_record_support_limited 20 0 0 Arrhythmogenic_right_ventricular_dysplasia_9 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTN human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_musculature 5807 large_gene_or_donor_burden_stress_case donor_burden_stress TTLL5 mondo_mondo_0008982_medgen_c1536451_omim_ps215500_orphanet_75377 Central areolar choroidal dystrophy MONDO:MONDO:0008982,MedGen:C1536451,OMIM:PS215500,Orphanet:75377 1 1 1.0000 condition_record_support_limited 20 0 1 Central_areolar_choroidal_dystrophy 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTI2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene TTI1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene TTI1 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_morphology 9 low_record_burden_interpretation_limited low_record_burden_gene TTC8 human_phenotype_ontology_hp_0001956_human_phenotype_ontology_hp_0008885_medgen_c4551560 Truncal obesity Human_Phenotype_Ontology:HP:0001956,Human_Phenotype_Ontology:HP:0008885,MedGen:C4551560 1 1 1.0000 condition_record_support_limited 20 0 1 Truncal_obesity 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC8 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC8 human_phenotype_ontology_hp_0001830_human_phenotype_ontology_hp_0010346_medgen_c2112129 Postaxial foot polydactyly Human_Phenotype_Ontology:HP:0001830,Human_Phenotype_Ontology:HP:0010346,MedGen:C2112129 1 1 1.0000 condition_record_support_limited 20 0 1 Postaxial_foot_polydactyly 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC8 human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Moderate intellectual disability Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 1 1 1.0000 condition_record_support_limited 20 0 1 Moderate_intellectual_disability 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC5 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene TTC29 ttc29_related_condition TTC29-related condition . 1 1 1.0000 condition_record_support_limited 20 0 0 TTC29-related_condition 11 low_record_burden_interpretation_limited low_record_burden_gene TTC29 medgen_c5681167_orphanet_399775 Male infertility with spermatogenesis disorder MedGen:C5681167,Orphanet:399775 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_spermatogenesis_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene TTC21B short_rib_thoracic_dysplasia_4_with_polydactyly SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY . 1 1 1.0000 condition_record_support_limited 20 0 0 SHORT-RIB_THORACIC_DYSPLASIA_4_WITH_POLYDACTYLY 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC21B human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 1.0000 condition_record_support_limited 20 0 1 Nephrotic_syndrome 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC21B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC21B mondo_mondo_0009732_medgen_c0403399_omim_256300_orphanet_839 Finnish congenital nephrotic syndrome MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839 1 1 1.0000 condition_record_support_limited 20 0 1 Finnish_congenital_nephrotic_syndrome 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC21B mondo_mondo_0014432_medgen_c2936863_omim_615981_orphanet_110 Bardet-Biedl syndrome 2 MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981,Orphanet:110 1 1 1.0000 condition_record_support_limited 20 0 1 Bardet-Biedl_syndrome_2 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC21A ttc21a_related_disorder TTC21A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 TTC21A-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene TTC21A human_phenotype_ontology_hp_0012207_medgen_c4082176 Reduced sperm motility Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_sperm_motility 8 low_record_burden_interpretation_limited low_record_burden_gene TTC21A mondo_mondo_0001913_mesh_d009845_medgen_c0028960 Oligospermia MONDO:MONDO:0001913,MeSH:D009845,MedGen:C0028960 1 1 1.0000 condition_record_support_limited 20 0 1 Oligospermia 8 low_record_burden_interpretation_limited low_record_burden_gene TTC21A human_phenotype_ontology_hp_0012864_medgen_c0403824 Abnormal sperm morphology Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_sperm_morphology 8 low_record_burden_interpretation_limited low_record_burden_gene TTC19 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_disease 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC19 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC19 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TTC12 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 8 low_record_burden_interpretation_limited low_record_burden_gene TTC1 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 1 low_record_burden_interpretation_limited low_record_burden_gene TTBK1 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 2 low_record_burden_interpretation_limited low_record_burden_gene TTBK1 mondo_mondo_0957430_medgen_c0036346_orphanet_641496 Childhood-onset schizophrenia MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 1.0000 condition_record_support_limited 20 0 0 Childhood-onset_schizophrenia 2 low_record_burden_interpretation_limited low_record_burden_gene TSR2 mondo_mondo_0011639_medgen_c4225411_omim_606164_orphanet_124 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis MONDO:MONDO:0011639,MedGen:C4225411,OMIM:606164,Orphanet:124 1 1 1.0000 condition_record_support_limited 20 0 1 Diamond-Blackfan_anemia_15_with_mandibulofacial_dysostosis 10 low_record_burden_interpretation_limited low_record_burden_gene TSR2 mondo_mondo_0010493_medgen_c4225422_omim_300946_orphanet_124 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis MONDO:MONDO:0010493,MedGen:C4225422,OMIM:300946,Orphanet:124 1 1 1.0000 condition_record_support_limited 20 0 1 Diamond-Blackfan_anemia_14_with_mandibulofacial_dysostosis 10 low_record_burden_interpretation_limited low_record_burden_gene TSPOAP1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene TSPOAP1 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 1.0000 condition_record_support_limited 20 0 0 Bardet-Biedl_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene TSPEAR human_phenotype_ontology_hp_0000968_human_phenotype_ontology_hp_0007436_human_phenotype_ontology_hp_0007615_mondo_mondo_0019287_medgen_c0013575_omim_ps305100_orphanet_79373 Ectodermal dysplasia Human_Phenotype_Ontology:HP:0000968,Human_Phenotype_Ontology:HP:0007436,Human_Phenotype_Ontology:HP:0007615,MONDO:MONDO:0019287,MedGen:C0013575,OMIM:PS305100,Orphanet:79373 1 1 1.0000 condition_record_support_limited 20 0 1 Ectodermal_dysplasia 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSPAN12 human_phenotype_ontology_hp_0000655_human_phenotype_ontology_hp_0007773_mondo_mondo_0020248_medgen_c0344290 Vitreoretinopathy Human_Phenotype_Ontology:HP:0000655,Human_Phenotype_Ontology:HP:0007773,MONDO:MONDO:0020248,MedGen:C0344290 1 1 1.0000 condition_record_support_limited 20 0 0 Vitreoretinopathy 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSPAN12 mondo_mondo_0009097_medgen_c1969783_omim_221900_orphanet_91495 Persistent hyperplastic primary vitreous, autosomal recessive MONDO:MONDO:0009097,MedGen:C1969783,OMIM:221900,Orphanet:91495 1 1 1.0000 condition_record_support_limited 20 0 1 Persistent_hyperplastic_primary_vitreous,_autosomal_recessive 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSPAN12 mondo_mondo_0019516_mesh_d000080345_medgen_c0339539_omim_ps133780_orphanet_891 Familial exudative vitreoretinopathy MONDO:MONDO:0019516,MeSH:D000080345,MedGen:C0339539,OMIM:PS133780,Orphanet:891 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_exudative_vitreoretinopathy 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSPAN12 human_phenotype_ontology_hp_6000262_mondo_mondo_0010691_medgen_c0266526_omim_310600_orphanet_649 Atrophia bulborum hereditaria Human_Phenotype_Ontology:HP:6000262,MONDO:MONDO:0010691,MedGen:C0266526,OMIM:310600,Orphanet:649 1 1 1.0000 condition_record_support_limited 20 0 1 Atrophia_bulborum_hereditaria 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSPAN1 medgen_c5679924_orphanet_352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies MedGen:C5679924,Orphanet:352687 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_muscular_alpha-dystroglycanopathy_with_brain_and_eye_anomalies 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSPAN1 autosomal_recessive_pomgnt1_related_disorders Autosomal recessive POMGNT1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_POMGNT1-related_disorders 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSPAN1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSHZ3 mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_anomaly_of_kidney_and_urinary_tract 1 low_record_burden_interpretation_limited low_record_burden_gene TSHZ1 mondo_mondo_0011921_medgen_c1842937_omim_607842 Aural atresia, congenital MONDO:MONDO:0011921,MedGen:C1842937,OMIM:607842 1 1 1.0000 condition_record_support_limited 20 0 0 Aural_atresia,_congenital 1 low_record_burden_interpretation_limited low_record_burden_gene TSHR thyroid_carcinoma_with_thyrotoxicosis_somatic THYROID CARCINOMA WITH THYROTOXICOSIS, SOMATIC . 1 1 1.0000 condition_record_support_limited 20 0 0 THYROID_CARCINOMA_WITH_THYROTOXICOSIS,_SOMATIC 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSHR mondo_mondo_0010035_medgen_c0175694_omim_270400_orphanet_818 Smith-Lemli-Opitz syndrome MONDO:MONDO:0010035,MedGen:C0175694,OMIM:270400,Orphanet:818 1 1 1.0000 condition_record_support_limited 20 0 1 Smith-Lemli-Opitz_syndrome 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSHB tshb_related_disorder TSHB-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TSHB-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene TSHB human_phenotype_ontology_hp_0008245_human_phenotype_ontology_hp_0008248_medgen_c3665349 Pituitary hypothyroidism Human_Phenotype_Ontology:HP:0008245,Human_Phenotype_Ontology:HP:0008248,MedGen:C3665349 1 1 1.0000 condition_record_support_limited 20 0 1 Pituitary_hypothyroidism 12 low_record_burden_interpretation_limited low_record_burden_gene TSGA10 mondo_mondo_0054730_medgen_c4693773_omim_617961 Spermatogenic failure 26 MONDO:MONDO:0054730,MedGen:C4693773,OMIM:617961 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_26 1 low_record_burden_interpretation_limited low_record_burden_gene TSFM efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSFM mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN54 tsen54_pontocerebellar_hypoplasia TSEN54 Pontocerebellar Hypoplasia . 1 1 1.0000 condition_record_support_limited 20 0 1 TSEN54_Pontocerebellar_Hypoplasia 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN54 mondo_mondo_0016759_medgen_c2932714_orphanet_2524 Pontocerebellar hypoplasia type 2 MONDO:MONDO:0016759,MedGen:C2932714,Orphanet:2524 1 1 1.0000 condition_record_support_limited 20 0 1 Pontocerebellar_hypoplasia_type_2 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN54 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN54 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN54 human_phenotype_ontology_hp_0001276_human_phenotype_ontology_hp_0002388_medgen_c0026826 Hypertonia Human_Phenotype_Ontology:HP:0001276,Human_Phenotype_Ontology:HP:0002388,MedGen:C0026826 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertonia 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN54 mondo_mondo_0013772_medgen_c4751114_omim_614482_orphanet_300313 Huppke-Brendel syndrome MONDO:MONDO:0013772,MedGen:C4751114,OMIM:614482,Orphanet:300313 1 1 1.0000 condition_record_support_limited 20 0 1 Huppke-Brendel_syndrome 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN54 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN54 mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cerebellar_hypoplasia 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN54 human_phenotype_ontology_hp_0000646_mondo_mondo_0001020_medgen_c0002418 Amblyopia Human_Phenotype_Ontology:HP:0000646,MONDO:MONDO:0001020,MedGen:C0002418 1 1 1.0000 condition_record_support_limited 20 0 1 Amblyopia 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN54 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSEN2 human_phenotype_ontology_hp_0005575_mondo_mondo_0001549_medgen_c0019061_orphanet_544458 Hemolytic-uremic syndrome Human_Phenotype_Ontology:HP:0005575,MONDO:MONDO:0001549,MedGen:C0019061,Orphanet:544458 1 1 1.0000 condition_record_support_limited 20 0 1 Hemolytic-uremic_syndrome 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TSC2 mondo_mondo_0011346_medgen_c1863688_omim_603592_orphanet_3467_orphanet_93602 Xanthinuria type II MONDO:MONDO:0011346,MedGen:C1863688,OMIM:603592,Orphanet:3467,Orphanet:93602 1 1 1.0000 condition_record_support_limited 20 0 0 Xanthinuria_type_II 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC2 human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC2 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC2 human_phenotype_ontology_hp_0002664_human_phenotype_ontology_hp_0003008_human_phenotype_ontology_hp_0006741_mondo_mondo_0005070_mesh_d009369_medgen_c0027651 Neoplasm Human_Phenotype_Ontology:HP:0002664,Human_Phenotype_Ontology:HP:0003008,Human_Phenotype_Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651 1 1 1.0000 condition_record_support_limited 20 0 1 Neoplasm 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC2 human_phenotype_ontology_hp_0012469_medgen_c3887898 Infantile spasms Human_Phenotype_Ontology:HP:0012469,MedGen:C3887898 1 1 1.0000 condition_record_support_limited 20 0 1 Infantile_spasms 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC2 human_phenotype_ontology_hp_0010566_mondo_mondo_0006499_medgen_c0018552 Hamartoma Human_Phenotype_Ontology:HP:0010566,MONDO:MONDO:0006499,MedGen:C0018552 1 1 1.0000 condition_record_support_limited 20 0 1 Hamartoma 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC2 human_phenotype_ontology_hp_0032046_medgen_c2938983 Focal cortical dysplasia Human_Phenotype_Ontology:HP:0032046,MedGen:C2938983 1 1 1.0000 condition_record_support_limited 20 0 1 Focal_cortical_dysplasia 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC2 everolimus_response Everolimus response . 1 1 1.0000 condition_record_support_limited 20 0 1 Everolimus_response 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC2 human_phenotype_ontology_hp_0009722_medgen_c1860711 Dental enamel pits Human_Phenotype_Ontology:HP:0009722,MedGen:C1860711 1 1 1.0000 condition_record_support_limited 20 0 1 Dental_enamel_pits 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC2 mondo_mondo_0002629_medgen_c0585442_omim_259500_orphanet_668 Bone osteosarcoma MONDO:MONDO:0002629,MedGen:C0585442,OMIM:259500,Orphanet:668 1 1 1.0000 condition_record_support_limited 20 0 1 Bone_osteosarcoma 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC2 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC2 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC2 human_phenotype_ontology_hp_0002060_medgen_c4021762 Abnormal cerebral morphology Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cerebral_morphology 1411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC1 human_phenotype_ontology_hp_0000083_human_phenotype_ontology_hp_0000084_human_phenotype_ontology_hp_0004723_medgen_c1565489 Renal insufficiency Human_Phenotype_Ontology:HP:0000083,Human_Phenotype_Ontology:HP:0000084,Human_Phenotype_Ontology:HP:0004723,MedGen:C1565489 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_insufficiency 739 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC1 human_phenotype_ontology_hp_0000803_medgen_c1969144 Renal cortical cysts Human_Phenotype_Ontology:HP:0000803,MedGen:C1969144 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_cortical_cysts 739 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC1 human_phenotype_ontology_hp_0005562_medgen_c0431718 Multiple renal cysts Human_Phenotype_Ontology:HP:0005562,MedGen:C0431718 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_renal_cysts 739 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC1 human_phenotype_ontology_hp_0010566_mondo_mondo_0006499_medgen_c0018552 Hamartoma Human_Phenotype_Ontology:HP:0010566,MONDO:MONDO:0006499,MedGen:C0018552 1 1 1.0000 condition_record_support_limited 20 0 1 Hamartoma 739 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC1 human_phenotype_ontology_hp_0002539_human_phenotype_ontology_hp_0007139_mondo_mondo_0017094_medgen_c0431380_orphanet_268950 Cortical dysplasia Human_Phenotype_Ontology:HP:0002539,Human_Phenotype_Ontology:HP:0007139,MONDO:MONDO:0017094,MedGen:C0431380,Orphanet:268950 1 1 1.0000 condition_record_support_limited 20 0 1 Cortical_dysplasia 739 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC1 human_phenotype_ontology_hp_0009729_mondo_mondo_0006123_medgen_c1332852 Cardiac rhabdomyoma Human_Phenotype_Ontology:HP:0009729,MONDO:MONDO:0006123,MedGen:C1332852 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiac_rhabdomyoma 739 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC1 autosomal_dominant_epilepsy Autosomal dominant epilepsy . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_epilepsy 739 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TSC1 human_phenotype_ontology_hp_0009720_medgen_c0265319 Adenoma sebaceum Human_Phenotype_Ontology:HP:0009720,MedGen:C0265319 1 1 1.0000 condition_record_support_limited 20 0 1 Adenoma_sebaceum 739 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TRRAP trrap_related_neurodevelopmental_disorder TRRAP-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 TRRAP-related_neurodevelopmental_disorder 31 large_gene_or_donor_burden_stress_case donor_burden_stress TRRAP trrap_related_disorder TRRAP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 TRRAP-related_disorder 31 large_gene_or_donor_burden_stress_case donor_burden_stress TRRAP mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 31 large_gene_or_donor_burden_stress_case donor_burden_stress TRRAP human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 31 large_gene_or_donor_burden_stress_case donor_burden_stress TRPV6 human_phenotype_ontology_hp_0003060_human_phenotype_ontology_hp_0003061_human_phenotype_ontology_hp_0003096_human_phenotype_ontology_hp_0003100_human_phenotype_ontology_hp_0005064_medgen_c1833144 Slender long bone Human_Phenotype_Ontology:HP:0003060,Human_Phenotype_Ontology:HP:0003061,Human_Phenotype_Ontology:HP:0003096,Human_Phenotype_Ontology:HP:0003100,Human_Phenotype_Ontology:HP:0005064,MedGen:C1833144 1 1 1.0000 condition_record_support_limited 20 0 1 Slender_long_bone 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV6 metaphyseal_fractures Metaphyseal fractures . 1 1 1.0000 condition_record_support_limited 20 0 1 Metaphyseal_fractures 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV6 human_phenotype_ontology_hp_0000843_mondo_mondo_0001741_medgen_c0020502 Hyperparathyroidism Human_Phenotype_Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperparathyroidism 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV6 embryonic_calcium_dysregulation Embryonic calcium dysregulation . 1 1 1.0000 condition_record_support_limited 20 0 1 Embryonic_calcium_dysregulation 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV5 renal_calcium_wasting_hypercalciuria Renal Calcium Wasting Hypercalciuria . 1 1 1.0000 condition_record_support_limited 20 0 0 Renal_Calcium_Wasting_Hypercalciuria 1 low_record_burden_interpretation_limited low_record_burden_gene TRPV4 trpv4_related_hereditary_motor_and_sensory_neuropathy TRPV4-Related Hereditary Motor And Sensory Neuropathy . 1 1 1.0000 condition_record_support_limited 20 0 1 TRPV4-Related_Hereditary_Motor_And_Sensory_Neuropathy 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 trpv4_associated_disorders TRPV4-Associated Disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 TRPV4-Associated_Disorders 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 medgen_c3150755_omim_613508 Sodium serum level quantitative trait locus 1 MedGen:C3150755,OMIM:613508 1 1 1.0000 condition_record_support_limited 20 0 1 Sodium_serum_level_quantitative_trait_locus_1 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 mondo_mondo_0011263_medgen_c1865117_omim_602613 Skeletal dysplasia and progressive central nervous system degeneration, lethal MONDO:MONDO:0011263,MedGen:C1865117,OMIM:602613 1 1 1.0000 condition_record_support_limited 20 0 1 Skeletal_dysplasia_and_progressive_central_nervous_system_degeneration,_lethal 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 human_phenotype_ontology_hp_0002654_mondo_mondo_0016648_medgen_c0026760_omim_ps132400_orphanet_251 Multiple epiphyseal dysplasia Human_Phenotype_Ontology:HP:0002654,MONDO:MONDO:0016648,MedGen:C0026760,OMIM:PS132400,Orphanet:251 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_epiphyseal_dysplasia 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 human_phenotype_ontology_hp_0007210_medgen_c4024921 Lower limb amyotrophy Human_Phenotype_Ontology:HP:0007210,MedGen:C4024921 1 1 1.0000 condition_record_support_limited 20 0 1 Lower_limb_amyotrophy 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 mondo_mondo_0024257_medgen_c0270763_orphanet_98505 Hereditary motor neuron disease MONDO:MONDO:0024257,MedGen:C0270763,Orphanet:98505 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_motor_neuron_disease 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 human_phenotype_ontology_hp_0002177_human_phenotype_ontology_hp_0003457_human_phenotype_ontology_hp_0003751_human_phenotype_ontology_hp_0003753_human_phenotype_ontology_hp_0100286_medgen_c0476403 EMG abnormality Human_Phenotype_Ontology:HP:0002177,Human_Phenotype_Ontology:HP:0003457,Human_Phenotype_Ontology:HP:0003751,Human_Phenotype_Ontology:HP:0003753,Human_Phenotype_Ontology:HP:0100286,MedGen:C0476403 1 1 1.0000 condition_record_support_limited 20 0 1 EMG_abnormality 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 mondo_mondo_0018894_medgen_c0393541_orphanet_53739 Distal spinal muscular atrophy MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_spinal_muscular_atrophy 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 1 1 1.0000 condition_record_support_limited 20 0 0 Connective_tissue_disorder 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 human_phenotype_ontology_hp_0001762_mondo_mondo_0007342_medgen_c0009081_omim_119800_orphanet_199315 Clubfoot Human_Phenotype_Ontology:HP:0001762,MONDO:MONDO:0007342,MedGen:C0009081,OMIM:119800,Orphanet:199315 1 1 1.0000 condition_record_support_limited 20 0 1 Clubfoot 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 mondo_mondo_0054551_medgen_c4479260_omim_617383 Avascular necrosis of femoral head, primary, 2 MONDO:MONDO:0054551,MedGen:C4479260,OMIM:617383 1 1 1.0000 condition_record_support_limited 20 0 1 Avascular_necrosis_of_femoral_head,_primary,_2 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV4 mondo_mondo_0021944_medgen_c1852271_omim_ps609129 Auditory neuropathy MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 1 1 1.0000 condition_record_support_limited 20 0 0 Auditory_neuropathy 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPV1 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 1 low_record_burden_interpretation_limited low_record_burden_gene TRPS1 medgen_c5231006 Trichorhinophalangeal syndrome type 1 and 3 MedGen:C5231006 1 1 1.0000 condition_record_support_limited 20 0 0 Trichorhinophalangeal_syndrome_type_1_and_3 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPS1 human_phenotype_ontology_hp_0002237_human_phenotype_ontology_hp_0002291_human_phenotype_ontology_hp_0004522_human_phenotype_ontology_hp_0004538_human_phenotype_ontology_hp_0008070_medgen_c5551005 Sparse hair Human_Phenotype_Ontology:HP:0002237,Human_Phenotype_Ontology:HP:0002291,Human_Phenotype_Ontology:HP:0004522,Human_Phenotype_Ontology:HP:0004538,Human_Phenotype_Ontology:HP:0008070,MedGen:C5551005 1 1 1.0000 condition_record_support_limited 20 0 1 Sparse_hair 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPS1 human_phenotype_ontology_hp_0000535_human_phenotype_ontology_hp_0002222_human_phenotype_ontology_hp_0002554_human_phenotype_ontology_hp_0004520_human_phenotype_ontology_hp_0004551_medgen_c4282407 Sparse and thin eyebrow Human_Phenotype_Ontology:HP:0000535,Human_Phenotype_Ontology:HP:0002222,Human_Phenotype_Ontology:HP:0002554,Human_Phenotype_Ontology:HP:0004520,Human_Phenotype_Ontology:HP:0004551,MedGen:C4282407 1 1 1.0000 condition_record_support_limited 20 0 1 Sparse_and_thin_eyebrow 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPS1 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPS1 human_phenotype_ontology_hp_0003499_human_phenotype_ontology_hp_0003508_medgen_c0878660 Proportionate short stature Human_Phenotype_Ontology:HP:0003499,Human_Phenotype_Ontology:HP:0003508,MedGen:C0878660 1 1 1.0000 condition_record_support_limited 20 0 1 Proportionate_short_stature 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPS1 human_phenotype_ontology_hp_0000447_medgen_c1853482 Pear-shaped nose Human_Phenotype_Ontology:HP:0000447,MedGen:C1853482 1 1 1.0000 condition_record_support_limited 20 0 1 Pear-shaped_nose 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPS1 human_phenotype_ontology_hp_0001634_mondo_mondo_0004910_medgen_c0026267 Mitral valve prolapse Human_Phenotype_Ontology:HP:0001634,MONDO:MONDO:0004910,MedGen:C0026267 1 1 1.0000 condition_record_support_limited 20 0 1 Mitral_valve_prolapse 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPS1 human_phenotype_ontology_hp_0000974_human_phenotype_ontology_hp_0007389_human_phenotype_ontology_hp_0007493_human_phenotype_ontology_hp_0007578_medgen_c0241074 Hyperextensible skin Human_Phenotype_Ontology:HP:0000974,Human_Phenotype_Ontology:HP:0007389,Human_Phenotype_Ontology:HP:0007493,Human_Phenotype_Ontology:HP:0007578,MedGen:C0241074 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperextensible_skin 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPS1 human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 1.0000 condition_record_support_limited 20 0 1 Craniosynostosis_syndrome 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPS1 mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_anomaly_of_kidney_and_urinary_tract 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPS1 human_phenotype_ontology_hp_0001156_human_phenotype_ontology_hp_0001189_human_phenotype_ontology_hp_0001201_human_phenotype_ontology_hp_0005630_human_phenotype_ontology_hp_0005657_human_phenotype_ontology_hp_0005727_human_phenotype_ontology_hp_0006017_human_phenotype_ontology_hp_0006128_human_phenotype_ontology_hp_0100667_mondo_mondo_0021004_medgen_c0221357 Brachydactyly Human_Phenotype_Ontology:HP:0001156,Human_Phenotype_Ontology:HP:0001189,Human_Phenotype_Ontology:HP:0001201,Human_Phenotype_Ontology:HP:0005630,Human_Phenotype_Ontology:HP:0005657,Human_Phenotype_Ontology:HP:0005727,Human_Phenotype_Ontology:HP:0006017,Human_Phenotype_Ontology:HP:0006128,Human_Phenotype_Ontology:HP:0100667,MONDO:MONDO:0021004,MedGen:C0221357 1 1 1.0000 condition_record_support_limited 20 0 1 Brachydactyly 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPS1 mondo_mondo_0005340_medgen_c0002171 Alopecia areata MONDO:MONDO:0005340,MedGen:C0002171 1 1 1.0000 condition_record_support_limited 20 0 1 Alopecia_areata 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPS1 human_phenotype_ontology_hp_0001610_human_phenotype_ontology_hp_0001620_human_phenotype_ontology_hp_0008374_human_phenotype_ontology_hp_0008377_human_phenotype_ontology_hp_0008378_human_phenotype_ontology_hp_0008379_human_phenotype_ontology_hp_0009146_medgen_c0241703 Abnormally high-pitched voice Human_Phenotype_Ontology:HP:0001610,Human_Phenotype_Ontology:HP:0001620,Human_Phenotype_Ontology:HP:0008374,Human_Phenotype_Ontology:HP:0008377,Human_Phenotype_Ontology:HP:0008378,Human_Phenotype_Ontology:HP:0008379,Human_Phenotype_Ontology:HP:0009146,MedGen:C0241703 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormally_high-pitched_voice 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPM6 human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Rod-cone dystrophy Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 1 1 1.0000 condition_record_support_limited 20 0 1 Rod-cone_dystrophy 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRPM6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRPM6 human_phenotype_ontology_hp_0002917_human_phenotype_ontology_hp_0003284_mondo_mondo_0018100_medgen_c0151723_omim_ps602014 Hypomagnesemia Human_Phenotype_Ontology:HP:0002917,Human_Phenotype_Ontology:HP:0003284,MONDO:MONDO:0018100,MedGen:C0151723,OMIM:PS602014 1 1 1.0000 condition_record_support_limited 20 0 1 Hypomagnesemia 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRPM6 mondo_mondo_0010967_medgen_c1832978_omim_600974_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 7 MONDO:MONDO:0010967,MedGen:C1832978,OMIM:600974,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_nonsyndromic_hearing_loss_7 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRPM6 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_eye 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRPM4 trpm4_related_disorder TRPM4-related disorder MedGen:CN239424 1 1 1.0000 condition_record_support_limited 20 0 1 TRPM4-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene TRPM4 exertional_heat_illness Exertional Heat Illness . 1 1 1.0000 condition_record_support_limited 20 0 0 Exertional_Heat_Illness 7 low_record_burden_interpretation_limited low_record_burden_gene TRPM4 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 7 low_record_burden_interpretation_limited low_record_burden_gene TRPM3 trpm3_related_disorder TRPM3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TRPM3-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene TRPM3 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 8 low_record_burden_interpretation_limited low_record_burden_gene TRPM3 mondo_mondo_0009664_medgen_c0524582_omim_253250_orphanet_2576 Mulibrey nanism syndrome MONDO:MONDO:0009664,MedGen:C0524582,OMIM:253250,Orphanet:2576 1 1 1.0000 condition_record_support_limited 20 0 1 Mulibrey_nanism_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene TRPM3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 8 low_record_burden_interpretation_limited low_record_burden_gene TRPM3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 8 low_record_burden_interpretation_limited low_record_burden_gene TRPM3 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 8 low_record_burden_interpretation_limited low_record_burden_gene TRPM3 mondo_mondo_0014747_medgen_c4225493_omim_616722_orphanet_488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome MONDO:MONDO:0014747,MedGen:C4225493,OMIM:616722,Orphanet:488197 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_progressive_retinal_dystrophy-iris_coloboma-congenital_cataract_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene TRPM3 mondo_mondo_0012856_medgen_c2676770_omim_612292_orphanet_166108 Birk-Barel syndrome MONDO:MONDO:0012856,MedGen:C2676770,OMIM:612292,Orphanet:166108 1 1 1.0000 condition_record_support_limited 20 0 1 Birk-Barel_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene TRPM3 mondo_mondo_0015802_medgen_c5680502_orphanet_178469 Autosomal dominant non-syndromic intellectual disability MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_non-syndromic_intellectual_disability 8 low_record_burden_interpretation_limited low_record_burden_gene TRPM1 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPM1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPM1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPC6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPC6 human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 1.0000 condition_record_support_limited 20 0 0 Focal_segmental_glomerulosclerosis 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRPC4 mondo_mondo_0020836_medgen_cn301178_omim_ps209850 Autism, susceptiblity to MONDO:MONDO:0020836,MedGen:CN301178,OMIM:PS209850 1 1 1.0000 condition_record_support_limited 20 0 0 Autism,_susceptiblity_to 1 low_record_burden_interpretation_limited low_record_burden_gene TRPC3 mondo_mondo_0014626_medgen_c4225158_omim_616410_orphanet_458798 Spinocerebellar ataxia type 41 MONDO:MONDO:0014626,MedGen:C4225158,OMIM:616410,Orphanet:458798 1 1 1.0000 condition_record_support_limited 20 0 0 Spinocerebellar_ataxia_type_41 1 low_record_burden_interpretation_limited low_record_burden_gene TRPA1 mondo_mondo_0014021_medgen_c3808667_omim_615040_orphanet_391384_orphanet_391389 Familial episodic pain syndrome with predominantly upper body involvement MONDO:MONDO:0014021,MedGen:C3808667,OMIM:615040,Orphanet:391384,Orphanet:391389 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_episodic_pain_syndrome_with_predominantly_upper_body_involvement 1 low_record_burden_interpretation_limited low_record_burden_gene TRNT1 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRNT1 mondo_mondo_0011828_medgen_c1843942_omim_607417_orphanet_88616 Intellectual disability, autosomal recessive 2 MONDO:MONDO:0011828,MedGen:C1843942,OMIM:607417,Orphanet:88616 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_autosomal_recessive_2 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRNT1 mondo_mondo_0033366_medgen_c4540411_omim_617771 Developmental and epileptic encephalopathy, 57 MONDO:MONDO:0033366,MedGen:C4540411,OMIM:617771 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_57 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRMT61A mondo_mondo_0016033_medgen_c0270972_omim_ps122470_orphanet_199 De Lange syndrome MONDO:MONDO:0016033,MedGen:C0270972,OMIM:PS122470,Orphanet:199 1 1 1.0000 condition_record_support_limited 20 0 0 De_Lange_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene TRMT10C mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_disease 1 low_record_burden_interpretation_limited low_record_burden_gene TRMT10C mondo_mondo_0014856_medgen_c5567605_omim_616974_orphanet_478042 Combined oxidative phosphorylation defect type 30 MONDO:MONDO:0014856,MedGen:C5567605,OMIM:616974,Orphanet:478042 1 1 1.0000 condition_record_support_limited 20 0 1 Combined_oxidative_phosphorylation_defect_type_30 1 low_record_burden_interpretation_limited low_record_burden_gene TRMT10A human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIT1 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_disease 17 low_record_burden_interpretation_limited low_record_burden_gene TRIT1 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 1 Epileptic_encephalopathy 17 low_record_burden_interpretation_limited low_record_burden_gene TRIP12 trip12_associated_autism_with_facial_dysmorphology TRIP12 associated autism with facial dysmorphology . 1 1 1.0000 condition_record_support_limited 20 0 0 TRIP12_associated_autism_with_facial_dysmorphology 98 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRIP12 mondo_mondo_0100024_medgen_cn322666 Self-limited familial infantile epilepsy MONDO:MONDO:0100024,MedGen:CN322666 1 1 1.0000 condition_record_support_limited 20 0 0 Self-limited_familial_infantile_epilepsy 98 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRIP12 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 98 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRIP11 mondo_mondo_1040009_medgen_cn378136 TRIP11-related skeletal dysplasia MONDO:MONDO:1040009,MedGen:CN378136 1 1 1.0000 condition_record_support_limited 20 0 0 TRIP11-related_skeletal_dysplasia 87 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRIP11 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 87 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRIOBP human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 0 Hearing_impairment 100 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TRIO human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 1.0000 condition_record_support_limited 20 0 0 Tip-toe_gait 175 large_gene_or_donor_burden_stress_case donor_burden_stress TRIO human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 175 large_gene_or_donor_burden_stress_case donor_burden_stress TRIO human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 0 Microcephaly 175 large_gene_or_donor_burden_stress_case donor_burden_stress TRIO medgen_c0011053 Deafness MedGen:C0011053 1 1 1.0000 condition_record_support_limited 20 0 0 Deafness 175 large_gene_or_donor_burden_stress_case donor_burden_stress TRIM8 trim8_related_epileptic_encephalopathy TRIM8-related epileptic encephalopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 TRIM8-related_epileptic_encephalopathy 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIM8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIM71 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene TRIM71 trim71_related_disorder TRIM71-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 TRIM71-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene TRIM71 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 1.0000 condition_record_support_limited 20 0 0 Non-obstructive_azoospermia 7 low_record_burden_interpretation_limited low_record_burden_gene TRIM71 mondo_mondo_0016349_medgen_c0020256_omim_ps236600_orphanet_2185 Congenital hydrocephalus MONDO:MONDO:0016349,MedGen:C0020256,OMIM:PS236600,Orphanet:2185 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_hydrocephalus 7 low_record_burden_interpretation_limited low_record_burden_gene TRIM63 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 5 low_record_burden_interpretation_limited low_record_burden_gene TRIM63 mondo_mondo_0005110_mesh_d009202_medgen_c0033141 Idiopathic cardiomyopathy MONDO:MONDO:0005110,MeSH:D009202,MedGen:C0033141 1 1 1.0000 condition_record_support_limited 20 0 0 Idiopathic_cardiomyopathy 5 low_record_burden_interpretation_limited low_record_burden_gene TRIM63 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrophic_cardiomyopathy 5 low_record_burden_interpretation_limited low_record_burden_gene TRIM63 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 0 Cardiovascular_phenotype 5 low_record_burden_interpretation_limited low_record_burden_gene TRIM37 trim37_related_disorder TRIM37-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TRIM37-related_disorder 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIM36 human_phenotype_ontology_hp_0002323_mondo_mondo_0000819_medgen_c0002902_omim_ps206500 Anencephaly Human_Phenotype_Ontology:HP:0002323,MONDO:MONDO:0000819,MedGen:C0002902,OMIM:PS206500 1 1 1.0000 condition_record_support_limited 20 0 0 Anencephaly 1 low_record_burden_interpretation_limited low_record_burden_gene TRIM33 mondo_mondo_0979872_medgen_cn379784_omim_621311 Developmental dysplasia of the hip 4 MONDO:MONDO:0979872,MedGen:CN379784,OMIM:621311 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_dysplasia_of_the_hip_4 2 low_record_burden_interpretation_limited low_record_burden_gene TRIM33 human_phenotype_ontology_hp_0001385_human_phenotype_ontology_hp_0008787_mondo_mondo_0000158_medgen_c4551649_omim_ps142700 Developmental dysplasia of the hip Human_Phenotype_Ontology:HP:0001385,Human_Phenotype_Ontology:HP:0008787,MONDO:MONDO:0000158,MedGen:C4551649,OMIM:PS142700 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_dysplasia_of_the_hip 2 low_record_burden_interpretation_limited low_record_burden_gene TRIM32 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIM32 human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 1.0000 condition_record_support_limited 20 0 1 Myopathy 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIM32 human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Limb-girdle muscular dystrophy Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 1.0000 condition_record_support_limited 20 0 1 Limb-girdle_muscular_dystrophy 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIM32 human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Elevated circulating creatine kinase concentration Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 1 1 1.0000 condition_record_support_limited 20 0 0 Elevated_circulating_creatine_kinase_concentration 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIM32 autosomal_recessive_trim32_related_disorders Autosomal recessive TRIM32-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_TRIM32-related_disorders 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRIM28 human_phenotype_ontology_hp_0000115_human_phenotype_ontology_hp_0002667_mondo_mondo_0006058_mesh_d009396_medgen_c0027708_orphanet_654 Nephroblastoma Human_Phenotype_Ontology:HP:0000115,Human_Phenotype_Ontology:HP:0002667,MONDO:MONDO:0006058,MeSH:D009396,MedGen:C0027708,Orphanet:654 1 1 1.0000 condition_record_support_limited 20 0 0 Nephroblastoma 12 low_record_burden_interpretation_limited low_record_burden_gene TRIM24 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 1 low_record_burden_interpretation_limited low_record_burden_gene TRIM2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene TREX1 mondo_mondo_0019737_mesh_d057049_medgen_c2717961_orphanet_93573 Thrombotic microangiopathy MONDO:MONDO:0019737,MeSH:D057049,MedGen:C2717961,Orphanet:93573 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombotic_microangiopathy 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TREX1 medgen_c3862275 Systemic lupus erythematosus, susceptibility to MedGen:C3862275 1 1 1.0000 condition_record_support_limited 20 0 1 Systemic_lupus_erythematosus,_susceptibility_to 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TREX1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TREX1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TREX1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TREX1 mondo_mondo_0007432_medgen_c0751587_omim_ps125310 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy MONDO:MONDO:0007432,MedGen:C0751587,OMIM:PS125310 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TREX1 mondo_mondo_0018866_medgen_c0393591_omim_ps225750_orphanet_51 Aicardi Goutieres syndrome MONDO:MONDO:0018866,MedGen:C0393591,OMIM:PS225750,Orphanet:51 1 1 1.0000 condition_record_support_limited 20 0 1 Aicardi_Goutieres_syndrome 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TREX1 adult_onset_neurodegenerative_disorder Adult onset neurodegenerative disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 Adult_onset_neurodegenerative_disorder 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TREM2 trem2_related_disorder TREM2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TREM2-related_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TREM2 mondo_mondo_0009092_medgen_c1857316_omim_ps221770_orphanet_2770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly MONDO:MONDO:0009092,MedGen:C1857316,OMIM:PS221770,Orphanet:2770 1 1 1.0000 condition_record_support_limited 20 0 1 Polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephaly 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TREM2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TREM2 human_phenotype_ontology_hp_0002145_mondo_mondo_0017276_medgen_c0338451_omim_600274_orphanet_282 Frontotemporal dementia Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282 1 1 1.0000 condition_record_support_limited 20 0 0 Frontotemporal_dementia 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC9 mondo_mondo_0018123_medgen_c4706414_orphanet_352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome MONDO:MONDO:0018123,MedGen:C4706414,Orphanet:352530 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability-obesity-brain_malformations-facial_dysmorphism_syndrome 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC9 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC9 mondo_mondo_0019502_medgen_c5680181_omim_ps249500_orphanet_88616 Autosomal recessive non-syndromic intellectual disability MONDO:MONDO:0019502,MedGen:C5680181,OMIM:PS249500,Orphanet:88616 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_non-syndromic_intellectual_disability 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC9 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC6B trappc6b_related_neurodevelopmental_disorder TRAPPC6B-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TRAPPC6B-related_neurodevelopmental_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene TRAPPC6B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene TRAPPC4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene TRAPPC4 mondo_mondo_0060502_medgen_c4479631_omim_617527_orphanet_521426 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies MONDO:MONDO:0060502,MedGen:C4479631,OMIM:617527,Orphanet:521426 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_progressive_microcephaly,_spasticity,_and_brain_anomalies 4 low_record_burden_interpretation_limited low_record_burden_gene TRAPPC3 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 1.0000 condition_record_support_limited 20 0 0 Bardet-Biedl_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene TRAPPC2L mondo_mondo_0007846_medgen_c0220687_omim_148050_orphanet_2332 KBG syndrome MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332 1 1 1.0000 condition_record_support_limited 20 0 1 KBG_syndrome 23 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture TRAPPC2L mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 23 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture TRAPPC2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC2 mondo_mondo_0008438_medgen_c1866855_omim_182601_orphanet_100985 Hereditary spastic paraplegia 4 MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601,Orphanet:100985 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia_4 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC2 mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 1 1 1.0000 condition_record_support_limited 20 0 1 Connective_tissue_disorder 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC14 mondo_mondo_0032694_medgen_c5193046_omim_618351 Microcephaly 25, primary, autosomal recessive MONDO:MONDO:0032694,MedGen:C5193046,OMIM:618351 1 1 1.0000 condition_record_support_limited 20 0 0 Microcephaly_25,_primary,_autosomal_recessive 1 low_record_burden_interpretation_limited low_record_burden_gene TRAPPC12 human_phenotype_ontology_hp_0006882_medgen_c3278123 Severe hydrocephalus Human_Phenotype_Ontology:HP:0006882,MedGen:C3278123 1 1 1.0000 condition_record_support_limited 20 0 0 Severe_hydrocephalus 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC11 trappc11_related_disorder TRAPPC11-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 TRAPPC11-related_disorder 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC11 human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Muscular dystrophy Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 1 1 1.0000 condition_record_support_limited 20 0 1 Muscular_dystrophy 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAPPC10 trappopathy_microcephalic TRAPPopathy microcephalic . 1 1 1.0000 condition_record_support_limited 20 0 0 TRAPPopathy_microcephalic 6 low_record_burden_interpretation_limited low_record_burden_gene TRAPPC10 neurodevelopmental_disorder_with_microcephaly_short_stature_speech_delay_and_behavioral_abnormalities NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, SPEECH DELAY, AND BEHAVIORAL ABNORMALITIES . 1 1 1.0000 condition_record_support_limited 20 0 0 NEURODEVELOPMENTAL_DISORDER_WITH_MICROCEPHALY,_SHORT_STATURE,_SPEECH_DELAY,_AND_BEHAVIORAL_ABNORMALITIES 6 low_record_burden_interpretation_limited low_record_burden_gene TRAPPC10 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 6 low_record_burden_interpretation_limited low_record_burden_gene TRAP1 gene_100034704_mondo_mondo_0012561_medgen_c1835826_omim_610805 Congenital anomalies of kidney and urinary tract 1 Gene:100034704,MONDO:MONDO:0012561,MedGen:C1835826,OMIM:610805 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_anomalies_of_kidney_and_urinary_tract_1 1 low_record_burden_interpretation_limited low_record_burden_gene TRAK1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 8 low_record_burden_interpretation_limited low_record_burden_gene TRAF7 traf7_related_syndrome TRAF7-related syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 TRAF7-related_syndrome 19 low_record_burden_interpretation_limited low_record_burden_gene TRAF7 mondo_mondo_0035661_medgen_c5681633_orphanet_592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome MONDO:MONDO:0035661,MedGen:C5681633,Orphanet:592570 1 1 1.0000 condition_record_support_limited 20 0 1 TRAF7-associated_heart_defect-digital_anomalies-facial_dysmorphism-motor_and_speech_delay_syndrome 19 low_record_burden_interpretation_limited low_record_burden_gene TRAF7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 19 low_record_burden_interpretation_limited low_record_burden_gene TRAF5 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 1 low_record_burden_interpretation_limited low_record_burden_gene TRAF3IP2 mondo_mondo_0013554_medgen_c3279754_omim_614070 Psoriasis 13, susceptibility to MONDO:MONDO:0013554,MedGen:C3279754,OMIM:614070 1 1 1.0000 condition_record_support_limited 20 0 0 Psoriasis_13,_susceptibility_to 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAF3IP2 human_phenotype_ontology_hp_0000981_human_phenotype_ontology_hp_0007417_mondo_mondo_0019558_medgen_c5574816_orphanet_90281 Discoid lupus erythematosus Human_Phenotype_Ontology:HP:0000981,Human_Phenotype_Ontology:HP:0007417,MONDO:MONDO:0019558,MedGen:C5574816,Orphanet:90281 1 1 1.0000 condition_record_support_limited 20 0 0 Discoid_lupus_erythematosus 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAF3IP1 traf3ip1_related_disorder TRAF3IP1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TRAF3IP1-related_disorder 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TRAF3 traf3_related_disorder TRAF3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TRAF3-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene TRAF3 mondo_mondo_0100513_medgen_cn372338 TRAF3 haploinsufficiency MONDO:MONDO:0100513,MedGen:CN372338 1 1 1.0000 condition_record_support_limited 20 0 0 TRAF3_haploinsufficiency 4 low_record_burden_interpretation_limited low_record_burden_gene TRAF3 mondo_mondo_0013920_medgen_c3553868_omim_614849_orphanet_1930 Herpes simplex encephalitis, susceptibility to, 3 MONDO:MONDO:0013920,MedGen:C3553868,OMIM:614849,Orphanet:1930 1 1 1.0000 condition_record_support_limited 20 0 1 Herpes_simplex_encephalitis,_susceptibility_to,_3 4 low_record_burden_interpretation_limited low_record_burden_gene TRA2B tra2b_related_condition TRA2B-related condition . 1 1 1.0000 condition_record_support_limited 20 0 0 TRA2B-related_condition 6 low_record_burden_interpretation_limited low_record_burden_gene TRA2B tra2b_associated_epileptic_encephalopathy TRA2B-associated epileptic encephalopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 TRA2B-associated_epileptic_encephalopathy 6 low_record_burden_interpretation_limited low_record_burden_gene TPRN tprn_related_disorder TPRN-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TPRN-related_disorder 33 compact_adjacent_exon_block_opportunity local_compact_architecture TPRN mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive 33 compact_adjacent_exon_block_opportunity local_compact_architecture TPRN human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 1.0000 condition_record_support_limited 20 0 1 Ear_malformation 33 compact_adjacent_exon_block_opportunity local_compact_architecture TPP2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene TPP2 human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombocytopenia 19 low_record_burden_interpretation_limited low_record_burden_gene TPP2 human_phenotype_ontology_hp_0001740_human_phenotype_ontology_hp_0002784_human_phenotype_ontology_hp_0002788_medgen_c0581381 Recurrent upper respiratory tract infections Human_Phenotype_Ontology:HP:0001740,Human_Phenotype_Ontology:HP:0002784,Human_Phenotype_Ontology:HP:0002788,MedGen:C0581381 1 1 1.0000 condition_record_support_limited 20 0 1 Recurrent_upper_respiratory_tract_infections 19 low_record_burden_interpretation_limited low_record_burden_gene TPP2 human_phenotype_ontology_hp_0002783_human_phenotype_ontology_hp_0004884_human_phenotype_ontology_hp_0005955_medgen_c3163798 Recurrent lower respiratory tract infections Human_Phenotype_Ontology:HP:0002783,Human_Phenotype_Ontology:HP:0004884,Human_Phenotype_Ontology:HP:0005955,MedGen:C3163798 1 1 1.0000 condition_record_support_limited 20 0 1 Recurrent_lower_respiratory_tract_infections 19 low_record_burden_interpretation_limited low_record_burden_gene TPP2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 19 low_record_burden_interpretation_limited low_record_burden_gene TPP2 human_phenotype_ontology_hp_0000965_human_phenotype_ontology_hp_0001037_medgen_c0263401 Cutis marmorata Human_Phenotype_Ontology:HP:0000965,Human_Phenotype_Ontology:HP:0001037,MedGen:C0263401 1 1 1.0000 condition_record_support_limited 20 0 1 Cutis_marmorata 19 low_record_burden_interpretation_limited low_record_burden_gene TPP2 human_phenotype_ontology_hp_0000371_medgen_c0271429 Acute otitis media Human_Phenotype_Ontology:HP:0000371,MedGen:C0271429 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_otitis_media 19 low_record_burden_interpretation_limited low_record_burden_gene TPP1 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 221 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPP1 mondo_mondo_0019262_medgen_cn293564_orphanet_79264 Juvenile neuronal ceroid lipofuscinosis MONDO:MONDO:0019262,MedGen:CN293564,Orphanet:79264 1 1 1.0000 condition_record_support_limited 20 0 1 Juvenile_neuronal_ceroid_lipofuscinosis 221 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPP1 mondo_mondo_0007113_medgen_c0162635_omim_105830_orphanet_72 Angelman syndrome MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:72 1 1 1.0000 condition_record_support_limited 20 0 1 Angelman_syndrome 221 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPO human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPO human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPO human_phenotype_ontology_hp_0010808_medgen_c0241442 Protruding tongue Human_Phenotype_Ontology:HP:0010808,MedGen:C0241442 1 1 1.0000 condition_record_support_limited 20 0 1 Protruding_tongue 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPO mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPO human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPO human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPO human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Delayed gross motor development Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_gross_motor_development 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene TPM3 tpm3_related_core_myopathy TPM3-related core myopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 TPM3-related_core_myopathy 35 compact_adjacent_exon_block_opportunity local_compact_architecture TPM3 mondo_mondo_0018958_medgen_c0206157_omim_ps161800_orphanet_607 Nemaline myopathy MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607 1 1 1.0000 condition_record_support_limited 20 0 1 Nemaline_myopathy 35 compact_adjacent_exon_block_opportunity local_compact_architecture TPM3 human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 1.0000 condition_record_support_limited 20 0 0 Myopathy 35 compact_adjacent_exon_block_opportunity local_compact_architecture TPM3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 35 compact_adjacent_exon_block_opportunity local_compact_architecture TPM2 mondo_mondo_0100196_medgen_cn294818 TPM2-related myopathy MONDO:MONDO:0100196,MedGen:CN294818 1 1 1.0000 condition_record_support_limited 20 0 1 TPM2-related_myopathy 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM2 medgen_c2750413 TPM2-related cap myopathy MedGen:C2750413 1 1 1.0000 condition_record_support_limited 20 0 1 TPM2-related_cap_myopathy 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM2 mondo_mondo_0018958_medgen_c0206157_omim_ps161800_orphanet_607 Nemaline myopathy MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607 1 1 1.0000 condition_record_support_limited 20 0 0 Nemaline_myopathy 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM2 mondo_mondo_0020820_medgen_c5193014_omim_601680_orphanet_1147 Distal arthrogryposis type 2B1 MONDO:MONDO:0020820,MedGen:C5193014,OMIM:601680,Orphanet:1147 1 1 1.0000 condition_record_support_limited 20 0 0 Distal_arthrogryposis_type_2B1 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM2 mondo_mondo_0008779_medgen_c0003886 Arthrogryposis MONDO:MONDO:0008779,MedGen:C0003886 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM1 mondo_mondo_0009931_medgen_c0344975_omim_265150_orphanet_1208 Pulmonary atresia with intact ventricular septum MONDO:MONDO:0009931,MedGen:C0344975,OMIM:265150,Orphanet:1208 1 1 1.0000 condition_record_support_limited 20 0 0 Pulmonary_atresia_with_intact_ventricular_septum 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM1 mondo_mondo_0008647_medgen_c3495498_omim_192600 Hypertrophic cardiomyopathy 1 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 1 1 1.0000 condition_record_support_limited 20 0 0 Hypertrophic_cardiomyopathy_1 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM1 mondo_mondo_0005217_medgen_c0264789 Familial cardiomyopathy MONDO:MONDO:0005217,MedGen:C0264789 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_cardiomyopathy 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM1 human_phenotype_ontology_hp_0004758_medgen_c4025298 Effort-induced polymorphic ventricular tachycardia Human_Phenotype_Ontology:HP:0004758,MedGen:C4025298 1 1 1.0000 condition_record_support_limited 20 0 0 Effort-induced_polymorphic_ventricular_tachycardia 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPM1 mondo_mondo_0007172_medgen_c1862389_omim_108800_orphanet_1478 Atrial septal defect 1 MONDO:MONDO:0007172,MedGen:C1862389,OMIM:108800,Orphanet:1478 1 1 1.0000 condition_record_support_limited 20 0 0 Atrial_septal_defect_1 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPK1 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 1 1 1.0000 condition_record_support_limited 20 0 1 Leigh_syndrome 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TPCN2 medgen_c2677088_omim_612267 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10 MedGen:C2677088,OMIM:612267 1 1 1.0000 condition_record_support_limited 20 0 0 SKIN/HAIR/EYE_PIGMENTATION,_VARIATION_IN,_10 1 low_record_burden_interpretation_limited low_record_burden_gene TP73 human_phenotype_ontology_hp_0002878_human_phenotype_ontology_hp_0004877_mondo_mondo_0021113_medgen_c1145670 Respiratory failure Human_Phenotype_Ontology:HP:0002878,Human_Phenotype_Ontology:HP:0004877,MONDO:MONDO:0021113,MedGen:C1145670 1 1 1.0000 condition_record_support_limited 20 0 1 Respiratory_failure 5 low_record_burden_interpretation_limited low_record_burden_gene TP63 mondo_mondo_1040001_medgen_cn378757 TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations MONDO:MONDO:1040001,MedGen:CN378757 1 1 1.0000 condition_record_support_limited 20 0 0 TP63-related_ectodermal_dysplasia_spectrum_with_limb_and_orofacial_malformations 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP63 medgen_c5681167_orphanet_399775 Male infertility with spermatogenesis disorder MedGen:C5681167,Orphanet:399775 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_spermatogenesis_disorder 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP63 human_phenotype_ontology_hp_0000221_medgen_c0040412 Furrowed tongue Human_Phenotype_Ontology:HP:0000221,MedGen:C0040412 1 1 1.0000 condition_record_support_limited 20 0 0 Furrowed_tongue 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP63 human_phenotype_ontology_hp_0000968_human_phenotype_ontology_hp_0007436_human_phenotype_ontology_hp_0007615_mondo_mondo_0019287_medgen_c0013575_omim_ps305100_orphanet_79373 Ectodermal dysplasia Human_Phenotype_Ontology:HP:0000968,Human_Phenotype_Ontology:HP:0007436,Human_Phenotype_Ontology:HP:0007615,MONDO:MONDO:0019287,MedGen:C0013575,OMIM:PS305100,Orphanet:79373 1 1 1.0000 condition_record_support_limited 20 0 0 Ectodermal_dysplasia 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP63 mondo_mondo_0021944_medgen_c1852271_omim_ps609129 Auditory neuropathy MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 1 1 1.0000 condition_record_support_limited 20 0 0 Auditory_neuropathy 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TP53RK human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 9 low_record_burden_interpretation_limited low_record_burden_gene TP53BP1 tubgcp4_related_disorder TUBGCP4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TUBGCP4-related_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene TP53BP1 mondo_mondo_0014592_medgen_c4225362_omim_616335 Microcephaly and chorioretinopathy 3 MONDO:MONDO:0014592,MedGen:C4225362,OMIM:616335 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly_and_chorioretinopathy_3 5 low_record_burden_interpretation_limited low_record_burden_gene TP53BP1 medgen_c3502492_orphanet_2518 Autosomal recessive chorioretinopathy-microcephaly syndrome MedGen:C3502492,Orphanet:2518 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_chorioretinopathy-microcephaly_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene TP53 human_phenotype_ontology_hp_0011779_mondo_mondo_0006468_mesh_d065646_medgen_c0238461_orphanet_142 Thyroid gland undifferentiated (anaplastic) carcinoma Human_Phenotype_Ontology:HP:0011779,MONDO:MONDO:0006468,MeSH:D065646,MedGen:C0238461,Orphanet:142 1 1 1.0000 condition_record_support_limited 20 0 1 Thyroid_gland_undifferentiated_(anaplastic)_carcinoma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 medgen_c4013716 Small cell carcinoma of the ovary, hypercalcemic type MedGen:C4013716 1 1 1.0000 condition_record_support_limited 20 0 0 Small_cell_carcinoma_of_the_ovary,_hypercalcemic_type 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 human_phenotype_ontology_hp_0033682_mondo_mondo_0016690_medgen_c0334586_orphanet_251607 Pleomorphic xanthoastrocytoma Human_Phenotype_Ontology:HP:0033682,MONDO:MONDO:0016690,MedGen:C0334586,Orphanet:251607 1 1 1.0000 condition_record_support_limited 20 0 1 Pleomorphic_xanthoastrocytoma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 1 Ovarian_cancer 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 mondo_mondo_0021067_medgen_c1334655 Mediastinal germ cell tumor MONDO:MONDO:0021067,MedGen:C1334655 1 1 1.0000 condition_record_support_limited 20 0 1 Mediastinal_germ_cell_tumor 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 human_phenotype_ontology_hp_0002665_mondo_mondo_0005062_mesh_d008223_medgen_c0024299_orphanet_223735 Lymphoma Human_Phenotype_Ontology:HP:0002665,MONDO:MONDO:0005062,MeSH:D008223,MedGen:C0024299,Orphanet:223735 1 1 1.0000 condition_record_support_limited 20 0 1 Lymphoma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 mondo_mondo_0006279_medgen_c1708781 Lung sarcomatoid carcinoma MONDO:MONDO:0006279,MedGen:C1708781 1 1 1.0000 condition_record_support_limited 20 0 1 Lung_sarcomatoid_carcinoma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 human_phenotype_ontology_hp_0002884_mondo_mondo_0018666_medgen_c0206624_orphanet_449 Hepatoblastoma Human_Phenotype_Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624,Orphanet:449 1 1 1.0000 condition_record_support_limited 20 0 1 Hepatoblastoma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 human_phenotype_ontology_hp_0030075_mondo_mondo_0005023_medgen_c0007124 Ductal carcinoma in situ Human_Phenotype_Ontology:HP:0030075,MONDO:MONDO:0005023,MedGen:C0007124 1 1 1.0000 condition_record_support_limited 20 0 1 Ductal_carcinoma_in_situ 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 mondo_mondo_0858939_medgen_c5669918 Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype MONDO:MONDO:0858939,MedGen:C5669918 1 1 1.0000 condition_record_support_limited 20 0 1 Diffuse_pediatric-type_high-grade_glioma,_H3-wildtype_and_IDH-wildtype 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 mondo_mondo_0004557_medgen_c0334459 Congenital fibrosarcoma MONDO:MONDO:0004557,MedGen:C0334459 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_fibrosarcoma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 human_phenotype_ontology_hp_0002253_human_phenotype_ontology_hp_0005860_medgen_c0012819 Colonic diverticula Human_Phenotype_Ontology:HP:0002253,Human_Phenotype_Ontology:HP:0005860,MedGen:C0012819 1 1 1.0000 condition_record_support_limited 20 0 1 Colonic_diverticula 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 human_phenotype_ontology_hp_0030079_mondo_mondo_0002974_medgen_c4048328_omim_603956 Cervical cancer Human_Phenotype_Ontology:HP:0030079,MONDO:MONDO:0002974,MedGen:C4048328,OMIM:603956 1 1 1.0000 condition_record_support_limited 20 0 1 Cervical_cancer 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 1 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 0 Breast-ovarian_cancer,_familial,_susceptibility_to,_1 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 human_phenotype_ontology_hp_0034401_mondo_mondo_0020560_medgen_c1266184_orphanet_99966 Atypical teratoid rhabdoid tumor Human_Phenotype_Ontology:HP:0034401,MONDO:MONDO:0020560,MedGen:C1266184,Orphanet:99966 1 1 1.0000 condition_record_support_limited 20 0 1 Atypical_teratoid_rhabdoid_tumor 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 mondo_mondo_0016709_medgen_c4330531_orphanet_251855 Anaplastic/large cell medulloblastoma MONDO:MONDO:0016709,MedGen:C4330531,Orphanet:251855 1 1 1.0000 condition_record_support_limited 20 0 1 Anaplastic/large_cell_medulloblastoma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 mondo_mondo_0004970_medgen_c0001418 Adenocarcinoma MONDO:MONDO:0004970,MedGen:C0001418 1 1 1.0000 condition_record_support_limited 20 0 1 Adenocarcinoma 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TP53 human_phenotype_ontology_hp_0006733_mondo_mondo_0018872_mesh_d007947_medgen_c0023462_orphanet_518 Acute megakaryoblastic leukemia Human_Phenotype_Ontology:HP:0006733,MONDO:MONDO:0018872,MeSH:D007947,MedGen:C0023462,Orphanet:518 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_megakaryoblastic_leukemia 1116 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control TOR1AIP2 mondo_mondo_0014900_medgen_c4511482_omim_617072_orphanet_424261 Autosomal recessive limb-girdle muscular dystrophy type 2Y MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Y 1 low_record_burden_interpretation_limited low_record_burden_gene TOR1AIP1 tor1aip1_related_disorder TOR1AIP1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 TOR1AIP1-related_disorder 30 compact_adjacent_exon_block_opportunity local_compact_architecture TOR1AIP1 mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 Centronuclear myopathy MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 1 1 1.0000 condition_record_support_limited 20 0 0 Centronuclear_myopathy 30 compact_adjacent_exon_block_opportunity local_compact_architecture TOR1AIP1 autosomal_recessive_tor1aip1_related_disorders Autosomal recessive TOR1AIP1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_TOR1AIP1-related_disorders 30 compact_adjacent_exon_block_opportunity local_compact_architecture TOPORS mondo_mondo_0700233_medgen_cn375908 TOPORS-related retinopathy MONDO:MONDO:0700233,MedGen:CN375908 1 1 1.0000 condition_record_support_limited 20 0 0 TOPORS-related_retinopathy 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TOPORS topors_related_disorder TOPORS-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TOPORS-related_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TOP6BL mondo_mondo_0957821_medgen_c5882706_omim_620547 Spermatogenic failure 88 MONDO:MONDO:0957821,MedGen:C5882706,OMIM:620547 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_88 2 low_record_burden_interpretation_limited low_record_burden_gene TOP6BL mondo_mondo_0032747_medgen_c5193094_omim_618432 Hydatidiform mole, recurrent, 4 MONDO:MONDO:0032747,MedGen:C5193094,OMIM:618432 1 1 1.0000 condition_record_support_limited 20 0 0 Hydatidiform_mole,_recurrent,_4 2 low_record_burden_interpretation_limited low_record_burden_gene TOP3A monogenic_short_statue Monogenic short statue . 1 1 1.0000 condition_record_support_limited 20 0 0 Monogenic_short_statue 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TOP3A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TOP2B condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene TOP2B mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene TOP1 medgen_c4016020 DNA topoisomerase I, camptothecin-resistant MedGen:C4016020 1 1 1.0000 condition_record_support_limited 20 0 0 DNA_topoisomerase_I,_camptothecin-resistant 1 low_record_burden_interpretation_limited low_record_burden_gene TONSL susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TONSL skeletal_dysplaisia_with_extra_skeletal_manifestations Skeletal dysplaisia with extra-skeletal manifestations . 1 1 1.0000 condition_record_support_limited 20 0 0 Skeletal_dysplaisia_with_extra-skeletal_manifestations 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TONSL mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TOMT mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 24 compact_adjacent_exon_block_opportunity local_compact_architecture TOM1 mondo_mondo_0030428_medgen_c5561976_omim_619510 Immunodeficiency 85 and autoimmunity MONDO:MONDO:0030428,MedGen:C5561976,OMIM:619510 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_85_and_autoimmunity 1 low_record_burden_interpretation_limited low_record_burden_gene TOGARAM1 mondo_mondo_0005308_medgen_c4277690_orphanet_363250 Ciliopathy MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 1 1 1.0000 condition_record_support_limited 20 0 0 Ciliopathy 14 low_record_burden_interpretation_limited low_record_burden_gene TOE1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 38 compact_adjacent_exon_block_opportunity local_compact_architecture TNXB tnxb_related_hypermobile_ehlers_danlos_syndrome TNXB-related hypermobile Ehlers-Danlos syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 TNXB-related_hypermobile_Ehlers-Danlos_syndrome 142 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TNXB human_phenotype_ontology_hp_0001378_human_phenotype_ontology_hp_0001382_human_phenotype_ontology_hp_0005034_medgen_c1844820 Joint hypermobility Human_Phenotype_Ontology:HP:0001378,Human_Phenotype_Ontology:HP:0001382,Human_Phenotype_Ontology:HP:0005034,MedGen:C1844820 1 1 1.0000 condition_record_support_limited 20 0 1 Joint_hypermobility 142 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TNXB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 142 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TNXB human_phenotype_ontology_hp_0008258_mondo_mondo_0018479_medgen_c0001627_orphanet_418 Congenital adrenal hyperplasia Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_adrenal_hyperplasia 142 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TNRC6B tnrc6b_related_neurodevelopmental_disorder TNRC6B-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TNRC6B-related_neurodevelopmental_disorder 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TNRC6B mondo_mondo_0060596_medgen_c4540327_omim_617755_orphanet_686482 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies MONDO:MONDO:0060596,MedGen:C4540327,OMIM:617755,Orphanet:686482 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_dysmorphic_facies_and_distal_limb_anomalies 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TNRC6B mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TNR condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene TNPO3 mondo_mondo_0015151_medgen_c5675009_omim_ps603511_orphanet_102014 Muscular dystrophy, limb-girdle, autosomal dominant MONDO:MONDO:0015151,MedGen:C5675009,OMIM:PS603511,Orphanet:102014 1 1 1.0000 condition_record_support_limited 20 0 1 Muscular_dystrophy,_limb-girdle,_autosomal_dominant 9 low_record_burden_interpretation_limited low_record_burden_gene TNPO2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene TNPO2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene TNPO2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 16 low_record_burden_interpretation_limited low_record_burden_gene TNNT2 human_phenotype_ontology_hp_0001723_mondo_mondo_0005201_mesh_d002313_medgen_c0007196_orphanet_217632 Restrictive cardiomyopathy Human_Phenotype_Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196,Orphanet:217632 1 1 1.0000 condition_record_support_limited 20 0 1 Restrictive_cardiomyopathy 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNT2 mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 Primary familial dilated cardiomyopathy MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_familial_dilated_cardiomyopathy 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNT2 mondo_mondo_0700335_medgen_c5679590_orphanet_154 Familial isolated dilated cardiomyopathy MONDO:MONDO:0700335,MedGen:C5679590,Orphanet:154 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_isolated_dilated_cardiomyopathy 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNT1 tnnt1_related_disorder TNNT1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TNNT1-related_disorder 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNI3K tnni3k_related_disorder TNNI3K-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TNNI3K-related_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene TNNI3K cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 5 low_record_burden_interpretation_limited low_record_burden_gene TNNI3K medgen_c1832931 Arrhythmogenic right ventricular dysplasia 2 MedGen:C1832931 1 1 1.0000 condition_record_support_limited 20 0 0 Arrhythmogenic_right_ventricular_dysplasia_2 5 low_record_burden_interpretation_limited low_record_burden_gene TNNI3 tnni3_associated_disorder TNNI3-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TNNI3-associated_disorder 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNI3 efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNI3 mondo_mondo_0007268_medgen_c1861862_omim_115197 Hypertrophic cardiomyopathy 4 MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197 1 1 1.0000 condition_record_support_limited 20 0 0 Hypertrophic_cardiomyopathy_4 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNI3 mondo_mondo_0008647_medgen_c3495498_omim_192600 Hypertrophic cardiomyopathy 1 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 1 1 1.0000 condition_record_support_limited 20 0 0 Hypertrophic_cardiomyopathy_1 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNNI2 human_phenotype_ontology_hp_0003049_medgen_c0231678 Ulnar deviation of the wrist Human_Phenotype_Ontology:HP:0003049,MedGen:C0231678 1 1 1.0000 condition_record_support_limited 20 0 1 Ulnar_deviation_of_the_wrist 13 low_record_burden_interpretation_limited low_record_burden_gene TNNI2 tnni2_related_disorder TNNI2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TNNI2-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene TNNI2 human_phenotype_ontology_hp_0005684_mondo_mondo_0019942_medgen_c0265213_omim_ps108120_orphanet_97120 Distal arthrogryposis Human_Phenotype_Ontology:HP:0005684,MONDO:MONDO:0019942,MedGen:C0265213,OMIM:PS108120,Orphanet:97120 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_arthrogryposis 13 low_record_burden_interpretation_limited low_record_burden_gene TNNI2 human_phenotype_ontology_hp_0005879_medgen_c1393871 Congenital finger flexion contractures Human_Phenotype_Ontology:HP:0005879,MedGen:C1393871 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_finger_flexion_contractures 13 low_record_burden_interpretation_limited low_record_burden_gene TNNI2 human_phenotype_ontology_hp_0001774_human_phenotype_ontology_hp_0001848_human_phenotype_ontology_hp_0008120_medgen_c1860450 Calcaneovalgus deformity Human_Phenotype_Ontology:HP:0001774,Human_Phenotype_Ontology:HP:0001848,Human_Phenotype_Ontology:HP:0008120,MedGen:C1860450 1 1 1.0000 condition_record_support_limited 20 0 1 Calcaneovalgus_deformity 13 low_record_burden_interpretation_limited low_record_burden_gene TNNC1 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrophic_cardiomyopathy 12 low_record_burden_interpretation_limited low_record_burden_gene TNNC1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 12 low_record_burden_interpretation_limited low_record_burden_gene TNNC1 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy 12 low_record_burden_interpretation_limited low_record_burden_gene TNK2 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 0 Epileptic_encephalopathy 1 low_record_burden_interpretation_limited low_record_burden_gene TNIK mondo_mondo_0014876_medgen_c4310755_omim_617028_orphanet_88616 Intellectual disability, autosomal recessive 54 MONDO:MONDO:0014876,MedGen:C4310755,OMIM:617028,Orphanet:88616 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_autosomal_recessive_54 1 low_record_burden_interpretation_limited low_record_burden_gene TNFSF13 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene TNFRSF9 tnfrsf9_related_disorder TNFRSF9-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TNFRSF9-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene TNFRSF1A tnfrsf1a_related_disorder TNFRSF1A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TNFRSF1A-related_disorder 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNFRSF1A mondo_mondo_0005301_medgen_c0026769 Multiple sclerosis MONDO:MONDO:0005301,MedGen:C0026769 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_sclerosis 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNFRSF1A mondo_mondo_0008965_medgen_c0265354_orphanet_138 CHARGE syndrome MONDO:MONDO:0008965,MedGen:C0265354,Orphanet:138 1 1 1.0000 condition_record_support_limited 20 0 0 CHARGE_syndrome 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNFRSF1A mondo_mondo_0007191_medgen_c0004943_omim_109650_orphanet_117 Behcet disease MONDO:MONDO:0007191,MedGen:C0004943,OMIM:109650,Orphanet:117 1 1 1.0000 condition_record_support_limited 20 0 0 Behcet_disease 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNFRSF13B mondo_mondo_0011528_medgen_c1720956_omim_605258_orphanet_101089 Hyper-IgM syndrome type 2 MONDO:MONDO:0011528,MedGen:C1720956,OMIM:605258,Orphanet:101089 1 1 1.0000 condition_record_support_limited 20 0 1 Hyper-IgM_syndrome_type_2 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNFRSF11A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 32 compact_adjacent_exon_block_opportunity local_compact_architecture TNFAIP3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TNF medgen_c4016415 TNF receptor binding, altered MedGen:C4016415 1 1 1.0000 condition_record_support_limited 20 0 0 TNF_receptor_binding,_altered 1 low_record_burden_interpretation_limited low_record_burden_gene TNC tnc_related_disorder TNC-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TNC-related_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene TMPRSS9 tmprss9_related_neurodevelopmental_disorder TMPRSS9-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 TMPRSS9-related_neurodevelopmental_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene TMPRSS9 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 2 low_record_burden_interpretation_limited low_record_burden_gene TMPRSS6 human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_metabolism/homeostasis 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMPRSS3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMPRSS3 human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 1.0000 condition_record_support_limited 20 0 1 Ear_malformation 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMPRSS3 childhood_onset_hearing_loss Childhood onset hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Childhood_onset_hearing_loss 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMPPE glb1_related_disorder GLB1-related disorder MedGen:CN377807 1 1 1.0000 condition_record_support_limited 20 0 1 GLB1-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene TMLHE human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Corpus callosum, agenesis of Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 1.0000 condition_record_support_limited 20 0 1 Corpus_callosum,_agenesis_of 3 low_record_burden_interpretation_limited low_record_burden_gene TMLHE mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cerebellar_hypoplasia 3 low_record_burden_interpretation_limited low_record_burden_gene TMLHE human_phenotype_ontology_hp_0001320_medgen_c1840379 Cerebellar vermis hypoplasia Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_vermis_hypoplasia 3 low_record_burden_interpretation_limited low_record_burden_gene TMIE mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive 17 low_record_burden_interpretation_limited low_record_burden_gene TMIE human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 17 low_record_burden_interpretation_limited low_record_burden_gene TMIE human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 1.0000 condition_record_support_limited 20 0 0 Ear_malformation 17 low_record_burden_interpretation_limited low_record_burden_gene TMEM94 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM92 human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Hydrocephalus Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 1.0000 condition_record_support_limited 20 0 1 Hydrocephalus 1 low_record_burden_interpretation_limited low_record_burden_gene TMEM92 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene TMEM92 human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Cerebellar atrophy Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_atrophy 1 low_record_burden_interpretation_limited low_record_burden_gene TMEM92 bilateral_squint Bilateral squint MedGen:CN228276 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_squint 1 low_record_burden_interpretation_limited low_record_burden_gene TMEM87B condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene TMEM70 tmem70_related_disorder TMEM70-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TMEM70-related_disorder 38 compact_adjacent_exon_block_opportunity local_compact_architecture TMEM70 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 38 compact_adjacent_exon_block_opportunity local_compact_architecture TMEM70 mondo_mondo_0014471_medgen_c4757950_omim_ps604273_orphanet_254913 Mitochondrial proton-transporting ATP synthase complex deficiency MONDO:MONDO:0014471,MedGen:C4757950,OMIM:PS604273,Orphanet:254913 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_proton-transporting_ATP_synthase_complex_deficiency 38 compact_adjacent_exon_block_opportunity local_compact_architecture TMEM70 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 38 compact_adjacent_exon_block_opportunity local_compact_architecture TMEM67 opticusatrophia opticusatrophia . 1 1 1.0000 condition_record_support_limited 20 0 0 opticusatrophia 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Visual impairment Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 1.0000 condition_record_support_limited 20 0 1 Visual_impairment 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0001295_human_phenotype_ontology_hp_0001309_human_phenotype_ontology_hp_0001337_medgen_c0040822 Tremor Human_Phenotype_Ontology:HP:0001295,Human_Phenotype_Ontology:HP:0001309,Human_Phenotype_Ontology:HP:0001337,MedGen:C0040822 1 1 1.0000 condition_record_support_limited 20 0 1 Tremor 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0000088_human_phenotype_ontology_hp_0000107_human_phenotype_ontology_hp_0000109_mondo_mondo_0002473_medgen_c3887499 Renal cyst Human_Phenotype_Ontology:HP:0000088,Human_Phenotype_Ontology:HP:0000107,Human_Phenotype_Ontology:HP:0000109,MONDO:MONDO:0002473,MedGen:C3887499 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_cyst 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0002586_human_phenotype_ontology_hp_0100591_mondo_mondo_1010128_medgen_c0031154 Peritonitis Human_Phenotype_Ontology:HP:0002586,Human_Phenotype_Ontology:HP:0100591,MONDO:MONDO:1010128,MedGen:C0031154 1 1 1.0000 condition_record_support_limited 20 0 1 Peritonitis 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0001733_mondo_mondo_0004982_medgen_c0030305 Pancreatitis Human_Phenotype_Ontology:HP:0001733,MONDO:MONDO:0004982,MedGen:C0030305 1 1 1.0000 condition_record_support_limited 20 0 1 Pancreatitis 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0001562_human_phenotype_ontology_hp_0004638_mondo_mondo_0005881_medgen_c0079924 Oligohydramnios Human_Phenotype_Ontology:HP:0001562,Human_Phenotype_Ontology:HP:0004638,MONDO:MONDO:0005881,MedGen:C0079924 1 1 1.0000 condition_record_support_limited 20 0 1 Oligohydramnios 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 medgen_c1408258 Kidney damage MedGen:C1408258 1 1 1.0000 condition_record_support_limited 20 0 1 Kidney_damage 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 mondo_mondo_0008944_medgen_c4551568_omim_213300 Joubert syndrome 1 MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300 1 1 1.0000 condition_record_support_limited 20 0 0 Joubert_syndrome_1 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0002449_human_phenotype_ontology_hp_0002523_human_phenotype_ontology_hp_0008947_human_phenotype_ontology_hp_0010572_medgen_c1860834 Floppy infant Human_Phenotype_Ontology:HP:0002449,Human_Phenotype_Ontology:HP:0002523,Human_Phenotype_Ontology:HP:0008947,Human_Phenotype_Ontology:HP:0010572,MedGen:C1860834 1 1 1.0000 condition_record_support_limited 20 0 1 Floppy_infant 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Congenital ocular coloboma Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_ocular_coloboma 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0002438_medgen_c4025708_orphanet_182061 Cerebellar malformation Human_Phenotype_Ontology:HP:0002438,MedGen:C4025708,Orphanet:182061 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_malformation 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0000781_human_phenotype_ontology_hp_0001552_human_phenotype_ontology_hp_0001553_medgen_c0264172 Barrel-shaped chest Human_Phenotype_Ontology:HP:0000781,Human_Phenotype_Ontology:HP:0001552,Human_Phenotype_Ontology:HP:0001553,MedGen:C0264172 1 1 1.0000 condition_record_support_limited 20 0 1 Barrel-shaped_chest 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 1.0000 condition_record_support_limited 20 0 1 Bardet-Biedl_syndrome 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Absent speech Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 1.0000 condition_record_support_limited 20 0 1 Absent_speech 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM67 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 241 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM63B tmem63b_associated_disorder TMEM63B-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TMEM63B-associated_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene TMEM63B medgen_c5681770_orphanet_101998 Rare epilepsy MedGen:C5681770,Orphanet:101998 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_epilepsy 7 low_record_burden_interpretation_limited low_record_burden_gene TMEM50B mondo_mondo_0013953_medgen_c4013947_omim_614889_orphanet_319547_orphanet_319574 Immunodeficiency 28 MONDO:MONDO:0013953,MedGen:C4013947,OMIM:614889,Orphanet:319547,Orphanet:319574 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_28 1 low_record_burden_interpretation_limited low_record_burden_gene TMEM47 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 1 low_record_burden_interpretation_limited low_record_burden_gene TMEM47 human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Hypoplasia of the corpus callosum Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplasia_of_the_corpus_callosum 1 low_record_burden_interpretation_limited low_record_burden_gene TMEM47 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene TMEM47 mondo_mondo_0009072_mesh_d003616_medgen_c0010964_omim_220200_orphanet_217 Dandy-Walker syndrome MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217 1 1 1.0000 condition_record_support_limited 20 0 1 Dandy-Walker_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene TMEM47 human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Cerebellar atrophy Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_atrophy 1 low_record_burden_interpretation_limited low_record_burden_gene TMEM47 human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Attention deficit hyperactivity disorder Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 1.0000 condition_record_support_limited 20 0 1 Attention_deficit_hyperactivity_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene TMEM43 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene TMEM43 efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 3 low_record_burden_interpretation_limited low_record_burden_gene TMEM43 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrophic_cardiomyopathy 3 low_record_burden_interpretation_limited low_record_burden_gene TMEM43 mondo_mondo_0016342_medgen_c4274968_omim_ps107970_orphanet_217656 Familial isolated arrhythmogenic right ventricular dysplasia MONDO:MONDO:0016342,MedGen:C4274968,OMIM:PS107970,Orphanet:217656 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_isolated_arrhythmogenic_right_ventricular_dysplasia 3 low_record_burden_interpretation_limited low_record_burden_gene TMEM43 mondo_mondo_0013677_medgen_c3553060_omim_614302_orphanet_261 Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:MONDO:0013677,MedGen:C3553060,OMIM:614302,Orphanet:261 1 1 1.0000 condition_record_support_limited 20 0 0 Emery-Dreifuss_muscular_dystrophy_7,_autosomal_dominant 3 low_record_burden_interpretation_limited low_record_burden_gene TMEM43 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 3 low_record_burden_interpretation_limited low_record_burden_gene TMEM43 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy 3 low_record_burden_interpretation_limited low_record_burden_gene TMEM43 mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 Arrhythmogenic right ventricular cardiomyopathy MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 1 1 1.0000 condition_record_support_limited 20 0 1 Arrhythmogenic_right_ventricular_cardiomyopathy 3 low_record_burden_interpretation_limited low_record_burden_gene TMEM38B mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 Osteogenesis imperfecta MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 1 1 1.0000 condition_record_support_limited 20 0 0 Osteogenesis_imperfecta 11 low_record_burden_interpretation_limited low_record_burden_gene TMEM260 human_phenotype_ontology_hp_0004384_medgen_c1834934 Type I truncus arteriosus Human_Phenotype_Ontology:HP:0004384,MedGen:C1834934 1 1 1.0000 condition_record_support_limited 20 0 1 Type_I_truncus_arteriosus 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM256 mondo_mondo_0013127_medgen_c0036069_omim_613091_orphanet_474_orphanet_93269_orphanet_93270_orphanet_93271 Asphyxiating thoracic dystrophy 3 MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271 1 1 1.0000 condition_record_support_limited 20 0 0 Asphyxiating_thoracic_dystrophy_3 1 low_record_burden_interpretation_limited low_record_burden_gene TMEM240 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene TMEM237 mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 Meckel-Gruber syndrome MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 1 1 1.0000 condition_record_support_limited 20 0 1 Meckel-Gruber_syndrome 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM232 mondo_mondo_0014671_medgen_c4225302_omim_616505 Neuropathy, hereditary motor and sensory, type 6B MONDO:MONDO:0014671,MedGen:C4225302,OMIM:616505 1 1 1.0000 condition_record_support_limited 20 0 0 Neuropathy,_hereditary_motor_and_sensory,_type_6B 1 low_record_burden_interpretation_limited low_record_burden_gene TMEM231 mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 Meckel-Gruber syndrome MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 1 1 1.0000 condition_record_support_limited 20 0 1 Meckel-Gruber_syndrome 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM231 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM230 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene TMEM216 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM203 mondo_mondo_0013215_medgen_c2750082_omim_613307_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 79 MONDO:MONDO:0013215,MedGen:C2750082,OMIM:613307,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_nonsyndromic_hearing_loss_79 1 low_record_burden_interpretation_limited low_record_burden_gene TMEM165 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene TMEM163 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene TMEM151A tmem151a_related_disorder TMEM151A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 TMEM151A-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene TMEM147 pseudo_pelger_huet_anomaly pseudo-Pelger-Huet anomaly . 1 1 1.0000 condition_record_support_limited 20 0 0 pseudo-Pelger-Huet_anomaly 15 low_record_burden_interpretation_limited low_record_burden_gene TMEM147 human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 15 low_record_burden_interpretation_limited low_record_burden_gene TMEM147 human_phenotype_ontology_hp_0002465_medgen_c1848207 Poor speech Human_Phenotype_Ontology:HP:0002465,MedGen:C1848207 1 1 1.0000 condition_record_support_limited 20 0 1 Poor_speech 15 low_record_burden_interpretation_limited low_record_burden_gene TMEM147 human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Motor delay Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 1.0000 condition_record_support_limited 20 0 1 Motor_delay 15 low_record_burden_interpretation_limited low_record_burden_gene TMEM147 human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Absent speech Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 1.0000 condition_record_support_limited 20 0 1 Absent_speech 15 low_record_burden_interpretation_limited low_record_burden_gene TMEM147 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 15 low_record_burden_interpretation_limited low_record_burden_gene TMEM138 mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 Meckel-Gruber syndrome MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 1 1 1.0000 condition_record_support_limited 20 0 0 Meckel-Gruber_syndrome 19 low_record_burden_interpretation_limited low_record_burden_gene TMEM138 mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 1 1 1.0000 condition_record_support_limited 20 0 1 Joubert_syndrome_and_related_disorders 19 low_record_burden_interpretation_limited low_record_burden_gene TMEM132E mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_cancer_of_breast 2 low_record_burden_interpretation_limited low_record_burden_gene TMEM132E mondo_mondo_0012933_medgen_c2675520_omim_612555_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 2 MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 1 Breast-ovarian_cancer,_familial,_susceptibility_to,_2 2 low_record_burden_interpretation_limited low_record_burden_gene TMEM132E mondo_mondo_0700269_medgen_cn377758 BRCA2-related cancer predisposition MONDO:MONDO:0700269,MedGen:CN377758 1 1 1.0000 condition_record_support_limited 20 0 0 BRCA2-related_cancer_predisposition 2 low_record_burden_interpretation_limited low_record_burden_gene TMEM127 mondo_mondo_0700345_medgen_cn379765 TMEM127-related tumor predisposition MONDO:MONDO:0700345,MedGen:CN379765 1 1 1.0000 condition_record_support_limited 20 0 1 TMEM127-related_tumor_predisposition 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM127 tmem127_related_disorder TMEM127-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TMEM127-related_disorder 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM126B tmem126b_related_disorder TMEM126B-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TMEM126B-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene TMEM126B mondo_mondo_0100224_medgen_cn257533_omim_252010 Mitochondrial complex I deficiency, nuclear type 1 MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency,_nuclear_type_1 16 low_record_burden_interpretation_limited low_record_burden_gene TMEM126B mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 Mitochondrial complex I deficiency MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency 16 low_record_burden_interpretation_limited low_record_burden_gene TMEM126A tmem126a_related_disorder TMEM126A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TMEM126A-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene TMEM126A human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 1.0000 condition_record_support_limited 20 0 0 Optic_atrophy 10 low_record_burden_interpretation_limited low_record_burden_gene TMEM107 mondo_mondo_0015375_medgen_c0029294_omim_ps311200_orphanet_140997 Orofaciodigital syndrome MONDO:MONDO:0015375,MedGen:C0029294,OMIM:PS311200,Orphanet:140997 1 1 1.0000 condition_record_support_limited 20 0 1 Orofaciodigital_syndrome 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM107 mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 Meckel-Gruber syndrome MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 1 1 1.0000 condition_record_support_limited 20 0 1 Meckel-Gruber_syndrome 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM107 mondo_mondo_0800372_medgen_c4539715 Joubert syndrome 29 MONDO:MONDO:0800372,MedGen:C4539715 1 1 1.0000 condition_record_support_limited 20 0 1 Joubert_syndrome_29 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMEM106B condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene TMCO6 cystic_leukoencephalopathy Cystic Leukoencephalopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 Cystic_Leukoencephalopathy 3 low_record_burden_interpretation_limited low_record_burden_gene TMCO1 tmco1_related_disorder TMCO1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TMCO1-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene TMCO1 medgen_c1859252 Cerebro-facio-thoracic dysplasia MedGen:C1859252 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebro-facio-thoracic_dysplasia 16 low_record_burden_interpretation_limited low_record_burden_gene TMC1 human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Moderate intellectual disability Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 1 1 1.0000 condition_record_support_limited 20 0 1 Moderate_intellectual_disability 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMC1 human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 1.0000 condition_record_support_limited 20 0 1 Ear_malformation 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMC1 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMC1 human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Bilateral sensorineural hearing impairment Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_sensorineural_hearing_impairment 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TMBIM1 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 1 low_record_burden_interpretation_limited low_record_burden_gene TLR9 human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Esophageal atresia/tracheoesophageal fistula Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 1.0000 condition_record_support_limited 20 0 0 Esophageal_atresia/tracheoesophageal_fistula 1 low_record_burden_interpretation_limited low_record_burden_gene TLR8 human_phenotype_ontology_hp_0033428_medgen_c4015070 Systemic autoinflammation Human_Phenotype_Ontology:HP:0033428,MedGen:C4015070 1 1 1.0000 condition_record_support_limited 20 0 1 Systemic_autoinflammation 5 low_record_burden_interpretation_limited low_record_burden_gene TLR8 human_phenotype_ontology_hp_0001890_mondo_mondo_0020108_medgen_c0002880_omim_205700_orphanet_98375 Autoimmune hemolytic anemia Human_Phenotype_Ontology:HP:0001890,MONDO:MONDO:0020108,MedGen:C0002880,OMIM:205700,Orphanet:98375 1 1 1.0000 condition_record_support_limited 20 0 1 Autoimmune_hemolytic_anemia 5 low_record_burden_interpretation_limited low_record_burden_gene TLR5 mondo_mondo_0011138_medgen_c1866373_omim_601744 Systemic lupus erythematosus, susceptibility to, 1 MONDO:MONDO:0011138,MedGen:C1866373,OMIM:601744 1 1 1.0000 condition_record_support_limited 20 0 0 Systemic_lupus_erythematosus,_susceptibility_to,_1 1 low_record_burden_interpretation_limited low_record_burden_gene TLN1 mondo_mondo_0001956_medgen_c0343084_orphanet_188 Capillary leak syndrome MONDO:MONDO:0001956,MedGen:C0343084,Orphanet:188 1 1 1.0000 condition_record_support_limited 20 0 0 Capillary_leak_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene TLK2 tlk2_related_neurodevelopmental_disorder TLK2-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TLK2-related_neurodevelopmental_disorder 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TLK2 mondo_mondo_0016073_medgen_c5679782_omim_ps309800_orphanet_202948 Syndromic microphthalmia MONDO:MONDO:0016073,MedGen:C5679782,OMIM:PS309800,Orphanet:202948 1 1 1.0000 condition_record_support_limited 20 0 0 Syndromic_microphthalmia 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TLK2 medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_intellectual_disability 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TLK2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TLK2 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_disorder 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TKT condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene TK2 mitochondrial_dna_depletion_syndrome_2_myopathic_form Mitochondrial DNA depletion syndrome 2, myopathic form . 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_DNA_depletion_syndrome_2,_myopathic_form 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TK2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TJP2 mondo_mondo_0007029_medgen_c0265234_omim_ps113650_orphanet_107 Melnick-Fraser syndrome MONDO:MONDO:0007029,MedGen:C0265234,OMIM:PS113650,Orphanet:107 1 1 1.0000 condition_record_support_limited 20 0 1 Melnick-Fraser_syndrome 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TJP2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TJP2 mondo_mondo_0013305_medgen_c3160736_omim_613558_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 51 MONDO:MONDO:0013305,MedGen:C3160736,OMIM:613558,Orphanet:90635 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_nonsyndromic_hearing_loss_51 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TIMP3 human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Cerebral arteriovenous malformation Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_arteriovenous_malformation 11 low_record_burden_interpretation_limited low_record_burden_gene TIMMDC1 mondo_mondo_0100224_medgen_cn257533_omim_252010 Mitochondrial complex I deficiency, nuclear type 1 MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_I_deficiency,_nuclear_type_1 8 low_record_burden_interpretation_limited low_record_burden_gene TIMM8A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 25 compact_adjacent_exon_block_opportunity local_compact_architecture TIMM50 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene TIMM50 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 6 low_record_burden_interpretation_limited low_record_burden_gene TIMM22 mondo_mondo_0030017_medgen_c5394284_omim_618851 Combined oxidative phosphorylation deficiency 43 MONDO:MONDO:0030017,MedGen:C5394284,OMIM:618851 1 1 1.0000 condition_record_support_limited 20 0 0 Combined_oxidative_phosphorylation_deficiency_43 1 low_record_burden_interpretation_limited low_record_burden_gene TIMELESS mondo_mondo_0031044_medgen_c5774204_omim_620015 Advance sleep phase syndrome, familial, 4 MONDO:MONDO:0031044,MedGen:C5774204,OMIM:620015 1 1 1.0000 condition_record_support_limited 20 0 0 Advance_sleep_phase_syndrome,_familial,_4 1 low_record_burden_interpretation_limited low_record_burden_gene TIA1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene TIA1 mondo_mondo_0011466_medgen_c0221054_omim_604454_orphanet_603 Welander distal myopathy MONDO:MONDO:0011466,MedGen:C0221054,OMIM:604454,Orphanet:603 1 1 1.0000 condition_record_support_limited 20 0 1 Welander_distal_myopathy 1 low_record_burden_interpretation_limited low_record_burden_gene THTPA medgen_c4538468_omim_147430 Indifference to pain, congenital, autosomal dominant MedGen:C4538468,OMIM:147430 1 1 1.0000 condition_record_support_limited 20 0 0 Indifference_to_pain,_congenital,_autosomal_dominant 1 low_record_burden_interpretation_limited low_record_burden_gene THSD4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene THSD4 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 9 low_record_burden_interpretation_limited low_record_burden_gene THSD1 condition_not_provided condition not provided MedGen:CN169374 1 1 1.0000 condition_record_support_limited 20 1 1 not_specified 6 low_record_burden_interpretation_limited low_record_burden_gene THSD1 human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 1.0000 condition_record_support_limited 20 0 1 Non-immune_hydrops_fetalis 6 low_record_burden_interpretation_limited low_record_burden_gene THSD1 mondo_mondo_0032891_medgen_c5231484_omim_618734 Aneurysm, intracranial berry, 12 MONDO:MONDO:0032891,MedGen:C5231484,OMIM:618734 1 1 1.0000 condition_record_support_limited 20 0 0 Aneurysm,_intracranial_berry,_12 6 low_record_burden_interpretation_limited low_record_burden_gene THRB resistance_to_thyroid_hormone_rth resistance to thyroid hormone (RTH) . 1 1 1.0000 condition_record_support_limited 20 0 1 resistance_to_thyroid_hormone_(RTH) 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture THRB mondo_mondo_0700478_medgen_cn308011_orphanet_566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta MONDO:MONDO:0700478,MedGen:CN308011,Orphanet:566243 1 1 1.0000 condition_record_support_limited 20 0 1 Resistance_to_thyroid_hormone_due_to_a_mutation_in_thyroid_hormone_receptor_beta 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture THRB human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 1.0000 condition_record_support_limited 20 0 0 Macular_dystrophy 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture THRA mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene THPO mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 17 low_record_burden_interpretation_limited low_record_burden_gene THOC6 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture THOC2 thoc2_related_disorder THOC2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 THOC2-related_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture THOC2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture THOC1 mondo_mondo_0859524_medgen_c5830340_omim_620280 Hearing loss, autosomal dominant 86 MONDO:MONDO:0859524,MedGen:C5830340,OMIM:620280 1 1 1.0000 condition_record_support_limited 20 0 0 Hearing_loss,_autosomal_dominant_86 1 low_record_burden_interpretation_limited low_record_burden_gene THG1L condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene THG1L mondo_mondo_0032923_medgen_c5394101_omim_618800 Spinocerebellar ataxia, autosomal recessive 28 MONDO:MONDO:0032923,MedGen:C5394101,OMIM:618800 1 1 1.0000 condition_record_support_limited 20 0 1 Spinocerebellar_ataxia,_autosomal_recessive_28 4 low_record_burden_interpretation_limited low_record_burden_gene THBS2 mondo_mondo_0971044_medgen_c5935631_omim_620865 Ehlers-Danlos syndrome, classic-like, 3 MONDO:MONDO:0971044,MedGen:C5935631,OMIM:620865 1 1 1.0000 condition_record_support_limited 20 0 1 Ehlers-Danlos_syndrome,_classic-like,_3 1 low_record_burden_interpretation_limited low_record_burden_gene THBS2 mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 Ehlers-Danlos syndrome MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 1 1 1.0000 condition_record_support_limited 20 0 1 Ehlers-Danlos_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene THBD condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 8 low_record_burden_interpretation_limited low_record_burden_gene THBD human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombocytopenia 8 low_record_burden_interpretation_limited low_record_burden_gene THAP7 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene THAP7 mondo_mondo_0011531_medgen_c1854469_omim_605275_orphanet_648 Noonan syndrome 2 MONDO:MONDO:0011531,MedGen:C1854469,OMIM:605275,Orphanet:648 1 1 1.0000 condition_record_support_limited 20 0 1 Noonan_syndrome_2 1 low_record_burden_interpretation_limited low_record_burden_gene THAP7 mondo_mondo_0014693_medgen_c4225280_omim_616564_orphanet_648 Noonan syndrome 10 MONDO:MONDO:0014693,MedGen:C4225280,OMIM:616564,Orphanet:648 1 1 1.0000 condition_record_support_limited 20 0 1 Noonan_syndrome_10 1 low_record_burden_interpretation_limited low_record_burden_gene THAP7 mondo_mondo_0014299_medgen_c3810283_omim_615670_orphanet_93921 LZTR1-related schwannomatosis MONDO:MONDO:0014299,MedGen:C3810283,OMIM:615670,Orphanet:93921 1 1 1.0000 condition_record_support_limited 20 0 1 LZTR1-related_schwannomatosis 1 low_record_burden_interpretation_limited low_record_burden_gene THAP7 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer-predisposing_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene THAP7 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 1 low_record_burden_interpretation_limited low_record_burden_gene THAP11 mondo_mondo_0975798_medgen_c5975387_omim_620940 Methylmalonic aciduria and homocystinuria, cb1L type MONDO:MONDO:0975798,MedGen:C5975387,OMIM:620940 1 1 1.0000 condition_record_support_limited 20 0 1 Methylmalonic_aciduria_and_homocystinuria,_cb1L_type 1 low_record_burden_interpretation_limited low_record_burden_gene THAP11 mondo_mondo_0010657_medgen_c0796208_omim_309541_orphanet_369962 Methylmalonic acidemia with homocystinuria, type cblX MONDO:MONDO:0010657,MedGen:C0796208,OMIM:309541,Orphanet:369962 1 1 1.0000 condition_record_support_limited 20 0 1 Methylmalonic_acidemia_with_homocystinuria,_type_cblX 1 low_record_burden_interpretation_limited low_record_burden_gene THAP11 disorders_of_intracellular_cobalamin_metabolism Disorders of Intracellular Cobalamin Metabolism MedGen:CN043592 1 1 1.0000 condition_record_support_limited 20 0 1 Disorders_of_Intracellular_Cobalamin_Metabolism 1 low_record_burden_interpretation_limited low_record_burden_gene THAP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 46 compact_adjacent_exon_block_opportunity local_compact_architecture THAP1 human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 1.0000 condition_record_support_limited 20 0 0 Dystonic_disorder 46 compact_adjacent_exon_block_opportunity local_compact_architecture TH mondo_mondo_0100064_medgen_c5700309 Tyrosine hydroxylase deficiency MONDO:MONDO:0100064,MedGen:C5700309 1 1 1.0000 condition_record_support_limited 20 0 1 Tyrosine_hydroxylase_deficiency 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TH mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TH mondo_mondo_0007495_medgen_c1851920_omim_128230_orphanet_98808 Dystonia 5 MONDO:MONDO:0007495,MedGen:C1851920,OMIM:128230,Orphanet:98808 1 1 1.0000 condition_record_support_limited 20 0 1 Dystonia_5 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGM6 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene TGM6 tgm6_related_disorder TGM6-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 TGM6-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene TGM5 tgm5_related_disorder TGM5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TGM5-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene TGM4 mondo_mondo_0003233_medgen_c0270736_omim_ps190300 Essential tremor MONDO:MONDO:0003233,MedGen:C0270736,OMIM:PS190300 1 1 1.0000 condition_record_support_limited 20 0 0 Essential_tremor 1 low_record_burden_interpretation_limited low_record_burden_gene TGM3 mondo_mondo_0014989_medgen_c4310649_omim_617251 Uncombable hair syndrome 2 MONDO:MONDO:0014989,MedGen:C4310649,OMIM:617251 1 1 1.0000 condition_record_support_limited 20 0 0 Uncombable_hair_syndrome_2 1 low_record_burden_interpretation_limited low_record_burden_gene TGM1 mondo_mondo_0007944_medgen_cn315775_omim_154500_orphanet_861 Treacher Collins syndrome 1 MONDO:MONDO:0007944,MedGen:CN315775,OMIM:154500,Orphanet:861 1 1 1.0000 condition_record_support_limited 20 0 1 Treacher_Collins_syndrome_1 297 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGM1 ichthyosis_and_erythrokeratoderma Ichthyosis and erythrokeratoderma . 1 1 1.0000 condition_record_support_limited 20 0 1 Ichthyosis_and_erythrokeratoderma 297 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGM1 human_phenotype_ontology_hp_0000955_human_phenotype_ontology_hp_0007547_human_phenotype_ontology_hp_0008064_mondo_mondo_0019269_medgen_c0020757_orphanet_79354 Ichthyosis Human_Phenotype_Ontology:HP:0000955,Human_Phenotype_Ontology:HP:0007547,Human_Phenotype_Ontology:HP:0008064,MONDO:MONDO:0019269,MedGen:C0020757,Orphanet:79354 1 1 1.0000 condition_record_support_limited 20 0 1 Ichthyosis 297 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGM1 mondo_mondo_0017265_medgen_c1274215_omim_ps242300_orphanet_281097 Autosomal recessive congenital ichthyosis MONDO:MONDO:0017265,MedGen:C1274215,OMIM:PS242300,Orphanet:281097 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_congenital_ichthyosis 297 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGIF2LY medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 1 low_record_burden_interpretation_limited low_record_burden_gene TGFBR2 human_phenotype_ontology_hp_0001716_mondo_mondo_0008685_medgen_c0043202_omim_194200 Wolff-Parkinson-White pattern Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200 1 1 1.0000 condition_record_support_limited 20 0 1 Wolff-Parkinson-White_pattern 130 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR2 isolated_thoracic_aortic_aneurysm Isolated thoracic aortic aneurysm . 1 1 1.0000 condition_record_support_limited 20 0 0 Isolated_thoracic_aortic_aneurysm 130 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 130 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR2 mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 Ehlers-Danlos syndrome MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 1 1 1.0000 condition_record_support_limited 20 0 0 Ehlers-Danlos_syndrome 130 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR2 mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 1 1 1.0000 condition_record_support_limited 20 0 1 Connective_tissue_disorder 130 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR1 tgfbr1_related_disorder TGFBR1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TGFBR1-related_disorder 108 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR1 human_phenotype_ontology_hp_0011407_medgen_c4023371 Proportionate tall stature Human_Phenotype_Ontology:HP:0011407,MedGen:C4023371 1 1 1.0000 condition_record_support_limited 20 0 1 Proportionate_tall_stature 108 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR1 human_phenotype_ontology_hp_0000767_human_phenotype_ontology_hp_0006613_human_phenotype_ontology_hp_0006617_mondo_mondo_0008213_medgen_c2051831_omim_169300 Pectus excavatum Human_Phenotype_Ontology:HP:0000767,Human_Phenotype_Ontology:HP:0006613,Human_Phenotype_Ontology:HP:0006617,MONDO:MONDO:0008213,MedGen:C2051831,OMIM:169300 1 1 1.0000 condition_record_support_limited 20 0 1 Pectus_excavatum 108 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR1 human_phenotype_ontology_hp_0006010_human_phenotype_ontology_hp_0100807_medgen_c1858091 Long fingers Human_Phenotype_Ontology:HP:0006010,Human_Phenotype_Ontology:HP:0100807,MedGen:C1858091 1 1 1.0000 condition_record_support_limited 20 0 1 Long_fingers 108 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR1 mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 Ehlers-Danlos syndrome MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 1 1 1.0000 condition_record_support_limited 20 0 1 Ehlers-Danlos_syndrome 108 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR1 human_phenotype_ontology_hp_0004942_mondo_mondo_0005160_medgen_c0003486 Aortic aneurysm Human_Phenotype_Ontology:HP:0004942,MONDO:MONDO:0005160,MedGen:C0003486 1 1 1.0000 condition_record_support_limited 20 0 0 Aortic_aneurysm 108 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR1 human_phenotype_ontology_hp_0000174_medgen_c4021815 Abnormal palate morphology Human_Phenotype_Ontology:HP:0000174,MedGen:C4021815 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_palate_morphology 108 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBR1 human_phenotype_ontology_hp_0001679_human_phenotype_ontology_hp_0030963_medgen_c4025756 Abnormal aortic morphology Human_Phenotype_Ontology:HP:0001679,Human_Phenotype_Ontology:HP:0030963,MedGen:C4025756 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_aortic_morphology 108 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFBI mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFB3 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_disorder 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TGFB2 mondo_mondo_0007947_medgen_c0024796_omim_154700_orphanet_284963_orphanet_558 Marfan syndrome MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558 1 1 1.0000 condition_record_support_limited 20 0 0 Marfan_syndrome 112 compact_adjacent_exon_block_opportunity local_compact_architecture TGFB2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 112 compact_adjacent_exon_block_opportunity local_compact_architecture TGFB2 mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 Ehlers-Danlos syndrome MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 1 1 1.0000 condition_record_support_limited 20 0 0 Ehlers-Danlos_syndrome 112 compact_adjacent_exon_block_opportunity local_compact_architecture TGFB2 mondo_mondo_0007172_medgen_c1862389_omim_108800_orphanet_1478 Atrial septal defect 1 MONDO:MONDO:0007172,MedGen:C1862389,OMIM:108800,Orphanet:1478 1 1 1.0000 condition_record_support_limited 20 0 0 Atrial_septal_defect_1 112 compact_adjacent_exon_block_opportunity local_compact_architecture TGFB2 aortic_aneurysm_familial_thoracic_tgfb2_related Aortic aneurysm, familial thoracic, TGFB2 related . 1 1 1.0000 condition_record_support_limited 20 0 1 Aortic_aneurysm,_familial_thoracic,_TGFB2_related 112 compact_adjacent_exon_block_opportunity local_compact_architecture TGFB1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene TGFB1 mondo_mondo_0700385_medgen_cn379925_omim_131300 Camurati-Engelmann disease type 1 MONDO:MONDO:0700385,MedGen:CN379925,OMIM:131300 1 1 1.0000 condition_record_support_limited 20 0 1 Camurati-Engelmann_disease_type_1 11 low_record_burden_interpretation_limited low_record_burden_gene TGDS tgds_related_disorder TGDS-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TGDS-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene TGDS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene TG human_phenotype_ontology_hp_0000821_human_phenotype_ontology_hp_0003222_human_phenotype_ontology_hp_0008203_mondo_mondo_0005420_medgen_c0020676 Hypothyroidism Human_Phenotype_Ontology:HP:0000821,Human_Phenotype_Ontology:HP:0003222,Human_Phenotype_Ontology:HP:0008203,MONDO:MONDO:0005420,MedGen:C0020676 1 1 1.0000 condition_record_support_limited 20 0 0 Hypothyroidism 241 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TFRC mondo_mondo_0014760_medgen_c5568133_omim_616740_orphanet_476113 TFRC-related combined immunodeficiency MONDO:MONDO:0014760,MedGen:C5568133,OMIM:616740,Orphanet:476113 1 1 1.0000 condition_record_support_limited 20 0 0 TFRC-related_combined_immunodeficiency 1 low_record_burden_interpretation_limited low_record_burden_gene TFR2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFR2 tfr2_related_disorder TFR2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TFR2-related_disorder 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFR2 mondo_mondo_0021001_medgen_c3469186_omim_235200_orphanet_465508 Hemochromatosis type 1 MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508 1 1 1.0000 condition_record_support_limited 20 0 1 Hemochromatosis_type_1 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFPT condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene TFPT mondo_mondo_0010828_medgen_c1838601_omim_600138_orphanet_791 Retinitis pigmentosa 11 MONDO:MONDO:0010828,MedGen:C1838601,OMIM:600138,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa_11 1 low_record_burden_interpretation_limited low_record_burden_gene TFPT human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 1 low_record_burden_interpretation_limited low_record_burden_gene TFG mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 5 low_record_burden_interpretation_limited low_record_burden_gene TFG amyotrophic_lateral_sclerosis_with_sensory_neuropathy Amyotrophic Lateral Sclerosis with Sensory Neuropathy . 1 1 1.0000 condition_record_support_limited 20 0 1 Amyotrophic_Lateral_Sclerosis_with_Sensory_Neuropathy 5 low_record_burden_interpretation_limited low_record_burden_gene TFE3 human_phenotype_ontology_hp_0005584_human_phenotype_ontology_hp_0006720_mondo_mondo_0005086_mesh_d002292_medgen_c0007134_orphanet_217071 Renal cell carcinoma Human_Phenotype_Ontology:HP:0005584,Human_Phenotype_Ontology:HP:0006720,MONDO:MONDO:0005086,MeSH:D002292,MedGen:C0007134,Orphanet:217071 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_cell_carcinoma 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFE3 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFE3 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFE3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFCP2L1 human_phenotype_ontology_hp_0000106_human_phenotype_ontology_hp_0001918_human_phenotype_ontology_hp_0008671_human_phenotype_ontology_hp_0012622_mondo_mondo_0005300_medgen_c1561643 Chronic kidney disease Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643 1 1 1.0000 condition_record_support_limited 20 0 0 Chronic_kidney_disease 1 low_record_burden_interpretation_limited low_record_burden_gene TFAP2B mondo_mondo_1010098_medgen_cn379031 TFAP2B-related congenital heart disease spectrum disorder MONDO:MONDO:1010098,MedGen:CN379031 1 1 1.0000 condition_record_support_limited 20 0 0 TFAP2B-related_congenital_heart_disease_spectrum_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFAP2B mondo_mondo_0017574_medgen_c0238062_orphanet_2978 Chronic intestinal pseudoobstruction MONDO:MONDO:0017574,MedGen:C0238062,Orphanet:2978 1 1 1.0000 condition_record_support_limited 20 0 0 Chronic_intestinal_pseudoobstruction 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFAP2A human_phenotype_ontology_hp_0000470_human_phenotype_ontology_hp_0005992_human_phenotype_ontology_hp_0200137_medgen_c0521525 Short neck Human_Phenotype_Ontology:HP:0000470,Human_Phenotype_Ontology:HP:0005992,Human_Phenotype_Ontology:HP:0200137,MedGen:C0521525 1 1 1.0000 condition_record_support_limited 20 0 1 Short_neck 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFAP2A human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 1.0000 condition_record_support_limited 20 0 1 Nystagmus 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFAP2A human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Microphthalmia Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 1 1 1.0000 condition_record_support_limited 20 0 1 Microphthalmia 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFAP2A mondo_mondo_0007029_medgen_c0265234_omim_ps113650_orphanet_107 Melnick-Fraser syndrome MONDO:MONDO:0007029,MedGen:C0265234,OMIM:PS113650,Orphanet:107 1 1 1.0000 condition_record_support_limited 20 0 0 Melnick-Fraser_syndrome 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFAP2A human_phenotype_ontology_hp_0000369_medgen_c0239234 Low-set ears Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234 1 1 1.0000 condition_record_support_limited 20 0 1 Low-set_ears 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFAP2A human_phenotype_ontology_hp_0001132_mondo_mondo_0001271_medgen_c0023316 Lens subluxation Human_Phenotype_Ontology:HP:0001132,MONDO:MONDO:0001271,MedGen:C0023316 1 1 1.0000 condition_record_support_limited 20 0 1 Lens_subluxation 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFAP2A human_phenotype_ontology_hp_0000612_mondo_mondo_0020356_medgen_c0240063_orphanet_98944 Iris coloboma Human_Phenotype_Ontology:HP:0000612,MONDO:MONDO:0020356,MedGen:C0240063,Orphanet:98944 1 1 1.0000 condition_record_support_limited 20 0 1 Iris_coloboma 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFAP2A human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Hypertelorism Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertelorism 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFAP2A human_phenotype_ontology_hp_0000156_human_phenotype_ontology_hp_0000218_human_phenotype_ontology_hp_0009080_human_phenotype_ontology_hp_0009082_human_phenotype_ontology_hp_0009097_medgen_c0240635 High palate Human_Phenotype_Ontology:HP:0000156,Human_Phenotype_Ontology:HP:0000218,Human_Phenotype_Ontology:HP:0009080,Human_Phenotype_Ontology:HP:0009082,Human_Phenotype_Ontology:HP:0009097,MedGen:C0240635 1 1 1.0000 condition_record_support_limited 20 0 1 High_palate 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFAP2A human_phenotype_ontology_hp_0000565_mondo_mondo_0004896_medgen_c0014877 Esotropia Human_Phenotype_Ontology:HP:0000565,MONDO:MONDO:0004896,MedGen:C0014877 1 1 1.0000 condition_record_support_limited 20 0 1 Esotropia 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFAP2A human_phenotype_ontology_hp_0000286_human_phenotype_ontology_hp_0000624_human_phenotype_ontology_hp_0007930_medgen_c0678230_omim_131500 Epicanthus Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500 1 1 1.0000 condition_record_support_limited 20 0 1 Epicanthus 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFAP2A human_phenotype_ontology_hp_0001346_human_phenotype_ontology_hp_0002353_human_phenotype_ontology_hp_0002429_human_phenotype_ontology_hp_0006841_medgen_c0151611 EEG abnormality Human_Phenotype_Ontology:HP:0001346,Human_Phenotype_Ontology:HP:0002353,Human_Phenotype_Ontology:HP:0002429,Human_Phenotype_Ontology:HP:0006841,MedGen:C0151611 1 1 1.0000 condition_record_support_limited 20 0 1 EEG_abnormality 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFAP2A chromatinopathy Chromatinopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 Chromatinopathy 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFAP2A human_phenotype_ontology_hp_0000646_mondo_mondo_0001020_medgen_c0002418 Amblyopia Human_Phenotype_Ontology:HP:0000646,MONDO:MONDO:0001020,MedGen:C0002418 1 1 1.0000 condition_record_support_limited 20 0 1 Amblyopia 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TFAP2A human_phenotype_ontology_hp_0000649_medgen_c0522214 Abnormality of visual evoked potentials Human_Phenotype_Ontology:HP:0000649,MedGen:C0522214 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_visual_evoked_potentials 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TF transferrin_variant_d1 Transferrin variant D1 . 1 1 1.0000 condition_record_support_limited 20 0 0 Transferrin_variant_D1 18 low_record_burden_interpretation_limited low_record_burden_gene TF transferrin_variant_bv Transferrin variant Bv . 1 1 1.0000 condition_record_support_limited 20 0 0 Transferrin_variant_Bv 18 low_record_burden_interpretation_limited low_record_burden_gene TF mondo_mondo_0013756_medgen_c3280800_omim_614441_orphanet_2796 Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 MONDO:MONDO:0013756,MedGen:C3280800,OMIM:614441,Orphanet:2796 1 1 1.0000 condition_record_support_limited 20 0 0 Hypertrophic_osteoarthropathy,_primary,_autosomal_recessive,_2 18 low_record_burden_interpretation_limited low_record_burden_gene TEX9 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene TEX9 human_phenotype_ontology_hp_0001696_mondo_mondo_0010029_medgen_c4551493_orphanet_101063 Situs inversus Human_Phenotype_Ontology:HP:0001696,MONDO:MONDO:0010029,MedGen:C4551493,Orphanet:101063 1 1 1.0000 condition_record_support_limited 20 0 1 Situs_inversus 7 low_record_burden_interpretation_limited low_record_burden_gene TEX15 tex15_related_disorder TEX15-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TEX15-related_disorder 22 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TEX15 mondo_mondo_0009776_medgen_c0403810_omim_258150 Oligosynaptic infertility MONDO:MONDO:0009776,MedGen:C0403810,OMIM:258150 1 1 1.0000 condition_record_support_limited 20 0 1 Oligosynaptic_infertility 22 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TEX15 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 1.0000 condition_record_support_limited 20 0 0 Non-obstructive_azoospermia 22 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TEX14 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 10 low_record_burden_interpretation_limited low_record_burden_gene TEX12 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene TEX12 mondo_mondo_0009863_medgen_c0878676_omim_261640_orphanet_13_orphanet_238583 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency MONDO:MONDO:0009863,MedGen:C0878676,OMIM:261640,Orphanet:13,Orphanet:238583 1 1 1.0000 condition_record_support_limited 20 0 1 6-Pyruvoyl-tetrahydrobiopterin_synthase_deficiency 1 low_record_burden_interpretation_limited low_record_burden_gene TET3 tet3_related_beck_fahrner_syndrome TET3-related Beck-Fahrner syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 TET3-related_Beck-Fahrner_syndrome 52 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TET3 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 52 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TET3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 52 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TET2 human_phenotype_ontology_hp_0001709_mondo_mondo_0000468_medgen_c0151517 Third degree atrioventricular block Human_Phenotype_Ontology:HP:0001709,MONDO:MONDO:0000468,MedGen:C0151517 1 1 1.0000 condition_record_support_limited 20 0 0 Third_degree_atrioventricular_block 178 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TET2 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 178 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TET2 mondo_mondo_0100542_medgen_c5206406 Clonal hematopoiesis MONDO:MONDO:0100542,MedGen:C5206406 1 1 1.0000 condition_record_support_limited 20 0 0 Clonal_hematopoiesis 178 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TERT human_phenotype_ontology_hp_0002216_medgen_c0263498 Premature graying of hair Human_Phenotype_Ontology:HP:0002216,MedGen:C0263498 1 1 1.0000 condition_record_support_limited 20 0 1 Premature_graying_of_hair 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERT mondo_mondo_0014056_medgen_c3554574_omim_615134_orphanet_618 Melanoma, cutaneous malignant, susceptibility to, 9 MONDO:MONDO:0014056,MedGen:C3554574,OMIM:615134,Orphanet:618 1 1 1.0000 condition_record_support_limited 20 0 1 Melanoma,_cutaneous_malignant,_susceptibility_to,_9 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERT human_phenotype_ontology_hp_0001972_mondo_mondo_0002281_medgen_c0002886 Macrocytic anemia Human_Phenotype_Ontology:HP:0001972,MONDO:MONDO:0002281,MedGen:C0002886 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocytic_anemia 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERT mondo_mondo_0006279_medgen_c1708781 Lung sarcomatoid carcinoma MONDO:MONDO:0006279,MedGen:C1708781 1 1 1.0000 condition_record_support_limited 20 0 0 Lung_sarcomatoid_carcinoma 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERT mondo_mondo_0018045_medgen_c1846142_orphanet_3322 Hoyeraal-Hreidarsson syndrome MONDO:MONDO:0018045,MedGen:C1846142,Orphanet:3322 1 1 1.0000 condition_record_support_limited 20 0 1 Hoyeraal-Hreidarsson_syndrome 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERT mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer-predisposing_syndrome 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERT mondo_mondo_0014201_medgen_c3809624_omim_615476_orphanet_369894 Developmental and epileptic encephalopathy, 18 MONDO:MONDO:0014201,MedGen:C3809624,OMIM:615476,Orphanet:369894 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_18 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TERF2IP condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene TERC terc_related_disorder TERC-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TERC-related_disorder 49 single_exon_hotspot_opportunity local_compact_architecture TERC mondo_mondo_0800497_medgen_c5561926_omim_178500_orphanet_2032_orphanet_79126 Interstitial lung disease 2 MONDO:MONDO:0800497,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126 1 1 1.0000 condition_record_support_limited 20 0 1 Interstitial_lung_disease_2 49 single_exon_hotspot_opportunity local_compact_architecture TERB2 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 1.0000 condition_record_support_limited 20 0 0 Non-obstructive_azoospermia 3 low_record_burden_interpretation_limited low_record_burden_gene TERB1 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 1.0000 condition_record_support_limited 20 0 1 Non-obstructive_azoospermia 4 low_record_burden_interpretation_limited low_record_burden_gene TERB1 human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Azoospermia Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 1.0000 condition_record_support_limited 20 0 0 Azoospermia 4 low_record_burden_interpretation_limited low_record_burden_gene TENT5A mondo_mondo_0001561_medgen_c0034194 Pyloric stenosis MONDO:MONDO:0001561,MedGen:C0034194 1 1 1.0000 condition_record_support_limited 20 0 1 Pyloric_stenosis 4 low_record_burden_interpretation_limited low_record_burden_gene TENT5A human_phenotype_ontology_hp_0002032_mondo_mondo_0001044_mesh_d004933_medgen_c0014850 Esophageal atresia Human_Phenotype_Ontology:HP:0002032,MONDO:MONDO:0001044,MeSH:D004933,MedGen:C0014850 1 1 1.0000 condition_record_support_limited 20 0 1 Esophageal_atresia 4 low_record_burden_interpretation_limited low_record_burden_gene TENM4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene TENM3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene TENM1 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 1 low_record_burden_interpretation_limited low_record_burden_gene TELO2 telo2_related_disorder TELO2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TELO2-related_disorder 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TEK human_phenotype_ontology_hp_0001629_human_phenotype_ontology_hp_0001652_mondo_mondo_0002070_medgen_c0018818_omim_ps614429 Ventricular septal defect Human_Phenotype_Ontology:HP:0001629,Human_Phenotype_Ontology:HP:0001652,MONDO:MONDO:0002070,MedGen:C0018818,OMIM:PS614429 1 1 1.0000 condition_record_support_limited 20 0 1 Ventricular_septal_defect 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TEK vascular_skin_disorders Vascular skin disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Vascular_skin_disorders 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TEK tek_related_disorder TEK-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TEK-related_disorder 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TEK mondo_mondo_0016311_medgen_c5679814_orphanet_217008 Bockenheimer syndrome MONDO:MONDO:0016311,MedGen:C5679814,Orphanet:217008 1 1 1.0000 condition_record_support_limited 20 0 1 Bockenheimer_syndrome 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TEK human_phenotype_ontology_hp_0100026_mesh_d001165_medgen_c0003857 Arteriovenous malformation Human_Phenotype_Ontology:HP:0100026,MeSH:D001165,MedGen:C0003857 1 1 1.0000 condition_record_support_limited 20 0 0 Arteriovenous_malformation 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TECTA mondo_mondo_0007972_medgen_c0025281_omim_156000 Meniere disease MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000 1 1 1.0000 condition_record_support_limited 20 0 0 Meniere_disease 123 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TECTA human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 1.0000 condition_record_support_limited 20 0 0 Ear_malformation 123 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TECTA medgen_c0011053 Deafness MedGen:C0011053 1 1 1.0000 condition_record_support_limited 20 0 1 Deafness 123 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TECTA human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Bilateral sensorineural hearing impairment Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_sensorineural_hearing_impairment 123 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TECRL mondo_mondo_0017990_medgen_c5574922_omim_ps604772_orphanet_3286 Catecholaminergic polymorphic ventricular tachycardia MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286 1 1 1.0000 condition_record_support_limited 20 0 0 Catecholaminergic_polymorphic_ventricular_tachycardia 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TECPR2 sensory_autonomic_neuropathy_with_intellectual_disability Sensory autonomic neuropathy with intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 1 Sensory_autonomic_neuropathy_with_intellectual_disability 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TECPR2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TECPR2 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 0 Autism 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TECPR1 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 2 low_record_burden_interpretation_limited low_record_burden_gene TECPR1 human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Esophageal atresia/tracheoesophageal fistula Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 1.0000 condition_record_support_limited 20 0 0 Esophageal_atresia/tracheoesophageal_fistula 2 low_record_burden_interpretation_limited low_record_burden_gene TEC condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene TEAD3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene TEAD3 mondo_mondo_0010827_medgen_c1838603_omim_600132_orphanet_791 Retinitis pigmentosa 14 MONDO:MONDO:0010827,MedGen:C1838603,OMIM:600132,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa_14 1 low_record_burden_interpretation_limited low_record_burden_gene TEAD3 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 1 low_record_burden_interpretation_limited low_record_burden_gene TEAD3 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 1 Leber_congenital_amaurosis 1 low_record_burden_interpretation_limited low_record_burden_gene TEAD1 mondo_mondo_0007176_medgen_c1862382_omim_108985_orphanet_86813 Helicoid peripapillary chorioretinal degeneration MONDO:MONDO:0007176,MedGen:C1862382,OMIM:108985,Orphanet:86813 1 1 1.0000 condition_record_support_limited 20 0 0 Helicoid_peripapillary_chorioretinal_degeneration 1 low_record_burden_interpretation_limited low_record_burden_gene TDRKH human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Azoospermia Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 1.0000 condition_record_support_limited 20 0 0 Azoospermia 1 low_record_burden_interpretation_limited low_record_burden_gene TDRD1 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility 1 low_record_burden_interpretation_limited low_record_burden_gene TDP2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 13 low_record_burden_interpretation_limited low_record_burden_gene TDP2 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebellar_ataxia 13 low_record_burden_interpretation_limited low_record_burden_gene TCTN3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCTN3 mondo_mondo_0005308_medgen_c4277690_orphanet_363250 Ciliopathy MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 1 1 1.0000 condition_record_support_limited 20 0 1 Ciliopathy 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCTN2 tctn2_related_disorder TCTN2-related disorder MedGen:CN239412 1 1 1.0000 condition_record_support_limited 20 0 1 TCTN2-related_disorder 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCTN2 human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 1.0000 condition_record_support_limited 20 0 0 Focal_segmental_glomerulosclerosis 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCTN1 typical_joubert_syndrome_mri_findings Typical Joubert syndrome MRI findings MedGen:CN228298 1 1 1.0000 condition_record_support_limited 20 0 1 Typical_Joubert_syndrome_MRI_findings 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCTN1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCP1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene TCOF1 mondo_mondo_0013071_medgen_c2751807_omim_612998_orphanet_261 Emery-Dreifuss muscular dystrophy 4, autosomal dominant MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261 1 1 1.0000 condition_record_support_limited 20 0 0 Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCN2 human_phenotype_ontology_hp_0001876_mondo_mondo_0001529_medgen_c0030312 Pancytopenia Human_Phenotype_Ontology:HP:0001876,MONDO:MONDO:0001529,MedGen:C0030312 1 1 1.0000 condition_record_support_limited 20 0 1 Pancytopenia 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCN2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCIRG1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 279 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCIRG1 mondo_mondo_0009138_mesh_c562973_medgen_c0432262_omim_224300_orphanet_1782 Dysosteosclerosis MONDO:MONDO:0009138,MeSH:C562973,MedGen:C0432262,OMIM:224300,Orphanet:1782 1 1 1.0000 condition_record_support_limited 20 0 0 Dysosteosclerosis 279 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCIRG1 mondo_mondo_0008695_medgen_c0393576_omim_200150_orphanet_2388 Chorea-acanthocytosis MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388 1 1 1.0000 condition_record_support_limited 20 0 1 Chorea-acanthocytosis 279 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCIRG1 mondo_mondo_0019026_medgen_c4272578_omim_ps259700_orphanet_667 Autosomal recessive osteopetrosis MONDO:MONDO:0019026,MedGen:C4272578,OMIM:PS259700,Orphanet:667 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_osteopetrosis 279 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCIRG1 human_phenotype_ontology_hp_0000924_medgen_c4021790 Abnormality of the skeletal system Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_skeletal_system 279 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF7L2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 13 low_record_burden_interpretation_limited low_record_burden_gene TCF7L2 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 13 low_record_burden_interpretation_limited low_record_burden_gene TCF7L2 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 13 low_record_burden_interpretation_limited low_record_burden_gene TCF4 mondo_mondo_0002265_medgen_c0038273 Stereotypic movement disorder MONDO:MONDO:0002265,MedGen:C0038273 1 1 1.0000 condition_record_support_limited 20 0 1 Stereotypic_movement_disorder 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF4 human_phenotype_ontology_hp_0000440_human_phenotype_ontology_hp_0000449_human_phenotype_ontology_hp_0000450_human_phenotype_ontology_hp_0003192_human_phenotype_ontology_hp_0003195_human_phenotype_ontology_hp_0003196_human_phenotype_ontology_hp_0005270_human_phenotype_ontology_hp_0200092_medgen_c1854114 Short nose Human_Phenotype_Ontology:HP:0000440,Human_Phenotype_Ontology:HP:0000449,Human_Phenotype_Ontology:HP:0000450,Human_Phenotype_Ontology:HP:0003192,Human_Phenotype_Ontology:HP:0003195,Human_Phenotype_Ontology:HP:0003196,Human_Phenotype_Ontology:HP:0005270,Human_Phenotype_Ontology:HP:0200092,MedGen:C1854114 1 1 1.0000 condition_record_support_limited 20 0 1 Short_nose 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF4 severe_intellectual_deficiency Severe intellectual deficiency . 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_deficiency 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF4 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF4 mondo_mondo_0008438_medgen_c1866855_omim_182601_orphanet_100985 Hereditary spastic paraplegia 4 MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601,Orphanet:100985 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia_4 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF4 human_phenotype_ontology_hp_0002016_human_phenotype_ontology_hp_0002022_human_phenotype_ontology_hp_0002568_human_phenotype_ontology_hp_0008872_medgen_c2674608 Feeding difficulties in infancy Human_Phenotype_Ontology:HP:0002016,Human_Phenotype_Ontology:HP:0002022,Human_Phenotype_Ontology:HP:0002568,Human_Phenotype_Ontology:HP:0008872,MedGen:C2674608 1 1 1.0000 condition_record_support_limited 20 0 1 Feeding_difficulties_in_infancy 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF4 human_phenotype_ontology_hp_0000286_human_phenotype_ontology_hp_0000624_human_phenotype_ontology_hp_0007930_medgen_c0678230_omim_131500 Epicanthus Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500 1 1 1.0000 condition_record_support_limited 20 0 1 Epicanthus 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF4 human_phenotype_ontology_hp_0002307_medgen_c0013132 Drooling Human_Phenotype_Ontology:HP:0002307,MedGen:C0013132 1 1 1.0000 condition_record_support_limited 20 0 1 Drooling 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF4 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_disorder 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF4 human_phenotype_ontology_hp_0006872_medgen_c1855330 Cerebral hypoplasia Human_Phenotype_Ontology:HP:0006872,MedGen:C1855330 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_hypoplasia 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF4 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF4 human_phenotype_ontology_hp_0000427_human_phenotype_ontology_hp_0000435_human_phenotype_ontology_hp_0000441_human_phenotype_ontology_hp_0000463_medgen_c1840077 Anteverted nares Human_Phenotype_Ontology:HP:0000427,Human_Phenotype_Ontology:HP:0000435,Human_Phenotype_Ontology:HP:0000441,Human_Phenotype_Ontology:HP:0000463,MedGen:C1840077 1 1 1.0000 condition_record_support_limited 20 0 1 Anteverted_nares 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF3 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF20 human_phenotype_ontology_hp_0000508_mondo_mondo_0000728_medgen_c0005745 Ptosis Human_Phenotype_Ontology:HP:0000508,MONDO:MONDO:0000728,MedGen:C0005745 1 1 1.0000 condition_record_support_limited 20 0 1 Ptosis 139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCF20 human_phenotype_ontology_hp_0000767_human_phenotype_ontology_hp_0006613_human_phenotype_ontology_hp_0006617_mondo_mondo_0008213_medgen_c2051831_omim_169300 Pectus excavatum Human_Phenotype_Ontology:HP:0000767,Human_Phenotype_Ontology:HP:0006613,Human_Phenotype_Ontology:HP:0006617,MONDO:MONDO:0008213,MedGen:C2051831,OMIM:169300 1 1 1.0000 condition_record_support_limited 20 0 1 Pectus_excavatum 139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCF20 human_phenotype_ontology_hp_0001336_human_phenotype_ontology_hp_0002535_human_phenotype_ontology_hp_0007087_medgen_c0027066 Myoclonus Human_Phenotype_Ontology:HP:0001336,Human_Phenotype_Ontology:HP:0002535,Human_Phenotype_Ontology:HP:0007087,MedGen:C0027066 1 1 1.0000 condition_record_support_limited 20 0 1 Myoclonus 139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCF20 human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Moderate intellectual disability Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 1 1 1.0000 condition_record_support_limited 20 0 1 Moderate_intellectual_disability 139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCF20 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCF20 human_phenotype_ontology_hp_0000601_human_phenotype_ontology_hp_0007877_medgen_c0424711 Hypotelorism Human_Phenotype_Ontology:HP:0000601,Human_Phenotype_Ontology:HP:0007877,MedGen:C0424711 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotelorism 139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCF20 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCF20 human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive 139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCF20 human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 1.0000 condition_record_support_limited 20 0 0 Craniosynostosis_syndrome 139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCF20 human_phenotype_ontology_hp_0000729_medgen_c0856975 Autistic behavior Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 1.0000 condition_record_support_limited 20 0 1 Autistic_behavior 139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCF20 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCF20 human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Attention deficit hyperactivity disorder Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 1.0000 condition_record_support_limited 20 0 1 Attention_deficit_hyperactivity_disorder 139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TCF12 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF12 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_disorder 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF12 medgen_c0424605 Developmental delay MedGen:C0424605 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_delay 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF12 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF12 human_phenotype_ontology_hp_0002675_human_phenotype_ontology_hp_0002685_human_phenotype_ontology_hp_0002739_human_phenotype_ontology_hp_0004440_human_phenotype_ontology_hp_0004441_medgen_c1856266 Coronal craniosynostosis Human_Phenotype_Ontology:HP:0002675,Human_Phenotype_Ontology:HP:0002685,Human_Phenotype_Ontology:HP:0002739,Human_Phenotype_Ontology:HP:0004440,Human_Phenotype_Ontology:HP:0004441,MedGen:C1856266 1 1 1.0000 condition_record_support_limited 20 0 0 Coronal_craniosynostosis 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCF12 common_craniosynostosis_syndromes Common craniosynostosis syndromes . 1 1 1.0000 condition_record_support_limited 20 0 0 Common_craniosynostosis_syndromes 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TCERG1 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 1 low_record_burden_interpretation_limited low_record_burden_gene TCEAL1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 12 low_record_burden_interpretation_limited low_record_burden_gene TCAP efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 35 compact_adjacent_exon_block_opportunity local_compact_architecture TCAP human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Elevated circulating creatine kinase concentration Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 1 1 1.0000 condition_record_support_limited 20 0 1 Elevated_circulating_creatine_kinase_concentration 35 compact_adjacent_exon_block_opportunity local_compact_architecture TBXT condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene TBXT mondo_mondo_0014314_medgen_c3810343_omim_615709_orphanet_397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome MONDO:MONDO:0014314,MedGen:C3810343,OMIM:615709,Orphanet:397927 1 1 1.0000 condition_record_support_limited 20 0 0 Sacral_agenesis-abnormal_ossification_of_the_vertebral_bodies-persistent_notochordal_canal_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene TBXAS1 mondo_mondo_0013597_medgen_c0398635_omim_614158 Thromboxane synthetase deficiency MONDO:MONDO:0013597,MedGen:C0398635,OMIM:614158 1 1 1.0000 condition_record_support_limited 20 0 1 Thromboxane_synthetase_deficiency 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBXAS1 tbxas1_related_disorder TBXAS1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TBXAS1-related_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBXA2R condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene TBXA2R human_phenotype_ontology_hp_0030402_medgen_c0541767 Abnormal platelet aggregation Human_Phenotype_Ontology:HP:0030402,MedGen:C0541767 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_platelet_aggregation 4 low_record_burden_interpretation_limited low_record_burden_gene TBX6 mondo_mondo_0012097_medgen_c1837549_omim_608681_orphanet_2311 Spondylocostal dysostosis 2, autosomal recessive MONDO:MONDO:0012097,MedGen:C1837549,OMIM:608681,Orphanet:2311 1 1 1.0000 condition_record_support_limited 20 0 1 Spondylocostal_dysostosis_2,_autosomal_recessive 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX5 human_phenotype_ontology_hp_0001629_human_phenotype_ontology_hp_0001652_mondo_mondo_0002070_medgen_c0018818_omim_ps614429 Ventricular septal defect Human_Phenotype_Ontology:HP:0001629,Human_Phenotype_Ontology:HP:0001652,MONDO:MONDO:0002070,MedGen:C0018818,OMIM:PS614429 1 1 1.0000 condition_record_support_limited 20 0 1 Ventricular_septal_defect 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX5 human_phenotype_ontology_hp_0001172_mondo_mondo_0008561_medgen_c0575897_omim_188100 Thumb deformity Human_Phenotype_Ontology:HP:0001172,MONDO:MONDO:0008561,MedGen:C0575897,OMIM:188100 1 1 1.0000 condition_record_support_limited 20 0 1 Thumb_deformity 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX5 human_phenotype_ontology_hp_0001245_human_phenotype_ontology_hp_0006188_medgen_c1846474 Small thenar eminence Human_Phenotype_Ontology:HP:0001245,Human_Phenotype_Ontology:HP:0006188,MedGen:C1846474 1 1 1.0000 condition_record_support_limited 20 0 1 Small_thenar_eminence 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX5 efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX5 human_phenotype_ontology_hp_0001653_mondo_mondo_1030008_medgen_c0026266 Mitral regurgitation Human_Phenotype_Ontology:HP:0001653,MONDO:MONDO:1030008,MedGen:C0026266 1 1 1.0000 condition_record_support_limited 20 0 1 Mitral_regurgitation 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX5 mondo_mondo_0020290_medgen_cn029142_omim_ps606215_orphanet_98722 Familial atrioventricular septal defect MONDO:MONDO:0020290,MedGen:CN029142,OMIM:PS606215,Orphanet:98722 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_atrioventricular_septal_defect 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX5 human_phenotype_ontology_hp_0100759_medgen_c0009080 Clubbing of fingers Human_Phenotype_Ontology:HP:0100759,MedGen:C0009080 1 1 1.0000 condition_record_support_limited 20 0 1 Clubbing_of_fingers 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX5 human_phenotype_ontology_hp_0100814_mondo_mondo_0006680_medgen_c0206736 Blue nevus Human_Phenotype_Ontology:HP:0100814,MONDO:MONDO:0006680,MedGen:C0206736 1 1 1.0000 condition_record_support_limited 20 0 1 Blue_nevus 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX5 human_phenotype_ontology_hp_0001684_human_phenotype_ontology_hp_0200131_mondo_mondo_0020434_medgen_c0344724_orphanet_99103 Atrial septal defect, ostium secundum type Human_Phenotype_Ontology:HP:0001684,Human_Phenotype_Ontology:HP:0200131,MONDO:MONDO:0020434,MedGen:C0344724,Orphanet:99103 1 1 1.0000 condition_record_support_limited 20 0 1 Atrial_septal_defect,_ostium_secundum_type 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX5 mondo_mondo_0007172_medgen_c1862389_omim_108800_orphanet_1478 Atrial septal defect 1 MONDO:MONDO:0007172,MedGen:C1862389,OMIM:108800,Orphanet:1478 1 1 1.0000 condition_record_support_limited 20 0 1 Atrial_septal_defect_1 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX5 human_phenotype_ontology_hp_0001630_human_phenotype_ontology_hp_0001631_mondo_mondo_0006664_medgen_c0018817_omim_ps108800_orphanet_1478 Atrial septal defect Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478 1 1 1.0000 condition_record_support_limited 20 0 1 Atrial_septal_defect 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX5 human_phenotype_ontology_hp_0410049_medgen_c4228778 Abnormal radial ray morphology Human_Phenotype_Ontology:HP:0410049,MedGen:C4228778 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_radial_ray_morphology 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX4 human_phenotype_ontology_hp_0002089_mondo_mondo_0800133_medgen_c0265783 Pulmonary hypoplasia Human_Phenotype_Ontology:HP:0002089,MONDO:MONDO:0800133,MedGen:C0265783 1 1 1.0000 condition_record_support_limited 20 0 1 Pulmonary_hypoplasia 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX4 mondo_mondo_0009936_medgen_c0456891_omim_265430_orphanet_2257 Primary pulmonary hypoplasia MONDO:MONDO:0009936,MedGen:C0456891,OMIM:265430,Orphanet:2257 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_pulmonary_hypoplasia 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX4 human_phenotype_ontology_hp_0004383_mondo_mondo_0004933_medgen_c0152101_omim_ps241550_orphanet_2248 Hypoplastic left heart syndrome Human_Phenotype_Ontology:HP:0004383,MONDO:MONDO:0004933,MedGen:C0152101,OMIM:PS241550,Orphanet:2248 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplastic_left_heart_syndrome 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX4 human_phenotype_ontology_hp_0000072_human_phenotype_ontology_hp_0006003_medgen_c0521620 Hydroureter Human_Phenotype_Ontology:HP:0000072,Human_Phenotype_Ontology:HP:0006003,MedGen:C0521620 1 1 1.0000 condition_record_support_limited 20 0 1 Hydroureter 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX4 human_phenotype_ontology_hp_0000126_mondo_mondo_0005510_medgen_c0020295 Hydronephrosis Human_Phenotype_Ontology:HP:0000126,MONDO:MONDO:0005510,MedGen:C0020295 1 1 1.0000 condition_record_support_limited 20 0 1 Hydronephrosis 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX4 human_phenotype_ontology_hp_0006493_medgen_c4025037 Aplasia/hypoplasia involving bones of the lower limbs Human_Phenotype_Ontology:HP:0006493,MedGen:C4025037 1 1 1.0000 condition_record_support_limited 20 0 1 Aplasia/hypoplasia_involving_bones_of_the_lower_limbs 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX4 human_phenotype_ontology_hp_0010305_medgen_c0344490 Absence of the sacrum Human_Phenotype_Ontology:HP:0010305,MedGen:C0344490 1 1 1.0000 condition_record_support_limited 20 0 1 Absence_of_the_sacrum 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX4 human_phenotype_ontology_hp_0001197_medgen_c4025797 Abnormality of prenatal development or birth Human_Phenotype_Ontology:HP:0001197,MedGen:C4025797 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_prenatal_development_or_birth 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX21 mondo_mondo_0030483_medgen_c5562026_omim_619630 Immunodeficiency 88 MONDO:MONDO:0030483,MedGen:C5562026,OMIM:619630 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_88 1 low_record_burden_interpretation_limited low_record_burden_gene TBX20 human_phenotype_ontology_hp_0001716_mondo_mondo_0008685_medgen_c0043202_omim_194200 Wolff-Parkinson-White pattern Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200 1 1 1.0000 condition_record_support_limited 20 0 1 Wolff-Parkinson-White_pattern 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX20 efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_dilated_cardiomyopathy 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX20 mondo_mondo_0020291_medgen_c0344963_orphanet_98723 Hypoplastic right heart syndrome MONDO:MONDO:0020291,MedGen:C0344963,Orphanet:98723 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplastic_right_heart_syndrome 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX20 human_phenotype_ontology_hp_0004383_mondo_mondo_0004933_medgen_c0152101_omim_ps241550_orphanet_2248 Hypoplastic left heart syndrome Human_Phenotype_Ontology:HP:0004383,MONDO:MONDO:0004933,MedGen:C0152101,OMIM:PS241550,Orphanet:2248 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplastic_left_heart_syndrome 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX20 mondo_mondo_0024523_medgen_c3887892_omim_109730 Aortic valve disease 1 MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730 1 1 1.0000 condition_record_support_limited 20 0 1 Aortic_valve_disease_1 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX19 tbx19_related_disorder TBX19-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TBX19-related_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX19 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBX1 mondo_mondo_0007846_medgen_c0220687_omim_148050_orphanet_2332 KBG syndrome MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332 1 1 1.0000 condition_record_support_limited 20 0 0 KBG_syndrome 56 compact_adjacent_exon_block_opportunity local_compact_architecture TBX1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 56 compact_adjacent_exon_block_opportunity local_compact_architecture TBX1 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 1.0000 condition_record_support_limited 20 0 0 Hypertrophic_cardiomyopathy 56 compact_adjacent_exon_block_opportunity local_compact_architecture TBRG1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene TBR1 marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 1 1 1.0000 condition_record_support_limited 20 0 1 Marfanoid_habitus_and_intellectual_disability 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 human_phenotype_ontology_hp_0045084_medgen_c4477055 Limb myoclonus Human_Phenotype_Ontology:HP:0045084,MedGen:C4477055 1 1 1.0000 condition_record_support_limited 20 0 1 Limb_myoclonus 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 mondo_mondo_0032864_medgen_c5231456_omim_618672 Intellectual developmental disorder with speech delay, autism, and dysmorphic facies MONDO:MONDO:0032864,MedGen:C5231456,OMIM:618672 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_developmental_disorder_with_speech_delay,_autism,_and_dysmorphic_facies 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 human_phenotype_ontology_hp_0000732_medgen_c5826341 Inflexible adherence to routines Human_Phenotype_Ontology:HP:0000732,MedGen:C5826341 1 1 1.0000 condition_record_support_limited 20 0 1 Inflexible_adherence_to_routines 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 human_phenotype_ontology_hp_0025517_medgen_c4476822 Hypoplastic hippocampus Human_Phenotype_Ontology:HP:0025517,MedGen:C4476822 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplastic_hippocampus 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 human_phenotype_ontology_hp_0030303_medgen_c4022524 Hypoplastic anterior commissure Human_Phenotype_Ontology:HP:0030303,MedGen:C4022524 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplastic_anterior_commissure 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 human_phenotype_ontology_hp_0002424_human_phenotype_ontology_hp_0007333_medgen_c1849172 Hypoplasia of the frontal lobes Human_Phenotype_Ontology:HP:0002424,Human_Phenotype_Ontology:HP:0007333,MedGen:C1849172 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplasia_of_the_frontal_lobes 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 human_phenotype_ontology_hp_0002066_human_phenotype_ontology_hp_0002379_medgen_c0751837 Gait ataxia Human_Phenotype_Ontology:HP:0002066,Human_Phenotype_Ontology:HP:0002379,MedGen:C0751837 1 1 1.0000 condition_record_support_limited 20 0 1 Gait_ataxia 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 human_phenotype_ontology_hp_0032046_medgen_c2938983 Focal cortical dysplasia Human_Phenotype_Ontology:HP:0032046,MedGen:C2938983 1 1 1.0000 condition_record_support_limited 20 0 1 Focal_cortical_dysplasia 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 human_phenotype_ontology_hp_0001346_human_phenotype_ontology_hp_0002353_human_phenotype_ontology_hp_0002429_human_phenotype_ontology_hp_0006841_medgen_c0151611 EEG abnormality Human_Phenotype_Ontology:HP:0001346,Human_Phenotype_Ontology:HP:0002353,Human_Phenotype_Ontology:HP:0002429,Human_Phenotype_Ontology:HP:0006841,MedGen:C0151611 1 1 1.0000 condition_record_support_limited 20 0 1 EEG_abnormality 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 human_phenotype_ontology_hp_0002539_human_phenotype_ontology_hp_0007139_mondo_mondo_0017094_medgen_c0431380_orphanet_268950 Cortical dysplasia Human_Phenotype_Ontology:HP:0002539,Human_Phenotype_Ontology:HP:0007139,MONDO:MONDO:0017094,MedGen:C0431380,Orphanet:268950 1 1 1.0000 condition_record_support_limited 20 0 1 Cortical_dysplasia 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Atypical behavior Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 1 1 1.0000 condition_record_support_limited 20 0 1 Atypical_behavior 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 human_phenotype_ontology_hp_0007003_human_phenotype_ontology_hp_0007060_human_phenotype_ontology_hp_0007061_human_phenotype_ontology_hp_0007137_human_phenotype_ontology_hp_0007370_medgen_c1861866 Aplasia/Hypoplasia of the corpus callosum Human_Phenotype_Ontology:HP:0007003,Human_Phenotype_Ontology:HP:0007060,Human_Phenotype_Ontology:HP:0007061,Human_Phenotype_Ontology:HP:0007137,Human_Phenotype_Ontology:HP:0007370,MedGen:C1861866 1 1 1.0000 condition_record_support_limited 20 0 1 Aplasia/Hypoplasia_of_the_corpus_callosum 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Absent speech Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 1.0000 condition_record_support_limited 20 0 1 Absent_speech 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBR1 human_phenotype_ontology_hp_0012747_medgen_c4022749 Abnormal brainstem MRI signal intensity Human_Phenotype_Ontology:HP:0012747,MedGen:C4022749 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brainstem_MRI_signal_intensity 69 compact_adjacent_exon_block_opportunity local_compact_architecture TBL1XR1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBL1XR1 mondo_mondo_0016581_medgen_c1857586_omim_217095_orphanet_2445_orphanet_3384_orphanet_3426 Conotruncal heart malformations MONDO:MONDO:0016581,MedGen:C1857586,OMIM:217095,Orphanet:2445,Orphanet:3384,Orphanet:3426 1 1 1.0000 condition_record_support_limited 20 0 0 Conotruncal_heart_malformations 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBL1X mondo_mondo_0026731_medgen_c5231395_omim_301033 Hypothyroidism, congenital, nongoitrous, 8 MONDO:MONDO:0026731,MedGen:C5231395,OMIM:301033 1 1 1.0000 condition_record_support_limited 20 0 0 Hypothyroidism,_congenital,_nongoitrous,_8 1 low_record_burden_interpretation_limited low_record_burden_gene TBK1 mondo_mondo_0015059_medgen_c0751706_orphanet_100070 Primary progressive non fluent aphasia MONDO:MONDO:0015059,MedGen:C0751706,Orphanet:100070 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_progressive_non_fluent_aphasia 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBK1 mondo_mondo_0100553_medgen_c0339573_omim_137760 Primary open angle glaucoma MONDO:MONDO:0100553,MedGen:C0339573,OMIM:137760 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_open_angle_glaucoma 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBK1 mondo_mondo_0020128_medgen_c0085084_orphanet_98503 Motor neuron disease MONDO:MONDO:0020128,MedGen:C0085084,Orphanet:98503 1 1 1.0000 condition_record_support_limited 20 0 1 Motor_neuron_disease 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBK1 medgen_c1135954 Incidental Discovery MedGen:C1135954 1 1 1.0000 condition_record_support_limited 20 0 1 Incidental_Discovery 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBK1 mondo_mondo_0024563_medgen_c2750180_omim_610551_orphanet_1930 Herpes simplex encephalitis, susceptibility to, 1 MONDO:MONDO:0024563,MedGen:C2750180,OMIM:610551,Orphanet:1930 1 1 1.0000 condition_record_support_limited 20 0 1 Herpes_simplex_encephalitis,_susceptibility_to,_1 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBK1 mondo_mondo_0018696_medgen_c5575119_orphanet_454887 Corticobasal syndrome MONDO:MONDO:0018696,MedGen:C5575119,Orphanet:454887 1 1 1.0000 condition_record_support_limited 20 0 1 Corticobasal_syndrome 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCK medgen_c3278382 Ventral septal defect MedGen:C3278382 1 1 1.0000 condition_record_support_limited 20 0 1 Ventral_septal_defect 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCK human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCK mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCK human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCK mondo_mondo_0024567_medgen_c3809454_omim_615419_orphanet_371364_orphanet_700336 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 MONDO:MONDO:0024567,MedGen:C3809454,OMIM:615419,Orphanet:371364,Orphanet:700336 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_1 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCK human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCK medgen_c1737329 Dysmorphism MedGen:C1737329 1 1 1.0000 condition_record_support_limited 20 0 1 Dysmorphism 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCK delayed_reflexes Delayed reflexes . 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_reflexes 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCE mondo_mondo_0002145_medgen_c2930619_orphanet_90771 Disorder of sexual differentiation MONDO:MONDO:0002145,MedGen:C2930619,Orphanet:90771 1 1 1.0000 condition_record_support_limited 20 0 1 Disorder_of_sexual_differentiation 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCD mondo_mondo_0012446_medgen_c1853258_omim_610227_orphanet_168606 Seborrhea-like dermatitis with psoriasiform elements MONDO:MONDO:0012446,MedGen:C1853258,OMIM:610227,Orphanet:168606 1 1 1.0000 condition_record_support_limited 20 0 0 Seborrhea-like_dermatitis_with_psoriasiform_elements 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBCD mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D32 tbc1d32_related_disorder TBC1D32-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 TBC1D32-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene TBC1D32 mondo_mondo_0032902_medgen_c5231493_omim_618763 Joubert syndrome 36 MONDO:MONDO:0032902,MedGen:C5231493,OMIM:618763 1 1 1.0000 condition_record_support_limited 20 0 0 Joubert_syndrome_36 19 low_record_burden_interpretation_limited low_record_burden_gene TBC1D32 mondo_mondo_0008136_medgen_c1833797_omim_165550_orphanet_637061 Isolated optic nerve hypoplasia MONDO:MONDO:0008136,MedGen:C1833797,OMIM:165550,Orphanet:637061 1 1 1.0000 condition_record_support_limited 20 0 0 Isolated_optic_nerve_hypoplasia 19 low_record_burden_interpretation_limited low_record_burden_gene TBC1D32 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 19 low_record_burden_interpretation_limited low_record_burden_gene TBC1D32 human_phenotype_ontology_hp_0040075_mondo_mondo_0005152_medgen_c0020635 Hypopituitarism Human_Phenotype_Ontology:HP:0040075,MONDO:MONDO:0005152,MedGen:C0020635 1 1 1.0000 condition_record_support_limited 20 0 1 Hypopituitarism 19 low_record_burden_interpretation_limited low_record_burden_gene TBC1D32 mondo_mondo_0005308_medgen_c4277690_orphanet_363250 Ciliopathy MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 1 1 1.0000 condition_record_support_limited 20 0 1 Ciliopathy 19 low_record_burden_interpretation_limited low_record_burden_gene TBC1D31 medgen_c1844502_omim_305690 Inherited genitourinary tract anomalies MedGen:C1844502,OMIM:305690 1 1 1.0000 condition_record_support_limited 20 0 0 Inherited_genitourinary_tract_anomalies 1 low_record_burden_interpretation_limited low_record_burden_gene TBC1D25 mondo_mondo_0001913_mesh_d009845_medgen_c0028960 Oligospermia MONDO:MONDO:0001913,MeSH:D009845,MedGen:C0028960 1 1 1.0000 condition_record_support_limited 20 0 0 Oligospermia 1 low_record_burden_interpretation_limited low_record_burden_gene TBC1D24 developmental_delay_with_seizures developmental delay with seizures . 1 1 1.0000 condition_record_support_limited 20 0 1 developmental_delay_with_seizures 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D24 human_phenotype_ontology_hp_0001328_human_phenotype_ontology_hp_0007234_mondo_mondo_0016225_medgen_c4025790_orphanet_211047 Specific learning disability Human_Phenotype_Ontology:HP:0001328,Human_Phenotype_Ontology:HP:0007234,MONDO:MONDO:0016225,MedGen:C4025790,Orphanet:211047 1 1 1.0000 condition_record_support_limited 20 0 1 Specific_learning_disability 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D24 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D24 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D24 human_phenotype_ontology_hp_0001294_human_phenotype_ontology_hp_0100022_mondo_mondo_0005395_medgen_c0026650 Movement disorder Human_Phenotype_Ontology:HP:0001294,Human_Phenotype_Ontology:HP:0100022,MONDO:MONDO:0005395,MedGen:C0026650 1 1 1.0000 condition_record_support_limited 20 0 1 Movement_disorder 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D24 monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D24 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D24 human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Cerebellar atrophy Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_atrophy 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D24 medgen_c2732267 Auditory neuropathy spectrum disorder MedGen:C2732267 1 1 1.0000 condition_record_support_limited 20 0 0 Auditory_neuropathy_spectrum_disorder 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D24 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TBC1D23 hp_0000750_hp_0001263 HP:0000750; HP:0001263 . 1 1 1.0000 condition_record_support_limited 20 0 0 HP:0000750%3B_HP:0001263 14 low_record_burden_interpretation_limited low_record_burden_gene TBC1D20 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 6 low_record_burden_interpretation_limited low_record_burden_gene TBATA mondo_mondo_0007723_medgen_c3888239_omim_142623_orphanet_388 Hirschsprung disease, susceptibility to, 1 MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388 1 1 1.0000 condition_record_support_limited 20 0 0 Hirschsprung_disease,_susceptibility_to,_1 1 low_record_burden_interpretation_limited low_record_burden_gene TASP1 human_phenotype_ontology_hp_0040082_medgen_c1856115 Happy demeanor Human_Phenotype_Ontology:HP:0040082,MedGen:C1856115 1 1 1.0000 condition_record_support_limited 20 0 1 Happy_demeanor 4 low_record_burden_interpretation_limited low_record_burden_gene TASP1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 4 low_record_burden_interpretation_limited low_record_burden_gene TASP1 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 4 low_record_burden_interpretation_limited low_record_burden_gene TARS1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene TARDBP human_phenotype_ontology_hp_0002145_mondo_mondo_0017276_medgen_c0338451_omim_600274_orphanet_282 Frontotemporal dementia Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282 1 1 1.0000 condition_record_support_limited 20 0 0 Frontotemporal_dementia 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAPBPL vamp1_related_disorder VAMP1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 VAMP1-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene TAPBPL mondo_mondo_0014605_medgen_c4225352_omim_616362_orphanet_457284 Houge-Janssens syndrome 2 MONDO:MONDO:0014605,MedGen:C4225352,OMIM:616362,Orphanet:457284 1 1 1.0000 condition_record_support_limited 20 0 1 Houge-Janssens_syndrome_2 13 low_record_burden_interpretation_limited low_record_burden_gene TAPBP mondo_mondo_0971012_medgen_c5935618_omim_620814 MHC class I deficiency 3 MONDO:MONDO:0971012,MedGen:C5935618,OMIM:620814 1 1 1.0000 condition_record_support_limited 20 0 0 MHC_class_I_deficiency_3 1 low_record_burden_interpretation_limited low_record_burden_gene TAP1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 29 compact_adjacent_exon_block_opportunity local_compact_architecture TAOK2 taok2_associated_neurodevelopmental_disorder TAOK2-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 TAOK2-associated_neurodevelopmental_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene TAOK1 human_phenotype_ontology_hp_0001205_human_phenotype_ontology_hp_0004208_human_phenotype_ontology_hp_0004210_human_phenotype_ontology_hp_0004211_human_phenotype_ontology_hp_0004215_human_phenotype_ontology_hp_0004217_human_phenotype_ontology_hp_0005804_human_phenotype_ontology_hp_0005888_human_phenotype_ontology_hp_0009237_medgen_c1842878 Short 5th finger Human_Phenotype_Ontology:HP:0001205,Human_Phenotype_Ontology:HP:0004208,Human_Phenotype_Ontology:HP:0004210,Human_Phenotype_Ontology:HP:0004211,Human_Phenotype_Ontology:HP:0004215,Human_Phenotype_Ontology:HP:0004217,Human_Phenotype_Ontology:HP:0005804,Human_Phenotype_Ontology:HP:0005888,Human_Phenotype_Ontology:HP:0009237,MedGen:C1842878 1 1 1.0000 condition_record_support_limited 20 0 1 Short_5th_finger 72 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAOK1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 72 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAOK1 human_phenotype_ontology_hp_0000158_human_phenotype_ontology_hp_0000203_mondo_mondo_0015496_medgen_c0024421_orphanet_156207 Macroglossia Human_Phenotype_Ontology:HP:0000158,Human_Phenotype_Ontology:HP:0000203,MONDO:MONDO:0015496,MedGen:C0024421,Orphanet:156207 1 1 1.0000 condition_record_support_limited 20 0 1 Macroglossia 72 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAOK1 mondo_mondo_0032680_medgen_c5193032_omim_618330 Global developmental delay with or without impaired intellectual development MONDO:MONDO:0032680,MedGen:C5193032,OMIM:618330 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay_with_or_without_impaired_intellectual_development 72 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAOK1 human_phenotype_ontology_hp_0000271_medgen_c4025871 Abnormality of the face Human_Phenotype_Ontology:HP:0000271,MedGen:C4025871 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_face 72 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TANGO2 tango2_related_disorder TANGO2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TANGO2-related_disorder 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TANGO2 metabolic_crises_with_rhabdomyolysis_cardiac_arrhythmias_and_neurodegeneration Metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration . 1 1 1.0000 condition_record_support_limited 20 0 1 Metabolic_crises_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TANGO2 human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TANC2 tanc2_related_disorder TANC2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 TANC2-related_disorder 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TANC2 intellectual_disability_with_multiple_congenital_anomalies Intellectual Disability with multiple congenital anomalies . 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_Disability_with_multiple_congenital_anomalies 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TANC2 intellectual_developmental_disorder_with_autistic_features_and_language_delay_with_seizures INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES . 1 1 1.0000 condition_record_support_limited 20 0 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_WITH_AUTISTIC_FEATURES_AND_LANGUAGE_DELAY_WITH_SEIZURES 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture TAFAZZIN efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAFAZZIN human_phenotype_ontology_hp_0011664_medgen_c4021133 Left ventricular noncompaction cardiomyopathy Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 1 1 1.0000 condition_record_support_limited 20 0 0 Left_ventricular_noncompaction_cardiomyopathy 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAF8 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene TAF8 taf8_related_disorder TAF8-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TAF8-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene TAF8 human_phenotype_ontology_hp_0011344_medgen_c1837397 Severe global developmental delay Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_global_developmental_delay 8 low_record_burden_interpretation_limited low_record_burden_gene TAF8 human_phenotype_ontology_hp_0001338_human_phenotype_ontology_hp_0006982_human_phenotype_ontology_hp_0007090_human_phenotype_ontology_hp_0007128_medgen_c0431368 Partial agenesis of the corpus callosum Human_Phenotype_Ontology:HP:0001338,Human_Phenotype_Ontology:HP:0006982,Human_Phenotype_Ontology:HP:0007090,Human_Phenotype_Ontology:HP:0007128,MedGen:C0431368 1 1 1.0000 condition_record_support_limited 20 0 1 Partial_agenesis_of_the_corpus_callosum 8 low_record_burden_interpretation_limited low_record_burden_gene TAF8 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 8 low_record_burden_interpretation_limited low_record_burden_gene TAF7L mondo_mondo_0957202_medgen_c5829567_omim_301106 Spermatogenic failure, X-linked, 7 MONDO:MONDO:0957202,MedGen:C5829567,OMIM:301106 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure,_X-linked,_7 1 low_record_burden_interpretation_limited low_record_burden_gene TAF6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 5 low_record_burden_interpretation_limited low_record_burden_gene TAF6 mondo_mondo_0007387_medgen_c4551851_omim_122470_orphanet_199 Cornelia de Lange syndrome 1 MONDO:MONDO:0007387,MedGen:C4551851,OMIM:122470,Orphanet:199 1 1 1.0000 condition_record_support_limited 20 0 1 Cornelia_de_Lange_syndrome_1 5 low_record_burden_interpretation_limited low_record_burden_gene TAF4B mondo_mondo_0014365_medgen_c4014449_omim_615841 Spermatogenic failure 13 MONDO:MONDO:0014365,MedGen:C4014449,OMIM:615841 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_13 1 low_record_burden_interpretation_limited low_record_burden_gene TAF4 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene TAF2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene TAF1 taf1_related_syndromic_intellectual_disability TAF1-related syndromic intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 1 TAF1-related_syndromic_intellectual_disability 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAF1 taf1_related_disorder TAF1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TAF1-related_disorder 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAF1 speech_and_developmental_delays Speech and developmental delays . 1 1 1.0000 condition_record_support_limited 20 0 0 Speech_and_developmental_delays 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAF1 marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 1 1 1.0000 condition_record_support_limited 20 0 1 Marfanoid_habitus_and_intellectual_disability 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TACR3 mondo_mondo_0007794_medgen_c0342384_omim_146110_orphanet_432 Hypogonadotropic hypogonadism 7 with or without anosmia MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432 1 1 1.0000 condition_record_support_limited 20 0 0 Hypogonadotropic_hypogonadism_7_with_or_without_anosmia 18 low_record_burden_interpretation_limited low_record_burden_gene TACR3 human_phenotype_ontology_hp_0000823_human_phenotype_ontology_hp_0008859_human_phenotype_ontology_hp_0010466_human_phenotype_ontology_hp_0010467_medgen_c0034012 Delayed puberty Human_Phenotype_Ontology:HP:0000823,Human_Phenotype_Ontology:HP:0008859,Human_Phenotype_Ontology:HP:0010466,Human_Phenotype_Ontology:HP:0010467,MedGen:C0034012 1 1 1.0000 condition_record_support_limited 20 0 0 Delayed_puberty 18 low_record_burden_interpretation_limited low_record_burden_gene TACR3 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene TACR3 human_phenotype_ontology_hp_0008197_medgen_c1846228 Absence of pubertal development Human_Phenotype_Ontology:HP:0008197,MedGen:C1846228 1 1 1.0000 condition_record_support_limited 20 0 1 Absence_of_pubertal_development 18 low_record_burden_interpretation_limited low_record_burden_gene TACO1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 16 low_record_burden_interpretation_limited low_record_burden_gene TAC3 mondo_mondo_0007794_medgen_c0342384_omim_146110_orphanet_432 Hypogonadotropic hypogonadism 7 with or without anosmia MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432 1 1 1.0000 condition_record_support_limited 20 0 1 Hypogonadotropic_hypogonadism_7_with_or_without_anosmia 4 low_record_burden_interpretation_limited low_record_burden_gene TAC3 mondo_mondo_0013912_medgen_c3553843_omim_614839_orphanet_432 Hypogonadotropic hypogonadism 10 with or without anosmia MONDO:MONDO:0013912,MedGen:C3553843,OMIM:614839,Orphanet:432 1 1 1.0000 condition_record_support_limited 20 0 0 Hypogonadotropic_hypogonadism_10_with_or_without_anosmia 4 low_record_burden_interpretation_limited low_record_burden_gene TAC3 medgen_c4016274 HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA MedGen:C4016274 1 1 1.0000 condition_record_support_limited 20 0 1 HYPOGONADOTROPIC_HYPOGONADISM_10_WITHOUT_ANOSMIA 4 low_record_burden_interpretation_limited low_record_burden_gene TAC3 human_phenotype_ontology_hp_0000823_human_phenotype_ontology_hp_0008859_human_phenotype_ontology_hp_0010466_human_phenotype_ontology_hp_0010467_medgen_c0034012 Delayed puberty Human_Phenotype_Ontology:HP:0000823,Human_Phenotype_Ontology:HP:0008859,Human_Phenotype_Ontology:HP:0010466,Human_Phenotype_Ontology:HP:0010467,MedGen:C0034012 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_puberty 4 low_record_burden_interpretation_limited low_record_burden_gene TAB2 human_phenotype_ontology_hp_0010992_medgen_c0042025 Stress urinary incontinence Human_Phenotype_Ontology:HP:0010992,MedGen:C0042025 1 1 1.0000 condition_record_support_limited 20 0 1 Stress_urinary_incontinence 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAB2 human_phenotype_ontology_hp_0002035_mondo_mondo_0004754_medgen_c0034888 Rectal prolapse Human_Phenotype_Ontology:HP:0002035,MONDO:MONDO:0004754,MedGen:C0034888 1 1 1.0000 condition_record_support_limited 20 0 1 Rectal_prolapse 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAB2 efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAB2 mondo_mondo_0016460_medgen_c4509918_orphanet_228410 Polyvalvular heart disease syndrome MONDO:MONDO:0016460,MedGen:C4509918,Orphanet:228410 1 1 1.0000 condition_record_support_limited 20 0 1 Polyvalvular_heart_disease_syndrome 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAB2 human_phenotype_ontology_hp_0002076_human_phenotype_ontology_hp_0007194_mondo_mondo_0005277_medgen_c0149931 Migraine Human_Phenotype_Ontology:HP:0002076,Human_Phenotype_Ontology:HP:0007194,MONDO:MONDO:0005277,MedGen:C0149931 1 1 1.0000 condition_record_support_limited 20 0 1 Migraine 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAB2 human_phenotype_ontology_hp_0001298_medgen_c0085584 Encephalopathy Human_Phenotype_Ontology:HP:0001298,MedGen:C0085584 1 1 1.0000 condition_record_support_limited 20 0 1 Encephalopathy 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAB2 mondo_mondo_0971094_medgen_c5925073_orphanet_664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation MONDO:MONDO:0971094,MedGen:C5925073,Orphanet:664401 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiac_anomalies-short_stature-joint_hypermobility-facial_dysmorphism_syndrome_due_to_TAB2_mutation 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAB2 human_phenotype_ontology_hp_0001647_medgen_c0149630 Bicuspid aortic valve Human_Phenotype_Ontology:HP:0001647,MedGen:C0149630 1 1 1.0000 condition_record_support_limited 20 0 1 Bicuspid_aortic_valve 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture TAB2 human_phenotype_ontology_hp_0001684_human_phenotype_ontology_hp_0200131_mondo_mondo_0020434_medgen_c0344724_orphanet_99103 Atrial septal defect, ostium secundum type Human_Phenotype_Ontology:HP:0001684,Human_Phenotype_Ontology:HP:0200131,MONDO:MONDO:0020434,MedGen:C0344724,Orphanet:99103 1 1 1.0000 condition_record_support_limited 20 0 1 Atrial_septal_defect,_ostium_secundum_type 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SZT2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 0 Seizure 188 large_gene_or_donor_burden_stress_case donor_burden_stress SZT2 mondo_mondo_0010053_medgen_c2678338_omim_270970_orphanet_822 Hereditary spherocytosis type 3 MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_spherocytosis_type_3 188 large_gene_or_donor_burden_stress_case donor_burden_stress SYTL5 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene SYT2 syt2_related_disorder SYT2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SYT2-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene SYT2 human_phenotype_ontology_hp_0002098_human_phenotype_ontology_hp_0002880_medgen_c0476273 Respiratory distress Human_Phenotype_Ontology:HP:0002098,Human_Phenotype_Ontology:HP:0002880,MedGen:C0476273 1 1 1.0000 condition_record_support_limited 20 0 1 Respiratory_distress 17 low_record_burden_interpretation_limited low_record_burden_gene SYT2 human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Muscle weakness Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 1 1 1.0000 condition_record_support_limited 20 0 1 Muscle_weakness 17 low_record_burden_interpretation_limited low_record_burden_gene SYT2 mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 Congenital myasthenic syndrome MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_myasthenic_syndrome 17 low_record_burden_interpretation_limited low_record_burden_gene SYT14 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene SYT14 mondo_mondo_0013645_medgen_c5190803_omim_614229_orphanet_284271 Autosomal recessive spinocerebellar ataxia 11 MONDO:MONDO:0013645,MedGen:C5190803,OMIM:614229,Orphanet:284271 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_spinocerebellar_ataxia_11 2 low_record_burden_interpretation_limited low_record_burden_gene SYT1 mondo_mondo_0000508_medgen_c5680525_orphanet_183763 Syndromic intellectual disability MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 1.0000 condition_record_support_limited 20 0 0 Syndromic_intellectual_disability 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYT1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYP human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 11 low_record_burden_interpretation_limited low_record_burden_gene SYNJ1 mondo_mondo_0017279_medgen_c4275179_orphanet_2828 Young-onset Parkinson disease MONDO:MONDO:0017279,MedGen:C4275179,Orphanet:2828 1 1 1.0000 condition_record_support_limited 20 0 1 Young-onset_Parkinson_disease 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNJ1 synj1_related_disorder SYNJ1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SYNJ1-related_disorder 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNJ1 mondo_mondo_0010632_medgen_c3463992_omim_308350 Developmental and epileptic encephalopathy, 1 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_1 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 human_phenotype_ontology_hp_0000424_human_phenotype_ontology_hp_0000431_human_phenotype_ontology_hp_0004500_human_phenotype_ontology_hp_0004504_human_phenotype_ontology_hp_0004650_human_phenotype_ontology_hp_0200139_medgen_c1849367 Wide nasal bridge Human_Phenotype_Ontology:HP:0000424,Human_Phenotype_Ontology:HP:0000431,Human_Phenotype_Ontology:HP:0004500,Human_Phenotype_Ontology:HP:0004504,Human_Phenotype_Ontology:HP:0004650,Human_Phenotype_Ontology:HP:0200139,MedGen:C1849367 1 1 1.0000 condition_record_support_limited 20 0 1 Wide_nasal_bridge 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 human_phenotype_ontology_hp_0000325_human_phenotype_ontology_hp_0004645_human_phenotype_ontology_hp_0004662_human_phenotype_ontology_hp_0004668_medgen_c1835884 Triangular face Human_Phenotype_Ontology:HP:0000325,Human_Phenotype_Ontology:HP:0004645,Human_Phenotype_Ontology:HP:0004662,Human_Phenotype_Ontology:HP:0004668,MedGen:C1835884 1 1 1.0000 condition_record_support_limited 20 0 1 Triangular_face 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 syngap1_related_encephalopathy SYNGAP1-related encephalopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 SYNGAP1-related_encephalopathy 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 syngap1_related_complex_neurodevelopmental_disorder SYNGAP1-related complex neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SYNGAP1-related_complex_neurodevelopmental_disorder 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 human_phenotype_ontology_hp_0000508_mondo_mondo_0000728_medgen_c0005745 Ptosis Human_Phenotype_Ontology:HP:0000508,MONDO:MONDO:0000728,MedGen:C0005745 1 1 1.0000 condition_record_support_limited 20 0 1 Ptosis 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 human_phenotype_ontology_hp_0000307_human_phenotype_ontology_hp_0005330_medgen_c1844505 Pointed chin Human_Phenotype_Ontology:HP:0000307,Human_Phenotype_Ontology:HP:0005330,MedGen:C1844505 1 1 1.0000 condition_record_support_limited 20 0 1 Pointed_chin 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 mondo_mondo_0012613_medgen_c1970199_omim_611091_orphanet_88616 Intellectual disability, autosomal recessive 5 MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091,Orphanet:88616 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_autosomal_recessive_5 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 mondo_mondo_0018226_medgen_c4552072_orphanet_364063 Infantile epileptic dyskinetic encephalopathy MONDO:MONDO:0018226,MedGen:C4552072,Orphanet:364063 1 1 1.0000 condition_record_support_limited 20 0 1 Infantile_epileptic_dyskinetic_encephalopathy 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 mondo_mondo_0020071_medgen_cn276928 Infantile epilepsy syndrome MONDO:MONDO:0020071,MedGen:CN276928 1 1 1.0000 condition_record_support_limited 20 0 1 Infantile_epilepsy_syndrome 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 human_phenotype_ontology_hp_0000342_human_phenotype_ontology_hp_0000348_medgen_c0239676 High forehead Human_Phenotype_Ontology:HP:0000342,Human_Phenotype_Ontology:HP:0000348,MedGen:C0239676 1 1 1.0000 condition_record_support_limited 20 0 1 High_forehead 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 human_phenotype_ontology_hp_0002449_human_phenotype_ontology_hp_0002523_human_phenotype_ontology_hp_0008947_human_phenotype_ontology_hp_0010572_medgen_c1860834 Floppy infant Human_Phenotype_Ontology:HP:0002449,Human_Phenotype_Ontology:HP:0002523,Human_Phenotype_Ontology:HP:0008947,Human_Phenotype_Ontology:HP:0010572,MedGen:C1860834 1 1 1.0000 condition_record_support_limited 20 0 1 Floppy_infant 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 human_phenotype_ontology_hp_0000494_human_phenotype_ontology_hp_0007714_human_phenotype_ontology_hp_0007908_medgen_c0423110 Downslanted palpebral fissures Human_Phenotype_Ontology:HP:0000494,Human_Phenotype_Ontology:HP:0007714,Human_Phenotype_Ontology:HP:0007908,MedGen:C0423110 1 1 1.0000 condition_record_support_limited 20 0 1 Downslanted_palpebral_fissures 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_disorder 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 human_phenotype_ontology_hp_0001782_medgen_c4025747 Bulbous tips of toes Human_Phenotype_Ontology:HP:0001782,MedGen:C4025747 1 1 1.0000 condition_record_support_limited 20 0 1 Bulbous_tips_of_toes 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 autosomal_dominant_epilepsy Autosomal dominant epilepsy . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_epilepsy 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 human_phenotype_ontology_hp_0000718_human_phenotype_ontology_hp_0006919_medgen_c0001807 Aggressive behavior Human_Phenotype_Ontology:HP:0000718,Human_Phenotype_Ontology:HP:0006919,MedGen:C0001807 1 1 1.0000 condition_record_support_limited 20 0 1 Aggressive_behavior 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Absent speech Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 1.0000 condition_record_support_limited 20 0 1 Absent_speech 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNGAP1 human_phenotype_ontology_hp_0000766_human_phenotype_ontology_hp_0000780_human_phenotype_ontology_hp_0006586_human_phenotype_ontology_hp_0006594_human_phenotype_ontology_hp_0006605_human_phenotype_ontology_hp_0006630_human_phenotype_ontology_hp_0006708_medgen_c1860493 Abnormal sternum morphology Human_Phenotype_Ontology:HP:0000766,Human_Phenotype_Ontology:HP:0000780,Human_Phenotype_Ontology:HP:0006586,Human_Phenotype_Ontology:HP:0006594,Human_Phenotype_Ontology:HP:0006605,Human_Phenotype_Ontology:HP:0006630,Human_Phenotype_Ontology:HP:0006708,MedGen:C1860493 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_sternum_morphology 433 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNE4 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYNE2 human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_palsy 10 low_record_burden_interpretation_limited low_record_burden_gene SYNE1 human_phenotype_ontology_hp_0001709_mondo_mondo_0000468_medgen_c0151517 Third degree atrioventricular block Human_Phenotype_Ontology:HP:0001709,MONDO:MONDO:0000468,MedGen:C0151517 1 1 1.0000 condition_record_support_limited 20 0 0 Third_degree_atrioventricular_block 379 large_gene_or_donor_burden_stress_case donor_burden_stress SYNE1 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_ataxia 379 large_gene_or_donor_burden_stress_case donor_burden_stress SYNE1 mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 Dilated cardiomyopathy 1A MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 1 1 1.0000 condition_record_support_limited 20 0 0 Dilated_cardiomyopathy_1A 379 large_gene_or_donor_burden_stress_case donor_burden_stress SYNE1 mondo_mondo_0016044_medgen_c0158646_orphanet_199306 Cleft lip/palate MONDO:MONDO:0016044,MedGen:C0158646,Orphanet:199306 1 1 1.0000 condition_record_support_limited 20 0 1 Cleft_lip/palate 379 large_gene_or_donor_burden_stress_case donor_burden_stress SYNE1 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 379 large_gene_or_donor_burden_stress_case donor_burden_stress SYNE1 mondo_mondo_0015244_medgen_c5575375_omim_ps213200_orphanet_1172 Autosomal recessive cerebellar ataxia MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200,Orphanet:1172 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_cerebellar_ataxia 379 large_gene_or_donor_burden_stress_case donor_burden_stress SYNE1 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 379 large_gene_or_donor_burden_stress_case donor_burden_stress SYNCRIP mondo_mondo_0800456_medgen_cn376111 SYNCRIP-related neurodevelopmental disorder MONDO:MONDO:0800456,MedGen:CN376111 1 1 1.0000 condition_record_support_limited 20 0 0 SYNCRIP-related_neurodevelopmental_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene SYNCRIP syncrip_associated_neurodevelopmental_disorder SYNCRIP-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SYNCRIP-associated_neurodevelopmental_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene SYN3 human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Visual impairment Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 1.0000 condition_record_support_limited 20 0 1 Visual_impairment 12 low_record_burden_interpretation_limited low_record_burden_gene SYN3 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 12 low_record_burden_interpretation_limited low_record_burden_gene SYN3 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 12 low_record_burden_interpretation_limited low_record_burden_gene SYN3 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 12 low_record_burden_interpretation_limited low_record_burden_gene SYN3 human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Cerebral arteriovenous malformation Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_arteriovenous_malformation 12 low_record_burden_interpretation_limited low_record_burden_gene SYN3 human_phenotype_ontology_hp_0006855_human_phenotype_ontology_hp_0007121_human_phenotype_ontology_hp_0007312_medgen_c0742028 Cerebellar vermis atrophy Human_Phenotype_Ontology:HP:0006855,Human_Phenotype_Ontology:HP:0007121,Human_Phenotype_Ontology:HP:0007312,MedGen:C0742028 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_vermis_atrophy 12 low_record_burden_interpretation_limited low_record_burden_gene SYN1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYN1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYN1 mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SYCP2L condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 3 low_record_burden_interpretation_limited low_record_burden_gene SYCP2 human_phenotype_ontology_hp_0031039_medgen_c4476925 Spermatocyte maturation arrest Human_Phenotype_Ontology:HP:0031039,MedGen:C4476925 1 1 1.0000 condition_record_support_limited 20 0 1 Spermatocyte_maturation_arrest 6 low_record_burden_interpretation_limited low_record_burden_gene SYCP2 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 6 low_record_burden_interpretation_limited low_record_burden_gene SVIL human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 5 low_record_burden_interpretation_limited low_record_burden_gene SVBP condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene SVBP svbp_related_disorder SVBP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SVBP-related_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene SVBP neurodevelopmental_disorder_with_ataxia Neurodevelopmental disorder with ataxia . 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_ataxia 6 low_record_burden_interpretation_limited low_record_burden_gene SV2A condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 1 See_cases 3 low_record_burden_interpretation_limited low_record_burden_gene SUZ12 suz12_related_disorder SUZ12-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SUZ12-related_disorder 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUZ12 human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 1.0000 condition_record_support_limited 20 0 1 Non-immune_hydrops_fetalis 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUZ12 mondo_mondo_0020526_medgen_c5925108_orphanet_99887 Acute megakaryoblastic leukemia in down syndrome MONDO:MONDO:0020526,MedGen:C5925108,Orphanet:99887 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_megakaryoblastic_leukemia_in_down_syndrome 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SURF1 human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Muscle weakness Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 1 1 1.0000 condition_record_support_limited 20 0 1 Muscle_weakness 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SURF1 medgen_c1850599 Leigh syndrome due to mitochondrial complex IV deficiency MedGen:C1850599 1 1 1.0000 condition_record_support_limited 20 0 1 Leigh_syndrome_due_to_mitochondrial_complex_IV_deficiency 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SURF1 human_phenotype_ontology_hp_0001260_human_phenotype_ontology_hp_0002327_medgen_c0013362 Dysarthria Human_Phenotype_Ontology:HP:0001260,Human_Phenotype_Ontology:HP:0002327,MedGen:C0013362 1 1 1.0000 condition_record_support_limited 20 0 1 Dysarthria 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SURF1 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SURF1 mondo_mondo_0014051_medgen_c3554534_omim_615119_orphanet_1561 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 MONDO:MONDO:0014051,MedGen:C3554534,OMIM:615119,Orphanet:1561 1 1 1.0000 condition_record_support_limited 20 0 1 Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_2 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SURF1 human_phenotype_ontology_hp_0003488_human_phenotype_ontology_hp_0007161_human_phenotype_ontology_hp_0007225_human_phenotype_ontology_hp_0007256_human_phenotype_ontology_hp_0007275_human_phenotype_ontology_hp_0007324_human_phenotype_ontology_hp_0007347_medgen_c0234132 Abnormal pyramidal sign Human_Phenotype_Ontology:HP:0003488,Human_Phenotype_Ontology:HP:0007161,Human_Phenotype_Ontology:HP:0007225,Human_Phenotype_Ontology:HP:0007256,Human_Phenotype_Ontology:HP:0007275,Human_Phenotype_Ontology:HP:0007324,Human_Phenotype_Ontology:HP:0007347,MedGen:C0234132 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_pyramidal_sign 173 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUPT3H condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene SUPT3H mondo_mondo_0007340_medgen_c0008928_omim_119600_orphanet_1452 Cleidocranial dysostosis MONDO:MONDO:0007340,MedGen:C0008928,OMIM:119600,Orphanet:1452 1 1 1.0000 condition_record_support_limited 20 0 0 Cleidocranial_dysostosis 2 low_record_burden_interpretation_limited low_record_burden_gene SUMF2 mondo_mondo_0010088_medgen_c0268263_omim_272200_orphanet_585 Multiple sulfatase deficiency MONDO:MONDO:0010088,MedGen:C0268263,OMIM:272200,Orphanet:585 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_sulfatase_deficiency 1 low_record_burden_interpretation_limited low_record_burden_gene SUMF1 mondo_mondo_0011694_medgen_c1847725_omim_606658_orphanet_98769 Spinocerebellar ataxia type 15/16 MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658,Orphanet:98769 1 1 1.0000 condition_record_support_limited 20 0 1 Spinocerebellar_ataxia_type_15/16 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUMF1 sumf1_related_disorder SUMF1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SUMF1-related_disorder 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SULT2B1 mondo_mondo_0009441_medgen_c4551630_omim_242300 Autosomal recessive congenital ichthyosis 1 MONDO:MONDO:0009441,MedGen:C4551630,OMIM:242300 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_congenital_ichthyosis_1 7 low_record_burden_interpretation_limited low_record_burden_gene SUFU sufu_related_ocular_motor_apraxia SUFU-related ocular motor apraxia . 1 1 1.0000 condition_record_support_limited 20 0 0 SUFU-related_ocular_motor_apraxia 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUFU human_phenotype_ontology_hp_0000628_human_phenotype_ontology_hp_0000657_human_phenotype_ontology_hp_0007764_medgen_c3489733 Oculomotor apraxia Human_Phenotype_Ontology:HP:0000628,Human_Phenotype_Ontology:HP:0000657,Human_Phenotype_Ontology:HP:0007764,MedGen:C3489733 1 1 1.0000 condition_record_support_limited 20 0 0 Oculomotor_apraxia 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUFU mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUFU mondo_mondo_0004557_medgen_c0334459 Congenital fibrosarcoma MONDO:MONDO:0004557,MedGen:C0334459 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_fibrosarcoma 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUCLA2 sucla2_related_disorder SUCLA2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SUCLA2-related_disorder 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SUCLA2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP3 stxbp3_related_disorders STXBP3-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 STXBP3-related_disorders 3 low_record_burden_interpretation_limited low_record_burden_gene STXBP2 pet100_related_disorder PET100-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PET100-related_disorder 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP2 human_phenotype_ontology_hp_0004902_medgen_c4025276 Congenital lactic acidosis Human_Phenotype_Ontology:HP:0004902,MedGen:C4025276 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_lactic_acidosis 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 mondo_mondo_0018097_medgen_c0037769_orphanet_3451_orphanet_697160 West syndrome MONDO:MONDO:0018097,MedGen:C0037769,Orphanet:3451,Orphanet:697160 1 1 1.0000 condition_record_support_limited 20 0 1 West_syndrome 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 human_phenotype_ontology_hp_0001295_human_phenotype_ontology_hp_0001309_human_phenotype_ontology_hp_0001337_medgen_c0040822 Tremor Human_Phenotype_Ontology:HP:0001295,Human_Phenotype_Ontology:HP:0001309,Human_Phenotype_Ontology:HP:0001337,MedGen:C0040822 1 1 1.0000 condition_record_support_limited 20 0 1 Tremor 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 1.0000 condition_record_support_limited 20 0 1 Strabismus 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 human_phenotype_ontology_hp_0001257_medgen_c0026838 Spasticity Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 1 1 1.0000 condition_record_support_limited 20 0 1 Spasticity 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 severe_intellectual_deficiency Severe intellectual deficiency . 1 1 1.0000 condition_record_support_limited 20 0 0 Severe_intellectual_deficiency 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 human_phenotype_ontology_hp_0011344_medgen_c1837397 Severe global developmental delay Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_global_developmental_delay 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 stxbp1_associated_neurodevelopmental_disorder STXBP1-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 STXBP1-associated_neurodevelopmental_disorder 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 mondo_mondo_0000509_medgen_cn280315 Non-syndromic intellectual disability MONDO:MONDO:0000509,MedGen:CN280315 1 1 1.0000 condition_record_support_limited 20 0 0 Non-syndromic_intellectual_disability 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 human_phenotype_ontology_hp_0011343_medgen_c2237142 Moderate global developmental delay Human_Phenotype_Ontology:HP:0011343,MedGen:C2237142 1 1 1.0000 condition_record_support_limited 20 0 1 Moderate_global_developmental_delay 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 human_phenotype_ontology_hp_0012469_medgen_c3887898 Infantile spasms Human_Phenotype_Ontology:HP:0012469,MedGen:C3887898 1 1 1.0000 condition_record_support_limited 20 0 1 Infantile_spasms 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 human_phenotype_ontology_hp_0000666_medgen_c0271385 Horizontal nystagmus Human_Phenotype_Ontology:HP:0000666,MedGen:C0271385 1 1 1.0000 condition_record_support_limited 20 0 1 Horizontal_nystagmus 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 human_phenotype_ontology_hp_0002378_medgen_c0239842 Hand tremor Human_Phenotype_Ontology:HP:0002378,MedGen:C0239842 1 1 1.0000 condition_record_support_limited 20 0 1 Hand_tremor 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 early_onset_epileptic_encephalopathy Early onset epileptic encephalopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 Early_onset_epileptic_encephalopathy 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_disorder 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cerebellar_hypoplasia 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 human_phenotype_ontology_hp_0001320_medgen_c1840379 Cerebellar vermis hypoplasia Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_vermis_hypoplasia 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 human_phenotype_ontology_hp_0002320_human_phenotype_ontology_hp_0008936_medgen_c1853743 Axial hypotonia Human_Phenotype_Ontology:HP:0002320,Human_Phenotype_Ontology:HP:0008936,MedGen:C1853743 1 1 1.0000 condition_record_support_limited 20 0 1 Axial_hypotonia 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STXBP1 human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Atypical behavior Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 1 1 1.0000 condition_record_support_limited 20 0 1 Atypical_behavior 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STX7 human_phenotype_ontology_hp_0002269_human_phenotype_ontology_hp_0007317_medgen_c1837249 Abnormality of neuronal migration Human_Phenotype_Ontology:HP:0002269,Human_Phenotype_Ontology:HP:0007317,MedGen:C1837249 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_neuronal_migration 1 low_record_burden_interpretation_limited low_record_burden_gene STX4 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorineural_hearing_loss_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene STX4 mondo_mondo_0958277_medgen_c5935588_omim_620745 Hearing loss, autosomal recessive 123 MONDO:MONDO:0958277,MedGen:C5935588,OMIM:620745 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive_123 1 low_record_burden_interpretation_limited low_record_burden_gene STX3 mondo_mondo_0030335_medgen_c5561942_omim_619445 Diarrhea 12, with microvillus atrophy MONDO:MONDO:0030335,MedGen:C5561942,OMIM:619445 1 1 1.0000 condition_record_support_limited 20 0 1 Diarrhea_12,_with_microvillus_atrophy 12 low_record_burden_interpretation_limited low_record_burden_gene STX1B mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STX1B mondo_mondo_0018214_medgen_c3502809_omim_ps604233_orphanet_36387 Generalized epilepsy with febrile seizures plus MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233,Orphanet:36387 1 1 1.0000 condition_record_support_limited 20 0 0 Generalized_epilepsy_with_febrile_seizures_plus 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STX1B mondo_mondo_0100574_medgen_c0014548 Generalized epilepsy MONDO:MONDO:0100574,MedGen:C0014548 1 1 1.0000 condition_record_support_limited 20 0 0 Generalized_epilepsy 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STX1B human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 0 Epileptic_encephalopathy 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STX1A human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 6 low_record_burden_interpretation_limited low_record_burden_gene STUB1 stub1_related_disorder STUB1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 STUB1-related_disorder 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STS sts_related_disorder STS-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 STS-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene STRC mesh_c537845_medgen_c1842137 nonsyndromic sensorineural hearing loss MeSH:C537845,MedGen:C1842137 1 1 1.0000 condition_record_support_limited 20 0 0 nonsyndromic_sensorineural_hearing_loss 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture STRC mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 1.0000 condition_record_support_limited 20 0 0 Nonsyndromic_genetic_hearing_loss 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture STRC mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture STRA6 mondo_mondo_0800324_medgen_c3540845 Microphthalmia, isolated, with coloboma 8 MONDO:MONDO:0800324,MedGen:C3540845 1 1 1.0000 condition_record_support_limited 20 0 1 Microphthalmia,_isolated,_with_coloboma_8 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STRA6 human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Microphthalmia Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 1 1 1.0000 condition_record_support_limited 20 0 0 Microphthalmia 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STN1 mondo_mondo_0015026_medgen_c4479220_omim_617341 Cerebroretinal microangiopathy with calcifications and cysts 2 MONDO:MONDO:0015026,MedGen:C4479220,OMIM:617341 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebroretinal_microangiopathy_with_calcifications_and_cysts_2 2 low_record_burden_interpretation_limited low_record_burden_gene STN1 mondo_mondo_0005560_medgen_c0006111 Brain disorder MONDO:MONDO:0005560,MedGen:C0006111 1 1 1.0000 condition_record_support_limited 20 0 0 Brain_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene STK4 stk4_related_disorder STK4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 STK4-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene STK4 mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_Immunodeficiency_Diseases 19 low_record_burden_interpretation_limited low_record_burden_gene STK36 mondo_mondo_0054615_medgen_c4539783_omim_617576 Spermatogenic failure 18 MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_18 4 low_record_burden_interpretation_limited low_record_burden_gene STK33 mondo_mondo_0971000_medgen_c5935626_omim_620849 Spermatogenic failure 93 MONDO:MONDO:0971000,MedGen:C5935626,OMIM:620849 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_93 1 low_record_burden_interpretation_limited low_record_burden_gene STK16 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene STK16 mondo_mondo_0979230_medgen_c6012733_omim_621226 Spastic ataxia 11, autosomal dominant MONDO:MONDO:0979230,MedGen:C6012733,OMIM:621226 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_ataxia_11,_autosomal_dominant 1 low_record_burden_interpretation_limited low_record_burden_gene STK16 mondo_mondo_0014531_medgen_c4015512_omim_616208_orphanet_803 Amyotrophic lateral sclerosis type 22 MONDO:MONDO:0014531,MedGen:C4015512,OMIM:616208,Orphanet:803 1 1 1.0000 condition_record_support_limited 20 0 1 Amyotrophic_lateral_sclerosis_type_22 1 low_record_burden_interpretation_limited low_record_burden_gene STK11 human_phenotype_ontology_hp_0001106_medgen_c1844606 Periorbital hyperpigmentation Human_Phenotype_Ontology:HP:0001106,MedGen:C1844606 1 1 1.0000 condition_record_support_limited 20 0 1 Periorbital_hyperpigmentation 395 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control STK11 human_phenotype_ontology_hp_0200008_mondo_mondo_0024292_medgen_c1257915 Intestinal polyposis Human_Phenotype_Ontology:HP:0200008,MONDO:MONDO:0024292,MedGen:C1257915 1 1 1.0000 condition_record_support_limited 20 0 1 Intestinal_polyposis 395 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control STK11 mondo_mondo_0021056_medgen_c2713442_omim_175100 Familial adenomatous polyposis 1 MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_adenomatous_polyposis_1 395 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control STK11 mondo_mondo_0012933_medgen_c2675520_omim_612555_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 2 MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 0 Breast-ovarian_cancer,_familial,_susceptibility_to,_2 395 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control STIM1 mondo_mondo_0012286_medgen_c2931230_omim_609500 Myopathy, autophagic vacuolar, infantile-onset MONDO:MONDO:0012286,MedGen:C2931230,OMIM:609500 1 1 1.0000 condition_record_support_limited 20 0 0 Myopathy,_autophagic_vacuolar,_infantile-onset 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STIL stil_related_disorder STIL-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 STIL-related_disorder 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STIL human_phenotype_ontology_hp_0001932_human_phenotype_ontology_hp_0008264_medgen_c4021547 Neutrophil inclusion bodies Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547 1 1 1.0000 condition_record_support_limited 20 0 0 Neutrophil_inclusion_bodies 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STIL mondo_mondo_0002380_mesh_d009208_medgen_c0027070 Myoepithelial tumor MONDO:MONDO:0002380,MeSH:D009208,MedGen:C0027070 1 1 1.0000 condition_record_support_limited 20 0 0 Myoepithelial_tumor 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STIL human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAT4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene STAT2 mondo_mondo_0030044_medgen_c5394391_omim_618886 Pseudo-TORCH syndrome 3 MONDO:MONDO:0030044,MedGen:C5394391,OMIM:618886 1 1 1.0000 condition_record_support_limited 20 0 0 Pseudo-TORCH_syndrome_3 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAP1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 1 low_record_burden_interpretation_limited low_record_burden_gene STAMBP stambp_related_disorder STAMBP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 STAMBP-related_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAG3 stag3_related_disorder STAG3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 STAG3-related_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAG3 mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAG3 mondo_mondo_0012514_medgen_c1864663_omim_610532_orphanet_85163 Hypomyelination and Congenital Cataract MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532,Orphanet:85163 1 1 1.0000 condition_record_support_limited 20 0 0 Hypomyelination_and_Congenital_Cataract 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAG3 human_phenotype_ontology_hp_0008222_mondo_mondo_0021124_medgen_c0021361 Female infertility Human_Phenotype_Ontology:HP:0008222,MONDO:MONDO:0021124,MedGen:C0021361 1 1 1.0000 condition_record_support_limited 20 0 1 Female_infertility 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAG3 human_phenotype_ontology_hp_0000137_mondo_mondo_0005558_medgen_c4021818 Abnormality of the ovary Human_Phenotype_Ontology:HP:0000137,MONDO:MONDO:0005558,MedGen:C4021818 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_ovary 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAG2 x_linked_stag2_related_disorders X-linked STAG2-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 X-linked_STAG2-related_disorders 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAG2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAG1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAG1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture STAC3 stac3_related_disorder STAC3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 STAC3-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene STAC3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 14 low_record_burden_interpretation_limited low_record_burden_gene STAC3 mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 Congenital myopathy MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_myopathy 14 low_record_burden_interpretation_limited low_record_burden_gene STAC2 mondo_mondo_0957430_medgen_c0036346_orphanet_641496 Childhood-onset schizophrenia MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 1.0000 condition_record_support_limited 20 0 0 Childhood-onset_schizophrenia 1 low_record_burden_interpretation_limited low_record_burden_gene ST7 medgen_c2674422 Intractable seizure MedGen:C2674422 1 1 1.0000 condition_record_support_limited 20 0 1 Intractable_seizure 1 low_record_burden_interpretation_limited low_record_burden_gene ST7 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene ST7 human_phenotype_ontology_hp_0012444_medgen_c4551584 Brain atrophy Human_Phenotype_Ontology:HP:0012444,MedGen:C4551584 1 1 1.0000 condition_record_support_limited 20 0 1 Brain_atrophy 1 low_record_burden_interpretation_limited low_record_burden_gene ST6GALNAC5 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 1 low_record_burden_interpretation_limited low_record_burden_gene ST3GAL5 st3gal5_related_disorder ST3GAL5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ST3GAL5-related_disorder 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ST3GAL5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ST3GAL3 human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ST3GAL3 st3gal3_related_disorder ST3GAL3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ST3GAL3-related_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ST3GAL3 human_phenotype_ontology_hp_0000986_human_phenotype_ontology_hp_0006579_medgen_c1859236 Prolonged neonatal jaundice Human_Phenotype_Ontology:HP:0000986,Human_Phenotype_Ontology:HP:0006579,MedGen:C1859236 1 1 1.0000 condition_record_support_limited 20 0 1 Prolonged_neonatal_jaundice 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ST3GAL3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ST3GAL3 human_phenotype_ontology_hp_0002359_medgen_c0850703 Frequent falls Human_Phenotype_Ontology:HP:0002359,MedGen:C0850703 1 1 1.0000 condition_record_support_limited 20 0 1 Frequent_falls 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ST3GAL3 human_phenotype_ontology_hp_0002355_human_phenotype_ontology_hp_0007101_human_phenotype_ontology_hp_0009030_medgen_c0311394 Difficulty walking Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394 1 1 1.0000 condition_record_support_limited 20 0 1 Difficulty_walking 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ST3GAL3 human_phenotype_ontology_hp_0000718_human_phenotype_ontology_hp_0006919_medgen_c0001807 Aggressive behavior Human_Phenotype_Ontology:HP:0000718,Human_Phenotype_Ontology:HP:0006919,MedGen:C0001807 1 1 1.0000 condition_record_support_limited 20 0 1 Aggressive_behavior 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ST14 human_phenotype_ontology_hp_0000955_human_phenotype_ontology_hp_0007547_human_phenotype_ontology_hp_0008064_mondo_mondo_0019269_medgen_c0020757_orphanet_79354 Ichthyosis Human_Phenotype_Ontology:HP:0000955,Human_Phenotype_Ontology:HP:0007547,Human_Phenotype_Ontology:HP:0008064,MONDO:MONDO:0019269,MedGen:C0020757,Orphanet:79354 1 1 1.0000 condition_record_support_limited 20 0 1 Ichthyosis 15 low_record_burden_interpretation_limited low_record_burden_gene SSX1 human_phenotype_ontology_hp_0012570_mondo_mondo_0010434_medgen_c0039101_omim_300813_orphanet_3273 Synovial sarcoma Human_Phenotype_Ontology:HP:0012570,MONDO:MONDO:0010434,MedGen:C0039101,OMIM:300813,Orphanet:3273 1 1 1.0000 condition_record_support_limited 20 0 0 Synovial_sarcoma 3 low_record_burden_interpretation_limited low_record_burden_gene SSUH2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene SSUH2 mondo_mondo_0019947_medgen_c1832560_omim_606072_orphanet_265 Rippling muscle disease 2 MONDO:MONDO:0019947,MedGen:C1832560,OMIM:606072,Orphanet:265 1 1 1.0000 condition_record_support_limited 20 0 1 Rippling_muscle_disease_2 1 low_record_burden_interpretation_limited low_record_burden_gene SSUH2 mondo_mondo_0012736_medgen_c2678485_omim_611818_orphanet_101016_orphanet_768 Long QT syndrome 9 MONDO:MONDO:0012736,MedGen:C2678485,OMIM:611818,Orphanet:101016,Orphanet:768 1 1 1.0000 condition_record_support_limited 20 0 1 Long_QT_syndrome_9 1 low_record_burden_interpretation_limited low_record_burden_gene SSUH2 mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 1.0000 condition_record_support_limited 20 0 1 Long_QT_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene SSUH2 mondo_mondo_0008647_medgen_c3495498_omim_192600 Hypertrophic cardiomyopathy 1 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrophic_cardiomyopathy_1 1 low_record_burden_interpretation_limited low_record_burden_gene SSUH2 human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Elevated circulating creatine kinase concentration Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 1 1 1.0000 condition_record_support_limited 20 0 1 Elevated_circulating_creatine_kinase_concentration 1 low_record_burden_interpretation_limited low_record_burden_gene SSUH2 mondo_mondo_0013686_medgen_c3280443_omim_614321_orphanet_488650 Distal myopathy, Tateyama type MONDO:MONDO:0013686,MedGen:C3280443,OMIM:614321,Orphanet:488650 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_myopathy,_Tateyama_type 1 low_record_burden_interpretation_limited low_record_burden_gene SSR3 mondo_mondo_0015286_medgen_c0282577_orphanet_137 Congenital disorder of glycosylation MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_disorder_of_glycosylation 1 low_record_burden_interpretation_limited low_record_burden_gene SSBP1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene SSBP1 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene SSBP1 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy 4 low_record_burden_interpretation_limited low_record_burden_gene SRY differences_in_sex_development Differences in sex development . 1 1 1.0000 condition_record_support_limited 20 0 0 Differences_in_sex_development 42 single_exon_hotspot_opportunity local_compact_architecture SRY mondo_mondo_0020040_medgen_c2751824_orphanet_98085 46,XY disorder of sex development MONDO:MONDO:0020040,MedGen:C2751824,Orphanet:98085 1 1 1.0000 condition_record_support_limited 20 0 0 46,XY_disorder_of_sex_development 42 single_exon_hotspot_opportunity local_compact_architecture SRY medgen_c2748897 46,XY TRUE HERMAPHRODITISM MedGen:C2748897 1 1 1.0000 condition_record_support_limited 20 0 1 46,XY_TRUE_HERMAPHRODITISM 42 single_exon_hotspot_opportunity local_compact_architecture SRSF2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene SRSF2 mondo_mondo_0004653_medgen_c1292772_orphanet_98824 Atypical chronic myeloid leukemia, BCR-ABL1 negative MONDO:MONDO:0004653,MedGen:C1292772,Orphanet:98824 1 1 1.0000 condition_record_support_limited 20 0 1 Atypical_chronic_myeloid_leukemia,_BCR-ABL1_negative 3 low_record_burden_interpretation_limited low_record_burden_gene SRSF2 human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Acute myeloid leukemia Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_myeloid_leukemia 3 low_record_burden_interpretation_limited low_record_burden_gene SRSF2 mondo_mondo_0020526_medgen_c5925108_orphanet_99887 Acute megakaryoblastic leukemia in down syndrome MONDO:MONDO:0020526,MedGen:C5925108,Orphanet:99887 1 1 1.0000 condition_record_support_limited 20 0 0 Acute_megakaryoblastic_leukemia_in_down_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene SRRM2 human_phenotype_ontology_hp_0002133_medgen_c0038220 Status epilepticus Human_Phenotype_Ontology:HP:0002133,MedGen:C0038220 1 1 1.0000 condition_record_support_limited 20 0 1 Status_epilepticus 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SRRM2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SRRM2 human_phenotype_ontology_hp_0011172_medgen_c0751057 Complex febrile seizure Human_Phenotype_Ontology:HP:0011172,MedGen:C0751057 1 1 1.0000 condition_record_support_limited 20 0 1 Complex_febrile_seizure 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SRPX2 condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene SRPX2 mondo_mondo_0010388_medgen_c1845070_omim_300643 Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked MONDO:MONDO:0010388,MedGen:C1845070,OMIM:300643 1 1 1.0000 condition_record_support_limited 20 0 0 Rolandic_epilepsy,_intellectual_disability,_and_speech_dyspraxia,_X-linked 2 low_record_burden_interpretation_limited low_record_burden_gene SRPX human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene SRPRA mondo_mondo_0044204_medgen_c4692625_omim_260400 Shwachman-Diamond syndrome 1 MONDO:MONDO:0044204,MedGen:C4692625,OMIM:260400 1 1 1.0000 condition_record_support_limited 20 0 1 Shwachman-Diamond_syndrome_1 1 low_record_burden_interpretation_limited low_record_burden_gene SRPRA mondo_mondo_0018542_medgen_c1853118_omim_ps202700_orphanet_42738 Severe congenital neutropenia MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_congenital_neutropenia 1 low_record_burden_interpretation_limited low_record_burden_gene SRPK3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene SRPK3 mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 Congenital myopathy MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_myopathy 4 low_record_burden_interpretation_limited low_record_burden_gene SRP68 mondo_mondo_0957809_medgen_c5882756_omim_620534 Neutropenia, severe congenital, 10, autosomal recessive MONDO:MONDO:0957809,MedGen:C5882756,OMIM:620534 1 1 1.0000 condition_record_support_limited 20 0 0 Neutropenia,_severe_congenital,_10,_autosomal_recessive 1 low_record_burden_interpretation_limited low_record_burden_gene SRP54 mondo_mondo_0032664_medgen_c4749028_omim_618300 Ciliary dyskinesia, primary, 40 MONDO:MONDO:0032664,MedGen:C4749028,OMIM:618300 1 1 1.0000 condition_record_support_limited 20 0 1 Ciliary_dyskinesia,_primary,_40 7 low_record_burden_interpretation_limited low_record_burden_gene SRP19 mondo_mondo_0044204_medgen_c4692625_omim_260400 Shwachman-Diamond syndrome 1 MONDO:MONDO:0044204,MedGen:C4692625,OMIM:260400 1 1 1.0000 condition_record_support_limited 20 0 1 Shwachman-Diamond_syndrome_1 1 low_record_burden_interpretation_limited low_record_burden_gene SRP19 mondo_mondo_0018542_medgen_c1853118_omim_ps202700_orphanet_42738 Severe congenital neutropenia MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_congenital_neutropenia 1 low_record_burden_interpretation_limited low_record_burden_gene SRI mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 1 low_record_burden_interpretation_limited low_record_burden_gene SRGAP3 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 1 low_record_burden_interpretation_limited low_record_burden_gene SRGAP1 mondo_mondo_0008566_medgen_c4225426_omim_188470 Thyroid cancer, nonmedullary, 2 MONDO:MONDO:0008566,MedGen:C4225426,OMIM:188470 1 1 1.0000 condition_record_support_limited 20 0 0 Thyroid_cancer,_nonmedullary,_2 1 low_record_burden_interpretation_limited low_record_burden_gene SRFBP1 human_phenotype_ontology_hp_0004955_medgen_c1836651 Generalized arterial tortuosity Human_Phenotype_Ontology:HP:0004955,MedGen:C1836651 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_arterial_tortuosity 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SRFBP1 familial_aortopathy Familial aortopathy MedGen:CN078214 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_aortopathy 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SRFBP1 human_phenotype_ontology_hp_0000973_mondo_mondo_0016175_medgen_c0010495_orphanet_209 Cutis laxa Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209 1 1 1.0000 condition_record_support_limited 20 0 1 Cutis_laxa 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SRFBP1 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SRD5A3 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 23 compact_adjacent_exon_block_opportunity local_compact_architecture SRD5A3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 23 compact_adjacent_exon_block_opportunity local_compact_architecture SRD5A3 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 23 compact_adjacent_exon_block_opportunity local_compact_architecture SRD5A3 mondo_mondo_0000455_medgen_c0730290_orphanet_1871 Cone dystrophy MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 1.0000 condition_record_support_limited 20 0 1 Cone_dystrophy 23 compact_adjacent_exon_block_opportunity local_compact_architecture SRD5A3 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 23 compact_adjacent_exon_block_opportunity local_compact_architecture SRD5A3 human_phenotype_ontology_hp_0000587_medgen_c0029131 Abnormal optic nerve morphology Human_Phenotype_Ontology:HP:0000587,MedGen:C0029131 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_optic_nerve_morphology 23 compact_adjacent_exon_block_opportunity local_compact_architecture SRD5A2 human_phenotype_ontology_hp_0000119_human_phenotype_ontology_hp_0008658_human_phenotype_ontology_hp_0008688_human_phenotype_ontology_hp_0008704_human_phenotype_ontology_hp_0008713_mondo_mondo_0019356_medgen_c0042063_orphanet_83001 Urogenital tract malformation Human_Phenotype_Ontology:HP:0000119,Human_Phenotype_Ontology:HP:0008658,Human_Phenotype_Ontology:HP:0008688,Human_Phenotype_Ontology:HP:0008704,Human_Phenotype_Ontology:HP:0008713,MONDO:MONDO:0019356,MedGen:C0042063,Orphanet:83001 1 1 1.0000 condition_record_support_limited 20 0 1 Urogenital_tract_malformation 89 compact_adjacent_exon_block_opportunity local_compact_architecture SRD5A2 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 89 compact_adjacent_exon_block_opportunity local_compact_architecture SRCAP medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_intellectual_disability 111 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SRCAP human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 111 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SRCAP monogenic_short_statue Monogenic short statue . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_short_statue 111 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SRCAP human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Moderate intellectual disability Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 1 1 1.0000 condition_record_support_limited 20 0 0 Moderate_intellectual_disability 111 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SRCAP mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 0 Epilepsy 111 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SRCAP medgen_c0424605 Developmental delay MedGen:C0424605 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_delay 111 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SRC mondo_mondo_0014837_medgen_c4310789_omim_616937_orphanet_480851 Thrombocytopenia 6 MONDO:MONDO:0014837,MedGen:C4310789,OMIM:616937,Orphanet:480851 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombocytopenia_6 2 low_record_burden_interpretation_limited low_record_burden_gene SRC human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombocytopenia 2 low_record_burden_interpretation_limited low_record_burden_gene SRC mondo_mondo_0009692_mesh_d055728_medgen_c0001815_omim_254450_orphanet_824 Primary myelofibrosis MONDO:MONDO:0009692,MeSH:D055728,MedGen:C0001815,OMIM:254450,Orphanet:824 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_myelofibrosis 2 low_record_burden_interpretation_limited low_record_burden_gene SRC human_phenotype_ontology_hp_0000939_human_phenotype_ontology_hp_0002774_mondo_mondo_0005298_medgen_c0029456_omim_166710 Osteoporosis Human_Phenotype_Ontology:HP:0000939,Human_Phenotype_Ontology:HP:0002774,MONDO:MONDO:0005298,MedGen:C0029456,OMIM:166710 1 1 1.0000 condition_record_support_limited 20 0 1 Osteoporosis 2 low_record_burden_interpretation_limited low_record_burden_gene SRC medgen_c4016406 Colon cancer, advanced MedGen:C4016406 1 1 1.0000 condition_record_support_limited 20 0 0 Colon_cancer,_advanced 2 low_record_burden_interpretation_limited low_record_burden_gene SQSTM1 mondo_mondo_0800464_medgen_cn375925 SQSTM1-related multisystem proteinopathy MONDO:MONDO:0800464,MedGen:CN375925 1 1 1.0000 condition_record_support_limited 20 0 1 SQSTM1-related_multisystem_proteinopathy 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SQSTM1 neurodegeneration_with_ataxia Neurodegeneration with ataxia . 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodegeneration_with_ataxia 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SQLE mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 1 low_record_burden_interpretation_limited low_record_burden_gene SPTY2D1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 1 low_record_burden_interpretation_limited low_record_burden_gene SPTSSA mondo_mondo_0957309_medgen_c5830578_omim_620417 Spastic paraplegia 90B, autosomal recessive MONDO:MONDO:0957309,MedGen:C5830578,OMIM:620417 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_paraplegia_90B,_autosomal_recessive 2 low_record_burden_interpretation_limited low_record_burden_gene SPTSSA mondo_mondo_0957308_medgen_c5830574_omim_620416 Spastic paraplegia 90A, autosomal dominant MONDO:MONDO:0957308,MedGen:C5830574,OMIM:620416 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_paraplegia_90A,_autosomal_dominant 2 low_record_burden_interpretation_limited low_record_burden_gene SPTLC3 human_phenotype_ontology_hp_0000763_human_phenotype_ontology_hp_0003410_human_phenotype_ontology_hp_0006815_human_phenotype_ontology_hp_0007043_human_phenotype_ontology_hp_0007142_mondo_mondo_0002321_medgen_c0151313 Sensory neuropathy Human_Phenotype_Ontology:HP:0000763,Human_Phenotype_Ontology:HP:0003410,Human_Phenotype_Ontology:HP:0006815,Human_Phenotype_Ontology:HP:0007043,Human_Phenotype_Ontology:HP:0007142,MONDO:MONDO:0002321,MedGen:C0151313 1 1 1.0000 condition_record_support_limited 20 0 1 Sensory_neuropathy 1 low_record_burden_interpretation_limited low_record_burden_gene SPTLC3 human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Peripheral neuropathy Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 1.0000 condition_record_support_limited 20 0 1 Peripheral_neuropathy 1 low_record_burden_interpretation_limited low_record_burden_gene SPTLC2 medgen_c4016942 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE MedGen:C4016942 1 1 1.0000 condition_record_support_limited 20 0 0 NEUROPATHY,_HEREDITARY_SENSORY_AND_AUTONOMIC,_TYPE_IC,_SEVERE 10 low_record_burden_interpretation_limited low_record_burden_gene SPTLC2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 10 low_record_burden_interpretation_limited low_record_burden_gene SPTLC2 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 10 low_record_burden_interpretation_limited low_record_burden_gene SPTLC2 hereditary_neuropathy_or_pain_disorder Hereditary neuropathy or pain disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_neuropathy_or_pain_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene SPTLC2 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease 10 low_record_burden_interpretation_limited low_record_burden_gene SPTLC1 human_phenotype_ontology_hp_0007055_human_phenotype_ontology_hp_0007141_human_phenotype_ontology_hp_0007237_medgen_c1112256 Sensorimotor neuropathy Human_Phenotype_Ontology:HP:0007055,Human_Phenotype_Ontology:HP:0007141,Human_Phenotype_Ontology:HP:0007237,MedGen:C1112256 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorimotor_neuropathy 14 low_record_burden_interpretation_limited low_record_burden_gene SPTLC1 sptlc1_related_disorder SPTLC1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SPTLC1-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene SPTLC1 mondo_mondo_0030331_medgen_c5561939_omim_619435 Ritscher-Schinzel syndrome 4 MONDO:MONDO:0030331,MedGen:C5561939,OMIM:619435 1 1 1.0000 condition_record_support_limited 20 0 1 Ritscher-Schinzel_syndrome_4 14 low_record_burden_interpretation_limited low_record_burden_gene SPTLC1 human_phenotype_ontology_hp_0003432_human_phenotype_ontology_hp_0003475_human_phenotype_ontology_hp_0003701_human_phenotype_ontology_hp_0007195_human_phenotype_ontology_hp_0008950_human_phenotype_ontology_hp_0008961_human_phenotype_ontology_hp_0008975_human_phenotype_ontology_hp_0009033_human_phenotype_ontology_hp_0009075_medgen_c0221629 Proximal muscle weakness Human_Phenotype_Ontology:HP:0003432,Human_Phenotype_Ontology:HP:0003475,Human_Phenotype_Ontology:HP:0003701,Human_Phenotype_Ontology:HP:0007195,Human_Phenotype_Ontology:HP:0008950,Human_Phenotype_Ontology:HP:0008961,Human_Phenotype_Ontology:HP:0008975,Human_Phenotype_Ontology:HP:0009033,Human_Phenotype_Ontology:HP:0009075,MedGen:C0221629 1 1 1.0000 condition_record_support_limited 20 0 1 Proximal_muscle_weakness 14 low_record_burden_interpretation_limited low_record_burden_gene SPTLC1 human_phenotype_ontology_hp_0003748_human_phenotype_ontology_hp_0008956_human_phenotype_ontology_hp_0008974_medgen_c1836767 Proximal lower limb amyotrophy Human_Phenotype_Ontology:HP:0003748,Human_Phenotype_Ontology:HP:0008956,Human_Phenotype_Ontology:HP:0008974,MedGen:C1836767 1 1 1.0000 condition_record_support_limited 20 0 1 Proximal_lower_limb_amyotrophy 14 low_record_burden_interpretation_limited low_record_burden_gene SPTLC1 human_phenotype_ontology_hp_0003394_human_phenotype_ontology_hp_0009018_medgen_c0037763 Muscle spasm Human_Phenotype_Ontology:HP:0003394,Human_Phenotype_Ontology:HP:0009018,MedGen:C0037763 1 1 1.0000 condition_record_support_limited 20 0 1 Muscle_spasm 14 low_record_burden_interpretation_limited low_record_burden_gene SPTLC1 human_phenotype_ontology_hp_0002527_medgen_c0085639 Falls Human_Phenotype_Ontology:HP:0002527,MedGen:C0085639 1 1 1.0000 condition_record_support_limited 20 0 1 Falls 14 low_record_burden_interpretation_limited low_record_burden_gene SPTLC1 human_phenotype_ontology_hp_0002177_human_phenotype_ontology_hp_0003457_human_phenotype_ontology_hp_0003751_human_phenotype_ontology_hp_0003753_human_phenotype_ontology_hp_0100286_medgen_c0476403 EMG abnormality Human_Phenotype_Ontology:HP:0002177,Human_Phenotype_Ontology:HP:0003457,Human_Phenotype_Ontology:HP:0003751,Human_Phenotype_Ontology:HP:0003753,Human_Phenotype_Ontology:HP:0100286,MedGen:C0476403 1 1 1.0000 condition_record_support_limited 20 0 1 EMG_abnormality 14 low_record_burden_interpretation_limited low_record_burden_gene SPTLC1 human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Amyotrophic lateral sclerosis Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 1 1 1.0000 condition_record_support_limited 20 0 1 Amyotrophic_lateral_sclerosis 14 low_record_burden_interpretation_limited low_record_burden_gene SPTBN4 sptbn4_related_disorder SPTBN4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SPTBN4-related_disorder 33 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTBN2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 56 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTBN2 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 56 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTBN1 sptbn1_related_neurodevelopmental_disease SPTBN1-related neurodevelopmental disease . 1 1 1.0000 condition_record_support_limited 20 0 1 SPTBN1-related_neurodevelopmental_disease 59 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTBN1 sptbn1_related_disorder SPTBN1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SPTBN1-related_disorder 59 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTBN1 mondo_mondo_0000594_medgen_c0524528_orphanet_168778 Pervasive developmental disorder MONDO:MONDO:0000594,MedGen:C0524528,Orphanet:168778 1 1 1.0000 condition_record_support_limited 20 0 1 Pervasive_developmental_disorder 59 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTBN1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 59 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTBN1 mondo_mondo_0014832_medgen_c4310794_omim_616917_orphanet_488635 Intellectual disability, autosomal recessive 53 MONDO:MONDO:0014832,MedGen:C4310794,OMIM:616917,Orphanet:488635 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_autosomal_recessive_53 59 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTB human_phenotype_ontology_hp_0004444_human_phenotype_ontology_hp_0004816_medgen_c0553720 Spherocytosis Human_Phenotype_Ontology:HP:0004444,Human_Phenotype_Ontology:HP:0004816,MedGen:C0553720 1 1 1.0000 condition_record_support_limited 20 0 0 Spherocytosis 557 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTB human_phenotype_ontology_hp_0004805_human_phenotype_ontology_hp_0004839_mondo_mondo_0009948_medgen_c0520739_omim_266140 Pyropoikilocytosis, hereditary Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140 1 1 1.0000 condition_record_support_limited 20 0 1 Pyropoikilocytosis,_hereditary 557 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTB human_phenotype_ontology_hp_0001878_human_phenotype_ontology_hp_0001910_human_phenotype_ontology_hp_0004827_human_phenotype_ontology_hp_0004853_human_phenotype_ontology_hp_0004868_human_phenotype_ontology_hp_0005503_mondo_mondo_0003664_medgen_c0002878 Hemolytic anemia Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878 1 1 1.0000 condition_record_support_limited 20 0 0 Hemolytic_anemia 557 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTB mondo_mondo_0011411_medgen_c1858695_omim_604213_orphanet_314597 Chudley-McCullough syndrome MONDO:MONDO:0011411,MedGen:C1858695,OMIM:604213,Orphanet:314597 1 1 1.0000 condition_record_support_limited 20 0 1 Chudley-McCullough_syndrome 557 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTB human_phenotype_ontology_hp_0001903_human_phenotype_ontology_hp_0001926_human_phenotype_ontology_hp_0003136_human_phenotype_ontology_hp_0005509_mondo_mondo_0002280_medgen_c0002871 Anemia Human_Phenotype_Ontology:HP:0001903,Human_Phenotype_Ontology:HP:0001926,Human_Phenotype_Ontology:HP:0003136,Human_Phenotype_Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871 1 1 1.0000 condition_record_support_limited 20 0 0 Anemia 557 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPTAN1 mondo_mondo_0018614_medgen_c5680057_orphanet_442835 Undetermined early-onset epileptic encephalopathy MONDO:MONDO:0018614,MedGen:C5680057,Orphanet:442835 1 1 1.0000 condition_record_support_limited 20 0 1 Undetermined_early-onset_epileptic_encephalopathy 131 large_gene_or_donor_burden_stress_case donor_burden_stress SPTAN1 mondo_mondo_0010427_medgen_c3275406_omim_300799 Syndromic X-linked intellectual disability Raymond type MONDO:MONDO:0010427,MedGen:C3275406,OMIM:300799 1 1 1.0000 condition_record_support_limited 20 0 0 Syndromic_X-linked_intellectual_disability_Raymond_type 131 large_gene_or_donor_burden_stress_case donor_burden_stress SPTAN1 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia 131 large_gene_or_donor_burden_stress_case donor_burden_stress SPTAN1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 0 Seizure 131 large_gene_or_donor_burden_stress_case donor_burden_stress SPTAN1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 131 large_gene_or_donor_burden_stress_case donor_burden_stress SPTAN1 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 131 large_gene_or_donor_burden_stress_case donor_burden_stress SPTAN1 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia 131 large_gene_or_donor_burden_stress_case donor_burden_stress SPTAN1 mondo_mondo_0005384_mesh_d004828_medgen_c0014547 Focal epilepsy MONDO:MONDO:0005384,MeSH:D004828,MedGen:C0014547 1 1 1.0000 condition_record_support_limited 20 0 1 Focal_epilepsy 131 large_gene_or_donor_burden_stress_case donor_burden_stress SPTAN1 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 1 Epileptic_encephalopathy 131 large_gene_or_donor_burden_stress_case donor_burden_stress SPTAN1 human_phenotype_ontology_hp_0003485_human_phenotype_ontology_hp_0009035_human_phenotype_ontology_hp_0009053_medgen_c1836450 Distal lower limb muscle weakness Human_Phenotype_Ontology:HP:0003485,Human_Phenotype_Ontology:HP:0009035,Human_Phenotype_Ontology:HP:0009053,MedGen:C1836450 1 1 1.0000 condition_record_support_limited 20 0 0 Distal_lower_limb_muscle_weakness 131 large_gene_or_donor_burden_stress_case donor_burden_stress SPTAN1 mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy 131 large_gene_or_donor_burden_stress_case donor_burden_stress SPTAN1 mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cerebellar_hypoplasia 131 large_gene_or_donor_burden_stress_case donor_burden_stress SPTAN1 autosomal_dominant_sptan1_related_disorders Autosomal dominant SPTAN1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_SPTAN1-related_disorders 131 large_gene_or_donor_burden_stress_case donor_burden_stress SPTA1 prenatal_anemia Prenatal anemia . 1 1 1.0000 condition_record_support_limited 20 0 1 Prenatal_anemia 210 large_gene_or_donor_burden_stress_case donor_burden_stress SPTA1 mondo_mondo_0009109_medgen_c0268647_omim_222700_orphanet_470 Lysinuric protein intolerance MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700,Orphanet:470 1 1 1.0000 condition_record_support_limited 20 0 1 Lysinuric_protein_intolerance 210 large_gene_or_donor_burden_stress_case donor_burden_stress SPTA1 mondo_mondo_0008278_medgen_c1832942_omim_175050_orphanet_2929 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MONDO:MONDO:0008278,MedGen:C1832942,OMIM:175050,Orphanet:2929 1 1 1.0000 condition_record_support_limited 20 0 1 Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome 210 large_gene_or_donor_burden_stress_case donor_burden_stress SPTA1 autosomal_recessive_spta1_related_disorders Autosomal recessive SPTA1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_SPTA1-related_disorders 210 large_gene_or_donor_burden_stress_case donor_burden_stress SPTA1 human_phenotype_ontology_hp_0001903_human_phenotype_ontology_hp_0001926_human_phenotype_ontology_hp_0003136_human_phenotype_ontology_hp_0005509_mondo_mondo_0002280_medgen_c0002871 Anemia Human_Phenotype_Ontology:HP:0001903,Human_Phenotype_Ontology:HP:0001926,Human_Phenotype_Ontology:HP:0003136,Human_Phenotype_Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871 1 1 1.0000 condition_record_support_limited 20 0 1 Anemia 210 large_gene_or_donor_burden_stress_case donor_burden_stress SPTA1 human_phenotype_ontology_hp_0001871_human_phenotype_ontology_hp_0003135_medgen_c0850715 Abnormality of blood and blood-forming tissues Human_Phenotype_Ontology:HP:0001871,Human_Phenotype_Ontology:HP:0003135,MedGen:C0850715 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_blood_and_blood-forming_tissues 210 large_gene_or_donor_burden_stress_case donor_burden_stress SPRY4 mondo_mondo_0014102_medgen_c3808971_omim_615266_orphanet_478 Hypogonadotropic hypogonadism 17 with or without anosmia MONDO:MONDO:0014102,MedGen:C3808971,OMIM:615266,Orphanet:478 1 1 1.0000 condition_record_support_limited 20 0 0 Hypogonadotropic_hypogonadism_17_with_or_without_anosmia 1 low_record_burden_interpretation_limited low_record_burden_gene SPRY1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 1 low_record_burden_interpretation_limited low_record_burden_gene SPRTN condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene SPRTN human_phenotype_ontology_hp_0012207_medgen_c4082176 Reduced sperm motility Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_sperm_motility 4 low_record_burden_interpretation_limited low_record_burden_gene SPRTN mondo_mondo_0001913_mesh_d009845_medgen_c0028960 Oligospermia MONDO:MONDO:0001913,MeSH:D009845,MedGen:C0028960 1 1 1.0000 condition_record_support_limited 20 0 1 Oligospermia 4 low_record_burden_interpretation_limited low_record_burden_gene SPRTN human_phenotype_ontology_hp_0012864_medgen_c0403824 Abnormal sperm morphology Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_sperm_morphology 4 low_record_burden_interpretation_limited low_record_burden_gene SPRED1 spred1_related_disorder SPRED1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SPRED1-related_disorder 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPRED1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPRED1 medgen_c5681167_orphanet_399775 Male infertility with spermatogenesis disorder MedGen:C5681167,Orphanet:399775 1 1 1.0000 condition_record_support_limited 20 0 1 Male_infertility_with_spermatogenesis_disorder 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPRED1 medgen_c1135954 Incidental Discovery MedGen:C1135954 1 1 1.0000 condition_record_support_limited 20 0 1 Incidental_Discovery 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPR spr_related_disorder SPR-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SPR-related_disorder 36 compact_adjacent_exon_block_opportunity local_compact_architecture SPR human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 36 compact_adjacent_exon_block_opportunity local_compact_architecture SPR mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 36 compact_adjacent_exon_block_opportunity local_compact_architecture SPP2 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 1 low_record_burden_interpretation_limited low_record_burden_gene SPOUT1 mondo_mondo_0018614_medgen_c5680057_orphanet_442835 Undetermined early-onset epileptic encephalopathy MONDO:MONDO:0018614,MedGen:C5680057,Orphanet:442835 1 1 1.0000 condition_record_support_limited 20 0 1 Undetermined_early-onset_epileptic_encephalopathy 6 low_record_burden_interpretation_limited low_record_burden_gene SPOP spop_related_neurodevelopmental_condition SPOP-related neurodevelopmental condition . 1 1 1.0000 condition_record_support_limited 20 0 1 SPOP-related_neurodevelopmental_condition 12 low_record_burden_interpretation_limited low_record_burden_gene SPOP spop_related_disorder SPOP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SPOP-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene SPOP nabais_sa_de_vries_syndrome Nabais Sa-de Vries syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 Nabais_Sa-de_Vries_syndrome 12 low_record_burden_interpretation_limited low_record_burden_gene SPOP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 12 low_record_burden_interpretation_limited low_record_burden_gene SPO11 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 1.0000 condition_record_support_limited 20 0 0 Non-obstructive_azoospermia 1 low_record_burden_interpretation_limited low_record_burden_gene SPNS2 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 0 Sensorineural_hearing_loss_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene SPNS2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 2 low_record_burden_interpretation_limited low_record_burden_gene SPNS2 mondo_mondo_0032762_medgen_c5193108_omim_618457 Hearing loss, autosomal recessive 115 MONDO:MONDO:0032762,MedGen:C5193108,OMIM:618457 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive_115 2 low_record_burden_interpretation_limited low_record_burden_gene SPINK5 susceptibility_to_nonsyndromic_otitis_media Susceptibility to nonsyndromic otitis media . 1 1 1.0000 condition_record_support_limited 20 0 1 Susceptibility_to_nonsyndromic_otitis_media 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPINK2 mondo_mondo_0054733_medgen_c4748142_omim_618091 Spermatogenic failure 29 MONDO:MONDO:0054733,MedGen:C4748142,OMIM:618091 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_29 1 low_record_burden_interpretation_limited low_record_burden_gene SPINK1 spink1_related_disorder SPINK1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SPINK1-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene SPINK1 human_phenotype_ontology_hp_0000819_human_phenotype_ontology_hp_0004908_human_phenotype_ontology_hp_0008217_human_phenotype_ontology_hp_0008234_human_phenotype_ontology_hp_0008260_mondo_mondo_0005015_medgen_c0011849 Diabetes mellitus Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849 1 1 1.0000 condition_record_support_limited 20 0 1 Diabetes_mellitus 13 low_record_burden_interpretation_limited low_record_burden_gene SPINK1 human_phenotype_ontology_hp_0006280_mondo_mondo_0005003_medgen_c0149521 Chronic pancreatitis Human_Phenotype_Ontology:HP:0006280,MONDO:MONDO:0005003,MedGen:C0149521 1 1 1.0000 condition_record_support_limited 20 0 1 Chronic_pancreatitis 13 low_record_burden_interpretation_limited low_record_burden_gene SPIN4 mondo_mondo_0957919_medgen_c5882664_omim_301114 Lui-Jee-Baron syndrome MONDO:MONDO:0957919,MedGen:C5882664,OMIM:301114 1 1 1.0000 condition_record_support_limited 20 0 0 Lui-Jee-Baron_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene SPG7 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_paraplegia 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG7 human_phenotype_ontology_hp_0002313_human_phenotype_ontology_hp_0007191_medgen_c0037771 Spastic paraparesis Human_Phenotype_Ontology:HP:0002313,Human_Phenotype_Ontology:HP:0007191,MedGen:C0037771 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_paraparesis 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG7 human_phenotype_ontology_hp_0007055_human_phenotype_ontology_hp_0007141_human_phenotype_ontology_hp_0007237_medgen_c1112256 Sensorimotor neuropathy Human_Phenotype_Ontology:HP:0007055,Human_Phenotype_Ontology:HP:0007141,Human_Phenotype_Ontology:HP:0007237,MedGen:C1112256 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorimotor_neuropathy 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG7 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG7 human_phenotype_ontology_hp_0006959_mondo_mondo_0019079_medgen_c4024957_orphanet_70 Proximal spinal muscular atrophy Human_Phenotype_Ontology:HP:0006959,MONDO:MONDO:0019079,MedGen:C4024957,Orphanet:70 1 1 1.0000 condition_record_support_limited 20 0 1 Proximal_spinal_muscular_atrophy 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG7 human_phenotype_ontology_hp_0001271_human_phenotype_ontology_hp_0006941_human_phenotype_ontology_hp_0007287_mondo_mondo_0001824_medgen_c0152025 Polyneuropathy Human_Phenotype_Ontology:HP:0001271,Human_Phenotype_Ontology:HP:0006941,Human_Phenotype_Ontology:HP:0007287,MONDO:MONDO:0001824,MedGen:C0152025 1 1 1.0000 condition_record_support_limited 20 0 1 Polyneuropathy 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG7 human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 1.0000 condition_record_support_limited 20 0 1 Optic_atrophy 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG7 human_phenotype_ontology_hp_0000747_human_phenotype_ontology_hp_0002081_human_phenotype_ontology_hp_0002354_medgen_c0233794 Memory impairment Human_Phenotype_Ontology:HP:0000747,Human_Phenotype_Ontology:HP:0002081,Human_Phenotype_Ontology:HP:0002354,MedGen:C0233794 1 1 1.0000 condition_record_support_limited 20 0 1 Memory_impairment 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG7 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG7 mondo_mondo_0008185_medgen_c0238339_omim_167800_orphanet_676 Hereditary pancreatitis MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_pancreatitis 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG7 human_phenotype_ontology_hp_0002066_human_phenotype_ontology_hp_0002379_medgen_c0751837 Gait ataxia Human_Phenotype_Ontology:HP:0002066,Human_Phenotype_Ontology:HP:0002379,MedGen:C0751837 1 1 1.0000 condition_record_support_limited 20 0 1 Gait_ataxia 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG7 mondo_mondo_0014209_medgen_c3809665_omim_615491_orphanet_352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome MONDO:MONDO:0014209,MedGen:C3809665,OMIM:615491,Orphanet:352654 1 1 1.0000 condition_record_support_limited 20 0 1 Early-onset_progressive_neurodegeneration-blindness-ataxia-spasticity_syndrome 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG7 human_phenotype_ontology_hp_0001260_human_phenotype_ontology_hp_0002327_medgen_c0013362 Dysarthria Human_Phenotype_Ontology:HP:0001260,Human_Phenotype_Ontology:HP:0002327,MedGen:C0013362 1 1 1.0000 condition_record_support_limited 20 0 1 Dysarthria 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG7 mondo_mondo_0018894_medgen_c0393541_orphanet_53739 Distal spinal muscular atrophy MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_spinal_muscular_atrophy 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG7 human_phenotype_ontology_hp_0002120_human_phenotype_ontology_hp_0006823_human_phenotype_ontology_hp_0006835_medgen_c4551583 Cerebral cortical atrophy Human_Phenotype_Ontology:HP:0002120,Human_Phenotype_Ontology:HP:0006823,Human_Phenotype_Ontology:HP:0006835,MedGen:C4551583 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_cortical_atrophy 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPG21 spg21_related_disorder SPG21-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SPG21-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene SPG11 human_phenotype_ontology_hp_0002313_human_phenotype_ontology_hp_0007191_medgen_c0037771 Spastic paraparesis Human_Phenotype_Ontology:HP:0002313,Human_Phenotype_Ontology:HP:0007191,MedGen:C0037771 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_paraparesis 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPG11 hereditary_neuropathy_or_pain_disorder Hereditary neuropathy or pain disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_neuropathy_or_pain_disorder 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPG11 human_phenotype_ontology_hp_0007034_medgen_c4024949 Generalized hyperreflexia Human_Phenotype_Ontology:HP:0007034,MedGen:C4024949 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hyperreflexia 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPG11 human_phenotype_ontology_hp_0001288_human_phenotype_ontology_hp_0006953_medgen_c0575081 Gait disturbance Human_Phenotype_Ontology:HP:0001288,Human_Phenotype_Ontology:HP:0006953,MedGen:C0575081 1 1 1.0000 condition_record_support_limited 20 0 1 Gait_disturbance 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPG11 mondo_mondo_0014233_medgen_c3809824_omim_615530_orphanet_391411 Early-onset Parkinson disease 20 MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530,Orphanet:391411 1 1 1.0000 condition_record_support_limited 20 0 1 Early-onset_Parkinson_disease_20 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPG11 human_phenotype_ontology_hp_0002355_human_phenotype_ontology_hp_0007101_human_phenotype_ontology_hp_0009030_medgen_c0311394 Difficulty walking Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394 1 1 1.0000 condition_record_support_limited 20 0 1 Difficulty_walking 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPG11 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 1.0000 condition_record_support_limited 20 0 0 Charcot-Marie-Tooth_disease 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPG11 mondo_mondo_0011583_medgen_c2751536_omim_605714_orphanet_100006_orphanet_324703_orphanet_324708_orphanet_324713_orphanet_324718_orphanet_324723_orphanet_85458 Cerebral amyloid angiopathy, APP-related MONDO:MONDO:0011583,MedGen:C2751536,OMIM:605714,Orphanet:100006,Orphanet:324703,Orphanet:324708,Orphanet:324713,Orphanet:324718,Orphanet:324723,Orphanet:85458 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_amyloid_angiopathy,_APP-related 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPG11 human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Amyotrophic lateral sclerosis Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 1 1 1.0000 condition_record_support_limited 20 0 1 Amyotrophic_lateral_sclerosis 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPG11 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_morphology 558 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPEN human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 101 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPEN mondo_mondo_0002380_mesh_d009208_medgen_c0027070 Myoepithelial tumor MONDO:MONDO:0002380,MeSH:D009208,MedGen:C0027070 1 1 1.0000 condition_record_support_limited 20 0 0 Myoepithelial_tumor 101 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPEN human_phenotype_ontology_hp_0001298_medgen_c0085584 Encephalopathy Human_Phenotype_Ontology:HP:0001298,MedGen:C0085584 1 1 1.0000 condition_record_support_limited 20 0 1 Encephalopathy 101 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPEN mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 101 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SPECC1L specc1l_related_syndrome SPECC1L-related syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 SPECC1L-related_syndrome 14 low_record_burden_interpretation_limited low_record_burden_gene SPECC1L mondo_mondo_0015824_medgen_c1838348_omim_600251_orphanet_141258_orphanet_1794 Oculomaxillofacial dysostosis MONDO:MONDO:0015824,MedGen:C1838348,OMIM:600251,Orphanet:141258,Orphanet:1794 1 1 1.0000 condition_record_support_limited 20 0 0 Oculomaxillofacial_dysostosis 14 low_record_burden_interpretation_limited low_record_burden_gene SPECC1 mondo_mondo_0002380_mesh_d009208_medgen_c0027070 Myoepithelial tumor MONDO:MONDO:0002380,MeSH:D009208,MedGen:C0027070 1 1 1.0000 condition_record_support_limited 20 0 0 Myoepithelial_tumor 1 low_record_burden_interpretation_limited low_record_burden_gene SPDL1 severe_primary_microcephaly Severe primary microcephaly MedGen:CN228308 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_primary_microcephaly 1 low_record_burden_interpretation_limited low_record_burden_gene SPDL1 human_phenotype_ontology_hp_0003811_human_phenotype_ontology_hp_0003820_human_phenotype_ontology_hp_0003824_medgen_c0410916 Neonatal death Human_Phenotype_Ontology:HP:0003811,Human_Phenotype_Ontology:HP:0003820,Human_Phenotype_Ontology:HP:0003824,MedGen:C0410916 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_death 1 low_record_burden_interpretation_limited low_record_burden_gene SPATA7 mondo_mondo_0009499_medgen_c0023521_omim_245200_orphanet_487 Galactosylceramide beta-galactosidase deficiency MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200,Orphanet:487 1 1 1.0000 condition_record_support_limited 20 0 0 Galactosylceramide_beta-galactosidase_deficiency 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPATA7 medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_retinitis_pigmentosa 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPATA22 mondo_mondo_0975842_medgen_c5975503_omim_621001 Spermatogenic failure 96 MONDO:MONDO:0975842,MedGen:C5975503,OMIM:621001 1 1 1.0000 condition_record_support_limited 20 0 1 Spermatogenic_failure_96 186 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SPATA22 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 186 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SPATA22 human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 186 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SPAST human_phenotype_ontology_hp_0100033_mondo_mondo_0002420_medgen_c2169806 Tics Human_Phenotype_Ontology:HP:0100033,MONDO:MONDO:0002420,MedGen:C2169806 1 1 1.0000 condition_record_support_limited 20 0 1 Tics 615 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPAST human_phenotype_ontology_hp_0001264_medgen_c0023882 Spastic diplegia Human_Phenotype_Ontology:HP:0001264,MedGen:C0023882 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_diplegia 615 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPAST human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 615 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPAST human_phenotype_ontology_hp_0008081_medgen_c1578482 Pes valgus Human_Phenotype_Ontology:HP:0008081,MedGen:C1578482 1 1 1.0000 condition_record_support_limited 20 0 1 Pes_valgus 615 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPAST mondo_mondo_0010733_medgen_c0751604_omim_312920_orphanet_99015 Hereditary spastic paraplegia 2 MONDO:MONDO:0010733,MedGen:C0751604,OMIM:312920,Orphanet:99015 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia_2 615 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPAST human_phenotype_ontology_hp_0001371_human_phenotype_ontology_hp_0001372_human_phenotype_ontology_hp_0001381_human_phenotype_ontology_hp_0005053_human_phenotype_ontology_hp_0005189_human_phenotype_ontology_hp_0005660_medgen_c0333068 Flexion contracture Human_Phenotype_Ontology:HP:0001371,Human_Phenotype_Ontology:HP:0001372,Human_Phenotype_Ontology:HP:0001381,Human_Phenotype_Ontology:HP:0005053,Human_Phenotype_Ontology:HP:0005189,Human_Phenotype_Ontology:HP:0005660,MedGen:C0333068 1 1 1.0000 condition_record_support_limited 20 0 1 Flexion_contracture 615 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPAST human_phenotype_ontology_hp_0012378_medgen_c0015672 Fatigue Human_Phenotype_Ontology:HP:0012378,MedGen:C0015672 1 1 1.0000 condition_record_support_limited 20 0 1 Fatigue 615 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPAST human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_palsy 615 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPAST human_phenotype_ontology_hp_0012447_medgen_c1857704 Abnormal myelination Human_Phenotype_Ontology:HP:0012447,MedGen:C1857704 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_myelination 615 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPAST human_phenotype_ontology_hp_0011442_medgen_c4023354 Abnormal central motor function Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_central_motor_function 615 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPART human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 1.0000 condition_record_support_limited 20 0 1 Strabismus 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPART human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPART mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPART human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPART human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPART human_phenotype_ontology_hp_0001260_human_phenotype_ontology_hp_0002327_medgen_c0013362 Dysarthria Human_Phenotype_Ontology:HP:0001260,Human_Phenotype_Ontology:HP:0002327,MedGen:C0013362 1 1 1.0000 condition_record_support_limited 20 0 1 Dysarthria 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPART mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPARCL1 mondo_mondo_0020213_medgen_c0038457_orphanet_98626 Stromal corneal dystrophy MONDO:MONDO:0020213,MedGen:C0038457,Orphanet:98626 1 1 1.0000 condition_record_support_limited 20 0 0 Stromal_corneal_dystrophy 1 low_record_burden_interpretation_limited low_record_burden_gene SPARC mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 4 low_record_burden_interpretation_limited low_record_burden_gene SPAG17 mondo_mondo_0030307_medgen_c5543580_omim_619380 Spermatogenic failure 55 MONDO:MONDO:0030307,MedGen:C5543580,OMIM:619380 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_55 2 low_record_burden_interpretation_limited low_record_burden_gene SPAG17 mondo_mondo_0007972_medgen_c0025281_omim_156000 Meniere disease MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000 1 1 1.0000 condition_record_support_limited 20 0 1 Meniere_disease 2 low_record_burden_interpretation_limited low_record_burden_gene SPAG17 mondo_mondo_0013323_medgen_c3150874_omim_613610_orphanet_1515 Cranioectodermal dysplasia 2 MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515 1 1 1.0000 condition_record_support_limited 20 0 1 Cranioectodermal_dysplasia_2 2 low_record_burden_interpretation_limited low_record_burden_gene SPAG1 mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 Kartagener syndrome MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 1 Kartagener_syndrome 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SPACA1 mondo_mondo_0957584_medgen_c5882685_omim_620490 Spermatogenic failure 85 MONDO:MONDO:0957584,MedGen:C5882685,OMIM:620490 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_85 1 low_record_burden_interpretation_limited low_record_burden_gene SP9 sp9_associated_disorder SP9-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SP9-associated_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene SP9 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene SP9 human_phenotype_ontology_hp_0011097_medgen_c1527366 Epileptic spasm Human_Phenotype_Ontology:HP:0011097,MedGen:C1527366 1 1 1.0000 condition_record_support_limited 20 0 1 Epileptic_spasm 5 low_record_burden_interpretation_limited low_record_burden_gene SP9 human_phenotype_ontology_hp_0032660_medgen_c0311335 Convulsive status epilepticus Human_Phenotype_Ontology:HP:0032660,MedGen:C0311335 1 1 1.0000 condition_record_support_limited 20 0 1 Convulsive_status_epilepticus 5 low_record_burden_interpretation_limited low_record_burden_gene SP9 human_phenotype_ontology_hp_0002339_medgen_c4025711 Abnormal caudate nucleus morphology Human_Phenotype_Ontology:HP:0002339,MedGen:C4025711 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_caudate_nucleus_morphology 5 low_record_burden_interpretation_limited low_record_burden_gene SP7 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene SP6 human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Amelogenesis imperfecta Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 1 1 1.0000 condition_record_support_limited 20 0 1 Amelogenesis_imperfecta 2 low_record_burden_interpretation_limited low_record_burden_gene SOX9 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 134 compact_adjacent_exon_block_opportunity local_compact_architecture SOX9 mondo_mondo_0019698_medgen_c0432238_orphanet_93439 Bent bone dysplasia MONDO:MONDO:0019698,MedGen:C0432238,Orphanet:93439 1 1 1.0000 condition_record_support_limited 20 0 0 Bent_bone_dysplasia 134 compact_adjacent_exon_block_opportunity local_compact_architecture SOX6 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX6 human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 1.0000 condition_record_support_limited 20 0 1 Craniosynostosis_syndrome 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX5 human_phenotype_ontology_hp_0002944_human_phenotype_ontology_hp_0004567_human_phenotype_ontology_hp_0004585_medgen_c0749379 Thoracolumbar scoliosis Human_Phenotype_Ontology:HP:0002944,Human_Phenotype_Ontology:HP:0004567,Human_Phenotype_Ontology:HP:0004585,MedGen:C0749379 1 1 1.0000 condition_record_support_limited 20 0 1 Thoracolumbar_scoliosis 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX5 human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 1.0000 condition_record_support_limited 20 0 1 Strabismus 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX5 human_phenotype_ontology_hp_0011344_medgen_c1837397 Severe global developmental delay Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_global_developmental_delay 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX5 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 1 Epileptic_encephalopathy 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX5 cerebral_visual_impairment_and_intellectual_disability Cerebral visual impairment and intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_visual_impairment_and_intellectual_disability 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX5 human_phenotype_ontology_hp_0011398_medgen_c1842364 Central hypotonia Human_Phenotype_Ontology:HP:0011398,MedGen:C1842364 1 1 1.0000 condition_record_support_limited 20 0 1 Central_hypotonia 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX5 human_phenotype_ontology_hp_0008385_human_phenotype_ontology_hp_0008386_medgen_c1859077 Aplasia/Hypoplasia of the nails Human_Phenotype_Ontology:HP:0008385,Human_Phenotype_Ontology:HP:0008386,MedGen:C1859077 1 1 1.0000 condition_record_support_limited 20 0 1 Aplasia/Hypoplasia_of_the_nails 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX4 human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Mild intellectual disability Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 1 1 1.0000 condition_record_support_limited 20 0 1 Mild_intellectual_disability 25 single_exon_hotspot_opportunity local_compact_architecture SOX30 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility 1 low_record_burden_interpretation_limited low_record_burden_gene SOX3 mondo_mondo_0019032_medgen_c1848068_orphanet_67045 X-linked intellectual disability with isolated growth hormone deficiency MONDO:MONDO:0019032,MedGen:C1848068,Orphanet:67045 1 1 1.0000 condition_record_support_limited 20 0 0 X-linked_intellectual_disability_with_isolated_growth_hormone_deficiency 3 low_record_burden_interpretation_limited low_record_burden_gene SOX3 mondo_mondo_0010712_medgen_c0342376_omim_312000 Panhypopituitarism, X-linked MONDO:MONDO:0010712,MedGen:C0342376,OMIM:312000 1 1 1.0000 condition_record_support_limited 20 0 0 Panhypopituitarism,_X-linked 3 low_record_burden_interpretation_limited low_record_burden_gene SOX3 mondo_mondo_0010252_medgen_c2678223_omim_300123 Intellectual disability, X-linked, with panhypopituitarism MONDO:MONDO:0010252,MedGen:C2678223,OMIM:300123 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_X-linked,_with_panhypopituitarism 3 low_record_burden_interpretation_limited low_record_burden_gene SOX2 human_phenotype_ontology_hp_0100842_mondo_mondo_0008428_medgen_c0338503_omim_182230_orphanet_3157 Septo-optic dysplasia sequence Human_Phenotype_Ontology:HP:0100842,MONDO:MONDO:0008428,MedGen:C0338503,OMIM:182230,Orphanet:3157 1 1 1.0000 condition_record_support_limited 20 0 1 Septo-optic_dysplasia_sequence 102 single_exon_hotspot_opportunity local_compact_architecture SOX2 human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Microphthalmia Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 1 1 1.0000 condition_record_support_limited 20 0 0 Microphthalmia 102 single_exon_hotspot_opportunity local_compact_architecture SOX2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 102 single_exon_hotspot_opportunity local_compact_architecture SOX2 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_disorder 102 single_exon_hotspot_opportunity local_compact_architecture SOX2 human_phenotype_ontology_hp_0000567_human_phenotype_ontology_hp_0000611_human_phenotype_ontology_hp_0007718_human_phenotype_ontology_hp_0007784_medgen_c0240896 Chorioretinal coloboma Human_Phenotype_Ontology:HP:0000567,Human_Phenotype_Ontology:HP:0000611,Human_Phenotype_Ontology:HP:0007718,Human_Phenotype_Ontology:HP:0007784,MedGen:C0240896 1 1 1.0000 condition_record_support_limited 20 0 0 Chorioretinal_coloboma 102 single_exon_hotspot_opportunity local_compact_architecture SOX17 mondo_mondo_0013356_medgen_c3150927_omim_613674_orphanet_289365 Vesicoureteral reflux 3 MONDO:MONDO:0013356,MedGen:C3150927,OMIM:613674,Orphanet:289365 1 1 1.0000 condition_record_support_limited 20 0 0 Vesicoureteral_reflux_3 7 low_record_burden_interpretation_limited low_record_burden_gene SOX17 sox17_related_disorders Sox17- related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Sox17-_related_disorders 7 low_record_burden_interpretation_limited low_record_burden_gene SOX17 mondo_mondo_0979237_medgen_c6012740_omim_621248 Pulmonary hypertension, primary, 7 MONDO:MONDO:0979237,MedGen:C6012740,OMIM:621248 1 1 1.0000 condition_record_support_limited 20 0 0 Pulmonary_hypertension,_primary,_7 7 low_record_burden_interpretation_limited low_record_burden_gene SOX17 human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Pulmonary arterial hypertension Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 1 1 1.0000 condition_record_support_limited 20 0 0 Pulmonary_arterial_hypertension 7 low_record_burden_interpretation_limited low_record_burden_gene SOX11 human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 1.0000 condition_record_support_limited 20 0 0 Craniosynostosis_syndrome 84 single_exon_hotspot_opportunity local_compact_architecture SOX10 mondo_mondo_0018094_medgen_c3266898_omim_ps193500_orphanet_3440 Waardenburg syndrome MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500,Orphanet:3440 1 1 1.0000 condition_record_support_limited 20 0 0 Waardenburg_syndrome 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX10 human_phenotype_ontology_hp_0000044_human_phenotype_ontology_hp_0003335_human_phenotype_ontology_hp_0008224_mondo_mondo_0018555_medgen_c0271623_omim_ps147950_orphanet_432 Hypogonadotropic hypogonadism Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432 1 1 1.0000 condition_record_support_limited 20 0 1 Hypogonadotropic_hypogonadism 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX10 mondo_mondo_0007723_medgen_c3888239_omim_142623_orphanet_388 Hirschsprung disease, susceptibility to, 1 MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388 1 1 1.0000 condition_record_support_limited 20 0 0 Hirschsprung_disease,_susceptibility_to,_1 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOX10 human_phenotype_ontology_hp_0002029_human_phenotype_ontology_hp_0002030_human_phenotype_ontology_hp_0002251_human_phenotype_ontology_hp_0002606_human_phenotype_ontology_hp_0004391_mondo_mondo_0018309_mesh_d006627_medgen_c0019569_omim_ps142623_orphanet_388 Aganglionic megacolon Human_Phenotype_Ontology:HP:0002029,Human_Phenotype_Ontology:HP:0002030,Human_Phenotype_Ontology:HP:0002251,Human_Phenotype_Ontology:HP:0002606,Human_Phenotype_Ontology:HP:0004391,MONDO:MONDO:0018309,MeSH:D006627,MedGen:C0019569,OMIM:PS142623,Orphanet:388 1 1 1.0000 condition_record_support_limited 20 0 0 Aganglionic_megacolon 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOST condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene SOST sost_related_disorder SOST-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SOST-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene SOS2 sos2_related_disorder SOS2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SOS2-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene SOS2 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 Noonan syndrome 1 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 1 1 1.0000 condition_record_support_limited 20 0 1 Noonan_syndrome_1 12 low_record_burden_interpretation_limited low_record_burden_gene SOS2 medgen_c5680033_orphanet_399764 Male infertility due to gonadal dysgenesis or sperm disorder MedGen:C5680033,Orphanet:399764 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_due_to_gonadal_dysgenesis_or_sperm_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene SOS1 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOS1 human_phenotype_ontology_hp_0001642_mondo_mondo_0009938_medgen_c1956257_omim_265500_orphanet_3189 Pulmonic stenosis Human_Phenotype_Ontology:HP:0001642,MONDO:MONDO:0009938,MedGen:C1956257,OMIM:265500,Orphanet:3189 1 1 1.0000 condition_record_support_limited 20 0 1 Pulmonic_stenosis 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOS1 human_phenotype_ontology_hp_0000508_mondo_mondo_0000728_medgen_c0005745 Ptosis Human_Phenotype_Ontology:HP:0000508,MONDO:MONDO:0000728,MedGen:C0005745 1 1 1.0000 condition_record_support_limited 20 0 1 Ptosis 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOS1 human_phenotype_ontology_hp_0001319_human_phenotype_ontology_hp_0008976_medgen_c2267233 Neonatal hypotonia Human_Phenotype_Ontology:HP:0001319,Human_Phenotype_Ontology:HP:0008976,MedGen:C2267233 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_hypotonia 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOS1 monogenic_short_statue Monogenic short statue . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_short_statue 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOS1 male_subfertility Male subfertility . 1 1 1.0000 condition_record_support_limited 20 0 1 Male_subfertility 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOS1 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOS1 human_phenotype_ontology_hp_0010878_medgen_c0948242_omim_257350_orphanet_79486 Fetal cystic hygroma Human_Phenotype_Ontology:HP:0010878,MedGen:C0948242,OMIM:257350,Orphanet:79486 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_cystic_hygroma 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOS1 fetal_anomalies_with_a_likely_genetic_cause Fetal anomalies with a likely genetic cause . 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_anomalies_with_a_likely_genetic_cause 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOS1 human_phenotype_ontology_hp_0000766_human_phenotype_ontology_hp_0000780_human_phenotype_ontology_hp_0006586_human_phenotype_ontology_hp_0006594_human_phenotype_ontology_hp_0006605_human_phenotype_ontology_hp_0006630_human_phenotype_ontology_hp_0006708_medgen_c1860493 Abnormal sternum morphology Human_Phenotype_Ontology:HP:0000766,Human_Phenotype_Ontology:HP:0000780,Human_Phenotype_Ontology:HP:0006586,Human_Phenotype_Ontology:HP:0006594,Human_Phenotype_Ontology:HP:0006605,Human_Phenotype_Ontology:HP:0006630,Human_Phenotype_Ontology:HP:0006708,MedGen:C1860493 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_sternum_morphology 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOS1 human_phenotype_ontology_hp_0001646_medgen_c3164445 Abnormal aortic valve morphology Human_Phenotype_Ontology:HP:0001646,MedGen:C3164445 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_aortic_valve_morphology 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOS1 mondo_mondo_0016674_medgen_c4510744_orphanet_251510 46,XY partial gonadal dysgenesis MONDO:MONDO:0016674,MedGen:C4510744,Orphanet:251510 1 1 1.0000 condition_record_support_limited 20 0 0 46,XY_partial_gonadal_dysgenesis 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SORL1 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 26 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SORL1 mondo_mondo_0015150_medgen_c0393556_orphanet_102013 Complex hereditary spastic paraplegia MONDO:MONDO:0015150,MedGen:C0393556,Orphanet:102013 1 1 1.0000 condition_record_support_limited 20 0 0 Complex_hereditary_spastic_paraplegia 26 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SORD mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 Neuromuscular disease MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 1 1 1.0000 condition_record_support_limited 20 0 1 Neuromuscular_disease 11 low_record_burden_interpretation_limited low_record_burden_gene SORD medgen_c0242992 Idiopathic environmental intolerance MedGen:C0242992 1 1 1.0000 condition_record_support_limited 20 0 1 Idiopathic_environmental_intolerance 11 low_record_burden_interpretation_limited low_record_burden_gene SORCS1 mondo_mondo_0011561_medgen_c1854187_omim_605526_orphanet_1020 Alzheimer disease 6 MONDO:MONDO:0011561,MedGen:C1854187,OMIM:605526,Orphanet:1020 1 1 1.0000 condition_record_support_limited 20 0 0 Alzheimer_disease_6 1 low_record_burden_interpretation_limited low_record_burden_gene SON human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 148 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SON mondo_mondo_0010043_medgen_c2931276_omim_270685_orphanet_100998 Hereditary spastic paraplegia 17 MONDO:MONDO:0010043,MedGen:C2931276,OMIM:270685,Orphanet:100998 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia_17 148 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SOHLH1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene SOHLH1 medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 1 1 1.0000 condition_record_support_limited 20 0 0 Genetic_non-acquired_premature_ovarian_failure 5 low_record_burden_interpretation_limited low_record_burden_gene SOD1 human_phenotype_ontology_hp_0002534_human_phenotype_ontology_hp_0003690_medgen_c0587246 Limb muscle weakness Human_Phenotype_Ontology:HP:0002534,Human_Phenotype_Ontology:HP:0003690,MedGen:C0587246 1 1 1.0000 condition_record_support_limited 20 0 1 Limb_muscle_weakness 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOD1 mondo_mondo_0012790_medgen_c2677565_omim_612069_orphanet_275872_orphanet_803 Amyotrophic lateral sclerosis type 10 MONDO:MONDO:0012790,MedGen:C2677565,OMIM:612069,Orphanet:275872,Orphanet:803 1 1 1.0000 condition_record_support_limited 20 0 1 Amyotrophic_lateral_sclerosis_type_10 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOD1 medgen_c5686324 Amyotrophic lateral sclerosis 1, autosomal recessive MedGen:C5686324 1 1 1.0000 condition_record_support_limited 20 0 1 Amyotrophic_lateral_sclerosis_1,_autosomal_recessive 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOD1 human_phenotype_ontology_hp_0011442_medgen_c4023354 Abnormal central motor function Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_central_motor_function 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SOCS1 mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 Malignant lymphoma, large B-cell, diffuse MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 1 1 1.0000 condition_record_support_limited 20 0 0 Malignant_lymphoma,_large_B-cell,_diffuse 13 low_record_burden_interpretation_limited low_record_burden_gene SOCS1 mondo_mondo_0008558_medgen_c0398650_omim_188030_orphanet_3002 Autoimmune thrombocytopenic purpura MONDO:MONDO:0008558,MedGen:C0398650,OMIM:188030,Orphanet:3002 1 1 1.0000 condition_record_support_limited 20 0 1 Autoimmune_thrombocytopenic_purpura 13 low_record_burden_interpretation_limited low_record_burden_gene SNX14 human_phenotype_ontology_hp_0007263_mesh_d020754_medgen_c0087012 Spinocerebellar atrophy Human_Phenotype_Ontology:HP:0007263,MeSH:D020754,MedGen:C0087012 1 1 1.0000 condition_record_support_limited 20 0 1 Spinocerebellar_atrophy 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNX14 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 0 Seizure 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNX14 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNX14 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNX14 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNX14 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNX10 human_phenotype_ontology_hp_0011002_mondo_mondo_0017198_medgen_c0029454_orphanet_2781 Osteopetrosis Human_Phenotype_Ontology:HP:0011002,MONDO:MONDO:0017198,MedGen:C0029454,Orphanet:2781 1 1 1.0000 condition_record_support_limited 20 0 0 Osteopetrosis 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNW1 snw1_associated_neurodevelopmental_disorder SNW1-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SNW1-associated_neurodevelopmental_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene SNURF mondo_mondo_0008300_medgen_c0032897_omim_176270_orphanet_739 Prader-Willi syndrome MONDO:MONDO:0008300,MedGen:C0032897,OMIM:176270,Orphanet:739 1 1 1.0000 condition_record_support_limited 20 0 0 Prader-Willi_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene SNUPN mondo_mondo_0971171_medgen_c5935611_omim_620793 Muscular dystrophy, limb-girdle, autosomal recessive 29 MONDO:MONDO:0971171,MedGen:C5935611,OMIM:620793 1 1 1.0000 condition_record_support_limited 20 0 1 Muscular_dystrophy,_limb-girdle,_autosomal_recessive_29 2 low_record_burden_interpretation_limited low_record_burden_gene SNRPN mondo_mondo_0008300_medgen_c0032897_omim_176270_orphanet_739 Prader-Willi syndrome MONDO:MONDO:0008300,MedGen:C0032897,OMIM:176270,Orphanet:739 1 1 1.0000 condition_record_support_limited 20 0 0 Prader-Willi_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene SNRPE mondo_mondo_0100316_medgen_c4551647_omim_192500_orphanet_101016_orphanet_768 Long QT syndrome 1 MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768 1 1 1.0000 condition_record_support_limited 20 0 0 Long_QT_syndrome_1 4 low_record_burden_interpretation_limited low_record_burden_gene SNRPB snrpb_related_disorder SNRPB-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SNRPB-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene SNRPB human_phenotype_ontology_hp_0000201_mondo_mondo_0009869_medgen_c0031900_omim_261800_orphanet_718 Isolated Pierre-Robin syndrome Human_Phenotype_Ontology:HP:0000201,MONDO:MONDO:0009869,MedGen:C0031900,OMIM:261800,Orphanet:718 1 1 1.0000 condition_record_support_limited 20 0 1 Isolated_Pierre-Robin_syndrome 9 low_record_burden_interpretation_limited low_record_burden_gene SNRPB human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 9 low_record_burden_interpretation_limited low_record_burden_gene SNRNP200 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene SNORD118 mondo_mondo_0033045_medgen_c4539729_omim_617563 Orofaciodigital syndrome 16 MONDO:MONDO:0033045,MedGen:C4539729,OMIM:617563 1 1 1.0000 condition_record_support_limited 20 0 1 Orofaciodigital_syndrome_16 28 single_exon_hotspot_opportunity local_compact_architecture SNORD118 mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 Meckel-Gruber syndrome MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 1 1 1.0000 condition_record_support_limited 20 0 1 Meckel-Gruber_syndrome 28 single_exon_hotspot_opportunity local_compact_architecture SNIP1 mondo_mondo_0013787_medgen_c3281055_omim_614501 Psychomotor retardation, epilepsy, and craniofacial dysmorphism MONDO:MONDO:0013787,MedGen:C3281055,OMIM:614501 1 1 1.0000 condition_record_support_limited 20 0 0 Psychomotor_retardation,_epilepsy,_and_craniofacial_dysmorphism 1 low_record_burden_interpretation_limited low_record_burden_gene SNCB mondo_mondo_0007488_medgen_c0752347_omim_127750 Lewy body dementia MONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750 1 1 1.0000 condition_record_support_limited 20 0 0 Lewy_body_dementia 1 low_record_burden_interpretation_limited low_record_burden_gene SNCA condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene SNCA mondo_mondo_0011562_medgen_c1854182_omim_605543_orphanet_411602 Autosomal dominant Parkinson disease 4 MONDO:MONDO:0011562,MedGen:C1854182,OMIM:605543,Orphanet:411602 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_Parkinson_disease_4 5 low_record_burden_interpretation_limited low_record_burden_gene SNAPIN human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_morphology 5 low_record_burden_interpretation_limited low_record_burden_gene SNAPC4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene SNAP29 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 22 compact_adjacent_exon_block_opportunity local_compact_architecture SNAP25 mesh_d009123_medgen_c0751330 Unilateral Hypotonia MeSH:D009123,MedGen:C0751330 1 1 1.0000 condition_record_support_limited 20 0 1 Unilateral_Hypotonia 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNAP25 human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNAP25 snap25_related_early_onset_developmental_and_epileptic_encephalopathy SNAP25-related early-onset developmental and epileptic encephalopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 SNAP25-related_early-onset_developmental_and_epileptic_encephalopathy 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNAP25 snap25_related_disorder SNAP25-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SNAP25-related_disorder 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNAP25 snap25_related_developmental_delays_and_epileptic_encephalopathies SNAP25-related developmental delays and epileptic encephalopathies . 1 1 1.0000 condition_record_support_limited 20 0 1 SNAP25-related_developmental_delays_and_epileptic_encephalopathies 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNAP25 snap25_related_neurodevelopmental_disorder SNAP25 related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SNAP25_related_neurodevelopmental_disorder 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNAP25 mondo_mondo_0700466_medgen_c0751884_orphanet_98914 Presynaptic congenital myasthenic syndrome MONDO:MONDO:0700466,MedGen:C0751884,Orphanet:98914 1 1 1.0000 condition_record_support_limited 20 0 0 Presynaptic_congenital_myasthenic_syndrome 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNAP25 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNAP25 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNAP25 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNAP25 mondo_mondo_0005384_mesh_d004828_medgen_c0014547 Focal epilepsy MONDO:MONDO:0005384,MeSH:D004828,MedGen:C0014547 1 1 1.0000 condition_record_support_limited 20 0 1 Focal_epilepsy 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNAP25 mondo_mondo_0005754_mesh_d004830_medgen_c0014549_orphanet_698005 Epilepsy with generalized tonic-clonic seizures MONDO:MONDO:0005754,MeSH:D004830,MedGen:C0014549,Orphanet:698005 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy_with_generalized_tonic-clonic_seizures 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SNAP25 mondo_mondo_0010396_medgen_c4750718_omim_300672_orphanet_1934_orphanet_3451_orphanet_505652 Developmental and epileptic encephalopathy, 2 MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:1934,Orphanet:3451,Orphanet:505652 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_2 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMS mondo_mondo_0008434_medgen_c0795864_omim_182290_orphanet_819 Smith-Magenis syndrome MONDO:MONDO:0008434,MedGen:C0795864,OMIM:182290,Orphanet:819 1 1 1.0000 condition_record_support_limited 20 0 0 Smith-Magenis_syndrome 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMS human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMPX mondo_mondo_0020768_medgen_cn043651_omim_ps304500 X-linked deafness MONDO:MONDO:0020768,MedGen:CN043651,OMIM:PS304500 1 1 1.0000 condition_record_support_limited 20 0 0 X-linked_deafness 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMPX smpx_related_disorder SMPX-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SMPX-related_disorder 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMPX human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 0 Hearing_impairment 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMPD4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMPD1 autosomal_recessive_smpd1_related_disorders autosomal recessive SMPD1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 autosomal_recessive_SMPD1-related_disorders 386 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMPD1 mondo_mondo_0002561_medgen_c0085078_orphanet_68366 Lysosomal storage disease MONDO:MONDO:0002561,MedGen:C0085078,Orphanet:68366 1 1 1.0000 condition_record_support_limited 20 0 1 Lysosomal_storage_disease 386 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMPD1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 386 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMPD1 mondo_mondo_0011144_medgen_c5551375_omim_601780_orphanet_168491_orphanet_228363 Ceroid lipofuscinosis, neuronal, 6A MONDO:MONDO:0011144,MedGen:C5551375,OMIM:601780,Orphanet:168491,Orphanet:228363 1 1 1.0000 condition_record_support_limited 20 0 1 Ceroid_lipofuscinosis,_neuronal,_6A 386 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMPD1 human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 386 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMOC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 18 low_record_burden_interpretation_limited low_record_burden_gene SMO mondo_mondo_0011134_medgen_c0795915_omim_601707_orphanet_1553 Curry-Jones syndrome MONDO:MONDO:0011134,MedGen:C0795915,OMIM:601707,Orphanet:1553 1 1 1.0000 condition_record_support_limited 20 0 0 Curry-Jones_syndrome 11 low_record_burden_interpretation_limited low_record_burden_gene SMG9 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 12 low_record_burden_interpretation_limited low_record_burden_gene SMG9 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 12 low_record_burden_interpretation_limited low_record_burden_gene SMG9 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 12 low_record_burden_interpretation_limited low_record_burden_gene SMG9 human_phenotype_ontology_hp_0002508_human_phenotype_ontology_hp_0006991_medgen_c1855677 Brainstem dysplasia Human_Phenotype_Ontology:HP:0002508,Human_Phenotype_Ontology:HP:0006991,MedGen:C1855677 1 1 1.0000 condition_record_support_limited 20 0 1 Brainstem_dysplasia 12 low_record_burden_interpretation_limited low_record_burden_gene SMG9 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 12 low_record_burden_interpretation_limited low_record_burden_gene SMG9 human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Abnormal cardiovascular system morphology Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cardiovascular_system_morphology 12 low_record_burden_interpretation_limited low_record_burden_gene SMG8 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene SMCHD1 human_phenotype_ontology_hp_0000440_human_phenotype_ontology_hp_0000449_human_phenotype_ontology_hp_0000450_human_phenotype_ontology_hp_0003192_human_phenotype_ontology_hp_0003195_human_phenotype_ontology_hp_0003196_human_phenotype_ontology_hp_0005270_human_phenotype_ontology_hp_0200092_medgen_c1854114 Short nose Human_Phenotype_Ontology:HP:0000440,Human_Phenotype_Ontology:HP:0000449,Human_Phenotype_Ontology:HP:0000450,Human_Phenotype_Ontology:HP:0003192,Human_Phenotype_Ontology:HP:0003195,Human_Phenotype_Ontology:HP:0003196,Human_Phenotype_Ontology:HP:0005270,Human_Phenotype_Ontology:HP:0200092,MedGen:C1854114 1 1 1.0000 condition_record_support_limited 20 0 1 Short_nose 140 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SMCHD1 human_phenotype_ontology_hp_0008997_medgen_c1866012 Proximal upper limb muscle weakness Human_Phenotype_Ontology:HP:0008997,MedGen:C1866012 1 1 1.0000 condition_record_support_limited 20 0 0 Proximal_upper_limb_muscle_weakness 140 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SMCHD1 human_phenotype_ontology_hp_0001299_human_phenotype_ontology_hp_0003202_human_phenotype_ontology_hp_0003545_human_phenotype_ontology_hp_0003671_human_phenotype_ontology_hp_0003702_human_phenotype_ontology_hp_0003746_human_phenotype_ontology_hp_0006995_human_phenotype_ontology_hp_0007171_human_phenotype_ontology_hp_0007356_human_phenotype_ontology_hp_0009010_human_phenotype_ontology_hp_0009048_human_phenotype_ontology_hp_0100868_mondo_mondo_0004323_medgen_c0541794 Muscular atrophy Human_Phenotype_Ontology:HP:0001299,Human_Phenotype_Ontology:HP:0003202,Human_Phenotype_Ontology:HP:0003545,Human_Phenotype_Ontology:HP:0003671,Human_Phenotype_Ontology:HP:0003702,Human_Phenotype_Ontology:HP:0003746,Human_Phenotype_Ontology:HP:0006995,Human_Phenotype_Ontology:HP:0007171,Human_Phenotype_Ontology:HP:0007356,Human_Phenotype_Ontology:HP:0009010,Human_Phenotype_Ontology:HP:0009048,Human_Phenotype_Ontology:HP:0100868,MONDO:MONDO:0004323,MedGen:C0541794 1 1 1.0000 condition_record_support_limited 20 0 0 Muscular_atrophy 140 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SMCHD1 human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Muscle weakness Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 1 1 1.0000 condition_record_support_limited 20 0 1 Muscle_weakness 140 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SMCHD1 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 1 1 1.0000 condition_record_support_limited 20 0 1 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 140 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SMCHD1 mondo_mondo_0008963_medgen_c0007965_omim_214500_orphanet_167 Chédiak-Higashi syndrome MONDO:MONDO:0008963,MedGen:C0007965,OMIM:214500,Orphanet:167 1 1 1.0000 condition_record_support_limited 20 0 1 Chédiak-Higashi_syndrome 140 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SMCHD1 human_phenotype_ontology_hp_0000458_mondo_mondo_0010528_medgen_c0003126 Anosmia Human_Phenotype_Ontology:HP:0000458,MONDO:MONDO:0010528,MedGen:C0003126 1 1 1.0000 condition_record_support_limited 20 0 1 Anosmia 140 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SMC3 mondo_mondo_0011518_medgen_c1854630_omim_605130_orphanet_319182 Wiedemann-Steiner syndrome MONDO:MONDO:0011518,MedGen:C1854630,OMIM:605130,Orphanet:319182 1 1 1.0000 condition_record_support_limited 20 0 1 Wiedemann-Steiner_syndrome 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMC3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMC3 mondo_mondo_0007387_medgen_c4551851_omim_122470_orphanet_199 Cornelia de Lange syndrome 1 MONDO:MONDO:0007387,MedGen:C4551851,OMIM:122470,Orphanet:199 1 1 1.0000 condition_record_support_limited 20 0 0 Cornelia_de_Lange_syndrome_1 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMC1B medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 1 1 1.0000 condition_record_support_limited 20 0 0 Genetic_non-acquired_premature_ovarian_failure 1 low_record_burden_interpretation_limited low_record_burden_gene SMC1A human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 0 Seizure 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMC1A human_phenotype_ontology_hp_0000397_human_phenotype_ontology_hp_0000406_human_phenotype_ontology_hp_0000408_human_phenotype_ontology_hp_0008592_human_phenotype_ontology_hp_0008601_human_phenotype_ontology_hp_0008617_medgen_c1843156 Progressive sensorineural hearing impairment Human_Phenotype_Ontology:HP:0000397,Human_Phenotype_Ontology:HP:0000406,Human_Phenotype_Ontology:HP:0000408,Human_Phenotype_Ontology:HP:0008592,Human_Phenotype_Ontology:HP:0008601,Human_Phenotype_Ontology:HP:0008617,MedGen:C1843156 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_sensorineural_hearing_impairment 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMC1A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMC1A human_phenotype_ontology_hp_0001276_human_phenotype_ontology_hp_0002388_medgen_c0026826 Hypertonia Human_Phenotype_Ontology:HP:0001276,Human_Phenotype_Ontology:HP:0002388,MedGen:C0026826 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertonia 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMC1A human_phenotype_ontology_hp_0001007_medgen_c0019572 Hirsutism Human_Phenotype_Ontology:HP:0001007,MedGen:C0019572 1 1 1.0000 condition_record_support_limited 20 0 1 Hirsutism 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMC1A human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMC1A human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 1 Epileptic_encephalopathy 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMC1A mondo_mondo_0016033_medgen_c0270972_omim_ps122470_orphanet_199 De Lange syndrome MONDO:MONDO:0016033,MedGen:C0270972,OMIM:PS122470,Orphanet:199 1 1 1.0000 condition_record_support_limited 20 0 0 De_Lange_syndrome 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMC1A mondo_mondo_0007387_medgen_c4551851_omim_122470_orphanet_199 Cornelia de Lange syndrome 1 MONDO:MONDO:0007387,MedGen:C4551851,OMIM:122470,Orphanet:199 1 1 1.0000 condition_record_support_limited 20 0 1 Cornelia_de_Lange_syndrome_1 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMC1A mondo_mondo_0017746_medgen_c2748910_orphanet_3095 Atypical Rett syndrome MONDO:MONDO:0017746,MedGen:C2748910,Orphanet:3095 1 1 1.0000 condition_record_support_limited 20 0 0 Atypical_Rett_syndrome 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMC1A human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMC1A human_phenotype_ontology_hp_0001654_human_phenotype_ontology_hp_0001703_medgen_c0241654 Abnormal heart valve morphology Human_Phenotype_Ontology:HP:0001654,Human_Phenotype_Ontology:HP:0001703,MedGen:C0241654 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_heart_valve_morphology 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCE1 human_phenotype_ontology_hp_0002006_mondo_mondo_0015411_medgen_c0685787_orphanet_141229 Tessier cleft Human_Phenotype_Ontology:HP:0002006,MONDO:MONDO:0015411,MedGen:C0685787,Orphanet:141229 1 1 1.0000 condition_record_support_limited 20 0 0 Tessier_cleft 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCE1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCD2 smarcd2_related_disorder SMARCD2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SMARCD2-related_disorder 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCD1 mondo_mondo_0007184_medgen_c4049090_omim_109200 Alopecia, androgenetic, 1 MONDO:MONDO:0007184,MedGen:C4049090,OMIM:109200 1 1 1.0000 condition_record_support_limited 20 0 0 Alopecia,_androgenetic,_1 9 low_record_burden_interpretation_limited low_record_burden_gene SMARCC2 smarcc2_related_disorder SMARCC2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SMARCC2-related_disorder 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCC2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCC2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCC2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCC2 mondo_mondo_0007617_medgen_c3281201_omim_135900_orphanet_1465 Coffin-Siris syndrome 1 MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900,Orphanet:1465 1 1 1.0000 condition_record_support_limited 20 0 0 Coffin-Siris_syndrome_1 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 12 low_record_burden_interpretation_limited low_record_burden_gene SMARCC1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 12 low_record_burden_interpretation_limited low_record_burden_gene SMARCB1 medgen_c1836326 Teratoid tumor, atypical MedGen:C1836326 1 1 1.0000 condition_record_support_limited 20 0 0 Teratoid_tumor,_atypical 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCB1 medgen_c4016745 Schwannomatosis 1, somatic MedGen:C4016745 1 1 1.0000 condition_record_support_limited 20 0 0 Schwannomatosis_1,_somatic 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCB1 human_phenotype_ontology_hp_0100008_mondo_mondo_0002546_medgen_c0027809_orphanet_252164 Schwannoma Human_Phenotype_Ontology:HP:0100008,MONDO:MONDO:0002546,MedGen:C0027809,Orphanet:252164 1 1 1.0000 condition_record_support_limited 20 0 1 Schwannoma 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCB1 human_phenotype_ontology_hp_0009593_medgen_c4024276 Peripheral schwannoma Human_Phenotype_Ontology:HP:0009593,MedGen:C4024276 1 1 1.0000 condition_record_support_limited 20 0 1 Peripheral_schwannoma 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCB1 mondo_mondo_0016996_medgen_c4509932_orphanet_263665 NK-cell enteropathy MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665 1 1 1.0000 condition_record_support_limited 20 0 0 NK-cell_enteropathy 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCB1 medgen_c2750405 Malignant rhabdoid tumor, somatic MedGen:C2750405 1 1 1.0000 condition_record_support_limited 20 0 0 Malignant_rhabdoid_tumor,_somatic 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCAL1 mondo_mondo_0016244_medgen_c2931788_orphanet_2134 Atypical hemolytic-uremic syndrome MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134 1 1 1.0000 condition_record_support_limited 20 0 0 Atypical_hemolytic-uremic_syndrome 163 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA5 smarca5_related_disorder SMARCA5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SMARCA5-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene SMARCA5 human_phenotype_ontology_hp_0008647_medgen_c4024649 Pubertal developmental failure in females Human_Phenotype_Ontology:HP:0008647,MedGen:C4024649 1 1 1.0000 condition_record_support_limited 20 0 1 Pubertal_developmental_failure_in_females 9 low_record_burden_interpretation_limited low_record_burden_gene SMARCA5 human_phenotype_ontology_hp_0001763_mondo_mondo_0005293_medgen_c0016202 Pes planus Human_Phenotype_Ontology:HP:0001763,MONDO:MONDO:0005293,MedGen:C0016202 1 1 1.0000 condition_record_support_limited 20 0 1 Pes_planus 9 low_record_burden_interpretation_limited low_record_burden_gene SMARCA5 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 9 low_record_burden_interpretation_limited low_record_burden_gene SMARCA5 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 9 low_record_burden_interpretation_limited low_record_burden_gene SMARCA5 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 9 low_record_burden_interpretation_limited low_record_burden_gene SMARCA5 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 9 low_record_burden_interpretation_limited low_record_burden_gene SMARCA5 human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive 9 low_record_burden_interpretation_limited low_record_burden_gene SMARCA5 human_phenotype_ontology_hp_0002188_human_phenotype_ontology_hp_0005770_human_phenotype_ontology_hp_0006974_human_phenotype_ontology_hp_0007300_medgen_c4021758 Delayed CNS myelination Human_Phenotype_Ontology:HP:0002188,Human_Phenotype_Ontology:HP:0005770,Human_Phenotype_Ontology:HP:0006974,Human_Phenotype_Ontology:HP:0007300,MedGen:C4021758 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_CNS_myelination 9 low_record_burden_interpretation_limited low_record_burden_gene SMARCA4 mondo_mondo_0968980_medgen_c5935610_omim_620792 Otosclerosis 12 MONDO:MONDO:0968980,MedGen:C5935610,OMIM:620792 1 1 1.0000 condition_record_support_limited 20 0 1 Otosclerosis_12 321 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA4 human_phenotype_ontology_hp_0003006_human_phenotype_ontology_hp_0006738_mondo_mondo_0005072_mesh_d009447_medgen_c0027819_orphanet_635 Neuroblastoma Human_Phenotype_Ontology:HP:0003006,Human_Phenotype_Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635 1 1 1.0000 condition_record_support_limited 20 0 0 Neuroblastoma 321 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA4 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 321 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA4 human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Cleft palate Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 1.0000 condition_record_support_limited 20 0 1 Cleft_palate 321 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA4 mondo_mondo_0021079_medgen_c1368871 Childhood neoplasm MONDO:MONDO:0021079,MedGen:C1368871 1 1 1.0000 condition_record_support_limited 20 0 1 Childhood_neoplasm 321 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA4 human_phenotype_ontology_hp_0000729_medgen_c0856975 Autistic behavior Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 1.0000 condition_record_support_limited 20 0 1 Autistic_behavior 321 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA2 mondo_mondo_0019828_medgen_c4053775_orphanet_95496 Pituitary stalk interruption syndrome MONDO:MONDO:0019828,MedGen:C4053775,Orphanet:95496 1 1 1.0000 condition_record_support_limited 20 0 0 Pituitary_stalk_interruption_syndrome 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA2 human_phenotype_ontology_hp_0001007_medgen_c0019572 Hirsutism Human_Phenotype_Ontology:HP:0001007,MedGen:C0019572 1 1 1.0000 condition_record_support_limited 20 0 1 Hirsutism 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA2 mondo_mondo_0017393_medgen_c5229849_orphanet_293642 Blepharophimosis - intellectual disability syndrome MONDO:MONDO:0017393,MedGen:C5229849,Orphanet:293642 1 1 1.0000 condition_record_support_limited 20 0 0 Blepharophimosis_-_intellectual_disability_syndrome 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA2 human_phenotype_ontology_hp_0000507_human_phenotype_ontology_hp_0000513_human_phenotype_ontology_hp_0000581_mondo_mondo_0001008_medgen_c0005744 Blepharophimosis Human_Phenotype_Ontology:HP:0000507,Human_Phenotype_Ontology:HP:0000513,Human_Phenotype_Ontology:HP:0000581,MONDO:MONDO:0001008,MedGen:C0005744 1 1 1.0000 condition_record_support_limited 20 0 1 Blepharophimosis 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA2 autosomal_dominant_epilepsy Autosomal dominant epilepsy . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_epilepsy 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMARCA1 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 14 low_record_burden_interpretation_limited low_record_burden_gene SMAP1 mondo_mondo_0033363_medgen_c4479319_omim_617391 Developmental and epileptic encephalopathy, 54 MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_54 1 low_record_burden_interpretation_limited low_record_burden_gene SMAD9 medgen_c3697119_orphanet_275803 Pulmonary arterial hypertension associated with congenital heart disease MedGen:C3697119,Orphanet:275803 1 1 1.0000 condition_record_support_limited 20 0 1 Pulmonary_arterial_hypertension_associated_with_congenital_heart_disease 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD6 human_phenotype_ontology_hp_0012727_mondo_mondo_0005396_medgen_c0162872 Thoracic aortic aneurysm Human_Phenotype_Ontology:HP:0012727,MONDO:MONDO:0005396,MedGen:C0162872 1 1 1.0000 condition_record_support_limited 20 0 0 Thoracic_aortic_aneurysm 82 compact_adjacent_exon_block_opportunity local_compact_architecture SMAD6 human_phenotype_ontology_hp_0005458_medgen_c0277827 Premature closure of fontanelles Human_Phenotype_Ontology:HP:0005458,MedGen:C0277827 1 1 1.0000 condition_record_support_limited 20 0 1 Premature_closure_of_fontanelles 82 compact_adjacent_exon_block_opportunity local_compact_architecture SMAD6 human_phenotype_ontology_hp_0006034_human_phenotype_ontology_hp_0006046_human_phenotype_ontology_hp_0006123_human_phenotype_ontology_hp_0009605_human_phenotype_ontology_hp_0010442_mondo_mondo_0021003_medgen_c0152427_omim_603596 Polydactyly Human_Phenotype_Ontology:HP:0006034,Human_Phenotype_Ontology:HP:0006046,Human_Phenotype_Ontology:HP:0006123,Human_Phenotype_Ontology:HP:0009605,Human_Phenotype_Ontology:HP:0010442,MONDO:MONDO:0021003,MedGen:C0152427,OMIM:603596 1 1 1.0000 condition_record_support_limited 20 0 1 Polydactyly 82 compact_adjacent_exon_block_opportunity local_compact_architecture SMAD6 human_phenotype_ontology_hp_0001121_human_phenotype_ontology_hp_0001357_medgen_c0265529 Plagiocephaly Human_Phenotype_Ontology:HP:0001121,Human_Phenotype_Ontology:HP:0001357,MedGen:C0265529 1 1 1.0000 condition_record_support_limited 20 0 1 Plagiocephaly 82 compact_adjacent_exon_block_opportunity local_compact_architecture SMAD6 human_phenotype_ontology_hp_0000254_human_phenotype_ontology_hp_0000333_human_phenotype_ontology_hp_0001358_human_phenotype_ontology_hp_0001359_human_phenotype_ontology_hp_0002007_medgen_c0221354 Frontal bossing Human_Phenotype_Ontology:HP:0000254,Human_Phenotype_Ontology:HP:0000333,Human_Phenotype_Ontology:HP:0001358,Human_Phenotype_Ontology:HP:0001359,Human_Phenotype_Ontology:HP:0002007,MedGen:C0221354 1 1 1.0000 condition_record_support_limited 20 0 1 Frontal_bossing 82 compact_adjacent_exon_block_opportunity local_compact_architecture SMAD6 mondo_mondo_0100547_medgen_cn377187 Cardiogenetic disease MONDO:MONDO:0100547,MedGen:CN377187 1 1 1.0000 condition_record_support_limited 20 0 0 Cardiogenetic_disease 82 compact_adjacent_exon_block_opportunity local_compact_architecture SMAD6 mondo_mondo_0024523_medgen_c3887892_omim_109730 Aortic valve disease 1 MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730 1 1 1.0000 condition_record_support_limited 20 0 0 Aortic_valve_disease_1 82 compact_adjacent_exon_block_opportunity local_compact_architecture SMAD4 human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombocytopenia 300 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SMAD4 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 300 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SMAD4 mondo_mondo_0009831_medgen_c0346647 Malignant tumor of pancreas MONDO:MONDO:0009831,MedGen:C0346647 1 1 1.0000 condition_record_support_limited 20 0 0 Malignant_tumor_of_pancreas 300 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SMAD4 medgen_c1832940 Juvenile polyposis of stomach MedGen:C1832940 1 1 1.0000 condition_record_support_limited 20 0 1 Juvenile_polyposis_of_stomach 300 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SMAD4 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 300 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SMAD4 mondo_mondo_0005411_medgen_c0153452 Gallbladder cancer MONDO:MONDO:0005411,MedGen:C0153452 1 1 1.0000 condition_record_support_limited 20 0 1 Gallbladder_cancer 300 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SMAD4 mondo_mondo_0009297_medgen_c3245525_omim_233100_orphanet_69076 Familial renal glucosuria MONDO:MONDO:0009297,MedGen:C3245525,OMIM:233100,Orphanet:69076 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_renal_glucosuria 300 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SMAD4 familial_aortopathy Familial aortopathy MedGen:CN078214 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_aortopathy 300 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SMAD4 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 300 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SMAD4 human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_bleeding 300 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SMAD3 isolated_thoracic_aortic_aneurysm Isolated thoracic aortic aneurysm . 1 1 1.0000 condition_record_support_limited 20 0 0 Isolated_thoracic_aortic_aneurysm 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD3 human_phenotype_ontology_hp_0004933_medgen_c1836653 Ascending aortic dissection Human_Phenotype_Ontology:HP:0004933,MedGen:C1836653 1 1 1.0000 condition_record_support_limited 20 0 1 Ascending_aortic_dissection 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD3 aortic_aneurysm_familial_thoracic_smad3_related Aortic aneurysm, familial thoracic, SMAD3 related MedGen:CN231478 1 1 1.0000 condition_record_support_limited 20 0 1 Aortic_aneurysm,_familial_thoracic,_SMAD3_related 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD3 human_phenotype_ontology_hp_0004942_mondo_mondo_0005160_medgen_c0003486 Aortic aneurysm Human_Phenotype_Ontology:HP:0004942,MONDO:MONDO:0005160,MedGen:C0003486 1 1 1.0000 condition_record_support_limited 20 0 1 Aortic_aneurysm 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD2 smad2_related_cardiac_disorders SMAD2-related cardiac disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 SMAD2-related_cardiac_disorders 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD2 mondo_mondo_0012212_medgen_c4551955_omim_609192_orphanet_60030 Loeys-Dietz syndrome 1 MONDO:MONDO:0012212,MedGen:C4551955,OMIM:609192,Orphanet:60030 1 1 1.0000 condition_record_support_limited 20 0 0 Loeys-Dietz_syndrome_1 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD2 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SMAD2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 0 Cardiovascular_phenotype 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLX4 slx4_related_disorder SLX4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SLX4-related_disorder 153 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SLX4 human_phenotype_ontology_hp_0012174_human_phenotype_ontology_hp_0100843_medgen_c1621958 Glioblastoma multiforme Human_Phenotype_Ontology:HP:0012174,Human_Phenotype_Ontology:HP:0100843,MedGen:C1621958 1 1 1.0000 condition_record_support_limited 20 0 0 Glioblastoma_multiforme 153 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SLTM mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 Jeune thoracic dystrophy MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 1 1 1.0000 condition_record_support_limited 20 0 0 Jeune_thoracic_dystrophy 1 low_record_burden_interpretation_limited low_record_burden_gene SLPI mondo_mondo_0008162_medgen_c1833692_omim_166760 Otitis media, susceptibility to MONDO:MONDO:0008162,MedGen:C1833692,OMIM:166760 1 1 1.0000 condition_record_support_limited 20 0 0 Otitis_media,_susceptibility_to 1 low_record_burden_interpretation_limited low_record_burden_gene SLK condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene SLITRK6 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 9 low_record_burden_interpretation_limited low_record_burden_gene SLITRK5 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 1 low_record_burden_interpretation_limited low_record_burden_gene SLITRK3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene SLITRK1 human_phenotype_ontology_hp_0012167_mondo_mondo_0013189_medgen_c0040953_omim_613229 Trichotillomania Human_Phenotype_Ontology:HP:0012167,MONDO:MONDO:0013189,MedGen:C0040953,OMIM:613229 1 1 1.0000 condition_record_support_limited 20 0 1 Trichotillomania 2 low_record_burden_interpretation_limited low_record_burden_gene SLIT3 familial_congenital_diaphragmatic_hernia Familial congenital diaphragmatic hernia . 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_congenital_diaphragmatic_hernia 1 low_record_burden_interpretation_limited low_record_burden_gene SLIT1 mondo_mondo_0011224_medgen_c1865384_omim_602440_orphanet_65684 Monomelic amyotrophy MONDO:MONDO:0011224,MedGen:C1865384,OMIM:602440,Orphanet:65684 1 1 1.0000 condition_record_support_limited 20 0 0 Monomelic_amyotrophy 1 low_record_burden_interpretation_limited low_record_burden_gene SLFN14 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 4 low_record_burden_interpretation_limited low_record_burden_gene SLFN11 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 1 low_record_burden_interpretation_limited low_record_burden_gene SLCO2A1 mondo_mondo_0016620_medgen_c0029411_omim_ps259100_orphanet_2796 Pachydermoperiostosis syndrome MONDO:MONDO:0016620,MedGen:C0029411,OMIM:PS259100,Orphanet:2796 1 1 1.0000 condition_record_support_limited 20 0 0 Pachydermoperiostosis_syndrome 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLCO1B1 slco1b1_related_disorder SLCO1B1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SLCO1B1-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene SLC9B1 mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 Usher syndrome MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 1 1 1.0000 condition_record_support_limited 20 0 0 Usher_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene SLC9A9 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 2 low_record_burden_interpretation_limited low_record_burden_gene SLC9A9 mondo_mondo_0013258_medgen_c3150677_omim_613410 Autism, susceptibility to, 16 MONDO:MONDO:0013258,MedGen:C3150677,OMIM:613410 1 1 1.0000 condition_record_support_limited 20 0 0 Autism,_susceptibility_to,_16 2 low_record_burden_interpretation_limited low_record_burden_gene SLC9A7 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene SLC9A7 slc9a7_related_neurodevelopmental_disorder SLC9A7-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SLC9A7-related_neurodevelopmental_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene SLC9A6 human_phenotype_ontology_hp_0002360_medgen_c0037317 Sleep disturbance Human_Phenotype_Ontology:HP:0002360,MedGen:C0037317 1 1 1.0000 condition_record_support_limited 20 0 1 Sleep_disturbance 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC9A6 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC9A6 human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 1.0000 condition_record_support_limited 20 0 1 Scoliosis 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC9A6 slc9a6_related_disorder SLC9A6-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SLC9A6-related_disorder 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC9A6 human_phenotype_ontology_hp_0002205_human_phenotype_ontology_hp_0002782_human_phenotype_ontology_hp_0002873_medgen_c3806482 Recurrent respiratory infections Human_Phenotype_Ontology:HP:0002205,Human_Phenotype_Ontology:HP:0002782,Human_Phenotype_Ontology:HP:0002873,MedGen:C3806482 1 1 1.0000 condition_record_support_limited 20 0 1 Recurrent_respiratory_infections 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC9A6 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC9A6 human_phenotype_ontology_hp_0011471_medgen_c4023342 Gastrostomy tube feeding in infancy Human_Phenotype_Ontology:HP:0011471,MedGen:C4023342 1 1 1.0000 condition_record_support_limited 20 0 1 Gastrostomy_tube_feeding_in_infancy 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC9A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 6 low_record_burden_interpretation_limited low_record_burden_gene SLC7A8 human_phenotype_ontology_hp_0000518_mondo_mondo_0005129_mesh_d002386_medgen_c0086543_omim_ps116200 Cataract Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200 1 1 1.0000 condition_record_support_limited 20 0 0 Cataract 3 low_record_burden_interpretation_limited low_record_burden_gene SLC7A7 mondo_mondo_0019751_medgen_c3890737_orphanet_93665 Autoinflammatory syndrome MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 1 1 1.0000 condition_record_support_limited 20 0 1 Autoinflammatory_syndrome 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A9 condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene SLC6A8 mondo_mondo_0010334_medgen_c3806634_omim_300475_orphanet_369939_orphanet_369942 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:MONDO:0010334,MedGen:C3806634,OMIM:300475,Orphanet:369939,Orphanet:369942 1 1 1.0000 condition_record_support_limited 20 0 0 Severe_motor_and_intellectual_disabilities-sensorineural_deafness-dystonia_syndrome 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A8 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A8 slc6a8_related_disorder SLC6A8-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SLC6A8-related_disorder 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A8 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A8 human_phenotype_ontology_hp_0000369_medgen_c0239234 Low-set ears Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234 1 1 1.0000 condition_record_support_limited 20 0 1 Low-set_ears 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A8 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A6 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 3 low_record_burden_interpretation_limited low_record_burden_gene SLC6A5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A4 mondo_mondo_0008114_medgen_c0028768_omim_164230 Obsessive-compulsive disorder MONDO:MONDO:0008114,MedGen:C0028768,OMIM:164230 1 1 1.0000 condition_record_support_limited 20 0 0 Obsessive-compulsive_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene SLC6A3 slc6a3_related_disorder SLC6A3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SLC6A3-related_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene SLC6A2 mondo_mondo_0001315_medgen_c1535893_omim_604715 Neurocirculatory asthenia MONDO:MONDO:0001315,MedGen:C1535893,OMIM:604715 1 1 1.0000 condition_record_support_limited 20 0 0 Neurocirculatory_asthenia 1 low_record_burden_interpretation_limited low_record_burden_gene SLC6A13 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene SLC6A1 slc6a1_related_neurodevelopmental_disorder SLC6A1-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SLC6A1-related_neurodevelopmental_disorder 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A1 mondo_mondo_0014150_medgen_c3809278_omim_615369_orphanet_1942_orphanet_2382 Developmental and epileptic encephalopathy 94 MONDO:MONDO:0014150,MedGen:C3809278,OMIM:615369,Orphanet:1942,Orphanet:2382 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy_94 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A1 autosomal_dominant_epilepsy Autosomal dominant epilepsy . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_epilepsy 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC6A1 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC66A1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene SLC5A7 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene SLC5A7 mondo_mondo_0018993_medgen_c0270914_orphanet_64746 Charcot-Marie-Tooth disease type 2 MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746 1 1 1.0000 condition_record_support_limited 20 0 0 Charcot-Marie-Tooth_disease_type_2 19 low_record_burden_interpretation_limited low_record_burden_gene SLC5A6 slc5a6_related_disorder SLC5A6-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SLC5A6-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene SLC5A5 congenital_hypothyreodism congenital hypothyreodism . 1 1 1.0000 condition_record_support_limited 20 0 0 congenital_hypothyreodism 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC5A5 human_phenotype_ontology_hp_0000851_mondo_mondo_0018612_medgen_c0010308_orphanet_442 Congenital hypothyroidism Human_Phenotype_Ontology:HP:0000851,MONDO:MONDO:0018612,MedGen:C0010308,Orphanet:442 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_hypothyroidism 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC5A2 renal_tubulopathies Renal tubulopathies . 1 1 1.0000 condition_record_support_limited 20 0 0 Renal_tubulopathies 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC5A1 slc5a1_related_glucose_galactose_malabsorption SLC5A1-related glucose/galactose malabsorption . 1 1 1.0000 condition_record_support_limited 20 0 1 SLC5A1-related_glucose/galactose_malabsorption 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC5A1 medgen_c0017980 Renal glycosuria MedGen:C0017980 1 1 1.0000 condition_record_support_limited 20 0 0 Renal_glycosuria 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC52A3 mondo_mondo_0021944_medgen_c1852271_omim_ps609129 Auditory neuropathy MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 1 1 1.0000 condition_record_support_limited 20 0 0 Auditory_neuropathy 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC52A2 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorineural_hearing_loss_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC52A2 mondo_mondo_0024537_medgen_c0796274_omim_211530_orphanet_572543_orphanet_97229 Brown-Vialetto-van Laere syndrome 1 MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530,Orphanet:572543,Orphanet:97229 1 1 1.0000 condition_record_support_limited 20 0 1 Brown-Vialetto-van_Laere_syndrome_1 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC52A2 medgen_c2732267 Auditory neuropathy spectrum disorder MedGen:C2732267 1 1 1.0000 condition_record_support_limited 20 0 0 Auditory_neuropathy_spectrum_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC52A1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene SLC51B human_phenotype_ontology_hp_0002014_medgen_c0011991 Diarrhea Human_Phenotype_Ontology:HP:0002014,MedGen:C0011991 1 1 1.0000 condition_record_support_limited 20 0 1 Diarrhea 1 low_record_burden_interpretation_limited low_record_burden_gene SLC51B human_phenotype_ontology_hp_0001396_mondo_mondo_0001751_medgen_c0008370 Cholestasis Human_Phenotype_Ontology:HP:0001396,MONDO:MONDO:0001751,MedGen:C0008370 1 1 1.0000 condition_record_support_limited 20 0 1 Cholestasis 1 low_record_burden_interpretation_limited low_record_burden_gene SLC51B mondo_mondo_0859180_medgen_c5561962_omim_619481 Bile acid malabsorption, primary, 2 MONDO:MONDO:0859180,MedGen:C5561962,OMIM:619481 1 1 1.0000 condition_record_support_limited 20 0 1 Bile_acid_malabsorption,_primary,_2 1 low_record_burden_interpretation_limited low_record_burden_gene SLC51A mondo_mondo_0030360_medgen_c5561965_omim_619484 Cholestasis, progressive familial intrahepatic, 6 MONDO:MONDO:0030360,MedGen:C5561965,OMIM:619484 1 1 1.0000 condition_record_support_limited 20 0 0 Cholestasis,_progressive_familial_intrahepatic,_6 1 low_record_burden_interpretation_limited low_record_burden_gene SLC4A4 slc4a4_related_disorder SLC4A4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SLC4A4-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene SLC4A4 mondo_mondo_0014547_medgen_c4015643_omim_616239_orphanet_444458 Combined oxidative phosphorylation defect type 24 MONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239,Orphanet:444458 1 1 1.0000 condition_record_support_limited 20 0 0 Combined_oxidative_phosphorylation_defect_type_24 17 low_record_burden_interpretation_limited low_record_burden_gene SLC4A2 human_phenotype_ontology_hp_0008341_mondo_mondo_0015827_medgen_c1704380_orphanet_18 Distal renal tubular acidosis Human_Phenotype_Ontology:HP:0008341,MONDO:MONDO:0015827,MedGen:C1704380,Orphanet:18 1 1 1.0000 condition_record_support_limited 20 0 0 Distal_renal_tubular_acidosis 3 low_record_burden_interpretation_limited low_record_burden_gene SLC4A11 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 179 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC4A1 medgen_c1969039 Renal tubular acidosis, distal, with normal red cell morphology MedGen:C1969039 1 1 1.0000 condition_record_support_limited 20 0 0 Renal_tubular_acidosis,_distal,_with_normal_red_cell_morphology 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC4A1 medgen_c1969379 Malaria, cerebral, resistance to MedGen:C1969379 1 1 1.0000 condition_record_support_limited 20 0 1 Malaria,_cerebral,_resistance_to 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC49A3 mondo_mondo_0013429_medgen_c3151107_omim_613801_orphanet_791 Retinitis pigmentosa 40 MONDO:MONDO:0013429,MedGen:C3151107,OMIM:613801,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa_40 1 low_record_burden_interpretation_limited low_record_burden_gene SLC46A1 slc46a1_related_disorder SLC46A1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SLC46A1-related_disorder 26 compact_adjacent_exon_block_opportunity local_compact_architecture SLC46A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 26 compact_adjacent_exon_block_opportunity local_compact_architecture SLC45A2 human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombocytopenia 112 compact_adjacent_exon_block_opportunity local_compact_architecture SLC45A2 albinism_or_congenital_nystagmus Albinism or congenital nystagmus . 1 1 1.0000 condition_record_support_limited 20 0 1 Albinism_or_congenital_nystagmus 112 compact_adjacent_exon_block_opportunity local_compact_architecture SLC45A2 human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_bleeding 112 compact_adjacent_exon_block_opportunity local_compact_architecture SLC45A1 mondo_mondo_0044322_medgen_c4479636_omim_617532 Intellectual developmental disorder with neuropsychiatric features MONDO:MONDO:0044322,MedGen:C4479636,OMIM:617532 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder_with_neuropsychiatric_features 1 low_record_burden_interpretation_limited low_record_burden_gene SLC44A1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene SLC44A1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene SLC41A1 mondo_mondo_0859175_medgen_c5561953_omim_619468 Nephronophthisis-like nephropathy 2 MONDO:MONDO:0859175,MedGen:C5561953,OMIM:619468 1 1 1.0000 condition_record_support_limited 20 0 0 Nephronophthisis-like_nephropathy_2 1 low_record_burden_interpretation_limited low_record_burden_gene SLC3A1 human_phenotype_ontology_hp_0000102_human_phenotype_ontology_hp_0000787_mondo_mondo_0008171_medgen_c0392525 Nephrolithiasis Human_Phenotype_Ontology:HP:0000102,Human_Phenotype_Ontology:HP:0000787,MONDO:MONDO:0008171,MedGen:C0392525 1 1 1.0000 condition_record_support_limited 20 0 1 Nephrolithiasis 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC3A1 human_phenotype_ontology_hp_0000121_mondo_mondo_0001567_medgen_c0027709 Nephrocalcinosis Human_Phenotype_Ontology:HP:0000121,MONDO:MONDO:0001567,MedGen:C0027709 1 1 1.0000 condition_record_support_limited 20 0 1 Nephrocalcinosis 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC3A1 mondo_mondo_0044299_medgen_c4479088_omim_616224 Myasthenic syndrome, congenital, 22 MONDO:MONDO:0044299,MedGen:C4479088,OMIM:616224 1 1 1.0000 condition_record_support_limited 20 0 0 Myasthenic_syndrome,_congenital,_22 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC3A1 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC39A5 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene SLC39A4 rare_genetic_inflammatory_skin_disorders Rare genetic inflammatory skin disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_inflammatory_skin_disorders 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC39A14 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene SLC39A13 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene SLC39A13 mondo_mondo_0012873_medgen_c2676510_omim_612350_orphanet_157965 Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:MONDO:0012873,MedGen:C2676510,OMIM:612350,Orphanet:157965 1 1 1.0000 condition_record_support_limited 20 0 0 Ehlers-Danlos_syndrome,_spondylocheirodysplastic_type 2 low_record_burden_interpretation_limited low_record_burden_gene SLC38A8 mondo_mondo_0034978_medgen_c1850993_orphanet_519398 Isolated foveal hypoplasia MONDO:MONDO:0034978,MedGen:C1850993,Orphanet:519398 1 1 1.0000 condition_record_support_limited 20 0 0 Isolated_foveal_hypoplasia 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC38A8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC38A8 foveal_hypoplasia_2_with_optic_nerve_misrouting FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING . 1 1 1.0000 condition_record_support_limited 20 0 0 FOVEAL_HYPOPLASIA_2_WITH_OPTIC_NERVE_MISROUTING 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC38A3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene SLC35D1 slc35d1_related_disorder SLC35D1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SLC35D1-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene SLC35B2 medgen_c5680275_orphanet_93441 Primary bone dysplasia with multiple joint dislocations MedGen:C5680275,Orphanet:93441 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_bone_dysplasia_with_multiple_joint_dislocations 3 low_record_burden_interpretation_limited low_record_burden_gene SLC35A3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC35A3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC35A2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC35A2 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 0 Epileptic_encephalopathy 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC35A2 mondo_mondo_0015286_medgen_c0282577_orphanet_137 Congenital disorder of glycosylation MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_disorder_of_glycosylation 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC34A3 hypophosphataemia_or_rickets Hypophosphataemia or rickets . 1 1 1.0000 condition_record_support_limited 20 0 1 Hypophosphataemia_or_rickets 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC34A3 human_phenotype_ontology_hp_0002150_medgen_c0020438 Hypercalciuria Human_Phenotype_Ontology:HP:0002150,MedGen:C0020438 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercalciuria 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC34A2 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_breast_ovarian_cancer_syndrome 19 low_record_burden_interpretation_limited low_record_burden_gene SLC34A1 mondo_mondo_0009804_medgen_c0268362_omim_259420_orphanet_216812_orphanet_666 Osteogenesis imperfecta type III MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420,Orphanet:216812,Orphanet:666 1 1 1.0000 condition_record_support_limited 20 0 0 Osteogenesis_imperfecta_type_III 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC34A1 human_phenotype_ontology_hp_0000102_human_phenotype_ontology_hp_0000787_mondo_mondo_0008171_medgen_c0392525 Nephrolithiasis Human_Phenotype_Ontology:HP:0000102,Human_Phenotype_Ontology:HP:0000787,MONDO:MONDO:0008171,MedGen:C0392525 1 1 1.0000 condition_record_support_limited 20 0 1 Nephrolithiasis 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC34A1 human_phenotype_ontology_hp_0000121_mondo_mondo_0001567_medgen_c0027709 Nephrocalcinosis Human_Phenotype_Ontology:HP:0000121,MONDO:MONDO:0001567,MedGen:C0027709 1 1 1.0000 condition_record_support_limited 20 0 1 Nephrocalcinosis 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC34A1 factor_xii_locarno FACTOR XII (LOCARNO) . 1 1 1.0000 condition_record_support_limited 20 0 0 FACTOR_XII_(LOCARNO) 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC34A1 mondo_mondo_0000212_medgen_c4329374_omim_ps143880_orphanet_300547 Autosomal recessive infantile hypercalcemia MONDO:MONDO:0000212,MedGen:C4329374,OMIM:PS143880,Orphanet:300547 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_infantile_hypercalcemia 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC33A1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene SLC33A1 human_phenotype_ontology_hp_0000821_human_phenotype_ontology_hp_0003222_human_phenotype_ontology_hp_0008203_mondo_mondo_0005420_medgen_c0020676 Hypothyroidism Human_Phenotype_Ontology:HP:0000821,Human_Phenotype_Ontology:HP:0003222,Human_Phenotype_Ontology:HP:0008203,MONDO:MONDO:0005420,MedGen:C0020676 1 1 1.0000 condition_record_support_limited 20 0 1 Hypothyroidism 10 low_record_burden_interpretation_limited low_record_burden_gene SLC33A1 mondo_mondo_0012928_medgen_c2675528_omim_612539_orphanet_171863 Hereditary spastic paraplegia 42 MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia_42 10 low_record_burden_interpretation_limited low_record_burden_gene SLC33A1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 10 low_record_burden_interpretation_limited low_record_burden_gene SLC33A1 human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive 10 low_record_burden_interpretation_limited low_record_burden_gene SLC32A1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene SLC31A1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene SLC30A9 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 6 low_record_burden_interpretation_limited low_record_burden_gene SLC30A7 human_phenotype_ontology_hp_0000029_mondo_mondo_0001415_medgen_c0156312 Testicular atrophy Human_Phenotype_Ontology:HP:0000029,MONDO:MONDO:0001415,MedGen:C0156312 1 1 1.0000 condition_record_support_limited 20 0 1 Testicular_atrophy 6 low_record_burden_interpretation_limited low_record_burden_gene SLC30A7 mondo_mondo_0014206_medgen_c4225400_omim_615486_orphanet_440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency MONDO:MONDO:0014206,MedGen:C4225400,OMIM:615486,Orphanet:440427 1 1 1.0000 condition_record_support_limited 20 0 0 Severe_early-onset_pulmonary_alveolar_proteinosis_due_to_MARS_deficiency 6 low_record_burden_interpretation_limited low_record_burden_gene SLC30A7 mondo_mondo_0008944_medgen_c4551568_omim_213300 Joubert syndrome 1 MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300 1 1 1.0000 condition_record_support_limited 20 0 0 Joubert_syndrome_1 6 low_record_burden_interpretation_limited low_record_burden_gene SLC30A7 human_phenotype_ontology_hp_0000043_human_phenotype_ontology_hp_0008734_medgen_c0241355 Decreased testicular size Human_Phenotype_Ontology:HP:0000043,Human_Phenotype_Ontology:HP:0008734,MedGen:C0241355 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_testicular_size 6 low_record_burden_interpretation_limited low_record_burden_gene SLC2A2 mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 Congenital long QT syndrome MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_long_QT_syndrome 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A1 intellectual_deficiency intellectual deficiency MedGen:CN228659 1 1 1.0000 condition_record_support_limited 20 0 1 intellectual_deficiency 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A1 human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 1.0000 condition_record_support_limited 20 0 1 Strabismus 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A1 mondo_mondo_0007295_medgen_c0376532_orphanet_1945 Self-limited epilepsy with centrotemporal spikes MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 1 1 1.0000 condition_record_support_limited 20 0 0 Self-limited_epilepsy_with_centrotemporal_spikes 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A1 human_phenotype_ontology_hp_0002268_human_phenotype_ontology_hp_0002412_mondo_mondo_0016058_medgen_c0393588_orphanet_200037 Paroxysmal dystonia Human_Phenotype_Ontology:HP:0002268,Human_Phenotype_Ontology:HP:0002412,MONDO:MONDO:0016058,MedGen:C0393588,Orphanet:200037 1 1 1.0000 condition_record_support_limited 20 0 1 Paroxysmal_dystonia 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A1 human_phenotype_ontology_hp_0001336_human_phenotype_ontology_hp_0002535_human_phenotype_ontology_hp_0007087_medgen_c0027066 Myoclonus Human_Phenotype_Ontology:HP:0001336,Human_Phenotype_Ontology:HP:0002535,Human_Phenotype_Ontology:HP:0007087,MedGen:C0027066 1 1 1.0000 condition_record_support_limited 20 0 1 Myoclonus 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A1 human_phenotype_ontology_hp_0011170_mondo_mondo_0014633_medgen_c0393702_omim_616421_orphanet_1942 Epilepsy with myoclonic atonic seizures Human_Phenotype_Ontology:HP:0011170,MONDO:MONDO:0014633,MedGen:C0393702,OMIM:616421,Orphanet:1942 1 1 1.0000 condition_record_support_limited 20 0 0 Epilepsy_with_myoclonic_atonic_seizures 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A1 mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A1 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_disorder 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A1 mondo_mondo_0010632_medgen_c3463992_omim_308350 Developmental and epileptic encephalopathy, 1 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_1 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A1 mondo_mondo_0013238_medgen_c3150607_omim_613355_orphanet_261279 Chromosome 17q23.1-q23.2 deletion syndrome MONDO:MONDO:0013238,MedGen:C3150607,OMIM:613355,Orphanet:261279 1 1 1.0000 condition_record_support_limited 20 0 1 Chromosome_17q23.1-q23.2_deletion_syndrome 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A1 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC2A1 human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 338 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC29A3 pigmentary_skin_disorders Pigmentary skin disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Pigmentary_skin_disorders 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC29A1 mondo_mondo_0006760_medgen_c0014761_orphanet_275938 Hemolytic disease of fetus OR newborn due to isoimmunization MONDO:MONDO:0006760,MedGen:C0014761,Orphanet:275938 1 1 1.0000 condition_record_support_limited 20 0 0 Hemolytic_disease_of_fetus_OR_newborn_due_to_isoimmunization 1 low_record_burden_interpretation_limited low_record_burden_gene SLC27A4 mondo_mondo_0017265_medgen_c1274215_omim_ps242300_orphanet_281097 Autosomal recessive congenital ichthyosis MONDO:MONDO:0017265,MedGen:C1274215,OMIM:PS242300,Orphanet:281097 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_congenital_ichthyosis 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC27A2 mondo_mondo_0005439_medgen_c0020445_omim_ps143890 Familial hypercholesterolemia MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_hypercholesterolemia 1 low_record_burden_interpretation_limited low_record_burden_gene SLC26A4 human_phenotype_ontology_hp_0001716_mondo_mondo_0008685_medgen_c0043202_omim_194200 Wolff-Parkinson-White pattern Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200 1 1 1.0000 condition_record_support_limited 20 0 1 Wolff-Parkinson-White_pattern 631 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A4 mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 1 1 1.0000 condition_record_support_limited 20 0 1 RASopathy 631 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A4 autosomal_recessive_slc26a4_related_disorders Autosomal recessive SLC26A4-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_SLC26A4-related_disorders 631 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A3 human_phenotype_ontology_hp_0004796_medgen_c0236124 Gastrointestinal obstruction Human_Phenotype_Ontology:HP:0004796,MedGen:C0236124 1 1 1.0000 condition_record_support_limited 20 0 1 Gastrointestinal_obstruction 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A2 medgen_c1857255 Diastrophic dysplasia, broad bone-platyspondylic variant MedGen:C1857255 1 1 1.0000 condition_record_support_limited 20 0 1 Diastrophic_dysplasia,_broad_bone-platyspondylic_variant 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A2 mondo_mondo_0800307_medgen_c1850555 De la Chapelle dysplasia MONDO:MONDO:0800307,MedGen:C1850555 1 1 1.0000 condition_record_support_limited 20 0 1 De_la_Chapelle_dysplasia 234 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A11 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene SLC26A11 mondo_mondo_0018937_medgen_c0026706_orphanet_581 Sanfilippo syndrome MONDO:MONDO:0018937,MedGen:C0026706,Orphanet:581 1 1 1.0000 condition_record_support_limited 20 0 1 Sanfilippo_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene SLC26A11 sgsh_related_disorder SGSH-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SGSH-related_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene SLC26A11 mondo_mondo_0009655_medgen_c0086647_omim_252900_orphanet_581_orphanet_79269 Mucopolysaccharidosis, MPS-III-A MONDO:MONDO:0009655,MedGen:C0086647,OMIM:252900,Orphanet:581,Orphanet:79269 1 1 1.0000 condition_record_support_limited 20 0 1 Mucopolysaccharidosis,_MPS-III-A 1 low_record_burden_interpretation_limited low_record_burden_gene SLC26A11 mondo_mondo_0019249_mesh_d009083_medgen_c0026703_omim_ps607014_orphanet_79213 Mucopolysaccharidosis MONDO:MONDO:0019249,MeSH:D009083,MedGen:C0026703,OMIM:PS607014,Orphanet:79213 1 1 1.0000 condition_record_support_limited 20 0 1 Mucopolysaccharidosis 1 low_record_burden_interpretation_limited low_record_burden_gene SLC26A11 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 1 low_record_burden_interpretation_limited low_record_burden_gene SLC26A1 human_phenotype_ontology_hp_0008672_human_phenotype_ontology_hp_0008700_human_phenotype_ontology_hp_0008725_mondo_mondo_0957318_medgen_c1833683_omim_ps167030 Nephrolithiasis, calcium oxalate Human_Phenotype_Ontology:HP:0008672,Human_Phenotype_Ontology:HP:0008700,Human_Phenotype_Ontology:HP:0008725,MONDO:MONDO:0957318,MedGen:C1833683,OMIM:PS167030 1 1 1.0000 condition_record_support_limited 20 0 1 Nephrolithiasis,_calcium_oxalate 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A1 mondo_mondo_0019249_mesh_d009083_medgen_c0026703_omim_ps607014_orphanet_79213 Mucopolysaccharidosis MONDO:MONDO:0019249,MeSH:D009083,MedGen:C0026703,OMIM:PS607014,Orphanet:79213 1 1 1.0000 condition_record_support_limited 20 0 1 Mucopolysaccharidosis 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A1 human_phenotype_ontology_hp_0006515_medgen_c0206061 Interstitial pneumonitis Human_Phenotype_Ontology:HP:0006515,MedGen:C0206061 1 1 1.0000 condition_record_support_limited 20 0 1 Interstitial_pneumonitis 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC26A1 mondo_mondo_0957268_medgen_c5830511_omim_620372 Hypersulfaturia MONDO:MONDO:0957268,MedGen:C5830511,OMIM:620372 1 1 1.0000 condition_record_support_limited 20 0 1 Hypersulfaturia 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A46 slc25a46_associated_optic_atrophy_spectrum_disorder SLC25A46-associated optic atrophy spectrum disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SLC25A46-associated_optic_atrophy_spectrum_disorder 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A42 slc25a42_related_mitochondrial_encephalomyopathy SLC25A42-related mitochondrial encephalomyopathy . 1 1 1.0000 condition_record_support_limited 20 0 0 SLC25A42-related_mitochondrial_encephalomyopathy 4 low_record_burden_interpretation_limited low_record_burden_gene SLC25A42 slc25a42_related_mitochondrial_disorder SLC25A42-related mitochondrial disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SLC25A42-related_mitochondrial_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene SLC25A42 human_phenotype_ontology_hp_0003737_human_phenotype_ontology_hp_0008960_mondo_mondo_0009637_medgen_c0162670_orphanet_206966 Inborn mitochondrial myopathy Human_Phenotype_Ontology:HP:0003737,Human_Phenotype_Ontology:HP:0008960,MONDO:MONDO:0009637,MedGen:C0162670,Orphanet:206966 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_mitochondrial_myopathy 4 low_record_burden_interpretation_limited low_record_burden_gene SLC25A42 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 4 low_record_burden_interpretation_limited low_record_burden_gene SLC25A4 human_phenotype_ontology_hp_0002321_medgen_c0042571 Vertigo Human_Phenotype_Ontology:HP:0002321,MedGen:C0042571 1 1 1.0000 condition_record_support_limited 20 0 1 Vertigo 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A4 slc25a4_related_disorder SLC25A4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SLC25A4-related_disorder 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A4 human_phenotype_ontology_hp_0000397_human_phenotype_ontology_hp_0000406_human_phenotype_ontology_hp_0000408_human_phenotype_ontology_hp_0008592_human_phenotype_ontology_hp_0008601_human_phenotype_ontology_hp_0008617_medgen_c1843156 Progressive sensorineural hearing impairment Human_Phenotype_Ontology:HP:0000397,Human_Phenotype_Ontology:HP:0000406,Human_Phenotype_Ontology:HP:0000408,Human_Phenotype_Ontology:HP:0008592,Human_Phenotype_Ontology:HP:0008601,Human_Phenotype_Ontology:HP:0008617,MedGen:C1843156 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_sensorineural_hearing_impairment 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A4 human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Myopia Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 1 1 1.0000 condition_record_support_limited 20 0 1 Myopia 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A4 human_phenotype_ontology_hp_0200125_medgen_c2751582 Mitochondrial respiratory chain defects Human_Phenotype_Ontology:HP:0200125,MedGen:C2751582 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_respiratory_chain_defects 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A4 human_phenotype_ontology_hp_0001712_human_phenotype_ontology_hp_0005171_medgen_c0149721 Left ventricular hypertrophy Human_Phenotype_Ontology:HP:0001712,Human_Phenotype_Ontology:HP:0005171,MedGen:C0149721 1 1 1.0000 condition_record_support_limited 20 0 1 Left_ventricular_hypertrophy 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A4 human_phenotype_ontology_hp_0003737_human_phenotype_ontology_hp_0008960_mondo_mondo_0009637_medgen_c0162670_orphanet_206966 Inborn mitochondrial myopathy Human_Phenotype_Ontology:HP:0003737,Human_Phenotype_Ontology:HP:0008960,MONDO:MONDO:0009637,MedGen:C0162670,Orphanet:206966 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_mitochondrial_myopathy 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A4 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrophic_cardiomyopathy 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A4 human_phenotype_ontology_hp_0003287_medgen_c4021734 Abnormality of mitochondrial metabolism Human_Phenotype_Ontology:HP:0003287,MedGen:C4021734 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_mitochondrial_metabolism 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A26 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene SLC25A26 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 7 low_record_burden_interpretation_limited low_record_burden_gene SLC25A25 human_phenotype_ontology_hp_0000102_human_phenotype_ontology_hp_0000787_mondo_mondo_0008171_medgen_c0392525 Nephrolithiasis Human_Phenotype_Ontology:HP:0000102,Human_Phenotype_Ontology:HP:0000787,MONDO:MONDO:0008171,MedGen:C0392525 1 1 1.0000 condition_record_support_limited 20 0 0 Nephrolithiasis 1 low_record_burden_interpretation_limited low_record_burden_gene SLC25A24 human_phenotype_ontology_hp_0000726_human_phenotype_ontology_hp_0002274_human_phenotype_ontology_hp_0007122_human_phenotype_ontology_hp_0007150_human_phenotype_ontology_hp_0007283_mondo_mondo_0001627_medgen_c0497327 Dementia Human_Phenotype_Ontology:HP:0000726,Human_Phenotype_Ontology:HP:0002274,Human_Phenotype_Ontology:HP:0007122,Human_Phenotype_Ontology:HP:0007150,Human_Phenotype_Ontology:HP:0007283,MONDO:MONDO:0001627,MedGen:C0497327 1 1 1.0000 condition_record_support_limited 20 0 1 Dementia 3 low_record_burden_interpretation_limited low_record_burden_gene SLC25A24 human_phenotype_ontology_hp_0001306_human_phenotype_ontology_hp_0002069_human_phenotype_ontology_hp_0002407_human_phenotype_ontology_hp_0007252_medgen_c0494475 Bilateral tonic-clonic seizure Human_Phenotype_Ontology:HP:0001306,Human_Phenotype_Ontology:HP:0002069,Human_Phenotype_Ontology:HP:0002407,Human_Phenotype_Ontology:HP:0007252,MedGen:C0494475 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_tonic-clonic_seizure 3 low_record_burden_interpretation_limited low_record_burden_gene SLC25A22 slc25a22_related_disorder SLC25A22-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SLC25A22-related_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A21 mondo_mondo_0032932_medgen_c5394140_omim_618811 Mitochondrial DNA depletion syndrome 18 MONDO:MONDO:0032932,MedGen:C5394140,OMIM:618811 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_DNA_depletion_syndrome_18 1 low_record_burden_interpretation_limited low_record_burden_gene SLC25A19 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene SLC25A16 cerebral_visual_impairment_and_intellectual_disability Cerebral visual impairment and intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_visual_impairment_and_intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene SLC25A15 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_breast_ovarian_cancer_syndrome 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A15 efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 Cardiac arrhythmia EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiac_arrhythmia 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A13 mondo_mondo_0009894_medgen_c0024507_omim_263520 Short-rib thoracic dysplasia 6 with or without polydactyly MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520 1 1 1.0000 condition_record_support_limited 20 0 1 Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly 213 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A13 mondo_mondo_0008988_medgen_c4721769_omim_215700_orphanet_247525 Citrullinemia type I MONDO:MONDO:0008988,MedGen:C4721769,OMIM:215700,Orphanet:247525 1 1 1.0000 condition_record_support_limited 20 0 1 Citrullinemia_type_I 213 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A12 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC25A10 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 3 low_record_burden_interpretation_limited low_record_burden_gene SLC25A10 mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 Mitochondrial complex I deficiency MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency 3 low_record_burden_interpretation_limited low_record_burden_gene SLC25A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC24A5 medgen_c2676042 Skin/hair/eye pigmentation, variation in, 4 MedGen:C2676042 1 1 1.0000 condition_record_support_limited 20 0 0 Skin/hair/eye_pigmentation,_variation_in,_4 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC24A5 slc24a5_related_disorder SLC24A5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SLC24A5-related_disorder 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC24A5 mondo_mondo_0018910_medgen_c0078918_omim_ps203100_orphanet_55 Oculocutaneous albinism MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55 1 1 1.0000 condition_record_support_limited 20 0 1 Oculocutaneous_albinism 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC24A5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC24A4 human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Amelogenesis imperfecta Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 1 1 1.0000 condition_record_support_limited 20 0 0 Amelogenesis_imperfecta 5 low_record_burden_interpretation_limited low_record_burden_gene SLC24A1 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC22A5 mondo_mondo_0014939_medgen_c4310694_omim_617143 Congenital myasthenic syndrome 20 MONDO:MONDO:0014939,MedGen:C4310694,OMIM:617143 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myasthenic_syndrome_20 285 compact_adjacent_exon_block_opportunity local_compact_architecture SLC22A5 human_phenotype_ontology_hp_0008942_medgen_c3807306 Acute rhabdomyolysis Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_rhabdomyolysis 285 compact_adjacent_exon_block_opportunity local_compact_architecture SLC1A4 slc1a4_related_spastic_tetraplegia_thin_corpus_callosum_progressive_postnatal_microcephaly_syndrome SLC1A4-related spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 SLC1A4-related_spastic_tetraplegia-thin_corpus_callosum-progressive_postnatal_microcephaly_syndrome 32 compact_adjacent_exon_block_opportunity local_compact_architecture SLC1A4 slc1a4_related_disorder SLC1A4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SLC1A4-related_disorder 32 compact_adjacent_exon_block_opportunity local_compact_architecture SLC1A1 cerebral_visual_impairment_and_intellectual_disability Cerebral visual impairment and intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_visual_impairment_and_intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene SLC19A3 thiamine_metabolism_dysfunction_syndrome_2_biotin_thiamine_responsive_basal_ganglia_disease_type Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type) . 1 1 1.0000 condition_record_support_limited 20 0 1 Thiamine_metabolism_dysfunction_syndrome_2_(biotin/thiamine-responsive_basal_ganglia_disease_type) 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC19A3 slc19a3_related_disorder SLC19A3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SLC19A3-related_disorder 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC19A2 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorineural_hearing_loss_disorder 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC19A2 possible_mitochondrial_disorder_nuclear_genes Possible mitochondrial disorder - nuclear genes . 1 1 1.0000 condition_record_support_limited 20 0 0 Possible_mitochondrial_disorder_-_nuclear_genes 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC19A2 human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 1.0000 condition_record_support_limited 20 0 1 Ear_malformation 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC19A1 early_onset_and_severe_retinal_dystrophy early onset and severe retinal dystrophy . 1 1 1.0000 condition_record_support_limited 20 0 0 early_onset_and_severe_retinal_dystrophy 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC19A1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC19A1 human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 1.0000 condition_record_support_limited 20 0 1 Nystagmus 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC19A1 human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 1.0000 condition_record_support_limited 20 0 1 Macular_dystrophy 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC19A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC19A1 mondo_mondo_0957955_medgen_c5882719_omim_620603 Immunodeficiency 114, folate-responsive MONDO:MONDO:0957955,MedGen:C5882719,OMIM:620603 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_114,_folate-responsive 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC19A1 human_phenotype_ontology_hp_0000569_human_phenotype_ontology_hp_0011003_medgen_c0271183 High myopia Human_Phenotype_Ontology:HP:0000569,Human_Phenotype_Ontology:HP:0011003,MedGen:C0271183 1 1 1.0000 condition_record_support_limited 20 0 1 High_myopia 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC19A1 mondo_mondo_0030038_medgen_c5394374_omim_618880 Hereditary glaucoma, primary closed-angle MONDO:MONDO:0030038,MedGen:C5394374,OMIM:618880 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_glaucoma,_primary_closed-angle 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC19A1 mondo_mondo_0008021_medgen_cn072330_omim_158350 Cowden syndrome 1 MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350 1 1 1.0000 condition_record_support_limited 20 0 1 Cowden_syndrome_1 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC19A1 human_phenotype_ontology_hp_0000518_mondo_mondo_0005129_mesh_d002386_medgen_c0086543_omim_ps116200 Cataract Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200 1 1 1.0000 condition_record_support_limited 20 0 1 Cataract 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC18A3 mondo_mondo_0014983_medgen_c4310654_omim_617239 Congenital myasthenic syndrome 21 MONDO:MONDO:0014983,MedGen:C4310654,OMIM:617239 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_myasthenic_syndrome_21 3 low_record_burden_interpretation_limited low_record_burden_gene SLC18A2 human_phenotype_ontology_hp_0012484_medgen_c4022885 Abnormal dense granules Human_Phenotype_Ontology:HP:0012484,MedGen:C4022885 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_dense_granules 13 low_record_burden_interpretation_limited low_record_burden_gene SLC18A2 human_phenotype_ontology_hp_0012529_medgen_c4021839 Abnormal dense granule content Human_Phenotype_Ontology:HP:0012529,MedGen:C4021839 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_dense_granule_content 13 low_record_burden_interpretation_limited low_record_burden_gene SLC18A2 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 13 low_record_burden_interpretation_limited low_record_burden_gene SLC17A9 mondo_mondo_0014479_medgen_c4015128_omim_616063_orphanet_79152 Porokeratosis 8, disseminated superficial actinic type MONDO:MONDO:0014479,MedGen:C4015128,OMIM:616063,Orphanet:79152 1 1 1.0000 condition_record_support_limited 20 0 0 Porokeratosis_8,_disseminated_superficial_actinic_type 1 low_record_burden_interpretation_limited low_record_burden_gene SLC17A8 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene SLC17A5 mondo_mondo_0017737_medgen_c5681076_orphanet_309331 Intermediate severe Salla disease MONDO:MONDO:0017737,MedGen:C5681076,Orphanet:309331 1 1 1.0000 condition_record_support_limited 20 0 1 Intermediate_severe_Salla_disease 154 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC17A5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 154 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC17A5 mondo_mondo_0019366_medgen_c2931872_orphanet_10870_orphanet_834 Free sialic acid storage disease MONDO:MONDO:0019366,MedGen:C2931872,Orphanet:10870,Orphanet:834 1 1 1.0000 condition_record_support_limited 20 0 0 Free_sialic_acid_storage_disease 154 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC16A2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 112 compact_adjacent_exon_block_opportunity local_compact_architecture SLC16A2 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 0 Hypotonia 112 compact_adjacent_exon_block_opportunity local_compact_architecture SLC16A2 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia 112 compact_adjacent_exon_block_opportunity local_compact_architecture SLC16A2 human_phenotype_ontology_hp_0002928_medgen_c1839888 Decreased activity of the pyruvate dehydrogenase complex Human_Phenotype_Ontology:HP:0002928,MedGen:C1839888 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_activity_of_the_pyruvate_dehydrogenase_complex 112 compact_adjacent_exon_block_opportunity local_compact_architecture SLC16A13 mondo_mondo_0014551_medgen_cn379227_omim_616255 Short stature with nonspecific skeletal abnormalities 1 MONDO:MONDO:0014551,MedGen:CN379227,OMIM:616255 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature_with_nonspecific_skeletal_abnormalities_1 1 low_record_burden_interpretation_limited low_record_burden_gene SLC16A12 mondo_mondo_0012786_medgen_c4310806_omim_612018_orphanet_247794 Juvenile cataract-microcornea-renal glucosuria syndrome MONDO:MONDO:0012786,MedGen:C4310806,OMIM:612018,Orphanet:247794 1 1 1.0000 condition_record_support_limited 20 0 0 Juvenile_cataract-microcornea-renal_glucosuria_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene SLC16A1 mondo_mondo_0009501_medgen_c1855577_omim_245340_orphanet_171690 Metabolic myopathy due to lactate transporter defect MONDO:MONDO:0009501,MedGen:C1855577,OMIM:245340,Orphanet:171690 1 1 1.0000 condition_record_support_limited 20 0 1 Metabolic_myopathy_due_to_lactate_transporter_defect 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC14A1 jk_null_variant_finnish_type Jk-null variant, finnish type . 1 1 1.0000 condition_record_support_limited 20 0 0 Jk-null_variant,_finnish_type 5 low_record_burden_interpretation_limited low_record_burden_gene SLC13A5 mondo_mondo_0018614_medgen_c5680057_orphanet_442835 Undetermined early-onset epileptic encephalopathy MONDO:MONDO:0018614,MedGen:C5680057,Orphanet:442835 1 1 1.0000 condition_record_support_limited 20 0 1 Undetermined_early-onset_epileptic_encephalopathy 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC13A5 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC13A5 slc13a5_related_disorder SLC13A5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SLC13A5-related_disorder 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC13A5 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC13A5 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC13A5 human_phenotype_ontology_hp_0000106_human_phenotype_ontology_hp_0001918_human_phenotype_ontology_hp_0008671_human_phenotype_ontology_hp_0012622_mondo_mondo_0005300_medgen_c1561643 Chronic kidney disease Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643 1 1 1.0000 condition_record_support_limited 20 0 1 Chronic_kidney_disease 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A9 mondo_mondo_0015009_medgen_c4310629_omim_617300 Lymphatic malformation 7 MONDO:MONDO:0015009,MedGen:C4310629,OMIM:617300 1 1 1.0000 condition_record_support_limited 20 0 1 Lymphatic_malformation_7 7 low_record_burden_interpretation_limited low_record_burden_gene SLC12A6 mondo_mondo_0010171_medgen_c1848604_omim_276904_orphanet_231169_orphanet_886 Usher syndrome type 1C MONDO:MONDO:0010171,MedGen:C1848604,OMIM:276904,Orphanet:231169,Orphanet:886 1 1 1.0000 condition_record_support_limited 20 0 1 Usher_syndrome_type_1C 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A6 human_phenotype_ontology_hp_0000369_medgen_c0239234 Low-set ears Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234 1 1 1.0000 condition_record_support_limited 20 0 1 Low-set_ears 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A6 human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Hypertelorism Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertelorism 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A6 human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Corpus callosum, agenesis of Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 1.0000 condition_record_support_limited 20 0 1 Corpus_callosum,_agenesis_of 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A6 human_phenotype_ontology_hp_0001158_human_phenotype_ontology_hp_0001588_human_phenotype_ontology_hp_0004209_human_phenotype_ontology_hp_0004212_human_phenotype_ontology_hp_0006083_human_phenotype_ontology_hp_0006181_human_phenotype_ontology_hp_0009181_medgen_c1850049 Clinodactyly of the 5th finger Human_Phenotype_Ontology:HP:0001158,Human_Phenotype_Ontology:HP:0001588,Human_Phenotype_Ontology:HP:0004209,Human_Phenotype_Ontology:HP:0004212,Human_Phenotype_Ontology:HP:0006083,Human_Phenotype_Ontology:HP:0006181,Human_Phenotype_Ontology:HP:0009181,MedGen:C1850049 1 1 1.0000 condition_record_support_limited 20 0 1 Clinodactyly_of_the_5th_finger 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A6 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A5 mondo_mondo_0014734_medgen_c4225245_omim_616685 Epilepsy, idiopathic generalized, susceptibility to, 14 MONDO:MONDO:0014734,MedGen:C4225245,OMIM:616685 1 1 1.0000 condition_record_support_limited 20 0 0 Epilepsy,_idiopathic_generalized,_susceptibility_to,_14 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A4 mondo_mondo_0018999_medgen_c5779633_orphanet_650_orphanet_79293 LCAT deficiency MONDO:MONDO:0018999,MedGen:C5779633,Orphanet:650,Orphanet:79293 1 1 1.0000 condition_record_support_limited 20 0 1 LCAT_deficiency 5 low_record_burden_interpretation_limited low_record_burden_gene SLC12A4 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 5 low_record_burden_interpretation_limited low_record_burden_gene SLC12A3 human_phenotype_ontology_hp_0001947_mondo_mondo_0001909_medgen_c0001126 Renal tubular acidosis Human_Phenotype_Ontology:HP:0001947,MONDO:MONDO:0001909,MedGen:C0001126 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_tubular_acidosis 453 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A3 human_phenotype_ontology_hp_0003326_human_phenotype_ontology_hp_0003718_medgen_c0231528 Myalgia Human_Phenotype_Ontology:HP:0003326,Human_Phenotype_Ontology:HP:0003718,MedGen:C0231528 1 1 1.0000 condition_record_support_limited 20 0 1 Myalgia 453 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A3 human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Muscle weakness Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 1 1 1.0000 condition_record_support_limited 20 0 1 Muscle_weakness 453 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A3 mondo_mondo_0015962_medgen_c5680544_orphanet_183592 Inherited renal tubular disease MONDO:MONDO:0015962,MedGen:C5680544,Orphanet:183592 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_renal_tubular_disease 453 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A3 human_phenotype_ontology_hp_0002900_medgen_c0020621 Hypokalemia Human_Phenotype_Ontology:HP:0002900,MedGen:C0020621 1 1 1.0000 condition_record_support_limited 20 0 1 Hypokalemia 453 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A3 human_phenotype_ontology_hp_0002918_medgen_c1522135 Hypermagnesemia Human_Phenotype_Ontology:HP:0002918,MedGen:C1522135 1 1 1.0000 condition_record_support_limited 20 0 1 Hypermagnesemia 453 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A3 familial_aortopathy Familial aortopathy MedGen:CN078214 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_aortopathy 453 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A2 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorineural_hearing_loss_disorder 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A2 human_phenotype_ontology_hp_0012736_medgen_c3553450 Profound global developmental delay Human_Phenotype_Ontology:HP:0012736,MedGen:C3553450 1 1 1.0000 condition_record_support_limited 20 0 0 Profound_global_developmental_delay 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A2 infant_onset_multiple_organ_failure Infant onset multiple organ failure . 1 1 1.0000 condition_record_support_limited 20 0 0 Infant_onset_multiple_organ_failure 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC12A2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SLC11A2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene SLC11A2 slc11a2_related_disorder SLC11A2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SLC11A2-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene SLC10A2 mondo_mondo_0013214_medgen_c5561934_omim_613291 Bile acid malabsorption, primary, 1 MONDO:MONDO:0013214,MedGen:C5561934,OMIM:613291 1 1 1.0000 condition_record_support_limited 20 0 0 Bile_acid_malabsorption,_primary,_1 1 low_record_burden_interpretation_limited low_record_burden_gene SLC10A1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene SLC10A1 mondo_mondo_0031003_medgen_c5543243_omim_619256 Hypercholanemia, familial, 2 MONDO:MONDO:0031003,MedGen:C5543243,OMIM:619256 1 1 1.0000 condition_record_support_limited 20 0 1 Hypercholanemia,_familial,_2 6 low_record_burden_interpretation_limited low_record_burden_gene SLA tg_related_disorder TG-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 TG-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene SKOR2 mondo_mondo_0980707_medgen_cn380060_omim_621386 Valence-Farazi cerebellar ataxia syndrome MONDO:MONDO:0980707,MedGen:CN380060,OMIM:621386 1 1 1.0000 condition_record_support_limited 20 0 0 Valence-Farazi_cerebellar_ataxia_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene SKIC2 mondo_mondo_0020849_medgen_c4748212_omim_618108 Immunodeficiency 57 MONDO:MONDO:0020849,MedGen:C4748212,OMIM:618108 1 1 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency_57 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SKI human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 32 compact_adjacent_exon_block_opportunity local_compact_architecture SKI human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 32 compact_adjacent_exon_block_opportunity local_compact_architecture SKI human_phenotype_ontology_hp_0001519_human_phenotype_ontology_hp_0003511_human_phenotype_ontology_hp_0008864_medgen_c1836996 Disproportionate tall stature Human_Phenotype_Ontology:HP:0001519,Human_Phenotype_Ontology:HP:0003511,Human_Phenotype_Ontology:HP:0008864,MedGen:C1836996 1 1 1.0000 condition_record_support_limited 20 0 1 Disproportionate_tall_stature 32 compact_adjacent_exon_block_opportunity local_compact_architecture SKI human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 1.0000 condition_record_support_limited 20 0 0 Craniosynostosis_syndrome 32 compact_adjacent_exon_block_opportunity local_compact_architecture SIX6 human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 1.0000 condition_record_support_limited 20 0 1 Nystagmus 8 low_record_burden_interpretation_limited low_record_burden_gene SIX6 human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Microphthalmia Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 1 1 1.0000 condition_record_support_limited 20 0 1 Microphthalmia 8 low_record_burden_interpretation_limited low_record_burden_gene SIX6 human_phenotype_ontology_hp_0000482_human_phenotype_ontology_hp_0100688_medgen_c0266544 Microcornea Human_Phenotype_Ontology:HP:0000482,Human_Phenotype_Ontology:HP:0100688,MedGen:C0266544 1 1 1.0000 condition_record_support_limited 20 0 1 Microcornea 8 low_record_burden_interpretation_limited low_record_burden_gene SIX6 human_phenotype_ontology_hp_0007720_mondo_mondo_0000733_medgen_c0344529_omim_ps121400_orphanet_53691 Cornea plana Human_Phenotype_Ontology:HP:0007720,MONDO:MONDO:0000733,MedGen:C0344529,OMIM:PS121400,Orphanet:53691 1 1 1.0000 condition_record_support_limited 20 0 1 Cornea_plana 8 low_record_burden_interpretation_limited low_record_burden_gene SIX3 human_phenotype_ontology_hp_0010636_mondo_mondo_0010011_medgen_c0266484_omim_269160_orphanet_799 Schizencephaly Human_Phenotype_Ontology:HP:0010636,MONDO:MONDO:0010011,MedGen:C0266484,OMIM:269160,Orphanet:799 1 1 1.0000 condition_record_support_limited 20 0 1 Schizencephaly 31 compact_adjacent_exon_block_opportunity local_compact_architecture SIX3 six3_related_disorder SIX3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SIX3-related_disorder 31 compact_adjacent_exon_block_opportunity local_compact_architecture SIX2 condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene SIX1 monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 0 Monogenic_hearing_loss 25 compact_adjacent_exon_block_opportunity local_compact_architecture SIX1 mondo_mondo_0007029_medgen_c0265234_omim_ps113650_orphanet_107 Melnick-Fraser syndrome MONDO:MONDO:0007029,MedGen:C0265234,OMIM:PS113650,Orphanet:107 1 1 1.0000 condition_record_support_limited 20 0 0 Melnick-Fraser_syndrome 25 compact_adjacent_exon_block_opportunity local_compact_architecture SIX1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 25 compact_adjacent_exon_block_opportunity local_compact_architecture SIX1 mondo_mondo_0007236_medgen_c4551702_omim_113650_orphanet_107 Branchiootorenal syndrome 1 MONDO:MONDO:0007236,MedGen:C4551702,OMIM:113650,Orphanet:107 1 1 1.0000 condition_record_support_limited 20 0 1 Branchiootorenal_syndrome_1 25 compact_adjacent_exon_block_opportunity local_compact_architecture SIX1 mondo_mondo_0018878_medgen_c4273131_omim_ps602588_orphanet_52429 Branchiootic syndrome MONDO:MONDO:0018878,MedGen:C4273131,OMIM:PS602588,Orphanet:52429 1 1 1.0000 condition_record_support_limited 20 0 1 Branchiootic_syndrome 25 compact_adjacent_exon_block_opportunity local_compact_architecture SIX1 mondo_mondo_0019587_medgen_c5779548_omim_ps124900_orphanet_90635 Autosomal dominant nonsyndromic hearing loss MONDO:MONDO:0019587,MedGen:C5779548,OMIM:PS124900,Orphanet:90635 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_nonsyndromic_hearing_loss 25 compact_adjacent_exon_block_opportunity local_compact_architecture SIRT6 mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 1 low_record_burden_interpretation_limited low_record_burden_gene SIRT4 rnu4_2_related_condition RNU4-2-related condition . 1 1 1.0000 condition_record_support_limited 20 0 1 RNU4-2-related_condition 30 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SIRT4 rnu4_2_associated_neurodevelopmental_disorder RNU4-2-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RNU4-2-associated_neurodevelopmental_disorder 30 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SIRT4 autosomal_recessive_rnu4_2_related_neurodevelopmental_disorder Autosomal recessive RNU4-2-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_RNU4-2-related_neurodevelopmental_disorder 30 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SIPA1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene SIPA1 mondo_mondo_0032659_medgen_c4748997_omim_618287 Mucocutaneous ulceration, chronic MONDO:MONDO:0032659,MedGen:C4748997,OMIM:618287 1 1 1.0000 condition_record_support_limited 20 0 1 Mucocutaneous_ulceration,_chronic 1 low_record_burden_interpretation_limited low_record_burden_gene SIN3B sin3b_related_neurodevelopmental_disorder SIN3B-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SIN3B-related_neurodevelopmental_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene SIN3B mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene SIN3B human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Congenital ocular coloboma Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_ocular_coloboma 3 low_record_burden_interpretation_limited low_record_burden_gene SIN3A mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SIN3A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SIN3A mondo_mondo_0013256_medgen_c3150674_orphanet_94065 Chromosome 15q24 deletion syndrome MONDO:MONDO:0013256,MedGen:C3150674,Orphanet:94065 1 1 1.0000 condition_record_support_limited 20 0 0 Chromosome_15q24_deletion_syndrome 107 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SIM2 neurodevelopmental_with_craniofacial_anomalies_disorder Neurodevelopmental with craniofacial anomalies disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_with_craniofacial_anomalies_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene SIM1 sim1_associated_metabolic_syndrome SIM1-associated metabolic syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 SIM1-associated_metabolic_syndrome 11 low_record_burden_interpretation_limited low_record_burden_gene SIM1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene SIM1 human_phenotype_ontology_hp_0001156_human_phenotype_ontology_hp_0001189_human_phenotype_ontology_hp_0001201_human_phenotype_ontology_hp_0005630_human_phenotype_ontology_hp_0005657_human_phenotype_ontology_hp_0005727_human_phenotype_ontology_hp_0006017_human_phenotype_ontology_hp_0006128_human_phenotype_ontology_hp_0100667_mondo_mondo_0021004_medgen_c0221357 Brachydactyly Human_Phenotype_Ontology:HP:0001156,Human_Phenotype_Ontology:HP:0001189,Human_Phenotype_Ontology:HP:0001201,Human_Phenotype_Ontology:HP:0005630,Human_Phenotype_Ontology:HP:0005657,Human_Phenotype_Ontology:HP:0005727,Human_Phenotype_Ontology:HP:0006017,Human_Phenotype_Ontology:HP:0006128,Human_Phenotype_Ontology:HP:0100667,MONDO:MONDO:0021004,MedGen:C0221357 1 1 1.0000 condition_record_support_limited 20 0 1 Brachydactyly 11 low_record_burden_interpretation_limited low_record_burden_gene SIK1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene SIK1 human_phenotype_ontology_hp_0002463_mondo_mondo_0004750_medgen_c0023015 Language disorder Human_Phenotype_Ontology:HP:0002463,MONDO:MONDO:0004750,MedGen:C0023015 1 1 1.0000 condition_record_support_limited 20 0 1 Language_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene SIK1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 8 low_record_burden_interpretation_limited low_record_burden_gene SIAH1 siah1_related_neurodevelopmental_disorder SIAH1-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SIAH1-related_neurodevelopmental_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene SIAH1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene SI mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 162 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SI congenital_sucrose_isomaltase_deficiency Congenital sucrose-isomaltase deficiency . 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_sucrose-isomaltase_deficiency 162 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SHROOM4 mondo_mondo_0010325_medgen_c1845530_omim_300434_orphanet_85288 X-linked intellectual disability, Stocco dos Santos type MONDO:MONDO:0010325,MedGen:C1845530,OMIM:300434,Orphanet:85288 1 1 1.0000 condition_record_support_limited 20 0 0 X-linked_intellectual_disability,_Stocco_dos_Santos_type 1 low_record_burden_interpretation_limited low_record_burden_gene SHROOM2 mondo_mondo_0007972_medgen_c0025281_omim_156000 Meniere disease MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000 1 1 1.0000 condition_record_support_limited 20 0 0 Meniere_disease 1 low_record_burden_interpretation_limited low_record_burden_gene SHQ1 condition_not_provided condition not provided MedGen:CN169374 1 1 1.0000 condition_record_support_limited 20 1 0 not_specified 3 low_record_burden_interpretation_limited low_record_burden_gene SHOX monogenic_short_statue Monogenic short statue . 1 1 1.0000 condition_record_support_limited 20 0 0 Monogenic_short_statue 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SHOX mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 1 1 1.0000 condition_record_support_limited 20 0 0 Connective_tissue_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SHOC2 shoc2_related_disorder SHOC2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SHOC2-related_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene SHOC2 mondo_mondo_0033004_medgen_c4540575_omim_263200 Polycystic kidney disease 4 MONDO:MONDO:0033004,MedGen:C4540575,OMIM:263200 1 1 1.0000 condition_record_support_limited 20 0 1 Polycystic_kidney_disease_4 6 low_record_burden_interpretation_limited low_record_burden_gene SHOC2 human_phenotype_ontology_hp_0000767_human_phenotype_ontology_hp_0006613_human_phenotype_ontology_hp_0006617_mondo_mondo_0008213_medgen_c2051831_omim_169300 Pectus excavatum Human_Phenotype_Ontology:HP:0000767,Human_Phenotype_Ontology:HP:0006613,Human_Phenotype_Ontology:HP:0006617,MONDO:MONDO:0008213,MedGen:C2051831,OMIM:169300 1 1 1.0000 condition_record_support_limited 20 0 1 Pectus_excavatum 6 low_record_burden_interpretation_limited low_record_burden_gene SHOC2 mondo_mondo_0011899_medgen_c1843181_omim_ps607721_orphanet_2701 Noonan syndrome-like disorder with loose anagen hair MONDO:MONDO:0011899,MedGen:C1843181,OMIM:PS607721,Orphanet:2701 1 1 1.0000 condition_record_support_limited 20 0 1 Noonan_syndrome-like_disorder_with_loose_anagen_hair 6 low_record_burden_interpretation_limited low_record_burden_gene SHOC2 mondo_mondo_0020297_medgen_c5681679_orphanet_98733 Noonan syndrome and Noonan-related syndrome MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 1 1 1.0000 condition_record_support_limited 20 0 1 Noonan_syndrome_and_Noonan-related_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene SHOC2 human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 1.0000 condition_record_support_limited 20 0 1 Non-immune_hydrops_fetalis 6 low_record_burden_interpretation_limited low_record_burden_gene SHOC2 mondo_mondo_0014605_medgen_c4225352_omim_616362_orphanet_457284 Houge-Janssens syndrome 2 MONDO:MONDO:0014605,MedGen:C4225352,OMIM:616362,Orphanet:457284 1 1 1.0000 condition_record_support_limited 20 0 1 Houge-Janssens_syndrome_2 6 low_record_burden_interpretation_limited low_record_burden_gene SHOC1 shoc1_related_condition SHOC1-related condition . 1 1 1.0000 condition_record_support_limited 20 0 1 SHOC1-related_condition 13 low_record_burden_interpretation_limited low_record_burden_gene SHOC1 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 1.0000 condition_record_support_limited 20 0 0 Non-obstructive_azoospermia 13 low_record_burden_interpretation_limited low_record_burden_gene SHH human_phenotype_ontology_hp_0100842_mondo_mondo_0008428_medgen_c0338503_omim_182230_orphanet_3157 Septo-optic dysplasia sequence Human_Phenotype_Ontology:HP:0100842,MONDO:MONDO:0008428,MedGen:C0338503,OMIM:182230,Orphanet:3157 1 1 1.0000 condition_record_support_limited 20 0 1 Septo-optic_dysplasia_sequence 125 compact_adjacent_exon_block_opportunity local_compact_architecture SHH mondo_mondo_0008270_medgen_c1868114_omim_174500_orphanet_2439_orphanet_2950_orphanet_93336 Polydactyly of a triphalangeal thumb MONDO:MONDO:0008270,MedGen:C1868114,OMIM:174500,Orphanet:2439,Orphanet:2950,Orphanet:93336 1 1 1.0000 condition_record_support_limited 20 0 0 Polydactyly_of_a_triphalangeal_thumb 125 compact_adjacent_exon_block_opportunity local_compact_architecture SHH human_phenotype_ontology_hp_0001338_human_phenotype_ontology_hp_0006982_human_phenotype_ontology_hp_0007090_human_phenotype_ontology_hp_0007128_medgen_c0431368 Partial agenesis of the corpus callosum Human_Phenotype_Ontology:HP:0001338,Human_Phenotype_Ontology:HP:0006982,Human_Phenotype_Ontology:HP:0007090,Human_Phenotype_Ontology:HP:0007128,MedGen:C0431368 1 1 1.0000 condition_record_support_limited 20 0 0 Partial_agenesis_of_the_corpus_callosum 125 compact_adjacent_exon_block_opportunity local_compact_architecture SHH mondo_mondo_0012709_medgen_c1968843_omim_611638_orphanet_98938 Microphthalmia, isolated, with coloboma 5 MONDO:MONDO:0012709,MedGen:C1968843,OMIM:611638,Orphanet:98938 1 1 1.0000 condition_record_support_limited 20 0 0 Microphthalmia,_isolated,_with_coloboma_5 125 compact_adjacent_exon_block_opportunity local_compact_architecture SHH mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 125 compact_adjacent_exon_block_opportunity local_compact_architecture SHH mondo_mondo_0013388_medgen_c3150987_omim_613721_orphanet_1934 Developmental and epileptic encephalopathy, 11 MONDO:MONDO:0013388,MedGen:C3150987,OMIM:613721,Orphanet:1934 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_11 125 compact_adjacent_exon_block_opportunity local_compact_architecture SHH human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 0 Autism 125 compact_adjacent_exon_block_opportunity local_compact_architecture SHARPIN mondo_mondo_1040029_medgen_cn378144 Sharpin-related autoinflammatory syndrome MONDO:MONDO:1040029,MedGen:CN378144 1 1 1.0000 condition_record_support_limited 20 0 0 Sharpin-related_autoinflammatory_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene SHANK2 shank2_related_disorder SHANK2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SHANK2-related_disorder 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SHANK2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SHANK2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SHANK1 shank1_related_disorder SHANK1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SHANK1-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene SHANK1 shank1_related_autism SHANK1-related autism . 1 1 1.0000 condition_record_support_limited 20 0 0 SHANK1-related_autism 19 low_record_burden_interpretation_limited low_record_burden_gene SHANK1 shank1_associated_disorder SHANK1-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SHANK1-associated_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene SHANK1 mondo_mondo_0100038_medgen_c5568766_orphanet_528084 Complex neurodevelopmental disorder MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 1 1 1.0000 condition_record_support_limited 20 0 0 Complex_neurodevelopmental_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene SH3TC2 human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 1.0000 condition_record_support_limited 20 0 1 Tip-toe_gait 162 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SH3TC2 human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Peripheral neuropathy Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 1.0000 condition_record_support_limited 20 0 0 Peripheral_neuropathy 162 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SH3TC2 mondo_mondo_0018894_medgen_c0393541_orphanet_53739 Distal spinal muscular atrophy MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_spinal_muscular_atrophy 162 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SH3TC2 mondo_mondo_0019011_medgen_c0751036_orphanet_65753 Charcot-Marie-Tooth disease, type I MONDO:MONDO:0019011,MedGen:C0751036,Orphanet:65753 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease,_type_I 162 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SH3PXD2B sh3pxd2b_related_disorder SH3PXD2B-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SH3PXD2B-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene SH3PXD2B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 16 low_record_burden_interpretation_limited low_record_burden_gene SH3BGRL2 mondo_mondo_0011473_medgen_c1858301_omim_604537_orphanet_65 Leber congenital amaurosis 5 MONDO:MONDO:0011473,MedGen:C1858301,OMIM:604537,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 0 Leber_congenital_amaurosis_5 1 low_record_burden_interpretation_limited low_record_burden_gene SH2D7 mondo_mondo_0012273_medgen_c1836199_omim_609439_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 48 MONDO:MONDO:0012273,MedGen:C1836199,OMIM:609439,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_nonsyndromic_hearing_loss_48 1 low_record_burden_interpretation_limited low_record_burden_gene SH2D1A lymphoproliferative_syndrome_with_absent_sap_expression Lymphoproliferative syndrome with absent SAP expression . 1 1 1.0000 condition_record_support_limited 20 0 0 Lymphoproliferative_syndrome_with_absent_SAP_expression 43 compact_adjacent_exon_block_opportunity local_compact_architecture SH2D1A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 43 compact_adjacent_exon_block_opportunity local_compact_architecture SH2B3 mondo_mondo_0007572_medgen_c4551637_omim_133100_orphanet_90042 Primary familial polycythemia due to EPO receptor mutation MONDO:MONDO:0007572,MedGen:C4551637,OMIM:133100,Orphanet:90042 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_familial_polycythemia_due_to_EPO_receptor_mutation 5 low_record_burden_interpretation_limited low_record_burden_gene SH2B3 human_phenotype_ontology_hp_0012209_mondo_mondo_0011908_medgen_c0349639_omim_607785_orphanet_86834 Juvenile myelomonocytic leukemia Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834 1 1 1.0000 condition_record_support_limited 20 0 0 Juvenile_myelomonocytic_leukemia 5 low_record_burden_interpretation_limited low_record_burden_gene SH2B3 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_cancer-predisposing_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene SGSM3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene SGSM3 sgsm3_related_intellectual_disability SGSM3-related intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 1 SGSM3-related_intellectual_disability 2 low_record_burden_interpretation_limited low_record_burden_gene SGSH human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 210 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGSH human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 210 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGSH human_phenotype_ontology_hp_0004366_human_phenotype_ontology_hp_0011013_medgen_c5139058 Abnormal circulating carbohydrate concentration Human_Phenotype_Ontology:HP:0004366,Human_Phenotype_Ontology:HP:0011013,MedGen:C5139058 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_circulating_carbohydrate_concentration 210 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGPL1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGO2 mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 1 low_record_burden_interpretation_limited low_record_burden_gene SGO1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene SGO1 sgo1_related_disorder SGO1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SGO1-related_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene SGO1 mondo_mondo_0014528_medgen_c4015474_omim_616201_orphanet_435988 Chronic atrial and intestinal dysrhythmia MONDO:MONDO:0014528,MedGen:C4015474,OMIM:616201,Orphanet:435988 1 1 1.0000 condition_record_support_limited 20 0 1 Chronic_atrial_and_intestinal_dysrhythmia 1 low_record_burden_interpretation_limited low_record_burden_gene SGO1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 1 low_record_burden_interpretation_limited low_record_burden_gene SGMS2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 4 low_record_burden_interpretation_limited low_record_burden_gene SGMS2 mondo_mondo_0007470_medgen_c1852022_omim_126550_orphanet_85192 Calvarial doughnut lesions-bone fragility syndrome MONDO:MONDO:0007470,MedGen:C1852022,OMIM:126550,Orphanet:85192 1 1 1.0000 condition_record_support_limited 20 0 1 Calvarial_doughnut_lesions-bone_fragility_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene SGMS2 calvarial_doughnut_lesions_with_bone_fragility_with_or_without_spondylometaphyseal_dysplasia Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MedGen:CN301226 1 1 1.0000 condition_record_support_limited 20 0 1 Calvarial_doughnut_lesions_with_bone_fragility_with_or_without_spondylometaphyseal_dysplasia 4 low_record_burden_interpretation_limited low_record_burden_gene SGK2 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 1 low_record_burden_interpretation_limited low_record_burden_gene SGK1 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 1 low_record_burden_interpretation_limited low_record_burden_gene SGCG sgcg_related_disorder SGCG-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SGCG-related_disorder 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCG sgcg_related_congenital_myopathy SGCG-related congenital myopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 SGCG-related_congenital_myopathy 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCG mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCG human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCE mondo_mondo_0000903_medgen_cn295306_orphanet_36899 Myoclonus-dystonia syndrome MONDO:MONDO:0000903,MedGen:CN295306,Orphanet:36899 1 1 1.0000 condition_record_support_limited 20 0 1 Myoclonus-dystonia_syndrome 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCD efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_dilated_cardiomyopathy 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCD human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Muscular dystrophy Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 1 1 1.0000 condition_record_support_limited 20 0 0 Muscular_dystrophy 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCB mondo_mondo_0017734_medgen_c0268226_orphanet_309294 Sialidosis MONDO:MONDO:0017734,MedGen:C0268226,Orphanet:309294 1 1 1.0000 condition_record_support_limited 20 0 1 Sialidosis 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCB efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCB limb_girdle_muscular_dystrophy_recessive Limb-girdle muscular dystrophy, recessive MedGen:CN239352 1 1 1.0000 condition_record_support_limited 20 0 1 Limb-girdle_muscular_dystrophy,_recessive 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCB human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Limb-girdle muscular dystrophy Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 1.0000 condition_record_support_limited 20 0 1 Limb-girdle_muscular_dystrophy 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCA human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Limb-girdle muscular dystrophy Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 1.0000 condition_record_support_limited 20 0 1 Limb-girdle_muscular_dystrophy 186 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SGCA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 186 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SFXN4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 14 low_record_burden_interpretation_limited low_record_burden_gene SFTPC human_phenotype_ontology_hp_0002206_human_phenotype_ontology_hp_0006523_mondo_mondo_0002771_medgen_c0034069 Pulmonary fibrosis Human_Phenotype_Ontology:HP:0002206,Human_Phenotype_Ontology:HP:0006523,MONDO:MONDO:0002771,MedGen:C0034069 1 1 1.0000 condition_record_support_limited 20 0 1 Pulmonary_fibrosis 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SFTPC mondo_mondo_0800497_medgen_c5561926_omim_178500_orphanet_2032_orphanet_79126 Interstitial lung disease 2 MONDO:MONDO:0800497,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126 1 1 1.0000 condition_record_support_limited 20 0 0 Interstitial_lung_disease_2 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SFTPC mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SFTPA2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene SFTPA2 human_phenotype_ontology_hp_0002206_human_phenotype_ontology_hp_0006523_mondo_mondo_0002771_medgen_c0034069 Pulmonary fibrosis Human_Phenotype_Ontology:HP:0002206,Human_Phenotype_Ontology:HP:0006523,MONDO:MONDO:0002771,MedGen:C0034069 1 1 1.0000 condition_record_support_limited 20 0 1 Pulmonary_fibrosis 5 low_record_burden_interpretation_limited low_record_burden_gene SF3B4 sf3b4_related_disorder SF3B4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SF3B4-related_disorder 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SF3B4 medgen_c0236038 Hereditary hearing loss and deafness MedGen:C0236038 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_hearing_loss_and_deafness 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SF3B2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene SF3B1 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 4 low_record_burden_interpretation_limited low_record_burden_gene SF3B1 myelodysplastic_syndrome_progressed_to_acute_myeloid_leukemia Myelodysplastic syndrome progressed to acute myeloid leukemia . 1 1 1.0000 condition_record_support_limited 20 0 1 Myelodysplastic_syndrome_progressed_to_acute_myeloid_leukemia 4 low_record_burden_interpretation_limited low_record_burden_gene SF3B1 human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Acute myeloid leukemia Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_myeloid_leukemia 4 low_record_burden_interpretation_limited low_record_burden_gene SF3A1 mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 Malignant lymphoma, large B-cell, diffuse MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 1 1 1.0000 condition_record_support_limited 20 0 0 Malignant_lymphoma,_large_B-cell,_diffuse 1 low_record_burden_interpretation_limited low_record_burden_gene SF1 sf1_related_neurodevelopmental_disorder SF1-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SF1-related_neurodevelopmental_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene SF1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene SEZ6L human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 0 Autism 1 low_record_burden_interpretation_limited low_record_burden_gene SEZ6 mondo_mondo_0957430_medgen_c0036346_orphanet_641496 Childhood-onset schizophrenia MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 1.0000 condition_record_support_limited 20 0 0 Childhood-onset_schizophrenia 1 low_record_burden_interpretation_limited low_record_burden_gene SETX human_phenotype_ontology_hp_0001350_medgen_c0234518 Slurred speech Human_Phenotype_Ontology:HP:0001350,MedGen:C0234518 1 1 1.0000 condition_record_support_limited 20 0 1 Slurred_speech 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETX slightly_reduced_reflexes Slightly reduced reflexes . 1 1 1.0000 condition_record_support_limited 20 0 1 Slightly_reduced_reflexes 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETX human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 1.0000 condition_record_support_limited 20 0 1 Nystagmus 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETX human_phenotype_ontology_hp_0001310_medgen_c0234162 Dysmetria Human_Phenotype_Ontology:HP:0001310,MedGen:C0234162 1 1 1.0000 condition_record_support_limited 20 0 1 Dysmetria 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETX human_phenotype_ontology_hp_0002075_human_phenotype_ontology_hp_0002426_medgen_c0234979 Dysdiadochokinesis Human_Phenotype_Ontology:HP:0002075,Human_Phenotype_Ontology:HP:0002426,MedGen:C0234979 1 1 1.0000 condition_record_support_limited 20 0 1 Dysdiadochokinesis 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETX human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_palsy 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETX human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Cerebellar atrophy Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_atrophy 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETX mondo_mondo_0008842_medgen_c1859598_omim_208920_orphanet_1168 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920,Orphanet:1168 1 1 1.0000 condition_record_support_limited 20 0 0 Ataxia,_early-onset,_with_oculomotor_apraxia_and_hypoalbuminemia 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETX human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Amyotrophic lateral sclerosis Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 1 1 1.0000 condition_record_support_limited 20 0 1 Amyotrophic_lateral_sclerosis 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETX human_phenotype_ontology_hp_0011442_medgen_c4023354 Abnormal central motor function Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_central_motor_function 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETSIP mondo_mondo_0020847_medgen_c4748195_omim_618106 Intellectual disability, autosomal dominant 58 MONDO:MONDO:0020847,MedGen:C4748195,OMIM:618106 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_autosomal_dominant_58 1 low_record_burden_interpretation_limited low_record_burden_gene SETD6 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene SETD6 mondo_mondo_0033618_medgen_c5436647_omim_619033 Vissers-Bodmer syndrome MONDO:MONDO:0033618,MedGen:C5436647,OMIM:619033 1 1 1.0000 condition_record_support_limited 20 0 0 Vissers-Bodmer_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene SETD5 human_phenotype_ontology_hp_0002126_mondo_mondo_0000087_medgen_c0266464_orphanet_35981 Polymicrogyria Human_Phenotype_Ontology:HP:0002126,MONDO:MONDO:0000087,MedGen:C0266464,Orphanet:35981 1 1 1.0000 condition_record_support_limited 20 0 0 Polymicrogyria 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD5 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD5 human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 1.0000 condition_record_support_limited 20 0 1 Heart,_malformation_of 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD5 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD5 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD5 cornelia_de_lange_like_syndrome Cornelia de Lange-like syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 Cornelia_de_Lange-like_syndrome 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD5 human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Cleft palate Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 1.0000 condition_record_support_limited 20 0 1 Cleft_palate 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD5 human_phenotype_ontology_hp_0410030_mondo_mondo_0004747_medgen_c4321245 Cleft lip Human_Phenotype_Ontology:HP:0410030,MONDO:MONDO:0004747,MedGen:C4321245 1 1 1.0000 condition_record_support_limited 20 0 1 Cleft_lip 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD5 chromatinopathy Chromatinopathy . 1 1 1.0000 condition_record_support_limited 20 0 0 Chromatinopathy 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD5 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETD2 human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Ventriculomegaly Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 1 1 1.0000 condition_record_support_limited 20 0 1 Ventriculomegaly 68 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD2 setd2_associated_neurodevelopmental_disorder_with_multiple_congenital_anomalies SETD2 associated neurodevelopmental disorder with multiple congenital anomalies . 1 1 1.0000 condition_record_support_limited 20 0 1 SETD2_associated_neurodevelopmental_disorder_with_multiple_congenital_anomalies 68 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD2 mondo_mondo_0859331_medgen_c5774269_omim_620155 Rabin-Pappas syndrome MONDO:MONDO:0859331,MedGen:C5774269,OMIM:620155 1 1 1.0000 condition_record_support_limited 20 0 1 Rabin-Pappas_syndrome 68 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 68 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD2 mondo_mondo_0859333_medgen_c5774271_omim_620157 Intellectual developmental disorder, autosomal dominant 70 MONDO:MONDO:0859333,MedGen:C5774271,OMIM:620157 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_developmental_disorder,_autosomal_dominant_70 68 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD2 genetic_syndrome_with_a_dandy_walker_malformation_as_major_feature Genetic syndrome with a Dandy-Walker malformation as major feature . 1 1 1.0000 condition_record_support_limited 20 0 1 Genetic_syndrome_with_a_Dandy-Walker_malformation_as_major_feature 68 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD2 mondo_mondo_0009072_mesh_d003616_medgen_c0010964_omim_220200_orphanet_217 Dandy-Walker syndrome MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217 1 1 1.0000 condition_record_support_limited 20 0 1 Dandy-Walker_syndrome 68 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD2 human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Corpus callosum, agenesis of Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 1.0000 condition_record_support_limited 20 0 1 Corpus_callosum,_agenesis_of 68 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD2 mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cerebellar_hypoplasia 68 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD2 human_phenotype_ontology_hp_0001320_medgen_c1840379 Cerebellar vermis hypoplasia Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_vermis_hypoplasia 68 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD2 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 68 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD1B setd1b_associated_disorder SETD1B-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SETD1B-associated_disorder 95 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD1B human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 95 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD1B mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 0 Epilepsy 95 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD1B medgen_c0424605 Developmental delay MedGen:C0424605 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_delay 95 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD1A mondo_mondo_0060596_medgen_c4540327_omim_617755_orphanet_686482 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies MONDO:MONDO:0060596,MedGen:C4540327,OMIM:617755,Orphanet:686482 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_dysmorphic_facies_and_distal_limb_anomalies 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD1A mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD1A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETD1A mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SETBP1 human_phenotype_ontology_hp_0009792_mondo_mondo_0002601_medgen_c0039538 Teratoma Human_Phenotype_Ontology:HP:0009792,MONDO:MONDO:0002601,MedGen:C0039538 1 1 1.0000 condition_record_support_limited 20 0 1 Teratoma 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETBP1 human_phenotype_ontology_hp_0003244_medgen_c1691215 Penile hypospadias Human_Phenotype_Ontology:HP:0003244,MedGen:C1691215 1 1 1.0000 condition_record_support_limited 20 0 1 Penile_hypospadias 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETBP1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETBP1 human_phenotype_ontology_hp_0011800_human_phenotype_ontology_hp_0040199_medgen_c1853242 Midface retrusion Human_Phenotype_Ontology:HP:0011800,Human_Phenotype_Ontology:HP:0040199,MedGen:C1853242 1 1 1.0000 condition_record_support_limited 20 0 1 Midface_retrusion 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETBP1 human_phenotype_ontology_hp_0002665_mondo_mondo_0005062_mesh_d008223_medgen_c0024299_orphanet_223735 Lymphoma Human_Phenotype_Ontology:HP:0002665,MONDO:MONDO:0005062,MeSH:D008223,MedGen:C0024299,Orphanet:223735 1 1 1.0000 condition_record_support_limited 20 0 0 Lymphoma 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETBP1 human_phenotype_ontology_hp_0000239_human_phenotype_ontology_hp_0004473_medgen_c0456132 Large fontanelles Human_Phenotype_Ontology:HP:0000239,Human_Phenotype_Ontology:HP:0004473,MedGen:C0456132 1 1 1.0000 condition_record_support_limited 20 0 1 Large_fontanelles 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETBP1 human_phenotype_ontology_hp_0000126_mondo_mondo_0005510_medgen_c0020295 Hydronephrosis Human_Phenotype_Ontology:HP:0000126,MONDO:MONDO:0005510,MedGen:C0020295 1 1 1.0000 condition_record_support_limited 20 0 1 Hydronephrosis 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETBP1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_akinesia_deformation_sequence_1 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETBP1 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_disorder 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETBP1 human_phenotype_ontology_hp_0002059_human_phenotype_ontology_hp_0002422_human_phenotype_ontology_hp_0006890_medgen_c0235946 Cerebral atrophy Human_Phenotype_Ontology:HP:0002059,Human_Phenotype_Ontology:HP:0002422,Human_Phenotype_Ontology:HP:0006890,MedGen:C0235946 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_atrophy 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETBP1 human_phenotype_ontology_hp_0001630_human_phenotype_ontology_hp_0001631_mondo_mondo_0006664_medgen_c0018817_omim_ps108800_orphanet_1478 Atrial septal defect Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478 1 1 1.0000 condition_record_support_limited 20 0 1 Atrial_septal_defect 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETBP1 human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis_multiplex_congenita 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETBP1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SETBP1 human_phenotype_ontology_hp_0001597_medgen_c0853087 Abnormal nail morphology Human_Phenotype_Ontology:HP:0001597,MedGen:C0853087 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_nail_morphology 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SET set_related_disorder SET-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SET-related_disorder 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SET human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SET human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINI1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 6 low_record_burden_interpretation_limited low_record_burden_gene SERPINH1 human_phenotype_ontology_hp_6000310_mondo_mondo_0012511_medgen_c0729264_omim_610504 Preterm premature rupture of membranes Human_Phenotype_Ontology:HP:6000310,MONDO:MONDO:0012511,MedGen:C0729264,OMIM:610504 1 1 1.0000 condition_record_support_limited 20 0 0 Preterm_premature_rupture_of_membranes 13 low_record_burden_interpretation_limited low_record_burden_gene SERPINF2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene SERPINF2 human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_bleeding 5 low_record_burden_interpretation_limited low_record_burden_gene SERPINF1 serpinf1_related_disorder SERPINF1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SERPINF1-related_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINF1 human_phenotype_ontology_hp_0000924_medgen_c4021790 Abnormality of the skeletal system Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_skeletal_system 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINE1 mondo_mondo_0013227_medgen_c2750067_omim_613329_orphanet_465 Congenital plasminogen activator inhibitor type 1 deficiency MONDO:MONDO:0013227,MedGen:C2750067,OMIM:613329,Orphanet:465 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_plasminogen_activator_inhibitor_type_1_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene SERPINE1 human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_bleeding 2 low_record_burden_interpretation_limited low_record_burden_gene SERPIND1 mesh_d006470_medgen_c0019080 Hemorrhage MeSH:D006470,MedGen:C0019080 1 1 1.0000 condition_record_support_limited 20 0 0 Hemorrhage 4 low_record_burden_interpretation_limited low_record_burden_gene SERPINC1 human_phenotype_ontology_hp_0001907_medgen_c0040038 Thromboembolism Human_Phenotype_Ontology:HP:0001907,MedGen:C0040038 1 1 1.0000 condition_record_support_limited 20 0 1 Thromboembolism 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINC1 human_phenotype_ontology_hp_0000588_human_phenotype_ontology_hp_0007997_mondo_mondo_0007354_medgen_c0155299_omim_120430_orphanet_35737_orphanet_98947 Coloboma of optic nerve Human_Phenotype_Ontology:HP:0000588,Human_Phenotype_Ontology:HP:0007997,MONDO:MONDO:0007354,MedGen:C0155299,OMIM:120430,Orphanet:35737,Orphanet:98947 1 1 1.0000 condition_record_support_limited 20 0 1 Coloboma_of_optic_nerve 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINC1 human_phenotype_ontology_hp_0001977_medgen_c4025731 Abnormal thrombosis Human_Phenotype_Ontology:HP:0001977,MedGen:C4025731 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_thrombosis 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINB7 palmoplantar_keratodermas Palmoplantar keratodermas . 1 1 1.0000 condition_record_support_limited 20 0 1 Palmoplantar_keratodermas 10 low_record_burden_interpretation_limited low_record_burden_gene SERPINB6 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_deafness 4 low_record_burden_interpretation_limited low_record_burden_gene SERPINA7 thyroxine_binding_globulin_slow Thyroxine-binding globulin, slow . 1 1 1.0000 condition_record_support_limited 20 0 0 Thyroxine-binding_globulin,_slow 5 low_record_burden_interpretation_limited low_record_burden_gene SERPINA7 thyroxine_binding_globulin_chicago Thyroxine-binding globulin, Chicago . 1 1 1.0000 condition_record_support_limited 20 0 0 Thyroxine-binding_globulin,_Chicago 5 low_record_burden_interpretation_limited low_record_burden_gene SERPINA7 medgen_c4310821_omim_300932 Thyroxine-binding globulin quantitative trait locus MedGen:C4310821,OMIM:300932 1 1 1.0000 condition_record_support_limited 20 0 0 Thyroxine-binding_globulin_quantitative_trait_locus 5 low_record_burden_interpretation_limited low_record_burden_gene SERPINA7 medgen_c0271836 Thyroxine-binding globulin deficiency, partial MedGen:C0271836 1 1 1.0000 condition_record_support_limited 20 0 0 Thyroxine-binding_globulin_deficiency,_partial 5 low_record_burden_interpretation_limited low_record_burden_gene SERPINA7 medgen_c1839141 Thyroxine-binding globulin deficiency MedGen:C1839141 1 1 1.0000 condition_record_support_limited 20 0 0 Thyroxine-binding_globulin_deficiency 5 low_record_burden_interpretation_limited low_record_burden_gene SERPINA3 antichymotrypsin_bochum_1 ANTICHYMOTRYPSIN BOCHUM 1 . 1 1 1.0000 condition_record_support_limited 20 0 0 ANTICHYMOTRYPSIN_BOCHUM_1 1 low_record_burden_interpretation_limited low_record_burden_gene SERPINA12 mondo_mondo_0009489_medgen_cn031296 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type MONDO:MONDO:0009489,MedGen:CN031296 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_palmoplantar_keratoderma,_Gamborg-Nielsen_type 1 low_record_burden_interpretation_limited low_record_burden_gene SERPINA11 human_phenotype_ontology_hp_0002202_medgen_c0032227 Pleural effusion Human_Phenotype_Ontology:HP:0002202,MedGen:C0032227 1 1 1.0000 condition_record_support_limited 20 0 1 Pleural_effusion 1 low_record_burden_interpretation_limited low_record_burden_gene SERPINA11 human_phenotype_ontology_hp_0001698_mondo_mondo_0001370_medgen_c0031039 Pericardial effusion Human_Phenotype_Ontology:HP:0001698,MONDO:MONDO:0001370,MedGen:C0031039 1 1 1.0000 condition_record_support_limited 20 0 1 Pericardial_effusion 1 low_record_burden_interpretation_limited low_record_burden_gene SERPINA1 susceptibility_to_severe_coronavirus_disease_covid_19 Susceptibility to severe coronavirus disease (COVID-19) . 1 1 1.0000 condition_record_support_limited 20 0 1 Susceptibility_to_severe_coronavirus_disease_(COVID-19) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pneumothorax_familial Pneumothorax - familial . 1 1 1.0000 condition_record_support_limited 20 0 0 Pneumothorax_-_familial 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_s_iiyama PI S(IIYAMA) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_S(IIYAMA) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_s PI S . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_S 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_q0_newport PI Q0(NEWPORT) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_Q0(NEWPORT) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_q0_ludwigshafen PI Q0(LUDWIGSHAFEN) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_Q0(LUDWIGSHAFEN) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_q0_hong_kong_1 PI Q0(HONG KONG 1) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_Q0(HONG_KONG_1) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_q0_granite_falls PI Q0(GRANITE FALLS) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_Q0(GRANITE_FALLS) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_q0_devon PI Q0(DEVON) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_Q0(DEVON) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_q0_cardiff PI Q0(CARDIFF) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_Q0(CARDIFF) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_q0_bolton PI Q0(BOLTON) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_Q0(BOLTON) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_q0_bellingham PI Q0(BELLINGHAM) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_Q0(BELLINGHAM) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_p_lowell PI P(LOWELL) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_P(LOWELL) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_p_duarte PI P(DUARTE) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_P(DUARTE) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_null_west PI NULL(WEST) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_NULL(WEST) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_null_newport PI NULL(NEWPORT) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_NULL(NEWPORT) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_null_ludwigshafen PI NULL(LUDWIGSHAFEN) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_NULL(LUDWIGSHAFEN) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_null_hong_kong_1 PI NULL(HONG KONG 1) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_NULL(HONG_KONG_1) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_null_devon PI NULL(DEVON) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_NULL(DEVON) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_null_cardiff PI NULL(CARDIFF) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_NULL(CARDIFF) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_null_bolton PI NULL(BOLTON) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_NULL(BOLTON) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_null_bellingham PI NULL(BELLINGHAM) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_NULL(BELLINGHAM) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_m_procida PI M(PROCIDA) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_M(PROCIDA) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_m_mineral_springs PI M(MINERAL SPRINGS) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_M(MINERAL_SPRINGS) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_m_malton PI M(MALTON) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_M(MALTON) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_m_heerlen PI M(HEERLEN) . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_M(HEERLEN) 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 pi_i PI I . 1 1 1.0000 condition_record_support_limited 20 0 1 PI_I 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 mondo_mondo_0032625_medgen_c4748792_omim_618242 Mitochondrial complex I deficiency, nuclear type 21 MONDO:MONDO:0032625,MedGen:C4748792,OMIM:618242 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency,_nuclear_type_21 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 mondo_mondo_0015801_medgen_c5190706_orphanet_178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation MONDO:MONDO:0015801,MedGen:C5190706,Orphanet:178396 1 1 1.0000 condition_record_support_limited 20 0 1 Hemorrhagic_disease_due_to_alpha-1-antitrypsin_Pittsburgh_mutation 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 mondo_mondo_0009061_medgen_c0010674_omim_219700_orphanet_586 Cystic fibrosis MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586 1 1 1.0000 condition_record_support_limited 20 0 1 Cystic_fibrosis 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 human_phenotype_ontology_hp_0006510_mondo_mondo_0005002_medgen_c0024117_omim_606963 Chronic obstructive pulmonary disease Human_Phenotype_Ontology:HP:0006510,MONDO:MONDO:0005002,MedGen:C0024117,OMIM:606963 1 1 1.0000 condition_record_support_limited 20 0 1 Chronic_obstructive_pulmonary_disease 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERPINA1 autosomal_recessive_serpina1_related_disorders Autosomal recessive SERPINA1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_SERPINA1-related_disorders 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERAC1 mondo_mondo_0100548_medgen_cn377038 SERAC1-related neurological disorder MONDO:MONDO:0100548,MedGen:CN377038 1 1 1.0000 condition_record_support_limited 20 0 0 SERAC1-related_neurological_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SERAC1 mondo_mondo_0016387_medgen_c5679825_orphanet_223713 Mitochondrial oxidative phosphorylation disorder MONDO:MONDO:0016387,MedGen:C5679825,Orphanet:223713 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_oxidative_phosphorylation_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEPTIN9 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene SEPTIN9 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 3 low_record_burden_interpretation_limited low_record_burden_gene SEPSECS human_phenotype_ontology_hp_0003306_medgen_c1858025 Spinal rigidity Human_Phenotype_Ontology:HP:0003306,MedGen:C1858025 1 1 1.0000 condition_record_support_limited 20 0 1 Spinal_rigidity 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEPSECS human_phenotype_ontology_hp_0001264_medgen_c0023882 Spastic diplegia Human_Phenotype_Ontology:HP:0001264,MedGen:C0023882 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_diplegia 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEPSECS human_phenotype_ontology_hp_0011344_medgen_c1837397 Severe global developmental delay Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_global_developmental_delay 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEPSECS human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEPSECS medgen_c3509787 Progressive limb weakness MedGen:C3509787 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_limb_weakness 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEPSECS human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEPSECS human_phenotype_ontology_hp_0002180_mondo_mondo_0005559_medgen_c0027746 Neurodegeneration Human_Phenotype_Ontology:HP:0002180,MONDO:MONDO:0005559,MedGen:C0027746 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodegeneration 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEPSECS human_phenotype_ontology_hp_0002769_human_phenotype_ontology_hp_0002808_human_phenotype_ontology_hp_0003314_medgen_c0022821 Kyphosis Human_Phenotype_Ontology:HP:0002769,Human_Phenotype_Ontology:HP:0002808,Human_Phenotype_Ontology:HP:0003314,MedGen:C0022821 1 1 1.0000 condition_record_support_limited 20 0 1 Kyphosis 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEPSECS medgen_c1321325 Elliptical nystagmus MedGen:C1321325 1 1 1.0000 condition_record_support_limited 20 0 1 Elliptical_nystagmus 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEPSECS human_phenotype_ontology_hp_0001260_human_phenotype_ontology_hp_0002327_medgen_c0013362 Dysarthria Human_Phenotype_Ontology:HP:0001260,Human_Phenotype_Ontology:HP:0002327,MedGen:C0013362 1 1 1.0000 condition_record_support_limited 20 0 1 Dysarthria 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEPSECS mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cerebellar_hypoplasia 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEPSECS human_phenotype_ontology_hp_0006872_medgen_c1855330 Cerebral hypoplasia Human_Phenotype_Ontology:HP:0006872,MedGen:C1855330 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_hypoplasia 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEPSECS mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEPSECS human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis_multiplex_congenita 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEPHS1 sephs1_related_disorder SEPHS1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SEPHS1-related_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene SENP7 arthrogryposis_multiplex_congenita_with_neutropenia_and_early_respiratory_failure arthrogryposis multiplex congenita with neutropenia and early respiratory failure . 1 1 1.0000 condition_record_support_limited 20 0 0 arthrogryposis_multiplex_congenita_with_neutropenia_and_early_respiratory_failure 3 low_record_burden_interpretation_limited low_record_burden_gene SENP7 senp7_associated_disorder SENP7-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SENP7-associated_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene SENP7 arthrogryposis_multiplex_congenita_and_immunodeficiency Arthrogryposis Multiplex Congenita and Immunodeficiency . 1 1 1.0000 condition_record_support_limited 20 0 0 Arthrogryposis_Multiplex_Congenita_and_Immunodeficiency 3 low_record_burden_interpretation_limited low_record_burden_gene SEMA7A mondo_mondo_0030815_medgen_c5676985_omim_619874 Cholestasis, progressive familial intrahepatic, 11 MONDO:MONDO:0030815,MedGen:C5676985,OMIM:619874 1 1 1.0000 condition_record_support_limited 20 0 0 Cholestasis,_progressive_familial_intrahepatic,_11 1 low_record_burden_interpretation_limited low_record_burden_gene SEMA6B human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEMA6B human_phenotype_ontology_hp_0011170_mondo_mondo_0014633_medgen_c0393702_omim_616421_orphanet_1942 Epilepsy with myoclonic atonic seizures Human_Phenotype_Ontology:HP:0011170,MONDO:MONDO:0014633,MedGen:C0393702,OMIM:616421,Orphanet:1942 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy_with_myoclonic_atonic_seizures 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEMA6A mondo_mondo_0859205_medgen_c2874202_omim_619613 Delayed puberty, self-limited MONDO:MONDO:0859205,MedGen:C2874202,OMIM:619613 1 1 1.0000 condition_record_support_limited 20 0 0 Delayed_puberty,_self-limited 1 low_record_burden_interpretation_limited low_record_burden_gene SEMA4A mondo_mondo_0012463_medgen_c1853214_omim_610282_orphanet_791 Retinitis pigmentosa 35 MONDO:MONDO:0012463,MedGen:C1853214,OMIM:610282,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa_35 4 low_record_burden_interpretation_limited low_record_burden_gene SEMA4A human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 4 low_record_burden_interpretation_limited low_record_burden_gene SEMA4A human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 4 low_record_burden_interpretation_limited low_record_burden_gene SEMA4A mondo_mondo_0007176_medgen_c1862382_omim_108985_orphanet_86813 Helicoid peripapillary chorioretinal degeneration MONDO:MONDO:0007176,MedGen:C1862382,OMIM:108985,Orphanet:86813 1 1 1.0000 condition_record_support_limited 20 0 0 Helicoid_peripapillary_chorioretinal_degeneration 4 low_record_burden_interpretation_limited low_record_burden_gene SEMA4A mondo_mondo_0012464_medgen_c1846529_omim_610283_orphanet_1872 Cone-rod dystrophy 10 MONDO:MONDO:0012464,MedGen:C1846529,OMIM:610283,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy_10 4 low_record_burden_interpretation_limited low_record_burden_gene SEMA3E condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene SEMA3E mondo_mondo_0008965_medgen_c0265354_orphanet_138 CHARGE syndrome MONDO:MONDO:0008965,MedGen:C0265354,Orphanet:138 1 1 1.0000 condition_record_support_limited 20 0 1 CHARGE_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene SEMA3D sema3d_related_disorder SEMA3D-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SEMA3D-related_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene SEMA3D human_phenotype_ontology_hp_0000397_human_phenotype_ontology_hp_0000406_human_phenotype_ontology_hp_0000408_human_phenotype_ontology_hp_0008592_human_phenotype_ontology_hp_0008601_human_phenotype_ontology_hp_0008617_medgen_c1843156 Progressive sensorineural hearing impairment Human_Phenotype_Ontology:HP:0000397,Human_Phenotype_Ontology:HP:0000406,Human_Phenotype_Ontology:HP:0000408,Human_Phenotype_Ontology:HP:0008592,Human_Phenotype_Ontology:HP:0008601,Human_Phenotype_Ontology:HP:0008617,MedGen:C1843156 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_sensorineural_hearing_impairment 1 low_record_burden_interpretation_limited low_record_burden_gene SEMA3A condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene SEMA3A mondo_mondo_0013961_medgen_c3554021_omim_614897_orphanet_478 Hypogonadotropic hypogonadism 16 with or without anosmia MONDO:MONDO:0013961,MedGen:C3554021,OMIM:614897,Orphanet:478 1 1 1.0000 condition_record_support_limited 20 0 0 Hypogonadotropic_hypogonadism_16_with_or_without_anosmia 4 low_record_burden_interpretation_limited low_record_burden_gene SELP human_phenotype_ontology_hp_0005181_medgen_c1867743 Premature coronary artery atherosclerosis Human_Phenotype_Ontology:HP:0005181,MedGen:C1867743 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_coronary_artery_atherosclerosis 1 low_record_burden_interpretation_limited low_record_burden_gene SELENON selenon_related_disorder SELENON-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SELENON-related_disorder 112 compact_adjacent_exon_block_opportunity local_compact_architecture SELENON mondo_mondo_0016044_medgen_c0158646_orphanet_199306 Cleft lip/palate MONDO:MONDO:0016044,MedGen:C0158646,Orphanet:199306 1 1 1.0000 condition_record_support_limited 20 0 1 Cleft_lip/palate 112 compact_adjacent_exon_block_opportunity local_compact_architecture SELENON human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_musculature 112 compact_adjacent_exon_block_opportunity local_compact_architecture SEL1L mondo_mondo_0976131_medgen_c5975596_omim_621068 Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia MONDO:MONDO:0976131,MedGen:C5975596,OMIM:621068 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_hypotonia,_poor_growth,_dysmorphic_facies,_and_agammaglobulinemia 1 low_record_burden_interpretation_limited low_record_burden_gene SEC61A1 mondo_mondo_0958017_medgen_c5882742_omim_620674 Neutropenia, severe congenital, 11, autosomal dominant MONDO:MONDO:0958017,MedGen:C5882742,OMIM:620674 1 1 1.0000 condition_record_support_limited 20 0 0 Neutropenia,_severe_congenital,_11,_autosomal_dominant 9 low_record_burden_interpretation_limited low_record_burden_gene SEC61A1 human_phenotype_ontology_hp_0004313_human_phenotype_ontology_hp_0010703_medgen_c4048270 Decreased circulating immunoglobulin concentration Human_Phenotype_Ontology:HP:0004313,Human_Phenotype_Ontology:HP:0010703,MedGen:C4048270 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_circulating_immunoglobulin_concentration 9 low_record_burden_interpretation_limited low_record_burden_gene SEC31A mondo_mondo_0032849_medgen_c5231442_omim_618651 Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies MONDO:MONDO:0032849,MedGen:C5231442,OMIM:618651 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_spastic_quadriplegia,_optic_atrophy,_seizures,_and_structural_brain_anomalies 1 low_record_burden_interpretation_limited low_record_burden_gene SEC24D sec24d_related_disorder SEC24D-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SEC24D-related_disorder 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SEC24C mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy 1 low_record_burden_interpretation_limited low_record_burden_gene SEC23B susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDR9C7 ichthyosis_and_erythrokeratoderma Ichthyosis and erythrokeratoderma . 1 1 1.0000 condition_record_support_limited 20 0 1 Ichthyosis_and_erythrokeratoderma 6 low_record_burden_interpretation_limited low_record_burden_gene SDHD mondo_mondo_0007273_medgen_c1861848_omim_115310_orphanet_29072 Pheochromocytoma/paraganglioma syndrome 4 MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310,Orphanet:29072 1 1 1.0000 condition_record_support_limited 20 0 1 Pheochromocytoma/paraganglioma_syndrome_4 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHD human_phenotype_ontology_hp_0002668_human_phenotype_ontology_hp_0002670_human_phenotype_ontology_hp_0003004_mondo_mondo_0000448_medgen_c0030421_omim_ps168000 Paraganglioma Human_Phenotype_Ontology:HP:0002668,Human_Phenotype_Ontology:HP:0002670,Human_Phenotype_Ontology:HP:0003004,MONDO:MONDO:0000448,MedGen:C0030421,OMIM:PS168000 1 1 1.0000 condition_record_support_limited 20 0 1 Paraganglioma 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHD mondo_mondo_0100294_medgen_c5700310_omim_252011_orphanet_3208 Mitochondrial complex II deficiency, nuclear type 1 MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_II_deficiency,_nuclear_type_1 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHD medgen_c3532243 Fatal infantile mitochondrial cardiomyopathy MedGen:C3532243 1 1 1.0000 condition_record_support_limited 20 0 1 Fatal_infantile_mitochondrial_cardiomyopathy 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHC human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Rhabdomyosarcoma Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 1 1 1.0000 condition_record_support_limited 20 0 1 Rhabdomyosarcoma 96 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHB mondo_mondo_0008667_medgen_c0019562_omim_193300_orphanet_892 Von Hippel-Lindau syndrome MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892 1 1 1.0000 condition_record_support_limited 20 0 1 Von_Hippel-Lindau_syndrome 280 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SDHB human_phenotype_ontology_hp_0005933_human_phenotype_ontology_hp_0009726_mondo_mondo_0021163_medgen_c0022665 Renal neoplasm Human_Phenotype_Ontology:HP:0005933,Human_Phenotype_Ontology:HP:0009726,MONDO:MONDO:0021163,MedGen:C0022665 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_neoplasm 280 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SDHB human_phenotype_ontology_hp_0005584_human_phenotype_ontology_hp_0006720_mondo_mondo_0005086_mesh_d002292_medgen_c0007134_orphanet_217071 Renal cell carcinoma Human_Phenotype_Ontology:HP:0005584,Human_Phenotype_Ontology:HP:0006720,MONDO:MONDO:0005086,MeSH:D002292,MedGen:C0007134,Orphanet:217071 1 1 1.0000 condition_record_support_limited 20 0 0 Renal_cell_carcinoma 280 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SDHB paragangliome_pheochromocytome Paragangliome / Pheochromocytome . 1 1 1.0000 condition_record_support_limited 20 0 0 Paragangliome_/_Pheochromocytome 280 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SDHB inherited_renal_cancer Inherited renal cancer . 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_renal_cancer 280 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SDHB mondo_mondo_0011424_medgen_c1858592_omim_604287_orphanet_139411 Carney triad MONDO:MONDO:0011424,MedGen:C1858592,OMIM:604287,Orphanet:139411 1 1 1.0000 condition_record_support_limited 20 0 1 Carney_triad 280 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SDHAF2 sdhaf2_related_disorder SDHAF2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SDHAF2-related_disorder 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDHAF1 mondo_mondo_0100294_medgen_c5700310_omim_252011_orphanet_3208 Mitochondrial complex II deficiency, nuclear type 1 MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_II_deficiency,_nuclear_type_1 7 low_record_burden_interpretation_limited low_record_burden_gene SDHA human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Rhabdomyosarcoma Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 1 1 1.0000 condition_record_support_limited 20 0 1 Rhabdomyosarcoma 320 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SDHA mondo_mondo_0008192_medgen_c3494181_omim_168000_orphanet_29072 Pheochromocytoma/paraganglioma syndrome 1 MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000,Orphanet:29072 1 1 1.0000 condition_record_support_limited 20 0 1 Pheochromocytoma/paraganglioma_syndrome_1 320 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SDHA human_phenotype_ontology_hp_0002666_mondo_mondo_0008233_medgen_c0031511_omim_171300_orphanet_29072 Pheochromocytoma Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072 1 1 1.0000 condition_record_support_limited 20 0 1 Pheochromocytoma 320 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SDHA human_phenotype_ontology_hp_0002668_human_phenotype_ontology_hp_0002670_human_phenotype_ontology_hp_0003004_mondo_mondo_0000448_medgen_c0030421_omim_ps168000 Paraganglioma Human_Phenotype_Ontology:HP:0002668,Human_Phenotype_Ontology:HP:0002670,Human_Phenotype_Ontology:HP:0003004,MONDO:MONDO:0000448,MedGen:C0030421,OMIM:PS168000 1 1 1.0000 condition_record_support_limited 20 0 1 Paraganglioma 320 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SDHA mondo_mondo_0015247_medgen_c0393626_orphanet_1183 Opsoclonus-myoclonus syndrome MONDO:MONDO:0015247,MedGen:C0393626,Orphanet:1183 1 1 1.0000 condition_record_support_limited 20 0 1 Opsoclonus-myoclonus_syndrome 320 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SDHA mondo_mondo_1060171_medgen_c5669877 Diffuse midline glioma, H3 K27-altered MONDO:MONDO:1060171,MedGen:C5669877 1 1 1.0000 condition_record_support_limited 20 0 1 Diffuse_midline_glioma,_H3_K27-altered 320 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SDHA mondo_mondo_0011424_medgen_c1858592_omim_604287_orphanet_139411 Carney triad MONDO:MONDO:0011424,MedGen:C1858592,OMIM:604287,Orphanet:139411 1 1 1.0000 condition_record_support_limited 20 0 0 Carney_triad 320 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SDHA efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 Cardiac arrhythmia EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiac_arrhythmia 320 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control SDCCAG8 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDCCAG8 mondo_mondo_0017842_medgen_c0403553_omim_ps266900_orphanet_3156 Renal dysplasia and retinal aplasia MONDO:MONDO:0017842,MedGen:C0403553,OMIM:PS266900,Orphanet:3156 1 1 1.0000 condition_record_support_limited 20 0 0 Renal_dysplasia_and_retinal_aplasia 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDCCAG8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SDCCAG8 human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 1.0000 condition_record_support_limited 20 0 0 Focal_segmental_glomerulosclerosis 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCYL2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 9 low_record_burden_interpretation_limited low_record_burden_gene SCYL1 scyl1_related_disorder SCYL1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SCYL1-related_disorder 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCUBE3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene SCUBE2 human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Cerebral arteriovenous malformation Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_arteriovenous_malformation 1 low_record_burden_interpretation_limited low_record_burden_gene SCRIB human_phenotype_ontology_hp_0045005_mondo_mondo_0018075_medgen_c0027794_orphanet_3388_orphanet_823 Neural tube defect Human_Phenotype_Ontology:HP:0045005,MONDO:MONDO:0018075,MedGen:C0027794,Orphanet:3388,Orphanet:823 1 1 1.0000 condition_record_support_limited 20 0 0 Neural_tube_defect 1 low_record_burden_interpretation_limited low_record_burden_gene SCO2 human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 1.0000 condition_record_support_limited 20 0 1 Tip-toe_gait 110 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SCO2 tymp_related_disorder TYMP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TYMP-related_disorder 110 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SCO2 human_phenotype_ontology_hp_0011344_medgen_c1837397 Severe global developmental delay Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_global_developmental_delay 110 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SCO2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 110 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SCO2 efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 110 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SCO2 mondo_mondo_0016862_medgen_c1956125_omim_118450_orphanet_261619_orphanet_52 Alagille syndrome due to a JAG1 point mutation MONDO:MONDO:0016862,MedGen:C1956125,OMIM:118450,Orphanet:261619,Orphanet:52 1 1 1.0000 condition_record_support_limited 20 0 1 Alagille_syndrome_due_to_a_JAG1_point_mutation 110 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture SCNN1G scnn1g_related_disorder SCNN1G-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SCNN1G-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene SCNN1B renal_tubulopathies Renal tubulopathies . 1 1 1.0000 condition_record_support_limited 20 0 0 Renal_tubulopathies 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCNN1B mondo_mondo_0015247_medgen_c0393626_orphanet_1183 Opsoclonus-myoclonus syndrome MONDO:MONDO:0015247,MedGen:C0393626,Orphanet:1183 1 1 1.0000 condition_record_support_limited 20 0 0 Opsoclonus-myoclonus_syndrome 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCNN1A renal_tubulopathies Renal tubulopathies . 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_tubulopathies 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCNN1A human_phenotype_ontology_hp_0008228_human_phenotype_ontology_hp_0008242_mondo_mondo_0018638_medgen_c0033805_orphanet_444916 Pseudohypoaldosteronism Human_Phenotype_Ontology:HP:0008228,Human_Phenotype_Ontology:HP:0008242,MONDO:MONDO:0018638,MedGen:C0033805,Orphanet:444916 1 1 1.0000 condition_record_support_limited 20 0 1 Pseudohypoaldosteronism 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCNN1A human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCNN1A medgen_c1135954 Incidental Discovery MedGen:C1135954 1 1 1.0000 condition_record_support_limited 20 0 1 Incidental_Discovery 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCNN1A mondo_mondo_0018956_medgen_c0339985_orphanet_60033 Idiopathic bronchiectasis MONDO:MONDO:0018956,MedGen:C0339985,Orphanet:60033 1 1 1.0000 condition_record_support_limited 20 0 0 Idiopathic_bronchiectasis 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN9A scn9a_related_peripheral_neuropathies_associated_with_increased_pain SCN9A-related peripheral neuropathies associated with increased pain . 1 1 1.0000 condition_record_support_limited 20 0 1 SCN9A-related_peripheral_neuropathies_associated_with_increased_pain 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN9A scn9a_related_disorder SCN9A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SCN9A-related_disorder 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN9A human_phenotype_ontology_hp_0003404_human_phenotype_ontology_hp_0007021_medgen_c0344307 Pain insensitivity Human_Phenotype_Ontology:HP:0003404,Human_Phenotype_Ontology:HP:0007021,MedGen:C0344307 1 1 1.0000 condition_record_support_limited 20 0 1 Pain_insensitivity 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN9A human_phenotype_ontology_hp_0003489_medgen_c1867971 Acute episodes of neuropathic symptoms Human_Phenotype_Ontology:HP:0003489,MedGen:C1867971 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_episodes_of_neuropathic_symptoms 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN9A human_phenotype_ontology_hp_0010832_medgen_c4023691 Abnormality of pain sensation Human_Phenotype_Ontology:HP:0010832,MedGen:C4023691 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_pain_sensation 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A developmental_delay_with_seizures developmental delay with seizures . 1 1 1.0000 condition_record_support_limited 20 0 1 developmental_delay_with_seizures 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A mondo_mondo_0018097_medgen_c0037769_orphanet_3451_orphanet_697160 West syndrome MONDO:MONDO:0018097,MedGen:C0037769,Orphanet:3451,Orphanet:697160 1 1 1.0000 condition_record_support_limited 20 0 1 West_syndrome 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A mondo_mondo_0018614_medgen_c5680057_orphanet_442835 Undetermined early-onset epileptic encephalopathy MONDO:MONDO:0018614,MedGen:C5680057,Orphanet:442835 1 1 1.0000 condition_record_support_limited 20 0 1 Undetermined_early-onset_epileptic_encephalopathy 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A scn8a_related_neurodevelopmental_delay SCN8A-related neurodevelopmental delay . 1 1 1.0000 condition_record_support_limited 20 0 0 SCN8A-related_neurodevelopmental_delay 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A scn8a_related_epileptic_disorder SCN8A-related epileptic disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SCN8A-related_epileptic_disorder 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A mondo_mondo_0021024_medgen_c1970028_omim_611162_orphanet_673 Malaria, susceptibility to MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673 1 1 1.0000 condition_record_support_limited 20 0 1 Malaria,_susceptibility_to 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A human_phenotype_ontology_hp_0012469_medgen_c3887898 Infantile spasms Human_Phenotype_Ontology:HP:0012469,MedGen:C3887898 1 1 1.0000 condition_record_support_limited 20 0 1 Infantile_spasms 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A human_phenotype_ontology_hp_0002184_human_phenotype_ontology_hp_0010818_medgen_c1836508 Generalized tonic seizure Human_Phenotype_Ontology:HP:0002184,Human_Phenotype_Ontology:HP:0010818,MedGen:C1836508 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_tonic_seizure 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_akinesia_deformation_sequence_1 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A human_phenotype_ontology_hp_0006834_medgen_c1836829 Developmental stagnation at onset of seizures Human_Phenotype_Ontology:HP:0006834,MedGen:C1836829 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_stagnation_at_onset_of_seizures 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A human_phenotype_ontology_hp_0002376_human_phenotype_ontology_hp_0002471_human_phenotype_ontology_hp_0002489_human_phenotype_ontology_hp_0006797_human_phenotype_ontology_hp_0006828_human_phenotype_ontology_hp_0006854_human_phenotype_ontology_hp_0007037_human_phenotype_ontology_hp_0007242_human_phenotype_ontology_hp_0007247_medgen_c1836830 Developmental regression Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_regression 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A mondo_mondo_0010632_medgen_c3463992_omim_308350 Developmental and epileptic encephalopathy, 1 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_1 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN8A human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis_multiplex_congenita 362 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN7A condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene SCN5A efo_efo_0005306_human_phenotype_ontology_hp_0004756_mondo_mondo_0005477_medgen_c0042514 Ventricular tachycardia EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514 1 1 1.0000 condition_record_support_limited 20 0 0 Ventricular_tachycardia 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A efo_the_experimental_factor_ontology_efo_0004287_human_phenotype_ontology_hp_0001663_human_phenotype_ontology_hp_0005166_mondo_mondo_0000190_medgen_c0042510 Ventricular fibrillation EFO:_The_Experimental_Factor_Ontology:EFO_0004287,Human_Phenotype_Ontology:HP:0001663,Human_Phenotype_Ontology:HP:0005166,MONDO:MONDO:0000190,MedGen:C0042510 1 1 1.0000 condition_record_support_limited 20 0 1 Ventricular_fibrillation 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A human_phenotype_ontology_hp_0001279_medgen_c0039070 Syncope Human_Phenotype_Ontology:HP:0001279,MedGen:C0039070 1 1 1.0000 condition_record_support_limited 20 0 0 Syncope 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A human_phenotype_ontology_hp_0011704_mondo_mondo_0001823_medgen_c0037052 Sick sinus syndrome Human_Phenotype_Ontology:HP:0011704,MONDO:MONDO:0001823,MedGen:C0037052 1 1 1.0000 condition_record_support_limited 20 0 0 Sick_sinus_syndrome 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A efo_efo_0005303_mesh_d013398_medgen_c0038644_omim_272120 SUDDEN INFANT DEATH SYNDROME EFO:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120 1 1 1.0000 condition_record_support_limited 20 0 1 SUDDEN_INFANT_DEATH_SYNDROME 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 Primary familial hypertrophic cardiomyopathy MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_familial_hypertrophic_cardiomyopathy 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A medgen_c3276241 Long QT syndrome 3/6, digenic MedGen:C3276241 1 1 1.0000 condition_record_support_limited 20 0 1 Long_QT_syndrome_3/6,_digenic 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A human_phenotype_ontology_hp_0011664_medgen_c4021133 Left ventricular noncompaction cardiomyopathy Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 1 1 1.0000 condition_record_support_limited 20 0 0 Left_ventricular_noncompaction_cardiomyopathy 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A medgen_c1861983 HEART BLOCK, NONPROGRESSIVE MedGen:C1861983 1 1 1.0000 condition_record_support_limited 20 0 0 HEART_BLOCK,_NONPROGRESSIVE 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A mondo_mondo_0012061_medgen_c0340491_omim_ps608567_orphanet_166282 Familial sick sinus syndrome MONDO:MONDO:0012061,MedGen:C0340491,OMIM:PS608567,Orphanet:166282 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_sick_sinus_syndrome 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A human_phenotype_ontology_hp_0001695_mondo_mondo_0000745_medgen_c0018790 Cardiac arrest Human_Phenotype_Ontology:HP:0001695,MONDO:MONDO:0000745,MedGen:C0018790 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiac_arrest 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A medgen_c1861984 CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE MedGen:C1861984 1 1 1.0000 condition_record_support_limited 20 0 1 CARDIAC_CONDUCTION_DEFECT,_NONPROGRESSIVE 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A mondo_mondo_0011258_medgen_c1865143_omim_602588 Branchiootic syndrome 1 MONDO:MONDO:0011258,MedGen:C1865143,OMIM:602588 1 1 1.0000 condition_record_support_limited 20 0 0 Branchiootic_syndrome_1 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A efo_the_experimental_factor_ontology_efo_0005305_human_phenotype_ontology_hp_0001668_human_phenotype_ontology_hp_0001678_human_phenotype_ontology_hp_0005142_human_phenotype_ontology_hp_0006672_mondo_mondo_0000465_medgen_c0004245 Atrioventricular block EFO:_The_Experimental_Factor_Ontology:EFO_0005305,Human_Phenotype_Ontology:HP:0001668,Human_Phenotype_Ontology:HP:0001678,Human_Phenotype_Ontology:HP:0005142,Human_Phenotype_Ontology:HP:0006672,MONDO:MONDO:0000465,MedGen:C0004245 1 1 1.0000 condition_record_support_limited 20 0 1 Atrioventricular_block 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A efo_the_experimental_factor_ontology_efo_0000275_human_phenotype_ontology_hp_0001715_human_phenotype_ontology_hp_0005110_human_phenotype_ontology_hp_0005179_mondo_mondo_0004981_medgen_c0004238 Atrial fibrillation EFO:_The_Experimental_Factor_Ontology:EFO_0000275,Human_Phenotype_Ontology:HP:0001715,Human_Phenotype_Ontology:HP:0005110,Human_Phenotype_Ontology:HP:0005179,MONDO:MONDO:0004981,MedGen:C0004238 1 1 1.0000 condition_record_support_limited 20 0 1 Atrial_fibrillation 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A efo_efo_0000275_human_phenotype_ontology_hp_0001715_human_phenotype_ontology_hp_0005110_human_phenotype_ontology_hp_0005179_mondo_mondo_0004981_medgen_c0004238 Atrial fibrillation EFO:EFO_0000275,Human_Phenotype_Ontology:HP:0001715,Human_Phenotype_Ontology:HP:0005110,Human_Phenotype_Ontology:HP:0005179,MONDO:MONDO:0004981,MedGen:C0004238 1 1 1.0000 condition_record_support_limited 20 0 0 Atrial_fibrillation 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN5A medgen_c4016652 ATRIAL STANDSTILL 1, DIGENIC MedGen:C4016652 1 1 1.0000 condition_record_support_limited 20 0 1 ATRIAL_STANDSTILL_1,_DIGENIC 535 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A mondo_mondo_0019349_medgen_c0175695_omim_117550_orphanet_821 Sotos syndrome MONDO:MONDO:0019349,MedGen:C0175695,OMIM:117550,Orphanet:821 1 1 1.0000 condition_record_support_limited 20 0 1 Sotos_syndrome 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A mondo_mondo_0800468_medgen_cn375929 SCN4A-related channelopathy MONDO:MONDO:0800468,MedGen:CN375929 1 1 1.0000 condition_record_support_limited 20 0 1 SCN4A-related_channelopathy 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A human_phenotype_ontology_hp_0003201_medgen_c0035410 Rhabdomyolysis Human_Phenotype_Ontology:HP:0003201,MedGen:C0035410 1 1 1.0000 condition_record_support_limited 20 0 1 Rhabdomyolysis 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A medgen_c4016868 Paramyotonia congenita/myotonia congenita MedGen:C4016868 1 1 1.0000 condition_record_support_limited 20 0 1 Paramyotonia_congenita/myotonia_congenita 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A mondo_mondo_0020482_medgen_c5848361_orphanet_99735 Myotonia permanens MONDO:MONDO:0020482,MedGen:C5848361,Orphanet:99735 1 1 1.0000 condition_record_support_limited 20 0 1 Myotonia_permanens 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A medgen_c4016869 Myotonia congenita, atypical, acetazolamide-responsive MedGen:C4016869 1 1 1.0000 condition_record_support_limited 20 0 1 Myotonia_congenita,_atypical,_acetazolamide-responsive 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 1.0000 condition_record_support_limited 20 0 1 Myopathy 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A mondo_mondo_0019119_medgen_c5681306_orphanet_71864 Muscular channelopathy MONDO:MONDO:0019119,MedGen:C5681306,Orphanet:71864 1 1 1.0000 condition_record_support_limited 20 0 1 Muscular_channelopathy 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A mondo_mondo_0008223_medgen_c0238358_orphanet_681 Hypokalemic periodic paralysis MONDO:MONDO:0008223,MedGen:C0238358,Orphanet:681 1 1 1.0000 condition_record_support_limited 20 0 1 Hypokalemic_periodic_paralysis 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A human_phenotype_ontology_hp_0002358_human_phenotype_ontology_hp_0007359_medgen_c0751495 Focal-onset seizure Human_Phenotype_Ontology:HP:0002358,Human_Phenotype_Ontology:HP:0007359,MedGen:C0751495 1 1 1.0000 condition_record_support_limited 20 0 1 Focal-onset_seizure 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_akinesia_deformation_sequence_1 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Delayed gross motor development Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_gross_motor_development 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 Congenital myopathy MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myopathy 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 Congenital myasthenic syndrome MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myasthenic_syndrome 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis_multiplex_congenita 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN4A human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 165 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN3A atypical_cerebral_palsy atypical cerebral palsy . 1 1 1.0000 condition_record_support_limited 20 0 1 atypical_cerebral_palsy 36 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN3A human_phenotype_ontology_hp_0002126_mondo_mondo_0000087_medgen_c0266464_orphanet_35981 Polymicrogyria Human_Phenotype_Ontology:HP:0002126,MONDO:MONDO:0000087,MedGen:C0266464,Orphanet:35981 1 1 1.0000 condition_record_support_limited 20 0 1 Polymicrogyria 36 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN3A medgen_c0424605 Developmental delay MedGen:C0424605 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_delay 36 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN3A human_phenotype_ontology_hp_0032407_mondo_mondo_0020340_medgen_c1845668_orphanet_98889 Congenital bilateral perisylvian syndrome Human_Phenotype_Ontology:HP:0032407,MONDO:MONDO:0020340,MedGen:C1845668,Orphanet:98889 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_bilateral_perisylvian_syndrome 36 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A intellectual_deficiency intellectual deficiency MedGen:CN228659 1 1 1.0000 condition_record_support_limited 20 0 0 intellectual_deficiency 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A benign_sporadic_neonatal_infantile_epilepsy benign sporadic neonatal-infantile epilepsy . 1 1 1.0000 condition_record_support_limited 20 0 0 benign_sporadic_neonatal-infantile_epilepsy 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A human_phenotype_ontology_hp_0002321_medgen_c0042571 Vertigo Human_Phenotype_Ontology:HP:0002321,MedGen:C0042571 1 1 1.0000 condition_record_support_limited 20 0 1 Vertigo 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A mondo_mondo_0007295_medgen_c0376532_orphanet_1945 Self-limited epilepsy with centrotemporal spikes MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 1 1 1.0000 condition_record_support_limited 20 0 0 Self-limited_epilepsy_with_centrotemporal_spikes 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A mondo_mondo_0014903_medgen_c4310728_omim_617080_orphanet_306 Seizures, benign familial infantile, 5 MONDO:MONDO:0014903,MedGen:C4310728,OMIM:617080,Orphanet:306 1 1 1.0000 condition_record_support_limited 20 0 1 Seizures,_benign_familial_infantile,_5 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A scn2a_related_neurodevelopmental_disorder SCN2A-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SCN2A-related_neurodevelopmental_disorder 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A scn2a_associated_neurodevelopmental_disorders SCN2A-associated neurodevelopmental disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 SCN2A-associated_neurodevelopmental_disorders 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A mondo_mondo_0000509_medgen_cn280315 Non-syndromic intellectual disability MONDO:MONDO:0000509,MedGen:CN280315 1 1 1.0000 condition_record_support_limited 20 0 0 Non-syndromic_intellectual_disability 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A human_phenotype_ontology_hp_0001294_human_phenotype_ontology_hp_0100022_mondo_mondo_0005395_medgen_c0026650 Movement disorder Human_Phenotype_Ontology:HP:0001294,Human_Phenotype_Ontology:HP:0100022,MONDO:MONDO:0005395,MedGen:C0026650 1 1 1.0000 condition_record_support_limited 20 0 1 Movement_disorder 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 1 1 1.0000 condition_record_support_limited 20 0 0 Marfanoid_habitus_and_intellectual_disability 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A mondo_mondo_0100172_medgen_cn240835_omim_ps156200 Intellectual disability, autosomal dominant MONDO:MONDO:0100172,MedGen:CN240835,OMIM:PS156200 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_autosomal_dominant 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A medgen_c2711754 History of neurodevelopmental disorder MedGen:C2711754 1 1 1.0000 condition_record_support_limited 20 0 1 History_of_neurodevelopmental_disorder 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A human_phenotype_ontology_hp_0002131_human_phenotype_ontology_hp_0006862_human_phenotype_ontology_hp_0007152_human_phenotype_ontology_hp_0007214_mondo_mondo_0016227_medgen_c1720189_omim_ps160120_orphanet_211062 Hereditary episodic ataxia Human_Phenotype_Ontology:HP:0002131,Human_Phenotype_Ontology:HP:0006862,Human_Phenotype_Ontology:HP:0007152,Human_Phenotype_Ontology:HP:0007214,MONDO:MONDO:0016227,MedGen:C1720189,OMIM:PS160120,Orphanet:211062 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_episodic_ataxia 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A mondo_mondo_0100062_medgen_cn379639_omim_ps308350 Genetic developmental and epileptic encephalopathy MONDO:MONDO:0100062,MedGen:CN379639,OMIM:PS308350 1 1 1.0000 condition_record_support_limited 20 0 1 Genetic_developmental_and_epileptic_encephalopathy 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A mondo_mondo_0018214_medgen_c3502809_omim_ps604233_orphanet_36387 Generalized epilepsy with febrile seizures plus MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233,Orphanet:36387 1 1 1.0000 condition_record_support_limited 20 0 0 Generalized_epilepsy_with_febrile_seizures_plus 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A mondo_mondo_0005384_mesh_d004828_medgen_c0014547 Focal epilepsy MONDO:MONDO:0005384,MeSH:D004828,MedGen:C0014547 1 1 1.0000 condition_record_support_limited 20 0 1 Focal_epilepsy 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A epileptic_encephalopathy_infantile_or_early_childhood Epileptic encephalopathy, infantile or early childhood MedGen:CN263091,OMIM:PS617711 1 1 1.0000 condition_record_support_limited 20 0 0 Epileptic_encephalopathy,_infantile_or_early_childhood 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A mondo_mondo_0007496_medgen_c1868681_omim_128235_orphanet_71517 Dystonia 12 MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517 1 1 1.0000 condition_record_support_limited 20 0 1 Dystonia_12 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A mondo_mondo_0014595_medgen_c4225360_omim_616341 Developmental and epileptic encephalopathy, 30 MONDO:MONDO:0014595,MedGen:C4225360,OMIM:616341 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_30 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A mondo_mondo_0013389_medgen_c3150988_omim_613722 Developmental and epileptic encephalopathy, 12 MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_12 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A medgen_c0270851 Benign Neonatal Epilepsy MedGen:C0270851 1 1 1.0000 condition_record_support_limited 20 0 1 Benign_Neonatal_Epilepsy 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A autism_spectrum_disorder_with_intellectual_disability Autism Spectrum Disorder with Intellectual Disability . 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_Spectrum_Disorder_with_Intellectual_Disability 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN2A human_phenotype_ontology_hp_0002060_medgen_c4021762 Abnormal cerebral morphology Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_cerebral_morphology 690 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1B mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 1.0000 condition_record_support_limited 20 0 0 Long_QT_syndrome 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN1B mondo_mondo_0100062_medgen_cn379639_omim_ps308350 Genetic developmental and epileptic encephalopathy MONDO:MONDO:0100062,MedGen:CN379639,OMIM:PS308350 1 1 1.0000 condition_record_support_limited 20 0 1 Genetic_developmental_and_epileptic_encephalopathy 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN1B efo_the_experimental_factor_ontology_efo_0005137_mondo_mondo_0005449_medgen_c2748542 Conduction system disorder EFO:_The_Experimental_Factor_Ontology:EFO_0005137,MONDO:MONDO:0005449,MedGen:C2748542 1 1 1.0000 condition_record_support_limited 20 0 0 Conduction_system_disorder 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN1B human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 1.0000 condition_record_support_limited 20 0 0 Cardiomyopathy 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCN1A scn1a_related_channelopathy SCN1A-related channelopathy . 1 1 1.0000 condition_record_support_limited 20 0 0 SCN1A-related_channelopathy 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A primary_generalized_epilepsy Primary generalized epilepsy . 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_generalized_epilepsy 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 1.0000 condition_record_support_limited 20 0 1 Obesity 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A neonatal_developmental_and_epileptic_encephalopathy_with_movement_disorders_and_arthrogryposis_ndeema Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis (NDEEMA) . 1 1 1.0000 condition_record_support_limited 20 0 0 Neonatal_developmental_and_epileptic_encephalopathy_with_movement_disorders_and_arthrogryposis_(NDEEMA) 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A medgen_c0438414 Myoclonic encephalopathy MedGen:C0438414 1 1 1.0000 condition_record_support_limited 20 0 1 Myoclonic_encephalopathy 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Mild intellectual disability Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 1 1 1.0000 condition_record_support_limited 20 0 1 Mild_intellectual_disability 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A medgen_c3807541_omim_606369 Macrocephaly and epileptic encephalopathy MedGen:C3807541,OMIM:606369 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly_and_epileptic_encephalopathy 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A human_phenotype_ontology_hp_0002278_human_phenotype_ontology_hp_0002384_medgen_c0270834 Focal impaired awareness seizure Human_Phenotype_Ontology:HP:0002278,Human_Phenotype_Ontology:HP:0002384,MedGen:C0270834 1 1 1.0000 condition_record_support_limited 20 0 1 Focal_impaired_awareness_seizure 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A human_phenotype_ontology_hp_0002175_human_phenotype_ontology_hp_0002373_human_phenotype_ontology_hp_0007102_medgen_c0009952 Febrile seizure (within the age range of 3 months to 6 years) Human_Phenotype_Ontology:HP:0002175,Human_Phenotype_Ontology:HP:0002373,Human_Phenotype_Ontology:HP:0007102,MedGen:C0009952 1 1 1.0000 condition_record_support_limited 20 0 0 Febrile_seizure_(within_the_age_range_of_3_months_to_6_years) 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A mondo_mondo_0032768_medgen_c5193113_omim_618468 Developmental and epileptic encephalopathy, 76 MONDO:MONDO:0032768,MedGen:C5193113,OMIM:618468 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_76 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN1A autosomal_dominant_scn1a_related_disorders Autosomal dominant SCN1A-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_SCN1A-related_disorders 2107 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SCN11A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 9 low_record_burden_interpretation_limited low_record_burden_gene SCN11A mondo_mondo_0012092_medgen_c0020075_omim_608654_orphanet_64752 Congenital sensory neuropathy with selective loss of small myelinated fibers MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654,Orphanet:64752 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_sensory_neuropathy_with_selective_loss_of_small_myelinated_fibers 9 low_record_burden_interpretation_limited low_record_burden_gene SCN10A mondo_mondo_0014246_medgen_c3809893_omim_615551_orphanet_306577 Episodic pain syndrome, familial, 2 MONDO:MONDO:0014246,MedGen:C3809893,OMIM:615551,Orphanet:306577 1 1 1.0000 condition_record_support_limited 20 0 0 Episodic_pain_syndrome,_familial,_2 2 low_record_burden_interpretation_limited low_record_burden_gene SCN10A mondo_mondo_0015263_medgen_c1142166_omim_ps601144_orphanet_130 Brugada syndrome MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130 1 1 1.0000 condition_record_support_limited 20 0 0 Brugada_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene SCLT1 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 1.0000 condition_record_support_limited 20 0 0 Bardet-Biedl_syndrome 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCHIP1 mondo_mondo_0011789_medgen_c3551915_omim_607174_orphanet_263662 Familial meningioma MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174,Orphanet:263662 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_meningioma 1 low_record_burden_interpretation_limited low_record_burden_gene SCFD2 mondo_mondo_0020836_medgen_cn301178_omim_ps209850 Autism, susceptiblity to MONDO:MONDO:0020836,MedGen:CN301178,OMIM:PS209850 1 1 1.0000 condition_record_support_limited 20 0 0 Autism,_susceptiblity_to 1 low_record_burden_interpretation_limited low_record_burden_gene SCEL medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 1 low_record_burden_interpretation_limited low_record_burden_gene SCD5 mondo_mondo_0033668_medgen_c5436772_omim_619086 Hearing loss, autosomal dominant 79 MONDO:MONDO:0033668,MedGen:C5436772,OMIM:619086 1 1 1.0000 condition_record_support_limited 20 0 0 Hearing_loss,_autosomal_dominant_79 1 low_record_burden_interpretation_limited low_record_burden_gene SCARB1 medgen_c1853096_omim_610762 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 MedGen:C1853096,OMIM:610762 1 1 1.0000 condition_record_support_limited 20 0 0 HIGH_DENSITY_LIPOPROTEIN_CHOLESTEROL_LEVEL_QUANTITATIVE_TRAIT_LOCUS_6 1 low_record_burden_interpretation_limited low_record_burden_gene SCAPER medgen_c5680332_orphanet_98661 Syndromic retinitis pigmentosa MedGen:C5680332,Orphanet:98661 1 1 1.0000 condition_record_support_limited 20 0 1 Syndromic_retinitis_pigmentosa 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAPER human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAPER human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAPER human_phenotype_ontology_hp_0000580_human_phenotype_ontology_hp_0007702_human_phenotype_ontology_hp_0007821_human_phenotype_ontology_hp_0007869_human_phenotype_ontology_hp_0007961_human_phenotype_ontology_hp_0008010_medgen_c4551715 Pigmentary retinopathy Human_Phenotype_Ontology:HP:0000580,Human_Phenotype_Ontology:HP:0007702,Human_Phenotype_Ontology:HP:0007821,Human_Phenotype_Ontology:HP:0007869,Human_Phenotype_Ontology:HP:0007961,Human_Phenotype_Ontology:HP:0008010,MedGen:C4551715 1 1 1.0000 condition_record_support_limited 20 0 1 Pigmentary_retinopathy 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAPER human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 1.0000 condition_record_support_limited 20 0 1 Obesity 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAPER human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAPER mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAPER human_phenotype_ontology_hp_0001156_human_phenotype_ontology_hp_0001189_human_phenotype_ontology_hp_0001201_human_phenotype_ontology_hp_0005630_human_phenotype_ontology_hp_0005657_human_phenotype_ontology_hp_0005727_human_phenotype_ontology_hp_0006017_human_phenotype_ontology_hp_0006128_human_phenotype_ontology_hp_0100667_mondo_mondo_0021004_medgen_c0221357 Brachydactyly Human_Phenotype_Ontology:HP:0001156,Human_Phenotype_Ontology:HP:0001189,Human_Phenotype_Ontology:HP:0001201,Human_Phenotype_Ontology:HP:0005630,Human_Phenotype_Ontology:HP:0005657,Human_Phenotype_Ontology:HP:0005727,Human_Phenotype_Ontology:HP:0006017,Human_Phenotype_Ontology:HP:0006128,Human_Phenotype_Ontology:HP:0100667,MONDO:MONDO:0021004,MedGen:C0221357 1 1 1.0000 condition_record_support_limited 20 0 1 Brachydactyly 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAPER human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Attention deficit hyperactivity disorder Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 1.0000 condition_record_support_limited 20 0 1 Attention_deficit_hyperactivity_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAPER human_phenotype_ontology_hp_0002167_medgen_c3687424 Abnormal speech pattern Human_Phenotype_Ontology:HP:0002167,MedGen:C3687424 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_speech_pattern 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAMP4 neurodevelopmental_disorder_with_brain_abnormalities Neurodevelopmental disorder with brain abnormalities . 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_brain_abnormalities 5 low_record_burden_interpretation_limited low_record_burden_gene SCAF4 scaf4_associated_mental_retardation SCAF4-associated mental retardation . 1 1 1.0000 condition_record_support_limited 20 0 0 SCAF4-associated_mental_retardation 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAF4 medgen_c5681780_orphanet_102369 Rare syndromic intellectual disability MedGen:C5681780,Orphanet:102369 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_syndromic_intellectual_disability 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAF4 mondo_mondo_0060596_medgen_c4540327_omim_617755_orphanet_686482 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies MONDO:MONDO:0060596,MedGen:C4540327,OMIM:617755,Orphanet:686482 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_dysmorphic_facies_and_distal_limb_anomalies 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAF4 human_phenotype_ontology_hp_0000003_human_phenotype_ontology_hp_0004715_mondo_mondo_0015988_medgen_c3714581_orphanet_1851 Multicystic kidney dysplasia Human_Phenotype_Ontology:HP:0000003,Human_Phenotype_Ontology:HP:0004715,MONDO:MONDO:0015988,MedGen:C3714581,Orphanet:1851 1 1 1.0000 condition_record_support_limited 20 0 1 Multicystic_kidney_dysplasia 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAF4 mondo_mondo_0100038_medgen_c5568766_orphanet_528084 Complex neurodevelopmental disorder MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 1 1 1.0000 condition_record_support_limited 20 0 0 Complex_neurodevelopmental_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SCAF4 human_phenotype_ontology_hp_0000077_medgen_c0266292 Abnormality of the kidney Human_Phenotype_Ontology:HP:0000077,MedGen:C0266292 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_kidney 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SBF2 sbf2_related_disorder SBF2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SBF2-related_disorder 88 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SBF1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 37 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SBF1 mondo_mondo_0018995_medgen_c4082197_orphanet_64749 Charcot-Marie-Tooth disease type 4 MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease_type_4 37 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SBF1 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease 37 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SBF1 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 37 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SBDS mondo_mondo_0800414_medgen_c2684859 Aplastic anemia, susceptibility to MONDO:MONDO:0800414,MedGen:C2684859 1 1 1.0000 condition_record_support_limited 20 0 1 Aplastic_anemia,_susceptibility_to 48 compact_adjacent_exon_block_opportunity local_compact_architecture SATB2 human_phenotype_ontology_hp_0009088_medgen_c1865313 Speech articulation difficulties Human_Phenotype_Ontology:HP:0009088,MedGen:C1865313 1 1 1.0000 condition_record_support_limited 20 0 1 Speech_articulation_difficulties 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB2 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB2 human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Micrognathia Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 1.0000 condition_record_support_limited 20 0 1 Micrognathia 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB2 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB2 human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB2 mondo_mondo_0007336_medgen_c1837218_omim_119540_orphanet_2014 Isolated cleft palate MONDO:MONDO:0007336,MedGen:C1837218,OMIM:119540,Orphanet:2014 1 1 1.0000 condition_record_support_limited 20 0 1 Isolated_cleft_palate 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB2 human_phenotype_ontology_hp_0010279_human_phenotype_ontology_hp_0012371_medgen_c0240309 Hyperplasia of midface Human_Phenotype_Ontology:HP:0010279,Human_Phenotype_Ontology:HP:0012371,MedGen:C0240309 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperplasia_of_midface 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB2 human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 1.0000 condition_record_support_limited 20 0 1 Dystonic_disorder 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB2 human_phenotype_ontology_hp_0000192_human_phenotype_ontology_hp_0002714_medgen_c1866195 Downturned corners of mouth Human_Phenotype_Ontology:HP:0000192,Human_Phenotype_Ontology:HP:0002714,MedGen:C1866195 1 1 1.0000 condition_record_support_limited 20 0 1 Downturned_corners_of_mouth 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB2 human_phenotype_ontology_hp_0000258_human_phenotype_ontology_hp_0000268_human_phenotype_ontology_hp_0005440_medgen_c0221358 Dolichocephaly Human_Phenotype_Ontology:HP:0000258,Human_Phenotype_Ontology:HP:0000268,Human_Phenotype_Ontology:HP:0005440,MedGen:C0221358 1 1 1.0000 condition_record_support_limited 20 0 1 Dolichocephaly 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB2 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_disorder 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB2 human_phenotype_ontology_hp_0001158_human_phenotype_ontology_hp_0001588_human_phenotype_ontology_hp_0004209_human_phenotype_ontology_hp_0004212_human_phenotype_ontology_hp_0006083_human_phenotype_ontology_hp_0006181_human_phenotype_ontology_hp_0009181_medgen_c1850049 Clinodactyly of the 5th finger Human_Phenotype_Ontology:HP:0001158,Human_Phenotype_Ontology:HP:0001588,Human_Phenotype_Ontology:HP:0004209,Human_Phenotype_Ontology:HP:0004212,Human_Phenotype_Ontology:HP:0006083,Human_Phenotype_Ontology:HP:0006181,Human_Phenotype_Ontology:HP:0009181,MedGen:C1850049 1 1 1.0000 condition_record_support_limited 20 0 1 Clinodactyly_of_the_5th_finger 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB2 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebellar_ataxia 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB2 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB2 human_phenotype_ontology_hp_0000164_human_phenotype_ontology_hp_0001567_human_phenotype_ontology_hp_0006296_human_phenotype_ontology_hp_0006348_medgen_c0262444 Abnormality of the dentition Human_Phenotype_Ontology:HP:0000164,Human_Phenotype_Ontology:HP:0001567,Human_Phenotype_Ontology:HP:0006296,Human_Phenotype_Ontology:HP:0006348,MedGen:C0262444 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_dentition 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB2 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB1 satb1_related_disorder SATB1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SATB1-related_disorder 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SATB1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SASS6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 7 low_record_burden_interpretation_limited low_record_burden_gene SASH1 spino_cellular_carcinoma spino-cellular carcinoma MedGen:CN219574 1 1 1.0000 condition_record_support_limited 20 0 1 spino-cellular_carcinoma 14 low_record_burden_interpretation_limited low_record_burden_gene SASH1 medgen_c4552243 dyschromatosis MedGen:C4552243 1 1 1.0000 condition_record_support_limited 20 0 1 dyschromatosis 14 low_record_burden_interpretation_limited low_record_burden_gene SASH1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene SASH1 ungual_dystrophy Ungual dystrophy MedGen:CN219573 1 1 1.0000 condition_record_support_limited 20 0 1 Ungual_dystrophy 14 low_record_burden_interpretation_limited low_record_burden_gene SASH1 human_phenotype_ontology_hp_0000982_medgen_c4551675 Palmoplantar keratoderma Human_Phenotype_Ontology:HP:0000982,MedGen:C4551675 1 1 1.0000 condition_record_support_limited 20 0 1 Palmoplantar_keratoderma 14 low_record_burden_interpretation_limited low_record_burden_gene SASH1 medgen_c5193062_omim_618373 Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma MedGen:C5193062,OMIM:618373 1 1 1.0000 condition_record_support_limited 20 0 1 Cancer,_alopecia,_pigment_dyscrasia,_onychodystrophy,_and_keratoderma 14 low_record_burden_interpretation_limited low_record_burden_gene SASH1 human_phenotype_ontology_hp_0001596_human_phenotype_ontology_hp_0002238_human_phenotype_ontology_hp_0008068_mondo_mondo_0004907_medgen_c0002170_orphanet_79364 Alopecia Human_Phenotype_Ontology:HP:0001596,Human_Phenotype_Ontology:HP:0002238,Human_Phenotype_Ontology:HP:0008068,MONDO:MONDO:0004907,MedGen:C0002170,Orphanet:79364 1 1 1.0000 condition_record_support_limited 20 0 1 Alopecia 14 low_record_burden_interpretation_limited low_record_burden_gene SARS2 sars2_associated_condition SARS2-associated condition . 1 1 1.0000 condition_record_support_limited 20 0 0 SARS2-associated_condition 5 low_record_burden_interpretation_limited low_record_burden_gene SARS1 human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Cerebral arteriovenous malformation Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_arteriovenous_malformation 3 low_record_burden_interpretation_limited low_record_burden_gene SARM1 slc46a1_related_disorder SLC46A1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SLC46A1-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene SARM1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 7 low_record_burden_interpretation_limited low_record_burden_gene SARDH condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene SARDH human_phenotype_ontology_hp_0010896_mondo_mondo_0010008_medgen_c0268563_omim_268900_orphanet_3129 Sarcosine dehydrogenase deficiency Human_Phenotype_Ontology:HP:0010896,MONDO:MONDO:0010008,MedGen:C0268563,OMIM:268900,Orphanet:3129 1 1 1.0000 condition_record_support_limited 20 0 0 Sarcosine_dehydrogenase_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene SAR1B sar1b_related_disorder SAR1B-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SAR1B-related_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SAP130 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene SAMHD1 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SAMHD1 human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_palsy 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SAMD9L interferonopathy interferonopathy . 1 1 1.0000 condition_record_support_limited 20 0 0 interferonopathy 19 low_record_burden_interpretation_limited low_record_burden_gene SAMD9L mondo_mondo_0030805_medgen_c5676950_omim_619806_orphanet_631106 Spinocerebellar ataxia 49 MONDO:MONDO:0030805,MedGen:C5676950,OMIM:619806,Orphanet:631106 1 1 1.0000 condition_record_support_limited 20 0 0 Spinocerebellar_ataxia_49 19 low_record_burden_interpretation_limited low_record_burden_gene SAMD9L human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 19 low_record_burden_interpretation_limited low_record_burden_gene SAMD11 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene SALL4 mondo_mondo_0011086_medgen_c1832322_omim_601457_orphanet_331206 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457,Orphanet:331206 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SALL2 mondo_mondo_0009002_medgen_c4011974_omim_216820_orphanet_194 Coloboma, ocular, autosomal recessive MONDO:MONDO:0009002,MedGen:C4011974,OMIM:216820,Orphanet:194 1 1 1.0000 condition_record_support_limited 20 0 0 Coloboma,_ocular,_autosomal_recessive 1 low_record_burden_interpretation_limited low_record_burden_gene SALL1 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SALL1 mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_anomaly_of_kidney_and_urinary_tract 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SAG human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture SACS mondo_mondo_0010549_medgen_c0393808_omim_302800_orphanet_101075 Charcot-Marie-Tooth disease X-linked dominant 1 MONDO:MONDO:0010549,MedGen:C0393808,OMIM:302800,Orphanet:101075 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease_X-linked_dominant_1 990 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SACS mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease 990 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SACS mondo_mondo_0010040_medgen_c3151619_omim_270500 Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability MONDO:MONDO:0010040,MedGen:C3151619,OMIM:270500 1 1 1.0000 condition_record_support_limited 20 0 1 Ataxia,_spastic,_childhood-onset,_autosomal_recessive,_with_optic_atrophy_and_intellectual_disability 990 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture SACS human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_morphology 990 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture S100PBP mondo_mondo_0024189_medgen_cn228418_omim_ps616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset MONDO:MONDO:0024189,MedGen:CN228418,OMIM:PS616263 1 1 1.0000 condition_record_support_limited 20 0 0 Neurologic,_endocrine,_and_pancreatic_disease,_multisystem,_infantile-onset 1 low_record_burden_interpretation_limited low_record_burden_gene RYR3 human_phenotype_ontology_hp_0001789_mondo_mondo_0015193_medgen_c0020305_orphanet_1041 Hydrops fetalis Human_Phenotype_Ontology:HP:0001789,MONDO:MONDO:0015193,MedGen:C0020305,Orphanet:1041 1 1 1.0000 condition_record_support_limited 20 0 0 Hydrops_fetalis 1 low_record_burden_interpretation_limited low_record_burden_gene RYR2 efo_the_experimental_factor_ontology_efo_0004287_human_phenotype_ontology_hp_0001663_human_phenotype_ontology_hp_0005166_mondo_mondo_0000190_medgen_c0042510 Ventricular fibrillation EFO:_The_Experimental_Factor_Ontology:EFO_0004287,Human_Phenotype_Ontology:HP:0001663,Human_Phenotype_Ontology:HP:0005166,MONDO:MONDO:0000190,MedGen:C0042510 1 1 1.0000 condition_record_support_limited 20 0 1 Ventricular_fibrillation 254 large_gene_or_donor_burden_stress_case donor_burden_stress RYR2 mondo_mondo_0100234_medgen_c0340493_orphanet_228140 Paroxysmal familial ventricular fibrillation MONDO:MONDO:0100234,MedGen:C0340493,Orphanet:228140 1 1 1.0000 condition_record_support_limited 20 0 1 Paroxysmal_familial_ventricular_fibrillation 254 large_gene_or_donor_burden_stress_case donor_burden_stress RYR2 human_phenotype_ontology_hp_0011664_medgen_c4021133 Left ventricular noncompaction cardiomyopathy Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 1 1 1.0000 condition_record_support_limited 20 0 0 Left_ventricular_noncompaction_cardiomyopathy 254 large_gene_or_donor_burden_stress_case donor_burden_stress RYR2 mondo_mondo_0100042_medgen_c0264886_omim_115080_orphanet_871 Conduction disorder of the heart MONDO:MONDO:0100042,MedGen:C0264886,OMIM:115080,Orphanet:871 1 1 1.0000 condition_record_support_limited 20 0 0 Conduction_disorder_of_the_heart 254 large_gene_or_donor_burden_stress_case donor_burden_stress RYR2 mondo_mondo_0012762_medgen_c2677794_omim_611938_orphanet_3286 Catecholaminergic polymorphic ventricular tachycardia 2 MONDO:MONDO:0012762,MedGen:C2677794,OMIM:611938,Orphanet:3286 1 1 1.0000 condition_record_support_limited 20 0 0 Catecholaminergic_polymorphic_ventricular_tachycardia_2 254 large_gene_or_donor_burden_stress_case donor_burden_stress RYR2 efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 Cardiac arrhythmia EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 1 1 1.0000 condition_record_support_limited 20 0 0 Cardiac_arrhythmia 254 large_gene_or_donor_burden_stress_case donor_burden_stress RYR2 mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 Arrhythmogenic right ventricular cardiomyopathy MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 1 1 1.0000 condition_record_support_limited 20 0 0 Arrhythmogenic_right_ventricular_cardiomyopathy 254 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 1.0000 condition_record_support_limited 20 0 1 Scoliosis 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 human_phenotype_ontology_hp_0003201_medgen_c0035410 Rhabdomyolysis Human_Phenotype_Ontology:HP:0003201,MedGen:C0035410 1 1 1.0000 condition_record_support_limited 20 0 0 Rhabdomyolysis 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 human_phenotype_ontology_hp_0002093_human_phenotype_ontology_hp_0004893_human_phenotype_ontology_hp_0005937_human_phenotype_ontology_hp_0006542_medgen_c0035229 Respiratory insufficiency Human_Phenotype_Ontology:HP:0002093,Human_Phenotype_Ontology:HP:0004893,Human_Phenotype_Ontology:HP:0005937,Human_Phenotype_Ontology:HP:0006542,MedGen:C0035229 1 1 1.0000 condition_record_support_limited 20 0 1 Respiratory_insufficiency 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 human_phenotype_ontology_hp_0000508_mondo_mondo_0000728_medgen_c0005745 Ptosis Human_Phenotype_Ontology:HP:0000508,MONDO:MONDO:0000728,MedGen:C0005745 1 1 1.0000 condition_record_support_limited 20 0 1 Ptosis 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 human_phenotype_ontology_hp_0003432_human_phenotype_ontology_hp_0003475_human_phenotype_ontology_hp_0003701_human_phenotype_ontology_hp_0007195_human_phenotype_ontology_hp_0008950_human_phenotype_ontology_hp_0008961_human_phenotype_ontology_hp_0008975_human_phenotype_ontology_hp_0009033_human_phenotype_ontology_hp_0009075_medgen_c0221629 Proximal muscle weakness Human_Phenotype_Ontology:HP:0003432,Human_Phenotype_Ontology:HP:0003475,Human_Phenotype_Ontology:HP:0003701,Human_Phenotype_Ontology:HP:0007195,Human_Phenotype_Ontology:HP:0008950,Human_Phenotype_Ontology:HP:0008961,Human_Phenotype_Ontology:HP:0008975,Human_Phenotype_Ontology:HP:0009033,Human_Phenotype_Ontology:HP:0009075,MedGen:C0221629 1 1 1.0000 condition_record_support_limited 20 0 1 Proximal_muscle_weakness 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 human_phenotype_ontology_hp_0006792_human_phenotype_ontology_hp_0006966_human_phenotype_ontology_hp_0007126_human_phenotype_ontology_hp_0008943_human_phenotype_ontology_hp_0008980_human_phenotype_ontology_hp_0009041_medgen_c1850794 Proximal amyotrophy Human_Phenotype_Ontology:HP:0006792,Human_Phenotype_Ontology:HP:0006966,Human_Phenotype_Ontology:HP:0007126,Human_Phenotype_Ontology:HP:0008943,Human_Phenotype_Ontology:HP:0008980,Human_Phenotype_Ontology:HP:0009041,MedGen:C1850794 1 1 1.0000 condition_record_support_limited 20 0 1 Proximal_amyotrophy 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 human_phenotype_ontology_hp_0008933_human_phenotype_ontology_hp_0009022_human_phenotype_ontology_hp_0009057_human_phenotype_ontology_hp_0009063_medgen_c1836609 Progressive distal muscle weakness Human_Phenotype_Ontology:HP:0008933,Human_Phenotype_Ontology:HP:0009022,Human_Phenotype_Ontology:HP:0009057,Human_Phenotype_Ontology:HP:0009063,MedGen:C1836609 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_distal_muscle_weakness 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 human_phenotype_ontology_hp_0003692_human_phenotype_ontology_hp_0003749_human_phenotype_ontology_hp_0008999_human_phenotype_ontology_hp_0009036_medgen_c0427064 Pelvic girdle muscle weakness Human_Phenotype_Ontology:HP:0003692,Human_Phenotype_Ontology:HP:0003749,Human_Phenotype_Ontology:HP:0008999,Human_Phenotype_Ontology:HP:0009036,MedGen:C0427064 1 1 1.0000 condition_record_support_limited 20 0 1 Pelvic_girdle_muscle_weakness 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 Neuromuscular disease MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 1 1 1.0000 condition_record_support_limited 20 0 1 Neuromuscular_disease 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 mondo_mondo_0013710_medgen_c1833477_omim_614350_orphanet_144 Lynch syndrome 5 MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144 1 1 1.0000 condition_record_support_limited 20 0 1 Lynch_syndrome_5 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Limb-girdle muscular dystrophy Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 1.0000 condition_record_support_limited 20 0 0 Limb-girdle_muscular_dystrophy 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 human_phenotype_ontology_hp_0001789_mondo_mondo_0015193_medgen_c0020305_orphanet_1041 Hydrops fetalis Human_Phenotype_Ontology:HP:0001789,MONDO:MONDO:0015193,MedGen:C0020305,Orphanet:1041 1 1 1.0000 condition_record_support_limited 20 0 0 Hydrops_fetalis 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 history_of_neonatal_hypotonia History of neonatal hypotonia . 1 1 1.0000 condition_record_support_limited 20 0 1 History_of_neonatal_hypotonia 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 human_phenotype_ontology_hp_0005684_mondo_mondo_0019942_medgen_c0265213_omim_ps108120_orphanet_97120 Distal arthrogryposis Human_Phenotype_Ontology:HP:0005684,MONDO:MONDO:0019942,MedGen:C0265213,OMIM:PS108120,Orphanet:97120 1 1 1.0000 condition_record_support_limited 20 0 0 Distal_arthrogryposis 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 human_phenotype_ontology_hp_0003741_human_phenotype_ontology_hp_0003793_mondo_mondo_0019950_medgen_c0699743_orphanet_97242 Congenital muscular dystrophy Human_Phenotype_Ontology:HP:0003741,Human_Phenotype_Ontology:HP:0003793,MONDO:MONDO:0019950,MedGen:C0699743,Orphanet:97242 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_muscular_dystrophy 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 human_phenotype_ontology_hp_0002803_mondo_mondo_0022823_medgen_c0332878 Congenital contracture Human_Phenotype_Ontology:HP:0002803,MONDO:MONDO:0022823,MedGen:C0332878 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_contracture 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 autosomal_dominant_and_autosomal_recessive_ryr1_related_disorders Autosomal dominant and autosomal recessive RYR1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_and_autosomal_recessive_RYR1-related_disorders 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 mondo_mondo_0014361_medgen_c4014435_omim_615834_orphanet_352490 Autism spectrum disorder due to AUTS2 deficiency MONDO:MONDO:0014361,MedGen:C4014435,OMIM:615834,Orphanet:352490 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder_due_to_AUTS2_deficiency 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 human_phenotype_ontology_hp_0008942_medgen_c3807306 Acute rhabdomyolysis Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_rhabdomyolysis 770 large_gene_or_donor_burden_stress_case donor_burden_stress RYR1 human_phenotype_ontology_hp_0010305_medgen_c0344490 Absence of the sacrum Human_Phenotype_Ontology:HP:0010305,MedGen:C0344490 1 1 1.0000 condition_record_support_limited 20 0 1 Absence_of_the_sacrum 770 large_gene_or_donor_burden_stress_case donor_burden_stress RXRA human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 1 low_record_burden_interpretation_limited low_record_burden_gene RUVBL1 mondo_mondo_0976233_medgen_c6012700_omim_621102 Neurodevelopmental disorder with progressive spasticity and brain abnormalities MONDO:MONDO:0976233,MedGen:C6012700,OMIM:621102 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_progressive_spasticity_and_brain_abnormalities 4 low_record_burden_interpretation_limited low_record_burden_gene RUVBL1 mondo_mondo_0958013_medgen_c5882741_omim_620670_orphanet_697417 Immunodeficiency, common variable, 15 MONDO:MONDO:0958013,MedGen:C5882741,OMIM:620670,Orphanet:697417 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency,_common_variable,_15 4 low_record_burden_interpretation_limited low_record_burden_gene RUNX2 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome 166 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RUNX2 medgen_c5774312 Cleidocranial dysplasia 1, forme fruste, with brachydactyly MedGen:C5774312 1 1 1.0000 condition_record_support_limited 20 0 0 Cleidocranial_dysplasia_1,_forme_fruste,_with_brachydactyly 166 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RUNX2 medgen_c5774315 Cleidocranial dysplasia 1, forme fruste, dental anomalies only MedGen:C5774315 1 1 1.0000 condition_record_support_limited 20 0 1 Cleidocranial_dysplasia_1,_forme_fruste,_dental_anomalies_only 166 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RUNX1T1 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 2 low_record_burden_interpretation_limited low_record_burden_gene RUNX1T1 mondo_mondo_0016996_medgen_c4509932_orphanet_263665 NK-cell enteropathy MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665 1 1 1.0000 condition_record_support_limited 20 0 0 NK-cell_enteropathy 2 low_record_burden_interpretation_limited low_record_burden_gene RUNX1 human_phenotype_ontology_hp_0001876_mondo_mondo_0001529_medgen_c0030312 Pancytopenia Human_Phenotype_Ontology:HP:0001876,MONDO:MONDO:0001529,MedGen:C0030312 1 1 1.0000 condition_record_support_limited 20 0 1 Pancytopenia 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RUNX1 human_phenotype_ontology_hp_0002863_human_phenotype_ontology_hp_0004832_human_phenotype_ontology_hp_0006730_medgen_c0026985 Myelodysplasia Human_Phenotype_Ontology:HP:0002863,Human_Phenotype_Ontology:HP:0004832,Human_Phenotype_Ontology:HP:0006730,MedGen:C0026985 1 1 1.0000 condition_record_support_limited 20 0 1 Myelodysplasia 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RUNX1 mondo_mondo_0000009_mesh_d001791_medgen_c0005818_omim_ps231200_orphanet_248326 Inherited bleeding disorder, platelet-type MONDO:MONDO:0000009,MeSH:D001791,MedGen:C0005818,OMIM:PS231200,Orphanet:248326 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_bleeding_disorder,_platelet-type 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RUNX1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer-predisposing_syndrome 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RUNX1 medgen_c5442191 Clonal Cytopenia of Undetermined Significance MedGen:C5442191 1 1 1.0000 condition_record_support_limited 20 0 1 Clonal_Cytopenia_of_Undetermined_Significance 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RUNX1 mondo_mondo_0004653_medgen_c1292772_orphanet_98824 Atypical chronic myeloid leukemia, BCR-ABL1 negative MONDO:MONDO:0004653,MedGen:C1292772,Orphanet:98824 1 1 1.0000 condition_record_support_limited 20 0 1 Atypical_chronic_myeloid_leukemia,_BCR-ABL1_negative 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RUNX1 human_phenotype_ontology_hp_0011869_medgen_c0855740 Abnormal platelet function Human_Phenotype_Ontology:HP:0011869,MedGen:C0855740 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_platelet_function 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RUBCN condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene RUBCN mondo_mondo_0011694_medgen_c1847725_omim_606658_orphanet_98769 Spinocerebellar ataxia type 15/16 MONDO:MONDO:0011694,MedGen:C1847725,OMIM:606658,Orphanet:98769 1 1 1.0000 condition_record_support_limited 20 0 0 Spinocerebellar_ataxia_type_15/16 5 low_record_burden_interpretation_limited low_record_burden_gene RTTN rttn_related_disorder RTTN-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RTTN-related_disorder 82 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RTN4IP1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RTN4IP1 rtn4ip1_related_disorder RTN4IP1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RTN4IP1-related_disorder 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RTN4IP1 human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 1.0000 condition_record_support_limited 20 0 1 Optic_atrophy 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RTN4IP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RTEL1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RTEL1 mondo_mondo_0010584_medgen_c1148551_omim_305000 Dyskeratosis congenita, X-linked MONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000 1 1 1.0000 condition_record_support_limited 20 0 0 Dyskeratosis_congenita,_X-linked 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RTEL1 mondo_mondo_0014547_medgen_c4015643_omim_616239_orphanet_444458 Combined oxidative phosphorylation defect type 24 MONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239,Orphanet:444458 1 1 1.0000 condition_record_support_limited 20 0 1 Combined_oxidative_phosphorylation_defect_type_24 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RTEL1 mondo_mondo_0013895_medgen_c3553748_omim_614814_orphanet_974 Adams-Oliver syndrome 3 MONDO:MONDO:0013895,MedGen:C3553748,OMIM:614814,Orphanet:974 1 1 1.0000 condition_record_support_limited 20 0 1 Adams-Oliver_syndrome_3 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RTEL1 human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Acute myeloid leukemia Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_myeloid_leukemia 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RTEL1 mondo_mondo_0009699_mesh_d020191_medgen_c0751779_omim_254900_orphanet_163696 Action myoclonus-renal failure syndrome MONDO:MONDO:0009699,MeSH:D020191,MedGen:C0751779,OMIM:254900,Orphanet:163696 1 1 1.0000 condition_record_support_limited 20 0 0 Action_myoclonus-renal_failure_syndrome 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RTEL1 human_phenotype_ontology_hp_0001871_human_phenotype_ontology_hp_0003135_medgen_c0850715 Abnormality of blood and blood-forming tissues Human_Phenotype_Ontology:HP:0001871,Human_Phenotype_Ontology:HP:0003135,MedGen:C0850715 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_blood_and_blood-forming_tissues 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RSRP1 medgen_c4551754 RhD negative MedGen:C4551754 1 1 1.0000 condition_record_support_limited 20 0 0 RhD_negative 1 low_record_burden_interpretation_limited low_record_burden_gene RSRC2 human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 1.0000 condition_record_support_limited 20 0 1 Strabismus 1 low_record_burden_interpretation_limited low_record_burden_gene RSRC2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 1 low_record_burden_interpretation_limited low_record_burden_gene RSRC2 human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 1.0000 condition_record_support_limited 20 0 1 Obesity 1 low_record_burden_interpretation_limited low_record_burden_gene RSRC2 human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Myopia Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 1 1 1.0000 condition_record_support_limited 20 0 1 Myopia 1 low_record_burden_interpretation_limited low_record_burden_gene RSRC2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene RSRC2 human_phenotype_ontology_hp_0000729_medgen_c0856975 Autistic behavior Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 1.0000 condition_record_support_limited 20 0 1 Autistic_behavior 1 low_record_burden_interpretation_limited low_record_burden_gene RSRC1 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 11 low_record_burden_interpretation_limited low_record_burden_gene RSPRY1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene RSPO4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 12 low_record_burden_interpretation_limited low_record_burden_gene RSPO2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene RSPO2 mondo_mondo_0010110_medgen_c2931218_omim_ps273395_orphanet_3301 Tetraamelia-multiple malformations syndrome MONDO:MONDO:0010110,MedGen:C2931218,OMIM:PS273395,Orphanet:3301 1 1 1.0000 condition_record_support_limited 20 0 0 Tetraamelia-multiple_malformations_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene RSPO2 mondo_mondo_0060733_medgen_c4747940_omim_618022 Humerofemoral hypoplasia with radiotibial ray deficiency MONDO:MONDO:0060733,MedGen:C4747940,OMIM:618022 1 1 1.0000 condition_record_support_limited 20 0 0 Humerofemoral_hypoplasia_with_radiotibial_ray_deficiency 5 low_record_burden_interpretation_limited low_record_burden_gene RSPO1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene RSPO1 rspo1_related_disorder RSPO1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RSPO1-related_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene RSPO1 medgen_c2674504 Palmoplantar hyperkeratosis and true hermaphroditism MedGen:C2674504 1 1 1.0000 condition_record_support_limited 20 0 0 Palmoplantar_hyperkeratosis_and_true_hermaphroditism 6 low_record_burden_interpretation_limited low_record_burden_gene RSPO1 differences_in_sex_development Differences in sex development . 1 1 1.0000 condition_record_support_limited 20 0 0 Differences_in_sex_development 6 low_record_burden_interpretation_limited low_record_burden_gene RSPH9 rsph9_related_disorder RSPH9-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RSPH9-related_disorder 21 compact_adjacent_exon_block_opportunity local_compact_architecture RSPH9 mondo_mondo_0009306_medgen_c2673536_omim_233650_orphanet_157949 Combined immunodeficiency with skin granulomas MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650,Orphanet:157949 1 1 1.0000 condition_record_support_limited 20 0 0 Combined_immunodeficiency_with_skin_granulomas 21 compact_adjacent_exon_block_opportunity local_compact_architecture RSPH4A human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 57 compact_adjacent_exon_block_opportunity local_compact_architecture RSPH4A mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 Kartagener syndrome MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 1 Kartagener_syndrome 57 compact_adjacent_exon_block_opportunity local_compact_architecture RSPH1 respiratory_ciliopathies_including_non_cf_bronchiectasis Respiratory ciliopathies including non-CF bronchiectasis . 1 1 1.0000 condition_record_support_limited 20 0 0 Respiratory_ciliopathies_including_non-CF_bronchiectasis 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RS1 medgen_c4068740 Peripheral schisis MedGen:C4068740 1 1 1.0000 condition_record_support_limited 20 0 1 Peripheral_schisis 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RS1 mondo_mondo_0011053_medgen_c1303073_omim_601358_orphanet_3051 Nicolaides-Baraitser syndrome MONDO:MONDO:0011053,MedGen:C1303073,OMIM:601358,Orphanet:3051 1 1 1.0000 condition_record_support_limited 20 0 0 Nicolaides-Baraitser_syndrome 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RS1 human_phenotype_ontology_hp_0011511_medgen_c4023321 Macular schisis Human_Phenotype_Ontology:HP:0011511,MedGen:C4023321 1 1 1.0000 condition_record_support_limited 20 0 1 Macular_schisis 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RRP7A mondo_mondo_0030339_medgen_c5562069_omim_619453 Microcephaly 28, primary, autosomal recessive MONDO:MONDO:0030339,MedGen:C5562069,OMIM:619453 1 1 1.0000 condition_record_support_limited 20 0 0 Microcephaly_28,_primary,_autosomal_recessive 1 low_record_burden_interpretation_limited low_record_burden_gene RRM2B rrm2b_related_disorder RRM2B-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RRM2B-related_disorder 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RRM2B medgen_c3150172 Mitochondrial DNA depletion syndrome 8B (MNGIE type) MedGen:C3150172 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_DNA_depletion_syndrome_8B_(MNGIE_type) 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RRM1 rrm1_related_disorder RRM1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RRM1-related_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene RREB1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene RREB1 rreb1_associated_noonan_like_syndrome RREB1-associated Noonan-like syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 RREB1-associated_Noonan-like_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene RRAS2 rras2_related_disorder RRAS2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RRAS2-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene RRAS2 mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 1 1 1.0000 condition_record_support_limited 20 0 1 RASopathy 11 low_record_burden_interpretation_limited low_record_burden_gene RRAS2 human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Ovarian neoplasm Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 1 1 1.0000 condition_record_support_limited 20 0 1 Ovarian_neoplasm 11 low_record_burden_interpretation_limited low_record_burden_gene RRAS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 1 low_record_burden_interpretation_limited low_record_burden_gene RRAGD condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene RRAGD renal_tubulopathies Renal tubulopathies . 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_tubulopathies 8 low_record_burden_interpretation_limited low_record_burden_gene RRAGD rragd_related_disorder RRAGD-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RRAGD-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene RRAGC condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 1 See_cases 4 low_record_burden_interpretation_limited low_record_burden_gene RPS7 human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Diamond-Blackfan anemia Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 1 1 1.0000 condition_record_support_limited 20 0 0 Diamond-Blackfan_anemia 12 low_record_burden_interpretation_limited low_record_burden_gene RPS6KC1 human_phenotype_ontology_hp_0006970_mondo_mondo_0015742_medgen_c0023529 Periventricular leukomalacia Human_Phenotype_Ontology:HP:0006970,MONDO:MONDO:0015742,MedGen:C0023529 1 1 1.0000 condition_record_support_limited 20 0 1 Periventricular_leukomalacia 6 low_record_burden_interpretation_limited low_record_burden_gene RPS6KC1 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 6 low_record_burden_interpretation_limited low_record_burden_gene RPS6KC1 human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Hypoplasia of the corpus callosum Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplasia_of_the_corpus_callosum 6 low_record_burden_interpretation_limited low_record_burden_gene RPS6KC1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 6 low_record_burden_interpretation_limited low_record_burden_gene RPS6KC1 human_phenotype_ontology_hp_0012448_medgen_c1277241 Delayed myelination Human_Phenotype_Ontology:HP:0012448,MedGen:C1277241 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_myelination 6 low_record_burden_interpretation_limited low_record_burden_gene RPS6KC1 human_phenotype_ontology_hp_0002500_human_phenotype_ontology_hp_0200100_medgen_c0948163 Abnormal cerebral white matter morphology Human_Phenotype_Ontology:HP:0002500,Human_Phenotype_Ontology:HP:0200100,MedGen:C0948163 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cerebral_white_matter_morphology 6 low_record_burden_interpretation_limited low_record_burden_gene RPS6KA3 human_phenotype_ontology_hp_0001629_human_phenotype_ontology_hp_0001652_mondo_mondo_0002070_medgen_c0018818_omim_ps614429 Ventricular septal defect Human_Phenotype_Ontology:HP:0001629,Human_Phenotype_Ontology:HP:0001652,MONDO:MONDO:0002070,MedGen:C0018818,OMIM:PS614429 1 1 1.0000 condition_record_support_limited 20 0 1 Ventricular_septal_defect 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS6KA3 human_phenotype_ontology_hp_0000325_human_phenotype_ontology_hp_0004645_human_phenotype_ontology_hp_0004662_human_phenotype_ontology_hp_0004668_medgen_c1835884 Triangular face Human_Phenotype_Ontology:HP:0000325,Human_Phenotype_Ontology:HP:0004645,Human_Phenotype_Ontology:HP:0004662,Human_Phenotype_Ontology:HP:0004668,MedGen:C1835884 1 1 1.0000 condition_record_support_limited 20 0 1 Triangular_face 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS6KA3 human_phenotype_ontology_hp_0002944_human_phenotype_ontology_hp_0004567_human_phenotype_ontology_hp_0004585_medgen_c0749379 Thoracolumbar scoliosis Human_Phenotype_Ontology:HP:0002944,Human_Phenotype_Ontology:HP:0004567,Human_Phenotype_Ontology:HP:0004585,MedGen:C0749379 1 1 1.0000 condition_record_support_limited 20 0 1 Thoracolumbar_scoliosis 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS6KA3 human_phenotype_ontology_hp_0012471_medgen_c1836543 Thick vermilion border Human_Phenotype_Ontology:HP:0012471,MedGen:C1836543 1 1 1.0000 condition_record_support_limited 20 0 1 Thick_vermilion_border 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS6KA3 human_phenotype_ontology_hp_0001328_human_phenotype_ontology_hp_0007234_mondo_mondo_0016225_medgen_c4025790_orphanet_211047 Specific learning disability Human_Phenotype_Ontology:HP:0001328,Human_Phenotype_Ontology:HP:0007234,MONDO:MONDO:0016225,MedGen:C4025790,Orphanet:211047 1 1 1.0000 condition_record_support_limited 20 0 1 Specific_learning_disability 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS6KA3 human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Motor delay Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 1.0000 condition_record_support_limited 20 0 1 Motor_delay 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS6KA3 human_phenotype_ontology_hp_0001634_mondo_mondo_0004910_medgen_c0026267 Mitral valve prolapse Human_Phenotype_Ontology:HP:0001634,MONDO:MONDO:0004910,MedGen:C0026267 1 1 1.0000 condition_record_support_limited 20 0 1 Mitral_valve_prolapse 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS6KA3 human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Micrognathia Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 1.0000 condition_record_support_limited 20 0 1 Micrognathia 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS6KA3 human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS6KA3 human_phenotype_ontology_hp_0000369_medgen_c0239234 Low-set ears Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234 1 1 1.0000 condition_record_support_limited 20 0 1 Low-set_ears 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS6KA3 human_phenotype_ontology_hp_0002162_medgen_c1855728 Low posterior hairline Human_Phenotype_Ontology:HP:0002162,MedGen:C1855728 1 1 1.0000 condition_record_support_limited 20 0 1 Low_posterior_hairline 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS6KA3 human_phenotype_ontology_hp_0000294_medgen_c1842366 Low anterior hairline Human_Phenotype_Ontology:HP:0000294,MedGen:C1842366 1 1 1.0000 condition_record_support_limited 20 0 1 Low_anterior_hairline 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS6KA3 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS6KA3 human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Hypertelorism Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertelorism 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS6KA3 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS6KA3 human_phenotype_ontology_hp_0002020_human_phenotype_ontology_hp_0004793_medgen_c4317146 Gastroesophageal reflux Human_Phenotype_Ontology:HP:0002020,Human_Phenotype_Ontology:HP:0004793,MedGen:C4317146 1 1 1.0000 condition_record_support_limited 20 0 1 Gastroesophageal_reflux 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS6KA3 human_phenotype_ontology_hp_0000258_human_phenotype_ontology_hp_0000268_human_phenotype_ontology_hp_0005440_medgen_c0221358 Dolichocephaly Human_Phenotype_Ontology:HP:0000258,Human_Phenotype_Ontology:HP:0000268,Human_Phenotype_Ontology:HP:0005440,MedGen:C0221358 1 1 1.0000 condition_record_support_limited 20 0 1 Dolichocephaly 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS6KA3 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS6KA3 human_phenotype_ontology_hp_0000305_human_phenotype_ontology_hp_0002002_human_phenotype_ontology_hp_0004654_medgen_c1839797 Deep philtrum Human_Phenotype_Ontology:HP:0000305,Human_Phenotype_Ontology:HP:0002002,Human_Phenotype_Ontology:HP:0004654,MedGen:C1839797 1 1 1.0000 condition_record_support_limited 20 0 1 Deep_philtrum 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS6KA3 human_phenotype_ontology_hp_0030084_medgen_c4551485 Clinodactyly Human_Phenotype_Ontology:HP:0030084,MedGen:C4551485 1 1 1.0000 condition_record_support_limited 20 0 1 Clinodactyly 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS6KA3 human_phenotype_ontology_hp_0002814_medgen_c1096086 Abnormality of the lower limb Human_Phenotype_Ontology:HP:0002814,MedGen:C1096086 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_lower_limb 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS27 mondo_mondo_0044310_medgen_c4479428_omim_617409 Diamond-Blackfan anemia 17 MONDO:MONDO:0044310,MedGen:C4479428,OMIM:617409 1 1 1.0000 condition_record_support_limited 20 0 0 Diamond-Blackfan_anemia_17 1 low_record_burden_interpretation_limited low_record_burden_gene RPS26 human_phenotype_ontology_hp_0012410_mondo_mondo_0001705_medgen_c0034902 Pure red-cell aplasia Human_Phenotype_Ontology:HP:0012410,MONDO:MONDO:0001705,MedGen:C0034902 1 1 1.0000 condition_record_support_limited 20 0 1 Pure_red-cell_aplasia 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS26 human_phenotype_ontology_hp_0001903_human_phenotype_ontology_hp_0001926_human_phenotype_ontology_hp_0003136_human_phenotype_ontology_hp_0005509_mondo_mondo_0002280_medgen_c0002871 Anemia Human_Phenotype_Ontology:HP:0001903,Human_Phenotype_Ontology:HP:0001926,Human_Phenotype_Ontology:HP:0003136,Human_Phenotype_Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871 1 1 1.0000 condition_record_support_limited 20 0 1 Anemia 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPS24 human_phenotype_ontology_hp_0001871_human_phenotype_ontology_hp_0003135_medgen_c0850715 Abnormality of blood and blood-forming tissues Human_Phenotype_Ontology:HP:0001871,Human_Phenotype_Ontology:HP:0003135,MedGen:C0850715 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_blood_and_blood-forming_tissues 17 low_record_burden_interpretation_limited low_record_burden_gene RPS23 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene RPS20 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_cancer-predisposing_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene RPS17 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene RPS15A mondo_mondo_0032670_medgen_c5193022_omim_618313 Diamond-Blackfan anemia 20 MONDO:MONDO:0032670,MedGen:C5193022,OMIM:618313 1 1 1.0000 condition_record_support_limited 20 0 0 Diamond-Blackfan_anemia_20 1 low_record_burden_interpretation_limited low_record_burden_gene RPS10 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene RPS10 rps10_related_disorder RPS10-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 RPS10-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene RPL5 human_phenotype_ontology_hp_0000260_medgen_c1866134 Wide anterior fontanel Human_Phenotype_Ontology:HP:0000260,MedGen:C1866134 1 1 1.0000 condition_record_support_limited 20 0 1 Wide_anterior_fontanel 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL5 human_phenotype_ontology_hp_0100673_medgen_cn117565 Vaginal hydrocele Human_Phenotype_Ontology:HP:0100673,MedGen:CN117565 1 1 1.0000 condition_record_support_limited 20 0 1 Vaginal_hydrocele 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL5 human_phenotype_ontology_hp_0000257_human_phenotype_ontology_hp_0001364_human_phenotype_ontology_hp_0004482_medgen_c1849075 Relative macrocephaly Human_Phenotype_Ontology:HP:0000257,Human_Phenotype_Ontology:HP:0001364,Human_Phenotype_Ontology:HP:0004482,MedGen:C1849075 1 1 1.0000 condition_record_support_limited 20 0 1 Relative_macrocephaly 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL5 rpl5_related_disorder RPL5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 RPL5-related_disorder 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL5 human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Pulmonary arterial hypertension Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 1 1 1.0000 condition_record_support_limited 20 0 1 Pulmonary_arterial_hypertension 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL5 human_phenotype_ontology_hp_0000368_medgen_c1857486 Low-set, posteriorly rotated ears Human_Phenotype_Ontology:HP:0000368,MedGen:C1857486 1 1 1.0000 condition_record_support_limited 20 0 1 Low-set,_posteriorly_rotated_ears 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL5 human_phenotype_ontology_hp_0006796_human_phenotype_ontology_hp_0006945_human_phenotype_ontology_hp_0006956_human_phenotype_ontology_hp_0007173_medgen_c1856409 Lateral ventricle dilatation Human_Phenotype_Ontology:HP:0006796,Human_Phenotype_Ontology:HP:0006945,Human_Phenotype_Ontology:HP:0006956,Human_Phenotype_Ontology:HP:0007173,MedGen:C1856409 1 1 1.0000 condition_record_support_limited 20 0 1 Lateral_ventricle_dilatation 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL5 human_phenotype_ontology_hp_0007229_medgen_c1837246 Intracerebral periventricular calcifications Human_Phenotype_Ontology:HP:0007229,MedGen:C1837246 1 1 1.0000 condition_record_support_limited 20 0 1 Intracerebral_periventricular_calcifications 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL5 human_phenotype_ontology_hp_0000601_human_phenotype_ontology_hp_0007877_medgen_c0424711 Hypotelorism Human_Phenotype_Ontology:HP:0000601,Human_Phenotype_Ontology:HP:0007877,MedGen:C0424711 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotelorism 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL5 human_phenotype_ontology_hp_0001393_human_phenotype_ontology_hp_0001398_human_phenotype_ontology_hp_0002240_medgen_c0019209 Hepatomegaly Human_Phenotype_Ontology:HP:0001393,Human_Phenotype_Ontology:HP:0001398,Human_Phenotype_Ontology:HP:0002240,MedGen:C0019209 1 1 1.0000 condition_record_support_limited 20 0 1 Hepatomegaly 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL5 human_phenotype_ontology_hp_0001028_human_phenotype_ontology_hp_0007444_mondo_mondo_0006500_medgen_c0018916 Hemangioma Human_Phenotype_Ontology:HP:0001028,Human_Phenotype_Ontology:HP:0007444,MONDO:MONDO:0006500,MedGen:C0018916 1 1 1.0000 condition_record_support_limited 20 0 1 Hemangioma 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL5 human_phenotype_ontology_hp_0012133_medgen_c0542035 Erythroid hypoplasia Human_Phenotype_Ontology:HP:0012133,MedGen:C0542035 1 1 1.0000 condition_record_support_limited 20 0 1 Erythroid_hypoplasia 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL5 human_phenotype_ontology_hp_0000958_medgen_c0151908 Dry skin Human_Phenotype_Ontology:HP:0000958,MedGen:C0151908 1 1 1.0000 condition_record_support_limited 20 0 1 Dry_skin 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL5 human_phenotype_ontology_hp_0000494_human_phenotype_ontology_hp_0007714_human_phenotype_ontology_hp_0007908_medgen_c0423110 Downslanted palpebral fissures Human_Phenotype_Ontology:HP:0000494,Human_Phenotype_Ontology:HP:0007714,Human_Phenotype_Ontology:HP:0007908,MedGen:C0423110 1 1 1.0000 condition_record_support_limited 20 0 1 Downslanted_palpebral_fissures 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL5 mondo_mondo_0007110_medgen_c2676137_omim_105650_orphanet_124 Diamond-Blackfan anemia 1 MONDO:MONDO:0007110,MedGen:C2676137,OMIM:105650,Orphanet:124 1 1 1.0000 condition_record_support_limited 20 0 1 Diamond-Blackfan_anemia_1 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL5 human_phenotype_ontology_hp_0001630_human_phenotype_ontology_hp_0001631_mondo_mondo_0006664_medgen_c0018817_omim_ps108800_orphanet_1478 Atrial septal defect Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478 1 1 1.0000 condition_record_support_limited 20 0 1 Atrial_septal_defect 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL5 human_phenotype_ontology_hp_0001915_mondo_mondo_0015909_medgen_c0002874_omim_609135_orphanet_182040_orphanet_88 Aplastic anemia Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88 1 1 1.0000 condition_record_support_limited 20 0 1 Aplastic_anemia 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL5 human_phenotype_ontology_hp_0010463_medgen_c0266368 Aplasia of the ovary Human_Phenotype_Ontology:HP:0010463,MedGen:C0266368 1 1 1.0000 condition_record_support_limited 20 0 1 Aplasia_of_the_ovary 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL5 human_phenotype_ontology_hp_0000377_human_phenotype_ontology_hp_0000390_human_phenotype_ontology_hp_0000398_human_phenotype_ontology_hp_0004465_human_phenotype_ontology_hp_0008562_human_phenotype_ontology_hp_0008566_human_phenotype_ontology_hp_0008567_human_phenotype_ontology_hp_0008572_human_phenotype_ontology_hp_0008580_human_phenotype_ontology_hp_0008582_human_phenotype_ontology_hp_0008594_human_phenotype_ontology_hp_0008602_human_phenotype_ontology_hp_0040111_medgen_c0857379 Abnormal pinna morphology Human_Phenotype_Ontology:HP:0000377,Human_Phenotype_Ontology:HP:0000390,Human_Phenotype_Ontology:HP:0000398,Human_Phenotype_Ontology:HP:0004465,Human_Phenotype_Ontology:HP:0008562,Human_Phenotype_Ontology:HP:0008566,Human_Phenotype_Ontology:HP:0008567,Human_Phenotype_Ontology:HP:0008572,Human_Phenotype_Ontology:HP:0008580,Human_Phenotype_Ontology:HP:0008582,Human_Phenotype_Ontology:HP:0008594,Human_Phenotype_Ontology:HP:0008602,Human_Phenotype_Ontology:HP:0040111,MedGen:C0857379 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_pinna_morphology 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL3L condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene RPL35A condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene RPL35 mondo_mondo_0032669_medgen_c5193021_omim_618312 Diamond-Blackfan anemia 19 MONDO:MONDO:0032669,MedGen:C5193021,OMIM:618312 1 1 1.0000 condition_record_support_limited 20 0 0 Diamond-Blackfan_anemia_19 1 low_record_burden_interpretation_limited low_record_burden_gene RPL31 human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Diamond-Blackfan anemia Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 1 1 1.0000 condition_record_support_limited 20 0 0 Diamond-Blackfan_anemia 1 low_record_burden_interpretation_limited low_record_burden_gene RPL27 mondo_mondo_0044309_medgen_c4479424_omim_617408 Diamond-Blackfan anemia 16 MONDO:MONDO:0044309,MedGen:C4479424,OMIM:617408 1 1 1.0000 condition_record_support_limited 20 0 0 Diamond-Blackfan_anemia_16 1 low_record_burden_interpretation_limited low_record_burden_gene RPL21 mondo_mondo_0014384_medgen_c4014563_omim_615885_orphanet_55654 Hypotrichosis 12 MONDO:MONDO:0014384,MedGen:C4014563,OMIM:615885,Orphanet:55654 1 1 1.0000 condition_record_support_limited 20 0 0 Hypotrichosis_12 1 low_record_burden_interpretation_limited low_record_burden_gene RPL18 mondo_mondo_0032668_medgen_c5193020_omim_618310 Diamond-Blackfan anemia 18 MONDO:MONDO:0032668,MedGen:C5193020,OMIM:618310 1 1 1.0000 condition_record_support_limited 20 0 0 Diamond-Blackfan_anemia_18 1 low_record_burden_interpretation_limited low_record_burden_gene RPL17 human_phenotype_ontology_hp_0000325_human_phenotype_ontology_hp_0004645_human_phenotype_ontology_hp_0004662_human_phenotype_ontology_hp_0004668_medgen_c1835884 Triangular face Human_Phenotype_Ontology:HP:0000325,Human_Phenotype_Ontology:HP:0004645,Human_Phenotype_Ontology:HP:0004662,Human_Phenotype_Ontology:HP:0004668,MedGen:C1835884 1 1 1.0000 condition_record_support_limited 20 0 1 Triangular_face 2 low_record_burden_interpretation_limited low_record_burden_gene RPL17 human_phenotype_ontology_hp_0001422_human_phenotype_ontology_hp_0001518_human_phenotype_ontology_hp_0008849_human_phenotype_ontology_hp_0008919_human_phenotype_ontology_hp_0008927_medgen_c0235991 Small for gestational age Human_Phenotype_Ontology:HP:0001422,Human_Phenotype_Ontology:HP:0001518,Human_Phenotype_Ontology:HP:0008849,Human_Phenotype_Ontology:HP:0008919,Human_Phenotype_Ontology:HP:0008927,MedGen:C0235991 1 1 1.0000 condition_record_support_limited 20 0 1 Small_for_gestational_age 2 low_record_burden_interpretation_limited low_record_burden_gene RPL17 human_phenotype_ontology_hp_0001876_mondo_mondo_0001529_medgen_c0030312 Pancytopenia Human_Phenotype_Ontology:HP:0001876,MONDO:MONDO:0001529,MedGen:C0030312 1 1 1.0000 condition_record_support_limited 20 0 1 Pancytopenia 2 low_record_burden_interpretation_limited low_record_burden_gene RPL17 human_phenotype_ontology_hp_0001972_mondo_mondo_0002281_medgen_c0002886 Macrocytic anemia Human_Phenotype_Ontology:HP:0001972,MONDO:MONDO:0002281,MedGen:C0002886 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocytic_anemia 2 low_record_burden_interpretation_limited low_record_burden_gene RPL17 human_phenotype_ontology_hp_0000342_human_phenotype_ontology_hp_0000348_medgen_c0239676 High forehead Human_Phenotype_Ontology:HP:0000342,Human_Phenotype_Ontology:HP:0000348,MedGen:C0239676 1 1 1.0000 condition_record_support_limited 20 0 1 High_forehead 2 low_record_burden_interpretation_limited low_record_burden_gene RPL17 human_phenotype_ontology_hp_0001511_human_phenotype_ontology_hp_0001515_human_phenotype_ontology_hp_0008862_human_phenotype_ontology_hp_0008892_human_phenotype_ontology_hp_0008931_mondo_mondo_0005030_medgen_c0015934 Fetal growth restriction Human_Phenotype_Ontology:HP:0001511,Human_Phenotype_Ontology:HP:0001515,Human_Phenotype_Ontology:HP:0008862,Human_Phenotype_Ontology:HP:0008892,Human_Phenotype_Ontology:HP:0008931,MONDO:MONDO:0005030,MedGen:C0015934 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_growth_restriction 2 low_record_burden_interpretation_limited low_record_burden_gene RPL17 human_phenotype_ontology_hp_0001531_human_phenotype_ontology_hp_0008863_human_phenotype_ontology_hp_0008925_medgen_c1867873 Failure to thrive in infancy Human_Phenotype_Ontology:HP:0001531,Human_Phenotype_Ontology:HP:0008863,Human_Phenotype_Ontology:HP:0008925,MedGen:C1867873 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive_in_infancy 2 low_record_burden_interpretation_limited low_record_burden_gene RPL17 human_phenotype_ontology_hp_0000286_human_phenotype_ontology_hp_0000624_human_phenotype_ontology_hp_0007930_medgen_c0678230_omim_131500 Epicanthus Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500 1 1 1.0000 condition_record_support_limited 20 0 1 Epicanthus 2 low_record_burden_interpretation_limited low_record_burden_gene RPL17 human_phenotype_ontology_hp_0004810_human_phenotype_ontology_hp_0005545_mondo_mondo_0015253_mesh_d029503_medgen_c1260899_omim_ps105650_orphanet_124 Diamond-Blackfan anemia Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124 1 1 1.0000 condition_record_support_limited 20 0 0 Diamond-Blackfan_anemia 2 low_record_burden_interpretation_limited low_record_burden_gene RPL17 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 2 low_record_burden_interpretation_limited low_record_burden_gene RPL17 human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Attention deficit hyperactivity disorder Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 1.0000 condition_record_support_limited 20 0 1 Attention_deficit_hyperactivity_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene RPL15 rpl15_related_disorder RPL15-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RPL15-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene RPL13 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene RPL13 mondo_mondo_0011803_medgen_c1846564_omim_607259_orphanet_99013 Hereditary spastic paraplegia 7 MONDO:MONDO:0011803,MedGen:C1846564,OMIM:607259,Orphanet:99013 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia_7 10 low_record_burden_interpretation_limited low_record_burden_gene RPL11 human_phenotype_ontology_hp_0001896_medgen_c0858867 Reticulocytopenia Human_Phenotype_Ontology:HP:0001896,MedGen:C0858867 1 1 1.0000 condition_record_support_limited 20 0 1 Reticulocytopenia 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL11 rpl11_related_disorder RPL11-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RPL11-related_disorder 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL11 human_phenotype_ontology_hp_0001903_human_phenotype_ontology_hp_0001926_human_phenotype_ontology_hp_0003136_human_phenotype_ontology_hp_0005509_mondo_mondo_0002280_medgen_c0002871 Anemia Human_Phenotype_Ontology:HP:0001903,Human_Phenotype_Ontology:HP:0001926,Human_Phenotype_Ontology:HP:0003136,Human_Phenotype_Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871 1 1 1.0000 condition_record_support_limited 20 0 1 Anemia 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPL10L mondo_mondo_0030515_medgen_c5562055_omim_619689 Spermatogenic failure 63 MONDO:MONDO:0030515,MedGen:C5562055,OMIM:619689 1 1 1.0000 condition_record_support_limited 20 0 1 Spermatogenic_failure_63 1 low_record_burden_interpretation_limited low_record_burden_gene RPL10L human_phenotype_ontology_hp_0031038_medgen_c4477100 Spermatogenesis maturation arrest Human_Phenotype_Ontology:HP:0031038,MedGen:C4477100 1 1 1.0000 condition_record_support_limited 20 0 1 Spermatogenesis_maturation_arrest 1 low_record_burden_interpretation_limited low_record_burden_gene RPIA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 10 low_record_burden_interpretation_limited low_record_burden_gene RPH3A condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene RPGRIP1L rogrip1l_related_disorder ROGRIP1L-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ROGRIP1L-related_disorder 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1L mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 0 Leber_congenital_amaurosis 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1L hp_0003473_hp_0000508 HP:0003473; HP:0000508 . 1 1 1.0000 condition_record_support_limited 20 0 0 HP:0003473%3B_HP:0000508 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1L mondo_mondo_0005308_medgen_c4277690_orphanet_363250 Ciliopathy MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 1 1 1.0000 condition_record_support_limited 20 0 1 Ciliopathy 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1L mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 1.0000 condition_record_support_limited 20 0 0 Bardet-Biedl_syndrome 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1L human_phenotype_ontology_hp_0001197_medgen_c4025797 Abnormality of prenatal development or birth Human_Phenotype_Ontology:HP:0001197,MedGen:C4025797 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_prenatal_development_or_birth 336 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1 human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Visual impairment Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 1.0000 condition_record_support_limited 20 0 1 Visual_impairment 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1 human_phenotype_ontology_hp_0000666_medgen_c0271385 Horizontal nystagmus Human_Phenotype_Ontology:HP:0000666,MedGen:C0271385 1 1 1.0000 condition_record_support_limited 20 0 1 Horizontal_nystagmus 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1 mondo_mondo_0000455_medgen_c0730290_orphanet_1871 Cone dystrophy MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 1.0000 condition_record_support_limited 20 0 0 Cone_dystrophy 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1 human_phenotype_ontology_hp_0000551_medgen_c0234629 Color vision defect Human_Phenotype_Ontology:HP:0000551,MedGen:C0234629 1 1 1.0000 condition_record_support_limited 20 0 1 Color_vision_defect 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGRIP1 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_eye 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGR mondo_mondo_0000910_medgen_c1839368_omim_312612_orphanet_791 Retinitis pigmentosa 6 MONDO:MONDO:0000910,MedGen:C1839368,OMIM:312612,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa_6 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGR mondo_mondo_0014982_medgen_c4310655_omim_617238 Myopia 25, autosomal dominant MONDO:MONDO:0014982,MedGen:C4310655,OMIM:617238 1 1 1.0000 condition_record_support_limited 20 0 1 Myopia_25,_autosomal_dominant 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGR human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 1.0000 condition_record_support_limited 20 0 0 Macular_dystrophy 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGR mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGR medgen_c5394216 High myopia, early-onset MedGen:C5394216 1 1 1.0000 condition_record_support_limited 20 0 1 High_myopia,_early-onset 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGR human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Congenital stationary night blindness Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_stationary_night_blindness 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPGR mondo_mondo_0800320_medgen_c1844777 Cone dystrophy 1, X-linked MONDO:MONDO:0800320,MedGen:C1844777 1 1 1.0000 condition_record_support_limited 20 0 1 Cone_dystrophy_1,_X-linked 790 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Rod-cone dystrophy Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 1 1 1.0000 condition_record_support_limited 20 0 1 Rod-cone_dystrophy 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 human_phenotype_ontology_hp_0000546_human_phenotype_ontology_hp_0007632_human_phenotype_ontology_hp_0007863_mondo_mondo_0004580_mesh_d012162_medgen_c0035304 Retinal degeneration Human_Phenotype_Ontology:HP:0000546,Human_Phenotype_Ontology:HP:0007632,Human_Phenotype_Ontology:HP:0007863,MONDO:MONDO:0004580,MeSH:D012162,MedGen:C0035304 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_degeneration 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 rpe65_related_retinopathy RPE65-related retinopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 RPE65-related_retinopathy 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 1.0000 condition_record_support_limited 20 0 1 Nystagmus 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 human_phenotype_ontology_hp_0011748_mondo_mondo_0008720_medgen_c0342388_omim_201400_orphanet_199296 Congenital isolated adrenocorticotropic hormone deficiency Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_isolated_adrenocorticotropic_hormone_deficiency 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 human_phenotype_ontology_hp_0007706_human_phenotype_ontology_hp_0007875_medgen_c0005754 Congenital blindness Human_Phenotype_Ontology:HP:0007706,Human_Phenotype_Ontology:HP:0007875,MedGen:C0005754 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_blindness 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 autosomal_recessive_rpe65_related_disorders Autosomal recessive RPE65-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_RPE65-related_disorders 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 human_phenotype_ontology_hp_0000504_medgen_c4025846 Abnormality of vision Human_Phenotype_Ontology:HP:0000504,MedGen:C4025846 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_vision 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RPE65 human_phenotype_ontology_hp_0000512_human_phenotype_ontology_hp_0003285_medgen_c0476397 Abnormal electroretinogram Human_Phenotype_Ontology:HP:0000512,Human_Phenotype_Ontology:HP:0003285,MedGen:C0476397 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_electroretinogram 327 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RP2 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_eye 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RP1L1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 46 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RP1L1 human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 1.0000 condition_record_support_limited 20 0 1 Optic_atrophy 46 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RP1L1 medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_retinitis_pigmentosa 46 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RP1 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy 334 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ROS1 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 5 low_record_burden_interpretation_limited low_record_burden_gene RORB human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RORB mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RORA severe_intellectual_deficiency Severe intellectual deficiency . 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_deficiency 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RORA mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ROR2 medgen_c3151610 Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly MedGen:C3151610 1 1 1.0000 condition_record_support_limited 20 0 1 Robinow_syndrome,_autosomal_recessive,_with_brachy-syn-polydactyly 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ROR2 medgen_c3151609 Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals MedGen:C3151609 1 1 1.0000 condition_record_support_limited 20 0 1 Robinow_syndrome,_autosomal_recessive,_with_aplasia/hypoplasia_of_phalanges_and_metacarpals/metatarsals 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ROBO4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene ROBO4 robo4_related_disorder ROBO4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ROBO4-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene ROBO3 robo3_related_disorder ROBO3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ROBO3-related_disorder 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ROBO3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ROBO3 mondo_mondo_0001527_medgen_c0702143 Conjugate gaze palsy MONDO:MONDO:0001527,MedGen:C0702143 1 1 1.0000 condition_record_support_limited 20 0 1 Conjugate_gaze_palsy 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ROBO1 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ROBO1 human_phenotype_ontology_hp_0010880_medgen_c4023676 Increased nuchal translucency Human_Phenotype_Ontology:HP:0010880,MedGen:C4023676 1 1 1.0000 condition_record_support_limited 20 0 0 Increased_nuchal_translucency 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ROBO1 human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 1.0000 condition_record_support_limited 20 0 0 Heart,_malformation_of 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNU7-1 mondo_mondo_0009033_medgen_c1857512_omim_218340_orphanet_1777 Temtamy syndrome MONDO:MONDO:0009033,MedGen:C1857512,OMIM:218340,Orphanet:1777 1 1 1.0000 condition_record_support_limited 20 0 1 Temtamy_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene RNU6-9 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 1 low_record_burden_interpretation_limited low_record_burden_gene RNU6-8 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 1 low_record_burden_interpretation_limited low_record_burden_gene RNU6-1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 1 low_record_burden_interpretation_limited low_record_burden_gene RNU5B-1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene RNU5B-1 rnu5b_1_related_neurodevelopmental_disorder RNU5B-1-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RNU5B-1-related_neurodevelopmental_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene RNU5B-1 rnu5b_1_associated_neurodevelopmental_disorder RNU5B-1-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RNU5B-1-associated_neurodevelopmental_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene RNU5B-1 mondo_mondo_1060179_medgen_cn379760_omim_621302 RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity MONDO:MONDO:1060179,MedGen:CN379760,OMIM:621302 1 1 1.0000 condition_record_support_limited 20 0 1 RNU5B-1_related_neurodevelopmental_disorder_with_seizures_and_joint_laxity 2 low_record_burden_interpretation_limited low_record_burden_gene RNU4ATAC rnu4atac_related_spliceosomopathies RNU4ATAC-related spliceosomopathies . 1 1 1.0000 condition_record_support_limited 20 0 1 RNU4ATAC-related_spliceosomopathies 28 single_exon_hotspot_opportunity local_compact_architecture RNU4-2 rnu4_2_related_condition RNU4-2-related condition . 1 1 1.0000 condition_record_support_limited 20 0 1 RNU4-2-related_condition 30 single_exon_hotspot_opportunity local_compact_architecture RNU4-2 rnu4_2_associated_neurodevelopmental_disorder RNU4-2-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RNU4-2-associated_neurodevelopmental_disorder 30 single_exon_hotspot_opportunity local_compact_architecture RNU4-2 autosomal_recessive_rnu4_2_related_neurodevelopmental_disorder Autosomal recessive RNU4-2-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_RNU4-2-related_neurodevelopmental_disorder 30 single_exon_hotspot_opportunity local_compact_architecture RNU4-1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene RNU4-1 rnu4_2_related_condition RNU4-2-related condition . 1 1 1.0000 condition_record_support_limited 20 0 1 RNU4-2-related_condition 1 low_record_burden_interpretation_limited low_record_burden_gene RNU4-1 rnu4_2_associated_neurodevelopmental_disorder RNU4-2-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RNU4-2-associated_neurodevelopmental_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene RNU4-1 mondo_mondo_0971172_medgen_c5935628_omim_620851_orphanet_686488 Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language MONDO:MONDO:0971172,MedGen:C5935628,OMIM:620851,Orphanet:686488 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_hypotonia,_brain_anomalies,_distinctive_facies,_and_absent_language 1 low_record_burden_interpretation_limited low_record_burden_gene RNU2-2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 24 single_exon_hotspot_opportunity local_compact_architecture RNU2-2 rnu2_2p_related_neurodevelopmental_disorder RNU2-2P-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RNU2-2P-related_neurodevelopmental_disorder 24 single_exon_hotspot_opportunity local_compact_architecture RNU2-2 mondo_mondo_0859188_medgen_c5561979_omim_619517 Neurodevelopmental disorder with seizures and brain abnormalities MONDO:MONDO:0859188,MedGen:C5561979,OMIM:619517 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_seizures_and_brain_abnormalities 24 single_exon_hotspot_opportunity local_compact_architecture RNU2-2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 24 single_exon_hotspot_opportunity local_compact_architecture RNPC3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene RNF43 mondo_mondo_0100290_medgen_c3272797 Colon serrated polyposis MONDO:MONDO:0100290,MedGen:C3272797 1 1 1.0000 condition_record_support_limited 20 0 1 Colon_serrated_polyposis 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNF31 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 3 low_record_burden_interpretation_limited low_record_burden_gene RNF216 human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Leukodystrophy Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 1.0000 condition_record_support_limited 20 0 1 Leukodystrophy 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNF216 mondo_mondo_0007794_medgen_c0342384_omim_146110_orphanet_432 Hypogonadotropic hypogonadism 7 with or without anosmia MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432 1 1 1.0000 condition_record_support_limited 20 0 1 Hypogonadotropic_hypogonadism_7_with_or_without_anosmia 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNF213 human_phenotype_ontology_hp_0001297_human_phenotype_ontology_hp_0002452_mondo_mondo_0005098_mesh_d020521_medgen_c0038454 Stroke disorder Human_Phenotype_Ontology:HP:0001297,Human_Phenotype_Ontology:HP:0002452,MONDO:MONDO:0005098,MeSH:D020521,MedGen:C0038454 1 1 1.0000 condition_record_support_limited 20 0 1 Stroke_disorder 22 large_gene_or_donor_burden_stress_case donor_burden_stress RNF213 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 22 large_gene_or_donor_burden_stress_case donor_burden_stress RNF213 human_phenotype_ontology_hp_0000121_mondo_mondo_0001567_medgen_c0027709 Nephrocalcinosis Human_Phenotype_Ontology:HP:0000121,MONDO:MONDO:0001567,MedGen:C0027709 1 1 1.0000 condition_record_support_limited 20 0 1 Nephrocalcinosis 22 large_gene_or_donor_burden_stress_case donor_burden_stress RNF213 mondo_mondo_0016820_mesh_d009072_medgen_c0026654_omim_ps252350_orphanet_2573 Moyamoya disease MONDO:MONDO:0016820,MeSH:D009072,MedGen:C0026654,OMIM:PS252350,Orphanet:2573 1 1 1.0000 condition_record_support_limited 20 0 1 Moyamoya_disease 22 large_gene_or_donor_burden_stress_case donor_burden_stress RNF213 human_phenotype_ontology_hp_0000023_medgen_c0019294 Inguinal hernia Human_Phenotype_Ontology:HP:0000023,MedGen:C0019294 1 1 1.0000 condition_record_support_limited 20 0 1 Inguinal_hernia 22 large_gene_or_donor_burden_stress_case donor_burden_stress RNF213 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 22 large_gene_or_donor_burden_stress_case donor_burden_stress RNF213 human_phenotype_ontology_hp_0001028_human_phenotype_ontology_hp_0007444_mondo_mondo_0006500_medgen_c0018916 Hemangioma Human_Phenotype_Ontology:HP:0001028,Human_Phenotype_Ontology:HP:0007444,MONDO:MONDO:0006500,MedGen:C0018916 1 1 1.0000 condition_record_support_limited 20 0 1 Hemangioma 22 large_gene_or_donor_burden_stress_case donor_burden_stress RNF212B human_phenotype_ontology_hp_0008222_mondo_mondo_0021124_medgen_c0021361 Female infertility Human_Phenotype_Ontology:HP:0008222,MONDO:MONDO:0021124,MedGen:C0021361 1 1 1.0000 condition_record_support_limited 20 0 0 Female_infertility 1 low_record_burden_interpretation_limited low_record_burden_gene RNF207 mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 1.0000 condition_record_support_limited 20 0 0 Long_QT_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene RNF2 mondo_mondo_0859171_medgen_c5561946_omim_619460 Luo-Schoch-Yamamoto syndrome MONDO:MONDO:0859171,MedGen:C5561946,OMIM:619460 1 1 1.0000 condition_record_support_limited 20 0 0 Luo-Schoch-Yamamoto_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene RNF170 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene RNF170 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_paraplegia 6 low_record_burden_interpretation_limited low_record_burden_gene RNF170 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene RNF170 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 6 low_record_burden_interpretation_limited low_record_burden_gene RNF170 mondo_mondo_0012166_medgen_c1837015_omim_608984 Autosomal dominant sensory ataxia 1 MONDO:MONDO:0012166,MedGen:C1837015,OMIM:608984 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_sensory_ataxia_1 6 low_record_burden_interpretation_limited low_record_burden_gene RNF17 mondo_mondo_0013443_medgen_c3151187_omim_613823_orphanet_808 Seckel syndrome 5 MONDO:MONDO:0013443,MedGen:C3151187,OMIM:613823,Orphanet:808 1 1 1.0000 condition_record_support_limited 20 0 0 Seckel_syndrome_5 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNF17 mondo_mondo_0009617_medgen_c1855081_omim_251200_orphanet_2512 Microcephaly 1, primary, autosomal recessive MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512 1 1 1.0000 condition_record_support_limited 20 0 0 Microcephaly_1,_primary,_autosomal_recessive 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNF17 mondo_mondo_0008822_medgen_c1859722_omim_208085_orphanet_2697 Arthrogryposis, renal dysfunction, and cholestasis 1 MONDO:MONDO:0008822,MedGen:C1859722,OMIM:208085,Orphanet:2697 1 1 1.0000 condition_record_support_limited 20 0 0 Arthrogryposis,_renal_dysfunction,_and_cholestasis_1 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNF168 rnf168_related_disorder RNF168-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RNF168-related_disorder 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNF157 mondo_mondo_0008678_medgen_c0175702_omim_194050_orphanet_904 Williams syndrome MONDO:MONDO:0008678,MedGen:C0175702,OMIM:194050,Orphanet:904 1 1 1.0000 condition_record_support_limited 20 0 1 Williams_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene RNF157 mondo_mondo_0018305_medgen_c0018203_omim_ps306400_orphanet_379 Chronic granulomatous disease MONDO:MONDO:0018305,MedGen:C0018203,OMIM:PS306400,Orphanet:379 1 1 1.0000 condition_record_support_limited 20 0 1 Chronic_granulomatous_disease 1 low_record_burden_interpretation_limited low_record_burden_gene RNF14 human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 1.0000 condition_record_support_limited 20 0 1 Dystonic_disorder 31 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RNF14 mondo_mondo_0010269_medgen_c5964756_omim_300216_orphanet_190 Coats disease MONDO:MONDO:0010269,MedGen:C5964756,OMIM:300216,Orphanet:190 1 1 1.0000 condition_record_support_limited 20 0 1 Coats_disease 31 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RNF14 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 31 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RNF14 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 31 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RNF135 macrocephaly_macrosomia_facial_dysmorphism_syndrome Macrocephaly, macrosomia, facial dysmorphism syndrome MedGen:CN068456,Orphanet:137634 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly,_macrosomia,_facial_dysmorphism_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene RNF135 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene RNF125 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene RNF125 mondo_mondo_0014553_medgen_c4015710_omim_616260 Tenorio syndrome MONDO:MONDO:0014553,MedGen:C4015710,OMIM:616260 1 1 1.0000 condition_record_support_limited 20 0 0 Tenorio_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene RNF113A human_phenotype_ontology_hp_0002060_medgen_c4021762 Abnormal cerebral morphology Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_cerebral_morphology 5 low_record_burden_interpretation_limited low_record_burden_gene RNASET2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene RNASEL mondo_mondo_0011098_medgen_c4722327_omim_601518_orphanet_1331 Prostate cancer, hereditary, 1 MONDO:MONDO:0011098,MedGen:C4722327,OMIM:601518,Orphanet:1331 1 1 1.0000 condition_record_support_limited 20 0 0 Prostate_cancer,_hereditary,_1 3 low_record_burden_interpretation_limited low_record_burden_gene RNASEH2C rnaseh2c_related_disorder RNASEH2C-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 RNASEH2C-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene RNASEH2C mondo_mondo_0030852_medgen_c5436821_omim_619103 Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities MONDO:MONDO:0030852,MedGen:C5436821,OMIM:619103 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_dysmorphic_facies,_sleep_disturbance,_and_brain_abnormalities 7 low_record_burden_interpretation_limited low_record_burden_gene RNASEH2C mondo_mondo_0018866_medgen_c0393591_omim_ps225750_orphanet_51 Aicardi Goutieres syndrome MONDO:MONDO:0018866,MedGen:C0393591,OMIM:PS225750,Orphanet:51 1 1 1.0000 condition_record_support_limited 20 0 1 Aicardi_Goutieres_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene RNASEH2C human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 7 low_record_burden_interpretation_limited low_record_burden_gene RNASEH2B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNASEH2B human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_palsy 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNASEH2B mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNASEH2B mondo_mondo_0009165_medgen_c0796126_omim_225750_orphanet_51 Aicardi-Goutieres syndrome 1 MONDO:MONDO:0009165,MedGen:C0796126,OMIM:225750,Orphanet:51 1 1 1.0000 condition_record_support_limited 20 0 1 Aicardi-Goutieres_syndrome_1 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNASEH2B human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNASEH2A mondo_mondo_0700259_medgen_cn377545 RNASEH2A-related type 1 interferonopathy MONDO:MONDO:0700259,MedGen:CN377545 1 1 1.0000 condition_record_support_limited 20 0 1 RNASEH2A-related_type_1_interferonopathy 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RNASEH1 possible_mitochondrial_disorder_nuclear_genes Possible mitochondrial disorder - nuclear genes . 1 1 1.0000 condition_record_support_limited 20 0 1 Possible_mitochondrial_disorder_-_nuclear_genes 6 low_record_burden_interpretation_limited low_record_burden_gene RNASEH1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 6 low_record_burden_interpretation_limited low_record_burden_gene RMP64 mondo_mondo_0030019_medgen_c5394289_omim_618853 Anauxetic dysplasia 3 MONDO:MONDO:0030019,MedGen:C5394289,OMIM:618853 1 1 1.0000 condition_record_support_limited 20 0 0 Anauxetic_dysplasia_3 1 low_record_burden_interpretation_limited low_record_burden_gene RMND5B condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene RMND1 mondo_mondo_0016387_medgen_c5679825_orphanet_223713 Mitochondrial oxidative phosphorylation disorder MONDO:MONDO:0016387,MedGen:C5679825,Orphanet:223713 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_oxidative_phosphorylation_disorder 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RMND1 autosomal_recessive_combined_oxidative_phosphorylation_deficiency_11 Autosomal recessive Combined oxidative phosphorylation deficiency 11 . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_Combined_oxidative_phosphorylation_deficiency_11 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RMND1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RMI1 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 1 low_record_burden_interpretation_limited low_record_burden_gene RLIM mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 12 low_record_burden_interpretation_limited low_record_burden_gene RLIM human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 12 low_record_burden_interpretation_limited low_record_burden_gene RLIG1 human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Rod-cone dystrophy Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 1 1 1.0000 condition_record_support_limited 20 0 1 Rod-cone_dystrophy 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLIG1 human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Micrognathia Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 1.0000 condition_record_support_limited 20 0 1 Micrognathia 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLIG1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLIG1 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLIG1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLIG1 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLBP1 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLBP1 mondo_mondo_0008758_medgen_c0205710_omim_203700_orphanet_726 Progressive sclerosing poliodystrophy MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_sclerosing_poliodystrophy 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RLBP1 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_eye 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIT1 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIT1 human_phenotype_ontology_hp_0010741_medgen_c0239340 Pedal edema Human_Phenotype_Ontology:HP:0010741,MedGen:C0239340 1 1 1.0000 condition_record_support_limited 20 0 1 Pedal_edema 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIT1 mondo_mondo_0011240_medgen_c1865285_omim_602501_orphanet_60040 Megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:MONDO:0011240,MedGen:C1865285,OMIM:602501,Orphanet:60040 1 1 1.0000 condition_record_support_limited 20 0 1 Megalencephaly-capillary_malformation-polymicrogyria_syndrome 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIT1 human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Hypertelorism Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertelorism 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIT1 human_phenotype_ontology_hp_0000494_human_phenotype_ontology_hp_0007714_human_phenotype_ontology_hp_0007908_medgen_c0423110 Downslanted palpebral fissures Human_Phenotype_Ontology:HP:0000494,Human_Phenotype_Ontology:HP:0007714,Human_Phenotype_Ontology:HP:0007908,MedGen:C0423110 1 1 1.0000 condition_record_support_limited 20 0 1 Downslanted_palpebral_fissures 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIT1 mondo_mondo_0005453_medgen_c0152021 Congenital heart disease MONDO:MONDO:0005453,MedGen:C0152021 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_heart_disease 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIPPLY2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene RIPPLY2 mondo_mondo_0008958_medgen_c1859209_omim_214300_orphanet_2345 Klippel-Feil syndrome 2, autosomal recessive MONDO:MONDO:0008958,MedGen:C1859209,OMIM:214300,Orphanet:2345 1 1 1.0000 condition_record_support_limited 20 0 1 Klippel-Feil_syndrome_2,_autosomal_recessive 1 low_record_burden_interpretation_limited low_record_burden_gene RIPK4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene RIPK4 mondo_mondo_0008959_medgen_c0406733_omim_214350_orphanet_1401 Curly hair, ankyloblepharon, nail dysplasia syndrome MONDO:MONDO:0008959,MedGen:C0406733,OMIM:214350,Orphanet:1401 1 1 1.0000 condition_record_support_limited 20 0 0 Curly_hair,_ankyloblepharon,_nail_dysplasia_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene RIPK1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIPK1 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_breast_ovarian_cancer_syndrome 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RINT1 mondo_mondo_0008567_medgen_c4721429_omim_188550 Thyroid cancer, nonmedullary, 1 MONDO:MONDO:0008567,MedGen:C4721429,OMIM:188550 1 1 1.0000 condition_record_support_limited 20 0 1 Thyroid_cancer,_nonmedullary,_1 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RINT1 rint1_related_disorder RINT1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 RINT1-related_disorder 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RINT1 human_phenotype_ontology_hp_0004448_medgen_c5779644 Fulminant hepatic failure Human_Phenotype_Ontology:HP:0004448,MedGen:C5779644 1 1 1.0000 condition_record_support_limited 20 0 1 Fulminant_hepatic_failure 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIN2 rin2_related_disorder RIN2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 RIN2-related_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene RIMS2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene RIMS2 mondo_mondo_0012490_medgen_c4041558_omim_610427_orphanet_215 Cone-rod synaptic disorder, congenital nonprogressive MONDO:MONDO:0012490,MedGen:C4041558,OMIM:610427,Orphanet:215 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_synaptic_disorder,_congenital_nonprogressive 7 low_record_burden_interpretation_limited low_record_burden_gene RIMS1 mondo_mondo_0011355_medgen_c1863634_omim_603649_orphanet_1872 Cone-rod dystrophy 7 MONDO:MONDO:0011355,MedGen:C1863634,OMIM:603649,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 0 Cone-rod_dystrophy_7 2 low_record_burden_interpretation_limited low_record_burden_gene RIMS1 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene RIGI condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene RIGI rigi_related_disorder RIGI-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 RIGI-related_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene RIF1 human_phenotype_ontology_hp_0000369_medgen_c0239234 Low-set ears Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234 1 1 1.0000 condition_record_support_limited 20 0 1 Low-set_ears 500 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIF1 human_phenotype_ontology_hp_0002015_human_phenotype_ontology_hp_0002569_medgen_c0011168 Dysphagia Human_Phenotype_Ontology:HP:0002015,Human_Phenotype_Ontology:HP:0002569,MedGen:C0011168 1 1 1.0000 condition_record_support_limited 20 0 1 Dysphagia 500 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIF1 human_phenotype_ontology_hp_0000464_medgen_c0266623 Abnormality of the neck Human_Phenotype_Ontology:HP:0000464,MedGen:C0266623 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_neck 500 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RIF1 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 500 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RICTOR mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 2 low_record_burden_interpretation_limited low_record_burden_gene RICTOR mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 2 low_record_burden_interpretation_limited low_record_burden_gene RIC1 mondo_mondo_0032901_medgen_c5231492_omim_618761 Catifa syndrome MONDO:MONDO:0032901,MedGen:C5231492,OMIM:618761 1 1 1.0000 condition_record_support_limited 20 0 0 Catifa_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene RHOBTB2 mondo_mondo_0010726_medgen_c0035372_omim_312750_orphanet_3095_orphanet_778 Rett syndrome MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:3095,Orphanet:778 1 1 1.0000 condition_record_support_limited 20 0 1 Rett_syndrome 15 low_record_burden_interpretation_limited low_record_burden_gene RHOBTB2 rhobtb2_related_disorder RHOBTB2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RHOBTB2-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene RHOBTB2 human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 1.0000 condition_record_support_limited 20 0 1 Dystonic_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene RHOBTB2 human_phenotype_ontology_hp_0002072_human_phenotype_ontology_hp_0002397_mondo_mondo_0001595_medgen_c0008489_orphanet_1429 Chorea Human_Phenotype_Ontology:HP:0002072,Human_Phenotype_Ontology:HP:0002397,MONDO:MONDO:0001595,MedGen:C0008489,Orphanet:1429 1 1 1.0000 condition_record_support_limited 20 0 1 Chorea 15 low_record_burden_interpretation_limited low_record_burden_gene RHOA neuro_ectodermal_phenotype neuro-ectodermal phenotype . 1 1 1.0000 condition_record_support_limited 20 0 1 neuro-ectodermal_phenotype 4 low_record_burden_interpretation_limited low_record_burden_gene RHOA condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene RHOA human_phenotype_ontology_hp_0001528_human_phenotype_ontology_hp_0006416_medgen_c0332890 Hemihypertrophy Human_Phenotype_Ontology:HP:0001528,Human_Phenotype_Ontology:HP:0006416,MedGen:C0332890 1 1 1.0000 condition_record_support_limited 20 0 1 Hemihypertrophy 4 low_record_burden_interpretation_limited low_record_burden_gene RHOA ebv_positive_nodal_t_and_nk_cell_lymphoma EBV-positive nodal T- and NK-cell lymphoma . 1 1 1.0000 condition_record_support_limited 20 0 0 EBV-positive_nodal_T-_and_NK-cell_lymphoma 4 low_record_burden_interpretation_limited low_record_burden_gene RHO human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Rod-cone dystrophy Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 1 1 1.0000 condition_record_support_limited 20 0 1 Rod-cone_dystrophy 198 compact_adjacent_exon_block_opportunity local_compact_architecture RHO mondo_mondo_0018877_medgen_c1405854_orphanet_52427 Retinitis punctata albescens MONDO:MONDO:0018877,MedGen:C1405854,Orphanet:52427 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_punctata_albescens 198 compact_adjacent_exon_block_opportunity local_compact_architecture RHO human_phenotype_ontology_hp_0001147_medgen_c0240897 Retinal exudate Human_Phenotype_Ontology:HP:0001147,MedGen:C0240897 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_exudate 198 compact_adjacent_exon_block_opportunity local_compact_architecture RHO human_phenotype_ontology_hp_0000541_human_phenotype_ontology_hp_0007864_human_phenotype_ontology_hp_0008021_mondo_mondo_0008375_medgen_c0035305_omim_180050 Retinal detachment Human_Phenotype_Ontology:HP:0000541,Human_Phenotype_Ontology:HP:0007864,Human_Phenotype_Ontology:HP:0008021,MONDO:MONDO:0008375,MedGen:C0035305,OMIM:180050 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_detachment 198 compact_adjacent_exon_block_opportunity local_compact_architecture RHO human_phenotype_ontology_hp_0000529_human_phenotype_ontology_hp_0000560_human_phenotype_ontology_hp_0007735_human_phenotype_ontology_hp_0007753_human_phenotype_ontology_hp_0007967_medgen_c1839364 Progressive visual loss Human_Phenotype_Ontology:HP:0000529,Human_Phenotype_Ontology:HP:0000560,Human_Phenotype_Ontology:HP:0007735,Human_Phenotype_Ontology:HP:0007753,Human_Phenotype_Ontology:HP:0007967,MedGen:C1839364 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_visual_loss 198 compact_adjacent_exon_block_opportunity local_compact_architecture RHO human_phenotype_ontology_hp_0007994_medgen_c0241688 Peripheral visual field loss Human_Phenotype_Ontology:HP:0007994,MedGen:C0241688 1 1 1.0000 condition_record_support_limited 20 0 1 Peripheral_visual_field_loss 198 compact_adjacent_exon_block_opportunity local_compact_architecture RHO human_phenotype_ontology_hp_0012426_mondo_mondo_0001746_medgen_c0029128 Optic disc drusen Human_Phenotype_Ontology:HP:0012426,MONDO:MONDO:0001746,MedGen:C0029128 1 1 1.0000 condition_record_support_limited 20 0 1 Optic_disc_drusen 198 compact_adjacent_exon_block_opportunity local_compact_architecture RHO human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 1.0000 condition_record_support_limited 20 0 1 Nystagmus 198 compact_adjacent_exon_block_opportunity local_compact_architecture RHO human_phenotype_ontology_hp_0000662_human_phenotype_ontology_hp_0007653_human_phenotype_ontology_hp_0007725_human_phenotype_ontology_hp_0007865_human_phenotype_ontology_hp_0007895_mondo_mondo_0004588_medgen_c0028077 Night blindness Human_Phenotype_Ontology:HP:0000662,Human_Phenotype_Ontology:HP:0007653,Human_Phenotype_Ontology:HP:0007725,Human_Phenotype_Ontology:HP:0007865,Human_Phenotype_Ontology:HP:0007895,MONDO:MONDO:0004588,MedGen:C0028077 1 1 1.0000 condition_record_support_limited 20 0 1 Night_blindness 198 compact_adjacent_exon_block_opportunity local_compact_architecture RHO mondo_mondo_0020765_medgen_c4722277_omim_618184 Neuropathy, congenital hypomyelinating, 2 MONDO:MONDO:0020765,MedGen:C4722277,OMIM:618184 1 1 1.0000 condition_record_support_limited 20 0 0 Neuropathy,_congenital_hypomyelinating,_2 198 compact_adjacent_exon_block_opportunity local_compact_architecture RHO human_phenotype_ontology_hp_0010877_medgen_c4023678 Monocular strabismus Human_Phenotype_Ontology:HP:0010877,MedGen:C4023678 1 1 1.0000 condition_record_support_limited 20 0 1 Monocular_strabismus 198 compact_adjacent_exon_block_opportunity local_compact_architecture RHO mondo_mondo_0014908_medgen_c4310723_omim_617090_orphanet_2512 Microcephaly 17, primary, autosomal recessive MONDO:MONDO:0014908,MedGen:C4310723,OMIM:617090,Orphanet:2512 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly_17,_primary,_autosomal_recessive 198 compact_adjacent_exon_block_opportunity local_compact_architecture RHO human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy 198 compact_adjacent_exon_block_opportunity local_compact_architecture RHO mondo_mondo_0010269_medgen_c5964756_omim_300216_orphanet_190 Coats disease MONDO:MONDO:0010269,MedGen:C5964756,OMIM:300216,Orphanet:190 1 1 1.0000 condition_record_support_limited 20 0 1 Coats_disease 198 compact_adjacent_exon_block_opportunity local_compact_architecture RHO human_phenotype_ontology_hp_0000518_mondo_mondo_0005129_mesh_d002386_medgen_c0086543_omim_ps116200 Cataract Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200 1 1 1.0000 condition_record_support_limited 20 0 1 Cataract 198 compact_adjacent_exon_block_opportunity local_compact_architecture RHO human_phenotype_ontology_hp_0000622_human_phenotype_ontology_hp_0007723_medgen_c0344232 Blurred vision Human_Phenotype_Ontology:HP:0000622,Human_Phenotype_Ontology:HP:0007723,MedGen:C0344232 1 1 1.0000 condition_record_support_limited 20 0 1 Blurred_vision 198 compact_adjacent_exon_block_opportunity local_compact_architecture RHO human_phenotype_ontology_hp_0000618_human_phenotype_ontology_hp_0007839_mondo_mondo_0001941_medgen_c0456909 Blindness Human_Phenotype_Ontology:HP:0000618,Human_Phenotype_Ontology:HP:0007839,MONDO:MONDO:0001941,MedGen:C0456909 1 1 1.0000 condition_record_support_limited 20 0 1 Blindness 198 compact_adjacent_exon_block_opportunity local_compact_architecture RHO medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_retinitis_pigmentosa 198 compact_adjacent_exon_block_opportunity local_compact_architecture RHO medgen_c0339525 Autosomal dominant retinitis pigmentosa MedGen:C0339525 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_retinitis_pigmentosa 198 compact_adjacent_exon_block_opportunity local_compact_architecture RHO human_phenotype_ontology_hp_0007703_human_phenotype_ontology_hp_0007741_human_phenotype_ontology_hp_0007743_human_phenotype_ontology_hp_0008051_medgen_c1862475 Abnormal retinal pigmentation Human_Phenotype_Ontology:HP:0007703,Human_Phenotype_Ontology:HP:0007741,Human_Phenotype_Ontology:HP:0007743,Human_Phenotype_Ontology:HP:0008051,MedGen:C1862475 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_retinal_pigmentation 198 compact_adjacent_exon_block_opportunity local_compact_architecture RHEB human_phenotype_ontology_hp_0032051_mondo_mondo_0011818_medgen_c1846385_omim_607341_orphanet_268994 Isolated focal cortical dysplasia type II Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994 1 1 1.0000 condition_record_support_limited 20 0 0 Isolated_focal_cortical_dysplasia_type_II 6 low_record_burden_interpretation_limited low_record_burden_gene RHEB human_phenotype_ontology_hp_0007206_mondo_mondo_0020492_medgen_c0431391_orphanet_99802 Hemimegalencephaly Human_Phenotype_Ontology:HP:0007206,MONDO:MONDO:0020492,MedGen:C0431391,Orphanet:99802 1 1 1.0000 condition_record_support_limited 20 0 0 Hemimegalencephaly 6 low_record_burden_interpretation_limited low_record_burden_gene RHD medgen_c4551754 RhD negative MedGen:C4551754 1 1 1.0000 condition_record_support_limited 20 0 0 RhD_negative 1 low_record_burden_interpretation_limited low_record_burden_gene RHBDF2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene RHBDF2 mondo_mondo_0007856_medgen_c1835664_omim_148500_orphanet_2198 Palmoplantar keratoderma-esophageal carcinoma syndrome MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500,Orphanet:2198 1 1 1.0000 condition_record_support_limited 20 0 1 Palmoplantar_keratoderma-esophageal_carcinoma_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene RHAG mondo_mondo_0019107_medgen_c0272052_orphanet_71275 Rh deficiency syndrome MONDO:MONDO:0019107,MedGen:C0272052,Orphanet:71275 1 1 1.0000 condition_record_support_limited 20 0 1 Rh_deficiency_syndrome 18 low_record_burden_interpretation_limited low_record_burden_gene RHAG rhag_related_disorder RHAG-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RHAG-related_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene RGS9BP mondo_mondo_0958190_medgen_c5830452_omim_620344 Prolonged electroretinal response suppression 2 MONDO:MONDO:0958190,MedGen:C5830452,OMIM:620344 1 1 1.0000 condition_record_support_limited 20 0 0 Prolonged_electroretinal_response_suppression_2 3 low_record_burden_interpretation_limited low_record_burden_gene RGS9 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 1 Leber_congenital_amaurosis 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RGS2 condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene RGR human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 2 low_record_burden_interpretation_limited low_record_burden_gene RGR human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 2 low_record_burden_interpretation_limited low_record_burden_gene RFXAP mondo_mondo_0971005_medgen_cn377826_omim_209920 MHC class II deficiency 1 MONDO:MONDO:0971005,MedGen:CN377826,OMIM:209920 1 1 1.0000 condition_record_support_limited 20 0 1 MHC_class_II_deficiency_1 27 compact_adjacent_exon_block_opportunity local_compact_architecture RFXANK mondo_mondo_0971014_medgen_c1859536_omim_620816 MHC class II deficiency 3 MONDO:MONDO:0971014,MedGen:C1859536,OMIM:620816 1 1 1.0000 condition_record_support_limited 20 0 1 MHC_class_II_deficiency_3 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RFXANK mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_Immunodeficiency_Diseases 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RFXANK mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RFX7 rfx7_related_disorder RFX7-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 RFX7-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene RFX6 mondo_mondo_0015967_medgen_c3888631_orphanet_183625 Monogenic diabetes MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625 1 1 1.0000 condition_record_support_limited 20 0 0 Monogenic_diabetes 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RFX6 human_phenotype_ontology_hp_0004904_mondo_mondo_0018911_medgen_c0342276_omim_ps125850_orphanet_552 Maturity-onset diabetes of the young Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552 1 1 1.0000 condition_record_support_limited 20 0 0 Maturity-onset_diabetes_of_the_young 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RFX6 human_phenotype_ontology_hp_0000819_human_phenotype_ontology_hp_0004908_human_phenotype_ontology_hp_0008217_human_phenotype_ontology_hp_0008234_human_phenotype_ontology_hp_0008260_mondo_mondo_0005015_medgen_c0011849 Diabetes mellitus Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849 1 1 1.0000 condition_record_support_limited 20 0 1 Diabetes_mellitus 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RFX3 rfx3_associated_neurodevelopmental_disorder RFX3-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 RFX3-associated_neurodevelopmental_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene RFX3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 12 low_record_burden_interpretation_limited low_record_burden_gene RFX3 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene RFWD3 mondo_mondo_0044325_medgen_c4521564_omim_617784 Fanconi anemia, complementation group W MONDO:MONDO:0044325,MedGen:C4521564,OMIM:617784 1 1 1.0000 condition_record_support_limited 20 0 1 Fanconi_anemia,_complementation_group_W 3 low_record_burden_interpretation_limited low_record_burden_gene RFWD3 mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 Fanconi anemia MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 1 1 1.0000 condition_record_support_limited 20 0 0 Fanconi_anemia 3 low_record_burden_interpretation_limited low_record_burden_gene RFC5 luo_agrawal_neurodevelopmental_syndrome LUO-AGRAWAL NEURODEVELOPMENTAL SYNDROME MedGen:CN381043,OMIM:621552 1 1 1.0000 condition_record_support_limited 20 0 0 LUO-AGRAWAL_NEURODEVELOPMENTAL_SYNDROME 1 low_record_burden_interpretation_limited low_record_burden_gene RFC4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene REV3L mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 1 1 1.0000 condition_record_support_limited 20 0 0 Carcinoma_of_colon 3 low_record_burden_interpretation_limited low_record_burden_gene RETREG3 mondo_mondo_0014171_medgen_c3809420_omim_615412 Complex cortical dysplasia with other brain malformations 4 MONDO:MONDO:0014171,MedGen:C3809420,OMIM:615412 1 1 1.0000 condition_record_support_limited 20 0 0 Complex_cortical_dysplasia_with_other_brain_malformations_4 1 low_record_burden_interpretation_limited low_record_burden_gene RET human_phenotype_ontology_hp_0002890_mondo_mondo_0015075_medgen_c0549473_orphanet_100088 Thyroid gland carcinoma Human_Phenotype_Ontology:HP:0002890,MONDO:MONDO:0015075,MedGen:C0549473,Orphanet:100088 1 1 1.0000 condition_record_support_limited 20 0 1 Thyroid_gland_carcinoma 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET medgen_c1833929 Thyroid carcinoma, sporadic medullary MedGen:C1833929 1 1 1.0000 condition_record_support_limited 20 0 1 Thyroid_carcinoma,_sporadic_medullary 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET human_phenotype_ontology_hp_0012471_medgen_c1836543 Thick vermilion border Human_Phenotype_Ontology:HP:0012471,MedGen:C1836543 1 1 1.0000 condition_record_support_limited 20 0 1 Thick_vermilion_border 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET human_phenotype_ontology_hp_0001636_mondo_mondo_0008542_medgen_c0039685_omim_187500_orphanet_3303 Tetralogy of Fallot Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303 1 1 1.0000 condition_record_support_limited 20 0 1 Tetralogy_of_Fallot 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorineural_hearing_loss_disorder 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET mondo_mondo_0024519_medgen_c1619700_omim_191830_orphanet_411709 Renal hypodysplasia/aplasia 1 MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830,Orphanet:411709 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_hypodysplasia/aplasia_1 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET multiple_endocrine_neoplasia_ii Multiple endocrine neoplasia II . 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_endocrine_neoplasia_II 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET mondo_mondo_0017169_medgen_c0027662_omim_ps131100_orphanet_276161 Multiple endocrine neoplasia MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100,Orphanet:276161 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_endocrine_neoplasia 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET medgen_c4016285 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA MedGen:C4016285 1 1 1.0000 condition_record_support_limited 20 0 0 MULTIPLE_ENDOCRINE_NEOPLASIA,_TYPE_IIA,_WITHOUT_PHEOCHROMOCYTOMA 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET human_phenotype_ontology_hp_0001378_human_phenotype_ontology_hp_0001382_human_phenotype_ontology_hp_0005034_medgen_c1844820 Joint hypermobility Human_Phenotype_Ontology:HP:0001378,Human_Phenotype_Ontology:HP:0001382,Human_Phenotype_Ontology:HP:0005034,MedGen:C1844820 1 1 1.0000 condition_record_support_limited 20 0 1 Joint_hypermobility 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET human_phenotype_ontology_hp_0000821_human_phenotype_ontology_hp_0003222_human_phenotype_ontology_hp_0008203_mondo_mondo_0005420_medgen_c0020676 Hypothyroidism Human_Phenotype_Ontology:HP:0000821,Human_Phenotype_Ontology:HP:0003222,Human_Phenotype_Ontology:HP:0008203,MONDO:MONDO:0005420,MedGen:C0020676 1 1 1.0000 condition_record_support_limited 20 0 1 Hypothyroidism 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Hypertelorism Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertelorism 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Hepatocellular carcinoma Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 1 1 1.0000 condition_record_support_limited 20 0 1 Hepatocellular_carcinoma 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET human_phenotype_ontology_hp_0000195_human_phenotype_ontology_hp_0000212_mondo_mondo_0002507_medgen_c0376480 Gingival overgrowth Human_Phenotype_Ontology:HP:0000195,Human_Phenotype_Ontology:HP:0000212,MONDO:MONDO:0002507,MedGen:C0376480 1 1 1.0000 condition_record_support_limited 20 0 1 Gingival_overgrowth 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET human_phenotype_ontology_hp_0002019_human_phenotype_ontology_hp_0002241_human_phenotype_ontology_hp_0003786_mondo_mondo_0002203_medgen_c0009806 Constipation Human_Phenotype_Ontology:HP:0002019,Human_Phenotype_Ontology:HP:0002241,Human_Phenotype_Ontology:HP:0003786,MONDO:MONDO:0002203,MedGen:C0009806 1 1 1.0000 condition_record_support_limited 20 0 1 Constipation 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RET human_phenotype_ontology_hp_0025031_medgen_c0266015 Abnormality of the digestive system Human_Phenotype_Ontology:HP:0025031,MedGen:C0266015 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_digestive_system 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture REST mondo_mondo_0014779_medgen_c3891301_omim_616806_orphanet_654 Wilms tumor 6 MONDO:MONDO:0014779,MedGen:C3891301,OMIM:616806,Orphanet:654 1 1 1.0000 condition_record_support_limited 20 0 1 Wilms_tumor_6 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture REST mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture REST mondo_mondo_0019587_medgen_c5779548_omim_ps124900_orphanet_90635 Autosomal dominant nonsyndromic hearing loss MONDO:MONDO:0019587,MedGen:C5779548,OMIM:PS124900,Orphanet:90635 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_nonsyndromic_hearing_loss 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RERE rere_related_disorder RERE-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 RERE-related_disorder 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RERE mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RERE cerebral_visual_impairment_and_intellectual_disability Cerebral visual impairment and intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_visual_impairment_and_intellectual_disability 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RERE mondo_mondo_0008965_medgen_c0265354_orphanet_138 CHARGE syndrome MONDO:MONDO:0008965,MedGen:C0265354,Orphanet:138 1 1 1.0000 condition_record_support_limited 20 0 1 CHARGE_syndrome 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RERE mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture REPS1 mondo_mondo_0054763_medgen_c4693583_omim_617916 Neurodegeneration with brain iron accumulation 7 MONDO:MONDO:0054763,MedGen:C4693583,OMIM:617916 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodegeneration_with_brain_iron_accumulation_7 1 low_record_burden_interpretation_limited low_record_burden_gene REN mondo_mondo_0001106_medgen_c0035078 Kidney failure MONDO:MONDO:0001106,MedGen:C0035078 1 1 1.0000 condition_record_support_limited 20 0 0 Kidney_failure 23 compact_adjacent_exon_block_opportunity local_compact_architecture REN mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 23 compact_adjacent_exon_block_opportunity local_compact_architecture REN medgen_c4016362 HYPERPRORENINEMIA, FAMILIAL MedGen:C4016362 1 1 1.0000 condition_record_support_limited 20 0 0 HYPERPRORENINEMIA,_FAMILIAL 23 compact_adjacent_exon_block_opportunity local_compact_architecture RELT condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene RELN human_phenotype_ontology_hp_0100769_mondo_mondo_0002400_medgen_c0039103 Synovitis Human_Phenotype_Ontology:HP:0100769,MONDO:MONDO:0002400,MedGen:C0039103 1 1 1.0000 condition_record_support_limited 20 0 1 Synovitis 117 large_gene_or_donor_burden_stress_case donor_burden_stress RELN human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 1.0000 condition_record_support_limited 20 0 1 Scoliosis 117 large_gene_or_donor_burden_stress_case donor_burden_stress RELN human_phenotype_ontology_hp_0012449_medgen_c4022900 Sacroiliac joint synovitis Human_Phenotype_Ontology:HP:0012449,MedGen:C4022900 1 1 1.0000 condition_record_support_limited 20 0 1 Sacroiliac_joint_synovitis 117 large_gene_or_donor_burden_stress_case donor_burden_stress RELN human_phenotype_ontology_hp_0012317_mondo_mondo_0007156_medgen_c0748473_omim_108100 Sacroiliac arthritis Human_Phenotype_Ontology:HP:0012317,MONDO:MONDO:0007156,MedGen:C0748473,OMIM:108100 1 1 1.0000 condition_record_support_limited 20 0 1 Sacroiliac_arthritis 117 large_gene_or_donor_burden_stress_case donor_burden_stress RELN human_phenotype_ontology_hp_0003419_medgen_c0024031 Low back pain Human_Phenotype_Ontology:HP:0003419,MedGen:C0024031 1 1 1.0000 condition_record_support_limited 20 0 1 Low_back_pain 117 large_gene_or_donor_burden_stress_case donor_burden_stress RELN human_phenotype_ontology_hp_0002769_human_phenotype_ontology_hp_0002808_human_phenotype_ontology_hp_0003314_medgen_c0022821 Kyphosis Human_Phenotype_Ontology:HP:0002769,Human_Phenotype_Ontology:HP:0002808,Human_Phenotype_Ontology:HP:0003314,MedGen:C0022821 1 1 1.0000 condition_record_support_limited 20 0 1 Kyphosis 117 large_gene_or_donor_burden_stress_case donor_burden_stress RELN human_phenotype_ontology_hp_0002037_medgen_c0578878 Inflammation of the large intestine Human_Phenotype_Ontology:HP:0002037,MedGen:C0578878 1 1 1.0000 condition_record_support_limited 20 0 1 Inflammation_of_the_large_intestine 117 large_gene_or_donor_burden_stress_case donor_burden_stress RELN human_phenotype_ontology_hp_0100686_mondo_mondo_0024419_medgen_c1282952 Enthesitis Human_Phenotype_Ontology:HP:0100686,MONDO:MONDO:0024419,MedGen:C1282952 1 1 1.0000 condition_record_support_limited 20 0 1 Enthesitis 117 large_gene_or_donor_burden_stress_case donor_burden_stress RELN human_phenotype_ontology_hp_0001369_mondo_mondo_0005578_medgen_c0003864 Arthritis Human_Phenotype_Ontology:HP:0001369,MONDO:MONDO:0005578,MedGen:C0003864 1 1 1.0000 condition_record_support_limited 20 0 1 Arthritis 117 large_gene_or_donor_burden_stress_case donor_burden_stress RELB condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene RELB mondo_mondo_0054696_medgen_c4539811_omim_617585_orphanet_688594 Immunodeficiency 53 MONDO:MONDO:0054696,MedGen:C4539811,OMIM:617585,Orphanet:688594 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_53 2 low_record_burden_interpretation_limited low_record_burden_gene RELA mucocutaneous_ulceration Mucocutaneous ulceration . 1 1 1.0000 condition_record_support_limited 20 0 0 Mucocutaneous_ulceration 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RELA mondo_mondo_0957430_medgen_c0036346_orphanet_641496 Childhood-onset schizophrenia MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 1.0000 condition_record_support_limited 20 0 0 Childhood-onset_schizophrenia 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture REEP6 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture REEP6 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture REEP6 medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_retinitis_pigmentosa 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture REEP1 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture REDIC1 mondo_mondo_0004983_medgen_c3553794_omim_ps258150 Spermatogenic Failure MONDO:MONDO:0004983,MedGen:C3553794,OMIM:PS258150 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_Failure 1 low_record_burden_interpretation_limited low_record_burden_gene RECQL4 susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 385 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RECQL4 mondo_mondo_0002142_medgen_c0334463_orphanet_2023 Malignant fibrous histiocytoma MONDO:MONDO:0002142,MedGen:C0334463,Orphanet:2023 1 1 1.0000 condition_record_support_limited 20 0 1 Malignant_fibrous_histiocytoma 385 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RECQL4 mondo_mondo_0006246_medgen_c1266165 High grade surface osteosarcoma MONDO:MONDO:0006246,MedGen:C1266165 1 1 1.0000 condition_record_support_limited 20 0 1 High_grade_surface_osteosarcoma 385 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RECQL4 mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_cancer_of_breast 385 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RECQL4 mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 Ehlers-Danlos syndrome MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 1 1 1.0000 condition_record_support_limited 20 0 1 Ehlers-Danlos_syndrome 385 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RECQL4 medgen_c2698314 B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) MedGen:C2698314 1 1 1.0000 condition_record_support_limited 20 0 1 B_lymphoblastic_leukemia_lymphoma_with_t(12%3B21)(p13%3Bq22)%3B_TEL-AML1_(ETV6-RUNX1) 385 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RECQL mondo_mondo_0004992_medgen_c0006826 Malignant neoplastic disease MONDO:MONDO:0004992,MedGen:C0006826 1 1 1.0000 condition_record_support_limited 20 0 0 Malignant_neoplastic_disease 9 low_record_burden_interpretation_limited low_record_burden_gene REC8 human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Azoospermia Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 1.0000 condition_record_support_limited 20 0 0 Azoospermia 3 low_record_burden_interpretation_limited low_record_burden_gene RDX medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RDX mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 1.0000 condition_record_support_limited 20 0 0 Nonsyndromic_genetic_hearing_loss 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RDH8 mondo_mondo_0980722_medgen_c6012746_omim_621259 Stargardt disease 5 MONDO:MONDO:0980722,MedGen:C6012746,OMIM:621259 1 1 1.0000 condition_record_support_limited 20 0 0 Stargardt_disease_5 1 low_record_burden_interpretation_limited low_record_burden_gene RDH5 rdh5_related_disorder RDH5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RDH5-related_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RDH14 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene RDH14 human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Cerebellar atrophy Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_atrophy 1 low_record_burden_interpretation_limited low_record_burden_gene RDH12 mondo_mondo_0019353_medgen_c0271093_orphanet_827 Stargardt disease MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827 1 1 1.0000 condition_record_support_limited 20 0 0 Stargardt_disease 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RDH11 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 9 low_record_burden_interpretation_limited low_record_burden_gene RD3 rd3_related_disorder RD3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RD3-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene RD3 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 1 Leber_congenital_amaurosis 14 low_record_burden_interpretation_limited low_record_burden_gene RD3 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_eye 14 low_record_burden_interpretation_limited low_record_burden_gene RCOR1 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 1 1 1.0000 condition_record_support_limited 20 0 0 Joubert_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene RCL1 human_phenotype_ontology_hp_0000709_mondo_mondo_0005485_medgen_c0033975 Psychotic disorder Human_Phenotype_Ontology:HP:0000709,MONDO:MONDO:0005485,MedGen:C0033975 1 1 1.0000 condition_record_support_limited 20 0 0 Psychotic_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene RCHY1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 1 low_record_burden_interpretation_limited low_record_burden_gene RCBTB1 retinal_dystrophy_with_extraocular_anomalies RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES . 1 1 1.0000 condition_record_support_limited 20 0 1 RETINAL_DYSTROPHY_WITH_EXTRAOCULAR_ANOMALIES 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RCBTB1 rcbtb1_related_disorder RCBTB1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RCBTB1-related_disorder 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RCBTB1 mondo_mondo_0019516_mesh_d000080345_medgen_c0339539_omim_ps133780_orphanet_891 Familial exudative vitreoretinopathy MONDO:MONDO:0019516,MeSH:D000080345,MedGen:C0339539,OMIM:PS133780,Orphanet:891 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_exudative_vitreoretinopathy 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RC3H1 mondo_mondo_0033557_medgen_c5436563_omim_618998 Hemophagocytic lymphohistiocytosis, familial, 6 MONDO:MONDO:0033557,MedGen:C5436563,OMIM:618998 1 1 1.0000 condition_record_support_limited 20 0 0 Hemophagocytic_lymphohistiocytosis,_familial,_6 1 low_record_burden_interpretation_limited low_record_burden_gene RBSN mondo_mondo_0975797_medgen_c5975380_omim_620939 Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities MONDO:MONDO:0975797,MedGen:C5975380,OMIM:620939 1 1 1.0000 condition_record_support_limited 20 0 0 Myelofibrosis,_congenital,_with_anemia,_neutropenia,_developmental_delay,_and_ocular_abnormalities 3 low_record_burden_interpretation_limited low_record_burden_gene RBPJ human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Type 2 diabetes mellitus Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 1 1 1.0000 condition_record_support_limited 20 0 1 Type_2_diabetes_mellitus 7 low_record_burden_interpretation_limited low_record_burden_gene RBPJ mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 7 low_record_burden_interpretation_limited low_record_burden_gene RBP4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 19 low_record_burden_interpretation_limited low_record_burden_gene RBP4 human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Congenital ocular coloboma Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_ocular_coloboma 19 low_record_burden_interpretation_limited low_record_burden_gene RBP4 human_phenotype_ontology_hp_0007696_human_phenotype_ontology_hp_0007699_human_phenotype_ontology_hp_0007700_human_phenotype_ontology_hp_0008040_mondo_mondo_0019503_medgen_c1862839_omim_ps107250_orphanet_88632 Anterior segment dysgenesis Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632 1 1 1.0000 condition_record_support_limited 20 0 0 Anterior_segment_dysgenesis 19 low_record_burden_interpretation_limited low_record_burden_gene RBP4 human_phenotype_ontology_hp_0000528_human_phenotype_ontology_hp_0001485_human_phenotype_ontology_hp_0007664_medgen_c0003119 Anophthalmia Human_Phenotype_Ontology:HP:0000528,Human_Phenotype_Ontology:HP:0001485,Human_Phenotype_Ontology:HP:0007664,MedGen:C0003119 1 1 1.0000 condition_record_support_limited 20 0 0 Anophthalmia 19 low_record_burden_interpretation_limited low_record_burden_gene RBP4 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_eye 19 low_record_burden_interpretation_limited low_record_burden_gene RBP3 rbp3_related_disorder RBP3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 RBP3-related_disorder 41 compact_adjacent_exon_block_opportunity local_compact_architecture RBP3 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 0 Cone-rod_dystrophy 41 compact_adjacent_exon_block_opportunity local_compact_architecture RBP3 medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_retinitis_pigmentosa 41 compact_adjacent_exon_block_opportunity local_compact_architecture RBMX mondo_mondo_0010277_medgen_c1846145_omim_300238_orphanet_85286 Syndromic X-linked intellectual disability Shashi type MONDO:MONDO:0010277,MedGen:C1846145,OMIM:300238,Orphanet:85286 1 1 1.0000 condition_record_support_limited 20 0 0 Syndromic_X-linked_intellectual_disability_Shashi_type 10 low_record_burden_interpretation_limited low_record_burden_gene RBM8A rbm8a_related_disorder RBM8A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RBM8A-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene RBM8A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene RBM8A human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 11 low_record_burden_interpretation_limited low_record_burden_gene RBM8A human_phenotype_ontology_hp_0001158_human_phenotype_ontology_hp_0001588_human_phenotype_ontology_hp_0004209_human_phenotype_ontology_hp_0004212_human_phenotype_ontology_hp_0006083_human_phenotype_ontology_hp_0006181_human_phenotype_ontology_hp_0009181_medgen_c1850049 Clinodactyly of the 5th finger Human_Phenotype_Ontology:HP:0001158,Human_Phenotype_Ontology:HP:0001588,Human_Phenotype_Ontology:HP:0004209,Human_Phenotype_Ontology:HP:0004212,Human_Phenotype_Ontology:HP:0006083,Human_Phenotype_Ontology:HP:0006181,Human_Phenotype_Ontology:HP:0009181,MedGen:C1850049 1 1 1.0000 condition_record_support_limited 20 0 1 Clinodactyly_of_the_5th_finger 11 low_record_burden_interpretation_limited low_record_burden_gene RBM8A human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_morphology 11 low_record_burden_interpretation_limited low_record_burden_gene RBM5 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 1 low_record_burden_interpretation_limited low_record_burden_gene RBM48 human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Nephronophthisis Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 1 1 1.0000 condition_record_support_limited 20 0 0 Nephronophthisis 1 low_record_burden_interpretation_limited low_record_burden_gene RBM20 human_phenotype_ontology_hp_0011664_medgen_c4021133 Left ventricular noncompaction cardiomyopathy Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 1 1 1.0000 condition_record_support_limited 20 0 1 Left_ventricular_noncompaction_cardiomyopathy 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBM20 mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 Dilated cardiomyopathy 1A MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 1 1 1.0000 condition_record_support_limited 20 0 1 Dilated_cardiomyopathy_1A 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBM10 rbm10_related_disorder RBM10-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 RBM10-related_disorder 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBM10 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBFOX3 mondo_mondo_0007295_medgen_c0376532_orphanet_1945 Self-limited epilepsy with centrotemporal spikes MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 1 1 1.0000 condition_record_support_limited 20 0 0 Self-limited_epilepsy_with_centrotemporal_spikes 1 low_record_burden_interpretation_limited low_record_burden_gene RBFOX1 condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene RBFOX1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 4 low_record_burden_interpretation_limited low_record_burden_gene RBFOX1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 4 low_record_burden_interpretation_limited low_record_burden_gene RBFOX1 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 4 low_record_burden_interpretation_limited low_record_burden_gene RBCK1 susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBCK1 rbck1_related_disorder RBCK1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 RBCK1-related_disorder 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBCK1 polyglucosanbody_myopathy_typ_1 Polyglucosanbody Myopathy Typ 1 . 1 1 1.0000 condition_record_support_limited 20 0 0 Polyglucosanbody_Myopathy_Typ_1 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBCK1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RBBP7 mondo_mondo_0976123_medgen_c5974893_omim_301137 Spermatogenic failure, X-linked, 9 MONDO:MONDO:0976123,MedGen:C5974893,OMIM:301137 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure,_X-linked,_9 1 low_record_burden_interpretation_limited low_record_burden_gene RBBP5 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene RBBP5 rbbp5_related_syndromic_neurodevelopmental_condition RBBP5-related syndromic neurodevelopmental condition . 1 1 1.0000 condition_record_support_limited 20 0 0 RBBP5-related_syndromic_neurodevelopmental_condition 2 low_record_burden_interpretation_limited low_record_burden_gene RB1CC1 mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_cancer_of_breast 1 low_record_burden_interpretation_limited low_record_burden_gene RB1 mondo_mondo_0014765_medgen_c4225214_omim_616760_orphanet_170 Wooly hair, autosomal recessive 3 MONDO:MONDO:0014765,MedGen:C4225214,OMIM:616760,Orphanet:170 1 1 1.0000 condition_record_support_limited 20 0 1 Wooly_hair,_autosomal_recessive_3 947 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RB1 mondo_mondo_0003073_medgen_c2608045 Trilateral retinoblastoma MONDO:MONDO:0003073,MedGen:C2608045 1 1 1.0000 condition_record_support_limited 20 0 1 Trilateral_retinoblastoma 947 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RB1 human_phenotype_ontology_hp_0002860_mondo_mondo_0005096_mesh_d002294_medgen_c0007137 Squamous cell carcinoma Human_Phenotype_Ontology:HP:0002860,MONDO:MONDO:0005096,MeSH:D002294,MedGen:C0007137 1 1 1.0000 condition_record_support_limited 20 0 0 Squamous_cell_carcinoma 947 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RB1 human_phenotype_ontology_hp_0030078_mondo_mondo_0005061_mesh_d000077192_medgen_c0152013 Lung adenocarcinoma Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013 1 1 1.0000 condition_record_support_limited 20 0 0 Lung_adenocarcinoma 947 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RASSF1 mondo_mondo_0014192_medgen_c3809543_omim_615444_orphanet_244 Primary ciliary dyskinesia 22 MONDO:MONDO:0014192,MedGen:C3809543,OMIM:615444,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_ciliary_dyskinesia_22 1 low_record_burden_interpretation_limited low_record_burden_gene RASL12 human_phenotype_ontology_hp_0002014_medgen_c0011991 Diarrhea Human_Phenotype_Ontology:HP:0002014,MedGen:C0011991 1 1 1.0000 condition_record_support_limited 20 0 1 Diarrhea 1 low_record_burden_interpretation_limited low_record_burden_gene RASL12 human_phenotype_ontology_hp_0001396_mondo_mondo_0001751_medgen_c0008370 Cholestasis Human_Phenotype_Ontology:HP:0001396,MONDO:MONDO:0001751,MedGen:C0008370 1 1 1.0000 condition_record_support_limited 20 0 1 Cholestasis 1 low_record_burden_interpretation_limited low_record_burden_gene RASL12 mondo_mondo_0859180_medgen_c5561962_omim_619481 Bile acid malabsorption, primary, 2 MONDO:MONDO:0859180,MedGen:C5561962,OMIM:619481 1 1 1.0000 condition_record_support_limited 20 0 1 Bile_acid_malabsorption,_primary,_2 1 low_record_burden_interpretation_limited low_record_burden_gene RASGRP2 human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_bleeding 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RASA2 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 Noonan syndrome 1 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 1 1 1.0000 condition_record_support_limited 20 0 0 Noonan_syndrome_1 1 low_record_burden_interpretation_limited low_record_burden_gene RASA1 gene_4183_mondo_mondo_0010758_medgen_c0796200_omim_314580_orphanet_3454_orphanet_85283 Wieacker-Wolff syndrome Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580,Orphanet:3454,Orphanet:85283 1 1 1.0000 condition_record_support_limited 20 0 0 Wieacker-Wolff_syndrome 285 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RASA1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 285 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RASA1 mondo_mondo_0019180_medgen_c0039445_omim_ps187300_orphanet_774 Hereditary hemorrhagic telangiectasia MONDO:MONDO:0019180,MedGen:C0039445,OMIM:PS187300,Orphanet:774 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_hemorrhagic_telangiectasia 285 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RASA1 mondo_mondo_0007414_medgen_c0029438_omim_123880_orphanet_73 Gorham-Stout disease MONDO:MONDO:0007414,MedGen:C0029438,OMIM:123880,Orphanet:73 1 1 1.0000 condition_record_support_limited 20 0 1 Gorham-Stout_disease 285 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RASA1 human_phenotype_ontology_hp_0025104_mondo_mondo_0016231_medgen_c0340803_orphanet_211247 Capillary malformation Human_Phenotype_Ontology:HP:0025104,MONDO:MONDO:0016231,MedGen:C0340803,Orphanet:211247 1 1 1.0000 condition_record_support_limited 20 0 0 Capillary_malformation 285 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RASA1 mondo_mondo_0011191_medgen_c1865871_omim_602089 Capillary infantile hemangioma MONDO:MONDO:0011191,MedGen:C1865871,OMIM:602089 1 1 1.0000 condition_record_support_limited 20 0 0 Capillary_infantile_hemangioma 285 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RARS2 rars2_related_disorder RARS2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RARS2-related_disorder 242 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RARS2 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_disease 242 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RARS2 mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cerebellar_hypoplasia 242 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RARS1 rars1_related_disorder RARS1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 RARS1-related_disorder 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RARS1 human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Leukodystrophy Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 1.0000 condition_record_support_limited 20 0 1 Leukodystrophy 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RARB human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Congenital ocular coloboma Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_ocular_coloboma 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAPSN mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAPSN mondo_mondo_0012157_medgen_c1837091_omim_608931_orphanet_590 Congenital myasthenic syndrome 4C MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orphanet:590 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myasthenic_syndrome_4C 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAPSN human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAPGEF5 mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 Dilated cardiomyopathy 1A MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 1 1 1.0000 condition_record_support_limited 20 0 0 Dilated_cardiomyopathy_1A 1 low_record_burden_interpretation_limited low_record_burden_gene RAP1B condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 1 See_cases 6 low_record_burden_interpretation_limited low_record_burden_gene RANBP2 human_phenotype_ontology_hp_0000677_human_phenotype_ontology_hp_0000702_medgen_c4082304 Oligodontia Human_Phenotype_Ontology:HP:0000677,Human_Phenotype_Ontology:HP:0000702,MedGen:C4082304 1 1 1.0000 condition_record_support_limited 20 0 1 Oligodontia 96 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RANBP2 mondo_mondo_0013983_medgen_c3539920_omim_614941_orphanet_238468_orphanet_248 Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive MONDO:MONDO:0013983,MedGen:C3539920,OMIM:614941,Orphanet:238468,Orphanet:248 1 1 1.0000 condition_record_support_limited 20 0 1 Ectodermal_dysplasia_11B,_hypohidrotic/hair/tooth_type,_autosomal_recessive 96 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RANBP2 edar_related_disorder EDAR-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 EDAR-related_disorder 96 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RALGAPB human_phenotype_ontology_hp_0100842_mondo_mondo_0008428_medgen_c0338503_omim_182230_orphanet_3157 Septo-optic dysplasia sequence Human_Phenotype_Ontology:HP:0100842,MONDO:MONDO:0008428,MedGen:C0338503,OMIM:182230,Orphanet:3157 1 1 1.0000 condition_record_support_limited 20 0 0 Septo-optic_dysplasia_sequence 2 low_record_burden_interpretation_limited low_record_burden_gene RALGAPB human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 2 low_record_burden_interpretation_limited low_record_burden_gene RALGAPA1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 12 low_record_burden_interpretation_limited low_record_burden_gene RALA human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 13 low_record_burden_interpretation_limited low_record_burden_gene RALA human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 13 low_record_burden_interpretation_limited low_record_burden_gene RALA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 13 low_record_burden_interpretation_limited low_record_burden_gene RAI1 mondo_mondo_0000508_medgen_c5680525_orphanet_183763 Syndromic intellectual disability MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 1.0000 condition_record_support_limited 20 0 0 Syndromic_intellectual_disability 161 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RAI1 medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_intellectual_disability 161 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RAI1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 161 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RAI1 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_disorder 161 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture RAG2 mondo_mondo_0011449_medgen_c1096903_omim_604369_orphanet_309334_orphanet_834 Salla disease MONDO:MONDO:0011449,MedGen:C1096903,OMIM:604369,Orphanet:309334,Orphanet:834 1 1 1.0000 condition_record_support_limited 20 0 1 Salla_disease 147 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAG1 mondo_mondo_0014368_medgen_c4014476_omim_615848_orphanet_618 Tumor predisposition syndrome 3 MONDO:MONDO:0014368,MedGen:C4014476,OMIM:615848,Orphanet:618 1 1 1.0000 condition_record_support_limited 20 0 1 Tumor_predisposition_syndrome_3 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAG1 mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_Immunodeficiency_Diseases 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAF1 mondo_mondo_0012371_medgen_c1860991_omim_609942_orphanet_648 Noonan syndrome 3 MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648 1 1 1.0000 condition_record_support_limited 20 0 1 Noonan_syndrome_3 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAF1 monogenic_short_statue Monogenic short statue . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_short_statue 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAF1 human_phenotype_ontology_hp_0011664_medgen_c4021133 Left ventricular noncompaction cardiomyopathy Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 1 1 1.0000 condition_record_support_limited 20 0 0 Left_ventricular_noncompaction_cardiomyopathy 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAF1 mondo_mondo_0008647_medgen_c3495498_omim_192600 Hypertrophic cardiomyopathy 1 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrophic_cardiomyopathy_1 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD54L2 top2_deficiency_type_1 TOP2 deficiency type 1 . 1 1 1.0000 condition_record_support_limited 20 0 0 TOP2_deficiency_type_1 1 low_record_burden_interpretation_limited low_record_burden_gene RAD54L mondo_mondo_0858959_medgen_c5556330 Polymorphous low grade neuroepithelial tumor of the young MONDO:MONDO:0858959,MedGen:C5556330 1 1 1.0000 condition_record_support_limited 20 0 1 Polymorphous_low_grade_neuroepithelial_tumor_of_the_young 9 low_record_burden_interpretation_limited low_record_burden_gene RAD54L human_phenotype_ontology_hp_0012539_mondo_mondo_0018908_medgen_c0024305_orphanet_547 Non-Hodgkin lymphoma Human_Phenotype_Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547 1 1 1.0000 condition_record_support_limited 20 0 0 Non-Hodgkin_lymphoma 9 low_record_burden_interpretation_limited low_record_burden_gene RAD54L mondo_mondo_0011508_medgen_c4721532_omim_605027 Lymphoma, non-Hodgkin, familial MONDO:MONDO:0011508,MedGen:C4721532,OMIM:605027 1 1 1.0000 condition_record_support_limited 20 0 0 Lymphoma,_non-Hodgkin,_familial 9 low_record_burden_interpretation_limited low_record_burden_gene RAD54L mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_cancer_of_breast 9 low_record_burden_interpretation_limited low_record_burden_gene RAD54L human_phenotype_ontology_hp_0040276_mondo_mondo_0002271_medgen_c0338106 Colon adenocarcinoma Human_Phenotype_Ontology:HP:0040276,MONDO:MONDO:0002271,MedGen:C0338106 1 1 1.0000 condition_record_support_limited 20 0 0 Colon_adenocarcinoma 9 low_record_burden_interpretation_limited low_record_burden_gene RAD54L mondo_mondo_0005590_medgen_c1527349 Breast ductal adenocarcinoma MONDO:MONDO:0005590,MedGen:C1527349 1 1 1.0000 condition_record_support_limited 20 0 0 Breast_ductal_adenocarcinoma 9 low_record_burden_interpretation_limited low_record_burden_gene RAD54B condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene RAD54B mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 1 1 1.0000 condition_record_support_limited 20 0 0 Carcinoma_of_colon 2 low_record_burden_interpretation_limited low_record_burden_gene RAD51D rad51d_related_disorder RAD51D-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RAD51D-related_disorder 245 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51D mondo_mondo_0013131_medgen_c2751306_omim_613095 Polycystic kidney disease 2 MONDO:MONDO:0013131,MedGen:C2751306,OMIM:613095 1 1 1.0000 condition_record_support_limited 20 0 1 Polycystic_kidney_disease_2 245 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51D mondo_mondo_0016249_medgen_cn278678 Hereditary site-specific ovarian cancer syndrome MONDO:MONDO:0016249,MedGen:CN278678 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_site-specific_ovarian_cancer_syndrome 245 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51D mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_cancer_of_breast 245 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51D mondo_mondo_1060171_medgen_c5669877 Diffuse midline glioma, H3 K27-altered MONDO:MONDO:1060171,MedGen:C5669877 1 1 1.0000 condition_record_support_limited 20 0 1 Diffuse_midline_glioma,_H3_K27-altered 245 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51D mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 1 Colorectal_cancer 245 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51D human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 1 1 1.0000 condition_record_support_limited 20 0 1 Breast_carcinoma 245 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51C mondo_mondo_0006003_medgen_cn277893 Uterine corpus cancer MONDO:MONDO:0006003,MedGen:CN277893 1 1 1.0000 condition_record_support_limited 20 0 1 Uterine_corpus_cancer 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51C mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 1.0000 condition_record_support_limited 20 0 1 Long_QT_syndrome 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51C medgen_c1333600 Hereditary cancer MedGen:C1333600 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51C mondo_mondo_0100514_medgen_c1333992 Familial ovarian carcinoma MONDO:MONDO:0100514,MedGen:C1333992 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_ovarian_carcinoma 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51C human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Endometrial carcinoma Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 1 1 1.0000 condition_record_support_limited 20 0 1 Endometrial_carcinoma 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51C mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 1 1 1.0000 condition_record_support_limited 20 0 1 Carcinoma_of_colon 322 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control RAD51B rad51b_related_cancer_predisposition RAD51B-related cancer predisposition . 1 1 1.0000 condition_record_support_limited 20 0 0 RAD51B-related_cancer_predisposition 1 low_record_burden_interpretation_limited low_record_burden_gene RAD51AP2 mondo_mondo_0957821_medgen_c5882706_omim_620547 Spermatogenic failure 88 MONDO:MONDO:0957821,MedGen:C5882706,OMIM:620547 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_88 1 low_record_burden_interpretation_limited low_record_burden_gene RAD51 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 13 low_record_burden_interpretation_limited low_record_burden_gene RAD51 mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_cancer_of_breast 13 low_record_burden_interpretation_limited low_record_burden_gene RAD50 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 483 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD50 human_phenotype_ontology_hp_0008069_mondo_mondo_0002531_medgen_c0037286 Neoplasm of the skin Human_Phenotype_Ontology:HP:0008069,MONDO:MONDO:0002531,MedGen:C0037286 1 1 1.0000 condition_record_support_limited 20 0 1 Neoplasm_of_the_skin 483 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD50 human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 1 1 1.0000 condition_record_support_limited 20 0 1 Breast_carcinoma 483 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD21L1 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 1.0000 condition_record_support_limited 20 0 0 Non-obstructive_azoospermia 1 low_record_burden_interpretation_limited low_record_burden_gene RAD21 gene_100126595_mondo_mondo_0012657_medgen_c1969653_omim_611376 Mungan syndrome Gene:100126595,MONDO:MONDO:0012657,MedGen:C1969653,OMIM:611376 1 1 1.0000 condition_record_support_limited 20 0 0 Mungan_syndrome 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD21 mondo_mondo_0016033_medgen_c0270972_omim_ps122470_orphanet_199 De Lange syndrome MONDO:MONDO:0016033,MedGen:C0270972,OMIM:PS122470,Orphanet:199 1 1 1.0000 condition_record_support_limited 20 0 0 De_Lange_syndrome 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD21 mondo_mondo_0007387_medgen_c4551851_omim_122470_orphanet_199 Cornelia de Lange syndrome 1 MONDO:MONDO:0007387,MedGen:C4551851,OMIM:122470,Orphanet:199 1 1 1.0000 condition_record_support_limited 20 0 0 Cornelia_de_Lange_syndrome_1 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAD21 mondo_mondo_0020526_medgen_c5925108_orphanet_99887 Acute megakaryoblastic leukemia in down syndrome MONDO:MONDO:0020526,MedGen:C5925108,Orphanet:99887 1 1 1.0000 condition_record_support_limited 20 0 0 Acute_megakaryoblastic_leukemia_in_down_syndrome 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAC1 mondo_mondo_0060596_medgen_c4540327_omim_617755_orphanet_686482 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies MONDO:MONDO:0060596,MedGen:C4540327,OMIM:617755,Orphanet:686482 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_dysmorphic_facies_and_distal_limb_anomalies 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAC1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAC1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RABGAP1L human_phenotype_ontology_hp_0009797_mondo_mondo_0006530_medgen_c0008373 Cholesteatoma Human_Phenotype_Ontology:HP:0009797,MONDO:MONDO:0006530,MedGen:C0008373 1 1 1.0000 condition_record_support_limited 20 0 0 Cholesteatoma 1 low_record_burden_interpretation_limited low_record_burden_gene RABGAP1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene RABGAP1 neurodevelopmental_disorder_rabgap1_related Neurodevelopmental disorder, RABGAP1-related . 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder,_RABGAP1-related 2 low_record_burden_interpretation_limited low_record_burden_gene RAB9B human_phenotype_ontology_hp_0001257_medgen_c0026838 Spasticity Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 1 1 1.0000 condition_record_support_limited 20 0 0 Spasticity 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB9B medgen_c4016484 Pelizaeus-Merzbacher disease, mild MedGen:C4016484 1 1 1.0000 condition_record_support_limited 20 0 1 Pelizaeus-Merzbacher_disease,_mild 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB9B human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB9B mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB9B medgen_c2732267 Auditory neuropathy spectrum disorder MedGen:C2732267 1 1 1.0000 condition_record_support_limited 20 0 0 Auditory_neuropathy_spectrum_disorder 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB5IF human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 1.0000 condition_record_support_limited 20 0 1 Scoliosis 1 low_record_burden_interpretation_limited low_record_burden_gene RAB5IF human_phenotype_ontology_hp_0000880_human_phenotype_ontology_hp_0000902_medgen_c0265695 Rib fusion Human_Phenotype_Ontology:HP:0000880,Human_Phenotype_Ontology:HP:0000902,MedGen:C0265695 1 1 1.0000 condition_record_support_limited 20 0 1 Rib_fusion 1 low_record_burden_interpretation_limited low_record_burden_gene RAB5IF human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Micrognathia Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 1.0000 condition_record_support_limited 20 0 1 Micrognathia 1 low_record_burden_interpretation_limited low_record_burden_gene RAB5IF human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 1 low_record_burden_interpretation_limited low_record_burden_gene RAB5IF human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene RAB5IF human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Hypertelorism Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertelorism 1 low_record_burden_interpretation_limited low_record_burden_gene RAB5IF human_phenotype_ontology_hp_0012368_medgen_c1853241 Flat face Human_Phenotype_Ontology:HP:0012368,MedGen:C1853241 1 1 1.0000 condition_record_support_limited 20 0 1 Flat_face 1 low_record_burden_interpretation_limited low_record_burden_gene RAB5IF mondo_mondo_0859567_medgen_c5676895_omim_616994 Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 MONDO:MONDO:0859567,MedGen:C5676895,OMIM:616994 1 1 1.0000 condition_record_support_limited 20 0 1 Craniofacial_dysmorphism,_skeletal_anomalies,_and_impaired_intellectual_development_syndrome_2 1 low_record_burden_interpretation_limited low_record_burden_gene RAB5IF mondo_mondo_0800436_medgen_c5677021_omim_213980_orphanet_1394 Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 MONDO:MONDO:0800436,MedGen:C5677021,OMIM:213980,Orphanet:1394 1 1 1.0000 condition_record_support_limited 20 0 1 Craniofacial_dysmorphism,_skeletal_anomalies,_and_impaired_intellectual_development_1 1 low_record_burden_interpretation_limited low_record_burden_gene RAB5IF human_phenotype_ontology_hp_0002744_medgen_c1398522 Bilateral cleft lip and palate Human_Phenotype_Ontology:HP:0002744,MedGen:C1398522 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_cleft_lip_and_palate 1 low_record_burden_interpretation_limited low_record_burden_gene RAB5IF human_phenotype_ontology_hp_0000892_medgen_c4721788 Bifid ribs Human_Phenotype_Ontology:HP:0000892,MedGen:C4721788 1 1 1.0000 condition_record_support_limited 20 0 1 Bifid_ribs 1 low_record_burden_interpretation_limited low_record_burden_gene RAB5IF human_phenotype_ontology_hp_0000925_medgen_c4021789 Abnormality of the vertebral column Human_Phenotype_Ontology:HP:0000925,MedGen:C4021789 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_vertebral_column 1 low_record_burden_interpretation_limited low_record_burden_gene RAB3GAP2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP2 human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Esophageal atresia/tracheoesophageal fistula Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 1.0000 condition_record_support_limited 20 0 0 Esophageal_atresia/tracheoesophageal_fistula 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP1 mondo_mondo_0016649_medgen_c5442005_omim_ps600118_orphanet_2510 Warburg micro syndrome MONDO:MONDO:0016649,MedGen:C5442005,OMIM:PS600118,Orphanet:2510 1 1 1.0000 condition_record_support_limited 20 0 0 Warburg_micro_syndrome 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP1 human_phenotype_ontology_hp_0002944_human_phenotype_ontology_hp_0004567_human_phenotype_ontology_hp_0004585_medgen_c0749379 Thoracolumbar scoliosis Human_Phenotype_Ontology:HP:0002944,Human_Phenotype_Ontology:HP:0004567,Human_Phenotype_Ontology:HP:0004585,MedGen:C0749379 1 1 1.0000 condition_record_support_limited 20 0 1 Thoracolumbar_scoliosis 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP1 human_phenotype_ontology_hp_0001257_medgen_c0026838 Spasticity Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 1 1 1.0000 condition_record_support_limited 20 0 1 Spasticity 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP1 human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP1 human_phenotype_ontology_hp_0002063_medgen_c0026837 Rigidity Human_Phenotype_Ontology:HP:0002063,MedGen:C0026837 1 1 1.0000 condition_record_support_limited 20 0 1 Rigidity 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP1 human_phenotype_ontology_hp_0001294_human_phenotype_ontology_hp_0100022_mondo_mondo_0005395_medgen_c0026650 Movement disorder Human_Phenotype_Ontology:HP:0001294,Human_Phenotype_Ontology:HP:0100022,MONDO:MONDO:0005395,MedGen:C0026650 1 1 1.0000 condition_record_support_limited 20 0 1 Movement_disorder 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP1 mondo_mondo_0023910_medgen_c0796037_omim_ps212720_orphanet_1387 Martsolf syndrome MONDO:MONDO:0023910,MedGen:C0796037,OMIM:PS212720,Orphanet:1387 1 1 1.0000 condition_record_support_limited 20 0 1 Martsolf_syndrome 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP1 human_phenotype_ontology_hp_0000369_medgen_c0239234 Low-set ears Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234 1 1 1.0000 condition_record_support_limited 20 0 1 Low-set_ears 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP1 human_phenotype_ontology_hp_0009062_medgen_c3806604 Infantile axial hypotonia Human_Phenotype_Ontology:HP:0009062,MedGen:C3806604 1 1 1.0000 condition_record_support_limited 20 0 1 Infantile_axial_hypotonia 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP1 human_phenotype_ontology_hp_0000998_mondo_mondo_0019280_medgen_c0020555_orphanet_79365 Hypertrichosis Human_Phenotype_Ontology:HP:0000998,MONDO:MONDO:0019280,MedGen:C0020555,Orphanet:79365 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrichosis 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP1 human_phenotype_ontology_hp_0003868_medgen_c4025542 Humeral cortical thickening Human_Phenotype_Ontology:HP:0003868,MedGen:C4025542 1 1 1.0000 condition_record_support_limited 20 0 1 Humeral_cortical_thickening 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP1 human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_cataract 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP1 human_phenotype_ontology_hp_0000028_human_phenotype_ontology_hp_0000797_mondo_mondo_0009047_medgen_c0010417_omim_219050 Cryptorchidism Human_Phenotype_Ontology:HP:0000028,Human_Phenotype_Ontology:HP:0000797,MONDO:MONDO:0009047,MedGen:C0010417,OMIM:219050 1 1 1.0000 condition_record_support_limited 20 0 1 Cryptorchidism 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP1 human_phenotype_ontology_hp_0003928_medgen_c4025500 Cortical thickening of humeral diaphysis Human_Phenotype_Ontology:HP:0003928,MedGen:C4025500 1 1 1.0000 condition_record_support_limited 20 0 1 Cortical_thickening_of_humeral_diaphysis 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP1 human_phenotype_ontology_hp_0007970_medgen_c0266573 Congenital ptosis Human_Phenotype_Ontology:HP:0007970,MedGen:C0266573 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_ptosis 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP1 human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Cleft palate Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 1.0000 condition_record_support_limited 20 0 1 Cleft_palate 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP1 human_phenotype_ontology_hp_0006808_medgen_c2677328 Cerebral hypomyelination Human_Phenotype_Ontology:HP:0006808,MedGen:C2677328 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_hypomyelination 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP1 human_phenotype_ontology_hp_0001143_human_phenotype_ontology_hp_0001585_human_phenotype_ontology_hp_0007633_medgen_c1843496 Bilateral microphthalmos Human_Phenotype_Ontology:HP:0001143,Human_Phenotype_Ontology:HP:0001585,Human_Phenotype_Ontology:HP:0007633,MedGen:C1843496 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_microphthalmos 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP1 human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Absent speech Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 1.0000 condition_record_support_limited 20 0 1 Absent_speech 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3GAP1 human_phenotype_ontology_hp_0001273_human_phenotype_ontology_hp_0007323_medgen_c1842581 Abnormal corpus callosum morphology Human_Phenotype_Ontology:HP:0001273,Human_Phenotype_Ontology:HP:0007323,MedGen:C1842581 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_corpus_callosum_morphology 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB3A condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene RAB3A rab3a_related_condition RAB3A-related condition . 1 1 1.0000 condition_record_support_limited 20 0 1 RAB3A-related_condition 1 low_record_burden_interpretation_limited low_record_burden_gene RAB39B parkinson_disease_x_linked_dominant Parkinson disease, X-linked dominant MedGen:CN234611 1 1 1.0000 condition_record_support_limited 20 0 1 Parkinson_disease,_X-linked_dominant 12 low_record_burden_interpretation_limited low_record_burden_gene RAB39B mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene RAB39B medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene RAB33A human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 1.0000 condition_record_support_limited 20 0 0 Tip-toe_gait 47 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RAB33A human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorineural_hearing_loss_disorder 47 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RAB33A human_phenotype_ontology_hp_0001763_mondo_mondo_0005293_medgen_c0016202 Pes planus Human_Phenotype_Ontology:HP:0001763,MONDO:MONDO:0005293,MedGen:C0016202 1 1 1.0000 condition_record_support_limited 20 0 1 Pes_planus 47 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RAB33A human_phenotype_ontology_hp_0003377_human_phenotype_ontology_hp_0009027_medgen_c1866141 Foot dorsiflexor weakness Human_Phenotype_Ontology:HP:0003377,Human_Phenotype_Ontology:HP:0009027,MedGen:C1866141 1 1 1.0000 condition_record_support_limited 20 0 1 Foot_dorsiflexor_weakness 47 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RAB33A human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 1.0000 condition_record_support_limited 20 0 1 Ear_malformation 47 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RAB33A mondo_mondo_0010983_medgen_c1832855_omim_601042_orphanet_53583 Dystonia 9 MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042,Orphanet:53583 1 1 1.0000 condition_record_support_limited 20 0 0 Dystonia_9 47 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RAB33A human_phenotype_ontology_hp_0002460_human_phenotype_ontology_hp_0002598_human_phenotype_ontology_hp_0002935_human_phenotype_ontology_hp_0003497_human_phenotype_ontology_hp_0006940_human_phenotype_ontology_hp_0009008_medgen_c0427065 Distal muscle weakness Human_Phenotype_Ontology:HP:0002460,Human_Phenotype_Ontology:HP:0002598,Human_Phenotype_Ontology:HP:0002935,Human_Phenotype_Ontology:HP:0003497,Human_Phenotype_Ontology:HP:0006940,Human_Phenotype_Ontology:HP:0009008,MedGen:C0427065 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_muscle_weakness 47 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RAB33A aifm1_related_disorder AIFM1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 AIFM1-related_disorder 47 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture RAB28 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB28 mondo_mondo_0000455_medgen_c0730290_orphanet_1871 Cone dystrophy MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 1.0000 condition_record_support_limited 20 0 0 Cone_dystrophy 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB27A medgen_c5391534 Multisystem inflammatory syndrome in children MedGen:C5391534 1 1 1.0000 condition_record_support_limited 20 0 1 Multisystem_inflammatory_syndrome_in_children 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB27A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB27A mondo_mondo_0018306_medgen_c0398794_omim_ps214450_orphanet_381 Griscelli syndrome MONDO:MONDO:0018306,MedGen:C0398794,OMIM:PS214450,Orphanet:381 1 1 1.0000 condition_record_support_limited 20 0 1 Griscelli_syndrome 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB23 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture RAB1A condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene RAB11B human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 6 low_record_burden_interpretation_limited low_record_burden_gene RAB11A condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene RAB11A human_phenotype_ontology_hp_0011451_medgen_c2677180 Primary microcephaly Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_microcephaly 2 low_record_burden_interpretation_limited low_record_burden_gene RAB11A human_phenotype_ontology_hp_0010465_mondo_mondo_0018561_medgen_c0271616_orphanet_435561 Precocious puberty in females Human_Phenotype_Ontology:HP:0010465,MONDO:MONDO:0018561,MedGen:C0271616,Orphanet:435561 1 1 1.0000 condition_record_support_limited 20 0 1 Precocious_puberty_in_females 2 low_record_burden_interpretation_limited low_record_burden_gene RAB11A human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Mild intellectual disability Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 1 1 1.0000 condition_record_support_limited 20 0 1 Mild_intellectual_disability 2 low_record_burden_interpretation_limited low_record_burden_gene RAB11A human_phenotype_ontology_hp_0001346_human_phenotype_ontology_hp_0002353_human_phenotype_ontology_hp_0002429_human_phenotype_ontology_hp_0006841_medgen_c0151611 EEG abnormality Human_Phenotype_Ontology:HP:0001346,Human_Phenotype_Ontology:HP:0002353,Human_Phenotype_Ontology:HP:0002429,Human_Phenotype_Ontology:HP:0006841,MedGen:C0151611 1 1 1.0000 condition_record_support_limited 20 0 1 EEG_abnormality 2 low_record_burden_interpretation_limited low_record_burden_gene RAB11A human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 2 low_record_burden_interpretation_limited low_record_burden_gene RAB11A human_phenotype_ontology_hp_0010862_medgen_c4023681 Delayed fine motor development Human_Phenotype_Ontology:HP:0010862,MedGen:C4023681 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_fine_motor_development 2 low_record_burden_interpretation_limited low_record_burden_gene RAB11A human_phenotype_ontology_hp_0000280_human_phenotype_ontology_hp_0000281_human_phenotype_ontology_hp_0004640_medgen_c1845847 Coarse facial features Human_Phenotype_Ontology:HP:0000280,Human_Phenotype_Ontology:HP:0000281,Human_Phenotype_Ontology:HP:0004640,MedGen:C1845847 1 1 1.0000 condition_record_support_limited 20 0 1 Coarse_facial_features 2 low_record_burden_interpretation_limited low_record_burden_gene QRICH2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene QRICH1 qrich1_related_neurodevelopmental_disorder QRICH1-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 QRICH1-related_neurodevelopmental_disorder 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture QRICH1 human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Mild intellectual disability Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 1 1 1.0000 condition_record_support_limited 20 0 1 Mild_intellectual_disability 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture QDPR qdpr_related_disorder QDPR-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 QDPR-related_disorder 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture QDPR mondo_mondo_0016543_medgen_c0751436_orphanet_238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency MONDO:MONDO:0016543,MedGen:C0751436,Orphanet:238583 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperphenylalaninemia_due_to_tetrahydrobiopterin_deficiency 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture QDPR mondo_mondo_0009863_medgen_c0878676_omim_261640_orphanet_13_orphanet_238583 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency MONDO:MONDO:0009863,MedGen:C0878676,OMIM:261640,Orphanet:13,Orphanet:238583 1 1 1.0000 condition_record_support_limited 20 0 1 6-Pyruvoyl-tetrahydrobiopterin_synthase_deficiency 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture QARS1 qars1_related_disorder QARS1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 QARS1-related_disorder 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture QARS1 mondo_mondo_0014858_medgen_c4707429_omim_616977 Intellectual disability, autosomal dominant 43 MONDO:MONDO:0014858,MedGen:C4707429,OMIM:616977 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_autosomal_dominant_43 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYY mondo_mondo_0009377_medgen_c0268543_omim_237310_orphanet_927 Hyperammonemia, type III MONDO:MONDO:0009377,MedGen:C0268543,OMIM:237310,Orphanet:927 1 1 1.0000 condition_record_support_limited 20 0 0 Hyperammonemia,_type_III 1 low_record_burden_interpretation_limited low_record_burden_gene PYURF mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_disease 2 low_record_burden_interpretation_limited low_record_burden_gene PYURF mondo_mondo_0014780_medgen_c4225201_omim_616809_orphanet_247262 Hyperphosphatasia with intellectual disability syndrome 6 MONDO:MONDO:0014780,MedGen:C4225201,OMIM:616809,Orphanet:247262 1 1 1.0000 condition_record_support_limited 20 0 0 Hyperphosphatasia_with_intellectual_disability_syndrome_6 2 low_record_burden_interpretation_limited low_record_burden_gene PYGM mondo_mondo_0700223_medgen_cn324038 Hereditary skeletal muscle disorder MONDO:MONDO:0700223,MedGen:CN324038 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_skeletal_muscle_disorder 294 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYGM mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 Glycogen storage disease MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 1 1 1.0000 condition_record_support_limited 20 0 1 Glycogen_storage_disease 294 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYGM human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_metabolism/homeostasis 294 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYCR2 mondo_mondo_0018868_medgen_c0023522_omim_250100_orphanet_512 Metachromatic leukodystrophy MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,Orphanet:512 1 1 1.0000 condition_record_support_limited 20 0 0 Metachromatic_leukodystrophy 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYCR2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYCR1 pycr1_related_autosomal_recessive_cutis_laxa PYCR1- related autosomal recessive cutis laxa . 1 1 1.0000 condition_record_support_limited 20 0 1 PYCR1-_related_autosomal_recessive_cutis_laxa 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PYCR1 human_phenotype_ontology_hp_0003549_medgen_c4025596 Abnormality of connective tissue Human_Phenotype_Ontology:HP:0003549,MedGen:C4025596 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_connective_tissue 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PXDN pxdn_related_disorder PXDN-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 PXDN-related_disorder 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PXDN mondo_mondo_0009277_medgen_c1856439_omim_231300_orphanet_98976_orphanet_98977 Glaucoma 3A MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977 1 1 1.0000 condition_record_support_limited 20 0 0 Glaucoma_3A 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PWWP2A human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 1 low_record_burden_interpretation_limited low_record_burden_gene PUS7 mondo_mondo_0000594_medgen_c0524528_orphanet_168778 Pervasive developmental disorder MONDO:MONDO:0000594,MedGen:C0524528,Orphanet:168778 1 1 1.0000 condition_record_support_limited 20 0 1 Pervasive_developmental_disorder 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUS7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUS3 pus3_related_disorder PUS3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PUS3-related_disorder 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUS3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUS10 mondo_mondo_0013950_medgen_c3554001_omim_614885_orphanet_44 Peroxisome biogenesis disorder 11B MONDO:MONDO:0013950,MedGen:C3554001,OMIM:614885,Orphanet:44 1 1 1.0000 condition_record_support_limited 20 0 1 Peroxisome_biogenesis_disorder_11B 5 low_record_burden_interpretation_limited low_record_burden_gene PUS1 mondo_mondo_0009644_medgen_c1854989_omim_252160_orphanet_308393_orphanet_833 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 MONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160,Orphanet:308393,Orphanet:833 1 1 1.0000 condition_record_support_limited 20 0 1 Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_B1 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PURA pura_related_neurodevelopmental_disorder PURA-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PURA-related_neurodevelopmental_disorder 218 single_exon_hotspot_opportunity local_compact_architecture PURA human_phenotype_ontology_hp_0002451_medgen_c0751093 Limb dystonia Human_Phenotype_Ontology:HP:0002451,MedGen:C0751093 1 1 1.0000 condition_record_support_limited 20 0 1 Limb_dystonia 218 single_exon_hotspot_opportunity local_compact_architecture PURA human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 218 single_exon_hotspot_opportunity local_compact_architecture PURA human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 1 Epileptic_encephalopathy 218 single_exon_hotspot_opportunity local_compact_architecture PURA human_phenotype_ontology_hp_0002104_human_phenotype_ontology_hp_0005936_human_phenotype_ontology_hp_0005958_medgen_c0003578 Apnea Human_Phenotype_Ontology:HP:0002104,Human_Phenotype_Ontology:HP:0005936,Human_Phenotype_Ontology:HP:0005958,MedGen:C0003578 1 1 1.0000 condition_record_support_limited 20 0 1 Apnea 218 single_exon_hotspot_opportunity local_compact_architecture PURA human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 218 single_exon_hotspot_opportunity local_compact_architecture PUM1 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUM1 pum1_related_disorder PUM1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 PUM1-related_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUM1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUF60 mondo_mondo_0032829_medgen_c5231423_omim_618603 Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities MONDO:MONDO:0032829,MedGen:C5231423,OMIM:618603 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_hypotonia_and_variable_intellectual_and_behavioral_abnormalities 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUF60 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PUF60 mondo_mondo_0008965_medgen_c0265354_orphanet_138 CHARGE syndrome MONDO:MONDO:0008965,MedGen:C0265354,Orphanet:138 1 1 1.0000 condition_record_support_limited 20 0 1 CHARGE_syndrome 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTS mondo_mondo_0016543_medgen_c0751436_orphanet_238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency MONDO:MONDO:0016543,MedGen:C0751436,Orphanet:238583 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperphenylalaninemia_due_to_tetrahydrobiopterin_deficiency 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTRHD1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene PTRHD1 human_phenotype_ontology_hp_0001300_mondo_mondo_0021095_medgen_c0242422 Parkinsonian disorder Human_Phenotype_Ontology:HP:0001300,MONDO:MONDO:0021095,MedGen:C0242422 1 1 1.0000 condition_record_support_limited 20 0 1 Parkinsonian_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene PTRH2 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 9 low_record_burden_interpretation_limited low_record_burden_gene PTRH2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 9 low_record_burden_interpretation_limited low_record_burden_gene PTRH2 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 9 low_record_burden_interpretation_limited low_record_burden_gene PTPRS mondo_mondo_0016996_medgen_c4509932_orphanet_263665 NK-cell enteropathy MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665 1 1 1.0000 condition_record_support_limited 20 0 0 NK-cell_enteropathy 1 low_record_burden_interpretation_limited low_record_burden_gene PTPRQ human_phenotype_ontology_hp_0002317_medgen_c0231686 Unsteady gait Human_Phenotype_Ontology:HP:0002317,MedGen:C0231686 1 1 1.0000 condition_record_support_limited 20 0 1 Unsteady_gait 60 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PTPRQ human_phenotype_ontology_hp_0001763_mondo_mondo_0005293_medgen_c0016202 Pes planus Human_Phenotype_Ontology:HP:0001763,MONDO:MONDO:0005293,MedGen:C0016202 1 1 1.0000 condition_record_support_limited 20 0 1 Pes_planus 60 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PTPRQ human_phenotype_ontology_hp_0001761_medgen_c0728829 Pes cavus Human_Phenotype_Ontology:HP:0001761,MedGen:C0728829 1 1 1.0000 condition_record_support_limited 20 0 1 Pes_cavus 60 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PTPRQ human_phenotype_ontology_hp_0012531_medgen_c0030193 Pain Human_Phenotype_Ontology:HP:0012531,MedGen:C0030193 1 1 1.0000 condition_record_support_limited 20 0 1 Pain 60 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PTPRQ human_phenotype_ontology_hp_0002505_human_phenotype_ontology_hp_0006957_medgen_c1836843 Loss of ambulation Human_Phenotype_Ontology:HP:0002505,Human_Phenotype_Ontology:HP:0006957,MedGen:C1836843 1 1 1.0000 condition_record_support_limited 20 0 1 Loss_of_ambulation 60 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PTPRQ human_phenotype_ontology_hp_0002166_medgen_c1849134 Impaired vibration sensation in the lower limbs Human_Phenotype_Ontology:HP:0002166,MedGen:C1849134 1 1 1.0000 condition_record_support_limited 20 0 1 Impaired_vibration_sensation_in_the_lower_limbs 60 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PTPRQ human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 60 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PTPRJ mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 1 1 1.0000 condition_record_support_limited 20 0 0 Carcinoma_of_colon 3 low_record_burden_interpretation_limited low_record_burden_gene PTPRF mondo_mondo_0014450_medgen_c4014918_omim_616001 Breasts and/or nipples, aplasia or hypoplasia of, 2 MONDO:MONDO:0014450,MedGen:C4014918,OMIM:616001 1 1 1.0000 condition_record_support_limited 20 0 0 Breasts_and/or_nipples,_aplasia_or_hypoplasia_of,_2 1 low_record_burden_interpretation_limited low_record_burden_gene PTPRC condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPRC human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 1 1 1.0000 condition_record_support_limited 20 0 0 Severe_combined_immunodeficiency_disease 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN4 ptpn4_related_disorder PTPN4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PTPN4-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene PTPN4 ptpn4_related_aberrant_neurodevelopment_and_growth PTPN4-related aberrant neurodevelopment and growth . 1 1 1.0000 condition_record_support_limited 20 0 0 PTPN4-related_aberrant_neurodevelopment_and_growth 12 low_record_burden_interpretation_limited low_record_burden_gene PTPN4 ptpn4_related_neurodevelopmental_disorder PTPN4-related Neurodevelopmental Disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 PTPN4-related_Neurodevelopmental_Disorder 12 low_record_burden_interpretation_limited low_record_burden_gene PTPN4 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 12 low_record_burden_interpretation_limited low_record_burden_gene PTPN23 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN23 ptpn23_related_disorder PTPN23-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PTPN23-related_disorder 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN23 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN14 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene PTPN14 human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Esophageal atresia/tracheoesophageal fistula Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 1.0000 condition_record_support_limited 20 0 0 Esophageal_atresia/tracheoesophageal_fistula 4 low_record_burden_interpretation_limited low_record_burden_gene PTPN12 mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 1 1 1.0000 condition_record_support_limited 20 0 0 Carcinoma_of_colon 1 low_record_burden_interpretation_limited low_record_burden_gene PTPN11 human_phenotype_ontology_hp_0000424_human_phenotype_ontology_hp_0000431_human_phenotype_ontology_hp_0004500_human_phenotype_ontology_hp_0004504_human_phenotype_ontology_hp_0004650_human_phenotype_ontology_hp_0200139_medgen_c1849367 Wide nasal bridge Human_Phenotype_Ontology:HP:0000424,Human_Phenotype_Ontology:HP:0000431,Human_Phenotype_Ontology:HP:0004500,Human_Phenotype_Ontology:HP:0004504,Human_Phenotype_Ontology:HP:0004650,Human_Phenotype_Ontology:HP:0200139,MedGen:C1849367 1 1 1.0000 condition_record_support_limited 20 0 1 Wide_nasal_bridge 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 efo_efo_0005306_human_phenotype_ontology_hp_0004756_mondo_mondo_0005477_medgen_c0042514 Ventricular tachycardia EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514 1 1 1.0000 condition_record_support_limited 20 0 0 Ventricular_tachycardia 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 mondo_mondo_0005385_medgen_c0042373 Vascular disorder MONDO:MONDO:0005385,MedGen:C0042373 1 1 1.0000 condition_record_support_limited 20 0 1 Vascular_disorder 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0004753_human_phenotype_ontology_hp_0005180_mondo_mondo_0002870_medgen_c0040961 Tricuspid regurgitation Human_Phenotype_Ontology:HP:0004753,Human_Phenotype_Ontology:HP:0005180,MONDO:MONDO:0002870,MedGen:C0040961 1 1 1.0000 condition_record_support_limited 20 0 1 Tricuspid_regurgitation 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombocytopenia 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 1.0000 condition_record_support_limited 20 0 1 Strabismus 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0001328_human_phenotype_ontology_hp_0007234_mondo_mondo_0016225_medgen_c4025790_orphanet_211047 Specific learning disability Human_Phenotype_Ontology:HP:0001328,Human_Phenotype_Ontology:HP:0007234,MONDO:MONDO:0016225,MedGen:C4025790,Orphanet:211047 1 1 1.0000 condition_record_support_limited 20 0 1 Specific_learning_disability 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 1.0000 condition_record_support_limited 20 0 1 Scoliosis 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0001667_medgen_c0162770 Right ventricular hypertrophy Human_Phenotype_Ontology:HP:0001667,MedGen:C0162770 1 1 1.0000 condition_record_support_limited 20 0 1 Right_ventricular_hypertrophy 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0000508_mondo_mondo_0000728_medgen_c0005745 Ptosis Human_Phenotype_Ontology:HP:0000508,MONDO:MONDO:0000728,MedGen:C0005745 1 1 1.0000 condition_record_support_limited 20 0 1 Ptosis 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0000767_human_phenotype_ontology_hp_0006613_human_phenotype_ontology_hp_0006617_mondo_mondo_0008213_medgen_c2051831_omim_169300 Pectus excavatum Human_Phenotype_Ontology:HP:0000767,Human_Phenotype_Ontology:HP:0006613,Human_Phenotype_Ontology:HP:0006617,MONDO:MONDO:0008213,MedGen:C2051831,OMIM:169300 1 1 1.0000 condition_record_support_limited 20 0 1 Pectus_excavatum 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0001643_mondo_mondo_0011827_medgen_c0013274_omim_ps607411 Patent ductus arteriosus Human_Phenotype_Ontology:HP:0001643,MONDO:MONDO:0011827,MedGen:C0013274,OMIM:PS607411 1 1 1.0000 condition_record_support_limited 20 0 1 Patent_ductus_arteriosus 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 monogenic_short_stature Monogenic short stature . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_short_stature 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Mild intellectual disability Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 1 1 1.0000 condition_record_support_limited 20 0 1 Mild_intellectual_disability 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0002665_mondo_mondo_0005062_mesh_d008223_medgen_c0024299_orphanet_223735 Lymphoma Human_Phenotype_Ontology:HP:0002665,MONDO:MONDO:0005062,MeSH:D008223,MedGen:C0024299,Orphanet:223735 1 1 1.0000 condition_record_support_limited 20 0 1 Lymphoma 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0000286_human_phenotype_ontology_hp_0000624_human_phenotype_ontology_hp_0007930_medgen_c0678230_omim_131500 Epicanthus Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500 1 1 1.0000 condition_record_support_limited 20 0 1 Epicanthus 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 mondo_mondo_0100291_medgen_c4329780 Early T cell progenitor acute lymphoblastic leukemia MONDO:MONDO:0100291,MedGen:C4329780 1 1 1.0000 condition_record_support_limited 20 0 1 Early_T_cell_progenitor_acute_lymphoblastic_leukemia 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0005164_medgen_c0344974 Dysplastic pulmonary valve Human_Phenotype_Ontology:HP:0005164,MedGen:C0344974 1 1 1.0000 condition_record_support_limited 20 0 1 Dysplastic_pulmonary_valve 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0000457_medgen_c1842876 Depressed nasal ridge Human_Phenotype_Ontology:HP:0000457,MedGen:C1842876 1 1 1.0000 condition_record_support_limited 20 0 1 Depressed_nasal_ridge 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 Congenital long QT syndrome MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_long_QT_syndrome 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 mondo_mondo_0016044_medgen_c0158646_orphanet_199306 Cleft lip/palate MONDO:MONDO:0016044,MedGen:C0158646,Orphanet:199306 1 1 1.0000 condition_record_support_limited 20 0 1 Cleft_lip/palate 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0000957_human_phenotype_ontology_hp_0005601_human_phenotype_ontology_hp_0007454_medgen_c0221263 Cafe-au-lait spot Human_Phenotype_Ontology:HP:0000957,Human_Phenotype_Ontology:HP:0005601,Human_Phenotype_Ontology:HP:0007454,MedGen:C0221263 1 1 1.0000 condition_record_support_limited 20 0 1 Cafe-au-lait_spot 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 mondo_mondo_0013308_medgen_c3150803_omim_613563_orphanet_363972 CBL-related disorder MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563,Orphanet:363972 1 1 1.0000 condition_record_support_limited 20 0 1 CBL-related_disorder 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0000248_human_phenotype_ontology_hp_0002258_human_phenotype_ontology_hp_0004479_human_phenotype_ontology_hp_0008512_medgen_c0221356_orphanet_35099 Brachycephaly Human_Phenotype_Ontology:HP:0000248,Human_Phenotype_Ontology:HP:0002258,Human_Phenotype_Ontology:HP:0004479,Human_Phenotype_Ontology:HP:0008512,MedGen:C0221356,Orphanet:35099 1 1 1.0000 condition_record_support_limited 20 0 1 Brachycephaly 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 medgen_c3472624 B lymphoblastic leukemia lymphoma, no ICD-O subtype MedGen:C3472624 1 1 1.0000 condition_record_support_limited 20 0 1 B_lymphoblastic_leukemia_lymphoma,_no_ICD-O_subtype 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0001684_human_phenotype_ontology_hp_0200131_mondo_mondo_0020434_medgen_c0344724_orphanet_99103 Atrial septal defect, ostium secundum type Human_Phenotype_Ontology:HP:0001684,Human_Phenotype_Ontology:HP:0200131,MONDO:MONDO:0020434,MedGen:C0344724,Orphanet:99103 1 1 1.0000 condition_record_support_limited 20 0 1 Atrial_septal_defect,_ostium_secundum_type 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 mondo_mondo_0021636_medgen_cn294317_orphanet_94 Astrocytic tumor MONDO:MONDO:0021636,MedGen:CN294317,Orphanet:94 1 1 1.0000 condition_record_support_limited 20 0 1 Astrocytic_tumor 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0000377_human_phenotype_ontology_hp_0000390_human_phenotype_ontology_hp_0000398_human_phenotype_ontology_hp_0004465_human_phenotype_ontology_hp_0008562_human_phenotype_ontology_hp_0008566_human_phenotype_ontology_hp_0008567_human_phenotype_ontology_hp_0008572_human_phenotype_ontology_hp_0008580_human_phenotype_ontology_hp_0008582_human_phenotype_ontology_hp_0008594_human_phenotype_ontology_hp_0008602_human_phenotype_ontology_hp_0040111_medgen_c0857379 Abnormal pinna morphology Human_Phenotype_Ontology:HP:0000377,Human_Phenotype_Ontology:HP:0000390,Human_Phenotype_Ontology:HP:0000398,Human_Phenotype_Ontology:HP:0004465,Human_Phenotype_Ontology:HP:0008562,Human_Phenotype_Ontology:HP:0008566,Human_Phenotype_Ontology:HP:0008567,Human_Phenotype_Ontology:HP:0008572,Human_Phenotype_Ontology:HP:0008580,Human_Phenotype_Ontology:HP:0008582,Human_Phenotype_Ontology:HP:0008594,Human_Phenotype_Ontology:HP:0008602,Human_Phenotype_Ontology:HP:0040111,MedGen:C0857379 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_pinna_morphology 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN11 human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_bleeding 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTPN1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene PTPN1 mondo_mondo_0957408_medgen_c5681250_orphanet_481671 Type 1 interferonopathy of childhood MONDO:MONDO:0957408,MedGen:C5681250,Orphanet:481671 1 1 1.0000 condition_record_support_limited 20 0 0 Type_1_interferonopathy_of_childhood 3 low_record_burden_interpretation_limited low_record_burden_gene PTPN1 autoinflammatory_encephalopathy_due_to_ptpn1_haploinsufficiency Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency . 1 1 1.0000 condition_record_support_limited 20 0 0 Autoinflammatory_encephalopathy_due_to_PTPN1_haploinsufficiency 3 low_record_burden_interpretation_limited low_record_burden_gene PTPMT1 mondo_mondo_0978300_medgen_c6012724_omim_621199 Neurodevelopmental disorder with ataxia and brain abnormalities MONDO:MONDO:0978300,MedGen:C6012724,OMIM:621199 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_ataxia_and_brain_abnormalities 1 low_record_burden_interpretation_limited low_record_burden_gene PTHLH mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTH2R mondo_mondo_0000508_medgen_c5680525_orphanet_183763 Syndromic intellectual disability MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 1.0000 condition_record_support_limited 20 0 0 Syndromic_intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene PTH1R human_phenotype_ontology_hp_0000852_mondo_mondo_0019992_medgen_c0033806_orphanet_79443_orphanet_97593 Pseudohypoparathyroidism Human_Phenotype_Ontology:HP:0000852,MONDO:MONDO:0019992,MedGen:C0033806,Orphanet:79443,Orphanet:97593 1 1 1.0000 condition_record_support_limited 20 0 0 Pseudohypoparathyroidism 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTH1R mondo_mondo_0007223_medgen_c1862102_omim_113300_orphanet_93387 Brachydactyly type E1 MONDO:MONDO:0007223,MedGen:C1862102,OMIM:113300,Orphanet:93387 1 1 1.0000 condition_record_support_limited 20 0 0 Brachydactyly_type_E1 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTH human_phenotype_ontology_hp_0008200_human_phenotype_ontology_hp_0008254_mondo_mondo_0010837_medgen_c0221002 Primary hyperparathyroidism Human_Phenotype_Ontology:HP:0008200,Human_Phenotype_Ontology:HP:0008254,MONDO:MONDO:0010837,MedGen:C0221002 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_hyperparathyroidism 8 low_record_burden_interpretation_limited low_record_burden_gene PTH mondo_mondo_0016390_medgen_c1832648_omim_ps146200_orphanet_2238 Familial hypoparathyroidism MONDO:MONDO:0016390,MedGen:C1832648,OMIM:PS146200,Orphanet:2238 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_hypoparathyroidism 8 low_record_burden_interpretation_limited low_record_burden_gene PTGIS mondo_mondo_0001134_medgen_c0085580 Essential hypertension MONDO:MONDO:0001134,MedGen:C0085580 1 1 1.0000 condition_record_support_limited 20 0 0 Essential_hypertension 2 low_record_burden_interpretation_limited low_record_burden_gene PTGIS mondo_mondo_0957430_medgen_c0036346_orphanet_641496 Childhood-onset schizophrenia MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 1.0000 condition_record_support_limited 20 0 0 Childhood-onset_schizophrenia 2 low_record_burden_interpretation_limited low_record_burden_gene PTGER2 mondo_mondo_0008569_medgen_c2937288_omim_188570 Thyroid hormone resistance, generalized, autosomal dominant MONDO:MONDO:0008569,MedGen:C2937288,OMIM:188570 1 1 1.0000 condition_record_support_limited 20 0 0 Thyroid_hormone_resistance,_generalized,_autosomal_dominant 1 low_record_burden_interpretation_limited low_record_burden_gene PTF1A mondo_mondo_0014406_medgen_c4014737_omim_615935_orphanet_2805 Pancreatic agenesis 2 MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805 1 1 1.0000 condition_record_support_limited 20 0 1 Pancreatic_agenesis_2 7 low_record_burden_interpretation_limited low_record_burden_gene PTF1A human_phenotype_ontology_hp_0004904_mondo_mondo_0018911_medgen_c0342276_omim_ps125850_orphanet_552 Maturity-onset diabetes of the young Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552 1 1 1.0000 condition_record_support_limited 20 0 0 Maturity-onset_diabetes_of_the_young 7 low_record_burden_interpretation_limited low_record_burden_gene PTF1A mondo_mondo_0014415_medgen_c1835808_omim_615953 Kallikrein, decreased urinary activity of MONDO:MONDO:0014415,MedGen:C1835808,OMIM:615953 1 1 1.0000 condition_record_support_limited 20 0 1 Kallikrein,_decreased_urinary_activity_of 7 low_record_burden_interpretation_limited low_record_burden_gene PTEN medgen_c2749240 Vater association with macrocephaly and ventriculomegaly MedGen:C2749240 1 1 1.0000 condition_record_support_limited 20 0 1 Vater_association_with_macrocephaly_and_ventriculomegaly 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN mondo_mondo_0006003_medgen_cn277893 Uterine corpus cancer MONDO:MONDO:0006003,MedGen:CN277893 1 1 1.0000 condition_record_support_limited 20 0 1 Uterine_corpus_cancer 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN mondo_mondo_0008566_medgen_c4225426_omim_188470 Thyroid cancer, nonmedullary, 2 MONDO:MONDO:0008566,MedGen:C4225426,OMIM:188470 1 1 1.0000 condition_record_support_limited 20 0 1 Thyroid_cancer,_nonmedullary,_2 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN mondo_mondo_0016073_medgen_c5679782_omim_ps309800_orphanet_202948 Syndromic microphthalmia MONDO:MONDO:0016073,MedGen:C5679782,OMIM:PS309800,Orphanet:202948 1 1 1.0000 condition_record_support_limited 20 0 1 Syndromic_microphthalmia 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN mondo_mondo_0015293_medgen_c4706610_orphanet_137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome MONDO:MONDO:0015293,MedGen:C4706610,Orphanet:137608 1 1 1.0000 condition_record_support_limited 20 0 1 Segmental_outgrowth-lipomatosis-arteriovenous_malformation-epidermal_nevus_syndrome 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Rhabdomyosarcoma Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 1 1 1.0000 condition_record_support_limited 20 0 1 Rhabdomyosarcoma 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN pigmentary_skin_disorders Pigmentary skin disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Pigmentary_skin_disorders 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN mondo_mondo_0016724_medgen_c2985219_orphanet_251915 Papillary tumor of the pineal region MONDO:MONDO:0016724,MedGen:C2985219,Orphanet:251915 1 1 1.0000 condition_record_support_limited 20 0 1 Papillary_tumor_of_the_pineal_region 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN mondo_mondo_0019452_medgen_c1333046_orphanet_86830 Myeloproliferative neoplasm, unclassifiable MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830 1 1 1.0000 condition_record_support_limited 20 0 0 Myeloproliferative_neoplasm,_unclassifiable 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN human_phenotype_ontology_hp_0002861_human_phenotype_ontology_hp_0002887_human_phenotype_ontology_hp_0006777_human_phenotype_ontology_hp_0007474_mondo_mondo_0005105_mesh_d008545_medgen_c0025202 Melanoma Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202 1 1 1.0000 condition_record_support_limited 20 0 1 Melanoma 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN mondo_mondo_0021067_medgen_c1334655 Mediastinal germ cell tumor MONDO:MONDO:0021067,MedGen:C1334655 1 1 1.0000 condition_record_support_limited 20 0 1 Mediastinal_germ_cell_tumor 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN human_phenotype_ontology_hp_0004488_medgen_c1836599 Macrocephaly at birth Human_Phenotype_Ontology:HP:0004488,MedGen:C1836599 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly_at_birth 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN human_phenotype_ontology_hp_0007185_medgen_c0041657 Loss of consciousness Human_Phenotype_Ontology:HP:0007185,MedGen:C0041657 1 1 1.0000 condition_record_support_limited 20 0 1 Loss_of_consciousness 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN human_phenotype_ontology_hp_0001520_human_phenotype_ontology_hp_0001825_medgen_c1848395 Large for gestational age Human_Phenotype_Ontology:HP:0001520,Human_Phenotype_Ontology:HP:0001825,MedGen:C1848395 1 1 1.0000 condition_record_support_limited 20 0 1 Large_for_gestational_age 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN medgen_c1333600 Hereditary cancer MedGen:C1333600 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN human_phenotype_ontology_hp_0001028_human_phenotype_ontology_hp_0007444_mondo_mondo_0006500_medgen_c0018916 Hemangioma Human_Phenotype_Ontology:HP:0001028,Human_Phenotype_Ontology:HP:0007444,MONDO:MONDO:0006500,MedGen:C0018916 1 1 1.0000 condition_record_support_limited 20 0 1 Hemangioma 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN human_phenotype_ontology_hp_0004390_mondo_mondo_0006231_medgen_c3272802 Hamartomatous polyposis Human_Phenotype_Ontology:HP:0004390,MONDO:MONDO:0006231,MedGen:C3272802 1 1 1.0000 condition_record_support_limited 20 0 0 Hamartomatous_polyposis 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN mondo_mondo_0006193_medgen_c1516855 Endometrial hyperplasia without atypia MONDO:MONDO:0006193,MedGen:C1516855 1 1 1.0000 condition_record_support_limited 20 0 1 Endometrial_hyperplasia_without_atypia 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN mondo_mondo_0014046_medgen_c3554517_omim_615107_orphanet_201 Cowden syndrome 4 MONDO:MONDO:0014046,MedGen:C3554517,OMIM:615107,Orphanet:201 1 1 1.0000 condition_record_support_limited 20 0 1 Cowden_syndrome_4 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Breast neoplasm Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 1 1 1.0000 condition_record_support_limited 20 0 1 Breast_neoplasm 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN mondo_mondo_0006096_medgen_c0349579 Atypical endometrial hyperplasia MONDO:MONDO:0006096,MedGen:C0349579 1 1 1.0000 condition_record_support_limited 20 0 1 Atypical_endometrial_hyperplasia 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN human_phenotype_ontology_hp_0006733_mondo_mondo_0018872_mesh_d007947_medgen_c0023462_orphanet_518 Acute megakaryoblastic leukemia Human_Phenotype_Ontology:HP:0006733,MONDO:MONDO:0018872,MeSH:D007947,MedGen:C0023462,Orphanet:518 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_megakaryoblastic_leukemia 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTEN human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 1243 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PTCRA mondo_mondo_0975761_medgen_c5975362_omim_620931 Immunodeficiency 126, susceptibility to MONDO:MONDO:0975761,MedGen:C5975362,OMIM:620931 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_126,_susceptibility_to 1 low_record_burden_interpretation_limited low_record_burden_gene PTCHD1 medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_intellectual_disability 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTCHD1 mondo_mondo_0019181_medgen_c3501611_omim_ps309530_orphanet_777 Non-syndromic X-linked intellectual disability MONDO:MONDO:0019181,MedGen:C3501611,OMIM:PS309530,Orphanet:777 1 1 1.0000 condition_record_support_limited 20 0 0 Non-syndromic_X-linked_intellectual_disability 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTCHD1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTCHD1 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTCH2 mondo_mondo_0007187_medgen_c0004779_omim_ps109400_orphanet_377 Gorlin syndrome MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377 1 1 1.0000 condition_record_support_limited 20 0 1 Gorlin_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene PTCH2 mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_cancer_of_breast 3 low_record_burden_interpretation_limited low_record_burden_gene PTCH2 mondo_mondo_0011556_medgen_c2751544_omim_605462 Basal cell carcinoma, susceptibility to, 1 MONDO:MONDO:0011556,MedGen:C2751544,OMIM:605462 1 1 1.0000 condition_record_support_limited 20 0 1 Basal_cell_carcinoma,_susceptibility_to,_1 3 low_record_burden_interpretation_limited low_record_burden_gene PTCH2 medgen_c3838465 Basal cell carcinoma, somatic MedGen:C3838465 1 1 1.0000 condition_record_support_limited 20 0 0 Basal_cell_carcinoma,_somatic 3 low_record_burden_interpretation_limited low_record_burden_gene PTCH1 human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Rhabdomyosarcoma Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 1 1 1.0000 condition_record_support_limited 20 0 0 Rhabdomyosarcoma 736 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTCH1 human_phenotype_ontology_hp_0000826_mondo_mondo_0000088_medgen_c0034013_orphanet_95708 Precocious puberty Human_Phenotype_Ontology:HP:0000826,MONDO:MONDO:0000088,MedGen:C0034013,Orphanet:95708 1 1 1.0000 condition_record_support_limited 20 0 1 Precocious_puberty 736 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTCH1 human_phenotype_ontology_hp_0005808_human_phenotype_ontology_hp_0100259_mondo_mondo_0020927_medgen_c0220697_omim_ps174200 Postaxial polydactyly Human_Phenotype_Ontology:HP:0005808,Human_Phenotype_Ontology:HP:0100259,MONDO:MONDO:0020927,MedGen:C0220697,OMIM:PS174200 1 1 1.0000 condition_record_support_limited 20 0 1 Postaxial_polydactyly 736 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTCH1 human_phenotype_ontology_hp_0001548_medgen_c1849265 Overgrowth Human_Phenotype_Ontology:HP:0001548,MedGen:C1849265 1 1 1.0000 condition_record_support_limited 20 0 1 Overgrowth 736 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTCH1 human_phenotype_ontology_hp_0002885_mondo_mondo_0007959_mesh_d008527_medgen_c0025149_omim_155255_orphanet_616 Medulloblastoma Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616 1 1 1.0000 condition_record_support_limited 20 0 1 Medulloblastoma 736 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTCH1 human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 736 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTCH1 mondo_mondo_0100118_medgen_cn323672 Hereditary skin disorder MONDO:MONDO:0100118,MedGen:CN323672 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_skin_disorder 736 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTCH1 medgen_c3838465 Basal cell carcinoma, somatic MedGen:C3838465 1 1 1.0000 condition_record_support_limited 20 0 0 Basal_cell_carcinoma,_somatic 736 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTCH1 medgen_c5680330_orphanet_98555 Anophthalmia-microphthalmia syndrome MedGen:C5680330,Orphanet:98555 1 1 1.0000 condition_record_support_limited 20 0 0 Anophthalmia-microphthalmia_syndrome 736 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PTCD3 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 1 See_cases 10 low_record_burden_interpretation_limited low_record_burden_gene PTBP2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene PTBP1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene PSTPIP1 pstpip1_related_disorder PSTPIP1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PSTPIP1-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene PSPH condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene PSORS1C1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene PSORS1C1 cdsn_related_disorder CDSN-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CDSN-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene PSMG2 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 14 low_record_burden_interpretation_limited low_record_burden_gene PSMG2 mondo_mondo_0030931_medgen_c5543053_omim_619183 Proteasome-associated autoinflammatory syndrome 4 MONDO:MONDO:0030931,MedGen:C5543053,OMIM:619183 1 1 1.0000 condition_record_support_limited 20 0 0 Proteasome-associated_autoinflammatory_syndrome_4 14 low_record_burden_interpretation_limited low_record_burden_gene PSMD12 psmd12_related_disorder PSMD12-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 PSMD12-related_disorder 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSMD12 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSMD12 human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 1.0000 condition_record_support_limited 20 0 0 Craniosynostosis_syndrome 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSMD11 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 3 low_record_burden_interpretation_limited low_record_burden_gene PSMD11 psmd11_associated_obesity_and_neurodevelopmental_disorder PSMD11-associated obesity and neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 PSMD11-associated_obesity_and_neurodevelopmental_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene PSMD11 psmd11_related_disorders PSMD11-Related Disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 PSMD11-Related_Disorders 3 low_record_burden_interpretation_limited low_record_burden_gene PSMC5 psmc5_related_neurodevelopmental_proteasomopathy PSMC5-related Neurodevelopmental proteasomopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 PSMC5-related_Neurodevelopmental_proteasomopathy 3 low_record_burden_interpretation_limited low_record_burden_gene PSMC5 neurodevelopmental_disorders Neurodevelopmental disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorders 3 low_record_burden_interpretation_limited low_record_burden_gene PSMC5 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene PSMC3IP condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene PSMC3IP mondo_mondo_0009299_mesh_d023961_medgen_c0685837_omim_ps233300_orphanet_243 46 XX gonadal dysgenesis MONDO:MONDO:0009299,MeSH:D023961,MedGen:C0685837,OMIM:PS233300,Orphanet:243 1 1 1.0000 condition_record_support_limited 20 0 0 46_XX_gonadal_dysgenesis 5 low_record_burden_interpretation_limited low_record_burden_gene PSMC3 human_phenotype_ontology_hp_0008534_human_phenotype_ontology_hp_0008574_human_phenotype_ontology_hp_0008625_medgen_c4021533 Severe sensorineural hearing impairment Human_Phenotype_Ontology:HP:0008534,Human_Phenotype_Ontology:HP:0008574,Human_Phenotype_Ontology:HP:0008625,MedGen:C4021533 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_sensorineural_hearing_impairment 11 low_record_burden_interpretation_limited low_record_burden_gene PSMC3 human_phenotype_ontology_hp_0002126_mondo_mondo_0000087_medgen_c0266464_orphanet_35981 Polymicrogyria Human_Phenotype_Ontology:HP:0002126,MONDO:MONDO:0000087,MedGen:C0266464,Orphanet:35981 1 1 1.0000 condition_record_support_limited 20 0 1 Polymicrogyria 11 low_record_burden_interpretation_limited low_record_burden_gene PSMC3 human_phenotype_ontology_hp_0001655_mondo_mondo_0020439_medgen_c0016522 Patent foramen ovale Human_Phenotype_Ontology:HP:0001655,MONDO:MONDO:0020439,MedGen:C0016522 1 1 1.0000 condition_record_support_limited 20 0 1 Patent_foramen_ovale 11 low_record_burden_interpretation_limited low_record_burden_gene PSMC3 human_phenotype_ontology_hp_0001643_mondo_mondo_0011827_medgen_c0013274_omim_ps607411 Patent ductus arteriosus Human_Phenotype_Ontology:HP:0001643,MONDO:MONDO:0011827,MedGen:C0013274,OMIM:PS607411 1 1 1.0000 condition_record_support_limited 20 0 1 Patent_ductus_arteriosus 11 low_record_burden_interpretation_limited low_record_burden_gene PSMC3 psmc3_related_neurodevelopmental_delay PSMC3-Related Neurodevelopmental Delay . 1 1 1.0000 condition_record_support_limited 20 0 0 PSMC3-Related_Neurodevelopmental_Delay 11 low_record_burden_interpretation_limited low_record_burden_gene PSMC3 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 11 low_record_burden_interpretation_limited low_record_burden_gene PSMC3 human_phenotype_ontology_hp_0000308_medgen_c1839546 Microretrognathia Human_Phenotype_Ontology:HP:0000308,MedGen:C1839546 1 1 1.0000 condition_record_support_limited 20 0 1 Microretrognathia 11 low_record_burden_interpretation_limited low_record_burden_gene PSMC3 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 11 low_record_burden_interpretation_limited low_record_burden_gene PSMC3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene PSMC3 human_phenotype_ontology_hp_0009890_medgen_c3276036 High anterior hairline Human_Phenotype_Ontology:HP:0009890,MedGen:C3276036 1 1 1.0000 condition_record_support_limited 20 0 1 High_anterior_hairline 11 low_record_burden_interpretation_limited low_record_burden_gene PSMC3 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 11 low_record_burden_interpretation_limited low_record_burden_gene PSMC3 human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive 11 low_record_burden_interpretation_limited low_record_burden_gene PSMC3 human_phenotype_ontology_hp_0001385_human_phenotype_ontology_hp_0008787_mondo_mondo_0000158_medgen_c4551649_omim_ps142700 Developmental dysplasia of the hip Human_Phenotype_Ontology:HP:0001385,Human_Phenotype_Ontology:HP:0008787,MONDO:MONDO:0000158,MedGen:C4551649,OMIM:PS142700 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_dysplasia_of_the_hip 11 low_record_burden_interpretation_limited low_record_burden_gene PSMC3 human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_cataract 11 low_record_burden_interpretation_limited low_record_burden_gene PSMC3 mondo_mondo_0859159_medgen_c5543482_omim_619354 Deafness, cataract, impaired intellectual development, and polyneuropathy MONDO:MONDO:0859159,MedGen:C5543482,OMIM:619354 1 1 1.0000 condition_record_support_limited 20 0 1 Deafness,_cataract,_impaired_intellectual_development,_and_polyneuropathy 11 low_record_burden_interpretation_limited low_record_burden_gene PSMC3 human_phenotype_ontology_hp_0001320_medgen_c1840379 Cerebellar vermis hypoplasia Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_vermis_hypoplasia 11 low_record_burden_interpretation_limited low_record_burden_gene PSMC3 human_phenotype_ontology_hp_0001684_human_phenotype_ontology_hp_0200131_mondo_mondo_0020434_medgen_c0344724_orphanet_99103 Atrial septal defect, ostium secundum type Human_Phenotype_Ontology:HP:0001684,Human_Phenotype_Ontology:HP:0200131,MONDO:MONDO:0020434,MedGen:C0344724,Orphanet:99103 1 1 1.0000 condition_record_support_limited 20 0 1 Atrial_septal_defect,_ostium_secundum_type 11 low_record_burden_interpretation_limited low_record_burden_gene PSMC3 human_phenotype_ontology_hp_0011718_mondo_mondo_0020295_medgen_c0265914_orphanet_98729 Abnormality of the pulmonary veins Human_Phenotype_Ontology:HP:0011718,MONDO:MONDO:0020295,MedGen:C0265914,Orphanet:98729 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_pulmonary_veins 11 low_record_burden_interpretation_limited low_record_burden_gene PSMC1 mondo_mondo_0859296_medgen_c5774229_omim_620071 Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss MONDO:MONDO:0859296,MedGen:C5774229,OMIM:620071 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_poor_growth,_spastic_tetraplegia,_and_hearing_loss 1 low_record_burden_interpretation_limited low_record_burden_gene PSMB9 proteasome_associated_autoinflammatory_syndrome_with_immunodeficiency_praas_id proteasome-associated autoinflammatory syndrome with immunodeficiency (PRAAS-ID) . 1 1 1.0000 condition_record_support_limited 20 0 1 proteasome-associated_autoinflammatory_syndrome_with_immunodeficiency_(PRAAS-ID) 2 low_record_burden_interpretation_limited low_record_burden_gene PSMB9 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene PSMB9 mondo_mondo_0968983_medgen_c5935614_omim_620796 Proteasome-associated autoinflammatory syndrome 6 MONDO:MONDO:0968983,MedGen:C5935614,OMIM:620796 1 1 1.0000 condition_record_support_limited 20 0 1 Proteasome-associated_autoinflammatory_syndrome_6 2 low_record_burden_interpretation_limited low_record_burden_gene PSMB8 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 21 compact_adjacent_exon_block_opportunity local_compact_architecture PSMB8 psmb8_related_disorder PSMB8-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PSMB8-related_disorder 21 compact_adjacent_exon_block_opportunity local_compact_architecture PSMB8 medgen_c4749059 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC MedGen:C4749059 1 1 1.0000 condition_record_support_limited 20 0 1 PROTEASOME-ASSOCIATED_AUTOINFLAMMATORY_SYNDROME_1,_DIGENIC 21 compact_adjacent_exon_block_opportunity local_compact_architecture PSMB8 mondo_mondo_0019751_medgen_c3890737_orphanet_93665 Autoinflammatory syndrome MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 1 1 1.0000 condition_record_support_limited 20 0 1 Autoinflammatory_syndrome 21 compact_adjacent_exon_block_opportunity local_compact_architecture PSMB4 mondo_mondo_0054699_medgen_c4747850_omim_617591 Proteasome-associated autoinflammatory syndrome 3 MONDO:MONDO:0054699,MedGen:C4747850,OMIM:617591 1 1 1.0000 condition_record_support_limited 20 0 0 Proteasome-associated_autoinflammatory_syndrome_3 2 low_record_burden_interpretation_limited low_record_burden_gene PSMB4 mondo_mondo_0054698_medgen_c4746851_omim_256040_orphanet_2615_orphanet_324977_orphanet_324999_orphanet_325004 Proteasome-associated autoinflammatory syndrome 1 MONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040,Orphanet:2615,Orphanet:324977,Orphanet:324999,Orphanet:325004 1 1 1.0000 condition_record_support_limited 20 0 0 Proteasome-associated_autoinflammatory_syndrome_1 2 low_record_burden_interpretation_limited low_record_burden_gene PSMB10 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene PSMB1 mondo_mondo_0859287_medgen_c5774216_omim_620038 Neurodevelopmental disorder with microcephaly, hypotonia, and absent language MONDO:MONDO:0859287,MedGen:C5774216,OMIM:620038 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_microcephaly,_hypotonia,_and_absent_language 1 low_record_burden_interpretation_limited low_record_burden_gene PSEN1 human_phenotype_ontology_hp_0002367_medgen_c0233763 Visual hallucination Human_Phenotype_Ontology:HP:0002367,MedGen:C0233763 1 1 1.0000 condition_record_support_limited 20 0 1 Visual_hallucination 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSEN1 mondo_mondo_0008535_medgen_c4551861_omim_187300_orphanet_774 Telangiectasia, hereditary hemorrhagic, type 1 MONDO:MONDO:0008535,MedGen:C4551861,OMIM:187300,Orphanet:774 1 1 1.0000 condition_record_support_limited 20 0 0 Telangiectasia,_hereditary_hemorrhagic,_type_1 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSEN1 human_phenotype_ontology_hp_0002313_human_phenotype_ontology_hp_0007191_medgen_c0037771 Spastic paraparesis Human_Phenotype_Ontology:HP:0002313,Human_Phenotype_Ontology:HP:0007191,MedGen:C0037771 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_paraparesis 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSEN1 medgen_c3697680 Early onset Alzheimer disease with behavioral disturbance MedGen:C3697680 1 1 1.0000 condition_record_support_limited 20 0 1 Early_onset_Alzheimer_disease_with_behavioral_disturbance 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSEN1 human_phenotype_ontology_hp_0000714_human_phenotype_ontology_hp_0008765_medgen_c0233762 Auditory hallucination Human_Phenotype_Ontology:HP:0000714,Human_Phenotype_Ontology:HP:0008765,MedGen:C0233762 1 1 1.0000 condition_record_support_limited 20 0 1 Auditory_hallucination 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSEN1 medgen_c4015782 Alzheimer disease familial 3, with spastic paraparesis MedGen:C4015782 1 1 1.0000 condition_record_support_limited 20 0 1 Alzheimer_disease_familial_3,_with_spastic_paraparesis 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSEN1 adult_onset_neurodegenerative_disorder Adult onset neurodegenerative disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 Adult_onset_neurodegenerative_disorder 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSEN1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PSD condition_not_provided condition not provided MedGen:CN169374 1 1 1.0000 condition_record_support_limited 20 1 1 not_specified 1 low_record_burden_interpretation_limited low_record_burden_gene PSD mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_Immunodeficiency_Diseases 1 low_record_burden_interpretation_limited low_record_burden_gene PSD mondo_mondo_0014260_medgen_c3809991_omim_615577 Immunodeficiency, common variable, 10 MONDO:MONDO:0014260,MedGen:C3809991,OMIM:615577 1 1 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency,_common_variable,_10 1 low_record_burden_interpretation_limited low_record_burden_gene PSD mondo_mondo_0015517_medgen_c0009447_omim_ps607594_orphanet_1572 Common variable immunodeficiency MONDO:MONDO:0015517,MedGen:C0009447,OMIM:PS607594,Orphanet:1572 1 1 1.0000 condition_record_support_limited 20 0 1 Common_variable_immunodeficiency 1 low_record_burden_interpretation_limited low_record_burden_gene PSAT1 mondo_mondo_0018162_medgen_c5680148_orphanet_35705 Neurometabolic disorder due to serine deficiency MONDO:MONDO:0018162,MedGen:C5680148,Orphanet:35705 1 1 1.0000 condition_record_support_limited 20 0 1 Neurometabolic_disorder_due_to_serine_deficiency 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRX human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 1.0000 condition_record_support_limited 20 0 0 Tip-toe_gait 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRX human_phenotype_ontology_hp_0007133_human_phenotype_ontology_hp_0007329_medgen_c1859178 Progressive peripheral neuropathy Human_Phenotype_Ontology:HP:0007133,Human_Phenotype_Ontology:HP:0007329,MedGen:C1859178 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_peripheral_neuropathy 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRX human_phenotype_ontology_hp_0002142_human_phenotype_ontology_hp_0007240_medgen_c1843885 Progressive gait ataxia Human_Phenotype_Ontology:HP:0002142,Human_Phenotype_Ontology:HP:0007240,MedGen:C1843885 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_gait_ataxia 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRX human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Peripheral neuropathy Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 1.0000 condition_record_support_limited 20 0 1 Peripheral_neuropathy 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRX mondo_mondo_0018150_medgen_c0017205_orphanet_355 Gaucher disease MONDO:MONDO:0018150,MedGen:C0017205,Orphanet:355 1 1 1.0000 condition_record_support_limited 20 0 1 Gaucher_disease 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRX human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_cataract 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRSS56 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRSS56 prss56_related_disorder PRSS56-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PRSS56-related_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRSS23 fzd4_related_disorder FZD4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FZD4-related_disorder 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRSS23 medgen_c1858262 Exudative vitreoretinopathy, digenic MedGen:C1858262 1 1 1.0000 condition_record_support_limited 20 0 1 Exudative_vitreoretinopathy,_digenic 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRSS23 human_phenotype_ontology_hp_6000262_mondo_mondo_0010691_medgen_c0266526_omim_310600_orphanet_649 Atrophia bulborum hereditaria Human_Phenotype_Ontology:HP:6000262,MONDO:MONDO:0010691,MedGen:C0266526,OMIM:310600,Orphanet:649 1 1 1.0000 condition_record_support_limited 20 0 1 Atrophia_bulborum_hereditaria 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRSS1 human_phenotype_ontology_hp_0100027_medgen_c4551632 Recurrent pancreatitis Human_Phenotype_Ontology:HP:0100027,MedGen:C4551632 1 1 1.0000 condition_record_support_limited 20 0 1 Recurrent_pancreatitis 11 low_record_burden_interpretation_limited low_record_burden_gene PRRX1 human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 1.0000 condition_record_support_limited 20 0 0 Craniosynostosis_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene PRRT2 mondo_mondo_0100024_medgen_cn322666 Self-limited familial infantile epilepsy MONDO:MONDO:0100024,MedGen:CN322666 1 1 1.0000 condition_record_support_limited 20 0 1 Self-limited_familial_infantile_epilepsy 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRRT2 mondo_mondo_0700089_medgen_c4551506_omim_118800_orphanet_98810 Paroxysmal nonkinesigenic dyskinesia 1 MONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800,Orphanet:98810 1 1 1.0000 condition_record_support_limited 20 0 1 Paroxysmal_nonkinesigenic_dyskinesia_1 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRRT2 paroxysmal_central_nervous_system_disorders Paroxysmal central nervous system disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Paroxysmal_central_nervous_system_disorders 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRRT2 prrt2_associated_paroxysmal_movement_disorders PRRT2-Associated Paroxysmal Movement Disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 PRRT2-Associated_Paroxysmal_Movement_Disorders 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRRT2 prrt2_insufficiency PRRT2 insufficiency . 1 1 1.0000 condition_record_support_limited 20 0 1 PRRT2_insufficiency 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRRT2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRRT2 episodic_kinesigenic_dyskinesia_and_familial_infantile_convulsions_with_paroxysmal_choreoathetosis Episodic kinesigenic dyskinesia and familial infantile convulsions with paroxysmal choreoathetosis . 1 1 1.0000 condition_record_support_limited 20 0 1 Episodic_kinesigenic_dyskinesia_and_familial_infantile_convulsions_with_paroxysmal_choreoathetosis 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRRT2 medgen_c4048158 Convulsions MedGen:C4048158 1 1 1.0000 condition_record_support_limited 20 0 1 Convulsions 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRRT2 mondo_mondo_0042499_medgen_c4551769_omim_601764_orphanet_306 Benign familial neonatal-infantile seizures 1 MONDO:MONDO:0042499,MedGen:C4551769,OMIM:601764,Orphanet:306 1 1 1.0000 condition_record_support_limited 20 0 1 Benign_familial_neonatal-infantile_seizures_1 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRRT2 autosomal_dominant_prrt2_related_disorders Autosomal dominant PRRT2-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_PRRT2-related_disorders 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRR12 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 74 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PRPS1 prps1_related_disorder PRPS1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PRPS1-related_disorder 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPH2 medgen_c4016358 Retinitis punctata albescens, autosomal dominant MedGen:C4016358 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_punctata_albescens,_autosomal_dominant 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRPH2 mondo_mondo_1060144_medgen_c2675552 Retinitis pigmentosa 7, digenic MONDO:MONDO:1060144,MedGen:C2675552 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa_7,_digenic 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRPH2 medgen_c0271092 Progressive cone dystrophy (without rod involvement) MedGen:C0271092 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_cone_dystrophy_(without_rod_involvement) 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRPH2 human_phenotype_ontology_hp_0000580_human_phenotype_ontology_hp_0007702_human_phenotype_ontology_hp_0007821_human_phenotype_ontology_hp_0007869_human_phenotype_ontology_hp_0007961_human_phenotype_ontology_hp_0008010_medgen_c4551715 Pigmentary retinopathy Human_Phenotype_Ontology:HP:0000580,Human_Phenotype_Ontology:HP:0007702,Human_Phenotype_Ontology:HP:0007821,Human_Phenotype_Ontology:HP:0007869,Human_Phenotype_Ontology:HP:0007961,Human_Phenotype_Ontology:HP:0008010,MedGen:C4551715 1 1 1.0000 condition_record_support_limited 20 0 1 Pigmentary_retinopathy 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRPH2 prph2_associated_retinal_disease PRPH2-associated retinal disease . 1 1 1.0000 condition_record_support_limited 20 0 0 PRPH2-associated_retinal_disease 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRPH2 human_phenotype_ontology_hp_0000608_human_phenotype_ontology_hp_0007694_mondo_mondo_0003004_medgen_c0024437 Macular degeneration Human_Phenotype_Ontology:HP:0000608,Human_Phenotype_Ontology:HP:0007694,MONDO:MONDO:0003004,MedGen:C0024437 1 1 1.0000 condition_record_support_limited 20 0 1 Macular_degeneration 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRPH2 mondo_mondo_0957048_medgen_c5681367_orphanet_519302 Isolated macular dystrophy MONDO:MONDO:0957048,MedGen:C5681367,Orphanet:519302 1 1 1.0000 condition_record_support_limited 20 0 1 Isolated_macular_dystrophy 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRPH2 mondo_mondo_0007471_medgen_c1832174_omim_126600_orphanet_75376 Doyne honeycomb retinal dystrophy MONDO:MONDO:0007471,MedGen:C1832174,OMIM:126600,Orphanet:75376 1 1 1.0000 condition_record_support_limited 20 0 1 Doyne_honeycomb_retinal_dystrophy 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRPH2 mondo_mondo_0008982_medgen_c1536451_omim_ps215500_orphanet_75377 Central areolar choroidal dystrophy MONDO:MONDO:0008982,MedGen:C1536451,OMIM:PS215500,Orphanet:75377 1 1 1.0000 condition_record_support_limited 20 0 0 Central_areolar_choroidal_dystrophy 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRPH2 human_phenotype_ontology_hp_0000622_human_phenotype_ontology_hp_0007723_medgen_c0344232 Blurred vision Human_Phenotype_Ontology:HP:0000622,Human_Phenotype_Ontology:HP:0007723,MedGen:C0344232 1 1 1.0000 condition_record_support_limited 20 0 1 Blurred_vision 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRPH2 mondo_mondo_0012733_medgen_c3888198_omim_611809_orphanet_139455 Autosomal recessive bestrophinopathy MONDO:MONDO:0012733,MedGen:C3888198,OMIM:611809,Orphanet:139455 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_bestrophinopathy 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRPH2 human_phenotype_ontology_hp_0007703_human_phenotype_ontology_hp_0007741_human_phenotype_ontology_hp_0007743_human_phenotype_ontology_hp_0008051_medgen_c1862475 Abnormal retinal pigmentation Human_Phenotype_Ontology:HP:0007703,Human_Phenotype_Ontology:HP:0007741,Human_Phenotype_Ontology:HP:0007743,Human_Phenotype_Ontology:HP:0008051,MedGen:C1862475 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_retinal_pigmentation 361 compact_adjacent_exon_block_opportunity local_compact_architecture PRPF8 medgen_c0339525 Autosomal dominant retinitis pigmentosa MedGen:C0339525 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_retinitis_pigmentosa 77 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PRPF6 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 2 low_record_burden_interpretation_limited low_record_burden_gene PRPF6 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 2 low_record_burden_interpretation_limited low_record_burden_gene PRPF4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene PRPF4 mondo_mondo_0014400_medgen_c4014681_omim_615922_orphanet_791 Retinitis pigmentosa 70 MONDO:MONDO:0014400,MedGen:C4014681,OMIM:615922,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa_70 1 low_record_burden_interpretation_limited low_record_burden_gene PRPF4 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 1 low_record_burden_interpretation_limited low_record_burden_gene PRPF31 early_onset_retinitis_pigmentosa Early-onset retinitis pigmentosa . 1 1 1.0000 condition_record_support_limited 20 0 1 Early-onset_retinitis_pigmentosa 261 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPF31 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy 261 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRPF19 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 1 low_record_burden_interpretation_limited low_record_burden_gene PRPF18 mondo_mondo_0014787_medgen_c4225193_omim_616819_orphanet_466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome MONDO:MONDO:0014787,MedGen:C4225193,OMIM:616819,Orphanet:466688 1 1 1.0000 condition_record_support_limited 20 0 0 Severe_intellectual_disability-corpus_callosum_agenesis-facial_dysmorphism-cerebellar_ataxia_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene PROS1 mondo_mondo_0019144_medgen_c2584611_orphanet_743 Hereditary thrombophilia due to congenital protein S deficiency MONDO:MONDO:0019144,MedGen:C2584611,Orphanet:743 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_thrombophilia_due_to_congenital_protein_S_deficiency 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRORP mondo_mondo_0009300_medgen_c4551721_omim_233400_orphanet_2855_orphanet_642945 Perrault syndrome 1 MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400,Orphanet:2855,Orphanet:642945 1 1 1.0000 condition_record_support_limited 20 0 1 Perrault_syndrome_1 6 low_record_burden_interpretation_limited low_record_burden_gene PROP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROP1 mondo_mondo_0016674_medgen_c4510744_orphanet_251510 46,XY partial gonadal dysgenesis MONDO:MONDO:0016674,MedGen:C4510744,Orphanet:251510 1 1 1.0000 condition_record_support_limited 20 0 1 46,XY_partial_gonadal_dysgenesis 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROM1 mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 Usher syndrome MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 1 1 1.0000 condition_record_support_limited 20 0 0 Usher_syndrome 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROM1 human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 1.0000 condition_record_support_limited 20 0 1 Macular_dystrophy 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROM1 mondo_mondo_0957048_medgen_c5681367_orphanet_519302 Isolated macular dystrophy MONDO:MONDO:0957048,MedGen:C5681367,Orphanet:519302 1 1 1.0000 condition_record_support_limited 20 0 0 Isolated_macular_dystrophy 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROKR2 prokr2_related_disorder PROKR2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PROKR2-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene PROKR2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 13 low_record_burden_interpretation_limited low_record_burden_gene PROKR2 mondo_mondo_0007844_medgen_c1563720_omim_147950_orphanet_478 Hypogonadotropic hypogonadism 2 with or without anosmia MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478 1 1 1.0000 condition_record_support_limited 20 0 1 Hypogonadotropic_hypogonadism_2_with_or_without_anosmia 13 low_record_burden_interpretation_limited low_record_burden_gene PROK2 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 1 1 1.0000 condition_record_support_limited 20 0 1 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 10 low_record_burden_interpretation_limited low_record_burden_gene PROK2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 10 low_record_burden_interpretation_limited low_record_burden_gene PRODH mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 19 low_record_burden_interpretation_limited low_record_burden_gene PROC thrombophilia_3_due_to_protein_c_deficiency Thrombophilia 3 due to protein C deficiency . 1 1 1.0000 condition_record_support_limited 20 0 0 Thrombophilia_3_due_to_protein_C_deficiency 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROC human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_palsy 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PROC human_phenotype_ontology_hp_0001977_medgen_c4025731 Abnormal thrombosis Human_Phenotype_Ontology:HP:0001977,MedGen:C4025731 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_thrombosis 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRNP prnp_associated_condition PRNP-associated condition . 1 1 1.0000 condition_record_support_limited 20 0 0 PRNP-associated_condition 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRMT9 prmt9_associated_neurodevelopmental_disorder PRMT9-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 PRMT9-associated_neurodevelopmental_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene PRMT7 prmt7_related_disorder PRMT7-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PRMT7-related_disorder 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRLR mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 4 low_record_burden_interpretation_limited low_record_burden_gene PRKRA condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene PRKRA prkra_related_disorder PRKRA-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PRKRA-related_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene PRKN mondo_mondo_0010360_medgen_c1845165_omim_300557_orphanet_2828 Parkinson disease 12 MONDO:MONDO:0010360,MedGen:C1845165,OMIM:300557,Orphanet:2828 1 1 1.0000 condition_record_support_limited 20 0 1 Parkinson_disease_12 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKN mondo_mondo_0005180_mesh_d010300_medgen_c0030567_omim_ps168600 Parkinson disease MONDO:MONDO:0005180,MeSH:D010300,MedGen:C0030567,OMIM:PS168600 1 1 1.0000 condition_record_support_limited 20 0 0 Parkinson_disease 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKN mondo_mondo_0005138_medgen_c0684249 Lung carcinoma MONDO:MONDO:0005138,MedGen:C0684249 1 1 1.0000 condition_record_support_limited 20 0 1 Lung_carcinoma 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKN human_phenotype_ontology_hp_0030078_mondo_mondo_0005061_mesh_d000077192_medgen_c0152013 Lung adenocarcinoma Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013 1 1 1.0000 condition_record_support_limited 20 0 1 Lung_adenocarcinoma 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKN mondo_mondo_0011860_medgen_c1843632_omim_607572_orphanet_548 Leprosy, susceptibility to, 2 MONDO:MONDO:0011860,MedGen:C1843632,OMIM:607572,Orphanet:548 1 1 1.0000 condition_record_support_limited 20 0 1 Leprosy,_susceptibility_to,_2 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKN mondo_mondo_0008200_medgen_c1868595_omim_168601 Autosomal dominant Parkinson disease 1 MONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_Parkinson_disease_1 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKN mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKG2 mondo_mondo_0030487_medgen_c5562030_omim_619638 Spondylometaphyseal dysplasia, pagnamenta type MONDO:MONDO:0030487,MedGen:C5562030,OMIM:619638 1 1 1.0000 condition_record_support_limited 20 0 0 Spondylometaphyseal_dysplasia,_pagnamenta_type 9 low_record_burden_interpretation_limited low_record_burden_gene PRKG1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene PRKG1 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 1 low_record_burden_interpretation_limited low_record_burden_gene PRKG1 mondo_mondo_0014187_medgen_c3809513_omim_615436 Aortic aneurysm, familial thoracic 8 MONDO:MONDO:0014187,MedGen:C3809513,OMIM:615436 1 1 1.0000 condition_record_support_limited 20 0 1 Aortic_aneurysm,_familial_thoracic_8 1 low_record_burden_interpretation_limited low_record_burden_gene PRKDC medgen_c4016698 Immunodeficiency 26 without neurologic abnormalities MedGen:C4016698 1 1 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency_26_without_neurologic_abnormalities 3 low_record_burden_interpretation_limited low_record_burden_gene PRKD1 condition_not_provided condition not provided MedGen:CN169374 1 1 1.0000 condition_record_support_limited 20 1 0 not_specified 10 low_record_burden_interpretation_limited low_record_burden_gene PRKCSH prkcsh_related_disorder PRKCSH-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PRKCSH-related_disorder 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKCSH mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKCE condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene PRKCE prkce_associated_disorder PRKCE-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 PRKCE-associated_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene PRKCB human_phenotype_ontology_hp_0000397_human_phenotype_ontology_hp_0000406_human_phenotype_ontology_hp_0000408_human_phenotype_ontology_hp_0008592_human_phenotype_ontology_hp_0008601_human_phenotype_ontology_hp_0008617_medgen_c1843156 Progressive sensorineural hearing impairment Human_Phenotype_Ontology:HP:0000397,Human_Phenotype_Ontology:HP:0000406,Human_Phenotype_Ontology:HP:0000408,Human_Phenotype_Ontology:HP:0008592,Human_Phenotype_Ontology:HP:0008601,Human_Phenotype_Ontology:HP:0008617,MedGen:C1843156 1 1 1.0000 condition_record_support_limited 20 0 0 Progressive_sensorineural_hearing_impairment 1 low_record_burden_interpretation_limited low_record_burden_gene PRKAR1B mondo_mondo_0013940_medgen_c3543825_omim_614874_orphanet_244 Primary ciliary dyskinesia 18 MONDO:MONDO:0013940,MedGen:C3543825,OMIM:614874,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_ciliary_dyskinesia_18 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAR1B prkar1b_related_neurodevelopmental_disorder PRKAR1B-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PRKAR1B-related_neurodevelopmental_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAR1A mondo_mondo_0029141_medgen_c4748364_omim_618144 Usher syndrome, type 4 MONDO:MONDO:0029141,MedGen:C4748364,OMIM:618144 1 1 1.0000 condition_record_support_limited 20 0 1 Usher_syndrome,_type_4 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAR1A fam20a_related_disorder FAM20A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FAM20A-related_disorder 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAR1A mondo_mondo_0012434_medgen_c1857777_omim_610193 Arrhythmogenic right ventricular dysplasia 10 MONDO:MONDO:0012434,MedGen:C1857777,OMIM:610193 1 1 1.0000 condition_record_support_limited 20 0 0 Arrhythmogenic_right_ventricular_dysplasia_10 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAR1A albright_hereditary_osteodystrophy_pseudohypoparathyroidism_pseudopseudohypoparathyroidism_acrodysostosis_and_osteoma_cutis Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis . 1 1 1.0000 condition_record_support_limited 20 0 1 Albright_hereditary_osteodystrophy,_pseudohypoparathyroidism,_pseudopseudohypoparathyroidism,_acrodysostosis_and_osteoma_cutis 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAR1A medgen_c4016392 Adrenocortical tumor, somatic MedGen:C4016392 1 1 1.0000 condition_record_support_limited 20 0 0 Adrenocortical_tumor,_somatic 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAG2 medgen_c4016809 Wolff-Parkinson-White syndrome, childhood-onset MedGen:C4016809 1 1 1.0000 condition_record_support_limited 20 0 1 Wolff-Parkinson-White_syndrome,_childhood-onset 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAG2 human_phenotype_ontology_hp_0001716_mondo_mondo_0008685_medgen_c0043202_omim_194200 Wolff-Parkinson-White pattern Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200 1 1 1.0000 condition_record_support_limited 20 0 1 Wolff-Parkinson-White_pattern 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAG2 mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 Primary familial hypertrophic cardiomyopathy MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_familial_hypertrophic_cardiomyopathy 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAG2 prkag2_syndrome PRKAG2 syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 PRKAG2_syndrome 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKAG2 familial_hypertrophic_cardiomyopathy_with_wolff_parkinson_white_syndrome Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome MedGen:CN239247 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRKACA mondo_mondo_0030876_medgen_c5436885_omim_619142 Cardioacrofacial dysplasia 1 MONDO:MONDO:0030876,MedGen:C5436885,OMIM:619142 1 1 1.0000 condition_record_support_limited 20 0 1 Cardioacrofacial_dysplasia_1 3 low_record_burden_interpretation_limited low_record_burden_gene PRKACA mondo_mondo_0800377_medgen_cn322664 ACTH-independent adrenal Cushing syndrome, somatic MONDO:MONDO:0800377,MedGen:CN322664 1 1 1.0000 condition_record_support_limited 20 0 1 ACTH-independent_adrenal_Cushing_syndrome,_somatic 3 low_record_burden_interpretation_limited low_record_burden_gene PRIM1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene PRICKLE2 medgen_c5190799_orphanet_402082 Progressive myoclonic epilepsy type 5 MedGen:C5190799,Orphanet:402082 1 1 1.0000 condition_record_support_limited 20 0 0 Progressive_myoclonic_epilepsy_type_5 5 low_record_burden_interpretation_limited low_record_burden_gene PRICKLE1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene PRG4 human_phenotype_ontology_hp_0000924_medgen_c4021790 Abnormality of the skeletal system Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_skeletal_system 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRF1 mondo_mondo_0009974_medgen_c4551514_omim_267700_orphanet_540 Familial hemophagocytic lymphohistiocytosis type 1 MONDO:MONDO:0009974,MedGen:C4551514,OMIM:267700,Orphanet:540 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_hemophagocytic_lymphohistiocytosis_type_1 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PREX2 human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Cerebral arteriovenous malformation Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_arteriovenous_malformation 1 low_record_burden_interpretation_limited low_record_burden_gene PREPL human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Premature ovarian insufficiency Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_insufficiency 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRDX3 mondo_mondo_0015244_medgen_c5575375_omim_ps213200_orphanet_1172 Autosomal recessive cerebellar ataxia MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200,Orphanet:1172 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_cerebellar_ataxia 10 low_record_burden_interpretation_limited low_record_burden_gene PRDX1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene PRDX1 mondo_mondo_0010184_medgen_c1848561_omim_277400_orphanet_26_orphanet_79282 Cobalamin C disease MONDO:MONDO:0010184,MedGen:C1848561,OMIM:277400,Orphanet:26,Orphanet:79282 1 1 1.0000 condition_record_support_limited 20 0 1 Cobalamin_C_disease 2 low_record_burden_interpretation_limited low_record_burden_gene PRDM8 mondo_mondo_0014717_medgen_c4225258_omim_616640_orphanet_324290 Early-onset Lafora body disease MONDO:MONDO:0014717,MedGen:C4225258,OMIM:616640,Orphanet:324290 1 1 1.0000 condition_record_support_limited 20 0 0 Early-onset_Lafora_body_disease 1 low_record_burden_interpretation_limited low_record_burden_gene PRDM5 prdm5_related_disorder PRDM5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PRDM5-related_disorder 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRDM5 mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 Ehlers-Danlos syndrome MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 1 1 1.0000 condition_record_support_limited 20 0 1 Ehlers-Danlos_syndrome 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PRDM2 human_phenotype_ontology_hp_0001371_human_phenotype_ontology_hp_0001372_human_phenotype_ontology_hp_0001381_human_phenotype_ontology_hp_0005053_human_phenotype_ontology_hp_0005189_human_phenotype_ontology_hp_0005660_medgen_c0333068 Flexion contracture Human_Phenotype_Ontology:HP:0001371,Human_Phenotype_Ontology:HP:0001372,Human_Phenotype_Ontology:HP:0001381,Human_Phenotype_Ontology:HP:0005053,Human_Phenotype_Ontology:HP:0005189,Human_Phenotype_Ontology:HP:0005660,MedGen:C0333068 1 1 1.0000 condition_record_support_limited 20 0 0 Flexion_contracture 1 low_record_burden_interpretation_limited low_record_burden_gene PRDM16 prdm16_related_congenital_heart_disease PRDM16-related congenital heart disease . 1 1 1.0000 condition_record_support_limited 20 0 1 PRDM16-related_congenital_heart_disease 16 low_record_burden_interpretation_limited low_record_burden_gene PRDM16 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 16 low_record_burden_interpretation_limited low_record_burden_gene PRDM16 mondo_mondo_0800367_medgen_c3809289 Cardiomyopathy, dilated, 1LL MONDO:MONDO:0800367,MedGen:C3809289 1 1 1.0000 condition_record_support_limited 20 0 0 Cardiomyopathy,_dilated,_1LL 16 low_record_burden_interpretation_limited low_record_burden_gene PRDM15 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene PRDM15 mondo_mondo_0000594_medgen_c0524528_orphanet_168778 Pervasive developmental disorder MONDO:MONDO:0000594,MedGen:C0524528,Orphanet:168778 1 1 1.0000 condition_record_support_limited 20 0 1 Pervasive_developmental_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene PRDM13 maculopathy maculopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 maculopathy 7 low_record_burden_interpretation_limited low_record_burden_gene PRDM13 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 7 low_record_burden_interpretation_limited low_record_burden_gene PRDM13 mondo_mondo_0859229_medgen_c5676924_omim_619761 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism MONDO:MONDO:0859229,MedGen:C5676924,OMIM:619761 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebellar_dysfunction,_impaired_intellectual_development,_and_hypogonadotropic_hypogonadism 7 low_record_burden_interpretation_limited low_record_burden_gene PRDM12 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 16 low_record_burden_interpretation_limited low_record_burden_gene PRB3 prb3s_cys PRB3S(CYS) . 1 1 1.0000 condition_record_support_limited 20 0 0 PRB3S(CYS) 2 low_record_burden_interpretation_limited low_record_burden_gene PRB3 prb3m_null PRB3M(NULL) . 1 1 1.0000 condition_record_support_limited 20 0 0 PRB3M(NULL) 2 low_record_burden_interpretation_limited low_record_burden_gene PQBP1 human_phenotype_ontology_hp_0000752_human_phenotype_ontology_hp_0008764_medgen_c0424295 Hyperactivity Human_Phenotype_Ontology:HP:0000752,Human_Phenotype_Ontology:HP:0008764,MedGen:C0424295 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperactivity 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PQBP1 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PQBP1 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPT1 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_ataxia 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPT1 neuronal_ceroid_lipofuscinosis_recessive Neuronal Ceroid-Lipofuscinosis, Recessive . 1 1 1.0000 condition_record_support_limited 20 0 1 Neuronal_Ceroid-Lipofuscinosis,_Recessive 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPT1 mondo_mondo_0060596_medgen_c4540327_omim_617755_orphanet_686482 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies MONDO:MONDO:0060596,MedGen:C4540327,OMIM:617755,Orphanet:686482 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_dysmorphic_facies_and_distal_limb_anomalies 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPT1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP6R2 mondo_mondo_0014117_medgen_c3695063_omim_615284_orphanet_363981 Charcot-Marie-Tooth disease type 4B3 MONDO:MONDO:0014117,MedGen:C3695063,OMIM:615284,Orphanet:363981 1 1 1.0000 condition_record_support_limited 20 0 0 Charcot-Marie-Tooth_disease_type_4B3 1 low_record_burden_interpretation_limited low_record_burden_gene PPP3CA human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP3CA ppp3ca_related_disorder PPP3CA-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 PPP3CA-related_disorder 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP3CA human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP3CA human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 1 Epileptic_encephalopathy 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP2R5D human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP2R5D human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP2R5D human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP2R5D human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP2R5D human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP2R5D mondo_mondo_0100062_medgen_cn379639_omim_ps308350 Genetic developmental and epileptic encephalopathy MONDO:MONDO:0100062,MedGen:CN379639,OMIM:PS308350 1 1 1.0000 condition_record_support_limited 20 0 1 Genetic_developmental_and_epileptic_encephalopathy 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP2R5D human_phenotype_ontology_hp_0001298_medgen_c0085584 Encephalopathy Human_Phenotype_Ontology:HP:0001298,MedGen:C0085584 1 1 1.0000 condition_record_support_limited 20 0 0 Encephalopathy 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP2R5C ppp2r5c_related_neurodevelopmental_disorder PPP2R5C-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PPP2R5C-related_neurodevelopmental_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene PPP2R5C mondo_mondo_0014602_medgen_c5779996_omim_616355_orphanet_457279 Hogue-Janssens syndrome 1 MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279 1 1 1.0000 condition_record_support_limited 20 0 1 Hogue-Janssens_syndrome_1 5 low_record_burden_interpretation_limited low_record_burden_gene PPP2R5C human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 5 low_record_burden_interpretation_limited low_record_burden_gene PPP2R3C fam177a1_related_disorder FAM177A1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 FAM177A1-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene PPP2R1B mondo_mondo_0005138_medgen_c0684249 Lung carcinoma MONDO:MONDO:0005138,MedGen:C0684249 1 1 1.0000 condition_record_support_limited 20 0 0 Lung_carcinoma 1 low_record_burden_interpretation_limited low_record_burden_gene PPP2R1A ppp2r1a_related_neurodevelopmental_disorders PPP2R1A-related neurodevelopmental disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 PPP2R1A-related_neurodevelopmental_disorders 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP2R1A mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP2R1A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP2CA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP1R3F condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene PPP1R3F ppp1r3f_related_neurodevelopmental_disorder PPP1R3F-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 PPP1R3F-related_neurodevelopmental_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene PPP1R35 human_phenotype_ontology_hp_0000253_medgen_c1850456 Progressive microcephaly Human_Phenotype_Ontology:HP:0000253,MedGen:C1850456 1 1 1.0000 condition_record_support_limited 20 0 0 Progressive_microcephaly 1 low_record_burden_interpretation_limited low_record_burden_gene PPP1R21 neurodevelopmental_disorder_with_hypotonia Neurodevelopmental disorder with hypotonia . 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_hypotonia 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP1R21 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP1R13L human_phenotype_ontology_hp_0000202_mondo_mondo_0000358_medgen_c3266076_omim_ps119530 Orofacial cleft Human_Phenotype_Ontology:HP:0000202,MONDO:MONDO:0000358,MedGen:C3266076,OMIM:PS119530 1 1 1.0000 condition_record_support_limited 20 0 1 Orofacial_cleft 12 low_record_burden_interpretation_limited low_record_burden_gene PPP1R13L omim_607463 OMIM:607463 . 1 1 1.0000 condition_record_support_limited 20 0 1 OMIM:607463 12 low_record_burden_interpretation_limited low_record_burden_gene PPP1R13L mondo_mondo_0019042_medgen_c5681310_orphanet_68341 Multiple congenital anomalies/dysmorphic syndrome MONDO:MONDO:0019042,MedGen:C5681310,Orphanet:68341 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_congenital_anomalies/dysmorphic_syndrome 12 low_record_burden_interpretation_limited low_record_burden_gene PPP1R13L cardio_cutaneous_syndrome Cardio-cutaneous syndrome MedGen:CN262501 1 1 1.0000 condition_record_support_limited 20 0 1 Cardio-cutaneous_syndrome 12 low_record_burden_interpretation_limited low_record_burden_gene PPP1R12A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP1R12A differences_in_sex_development Differences in sex development . 1 1 1.0000 condition_record_support_limited 20 0 0 Differences_in_sex_development 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPP1CB ppp1cb_related_disorder PPP1CB-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PPP1CB-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene PPP1CB mondo_mondo_0011899_medgen_c1843181_omim_ps607721_orphanet_2701 Noonan syndrome-like disorder with loose anagen hair MONDO:MONDO:0011899,MedGen:C1843181,OMIM:PS607721,Orphanet:2701 1 1 1.0000 condition_record_support_limited 20 0 1 Noonan_syndrome-like_disorder_with_loose_anagen_hair 14 low_record_burden_interpretation_limited low_record_burden_gene PPP1CB human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 14 low_record_burden_interpretation_limited low_record_burden_gene PPP1CB human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 14 low_record_burden_interpretation_limited low_record_burden_gene PPP1CB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 14 low_record_burden_interpretation_limited low_record_burden_gene PPP1CB mondo_mondo_0009072_mesh_d003616_medgen_c0010964_omim_220200_orphanet_217 Dandy-Walker syndrome MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217 1 1 1.0000 condition_record_support_limited 20 0 1 Dandy-Walker_syndrome 14 low_record_burden_interpretation_limited low_record_burden_gene PPOX human_phenotype_ontology_hp_0010473_medgen_c0151861 Porphyrinuria Human_Phenotype_Ontology:HP:0010473,MedGen:C0151861 1 1 1.0000 condition_record_support_limited 20 0 1 Porphyrinuria 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPOX human_phenotype_ontology_hp_0002076_human_phenotype_ontology_hp_0007194_mondo_mondo_0005277_medgen_c0149931 Migraine Human_Phenotype_Ontology:HP:0002076,Human_Phenotype_Ontology:HP:0007194,MONDO:MONDO:0005277,MedGen:C0149931 1 1 1.0000 condition_record_support_limited 20 0 1 Migraine 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPOX mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPOX human_phenotype_ontology_hp_0002019_human_phenotype_ontology_hp_0002241_human_phenotype_ontology_hp_0003786_mondo_mondo_0002203_medgen_c0009806 Constipation Human_Phenotype_Ontology:HP:0002019,Human_Phenotype_Ontology:HP:0002241,Human_Phenotype_Ontology:HP:0003786,MONDO:MONDO:0002203,MedGen:C0009806 1 1 1.0000 condition_record_support_limited 20 0 1 Constipation 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPOX human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPOX human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_metabolism/homeostasis 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPOX human_phenotype_ontology_hp_0012086_medgen_c0522153 Abnormal urinary color Human_Phenotype_Ontology:HP:0012086,MedGen:C0522153 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_urinary_color 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPOX human_phenotype_ontology_hp_0011848_medgen_c0232488 Abdominal colic Human_Phenotype_Ontology:HP:0011848,MedGen:C0232488 1 1 1.0000 condition_record_support_limited 20 0 1 Abdominal_colic 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPM1E mondo_mondo_0009664_medgen_c0524582_omim_253250_orphanet_2576 Mulibrey nanism syndrome MONDO:MONDO:0009664,MedGen:C0524582,OMIM:253250,Orphanet:2576 1 1 1.0000 condition_record_support_limited 20 0 0 Mulibrey_nanism_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene PPM1D ppm1d_related_disorder PPM1D-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 PPM1D-related_disorder 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPM1D mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPM1D human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPM1D mondo_mondo_0015802_medgen_c5680502_orphanet_178469 Autosomal dominant non-syndromic intellectual disability MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_non-syndromic_intellectual_disability 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPIL1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene PPIL1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene PPFIBP1 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 12 low_record_burden_interpretation_limited low_record_burden_gene PPFIA3 mondo_mondo_1040014_medgen_cn378762 PPFIA3-related neurodevelopmental disorder MONDO:MONDO:1040014,MedGen:CN378762 1 1 1.0000 condition_record_support_limited 20 0 1 PPFIA3-related_neurodevelopmental_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene PPFIA3 ppfia3_associated_neurodevelopmental_disorder PPFIA3-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 PPFIA3-associated_neurodevelopmental_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene PPCS condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene PPARG human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 1.0000 condition_record_support_limited 20 0 0 Obesity 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPARG human_phenotype_ontology_hp_0009125_mondo_mondo_0006573_medgen_c0023787 Lipodystrophy Human_Phenotype_Ontology:HP:0009125,MONDO:MONDO:0006573,MedGen:C0023787 1 1 1.0000 condition_record_support_limited 20 0 1 Lipodystrophy 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPARG medgen_c4016738 INSULIN RESISTANCE, DIGENIC MedGen:C4016738 1 1 1.0000 condition_record_support_limited 20 0 1 INSULIN_RESISTANCE,_DIGENIC 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPARG mondo_mondo_0020088_medgen_c0271694_omim_ps151660_orphanet_98306 Familial partial lipodystrophy MONDO:MONDO:0020088,MedGen:C0271694,OMIM:PS151660,Orphanet:98306 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_partial_lipodystrophy 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPARG medgen_c4017629 DIABETES MELLITUS, TYPE II, DIGENIC MedGen:C4017629 1 1 1.0000 condition_record_support_limited 20 0 1 DIABETES_MELLITUS,_TYPE_II,_DIGENIC 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PPARG medgen_c1836302_omim_609338 CAROTID INTIMAL MEDIAL THICKNESS 1 MedGen:C1836302,OMIM:609338 1 1 1.0000 condition_record_support_limited 20 0 1 CAROTID_INTIMAL_MEDIAL_THICKNESS_1 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POU4F3 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_deafness 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POU4F3 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POU4F3 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 0 Hearing_impairment 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POU4F3 autosomal_recessive_sensorineural_hearing_loss Autosomal recessive sensorineural hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_sensorineural_hearing_loss 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POU3F4 mondo_mondo_0019586_medgen_c5680192_orphanet_90625 X-linked nonsyndromic hearing loss MONDO:MONDO:0019586,MedGen:C5680192,Orphanet:90625 1 1 1.0000 condition_record_support_limited 20 0 0 X-linked_nonsyndromic_hearing_loss 107 single_exon_hotspot_opportunity local_compact_architecture POU3F4 pou3f4_related_disorder POU3F4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 POU3F4-related_disorder 107 single_exon_hotspot_opportunity local_compact_architecture POU3F4 monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 0 Monogenic_hearing_loss 107 single_exon_hotspot_opportunity local_compact_architecture POU3F4 human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 1.0000 condition_record_support_limited 20 0 0 Ear_malformation 107 single_exon_hotspot_opportunity local_compact_architecture POU3F4 autosomal_recessive_sensorineural_hearing_loss Autosomal recessive sensorineural hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_sensorineural_hearing_loss 107 single_exon_hotspot_opportunity local_compact_architecture POU3F3 pou3f3_related_disorder POU3F3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 POU3F3-related_disorder 52 single_exon_hotspot_opportunity local_compact_architecture POU3F3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 52 single_exon_hotspot_opportunity local_compact_architecture POU3F3 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_disorder 52 single_exon_hotspot_opportunity local_compact_architecture POU3F2 pou3f2_associated_disorder POU3F2-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 POU3F2-associated_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene POU1F1 mondo_mondo_0011473_medgen_c1858301_omim_604537_orphanet_65 Leber congenital amaurosis 5 MONDO:MONDO:0011473,MedGen:C1858301,OMIM:604537,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 0 Leber_congenital_amaurosis_5 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POU1F1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POT1 mondo_mondo_0033004_medgen_c4540575_omim_263200 Polycystic kidney disease 4 MONDO:MONDO:0033004,MedGen:C4540575,OMIM:263200 1 1 1.0000 condition_record_support_limited 20 0 1 Polycystic_kidney_disease_4 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POT1 pot1_related_disorder POT1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 POT1-related_disorder 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POT1 mondo_mondo_0858958_medgen_c5670122 High-grade astrocytoma with piloid features MONDO:MONDO:0858958,MedGen:C5670122 1 1 1.0000 condition_record_support_limited 20 0 1 High-grade_astrocytoma_with_piloid_features 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POT1 mondo_mondo_0015780_medgen_c0265965_omim_ps127550_orphanet_1775 Dyskeratosis congenita MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775 1 1 1.0000 condition_record_support_limited 20 0 0 Dyskeratosis_congenita 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PORCN porcn_related_developmental_disorders PORCN-related developmental disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 PORCN-related_developmental_disorders 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PORCN human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PORCN medgen_c5680330_orphanet_98555 Anophthalmia-microphthalmia syndrome MedGen:C5680330,Orphanet:98555 1 1 1.0000 condition_record_support_limited 20 0 1 Anophthalmia-microphthalmia_syndrome 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POR mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POR mondo_mondo_0011049_medgen_c0795941_omim_601353_orphanet_1272 Fine-Lubinsky syndrome MONDO:MONDO:0011049,MedGen:C0795941,OMIM:601353,Orphanet:1272 1 1 1.0000 condition_record_support_limited 20 0 0 Fine-Lubinsky_syndrome 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POPDC1 human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Limb-girdle muscular dystrophy Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 1.0000 condition_record_support_limited 20 0 1 Limb-girdle_muscular_dystrophy 6 low_record_burden_interpretation_limited low_record_burden_gene POP1 pop1_related_disorder POP1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 POP1-related_disorder 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT2 medgen_c5679924_orphanet_352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies MedGen:C5679924,Orphanet:352687 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_muscular_alpha-dystroglycanopathy_with_brain_and_eye_anomalies 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT2 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT1 human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Ventriculomegaly Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 1 1 1.0000 condition_record_support_limited 20 0 1 Ventriculomegaly 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT1 mondo_mondo_0000173_medgen_cn262500_omim_ps609308 Muscular dystrophy-dystroglycanopathy, type C MONDO:MONDO:0000173,MedGen:CN262500,OMIM:PS609308 1 1 1.0000 condition_record_support_limited 20 0 1 Muscular_dystrophy-dystroglycanopathy,_type_C 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT1 mondo_mondo_0014489_medgen_c4015184_omim_616094_orphanet_445110 Limb-girdle muscular dystrophy due to POMK deficiency MONDO:MONDO:0014489,MedGen:C4015184,OMIM:616094,Orphanet:445110 1 1 1.0000 condition_record_support_limited 20 0 1 Limb-girdle_muscular_dystrophy_due_to_POMK_deficiency 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT1 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMT1 human_phenotype_ontology_hp_0002363_medgen_c1850601 Abnormal brainstem morphology Human_Phenotype_Ontology:HP:0002363,MedGen:C1850601 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brainstem_morphology 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMGNT2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMGNT1 human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Hydrocephalus Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 1.0000 condition_record_support_limited 20 0 1 Hydrocephalus 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMGNT1 medgen_c5679924_orphanet_352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies MedGen:C5679924,Orphanet:352687 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_muscular_alpha-dystroglycanopathy_with_brain_and_eye_anomalies 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMGNT1 autosomal_recessive_pomgnt1_related_disorders Autosomal recessive POMGNT1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_POMGNT1-related_disorders 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POMC mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 19 low_record_burden_interpretation_limited low_record_burden_gene POLRMT mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene POLR3H mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3F mondo_mondo_0030813_medgen_c5676983_omim_619872 Immunodeficiency 101 (varicella zoster virus-specific) MONDO:MONDO:0030813,MedGen:C5676983,OMIM:619872 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_101_(varicella_zoster_virus-specific) 1 low_record_burden_interpretation_limited low_record_burden_gene POLR3B mondo_mondo_0859177_medgen_c5561955_omim_619472 VISS syndrome MONDO:MONDO:0859177,MedGen:C5561955,OMIM:619472 1 1 1.0000 condition_record_support_limited 20 0 1 VISS_syndrome 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3B human_phenotype_ontology_hp_0000044_human_phenotype_ontology_hp_0003335_human_phenotype_ontology_hp_0008224_mondo_mondo_0018555_medgen_c0271623_omim_ps147950_orphanet_432 Hypogonadotropic hypogonadism Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432 1 1 1.0000 condition_record_support_limited 20 0 1 Hypogonadotropic_hypogonadism 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3A human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_ataxia 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3A human_phenotype_ontology_hp_0001294_human_phenotype_ontology_hp_0100022_mondo_mondo_0005395_medgen_c0026650 Movement disorder Human_Phenotype_Ontology:HP:0001294,Human_Phenotype_Ontology:HP:0100022,MONDO:MONDO:0005395,MedGen:C0026650 1 1 1.0000 condition_record_support_limited 20 0 1 Movement_disorder 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3A mondo_mondo_0012824_medgen_c2677109_omim_612233_orphanet_280270_orphanet_280288 Hypomyelinating leukodystrophy 4 MONDO:MONDO:0012824,MedGen:C2677109,OMIM:612233,Orphanet:280270,Orphanet:280288 1 1 1.0000 condition_record_support_limited 20 0 0 Hypomyelinating_leukodystrophy_4 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR3A adult_onset_hereditary_spastic_paraplegia Adult onset hereditary spastic paraplegia . 1 1 1.0000 condition_record_support_limited 20 0 1 Adult_onset_hereditary_spastic_paraplegia 132 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR2F mondo_mondo_0018094_medgen_c3266898_omim_ps193500_orphanet_3440 Waardenburg syndrome MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500,Orphanet:3440 1 1 1.0000 condition_record_support_limited 20 0 0 Waardenburg_syndrome 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR2F human_phenotype_ontology_hp_0000044_human_phenotype_ontology_hp_0003335_human_phenotype_ontology_hp_0008224_mondo_mondo_0018555_medgen_c0271623_omim_ps147950_orphanet_432 Hypogonadotropic hypogonadism Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432 1 1 1.0000 condition_record_support_limited 20 0 1 Hypogonadotropic_hypogonadism 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR2F mondo_mondo_0007723_medgen_c3888239_omim_142623_orphanet_388 Hirschsprung disease, susceptibility to, 1 MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388 1 1 1.0000 condition_record_support_limited 20 0 0 Hirschsprung_disease,_susceptibility_to,_1 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR2F human_phenotype_ontology_hp_0002029_human_phenotype_ontology_hp_0002030_human_phenotype_ontology_hp_0002251_human_phenotype_ontology_hp_0002606_human_phenotype_ontology_hp_0004391_mondo_mondo_0018309_mesh_d006627_medgen_c0019569_omim_ps142623_orphanet_388 Aganglionic megacolon Human_Phenotype_Ontology:HP:0002029,Human_Phenotype_Ontology:HP:0002030,Human_Phenotype_Ontology:HP:0002251,Human_Phenotype_Ontology:HP:0002606,Human_Phenotype_Ontology:HP:0004391,MONDO:MONDO:0018309,MeSH:D006627,MedGen:C0019569,OMIM:PS142623,Orphanet:388 1 1 1.0000 condition_record_support_limited 20 0 0 Aganglionic_megacolon 229 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR2E human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene POLR2B human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Esophageal atresia/tracheoesophageal fistula Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 1.0000 condition_record_support_limited 20 0 0 Esophageal_atresia/tracheoesophageal_fistula 1 low_record_burden_interpretation_limited low_record_burden_gene POLR1D mondo_mondo_0002457_medgen_c0242387_omim_ps154500_orphanet_861 Treacher Collins syndrome MONDO:MONDO:0002457,MedGen:C0242387,OMIM:PS154500,Orphanet:861 1 1 1.0000 condition_record_support_limited 20 0 1 Treacher_Collins_syndrome 19 low_record_burden_interpretation_limited low_record_burden_gene POLR1C mondo_mondo_0014387_medgen_c4014588_omim_615889_orphanet_99853 Leukoencephalopathy, progressive, with ovarian failure MONDO:MONDO:0014387,MedGen:C4014588,OMIM:615889,Orphanet:99853 1 1 1.0000 condition_record_support_limited 20 0 0 Leukoencephalopathy,_progressive,_with_ovarian_failure 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR1C mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLR1A polr1a_related_disorder POLR1A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 POLR1A-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene POLR1A mondo_mondo_0958018_medgen_c5882743_omim_620675 Leukodystrophy, hypomyelinating, 27 MONDO:MONDO:0958018,MedGen:C5882743,OMIM:620675 1 1 1.0000 condition_record_support_limited 20 0 0 Leukodystrophy,_hypomyelinating,_27 10 low_record_burden_interpretation_limited low_record_burden_gene POLK condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLK mondo_mondo_0014599_medgen_c4225156_omim_616351 Intellectual disability, autosomal dominant 34 MONDO:MONDO:0014599,MedGen:C4225156,OMIM:616351 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_autosomal_dominant_34 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLH polh_related_disorder POLH-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 POLH-related_disorder 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLH mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLGARF medgen_c1328348 mitochondrial hepatopathy MedGen:C1328348 1 1 1.0000 condition_record_support_limited 20 0 0 mitochondrial_hepatopathy 61 compact_adjacent_exon_block_opportunity local_compact_architecture POLGARF mondo_mondo_0017575_medgen_c0872218_orphanet_298 Mitochondrial neurogastrointestinal encephalomyopathy MONDO:MONDO:0017575,MedGen:C0872218,Orphanet:298 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_neurogastrointestinal_encephalomyopathy 61 compact_adjacent_exon_block_opportunity local_compact_architecture POLGARF alpers_like_hepatocerebral_syndrome Alpers-like hepatocerebral syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 Alpers-like_hepatocerebral_syndrome 61 compact_adjacent_exon_block_opportunity local_compact_architecture POLGARF abnormality_of_corpus_callosum Abnormality of corpus callosum . 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_corpus_callosum 61 compact_adjacent_exon_block_opportunity local_compact_architecture POLG2 mondo_mondo_0030326_medgen_c5543632_omim_619425 Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) MONDO:MONDO:0030326,MedGen:C5543632,OMIM:619425 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_dna_depletion_syndrome_16B_(neuroophthalmic_type) 33 compact_adjacent_exon_block_opportunity local_compact_architecture POLG2 mondo_mondo_0032799_medgen_c5193142_omim_618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) MONDO:MONDO:0032799,MedGen:C5193142,OMIM:618528 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_DNA_depletion_syndrome_16_(hepatic_type) 33 compact_adjacent_exon_block_opportunity local_compact_architecture POLG medgen_c1328348 mitochondrial hepatopathy MedGen:C1328348 1 1 1.0000 condition_record_support_limited 20 0 0 mitochondrial_hepatopathy 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG mondo_mondo_0019791_medgen_c4760799_orphanet_94125 Recessive mitochondrial ataxia syndrome MONDO:MONDO:0019791,MedGen:C4760799,Orphanet:94125 1 1 1.0000 condition_record_support_limited 20 0 1 Recessive_mitochondrial_ataxia_syndrome 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG medgen_c1868097 Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic MedGen:C1868097 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_digenic 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG mondo_mondo_0000090_medgen_cn294859_omim_ps157640 Progressive external ophthalmoplegia with mitochondrial DNA deletions MONDO:MONDO:0000090,MedGen:CN294859,OMIM:PS157640 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 1.0000 condition_record_support_limited 20 0 1 Obesity 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG human_phenotype_ontology_hp_0032807_medgen_c0159020 Neonatal seizure Human_Phenotype_Ontology:HP:0032807,MedGen:C0159020 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_seizure 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG mondo_mondo_0017575_medgen_c0872218_orphanet_298 Mitochondrial neurogastrointestinal encephalomyopathy MONDO:MONDO:0017575,MedGen:C0872218,Orphanet:298 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_neurogastrointestinal_encephalomyopathy 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG mondo_mondo_0010789_medgen_c0162671_omim_540000_orphanet_550 MELAS syndrome MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550 1 1 1.0000 condition_record_support_limited 20 0 1 MELAS_syndrome 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG mondo_mondo_0100574_medgen_c0014548 Generalized epilepsy MONDO:MONDO:0100574,MedGen:C0014548 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_epilepsy 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 Fanconi anemia MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 1 1 1.0000 condition_record_support_limited 20 0 1 Fanconi_anemia 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG fanci_related_disorder FANCI-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FANCI-related_disorder 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG mondo_mondo_0015802_medgen_c5680502_orphanet_178469 Autosomal dominant non-syndromic intellectual disability MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_non-syndromic_intellectual_disability 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG alpers_like_hepatocerebral_syndrome Alpers-like hepatocerebral syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 Alpers-like_hepatocerebral_syndrome 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG human_phenotype_ontology_hp_0008942_medgen_c3807306 Acute rhabdomyolysis Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_rhabdomyolysis 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLG abnormality_of_corpus_callosum Abnormality of corpus callosum . 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_corpus_callosum 378 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POLE mondo_mondo_0018653_medgen_c5202613_orphanet_447877 Polymerase proofreading-related adenomatous polyposis MONDO:MONDO:0018653,MedGen:C5202613,Orphanet:447877 1 1 1.0000 condition_record_support_limited 20 0 1 Polymerase_proofreading-related_adenomatous_polyposis 487 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture POLE mondo_mondo_0100287_medgen_cn324030 POLE-related polyposis and colorectal cancer syndrome MONDO:MONDO:0100287,MedGen:CN324030 1 1 1.0000 condition_record_support_limited 20 0 1 POLE-related_polyposis_and_colorectal_cancer_syndrome 487 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture POLE mondo_mondo_0002380_mesh_d009208_medgen_c0027070 Myoepithelial tumor MONDO:MONDO:0002380,MeSH:D009208,MedGen:C0027070 1 1 1.0000 condition_record_support_limited 20 0 0 Myoepithelial_tumor 487 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture POLE mondo_mondo_0018604_medgen_c3896578_orphanet_440437 Familial colorectal cancer type X MONDO:MONDO:0018604,MedGen:C3896578,Orphanet:440437 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_colorectal_cancer_type_X 487 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture POLE mondo_mondo_0023113_medgen_cn280943 Familial colorectal cancer MONDO:MONDO:0023113,MedGen:CN280943 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_colorectal_cancer 487 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture POLE mondo_mondo_0009062_medgen_c3806255_omim_219721_orphanet_2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome MONDO:MONDO:0009062,MedGen:C3806255,OMIM:219721,Orphanet:2575 1 1 1.0000 condition_record_support_limited 20 0 1 Cystic_fibrosis-gastritis-megaloblastic_anemia_syndrome 487 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture POLE mondo_mondo_0024331_medgen_c0009402 Colorectal carcinoma MONDO:MONDO:0024331,MedGen:C0009402 1 1 1.0000 condition_record_support_limited 20 0 1 Colorectal_carcinoma 487 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture POLE mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 487 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture POLE mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 1 1 1.0000 condition_record_support_limited 20 0 1 Carcinoma_of_colon 487 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture POLE mondo_mondo_0011994_medgen_c1842371_omim_608224_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 41 MONDO:MONDO:0011994,MedGen:C1842371,OMIM:608224,Orphanet:90635 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_nonsyndromic_hearing_loss_41 487 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture POLD1 pold1_related_disorder POLD1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 POLD1-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene POLD1 mondo_mondo_0014157_medgen_c3715192_omim_615381_orphanet_363649 Mandibular hypoplasia-deafness-progeroid syndrome MONDO:MONDO:0014157,MedGen:C3715192,OMIM:615381,Orphanet:363649 1 1 1.0000 condition_record_support_limited 20 0 1 Mandibular_hypoplasia-deafness-progeroid_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene POLD1 lipodystrophy_childhood_onset Lipodystrophy - childhood onset . 1 1 1.0000 condition_record_support_limited 20 0 0 Lipodystrophy_-_childhood_onset 8 low_record_burden_interpretation_limited low_record_burden_gene POLD1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 8 low_record_burden_interpretation_limited low_record_burden_gene POLD1 mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 Carcinoma of pancreas MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 1 1 1.0000 condition_record_support_limited 20 0 0 Carcinoma_of_pancreas 8 low_record_burden_interpretation_limited low_record_burden_gene POLA1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene POLA1 mondo_mondo_0010523_medgen_c1845050_omim_301220_orphanet_85453 X-linked reticulate pigmentary disorder MONDO:MONDO:0010523,MedGen:C1845050,OMIM:301220,Orphanet:85453 1 1 1.0000 condition_record_support_limited 20 0 1 X-linked_reticulate_pigmentary_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene POLA1 mondo_mondo_0014982_medgen_c4310655_omim_617238 Myopia 25, autosomal dominant MONDO:MONDO:0014982,MedGen:C4310655,OMIM:617238 1 1 1.0000 condition_record_support_limited 20 0 1 Myopia_25,_autosomal_dominant 11 low_record_burden_interpretation_limited low_record_burden_gene POLA1 medgen_c5394216 High myopia, early-onset MedGen:C5394216 1 1 1.0000 condition_record_support_limited 20 0 1 High_myopia,_early-onset 11 low_record_burden_interpretation_limited low_record_burden_gene POGZ intellectual_deficiency intellectual deficiency MedGen:CN228659 1 1 1.0000 condition_record_support_limited 20 0 1 intellectual_deficiency 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ dysmorphy dysmorphy MedGen:CN239859 1 1 1.0000 condition_record_support_limited 20 0 1 dysmorphy 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0000154_human_phenotype_ontology_hp_0000181_human_phenotype_ontology_hp_0002052_medgen_c0024433 Wide mouth Human_Phenotype_Ontology:HP:0000154,Human_Phenotype_Ontology:HP:0000181,Human_Phenotype_Ontology:HP:0002052,MedGen:C0024433 1 1 1.0000 condition_record_support_limited 20 0 1 Wide_mouth 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0001956_human_phenotype_ontology_hp_0008885_medgen_c4551560 Truncal obesity Human_Phenotype_Ontology:HP:0001956,Human_Phenotype_Ontology:HP:0008885,MedGen:C4551560 1 1 1.0000 condition_record_support_limited 20 0 1 Truncal_obesity 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 1.0000 condition_record_support_limited 20 0 1 Strabismus 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0011098_medgen_c0264611 Speech apraxia Human_Phenotype_Ontology:HP:0011098,MedGen:C0264611 1 1 1.0000 condition_record_support_limited 20 0 1 Speech_apraxia 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ smith_magenis_syndrome_like Smith-Magenis Syndrome-like . 1 1 1.0000 condition_record_support_limited 20 0 1 Smith-Magenis_Syndrome-like 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0001164_human_phenotype_ontology_hp_0005695_human_phenotype_ontology_hp_0005717_human_phenotype_ontology_hp_0005909_human_phenotype_ontology_hp_0006047_human_phenotype_ontology_hp_0006183_human_phenotype_ontology_hp_0006186_human_phenotype_ontology_hp_0010049_medgen_c1837084 Short metacarpal Human_Phenotype_Ontology:HP:0001164,Human_Phenotype_Ontology:HP:0005695,Human_Phenotype_Ontology:HP:0005717,Human_Phenotype_Ontology:HP:0005909,Human_Phenotype_Ontology:HP:0006047,Human_Phenotype_Ontology:HP:0006183,Human_Phenotype_Ontology:HP:0006186,Human_Phenotype_Ontology:HP:0010049,MedGen:C1837084 1 1 1.0000 condition_record_support_limited 20 0 1 Short_metacarpal 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0011344_medgen_c1837397 Severe global developmental delay Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_global_developmental_delay 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorineural_hearing_loss_disorder 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 1.0000 condition_record_support_limited 20 0 0 Obesity 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Myopia Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 1 1 1.0000 condition_record_support_limited 20 0 1 Myopia 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0006915_medgen_c1859200 Inability to walk by childhood/adolescence Human_Phenotype_Ontology:HP:0006915,MedGen:C1859200 1 1 1.0000 condition_record_support_limited 20 0 1 Inability_to_walk_by_childhood/adolescence 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0000821_human_phenotype_ontology_hp_0003222_human_phenotype_ontology_hp_0008203_mondo_mondo_0005420_medgen_c0020676 Hypothyroidism Human_Phenotype_Ontology:HP:0000821,Human_Phenotype_Ontology:HP:0003222,Human_Phenotype_Ontology:HP:0008203,MONDO:MONDO:0005420,MedGen:C0020676 1 1 1.0000 condition_record_support_limited 20 0 1 Hypothyroidism 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Hypoplasia of the corpus callosum Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplasia_of_the_corpus_callosum 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Hypertelorism Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertelorism 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0000156_human_phenotype_ontology_hp_0000218_human_phenotype_ontology_hp_0009080_human_phenotype_ontology_hp_0009082_human_phenotype_ontology_hp_0009097_medgen_c0240635 High palate Human_Phenotype_Ontology:HP:0000156,Human_Phenotype_Ontology:HP:0000218,Human_Phenotype_Ontology:HP:0009080,Human_Phenotype_Ontology:HP:0009082,Human_Phenotype_Ontology:HP:0009097,MedGen:C0240635 1 1 1.0000 condition_record_support_limited 20 0 1 High_palate 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0000192_human_phenotype_ontology_hp_0002714_medgen_c1866195 Downturned corners of mouth Human_Phenotype_Ontology:HP:0000192,Human_Phenotype_Ontology:HP:0002714,MedGen:C1866195 1 1 1.0000 condition_record_support_limited 20 0 1 Downturned_corners_of_mouth 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0000633_medgen_c0235857 Decreased lacrimation Human_Phenotype_Ontology:HP:0000633,MedGen:C0235857 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_lacrimation 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0000248_human_phenotype_ontology_hp_0002258_human_phenotype_ontology_hp_0004479_human_phenotype_ontology_hp_0008512_medgen_c0221356_orphanet_35099 Brachycephaly Human_Phenotype_Ontology:HP:0000248,Human_Phenotype_Ontology:HP:0002258,Human_Phenotype_Ontology:HP:0004479,Human_Phenotype_Ontology:HP:0008512,MedGen:C0221356,Orphanet:35099 1 1 1.0000 condition_record_support_limited 20 0 1 Brachycephaly 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0000427_human_phenotype_ontology_hp_0000435_human_phenotype_ontology_hp_0000441_human_phenotype_ontology_hp_0000463_medgen_c1840077 Anteverted nares Human_Phenotype_Ontology:HP:0000427,Human_Phenotype_Ontology:HP:0000435,Human_Phenotype_Ontology:HP:0000441,Human_Phenotype_Ontology:HP:0000463,MedGen:C1840077 1 1 1.0000 condition_record_support_limited 20 0 1 Anteverted_nares 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Absent speech Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 1.0000 condition_record_support_limited 20 0 1 Absent_speech 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POGZ human_phenotype_ontology_hp_0001597_medgen_c0853087 Abnormal nail morphology Human_Phenotype_Ontology:HP:0001597,MedGen:C0853087 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_nail_morphology 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POFUT1 pofut1_related_disorder POFUT1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 POFUT1-related_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene PODXL mondo_mondo_0010820_medgen_c1868675_omim_600116_orphanet_2828 Autosomal recessive juvenile Parkinson disease 2 MONDO:MONDO:0010820,MedGen:C1868675,OMIM:600116,Orphanet:2828 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_juvenile_Parkinson_disease_2 6 low_record_burden_interpretation_limited low_record_burden_gene POC5 mondo_mondo_0008419_medgen_c2700406_omim_181800 Scoliosis, isolated, susceptibility to, 1 MONDO:MONDO:0008419,MedGen:C2700406,OMIM:181800 1 1 1.0000 condition_record_support_limited 20 0 0 Scoliosis,_isolated,_susceptibility_to,_1 1 low_record_burden_interpretation_limited low_record_burden_gene POC1B human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POC1B mondo_mondo_0957430_medgen_c0036346_orphanet_641496 Childhood-onset schizophrenia MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 1.0000 condition_record_support_limited 20 0 0 Childhood-onset_schizophrenia 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POC1A poc1a_related_disorder POC1A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 POC1A-related_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture POC1A mondo_mondo_0009876_medgen_c0342573_omim_262400_orphanet_231662_orphanet_631 Ateleiotic dwarfism MONDO:MONDO:0009876,MedGen:C0342573,OMIM:262400,Orphanet:231662,Orphanet:631 1 1 1.0000 condition_record_support_limited 20 0 1 Ateleiotic_dwarfism 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPT1 monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 0 Monogenic_hearing_loss 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPT1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPO mondo_mondo_0015353_medgen_cn031873_omim_600794_orphanet_139536 Neuronopathy, distal hereditary motor, type 5A MONDO:MONDO:0015353,MedGen:CN031873,OMIM:600794,Orphanet:139536 1 1 1.0000 condition_record_support_limited 20 0 1 Neuronopathy,_distal_hereditary_motor,_type_5A 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPO human_phenotype_ontology_hp_0001434_human_phenotype_ontology_hp_0001510_human_phenotype_ontology_hp_0001512_human_phenotype_ontology_hp_0001514_human_phenotype_ontology_hp_0001517_human_phenotype_ontology_hp_0001532_human_phenotype_ontology_hp_0008847_human_phenotype_ontology_hp_0008870_human_phenotype_ontology_hp_0008886_human_phenotype_ontology_hp_0008893_human_phenotype_ontology_hp_0008926_medgen_c0456070 Growth delay Human_Phenotype_Ontology:HP:0001434,Human_Phenotype_Ontology:HP:0001510,Human_Phenotype_Ontology:HP:0001512,Human_Phenotype_Ontology:HP:0001514,Human_Phenotype_Ontology:HP:0001517,Human_Phenotype_Ontology:HP:0001532,Human_Phenotype_Ontology:HP:0008847,Human_Phenotype_Ontology:HP:0008870,Human_Phenotype_Ontology:HP:0008886,Human_Phenotype_Ontology:HP:0008893,Human_Phenotype_Ontology:HP:0008926,MedGen:C0456070 1 1 1.0000 condition_record_support_limited 20 0 1 Growth_delay 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPO human_phenotype_ontology_hp_0001511_human_phenotype_ontology_hp_0001515_human_phenotype_ontology_hp_0008862_human_phenotype_ontology_hp_0008892_human_phenotype_ontology_hp_0008931_mondo_mondo_0005030_medgen_c0015934 Fetal growth restriction Human_Phenotype_Ontology:HP:0001511,Human_Phenotype_Ontology:HP:0001515,Human_Phenotype_Ontology:HP:0008862,Human_Phenotype_Ontology:HP:0008892,Human_Phenotype_Ontology:HP:0008931,MONDO:MONDO:0005030,MedGen:C0015934 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_growth_restriction 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA8 pnpla8_related_disorder PNPLA8-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PNPLA8-related_disorder 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA8 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_musculature 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA6 human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Rod-cone dystrophy Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 1 1 1.0000 condition_record_support_limited 20 0 0 Rod-cone_dystrophy 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA6 mondo_mondo_0100155_medgen_cn322576 Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:MONDO:0100155,MedGen:CN322576 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy-ataxia-pituitary_hormone_abnormality-hypogonadism_syndrome 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA6 mondo_mondo_0018800_medgen_c0162809_orphanet_478 Hypogonadism with anosmia MONDO:MONDO:0018800,MedGen:C0162809,Orphanet:478 1 1 1.0000 condition_record_support_limited 20 0 0 Hypogonadism_with_anosmia 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA6 human_phenotype_ontology_hp_0002066_human_phenotype_ontology_hp_0002379_medgen_c0751837 Gait ataxia Human_Phenotype_Ontology:HP:0002066,Human_Phenotype_Ontology:HP:0002379,MedGen:C0751837 1 1 1.0000 condition_record_support_limited 20 0 1 Gait_ataxia 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA6 human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Cerebellar atrophy Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_atrophy 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNPLA1 human_phenotype_ontology_hp_0000955_human_phenotype_ontology_hp_0007547_human_phenotype_ontology_hp_0008064_mondo_mondo_0019269_medgen_c0020757_orphanet_79354 Ichthyosis Human_Phenotype_Ontology:HP:0000955,Human_Phenotype_Ontology:HP:0007547,Human_Phenotype_Ontology:HP:0008064,MONDO:MONDO:0019269,MedGen:C0020757,Orphanet:79354 1 1 1.0000 condition_record_support_limited 20 0 1 Ichthyosis 48 compact_adjacent_exon_block_opportunity local_compact_architecture PNPLA1 mondo_mondo_0017265_medgen_c1274215_omim_ps242300_orphanet_281097 Autosomal recessive congenital ichthyosis MONDO:MONDO:0017265,MedGen:C1274215,OMIM:PS242300,Orphanet:281097 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_congenital_ichthyosis 48 compact_adjacent_exon_block_opportunity local_compact_architecture PNPLA1 human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Abnormality of the skin Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_skin 48 compact_adjacent_exon_block_opportunity local_compact_architecture PNLDC1 mondo_mondo_0001913_mesh_d009845_medgen_c0028960 Oligospermia MONDO:MONDO:0001913,MeSH:D009845,MedGen:C0028960 1 1 1.0000 condition_record_support_limited 20 0 1 Oligospermia 9 low_record_burden_interpretation_limited low_record_burden_gene PNLDC1 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 1.0000 condition_record_support_limited 20 0 1 Non-obstructive_azoospermia 9 low_record_burden_interpretation_limited low_record_burden_gene PNLDC1 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility 9 low_record_burden_interpretation_limited low_record_burden_gene PNKP human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNKP human_phenotype_ontology_hp_0011451_medgen_c2677180 Primary microcephaly Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_microcephaly 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNKP human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNKP human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNKP human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Cerebellar atrophy Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_atrophy 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNKP mondo_mondo_0008842_medgen_c1859598_omim_208920_orphanet_1168 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920,Orphanet:1168 1 1 1.0000 condition_record_support_limited 20 0 1 Ataxia,_early-onset,_with_oculomotor_apraxia_and_hypoalbuminemia 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PNKD human_phenotype_ontology_hp_0002268_human_phenotype_ontology_hp_0002412_mondo_mondo_0016058_medgen_c0393588_orphanet_200037 Paroxysmal dystonia Human_Phenotype_Ontology:HP:0002268,Human_Phenotype_Ontology:HP:0002412,MONDO:MONDO:0016058,MedGen:C0393588,Orphanet:200037 1 1 1.0000 condition_record_support_limited 20 0 1 Paroxysmal_dystonia 4 low_record_burden_interpretation_limited low_record_burden_gene PNKD human_phenotype_ontology_hp_0007166_mondo_mondo_0015427_medgen_c0752210_orphanet_1431 Paroxysmal dyskinesia Human_Phenotype_Ontology:HP:0007166,MONDO:MONDO:0015427,MedGen:C0752210,Orphanet:1431 1 1 1.0000 condition_record_support_limited 20 0 1 Paroxysmal_dyskinesia 4 low_record_burden_interpretation_limited low_record_burden_gene PNKD medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 4 low_record_burden_interpretation_limited low_record_burden_gene PNKD human_phenotype_ontology_hp_0012194_medgen_c1863061 Episodic hemiplegia Human_Phenotype_Ontology:HP:0012194,MedGen:C1863061 1 1 1.0000 condition_record_support_limited 20 0 1 Episodic_hemiplegia 4 low_record_burden_interpretation_limited low_record_burden_gene PMVK condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene PMVK pmvk_related_disorder PMVK-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PMVK-related_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene PMS2 human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Rhabdomyosarcoma Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 1 1 1.0000 condition_record_support_limited 20 0 1 Rhabdomyosarcoma 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMS2 mondo_mondo_0021400_medgen_c0009376 Polyp of colon MONDO:MONDO:0021400,MedGen:C0009376 1 1 1.0000 condition_record_support_limited 20 0 1 Polyp_of_colon 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMS2 human_phenotype_ontology_hp_0011763_mondo_mondo_0017582_medgen_c0346300_orphanet_300385 Pituitary carcinoma Human_Phenotype_Ontology:HP:0011763,MONDO:MONDO:0017582,MedGen:C0346300,Orphanet:300385 1 1 1.0000 condition_record_support_limited 20 0 1 Pituitary_carcinoma 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMS2 pms2_related_cancer_disorders PMS2-related cancer disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 PMS2-related_cancer_disorders 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMS2 mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 Malignant lymphoma, large B-cell, diffuse MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 1 1 1.0000 condition_record_support_limited 20 0 0 Malignant_lymphoma,_large_B-cell,_diffuse 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMS2 human_phenotype_ontology_hp_0002665_mondo_mondo_0005062_mesh_d008223_medgen_c0024299_orphanet_223735 Lymphoma Human_Phenotype_Ontology:HP:0002665,MONDO:MONDO:0005062,MeSH:D008223,MedGen:C0024299,Orphanet:223735 1 1 1.0000 condition_record_support_limited 20 0 1 Lymphoma 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMS2 mondo_mondo_0013412_medgen_c1861065_omim_613765 Hypertrophic cardiomyopathy 9 MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrophic_cardiomyopathy_9 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMS2 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_breast_ovarian_cancer_syndrome 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMS2 human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Hepatocellular carcinoma Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 1 1 1.0000 condition_record_support_limited 20 0 0 Hepatocellular_carcinoma 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMS2 mondo_mondo_0011400_medgen_c1858763_omim_604145_orphanet_154 Dilated cardiomyopathy 1G MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154 1 1 1.0000 condition_record_support_limited 20 0 1 Dilated_cardiomyopathy_1G 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMS2 colorectal_cancer_non_polyposis Colorectal cancer, non-polyposis . 1 1 1.0000 condition_record_support_limited 20 0 1 Colorectal_cancer,_non-polyposis 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMS2 human_phenotype_ontology_hp_0003003_human_phenotype_ontology_hp_0006718_mondo_mondo_0021063_medgen_c0007102 Colon cancer Human_Phenotype_Ontology:HP:0003003,Human_Phenotype_Ontology:HP:0006718,MONDO:MONDO:0021063,MedGen:C0007102 1 1 1.0000 condition_record_support_limited 20 0 1 Colon_cancer 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMS2 human_phenotype_ontology_hp_0030080_mondo_mondo_0007243_medgen_c0006413_omim_113970_orphanet_543 Burkitt lymphoma Human_Phenotype_Ontology:HP:0030080,MONDO:MONDO:0007243,MedGen:C0006413,OMIM:113970,Orphanet:543 1 1 1.0000 condition_record_support_limited 20 0 1 Burkitt_lymphoma 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMS2 mondo_mondo_0012933_medgen_c2675520_omim_612555_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 2 MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 1 Breast-ovarian_cancer,_familial,_susceptibility_to,_2 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMS2 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 1 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 1 Breast-ovarian_cancer,_familial,_susceptibility_to,_1 921 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PMS1 condition_not_provided condition not provided MedGen:CN169374 1 1 1.0000 condition_record_support_limited 20 1 1 not_specified 4 low_record_burden_interpretation_limited low_record_burden_gene PMS1 mondo_mondo_0013699_medgen_c1838333_omim_614337_orphanet_144 Lynch syndrome 4 MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144 1 1 1.0000 condition_record_support_limited 20 0 0 Lynch_syndrome_4 4 low_record_burden_interpretation_limited low_record_burden_gene PMS1 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 4 low_record_burden_interpretation_limited low_record_burden_gene PMPCB condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene PMPCB pmpcb_related_mitochondrial_disorder PMPCB-related mitochondrial disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PMPCB-related_mitochondrial_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene PMPCB pmpcb_related_ataxia PMPCB-related ataxia . 1 1 1.0000 condition_record_support_limited 20 0 0 PMPCB-related_ataxia 9 low_record_burden_interpretation_limited low_record_burden_gene PMPCB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 9 low_record_burden_interpretation_limited low_record_burden_gene PMP22 human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Peripheral neuropathy Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 1.0000 condition_record_support_limited 20 0 0 Peripheral_neuropathy 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMP22 medgen_c4016717 Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths MedGen:C4016717 1 1 1.0000 condition_record_support_limited 20 0 0 Charcot-Marie-Tooth_disease,_type_1a,_with_focally_folded_myelin_sheaths 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMP22 mondo_mondo_0011894_medgen_c1843225_omim_607684_orphanet_99939 Charcot-Marie-Tooth disease type 2E MONDO:MONDO:0011894,MedGen:C1843225,OMIM:607684,Orphanet:99939 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease_type_2E 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMP22 autosomal_recessive_dejerine_sottas_syndrome Autosomal recessive Dejerine-Sottas syndrome MedGen:CN069172 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_Dejerine-Sottas_syndrome 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMP2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 6 low_record_burden_interpretation_limited low_record_burden_gene PMM2 mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 1 Premature_ovarian_failure 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMM2 human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 1.0000 condition_record_support_limited 20 0 1 Focal_segmental_glomerulosclerosis 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMM2 mondo_mondo_0005500_medgen_c4700504_omim_ps212065 Congenital disorder of glycosylation type I MONDO:MONDO:0005500,MedGen:C4700504,OMIM:PS212065 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_disorder_of_glycosylation_type_I 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMM2 mondo_mondo_0015286_medgen_c0282577_orphanet_137 Congenital disorder of glycosylation MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_disorder_of_glycosylation 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PMM1 mondo_mondo_0014994_medgen_c4310644_omim_617260 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies MONDO:MONDO:0014994,MedGen:C4310644,OMIM:617260 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay,_absent_or_hypoplastic_corpus_callosum,_and_dysmorphic_facies 1 low_record_burden_interpretation_limited low_record_burden_gene PMFBP1 mondo_mondo_0001913_mesh_d009845_medgen_c0028960 Oligospermia MONDO:MONDO:0001913,MeSH:D009845,MedGen:C0028960 1 1 1.0000 condition_record_support_limited 20 0 1 Oligospermia 10 low_record_burden_interpretation_limited low_record_burden_gene PMFBP1 human_phenotype_ontology_hp_0012864_medgen_c0403824 Abnormal sperm morphology Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_sperm_morphology 10 low_record_burden_interpretation_limited low_record_burden_gene PLXNA2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene PLXNA2 atypical_cerebral_palsy atypical cerebral palsy . 1 1 1.0000 condition_record_support_limited 20 0 0 atypical_cerebral_palsy 2 low_record_burden_interpretation_limited low_record_burden_gene PLXNA1 plxna1_related_disorder PLXNA1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PLXNA1-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene PLXNA1 neurodevelopmental_disorder_with_variable_cerebral_and_eye_anomalies Neurodevelopmental disorder with variable cerebral and eye anomalies . 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_variable_cerebral_and_eye_anomalies 17 low_record_burden_interpretation_limited low_record_burden_gene PLS3 mondo_mondo_0018315_medgen_c5190610_orphanet_391330 X-linked osteoporosis with fractures MONDO:MONDO:0018315,MedGen:C5190610,Orphanet:391330 1 1 1.0000 condition_record_support_limited 20 0 0 X-linked_osteoporosis_with_fractures 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLS3 mondo_mondo_0008159_medgen_c0029458 Postmenopausal osteoporosis MONDO:MONDO:0008159,MedGen:C0029458 1 1 1.0000 condition_record_support_limited 20 0 0 Postmenopausal_osteoporosis 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLS3 human_phenotype_ontology_hp_0000776_human_phenotype_ontology_hp_0006604_mondo_mondo_0005711_mesh_d065630_medgen_c0235833_omim_ps142340_orphanet_2140 Congenital diaphragmatic hernia Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_diaphragmatic_hernia 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLS1 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 3 low_record_burden_interpretation_limited low_record_burden_gene PLS1 human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Bilateral sensorineural hearing impairment Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_sensorineural_hearing_impairment 3 low_record_burden_interpretation_limited low_record_burden_gene PLS1 autosomal_dominant_nonsyndromic_hearing_impairment Autosomal dominant nonsyndromic hearing impairment . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_nonsyndromic_hearing_impairment 3 low_record_burden_interpretation_limited low_record_burden_gene PLPBP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLP1 human_phenotype_ontology_hp_0001257_medgen_c0026838 Spasticity Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 1 1 1.0000 condition_record_support_limited 20 0 0 Spasticity 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLP1 medgen_c4016484 Pelizaeus-Merzbacher disease, mild MedGen:C4016484 1 1 1.0000 condition_record_support_limited 20 0 1 Pelizaeus-Merzbacher_disease,_mild 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLP1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLP1 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLP1 medgen_c2732267 Auditory neuropathy spectrum disorder MedGen:C2732267 1 1 1.0000 condition_record_support_limited 20 0 0 Auditory_neuropathy_spectrum_disorder 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD3 plod3_related_disorder PLOD3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PLOD3-related_disorder 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD3 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD2 human_phenotype_ontology_hp_0003031_human_phenotype_ontology_hp_0003983_medgen_c1865847 Ulnar bowing Human_Phenotype_Ontology:HP:0003031,Human_Phenotype_Ontology:HP:0003983,MedGen:C1865847 1 1 1.0000 condition_record_support_limited 20 0 1 Ulnar_bowing 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD2 human_phenotype_ontology_hp_0003097_human_phenotype_ontology_hp_0009749_mondo_mondo_0016032_medgen_c0345375_orphanet_1987 Short femur Human_Phenotype_Ontology:HP:0003097,Human_Phenotype_Ontology:HP:0009749,MONDO:MONDO:0016032,MedGen:C0345375,Orphanet:1987 1 1 1.0000 condition_record_support_limited 20 0 1 Short_femur 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD2 human_phenotype_ontology_hp_0002986_human_phenotype_ontology_hp_0004996_medgen_c1859399 Radial bowing Human_Phenotype_Ontology:HP:0002986,Human_Phenotype_Ontology:HP:0004996,MedGen:C1859399 1 1 1.0000 condition_record_support_limited 20 0 1 Radial_bowing 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD2 plod2_related_disorder PLOD2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 PLOD2-related_disorder 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD2 human_phenotype_ontology_hp_0002980_human_phenotype_ontology_hp_0004998_medgen_c1859461 Femoral bowing Human_Phenotype_Ontology:HP:0002980,Human_Phenotype_Ontology:HP:0004998,MedGen:C1859461 1 1 1.0000 condition_record_support_limited 20 0 1 Femoral_bowing 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD2 human_phenotype_ontology_hp_0001762_mondo_mondo_0007342_medgen_c0009081_omim_119800_orphanet_199315 Clubfoot Human_Phenotype_Ontology:HP:0001762,MONDO:MONDO:0007342,MedGen:C0009081,OMIM:119800,Orphanet:199315 1 1 1.0000 condition_record_support_limited 20 0 1 Clubfoot 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD2 human_phenotype_ontology_hp_0000185_mondo_mondo_0007338_medgen_c0432098_omim_119570_orphanet_99772 Cleft soft palate Human_Phenotype_Ontology:HP:0000185,MONDO:MONDO:0007338,MedGen:C0432098,OMIM:119570,Orphanet:99772 1 1 1.0000 condition_record_support_limited 20 0 1 Cleft_soft_palate 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD2 human_phenotype_ontology_hp_0012385_medgen_c0685409 Camptodactyly Human_Phenotype_Ontology:HP:0012385,MedGen:C0685409 1 1 1.0000 condition_record_support_limited 20 0 1 Camptodactyly 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD2 human_phenotype_ontology_hp_0002976_human_phenotype_ontology_hp_0005087_human_phenotype_ontology_hp_0005908_human_phenotype_ontology_hp_0006404_human_phenotype_ontology_hp_0006451_human_phenotype_ontology_hp_0006452_human_phenotype_ontology_hp_0006487_medgen_c1855340 Bowing of the long bones Human_Phenotype_Ontology:HP:0002976,Human_Phenotype_Ontology:HP:0005087,Human_Phenotype_Ontology:HP:0005908,Human_Phenotype_Ontology:HP:0006404,Human_Phenotype_Ontology:HP:0006451,Human_Phenotype_Ontology:HP:0006452,Human_Phenotype_Ontology:HP:0006487,MedGen:C1855340 1 1 1.0000 condition_record_support_limited 20 0 1 Bowing_of_the_long_bones 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD2 human_phenotype_ontology_hp_0005613_human_phenotype_ontology_hp_0006396_human_phenotype_ontology_hp_0006425_medgen_c1851310 Aplasia/hypoplasia of the femur Human_Phenotype_Ontology:HP:0005613,Human_Phenotype_Ontology:HP:0006396,Human_Phenotype_Ontology:HP:0006425,MedGen:C1851310 1 1 1.0000 condition_record_support_limited 20 0 1 Aplasia/hypoplasia_of_the_femur 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD1 human_phenotype_ontology_hp_0001537_medgen_c0019322 Umbilical hernia Human_Phenotype_Ontology:HP:0001537,MedGen:C0019322 1 1 1.0000 condition_record_support_limited 20 0 1 Umbilical_hernia 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD1 human_phenotype_ontology_hp_0002944_human_phenotype_ontology_hp_0004567_human_phenotype_ontology_hp_0004585_medgen_c0749379 Thoracolumbar scoliosis Human_Phenotype_Ontology:HP:0002944,Human_Phenotype_Ontology:HP:0004567,Human_Phenotype_Ontology:HP:0004585,MedGen:C0749379 1 1 1.0000 condition_record_support_limited 20 0 1 Thoracolumbar_scoliosis 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD1 human_phenotype_ontology_hp_0000331_medgen_c3697248 Short chin Human_Phenotype_Ontology:HP:0000331,MedGen:C3697248 1 1 1.0000 condition_record_support_limited 20 0 1 Short_chin 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD1 human_phenotype_ontology_hp_0011344_medgen_c1837397 Severe global developmental delay Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_global_developmental_delay 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD1 human_phenotype_ontology_hp_0002132_medgen_c4082172 Porencephalic cyst Human_Phenotype_Ontology:HP:0002132,MedGen:C4082172 1 1 1.0000 condition_record_support_limited 20 0 1 Porencephalic_cyst 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD1 human_phenotype_ontology_hp_0001319_human_phenotype_ontology_hp_0008976_medgen_c2267233 Neonatal hypotonia Human_Phenotype_Ontology:HP:0001319,Human_Phenotype_Ontology:HP:0008976,MedGen:C2267233 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_hypotonia 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD1 human_phenotype_ontology_hp_0000774_human_phenotype_ontology_hp_0000909_human_phenotype_ontology_hp_0005252_human_phenotype_ontology_hp_0006588_medgen_c0426790 Narrow chest Human_Phenotype_Ontology:HP:0000774,Human_Phenotype_Ontology:HP:0000909,Human_Phenotype_Ontology:HP:0005252,Human_Phenotype_Ontology:HP:0006588,MedGen:C0426790 1 1 1.0000 condition_record_support_limited 20 0 1 Narrow_chest 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD1 human_phenotype_ontology_hp_0004488_medgen_c1836599 Macrocephaly at birth Human_Phenotype_Ontology:HP:0004488,MedGen:C1836599 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly_at_birth 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD1 human_phenotype_ontology_hp_0001378_human_phenotype_ontology_hp_0001382_human_phenotype_ontology_hp_0005034_medgen_c1844820 Joint hypermobility Human_Phenotype_Ontology:HP:0001378,Human_Phenotype_Ontology:HP:0001382,Human_Phenotype_Ontology:HP:0005034,MedGen:C1844820 1 1 1.0000 condition_record_support_limited 20 0 1 Joint_hypermobility 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD1 medgen_c0431659 Hypoplasia of scrotum MedGen:C0431659 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplasia_of_scrotum 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD1 human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Hydrocephalus Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 1.0000 condition_record_support_limited 20 0 1 Hydrocephalus 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD1 human_phenotype_ontology_hp_0000156_human_phenotype_ontology_hp_0000218_human_phenotype_ontology_hp_0009080_human_phenotype_ontology_hp_0009082_human_phenotype_ontology_hp_0009097_medgen_c0240635 High palate Human_Phenotype_Ontology:HP:0000156,Human_Phenotype_Ontology:HP:0000218,Human_Phenotype_Ontology:HP:0009080,Human_Phenotype_Ontology:HP:0009082,Human_Phenotype_Ontology:HP:0009097,MedGen:C0240635 1 1 1.0000 condition_record_support_limited 20 0 1 High_palate 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD1 human_phenotype_ontology_hp_0008935_medgen_c1845123 Generalized neonatal hypotonia Human_Phenotype_Ontology:HP:0008935,MedGen:C1845123 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_neonatal_hypotonia 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD1 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD1 human_phenotype_ontology_hp_0011968_medgen_c0232466 Feeding difficulties Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466 1 1 1.0000 condition_record_support_limited 20 0 1 Feeding_difficulties 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD1 human_phenotype_ontology_hp_0000258_human_phenotype_ontology_hp_0000268_human_phenotype_ontology_hp_0005440_medgen_c0221358 Dolichocephaly Human_Phenotype_Ontology:HP:0000258,Human_Phenotype_Ontology:HP:0000268,Human_Phenotype_Ontology:HP:0005440,MedGen:C0221358 1 1 1.0000 condition_record_support_limited 20 0 1 Dolichocephaly 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD1 human_phenotype_ontology_hp_0000425_human_phenotype_ontology_hp_0000428_human_phenotype_ontology_hp_0000439_human_phenotype_ontology_hp_0000459_human_phenotype_ontology_hp_0004413_human_phenotype_ontology_hp_0004505_human_phenotype_ontology_hp_0004506_human_phenotype_ontology_hp_0004666_human_phenotype_ontology_hp_0005119_human_phenotype_ontology_hp_0005280_human_phenotype_ontology_hp_0005284_medgen_c1836542 Depressed nasal bridge Human_Phenotype_Ontology:HP:0000425,Human_Phenotype_Ontology:HP:0000428,Human_Phenotype_Ontology:HP:0000439,Human_Phenotype_Ontology:HP:0000459,Human_Phenotype_Ontology:HP:0004413,Human_Phenotype_Ontology:HP:0004505,Human_Phenotype_Ontology:HP:0004506,Human_Phenotype_Ontology:HP:0004666,Human_Phenotype_Ontology:HP:0005119,Human_Phenotype_Ontology:HP:0005280,Human_Phenotype_Ontology:HP:0005284,MedGen:C1836542 1 1 1.0000 condition_record_support_limited 20 0 1 Depressed_nasal_bridge 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD1 human_phenotype_ontology_hp_0001539_mondo_mondo_0019015_medgen_c0795690_orphanet_660 Congenital omphalocele Human_Phenotype_Ontology:HP:0001539,MONDO:MONDO:0019015,MedGen:C0795690,Orphanet:660 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_omphalocele 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLOD1 human_phenotype_ontology_hp_0008686_human_phenotype_ontology_hp_0008689_medgen_c0431663 Bilateral cryptorchidism Human_Phenotype_Ontology:HP:0008686,Human_Phenotype_Ontology:HP:0008689,MedGen:C0431663 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_cryptorchidism 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLN efo_the_experimental_factor_ontology_efo_0004278_human_phenotype_ontology_hp_0001645_human_phenotype_ontology_hp_0005161_mesh_d016757_medgen_c0085298 Sudden cardiac death EFO:_The_Experimental_Factor_Ontology:EFO_0004278,Human_Phenotype_Ontology:HP:0001645,Human_Phenotype_Ontology:HP:0005161,MeSH:D016757,MedGen:C0085298 1 1 1.0000 condition_record_support_limited 20 0 1 Sudden_cardiac_death 11 low_record_burden_interpretation_limited low_record_burden_gene PLN efo_the_experimental_factor_ontology_efo_0005303_mesh_d013398_medgen_c0038644_omim_272120 SUDDEN INFANT DEATH SYNDROME EFO:_The_Experimental_Factor_Ontology:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120 1 1 1.0000 condition_record_support_limited 20 0 1 SUDDEN_INFANT_DEATH_SYNDROME 11 low_record_burden_interpretation_limited low_record_burden_gene PLN pln_related_disorder PLN-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PLN-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene PLN pln_related_cardiomyopathy PLN-related cardiomyopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 PLN-related_cardiomyopathy 11 low_record_burden_interpretation_limited low_record_burden_gene PLN mondo_mondo_0000591_medgen_cn305117 Intrinsic cardiomyopathy MONDO:MONDO:0000591,MedGen:CN305117 1 1 1.0000 condition_record_support_limited 20 0 1 Intrinsic_cardiomyopathy 11 low_record_burden_interpretation_limited low_record_burden_gene PLN human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrophic_cardiomyopathy 11 low_record_burden_interpretation_limited low_record_burden_gene PLN human_phenotype_ontology_hp_0001695_mondo_mondo_0000745_medgen_c0018790 Cardiac arrest Human_Phenotype_Ontology:HP:0001695,MONDO:MONDO:0000745,MedGen:C0018790 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiac_arrest 11 low_record_burden_interpretation_limited low_record_burden_gene PLN mondo_mondo_0012180_medgen_c1836906_omim_609040 Arrhythmogenic right ventricular dysplasia 9 MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040 1 1 1.0000 condition_record_support_limited 20 0 1 Arrhythmogenic_right_ventricular_dysplasia_9 11 low_record_burden_interpretation_limited low_record_burden_gene PLK4 plk4_related_microcephaly_and_growth_failure_with_or_without_ocular_features PLK4-related microcephaly and growth failure with or without ocular features . 1 1 1.0000 condition_record_support_limited 20 0 0 PLK4-related_microcephaly_and_growth_failure_with_or_without_ocular_features 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLK2 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_breast_ovarian_cancer_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene PLIN4 mondo_mondo_0011155_medgen_c1866139_omim_601846_orphanet_696063 Vacuolar Neuromyopathy MONDO:MONDO:0011155,MedGen:C1866139,OMIM:601846,Orphanet:696063 1 1 1.0000 condition_record_support_limited 20 0 0 Vacuolar_Neuromyopathy 1 low_record_burden_interpretation_limited low_record_burden_gene PLG mondo_mondo_0008162_medgen_c1833692_omim_166760 Otitis media, susceptibility to MONDO:MONDO:0008162,MedGen:C1833692,OMIM:166760 1 1 1.0000 condition_record_support_limited 20 0 1 Otitis_media,_susceptibility_to 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLG mondo_mondo_0019623_medgen_c0019243_omim_ps106100_orphanet_91378 Hereditary angioneurotic edema MONDO:MONDO:0019623,MedGen:C0019243,OMIM:PS106100,Orphanet:91378 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_angioneurotic_edema 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLG mondo_mondo_0100567_medgen_c1960459_orphanet_528647 Hereditary angioedema with normal C1Inh MONDO:MONDO:0100567,MedGen:C1960459,Orphanet:528647 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_angioedema_with_normal_C1Inh 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLG human_phenotype_ontology_hp_0002625_mesh_d020246_medgen_c0149871 Deep venous thrombosis Human_Phenotype_Ontology:HP:0002625,MeSH:D020246,MedGen:C0149871 1 1 1.0000 condition_record_support_limited 20 0 1 Deep_venous_thrombosis 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLEKHM1 mondo_mondo_0012679_medgen_c1969093_omim_611497_orphanet_210110 Autosomal recessive osteopetrosis 6 MONDO:MONDO:0012679,MedGen:C1969093,OMIM:611497,Orphanet:210110 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_osteopetrosis_6 4 low_record_burden_interpretation_limited low_record_burden_gene PLEKHG5 mondo_mondo_0008452_medgen_c1866783_omim_182970 Spinal muscular atrophy, facioscapulohumeral type MONDO:MONDO:0008452,MedGen:C1866783,OMIM:182970 1 1 1.0000 condition_record_support_limited 20 0 1 Spinal_muscular_atrophy,_facioscapulohumeral_type 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLEKHG5 plekhg5_related_disorder PLEKHG5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PLEKHG5-related_disorder 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLEKHG5 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLEKHG5 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 1.0000 condition_record_support_limited 20 0 0 Charcot-Marie-Tooth_disease 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLEKHG5 autosomal_recessive_plekhg5_related_disorders Autosomal recessive PLEKHG5-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_PLEKHG5-related_disorders 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLEKHG3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene PLEKHG2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene PLEKHG2 mondo_mondo_0020692_medgen_cn032975_omim_277300_orphanet_2311 Spondylocostal dysostosis 1, autosomal recessive MONDO:MONDO:0020692,MedGen:CN032975,OMIM:277300,Orphanet:2311 1 1 1.0000 condition_record_support_limited 20 0 1 Spondylocostal_dysostosis_1,_autosomal_recessive 2 low_record_burden_interpretation_limited low_record_burden_gene PLEKHA7 plekha7_related_disorder PLEKHA7-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 PLEKHA7-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene PLEKHA5 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 2 low_record_burden_interpretation_limited low_record_burden_gene PLEKHA5 medgen_c0810364_orphanet_1991 Cleft lip with or without cleft palate MedGen:C0810364,Orphanet:1991 1 1 1.0000 condition_record_support_limited 20 0 0 Cleft_lip_with_or_without_cleft_palate 2 low_record_burden_interpretation_limited low_record_burden_gene PLEKHA3 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 1 low_record_burden_interpretation_limited low_record_burden_gene PLEC simplex_epidermolysis_bullosa_ogna_type Simplex epidermolysis bullosa Ogna type . 1 1 1.0000 condition_record_support_limited 20 0 1 Simplex_epidermolysis_bullosa_Ogna_type 154 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PLEC plec_related_disorder PLEC-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 PLEC-related_disorder 154 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PLEC mondo_mondo_0016198_medgen_c5680835_orphanet_209196 Neuromuscular disease caused by qualitative or quantitative defects of plectin MONDO:MONDO:0016198,MedGen:C5680835,Orphanet:209196 1 1 1.0000 condition_record_support_limited 20 0 0 Neuromuscular_disease_caused_by_qualitative_or_quantitative_defects_of_plectin 154 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PLEC human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 1.0000 condition_record_support_limited 20 0 1 Myopathy 154 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PLEC mondo_mondo_0009183_medgen_c5676875_omim_226730_orphanet_79403 Junctional epidermolysis bullosa with pyloric atresia MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403 1 1 1.0000 condition_record_support_limited 20 0 0 Junctional_epidermolysis_bullosa_with_pyloric_atresia 154 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PLEC mondo_mondo_0007550_medgen_c0079295_omim_131760_orphanet_79396 Epidermolysis bullosa simplex 1A, generalized severe MONDO:MONDO:0007550,MedGen:C0079295,OMIM:131760,Orphanet:79396 1 1 1.0000 condition_record_support_limited 20 0 0 Epidermolysis_bullosa_simplex_1A,_generalized_severe 154 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PLEC human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Abnormality of the skin Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_skin 154 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PLD6 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility 1 low_record_burden_interpretation_limited low_record_burden_gene PLD3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene PLD3 human_phenotype_ontology_hp_0007133_human_phenotype_ontology_hp_0007329_medgen_c1859178 Progressive peripheral neuropathy Human_Phenotype_Ontology:HP:0007133,Human_Phenotype_Ontology:HP:0007329,MedGen:C1859178 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_peripheral_neuropathy 3 low_record_burden_interpretation_limited low_record_burden_gene PLD3 human_phenotype_ontology_hp_0002142_human_phenotype_ontology_hp_0007240_medgen_c1843885 Progressive gait ataxia Human_Phenotype_Ontology:HP:0002142,Human_Phenotype_Ontology:HP:0007240,MedGen:C1843885 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_gait_ataxia 3 low_record_burden_interpretation_limited low_record_burden_gene PLD3 mondo_mondo_0013959_medgen_c3540453_omim_614895_orphanet_99952 Charcot-Marie-Tooth disease type 4F MONDO:MONDO:0013959,MedGen:C3540453,OMIM:614895,Orphanet:99952 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease_type_4F 3 low_record_burden_interpretation_limited low_record_burden_gene PLD3 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease 3 low_record_burden_interpretation_limited low_record_burden_gene PLCZ1 plcz1_related_disorder PLCZ1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PLCZ1-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene PLCG1 mondo_mondo_0957790_medgen_c5848750_omim_620514 Immune dysregulation, autoimmunity, and autoinflammation MONDO:MONDO:0957790,MedGen:C5848750,OMIM:620514 1 1 1.0000 condition_record_support_limited 20 0 0 Immune_dysregulation,_autoimmunity,_and_autoinflammation 1 low_record_burden_interpretation_limited low_record_burden_gene PLCE1 human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 1.0000 condition_record_support_limited 20 0 1 Focal_segmental_glomerulosclerosis 63 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PLCE1 mondo_mondo_0009732_medgen_c0403399_omim_256300_orphanet_839 Finnish congenital nephrotic syndrome MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839 1 1 1.0000 condition_record_support_limited 20 0 0 Finnish_congenital_nephrotic_syndrome 63 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PLCB4 human_phenotype_ontology_hp_0007716_mondo_mondo_0006486_medgen_c0220633_omim_155720_orphanet_39044 Uveal melanoma Human_Phenotype_Ontology:HP:0007716,MONDO:MONDO:0006486,MedGen:C0220633,OMIM:155720,Orphanet:39044 1 1 1.0000 condition_record_support_limited 20 0 1 Uveal_melanoma 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLCB4 human_phenotype_ontology_hp_0025534_medgen_c0025210 Ocular melanocytosis Human_Phenotype_Ontology:HP:0025534,MedGen:C0025210 1 1 1.0000 condition_record_support_limited 20 0 1 Ocular_melanocytosis 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLCB4 mondo_mondo_0005439_medgen_c0020445_omim_ps143890 Familial hypercholesterolemia MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_hypercholesterolemia 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLCB4 mondo_mondo_0000107_medgen_c1865295_omim_ps602483_orphanet_137888 Auriculocondylar syndrome MONDO:MONDO:0000107,MedGen:C1865295,OMIM:PS602483,Orphanet:137888 1 1 1.0000 condition_record_support_limited 20 0 1 Auriculocondylar_syndrome 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLCB4 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLCB3 mondo_mondo_0030074_medgen_c5394555_omim_618961_orphanet_589435 Spondylometaphyseal dysplasia with corneal dystrophy MONDO:MONDO:0030074,MedGen:C5394555,OMIM:618961,Orphanet:589435 1 1 1.0000 condition_record_support_limited 20 0 0 Spondylometaphyseal_dysplasia_with_corneal_dystrophy 1 low_record_burden_interpretation_limited low_record_burden_gene PLCB1 mondo_mondo_0007295_medgen_c0376532_orphanet_1945 Self-limited epilepsy with centrotemporal spikes MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 1 1 1.0000 condition_record_support_limited 20 0 0 Self-limited_epilepsy_with_centrotemporal_spikes 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLCB1 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLAG1 mondo_mondo_0008394_medgen_c0175693_omim_ps180860_orphanet_813 Russell-Silver syndrome MONDO:MONDO:0008394,MedGen:C0175693,OMIM:PS180860,Orphanet:813 1 1 1.0000 condition_record_support_limited 20 0 0 Russell-Silver_syndrome 11 low_record_burden_interpretation_limited low_record_burden_gene PLAG1 plag1_related_disorder PLAG1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 PLAG1-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene PLAG1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 11 low_record_burden_interpretation_limited low_record_burden_gene PLAG1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene PLAA condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene PLAA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 13 low_record_burden_interpretation_limited low_record_burden_gene PLA2G6 pla2g6_associated_neurodegeneration_plan PLA2G6-associated neurodegeneration (PLAN) . 1 1 1.0000 condition_record_support_limited 20 0 0 PLA2G6-associated_neurodegeneration_(PLAN) 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLA2G6 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLA2G6 medgen_c2750220 Karak syndrome MedGen:C2750220 1 1 1.0000 condition_record_support_limited 20 0 1 Karak_syndrome 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLA2G6 mondo_mondo_0010866_medgen_c1838258_omim_600329_orphanet_85179 Infantile osteopetrosis with neuroaxonal dysplasia MONDO:MONDO:0010866,MedGen:C1838258,OMIM:600329,Orphanet:85179 1 1 1.0000 condition_record_support_limited 20 0 1 Infantile_osteopetrosis_with_neuroaxonal_dysplasia 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLA2G6 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLA2G6 human_phenotype_ontology_hp_0002376_human_phenotype_ontology_hp_0002471_human_phenotype_ontology_hp_0002489_human_phenotype_ontology_hp_0006797_human_phenotype_ontology_hp_0006828_human_phenotype_ontology_hp_0006854_human_phenotype_ontology_hp_0007037_human_phenotype_ontology_hp_0007242_human_phenotype_ontology_hp_0007247_medgen_c1836830 Developmental regression Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_regression 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLA2G6 mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cerebellar_hypoplasia 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLA2G6 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLA2G6 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_morphology 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PLA2G5 mondo_mondo_0011579_medgen_c1854065_omim_605670_orphanet_67042 Late-onset retinal degeneration MONDO:MONDO:0011579,MedGen:C1854065,OMIM:605670,Orphanet:67042 1 1 1.0000 condition_record_support_limited 20 0 0 Late-onset_retinal_degeneration 1 low_record_burden_interpretation_limited low_record_burden_gene PLA2G2A mondo_mondo_0023113_medgen_cn280943 Familial colorectal cancer MONDO:MONDO:0023113,MedGen:CN280943 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_colorectal_cancer 1 low_record_burden_interpretation_limited low_record_burden_gene PLA1A mondo_mondo_0005439_medgen_c0020445_omim_ps143890 Familial hypercholesterolemia MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_hypercholesterolemia 1 low_record_burden_interpretation_limited low_record_burden_gene PKP2 mondo_mondo_0100316_medgen_c4551647_omim_192500_orphanet_101016_orphanet_768 Long QT syndrome 1 MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768 1 1 1.0000 condition_record_support_limited 20 0 1 Long_QT_syndrome_1 344 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKP2 human_phenotype_ontology_hp_0011664_medgen_c4021133 Left ventricular noncompaction cardiomyopathy Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 1 1 1.0000 condition_record_support_limited 20 0 0 Left_ventricular_noncompaction_cardiomyopathy 344 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKP2 mondo_mondo_0007152_medgen_c1862511_omim_107970_orphanet_3403 Arrhythmogenic right ventricular dysplasia 1 MONDO:MONDO:0007152,MedGen:C1862511,OMIM:107970,Orphanet:3403 1 1 1.0000 condition_record_support_limited 20 0 0 Arrhythmogenic_right_ventricular_dysplasia_1 344 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKP1 condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene PKIG mondo_mondo_0007064_medgen_c0392607_omim_102700_orphanet_277 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency MONDO:MONDO:0007064,MedGen:C0392607,OMIM:102700,Orphanet:277 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency 1 low_record_burden_interpretation_limited low_record_burden_gene PKIG human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_combined_immunodeficiency_disease 1 low_record_burden_interpretation_limited low_record_burden_gene PKIG medgen_c1863239 Partial adenosine deaminase deficiency MedGen:C1863239 1 1 1.0000 condition_record_support_limited 20 0 1 Partial_adenosine_deaminase_deficiency 1 low_record_burden_interpretation_limited low_record_burden_gene PKHD1 mondo_mondo_0013729_medgen_c3280674_omim_614391 Pregnancy loss, recurrent, susceptibility to, 3 MONDO:MONDO:0013729,MedGen:C3280674,OMIM:614391 1 1 1.0000 condition_record_support_limited 20 0 0 Pregnancy_loss,_recurrent,_susceptibility_to,_3 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PKHD1 mondo_mondo_0008263_medgen_c3149841_omim_173900 Polycystic kidney disease, adult type MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900 1 1 1.0000 condition_record_support_limited 20 0 1 Polycystic_kidney_disease,_adult_type 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PKHD1 polycystic_kidney_disease_4_with_or_without_hepatic_disease Polycystic kidney disease 4, with or without hepatic disease . 1 1 1.0000 condition_record_support_limited 20 0 0 Polycystic_kidney_disease_4,_with_or_without_hepatic_disease 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PKHD1 human_phenotype_ontology_hp_0001405_medgen_c1849766 Periportal fibrosis Human_Phenotype_Ontology:HP:0001405,MedGen:C1849766 1 1 1.0000 condition_record_support_limited 20 0 1 Periportal_fibrosis 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PKHD1 human_phenotype_ontology_hp_0001562_human_phenotype_ontology_hp_0004638_mondo_mondo_0005881_medgen_c0079924 Oligohydramnios Human_Phenotype_Ontology:HP:0001562,Human_Phenotype_Ontology:HP:0004638,MONDO:MONDO:0005881,MedGen:C0079924 1 1 1.0000 condition_record_support_limited 20 0 1 Oligohydramnios 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PKHD1 human_phenotype_ontology_hp_0012304_medgen_c0265881 Hypoplastic aortic arch Human_Phenotype_Ontology:HP:0012304,MedGen:C0265881 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplastic_aortic_arch 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PKHD1 cystic_renal_disease Cystic renal disease . 1 1 1.0000 condition_record_support_limited 20 0 1 Cystic_renal_disease 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PKHD1 medgen_c3149111 Colorectal cancer, protection against MedGen:C3149111 1 1 1.0000 condition_record_support_limited 20 0 1 Colorectal_cancer,_protection_against 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PKHD1 mondo_mondo_0009352_medgen_c0751202_omim_236200_orphanet_394 Classic homocystinuria MONDO:MONDO:0009352,MedGen:C0751202,OMIM:236200,Orphanet:394 1 1 1.0000 condition_record_support_limited 20 0 0 Classic_homocystinuria 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PKHD1 mondo_mondo_0004691_medgen_c0085413_orphanet_730 Autosomal dominant polycystic kidney disease MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_polycystic_kidney_disease 1558 large_gene_or_donor_burden_stress_case donor_burden_stress PKDCC human_phenotype_ontology_hp_0000924_medgen_c4021790 Abnormality of the skeletal system Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_skeletal_system 20 compact_adjacent_exon_block_opportunity local_compact_architecture PKD2 mondo_mondo_0008265_medgen_c0887850_omim_174050_orphanet_2924 Polycystic liver disease 1 MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924 1 1 1.0000 condition_record_support_limited 20 0 1 Polycystic_liver_disease_1 428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD2 mondo_mondo_0008263_medgen_c3149841_omim_173900 Polycystic kidney disease, adult type MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900 1 1 1.0000 condition_record_support_limited 20 0 0 Polycystic_kidney_disease,_adult_type 428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD2 human_phenotype_ontology_hp_0005562_medgen_c0431718 Multiple renal cysts Human_Phenotype_Ontology:HP:0005562,MedGen:C0431718 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_renal_cysts 428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD2 human_phenotype_ontology_hp_0000003_human_phenotype_ontology_hp_0004715_mondo_mondo_0015988_medgen_c3714581_orphanet_1851 Multicystic kidney dysplasia Human_Phenotype_Ontology:HP:0000003,Human_Phenotype_Ontology:HP:0004715,MONDO:MONDO:0015988,MedGen:C3714581,Orphanet:1851 1 1 1.0000 condition_record_support_limited 20 0 1 Multicystic_kidney_dysplasia 428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD2 human_phenotype_ontology_hp_0000822_human_phenotype_ontology_hp_0004949_human_phenotype_ontology_hp_0005126_mondo_mondo_0005044_medgen_c0020538 Hypertensive disorder Human_Phenotype_Ontology:HP:0000822,Human_Phenotype_Ontology:HP:0004949,Human_Phenotype_Ontology:HP:0005126,MONDO:MONDO:0005044,MedGen:C0020538 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertensive_disorder 428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD2 human_phenotype_ontology_hp_0004719_medgen_c3275899 Hyperechogenic kidneys Human_Phenotype_Ontology:HP:0004719,MedGen:C3275899 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperechogenic_kidneys 428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD2 human_phenotype_ontology_hp_0000105_medgen_c0542518 Enlarged kidney Human_Phenotype_Ontology:HP:0000105,MedGen:C0542518 1 1 1.0000 condition_record_support_limited 20 0 1 Enlarged_kidney 428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD2 human_phenotype_ontology_hp_0004421_human_phenotype_ontology_hp_0004956_medgen_c1840374 Elevated systolic blood pressure Human_Phenotype_Ontology:HP:0004421,Human_Phenotype_Ontology:HP:0004956,MedGen:C1840374 1 1 1.0000 condition_record_support_limited 20 0 1 Elevated_systolic_blood_pressure 428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD2 human_phenotype_ontology_hp_0005117_medgen_c1840375 Elevated diastolic blood pressure Human_Phenotype_Ontology:HP:0005117,MedGen:C1840375 1 1 1.0000 condition_record_support_limited 20 0 1 Elevated_diastolic_blood_pressure 428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD2 human_phenotype_ontology_hp_0000106_human_phenotype_ontology_hp_0001918_human_phenotype_ontology_hp_0008671_human_phenotype_ontology_hp_0012622_mondo_mondo_0005300_medgen_c1561643 Chronic kidney disease Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643 1 1 1.0000 condition_record_support_limited 20 0 1 Chronic_kidney_disease 428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD2 human_phenotype_ontology_hp_0001080_mondo_mondo_0004868_medgen_c0549613 Biliary tract abnormality Human_Phenotype_Ontology:HP:0001080,MONDO:MONDO:0004868,MedGen:C0549613 1 1 1.0000 condition_record_support_limited 20 0 1 Biliary_tract_abnormality 428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD2 mondo_mondo_0009889_mesh_d017044_medgen_c0085548_orphanet_731_orphanet_8378 Autosomal recessive polycystic kidney disease MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_polycystic_kidney_disease 428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD2 human_phenotype_ontology_hp_0025700_medgen_c0730379 Anhydramnios Human_Phenotype_Ontology:HP:0025700,MedGen:C0730379 1 1 1.0000 condition_record_support_limited 20 0 1 Anhydramnios 428 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PKD1L1 mondo_mondo_0018677_medgen_c3178805_omim_ps306955_orphanet_450 Visceral heterotaxy MONDO:MONDO:0018677,MedGen:C3178805,OMIM:PS306955,Orphanet:450 1 1 1.0000 condition_record_support_limited 20 0 1 Visceral_heterotaxy 60 large_gene_or_donor_burden_stress_case donor_burden_stress PKD1L1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 60 large_gene_or_donor_burden_stress_case donor_burden_stress PKD1L1 human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Heterotaxy Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 1 1 1.0000 condition_record_support_limited 20 0 0 Heterotaxy 60 large_gene_or_donor_burden_stress_case donor_burden_stress PKD1 mondo_mondo_0001734_medgen_c0041341_omim_ps191100_orphanet_805 Tuberous sclerosis syndrome MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805 1 1 1.0000 condition_record_support_limited 20 0 1 Tuberous_sclerosis_syndrome 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKD1 mondo_mondo_0013199_medgen_c1860707_omim_613254_orphanet_805 Tuberous sclerosis 2 MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805 1 1 1.0000 condition_record_support_limited 20 0 1 Tuberous_sclerosis_2 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKD1 human_phenotype_ontology_hp_0000101_human_phenotype_ontology_hp_0003774_human_phenotype_ontology_hp_0004720_human_phenotype_ontology_hp_0004725_human_phenotype_ontology_hp_0004733_human_phenotype_ontology_hp_0004738_human_phenotype_ontology_hp_0005570_mondo_mondo_0004375_medgen_c2316810 Stage 5 chronic kidney disease Human_Phenotype_Ontology:HP:0000101,Human_Phenotype_Ontology:HP:0003774,Human_Phenotype_Ontology:HP:0004720,Human_Phenotype_Ontology:HP:0004725,Human_Phenotype_Ontology:HP:0004733,Human_Phenotype_Ontology:HP:0004738,Human_Phenotype_Ontology:HP:0005570,MONDO:MONDO:0004375,MedGen:C2316810 1 1 1.0000 condition_record_support_limited 20 0 1 Stage_5_chronic_kidney_disease 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKD1 human_phenotype_ontology_hp_0008741_human_phenotype_ontology_hp_0100817_mondo_mondo_0006947_medgen_c0020545 Renovascular hypertension Human_Phenotype_Ontology:HP:0008741,Human_Phenotype_Ontology:HP:0100817,MONDO:MONDO:0006947,MedGen:C0020545 1 1 1.0000 condition_record_support_limited 20 0 1 Renovascular_hypertension 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKD1 human_phenotype_ontology_hp_0000083_human_phenotype_ontology_hp_0000084_human_phenotype_ontology_hp_0004723_medgen_c1565489 Renal insufficiency Human_Phenotype_Ontology:HP:0000083,Human_Phenotype_Ontology:HP:0000084,Human_Phenotype_Ontology:HP:0004723,MedGen:C1565489 1 1 1.0000 condition_record_support_limited 20 0 0 Renal_insufficiency 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKD1 mondo_mondo_0013131_medgen_c2751306_omim_613095 Polycystic kidney disease 2 MONDO:MONDO:0013131,MedGen:C2751306,OMIM:613095 1 1 1.0000 condition_record_support_limited 20 0 1 Polycystic_kidney_disease_2 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKD1 human_phenotype_ontology_hp_0008504_medgen_c4024664 Moderate sensorineural hearing impairment Human_Phenotype_Ontology:HP:0008504,MedGen:C4024664 1 1 1.0000 condition_record_support_limited 20 0 1 Moderate_sensorineural_hearing_impairment 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKD1 human_phenotype_ontology_hp_0004719_medgen_c3275899 Hyperechogenic kidneys Human_Phenotype_Ontology:HP:0004719,MedGen:C3275899 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperechogenic_kidneys 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKD1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer-predisposing_syndrome 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKD1 human_phenotype_ontology_hp_0000105_medgen_c0542518 Enlarged kidney Human_Phenotype_Ontology:HP:0000105,MedGen:C0542518 1 1 1.0000 condition_record_support_limited 20 0 1 Enlarged_kidney 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKD1 human_phenotype_ontology_hp_0002618_human_phenotype_ontology_hp_0004944_human_phenotype_ontology_hp_0006816_medgen_c4476540 Dilatation of the cerebral artery Human_Phenotype_Ontology:HP:0002618,Human_Phenotype_Ontology:HP:0004944,Human_Phenotype_Ontology:HP:0006816,MedGen:C4476540 1 1 1.0000 condition_record_support_limited 20 0 1 Dilatation_of_the_cerebral_artery 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKD1 human_phenotype_ontology_hp_0001080_mondo_mondo_0004868_medgen_c0549613 Biliary tract abnormality Human_Phenotype_Ontology:HP:0001080,MONDO:MONDO:0004868,MedGen:C0549613 1 1 1.0000 condition_record_support_limited 20 0 0 Biliary_tract_abnormality 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKD1 mondo_mondo_0009889_mesh_d017044_medgen_c0085548_orphanet_731_orphanet_8378 Autosomal recessive polycystic kidney disease MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_polycystic_kidney_disease 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKD1 human_phenotype_ontology_hp_0025700_medgen_c0730379 Anhydramnios Human_Phenotype_Ontology:HP:0025700,MedGen:C0730379 1 1 1.0000 condition_record_support_limited 20 0 1 Anhydramnios 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PKD1 human_phenotype_ontology_hp_0004708_human_phenotype_ontology_hp_0009779_medgen_c1834062 3-4 toe syndactyly Human_Phenotype_Ontology:HP:0004708,Human_Phenotype_Ontology:HP:0009779,MedGen:C1834062 1 1 1.0000 condition_record_support_limited 20 0 1 3-4_toe_syndactyly 2139 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PJVK medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PJVK human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 1.0000 condition_record_support_limited 20 0 1 Ear_malformation 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIWIL1 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility 1 low_record_burden_interpretation_limited low_record_burden_gene PITX3 human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_cataract 9 low_record_burden_interpretation_limited low_record_burden_gene PITX3 medgen_c3807151 Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities MedGen:C3807151 1 1 1.0000 condition_record_support_limited 20 0 1 Cataract_11,_posterior_polar,_with_microphthalmia_and_neurodevelopmental_abnormalities 9 low_record_burden_interpretation_limited low_record_burden_gene PITX3 medgen_c4310917 ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES MedGen:C4310917 1 1 1.0000 condition_record_support_limited 20 0 1 ANTERIOR_SEGMENT_DYSGENESIS_1,_MULTIPLE_SUBTYPES 9 low_record_burden_interpretation_limited low_record_burden_gene PITX2 mondo_mondo_0008387_medgen_c1867155_omim_180550_orphanet_91481 Ring dermoid of cornea MONDO:MONDO:0008387,MedGen:C1867155,OMIM:180550,Orphanet:91481 1 1 1.0000 condition_record_support_limited 20 0 1 Ring_dermoid_of_cornea 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PITX2 human_phenotype_ontology_hp_0000558_mondo_mondo_0019628_medgen_c0265341_orphanet_91483 Rieger anomaly Human_Phenotype_Ontology:HP:0000558,MONDO:MONDO:0019628,MedGen:C0265341,Orphanet:91483 1 1 1.0000 condition_record_support_limited 20 0 0 Rieger_anomaly 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PITX2 mondo_mondo_0019187_medgen_c3495488_omim_ps180500_orphanet_782 Axenfeld-Rieger syndrome MONDO:MONDO:0019187,MedGen:C3495488,OMIM:PS180500,Orphanet:782 1 1 1.0000 condition_record_support_limited 20 0 0 Axenfeld-Rieger_syndrome 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PITX2 mondo_mondo_0007180_medgen_c1862373_omim_109120 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities MONDO:MONDO:0007180,MedGen:C1862373,OMIM:109120 1 1 1.0000 condition_record_support_limited 20 0 1 Axenfeld-Rieger_anomaly_with_partially_absent_eye_muscles,_distinctive_face,_hydrocephaly,_and_skeletal_abnormalities 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PITX2 anterior_segment_dysgenesis_4_peters_anomaly_subtype ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPE . 1 1 1.0000 condition_record_support_limited 20 0 0 ANTERIOR_SEGMENT_DYSGENESIS_4,_PETERS_ANOMALY_SUBTYPE 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PITX1 mondo_mondo_0011758_medgen_c0086795_omim_607014_orphanet_93473 Hurler syndrome MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014,Orphanet:93473 1 1 1.0000 condition_record_support_limited 20 0 0 Hurler_syndrome 9 low_record_burden_interpretation_limited low_record_burden_gene PITRM1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene PITRM1 mondo_mondo_0010060_medgen_c1849096_omim_271245_orphanet_1186 Infantile onset spinocerebellar ataxia MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245,Orphanet:1186 1 1 1.0000 condition_record_support_limited 20 0 0 Infantile_onset_spinocerebellar_ataxia 4 low_record_burden_interpretation_limited low_record_burden_gene PITPNM3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene PITPNM3 mondo_mondo_0000455_medgen_c0730290_orphanet_1871 Cone dystrophy MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 1.0000 condition_record_support_limited 20 0 0 Cone_dystrophy 3 low_record_burden_interpretation_limited low_record_burden_gene PITPNM3 human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Cerebral arteriovenous malformation Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_arteriovenous_malformation 3 low_record_burden_interpretation_limited low_record_burden_gene PISD pisd_related_mitochondrial_disease PISD-related mitochondrial disease . 1 1 1.0000 condition_record_support_limited 20 0 1 PISD-related_mitochondrial_disease 11 low_record_burden_interpretation_limited low_record_burden_gene PIP5K1C mondo_mondo_1010145_medgen_cn379478 PIP5K1C-related neurodevelopmental disorder MONDO:MONDO:1010145,MedGen:CN379478 1 1 1.0000 condition_record_support_limited 20 0 1 PIP5K1C-related_neurodevelopmental_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene PIP5K1C mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 7 low_record_burden_interpretation_limited low_record_burden_gene PIP5K1A mondo_mondo_0032823_medgen_c5231497_omim_618587 Intellectual developmental disorder 60 with seizures MONDO:MONDO:0032823,MedGen:C5231497,OMIM:618587 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder_60_with_seizures 1 low_record_burden_interpretation_limited low_record_burden_gene PIP4K2B mondo_mondo_0008092_medgen_c0543669_omim_162830_orphanet_279943 Hereditary neutrophilia MONDO:MONDO:0008092,MedGen:C0543669,OMIM:162830,Orphanet:279943 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_neutrophilia 1 low_record_burden_interpretation_limited low_record_burden_gene PIP4K2B mondo_mondo_0014865_medgen_c4310764_omim_617014_orphanet_420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency MONDO:MONDO:0014865,MedGen:C4310764,OMIM:617014,Orphanet:420702 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_severe_congenital_neutropenia_due_to_CSF3R_deficiency 1 low_record_burden_interpretation_limited low_record_burden_gene PINK1 parkinson_disease_autosomal_recessive_early_onset_digenic_pink1_dj1 Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 MedGen:CN043330 1 1 1.0000 condition_record_support_limited 20 0 0 Parkinson_disease,_autosomal_recessive_early-onset,_digenic,_PINK1/DJ1 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PINK1 pink1_related_parkinsonism PINK1-Related Parkinsonism . 1 1 1.0000 condition_record_support_limited 20 0 1 PINK1-Related_Parkinsonism 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3R2 mondo_mondo_0100283_medgen_cn300503 Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes MONDO:MONDO:0100283,MedGen:CN300503 1 1 1.0000 condition_record_support_limited 20 0 1 Overgrowth_syndrome_and/or_cerebral_malformations_due_to_abnormalities_in_MTOR_pathway_genes 16 low_record_burden_interpretation_limited low_record_burden_gene PIK3R2 mondo_mondo_0019375_medgen_c1863924_omim_ps603387_orphanet_83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome MONDO:MONDO:0019375,MedGen:C1863924,OMIM:PS603387,Orphanet:83473 1 1 1.0000 condition_record_support_limited 20 0 1 Megalencephaly-polymicrogyria-postaxial_polydactyly-hydrocephalus_syndrome 16 low_record_burden_interpretation_limited low_record_burden_gene PIK3R2 mondo_mondo_0011240_medgen_c1865285_omim_602501_orphanet_60040 Megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:MONDO:0011240,MedGen:C1865285,OMIM:602501,Orphanet:60040 1 1 1.0000 condition_record_support_limited 20 0 1 Megalencephaly-capillary_malformation-polymicrogyria_syndrome 16 low_record_burden_interpretation_limited low_record_burden_gene PIK3R2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 16 low_record_burden_interpretation_limited low_record_burden_gene PIK3R2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 16 low_record_burden_interpretation_limited low_record_burden_gene PIK3R1 mondo_mondo_0014222_medgen_c3714976_omim_615513_orphanet_397596_orphanet_693661 Immunodeficiency 14 MONDO:MONDO:0014222,MedGen:C3714976,OMIM:615513,Orphanet:397596,Orphanet:693661 1 1 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency_14 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3R1 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 1 Colorectal_cancer 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CG condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene PIK3CD pik3cd_related_disorder PIK3CD-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PIK3CD-related_disorder 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CD medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CD mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_Immunodeficiency_Diseases 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CD mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CD human_phenotype_ontology_hp_0002715_human_phenotype_ontology_hp_0003257_human_phenotype_ontology_hp_0003346_human_phenotype_ontology_hp_0010986_medgen_c4021753 Abnormality of the immune system Human_Phenotype_Ontology:HP:0002715,Human_Phenotype_Ontology:HP:0003257,Human_Phenotype_Ontology:HP:0003346,Human_Phenotype_Ontology:HP:0010986,MedGen:C4021753 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_immune_system 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CB mondo_mondo_0016996_medgen_c4509932_orphanet_263665 NK-cell enteropathy MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665 1 1 1.0000 condition_record_support_limited 20 0 0 NK-cell_enteropathy 1 low_record_burden_interpretation_limited low_record_burden_gene PIK3CA human_phenotype_ontology_hp_0001297_human_phenotype_ontology_hp_0002452_mondo_mondo_0005098_mesh_d020521_medgen_c0038454 Stroke disorder Human_Phenotype_Ontology:HP:0001297,Human_Phenotype_Ontology:HP:0002452,MONDO:MONDO:0005098,MeSH:D020521,MedGen:C0038454 1 1 1.0000 condition_record_support_limited 20 0 1 Stroke_disorder 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0030359_mondo_mondo_0005097_medgen_c0149782 Squamous cell lung carcinoma Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782 1 1 1.0000 condition_record_support_limited 20 0 0 Squamous_cell_lung_carcinoma 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0100242_mondo_mondo_0005089_medgen_c1261473 Sarcoma Human_Phenotype_Ontology:HP:0100242,MONDO:MONDO:0005089,MedGen:C1261473 1 1 1.0000 condition_record_support_limited 20 0 1 Sarcoma 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0025171_mondo_mondo_0016736_medgen_c4331262_orphanet_251975 Rosette-forming glioneuronal tumor Human_Phenotype_Ontology:HP:0025171,MONDO:MONDO:0016736,MedGen:C4331262,Orphanet:251975 1 1 1.0000 condition_record_support_limited 20 0 1 Rosette-forming_glioneuronal_tumor 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Prostate cancer Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 1 1 1.0000 condition_record_support_limited 20 0 1 Prostate_cancer 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA pik3ca_related_overgrowth PIK3CA-related overgrowth . 1 1 1.0000 condition_record_support_limited 20 0 1 PIK3CA-related_overgrowth 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA pik3ca_related_overgrowth_spectrum_disorders PIK3CA-Related Overgrowth Spectrum Disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 PIK3CA-Related_Overgrowth_Spectrum_Disorders 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA pik3c1_related_disorder PIK3C1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PIK3C1-related_disorder 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 1 Ovarian_cancer 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0014143_medgen_c3809233_omim_615355_orphanet_648 Noonan syndrome 8 MONDO:MONDO:0014143,MedGen:C3809233,OMIM:615355,Orphanet:648 1 1 1.0000 condition_record_support_limited 20 0 1 Noonan_syndrome_8 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0006753_mondo_mondo_0021085_medgen_c0038356 Neoplasm of stomach Human_Phenotype_Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356 1 1 1.0000 condition_record_support_limited 20 0 1 Neoplasm_of_stomach 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0007961_medgen_c3805727_omim_155350 Megalencephaly, autosomal dominant MONDO:MONDO:0007961,MedGen:C3805727,OMIM:155350 1 1 1.0000 condition_record_support_limited 20 0 1 Megalencephaly,_autosomal_dominant 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 1 1 1.0000 condition_record_support_limited 20 0 0 Malignant_tumor_of_urinary_bladder 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0100747_mondo_mondo_0017475_medgen_c0158768_orphanet_295047 Macrodactyly of toe Human_Phenotype_Ontology:HP:0100747,MONDO:MONDO:0017475,MedGen:C0158768,Orphanet:295047 1 1 1.0000 condition_record_support_limited 20 0 1 Macrodactyly_of_toe 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0019313_medgen_c0398368_omim_ps153100 Lymphatic malformation MONDO:MONDO:0019313,MedGen:C0398368,OMIM:PS153100 1 1 1.0000 condition_record_support_limited 20 0 0 Lymphatic_malformation 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0005138_medgen_c0684249 Lung carcinoma MONDO:MONDO:0005138,MedGen:C0684249 1 1 1.0000 condition_record_support_limited 20 0 1 Lung_carcinoma 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA klippel_trenaunay_like_syndrome Klippel-Trenaunay-like-Syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 Klippel-Trenaunay-like-Syndrome 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0031525_mondo_mondo_0002527_mesh_d007636_medgen_c0022572 Keratoacanthoma Human_Phenotype_Ontology:HP:0031525,MONDO:MONDO:0002527,MeSH:D007636,MedGen:C0022572 1 1 1.0000 condition_record_support_limited 20 0 1 Keratoacanthoma 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0100668_medgen_c0266166 Intestinal duplication Human_Phenotype_Ontology:HP:0100668,MedGen:C0266166 1 1 1.0000 condition_record_support_limited 20 0 1 Intestinal_duplication 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0000047_mondo_mondo_0005345_medgen_c0848558_omim_ps300633 Hypospadias Human_Phenotype_Ontology:HP:0000047,MONDO:MONDO:0005345,MedGen:C0848558,OMIM:PS300633 1 1 1.0000 condition_record_support_limited 20 0 1 Hypospadias 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Hypertelorism Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertelorism 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0001528_human_phenotype_ontology_hp_0006416_medgen_c0332890 Hemihypertrophy Human_Phenotype_Ontology:HP:0001528,Human_Phenotype_Ontology:HP:0006416,MedGen:C0332890 1 1 1.0000 condition_record_support_limited 20 0 1 Hemihypertrophy 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0009290_medgen_c0017921_omim_232300_orphanet_365 Glycogen storage disease, type II MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365 1 1 1.0000 condition_record_support_limited 20 0 0 Glycogen_storage_disease,_type_II 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0005411_medgen_c0153452 Gallbladder cancer MONDO:MONDO:0005411,MedGen:C0153452 1 1 1.0000 condition_record_support_limited 20 0 1 Gallbladder_cancer 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Endometrial carcinoma Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 1 1 1.0000 condition_record_support_limited 20 0 0 Endometrial_carcinoma 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0975755_medgen_c0406801_orphanet_673568 Eccrine angiomatous hamartoma MONDO:MONDO:0975755,MedGen:C0406801,Orphanet:673568 1 1 1.0000 condition_record_support_limited 20 0 1 Eccrine_angiomatous_hamartoma 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0009110_human_phenotype_ontology_hp_0009114_mondo_mondo_0006726_mesh_d003965_medgen_c0011981 Diaphragmatic eventration Human_Phenotype_Ontology:HP:0009110,Human_Phenotype_Ontology:HP:0009114,MONDO:MONDO:0006726,MeSH:D003965,MedGen:C0011981 1 1 1.0000 condition_record_support_limited 20 0 1 Diaphragmatic_eventration 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0859192_medgen_c5561991_omim_619538 Cerebral cavernous malformation 4 MONDO:MONDO:0859192,MedGen:C5561991,OMIM:619538 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_cavernous_malformation_4 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0019328_medgen_c0205828_orphanet_79489 Cavernous lymphangioma MONDO:MONDO:0019328,MedGen:C0205828,Orphanet:79489 1 1 1.0000 condition_record_support_limited 20 0 1 Cavernous_lymphangioma 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA mondo_mondo_0020783_medgen_c4747394_omim_608354_orphanet_137667 Capillary malformation-arteriovenous malformation 1 MONDO:MONDO:0020783,MedGen:C4747394,OMIM:608354,Orphanet:137667 1 1 1.0000 condition_record_support_limited 20 0 0 Capillary_malformation-arteriovenous_malformation_1 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 1 1 1.0000 condition_record_support_limited 20 0 1 Breast_carcinoma 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0100026_mesh_d001165_medgen_c0003857 Arteriovenous malformation Human_Phenotype_Ontology:HP:0100026,MeSH:D001165,MedGen:C0003857 1 1 1.0000 condition_record_support_limited 20 0 0 Arteriovenous_malformation 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3CA human_phenotype_ontology_hp_0009553_medgen_c4024297 Abnormality of the hairline Human_Phenotype_Ontology:HP:0009553,MedGen:C4024297 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_hairline 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIK3C2G plcz1_related_disorder PLCZ1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PLCZ1-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene PIK3C2G human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Esophageal atresia/tracheoesophageal fistula Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 1.0000 condition_record_support_limited 20 0 0 Esophageal_atresia/tracheoesophageal_fistula 14 low_record_burden_interpretation_limited low_record_burden_gene PIK3C2A human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 30 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PIH1D2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene PIH1D2 mondo_mondo_0009502_medgen_c1855565_omim_245348_orphanet_765_orphanet_79244 Pyruvate dehydrogenase E2 deficiency MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348,Orphanet:765,Orphanet:79244 1 1 1.0000 condition_record_support_limited 20 0 0 Pyruvate_dehydrogenase_E2_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene PIGY mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_disease 3 low_record_burden_interpretation_limited low_record_burden_gene PIGW condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene PIGV pigv_related_disorder PIGV-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PIGV-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene PIGV mondo_mondo_0016596_medgen_c1855923_omim_ps239300_orphanet_247262 Hyperphosphatasia-intellectual disability syndrome MONDO:MONDO:0016596,MedGen:C1855923,OMIM:PS239300,Orphanet:247262 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperphosphatasia-intellectual_disability_syndrome 9 low_record_burden_interpretation_limited low_record_burden_gene PIGT human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGT human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGS condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene PIGQ human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 1.0000 condition_record_support_limited 20 0 1 Optic_atrophy 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGQ medgen_c2674422 Intractable seizure MedGen:C2674422 1 1 1.0000 condition_record_support_limited 20 0 1 Intractable_seizure 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGQ human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGQ mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGP pigp_related_disorder PIGP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PIGP-related_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene PIGO mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGO mondo_mondo_0009398_medgen_c4551502_omim_239300_orphanet_247262 Hyperphosphatasia with intellectual disability syndrome 1 MONDO:MONDO:0009398,MedGen:C4551502,OMIM:239300,Orphanet:247262 1 1 1.0000 condition_record_support_limited 20 0 0 Hyperphosphatasia_with_intellectual_disability_syndrome_1 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGM mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 2 low_record_burden_interpretation_limited low_record_burden_gene PIGM mondo_mondo_0012465_medgen_c5201145_omim_610293_orphanet_83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency MONDO:MONDO:0012465,MedGen:C5201145,OMIM:610293,Orphanet:83639 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercoagulability_syndrome_due_to_glycosylphosphatidylinositol_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene PIGL human_phenotype_ontology_hp_0000779_human_phenotype_ontology_hp_0001554_human_phenotype_ontology_hp_0006610_medgen_c1827524 Wide intermamillary distance Human_Phenotype_Ontology:HP:0000779,Human_Phenotype_Ontology:HP:0001554,Human_Phenotype_Ontology:HP:0006610,MedGen:C1827524 1 1 1.0000 condition_record_support_limited 20 0 1 Wide_intermamillary_distance 20 compact_adjacent_exon_block_opportunity local_compact_architecture PIGL mondo_mondo_0000508_medgen_c5680525_orphanet_183763 Syndromic intellectual disability MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 1.0000 condition_record_support_limited 20 0 1 Syndromic_intellectual_disability 20 compact_adjacent_exon_block_opportunity local_compact_architecture PIGL human_phenotype_ontology_hp_0001622_medgen_c0151526 Premature birth Human_Phenotype_Ontology:HP:0001622,MedGen:C0151526 1 1 1.0000 condition_record_support_limited 20 0 1 Premature_birth 20 compact_adjacent_exon_block_opportunity local_compact_architecture PIGL human_phenotype_ontology_hp_0001162_human_phenotype_ontology_hp_0004698_human_phenotype_ontology_hp_0005763_human_phenotype_ontology_hp_0009984_mondo_mondo_0017426_medgen_c0431904 Postaxial hand polydactyly Human_Phenotype_Ontology:HP:0001162,Human_Phenotype_Ontology:HP:0004698,Human_Phenotype_Ontology:HP:0005763,Human_Phenotype_Ontology:HP:0009984,MONDO:MONDO:0017426,MedGen:C0431904 1 1 1.0000 condition_record_support_limited 20 0 1 Postaxial_hand_polydactyly 20 compact_adjacent_exon_block_opportunity local_compact_architecture PIGL human_phenotype_ontology_hp_0000369_medgen_c0239234 Low-set ears Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234 1 1 1.0000 condition_record_support_limited 20 0 1 Low-set_ears 20 compact_adjacent_exon_block_opportunity local_compact_architecture PIGL human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 20 compact_adjacent_exon_block_opportunity local_compact_architecture PIGL mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 20 compact_adjacent_exon_block_opportunity local_compact_architecture PIGL medgen_c0431659 Hypoplasia of scrotum MedGen:C0431659 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplasia_of_scrotum 20 compact_adjacent_exon_block_opportunity local_compact_architecture PIGL human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Hypertelorism Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertelorism 20 compact_adjacent_exon_block_opportunity local_compact_architecture PIGL mondo_mondo_0009398_medgen_c4551502_omim_239300_orphanet_247262 Hyperphosphatasia with intellectual disability syndrome 1 MONDO:MONDO:0009398,MedGen:C4551502,OMIM:239300,Orphanet:247262 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperphosphatasia_with_intellectual_disability_syndrome_1 20 compact_adjacent_exon_block_opportunity local_compact_architecture PIGL human_phenotype_ontology_hp_0005651_human_phenotype_ontology_hp_0005662_human_phenotype_ontology_hp_0005713_human_phenotype_ontology_hp_0005801_human_phenotype_ontology_hp_0005821_human_phenotype_ontology_hp_0006195_human_phenotype_ontology_hp_0006218_human_phenotype_ontology_hp_0006240_human_phenotype_ontology_hp_0009698_human_phenotype_ontology_hp_0100490_medgen_c0409348 Camptodactyly of finger Human_Phenotype_Ontology:HP:0005651,Human_Phenotype_Ontology:HP:0005662,Human_Phenotype_Ontology:HP:0005713,Human_Phenotype_Ontology:HP:0005801,Human_Phenotype_Ontology:HP:0005821,Human_Phenotype_Ontology:HP:0006195,Human_Phenotype_Ontology:HP:0006218,Human_Phenotype_Ontology:HP:0006240,Human_Phenotype_Ontology:HP:0009698,Human_Phenotype_Ontology:HP:0100490,MedGen:C0409348 1 1 1.0000 condition_record_support_limited 20 0 1 Camptodactyly_of_finger 20 compact_adjacent_exon_block_opportunity local_compact_architecture PIGL human_phenotype_ontology_hp_0002744_medgen_c1398522 Bilateral cleft lip and palate Human_Phenotype_Ontology:HP:0002744,MedGen:C1398522 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_cleft_lip_and_palate 20 compact_adjacent_exon_block_opportunity local_compact_architecture PIGG human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGG pigg_related_disorder PIGG-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PIGG-related_disorder 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGG medgen_c5676953_omim_619812 BLOOD GROUP, EMM SYSTEM MedGen:C5676953,OMIM:619812 1 1 1.0000 condition_record_support_limited 20 0 1 BLOOD_GROUP,_EMM_SYSTEM 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGF mondo_mondo_0014347_medgen_c4014339_omim_615789 Rothmund-Thomson syndrome type 3 MONDO:MONDO:0014347,MedGen:C4014339,OMIM:615789 1 1 1.0000 condition_record_support_limited 20 0 0 Rothmund-Thomson_syndrome_type_3 1 low_record_burden_interpretation_limited low_record_burden_gene PIGC human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 7 low_record_burden_interpretation_limited low_record_burden_gene PIGA piga_related_disorder PIGA-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PIGA-related_disorder 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIGA human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 0 Epileptic_encephalopathy 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PIEZO2 human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 1.0000 condition_record_support_limited 20 0 1 Scoliosis 134 large_gene_or_donor_burden_stress_case donor_burden_stress PIEZO2 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 0 Hypotonia 134 large_gene_or_donor_burden_stress_case donor_burden_stress PIEZO2 mondo_mondo_0013403_medgen_c3151057_omim_613751_orphanet_450 Heterotaxy, visceral, 4, autosomal MONDO:MONDO:0013403,MedGen:C3151057,OMIM:613751,Orphanet:450 1 1 1.0000 condition_record_support_limited 20 0 0 Heterotaxy,_visceral,_4,_autosomal 134 large_gene_or_donor_burden_stress_case donor_burden_stress PIEZO2 human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive 134 large_gene_or_donor_burden_stress_case donor_burden_stress PIEZO2 fam38b_related_disorder FAM38B-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FAM38B-related_disorder 134 large_gene_or_donor_burden_stress_case donor_burden_stress PIEZO2 human_phenotype_ontology_hp_0001738_human_phenotype_ontology_hp_0002581_human_phenotype_ontology_hp_0004508_human_phenotype_ontology_hp_0004509_mondo_mondo_0001684_medgen_c0267963 Exocrine pancreatic insufficiency Human_Phenotype_Ontology:HP:0001738,Human_Phenotype_Ontology:HP:0002581,Human_Phenotype_Ontology:HP:0004508,Human_Phenotype_Ontology:HP:0004509,MONDO:MONDO:0001684,MedGen:C0267963 1 1 1.0000 condition_record_support_limited 20 0 1 Exocrine_pancreatic_insufficiency 134 large_gene_or_donor_burden_stress_case donor_burden_stress PIEZO2 human_phenotype_ontology_hp_0005684_mondo_mondo_0019942_medgen_c0265213_omim_ps108120_orphanet_97120 Distal arthrogryposis Human_Phenotype_Ontology:HP:0005684,MONDO:MONDO:0019942,MedGen:C0265213,OMIM:PS108120,Orphanet:97120 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_arthrogryposis 134 large_gene_or_donor_burden_stress_case donor_burden_stress PIEZO2 human_phenotype_ontology_hp_0007431_human_phenotype_ontology_hp_0007478_human_phenotype_ontology_hp_0007484_medgen_c0079583 Congenital ichthyosiform erythroderma Human_Phenotype_Ontology:HP:0007431,Human_Phenotype_Ontology:HP:0007478,Human_Phenotype_Ontology:HP:0007484,MedGen:C0079583 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_ichthyosiform_erythroderma 134 large_gene_or_donor_burden_stress_case donor_burden_stress PIEZO2 human_phenotype_ontology_hp_0000924_medgen_c4021790 Abnormality of the skeletal system Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_skeletal_system 134 large_gene_or_donor_burden_stress_case donor_burden_stress PIEZO1 er_blood_group_system_er_a_b ER BLOOD GROUP SYSTEM, ER(a-b-) . 1 1 1.0000 condition_record_support_limited 20 0 1 ER_BLOOD_GROUP_SYSTEM,_ER(a-b-) 120 large_gene_or_donor_burden_stress_case donor_burden_stress PIEZO1 mondo_mondo_0015408_medgen_c3839921_orphanet_141209 Diffuse lymphatic malformation MONDO:MONDO:0015408,MedGen:C3839921,Orphanet:141209 1 1 1.0000 condition_record_support_limited 20 0 0 Diffuse_lymphatic_malformation 120 large_gene_or_donor_burden_stress_case donor_burden_stress PIDD1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 15 low_record_burden_interpretation_limited low_record_burden_gene PID1 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 1 low_record_burden_interpretation_limited low_record_burden_gene PIBF1 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 1 1 1.0000 condition_record_support_limited 20 0 0 Joubert_syndrome 17 low_record_burden_interpretation_limited low_record_burden_gene PIBF1 mondo_mondo_0005439_medgen_c0020445_omim_ps143890 Familial hypercholesterolemia MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_hypercholesterolemia 17 low_record_burden_interpretation_limited low_record_burden_gene PIAS1 human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Nephronophthisis Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 1 1 1.0000 condition_record_support_limited 20 0 0 Nephronophthisis 1 low_record_burden_interpretation_limited low_record_burden_gene PI4KA mondo_mondo_0009861_medgen_c0031485_omim_261600_orphanet_716 Phenylketonuria MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716 1 1 1.0000 condition_record_support_limited 20 0 1 Phenylketonuria 42 large_gene_or_donor_burden_stress_case donor_burden_stress PI4KA mesh_d006470_medgen_c0019080 Hemorrhage MeSH:D006470,MedGen:C0019080 1 1 1.0000 condition_record_support_limited 20 0 0 Hemorrhage 42 large_gene_or_donor_burden_stress_case donor_burden_stress PHYH refsum_syndrome Refsum syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 Refsum_syndrome 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHYH mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHOX2B congenital_central_hypoventilation_syndrome_with_or_without_hirschsprung_disease Congenital central hypoventilation syndrome, with or without Hirschsprung disease . 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_central_hypoventilation_syndrome,_with_or_without_Hirschsprung_disease 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHOX2B human_phenotype_ontology_hp_0002029_human_phenotype_ontology_hp_0002030_human_phenotype_ontology_hp_0002251_human_phenotype_ontology_hp_0002606_human_phenotype_ontology_hp_0004391_mondo_mondo_0018309_mesh_d006627_medgen_c0019569_omim_ps142623_orphanet_388 Aganglionic megacolon Human_Phenotype_Ontology:HP:0002029,Human_Phenotype_Ontology:HP:0002030,Human_Phenotype_Ontology:HP:0002251,Human_Phenotype_Ontology:HP:0002606,Human_Phenotype_Ontology:HP:0004391,MONDO:MONDO:0018309,MeSH:D006627,MedGen:C0019569,OMIM:PS142623,Orphanet:388 1 1 1.0000 condition_record_support_limited 20 0 0 Aganglionic_megacolon 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHKG2 phkg2_related_disorder PHKG2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PHKG2-related_disorder 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHKB mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_disease 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHKB mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 Glycogen storage disease MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 1 1 1.0000 condition_record_support_limited 20 0 0 Glycogen_storage_disease 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHKA2 x_linked_phka2_related_disorders X-linked PHKA2-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 X-linked_PHKA2-related_disorders 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHKA2 human_phenotype_ontology_hp_0006568_medgen_c1856285 Increased hepatic glycogen content Human_Phenotype_Ontology:HP:0006568,MedGen:C1856285 1 1 1.0000 condition_record_support_limited 20 0 1 Increased_hepatic_glycogen_content 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHKA2 mondo_mondo_0010371_medgen_c0268505_omim_300600_orphanet_178333 Aland island eye disease MONDO:MONDO:0010371,MedGen:C0268505,OMIM:300600,Orphanet:178333 1 1 1.0000 condition_record_support_limited 20 0 0 Aland_island_eye_disease 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHKA1 phka1_related_disorder PHKA1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PHKA1-related_disorder 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHKA1 mondo_mondo_0010703_medgen_c0268542_omim_311250_orphanet_664 Ornithine carbamoyltransferase deficiency MONDO:MONDO:0010703,MedGen:C0268542,OMIM:311250,Orphanet:664 1 1 1.0000 condition_record_support_limited 20 0 0 Ornithine_carbamoyltransferase_deficiency 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHKA1 mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 Glycogen storage disease MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 1 1 1.0000 condition_record_support_limited 20 0 0 Glycogen_storage_disease 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHIP mondo_mondo_0000508_medgen_c5680525_orphanet_183763 Syndromic intellectual disability MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 1.0000 condition_record_support_limited 20 0 1 Syndromic_intellectual_disability 177 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PHIP human_phenotype_ontology_hp_0100753_mondo_mondo_0005090_mesh_d012559_medgen_c0036341_omim_181500 Schizophrenia Human_Phenotype_Ontology:HP:0100753,MONDO:MONDO:0005090,MeSH:D012559,MedGen:C0036341,OMIM:181500 1 1 1.0000 condition_record_support_limited 20 0 0 Schizophrenia 177 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PHIP human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 177 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PHIP human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 177 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PHGDH human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHGDH phgdh_related_disorder PHGDH-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PHGDH-related_disorder 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHGDH mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHGDH human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 1 Epileptic_encephalopathy 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF8 phf8_related_disorder PHF8-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 PHF8-related_disorder 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF8 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF7 mondo_mondo_0859230_medgen_c5676925_omim_619762 Kury-Isidor syndrome MONDO:MONDO:0859230,MedGen:C5676925,OMIM:619762 1 1 1.0000 condition_record_support_limited 20 0 0 Kury-Isidor_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene PHF6 human_phenotype_ontology_hp_0001007_medgen_c0019572 Hirsutism Human_Phenotype_Ontology:HP:0001007,MedGen:C0019572 1 1 1.0000 condition_record_support_limited 20 0 1 Hirsutism 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF6 mondo_mondo_0008438_medgen_c1866855_omim_182601_orphanet_100985 Hereditary spastic paraplegia 4 MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601,Orphanet:100985 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia_4 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF6 medgen_c4013980 Early onset severe obesity MedGen:C4013980 1 1 1.0000 condition_record_support_limited 20 0 0 Early_onset_severe_obesity 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF3 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF21A phf21a_related_disorder PHF21A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PHF21A-related_disorder 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF21A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHF2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene PHEX mondo_mondo_0019642_mesh_d053098_medgen_c3536983_orphanet_93160 Vitamin D-dependent rickets, type 2 MONDO:MONDO:0019642,MeSH:D053098,MedGen:C3536983,Orphanet:93160 1 1 1.0000 condition_record_support_limited 20 0 1 Vitamin_D-dependent_rickets,_type_2 842 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHEX human_phenotype_ontology_hp_0012514_medgen_c0023222 Lower limb pain Human_Phenotype_Ontology:HP:0012514,MedGen:C0023222 1 1 1.0000 condition_record_support_limited 20 0 1 Lower_limb_pain 842 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHEX human_phenotype_ontology_hp_0002148_mondo_mondo_0000313_medgen_c0085682 Hypophosphatemia Human_Phenotype_Ontology:HP:0002148,MONDO:MONDO:0000313,MedGen:C0085682 1 1 1.0000 condition_record_support_limited 20 0 0 Hypophosphatemia 842 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHEX human_phenotype_ontology_hp_0002979_human_phenotype_ontology_hp_0006428_medgen_c5574706 Bowing of the legs Human_Phenotype_Ontology:HP:0002979,Human_Phenotype_Ontology:HP:0006428,MedGen:C5574706 1 1 1.0000 condition_record_support_limited 20 0 1 Bowing_of_the_legs 842 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHEX mondo_mondo_0008660_medgen_c0342642_omim_193100_orphanet_89937 Autosomal dominant hypophosphatemic rickets MONDO:MONDO:0008660,MedGen:C0342642,OMIM:193100,Orphanet:89937 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_hypophosphatemic_rickets 842 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PHC1 human_phenotype_ontology_hp_0011451_medgen_c2677180 Primary microcephaly Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_microcephaly 2 low_record_burden_interpretation_limited low_record_burden_gene PHC1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 2 low_record_burden_interpretation_limited low_record_burden_gene PGM3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PGM2L1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 8 low_record_burden_interpretation_limited low_record_burden_gene PGM1 mondo_mondo_0015286_medgen_c0282577_orphanet_137 Congenital disorder of glycosylation MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_disorder_of_glycosylation 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PGK1 medgen_c5680348_orphanet_98343 Male infertility due to obstructive azoospermia MedGen:C5680348,Orphanet:98343 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_due_to_obstructive_azoospermia 17 low_record_burden_interpretation_limited low_record_burden_gene PGGHG condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene PGGHG mondo_mondo_0008159_medgen_c0029458 Postmenopausal osteoporosis MONDO:MONDO:0008159,MedGen:C0029458 1 1 1.0000 condition_record_support_limited 20 0 1 Postmenopausal_osteoporosis 1 low_record_burden_interpretation_limited low_record_burden_gene PGGHG mondo_mondo_0012591_medgen_c2931093_omim_610967_orphanet_216828 Osteogenesis imperfecta type 5 MONDO:MONDO:0012591,MedGen:C2931093,OMIM:610967,Orphanet:216828 1 1 1.0000 condition_record_support_limited 20 0 1 Osteogenesis_imperfecta_type_5 1 low_record_burden_interpretation_limited low_record_burden_gene PGGHG mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 Osteogenesis imperfecta MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 1 1 1.0000 condition_record_support_limited 20 0 1 Osteogenesis_imperfecta 1 low_record_burden_interpretation_limited low_record_burden_gene PGGHG ifitm5_related_disorder IFITM5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 IFITM5-related_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene PGAP3 pgap3_related_disorder PGAP3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PGAP3-related_disorder 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PGAP3 mondo_mondo_0016596_medgen_c1855923_omim_ps239300_orphanet_247262 Hyperphosphatasia-intellectual disability syndrome MONDO:MONDO:0016596,MedGen:C1855923,OMIM:PS239300,Orphanet:247262 1 1 1.0000 condition_record_support_limited 20 0 0 Hyperphosphatasia-intellectual_disability_syndrome 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PGAP2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene PGAP2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 15 low_record_burden_interpretation_limited low_record_burden_gene PGAP2 mondo_mondo_0100062_medgen_cn379639_omim_ps308350 Genetic developmental and epileptic encephalopathy MONDO:MONDO:0100062,MedGen:CN379639,OMIM:PS308350 1 1 1.0000 condition_record_support_limited 20 0 0 Genetic_developmental_and_epileptic_encephalopathy 15 low_record_burden_interpretation_limited low_record_burden_gene PGAP2 mondo_mondo_0013188_medgen_c2750509_omim_613227_orphanet_1766 Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 MONDO:MONDO:0013188,MedGen:C2750509,OMIM:613227,Orphanet:1766 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_3 15 low_record_burden_interpretation_limited low_record_burden_gene PGAM2 human_phenotype_ontology_hp_0003201_medgen_c0035410 Rhabdomyolysis Human_Phenotype_Ontology:HP:0003201,MedGen:C0035410 1 1 1.0000 condition_record_support_limited 20 0 0 Rhabdomyolysis 12 low_record_burden_interpretation_limited low_record_burden_gene PGAM2 pgam2_related_disorder PGAM2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PGAM2-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene PFN1 pfn1_related_disorder PFN1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PFN1-related_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene PFN1 human_phenotype_ontology_hp_0002180_mondo_mondo_0005559_medgen_c0027746 Neurodegeneration Human_Phenotype_Ontology:HP:0002180,MONDO:MONDO:0005559,MedGen:C0027746 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodegeneration 5 low_record_burden_interpretation_limited low_record_burden_gene PFN1 human_phenotype_ontology_hp_0002065_human_phenotype_ontology_hp_0002477_human_phenotype_ontology_hp_0007340_human_phenotype_ontology_hp_0009047_medgen_c1836296 Lower limb muscle weakness Human_Phenotype_Ontology:HP:0002065,Human_Phenotype_Ontology:HP:0002477,Human_Phenotype_Ontology:HP:0007340,Human_Phenotype_Ontology:HP:0009047,MedGen:C1836296 1 1 1.0000 condition_record_support_limited 20 0 0 Lower_limb_muscle_weakness 5 low_record_burden_interpretation_limited low_record_burden_gene PFKM human_phenotype_ontology_hp_0003201_medgen_c0035410 Rhabdomyolysis Human_Phenotype_Ontology:HP:0003201,MedGen:C0035410 1 1 1.0000 condition_record_support_limited 20 0 1 Rhabdomyolysis 134 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PFKM medgen_c3551381 Peroxisomal biogenesis disorder 3b MedGen:C3551381 1 1 1.0000 condition_record_support_limited 20 0 0 Peroxisomal_biogenesis_disorder_3b 134 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PFKM mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 Glycogen storage disease MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 1 1 1.0000 condition_record_support_limited 20 0 1 Glycogen_storage_disease 134 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PFAS condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene PEX7 mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 Peroxisome biogenesis disorder MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 1 1 1.0000 condition_record_support_limited 20 0 1 Peroxisome_biogenesis_disorder 142 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX7 intermediate_form_of_pex7_related_rhizomelic_chondrodysplasia_punctata Intermediate form of PEX7 related rhizomelic chondrodysplasia punctata . 1 1 1.0000 condition_record_support_limited 20 0 0 Intermediate_form_of_PEX7_related_rhizomelic_chondrodysplasia_punctata 142 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX7 mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 1 1 1.0000 condition_record_support_limited 20 0 1 Connective_tissue_disorder 142 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX7 human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_metabolism/homeostasis 142 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX6 mondo_mondo_0008736_medgen_c3550234_omim_202370_orphanet_44 Peroxisome biogenesis disorder 2B MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44 1 1 1.0000 condition_record_support_limited 20 0 0 Peroxisome_biogenesis_disorder_2B 301 compact_adjacent_exon_block_opportunity local_compact_architecture PEX6 mondo_mondo_0008953_medgen_c4721541_omim_214100 Peroxisome biogenesis disorder 1A (Zellweger) MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100 1 1 1.0000 condition_record_support_limited 20 0 1 Peroxisome_biogenesis_disorder_1A_(Zellweger) 301 compact_adjacent_exon_block_opportunity local_compact_architecture PEX6 autosomal_recessive_pex6_related_disorders Autosomal recessive PEX6-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_PEX6-related_disorders 301 compact_adjacent_exon_block_opportunity local_compact_architecture PEX5 mondo_mondo_0019609_medgen_c0043459_orphanet_912 Zellweger spectrum disorders MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912 1 1 1.0000 condition_record_support_limited 20 0 1 Zellweger_spectrum_disorders 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX5 mondo_mondo_0015776_medgen_c0282529_omim_ps215100_orphanet_177 Rhizomelic chondrodysplasia punctata MONDO:MONDO:0015776,MedGen:C0282529,OMIM:PS215100,Orphanet:177 1 1 1.0000 condition_record_support_limited 20 0 1 Rhizomelic_chondrodysplasia_punctata 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX5 mondo_mondo_0100262_medgen_cn305478 Peroxisome biogenesis disorder due to PEX5 defect MONDO:MONDO:0100262,MedGen:CN305478 1 1 1.0000 condition_record_support_limited 20 0 0 Peroxisome_biogenesis_disorder_due_to_PEX5_defect 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX5 mondo_mondo_0013930_medgen_c3553936_omim_614862_orphanet_912 Peroxisome biogenesis disorder 4A (Zellweger) MONDO:MONDO:0013930,MedGen:C3553936,OMIM:614862,Orphanet:912 1 1 1.0000 condition_record_support_limited 20 0 0 Peroxisome_biogenesis_disorder_4A_(Zellweger) 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX5 human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX3 mondo_mondo_0008953_medgen_c4721541_omim_214100 Peroxisome biogenesis disorder 1A (Zellweger) MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100 1 1 1.0000 condition_record_support_limited 20 0 1 Peroxisome_biogenesis_disorder_1A_(Zellweger) 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX3 pex3_related_disorder PEX3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PEX3-related_disorder 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX2 pex2_related_disorder PEX2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PEX2-related_disorder 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX19 mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 Peroxisome biogenesis disorder MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 1 1 1.0000 condition_record_support_limited 20 0 1 Peroxisome_biogenesis_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX19 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX14 mondo_mondo_0013930_medgen_c3553936_omim_614862_orphanet_912 Peroxisome biogenesis disorder 4A (Zellweger) MONDO:MONDO:0013930,MedGen:C3553936,OMIM:614862,Orphanet:912 1 1 1.0000 condition_record_support_limited 20 0 0 Peroxisome_biogenesis_disorder_4A_(Zellweger) 8 low_record_burden_interpretation_limited low_record_burden_gene PEX14 mondo_mondo_0013952_medgen_c3554004_omim_614887_orphanet_912 Peroxisome biogenesis disorder 13A (Zellweger) MONDO:MONDO:0013952,MedGen:C3554004,OMIM:614887,Orphanet:912 1 1 1.0000 condition_record_support_limited 20 0 0 Peroxisome_biogenesis_disorder_13A_(Zellweger) 8 low_record_burden_interpretation_limited low_record_burden_gene PEX13 mondo_mondo_0013930_medgen_c3553936_omim_614862_orphanet_912 Peroxisome biogenesis disorder 4A (Zellweger) MONDO:MONDO:0013930,MedGen:C3553936,OMIM:614862,Orphanet:912 1 1 1.0000 condition_record_support_limited 20 0 0 Peroxisome_biogenesis_disorder_4A_(Zellweger) 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX12 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX11B mondo_mondo_0019234_medgen_c1832200_omim_ps214100_orphanet_79189 Peroxisome biogenesis disorder MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189 1 1 1.0000 condition_record_support_limited 20 0 0 Peroxisome_biogenesis_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene PEX10 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_ataxia 142 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX1 mondo_mondo_0019053_medgen_c0282528_orphanet_68373 Peroxisomal disorder MONDO:MONDO:0019053,MedGen:C0282528,Orphanet:68373 1 1 1.0000 condition_record_support_limited 20 0 1 Peroxisomal_disorder 469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX1 human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 1.0000 condition_record_support_limited 20 0 1 Optic_atrophy 469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX1 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 1 Leber_congenital_amaurosis 469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX1 autosomal_recessive_pex1_related_disorders Autosomal recessive PEX1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_PEX1-related_disorders 469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEX1 human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PET117 mondo_mondo_0033654_medgen_c5436723_omim_619063 Mitochondrial complex IV deficiency, nuclear type 19 MONDO:MONDO:0033654,MedGen:C5436723,OMIM:619063 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_IV_deficiency,_nuclear_type_19 1 low_record_burden_interpretation_limited low_record_burden_gene PET100 pet100_related_disorder PET100-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PET100-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene PET100 human_phenotype_ontology_hp_0004902_medgen_c4025276 Congenital lactic acidosis Human_Phenotype_Ontology:HP:0004902,MedGen:C4025276 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_lactic_acidosis 11 low_record_burden_interpretation_limited low_record_burden_gene PERP condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene PERM1 mondo_mondo_0014052_medgen_c3808739_omim_615120_orphanet_590 Congenital myasthenic syndrome 8 MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_myasthenic_syndrome_8 1 low_record_burden_interpretation_limited low_record_burden_gene PER3 mondo_mondo_0009354_medgen_c1856057_omim_236270_orphanet_2169_orphanet_622 Methylcobalamin deficiency type cblE MONDO:MONDO:0009354,MedGen:C1856057,OMIM:236270,Orphanet:2169,Orphanet:622 1 1 1.0000 condition_record_support_limited 20 0 0 Methylcobalamin_deficiency_type_cblE 3 low_record_burden_interpretation_limited low_record_burden_gene PEPD mondo_mondo_0011246_medgen_c1865233_omim_602541_orphanet_280671 Megaconial type congenital muscular dystrophy MONDO:MONDO:0011246,MedGen:C1865233,OMIM:602541,Orphanet:280671 1 1 1.0000 condition_record_support_limited 20 0 1 Megaconial_type_congenital_muscular_dystrophy 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PEPD human_phenotype_ontology_hp_0012732_mondo_mondo_0007136_medgen_c3495676_omim_107100_orphanet_557 Anorectal anomaly Human_Phenotype_Ontology:HP:0012732,MONDO:MONDO:0007136,MedGen:C3495676,OMIM:107100,Orphanet:557 1 1 1.0000 condition_record_support_limited 20 0 0 Anorectal_anomaly 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDZRN3 mondo_mondo_0957430_medgen_c0036346_orphanet_641496 Childhood-onset schizophrenia MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 1.0000 condition_record_support_limited 20 0 0 Childhood-onset_schizophrenia 3 low_record_burden_interpretation_limited low_record_burden_gene PDZD9 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_disease 7 low_record_burden_interpretation_limited low_record_burden_gene PDZD7 medgen_c3148929 Usher syndrome, type IIC, GPR98/PDZD7 digenic MedGen:C3148929 1 1 1.0000 condition_record_support_limited 20 0 0 Usher_syndrome,_type_IIC,_GPR98/PDZD7_digenic 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDZD7 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_deafness 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDZD7 mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 1.0000 condition_record_support_limited 20 0 1 Nonsyndromic_genetic_hearing_loss 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDZD7 monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 0 Monogenic_hearing_loss 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDZD7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDZD7 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDZD7 human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 1.0000 condition_record_support_limited 20 0 0 Ear_malformation 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDZD7 medgen_c0011053 Deafness MedGen:C0011053 1 1 1.0000 condition_record_support_limited 20 0 1 Deafness 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDZD7 autosomal_recessive_pdzd7_related_disorders Autosomal recessive PDZD7-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_PDZD7-related_disorders 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDXK condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene PDXK pdxk_related_disorder PDXK-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PDXK-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene PDX1 human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Type 2 diabetes mellitus Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 1 1 1.0000 condition_record_support_limited 20 0 1 Type_2_diabetes_mellitus 14 low_record_burden_interpretation_limited low_record_burden_gene PDX1 mondo_mondo_0100164_medgen_c1833104_omim_ps606176_orphanet_99885 Permanent neonatal diabetes mellitus MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885 1 1 1.0000 condition_record_support_limited 20 0 1 Permanent_neonatal_diabetes_mellitus 14 low_record_burden_interpretation_limited low_record_burden_gene PDX1 human_phenotype_ontology_hp_0004904_mondo_mondo_0018911_medgen_c0342276_omim_ps125850_orphanet_552 Maturity-onset diabetes of the young Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552 1 1 1.0000 condition_record_support_limited 20 0 1 Maturity-onset_diabetes_of_the_young 14 low_record_burden_interpretation_limited low_record_burden_gene PDX1 familial_monogenic_diabetes_maturity_onset_diabetes_of_the_young_4_neonatal_diabetes_mellitus Familial Monogenic Diabetes (Maturity Onset Diabetes Of The Young 4)/Neonatal Diabetes Mellitus . 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_Monogenic_Diabetes_(Maturity_Onset_Diabetes_Of_The_Young_4)/Neonatal_Diabetes_Mellitus 14 low_record_burden_interpretation_limited low_record_burden_gene PDX1 medgen_c3837967 Diabetes mellitus type 2, susceptibility to MedGen:C3837967 1 1 1.0000 condition_record_support_limited 20 0 1 Diabetes_mellitus_type_2,_susceptibility_to 14 low_record_burden_interpretation_limited low_record_burden_gene PDK3 mondo_mondo_0010479_medgen_c3806702_omim_300905_orphanet_352675 Charcot-Marie-Tooth disease X-linked dominant 6 MONDO:MONDO:0010479,MedGen:C3806702,OMIM:300905,Orphanet:352675 1 1 1.0000 condition_record_support_limited 20 0 0 Charcot-Marie-Tooth_disease_X-linked_dominant_6 1 low_record_burden_interpretation_limited low_record_burden_gene PDIA6 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 1 low_record_burden_interpretation_limited low_record_burden_gene PDHX mondo_mondo_0010717_medgen_c1839413_omim_312170_orphanet_79243 Pyruvate dehydrogenase E1-alpha deficiency MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243 1 1 1.0000 condition_record_support_limited 20 0 0 Pyruvate_dehydrogenase_E1-alpha_deficiency 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDHX mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_disease 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDHA2 mondo_mondo_0030733_medgen_c5676962_omim_619828 Spermatogenic failure 70 MONDO:MONDO:0030733,MedGen:C5676962,OMIM:619828 1 1 1.0000 condition_record_support_limited 20 0 1 Spermatogenic_failure_70 1 low_record_burden_interpretation_limited low_record_burden_gene PDHA2 mondo_mondo_0009776_medgen_c0403810_omim_258150 Oligosynaptic infertility MONDO:MONDO:0009776,MedGen:C0403810,OMIM:258150 1 1 1.0000 condition_record_support_limited 20 0 1 Oligosynaptic_infertility 1 low_record_burden_interpretation_limited low_record_burden_gene PDHA2 human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Azoospermia Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 1.0000 condition_record_support_limited 20 0 1 Azoospermia 1 low_record_burden_interpretation_limited low_record_burden_gene PDHA1 efo_the_experimental_factor_ontology_efo_0005303_mesh_d013398_medgen_c0038644_omim_272120 SUDDEN INFANT DEATH SYNDROME EFO:_The_Experimental_Factor_Ontology:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120 1 1 1.0000 condition_record_support_limited 20 0 1 SUDDEN_INFANT_DEATH_SYNDROME 395 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDHA1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 395 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDHA1 human_phenotype_ontology_hp_0012103_medgen_c4023042 Abnormality of the mitochondrion Human_Phenotype_Ontology:HP:0012103,MedGen:C4023042 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_mitochondrion 395 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDGFRL mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 1 1 1.0000 condition_record_support_limited 20 0 0 Carcinoma_of_colon 1 low_record_burden_interpretation_limited low_record_burden_gene PDGFRB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDGFB pdgfb_related_disorder PDGFB-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PDGFB-related_disorder 25 compact_adjacent_exon_block_opportunity local_compact_architecture PDGFB human_phenotype_ontology_hp_0002858_human_phenotype_ontology_hp_0006754_mondo_mondo_0016642_medgen_c0025286_orphanet_2495 Meningioma Human_Phenotype_Ontology:HP:0002858,Human_Phenotype_Ontology:HP:0006754,MONDO:MONDO:0016642,MedGen:C0025286,Orphanet:2495 1 1 1.0000 condition_record_support_limited 20 0 0 Meningioma 25 compact_adjacent_exon_block_opportunity local_compact_architecture PDE8B mondo_mondo_0013616_medgen_c3280094_omim_614190_orphanet_189439 Pigmented nodular adrenocortical disease, primary, 3 MONDO:MONDO:0013616,MedGen:C3280094,OMIM:614190,Orphanet:189439 1 1 1.0000 condition_record_support_limited 20 0 0 Pigmented_nodular_adrenocortical_disease,_primary,_3 11 low_record_burden_interpretation_limited low_record_burden_gene PDE8B pde8b_related_disorders PDE8B-Related Disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 PDE8B-Related_Disorders 11 low_record_burden_interpretation_limited low_record_burden_gene PDE8B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene PDE6G mondo_mondo_0013315_medgen_c3150821_omim_613582_orphanet_791 Retinitis pigmentosa 57 MONDO:MONDO:0013315,MedGen:C3150821,OMIM:613582,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa_57 4 low_record_burden_interpretation_limited low_record_burden_gene PDE6G human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 4 low_record_burden_interpretation_limited low_record_burden_gene PDE6G human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 4 low_record_burden_interpretation_limited low_record_burden_gene PDE6C mondo_mondo_0957048_medgen_c5681367_orphanet_519302 Isolated macular dystrophy MONDO:MONDO:0957048,MedGen:C5681367,Orphanet:519302 1 1 1.0000 condition_record_support_limited 20 0 0 Isolated_macular_dystrophy 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6C human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_eye 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6B mondo_mondo_0008746_medgen_c0268495_omim_203200_orphanet_79432 Tyrosinase-positive oculocutaneous albinism MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432 1 1 1.0000 condition_record_support_limited 20 0 1 Tyrosinase-positive_oculocutaneous_albinism 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6B human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Rod-cone dystrophy Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 1 1 1.0000 condition_record_support_limited 20 0 1 Rod-cone_dystrophy 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6B medgen_c0271092 Progressive cone dystrophy (without rod involvement) MedGen:C0271092 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_cone_dystrophy_(without_rod_involvement) 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6B mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 1 Leber_congenital_amaurosis 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6B congenital_stationary_night_blindness_dominant Congenital Stationary Night Blindness, Dominant . 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_Stationary_Night_Blindness,_Dominant 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6B human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6A pde6a_related_disorder PDE6A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 PDE6A-related_disorder 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6A mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 0 Leber_congenital_amaurosis 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE6A medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_retinitis_pigmentosa 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE4D mondo_mondo_0009592_medgen_c1855243_omim_250215_orphanet_1240 Metaphyseal acroscyphodysplasia MONDO:MONDO:0009592,MedGen:C1855243,OMIM:250215,Orphanet:1240 1 1 1.0000 condition_record_support_limited 20 0 0 Metaphyseal_acroscyphodysplasia 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE3B mondo_mondo_0009924_medgen_c0268689_orphanet_289157 Vitamin D-dependent rickets, type 1 MONDO:MONDO:0009924,MedGen:C0268689,Orphanet:289157 1 1 1.0000 condition_record_support_limited 20 0 1 Vitamin_D-dependent_rickets,_type_1 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE3B hypophosphataemia_or_rickets Hypophosphataemia or rickets . 1 1 1.0000 condition_record_support_limited 20 0 1 Hypophosphataemia_or_rickets 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDE3A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 9 low_record_burden_interpretation_limited low_record_burden_gene PDE2A human_phenotype_ontology_hp_0002268_human_phenotype_ontology_hp_0002412_mondo_mondo_0016058_medgen_c0393588_orphanet_200037 Paroxysmal dystonia Human_Phenotype_Ontology:HP:0002268,Human_Phenotype_Ontology:HP:0002412,MONDO:MONDO:0016058,MedGen:C0393588,Orphanet:200037 1 1 1.0000 condition_record_support_limited 20 0 1 Paroxysmal_dystonia 9 low_record_burden_interpretation_limited low_record_burden_gene PDE2A human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Moderate intellectual disability Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 1 1 1.0000 condition_record_support_limited 20 0 1 Moderate_intellectual_disability 9 low_record_burden_interpretation_limited low_record_burden_gene PDE2A human_phenotype_ontology_hp_0025373_medgen_c4476738 Interictal EEG abnormality Human_Phenotype_Ontology:HP:0025373,MedGen:C4476738 1 1 1.0000 condition_record_support_limited 20 0 1 Interictal_EEG_abnormality 9 low_record_burden_interpretation_limited low_record_burden_gene PDE2A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 9 low_record_burden_interpretation_limited low_record_burden_gene PDE2A human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 9 low_record_burden_interpretation_limited low_record_burden_gene PDE2A human_phenotype_ontology_hp_0001346_human_phenotype_ontology_hp_0002353_human_phenotype_ontology_hp_0002429_human_phenotype_ontology_hp_0006841_medgen_c0151611 EEG abnormality Human_Phenotype_Ontology:HP:0001346,Human_Phenotype_Ontology:HP:0002353,Human_Phenotype_Ontology:HP:0002429,Human_Phenotype_Ontology:HP:0006841,MedGen:C0151611 1 1 1.0000 condition_record_support_limited 20 0 1 EEG_abnormality 9 low_record_burden_interpretation_limited low_record_burden_gene PDE2A human_phenotype_ontology_hp_0002072_human_phenotype_ontology_hp_0002397_mondo_mondo_0001595_medgen_c0008489_orphanet_1429 Chorea Human_Phenotype_Ontology:HP:0002072,Human_Phenotype_Ontology:HP:0002397,MONDO:MONDO:0001595,MedGen:C0008489,Orphanet:1429 1 1 1.0000 condition_record_support_limited 20 0 1 Chorea 9 low_record_burden_interpretation_limited low_record_burden_gene PDE1C mondo_mondo_0019587_medgen_c5779548_omim_ps124900_orphanet_90635 Autosomal dominant nonsyndromic hearing loss MONDO:MONDO:0019587,MedGen:C5779548,OMIM:PS124900,Orphanet:90635 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_nonsyndromic_hearing_loss 4 low_record_burden_interpretation_limited low_record_burden_gene PDE10A human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 11 low_record_burden_interpretation_limited low_record_burden_gene PDE10A human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 11 low_record_burden_interpretation_limited low_record_burden_gene PDCL2 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility 1 low_record_burden_interpretation_limited low_record_burden_gene PDCD6IP mondo_mondo_0031060_medgen_c5774220_omim_620047 Microcephaly 29, primary, autosomal recessive MONDO:MONDO:0031060,MedGen:C5774220,OMIM:620047 1 1 1.0000 condition_record_support_limited 20 0 0 Microcephaly_29,_primary,_autosomal_recessive 1 low_record_burden_interpretation_limited low_record_burden_gene PDCD10 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDCD10 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDCD10 mondo_mondo_0031037_medgen_c2931263_omim_ps116860_orphanet_221061 Hereditary cavernous hemangioma of brain MONDO:MONDO:0031037,MedGen:C2931263,OMIM:PS116860,Orphanet:221061 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cavernous_hemangioma_of_brain 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDCD10 human_phenotype_ontology_hp_0001269_medgen_c0018989 Hemiparesis Human_Phenotype_Ontology:HP:0001269,MedGen:C0018989 1 1 1.0000 condition_record_support_limited 20 0 1 Hemiparesis 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDCD10 mondo_mondo_0020724_medgen_c1366911 Cerebral cavernous malformation 1 MONDO:MONDO:0020724,MedGen:C1366911 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_cavernous_malformation_1 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDCD10 human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Cerebral arteriovenous malformation Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_arteriovenous_malformation 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PDCD10 human_phenotype_ontology_hp_0001048_mondo_mondo_0003155_medgen_c0018920 Cavernous hemangioma Human_Phenotype_Ontology:HP:0001048,MONDO:MONDO:0003155,MedGen:C0018920 1 1 1.0000 condition_record_support_limited 20 0 1 Cavernous_hemangioma 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCYT1A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 14 low_record_burden_interpretation_limited low_record_burden_gene PCSK9 pcsk9_related_disorder PCSK9-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PCSK9-related_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene PCSK1 human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 1.0000 condition_record_support_limited 20 0 0 Obesity 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCSK1 medgen_c4013980 Early onset severe obesity MedGen:C4013980 1 1 1.0000 condition_record_support_limited 20 0 0 Early_onset_severe_obesity 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCNX3 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 1 low_record_burden_interpretation_limited low_record_burden_gene PCNA mondo_mondo_0014399_medgen_c4014676_omim_615919_orphanet_438134 Ataxia-telangiectasia-like disorder 2 MONDO:MONDO:0014399,MedGen:C4014676,OMIM:615919,Orphanet:438134 1 1 1.0000 condition_record_support_limited 20 0 0 Ataxia-telangiectasia-like_disorder_2 1 low_record_burden_interpretation_limited low_record_burden_gene PCLO pclo_related_disorder PCLO-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PCLO-related_disorder 73 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PCK1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene PCK1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 5 low_record_burden_interpretation_limited low_record_burden_gene PCGF2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 3 low_record_burden_interpretation_limited low_record_burden_gene PCGF2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 3 low_record_burden_interpretation_limited low_record_burden_gene PCGF2 human_phenotype_ontology_hp_0000356_human_phenotype_ontology_hp_0001752_medgen_c1846460 Abnormality of the outer ear Human_Phenotype_Ontology:HP:0000356,Human_Phenotype_Ontology:HP:0001752,MedGen:C1846460 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_outer_ear 3 low_record_burden_interpretation_limited low_record_burden_gene PCDHGC4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene PCDHGC3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene PCDHGB7 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene PCDHGB6 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene PCDHGB5 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene PCDHGB4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene PCDHGB3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene PCDHGB2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene PCDHGA8 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene PCDHGA12 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene PCDH19 developmental_delay_with_seizures developmental delay with seizures . 1 1 1.0000 condition_record_support_limited 20 0 1 developmental_delay_with_seizures 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH19 human_phenotype_ontology_hp_0007112_medgen_c4024936 Temporal cortical atrophy Human_Phenotype_Ontology:HP:0007112,MedGen:C4024936 1 1 1.0000 condition_record_support_limited 20 0 1 Temporal_cortical_atrophy 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH19 human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 1.0000 condition_record_support_limited 20 0 1 Strabismus 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH19 refractory_epilepsy_with_lennox_gastaut_syndrome Refractory epilepsy with Lennox Gastaut syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 Refractory_epilepsy_with_Lennox_Gastaut_syndrome 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH19 human_phenotype_ontology_hp_0001212_human_phenotype_ontology_hp_0001235_medgen_c1835807 Prominent fingertip pads Human_Phenotype_Ontology:HP:0001212,Human_Phenotype_Ontology:HP:0001235,MedGen:C1835807 1 1 1.0000 condition_record_support_limited 20 0 1 Prominent_fingertip_pads 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH19 pcdh19_related_epilespy PCDH19-related epilespy . 1 1 1.0000 condition_record_support_limited 20 0 0 PCDH19-related_epilespy 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH19 pcdh19_related_epilepsy_syndrome PCDH19-related epilepsy syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 PCDH19-related_epilepsy_syndrome 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH19 pcdh19_related_epilepsy PCDH19-related epilepsy . 1 1 1.0000 condition_record_support_limited 20 0 1 PCDH19-related_epilepsy 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH19 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH19 human_phenotype_ontology_hp_0000637_human_phenotype_ontology_hp_0007904_medgen_c1849340 Long palpebral fissure Human_Phenotype_Ontology:HP:0000637,Human_Phenotype_Ontology:HP:0007904,MedGen:C1849340 1 1 1.0000 condition_record_support_limited 20 0 1 Long_palpebral_fissure 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH19 human_phenotype_ontology_hp_0002378_medgen_c0239842 Hand tremor Human_Phenotype_Ontology:HP:0002378,MedGen:C0239842 1 1 1.0000 condition_record_support_limited 20 0 1 Hand_tremor 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH19 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH19 human_phenotype_ontology_hp_0002197_human_phenotype_ontology_hp_0002409_human_phenotype_ontology_hp_0007114_human_phenotype_ontology_hp_0007339_medgen_c0234533 Generalized-onset seizure Human_Phenotype_Ontology:HP:0002197,Human_Phenotype_Ontology:HP:0002409,Human_Phenotype_Ontology:HP:0007114,Human_Phenotype_Ontology:HP:0007339,MedGen:C0234533 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized-onset_seizure 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH19 human_phenotype_ontology_hp_0002121_human_phenotype_ontology_hp_0007143_human_phenotype_ontology_hp_0011148_medgen_c4316903 Generalized non-motor (absence) seizure Human_Phenotype_Ontology:HP:0002121,Human_Phenotype_Ontology:HP:0007143,Human_Phenotype_Ontology:HP:0011148,MedGen:C4316903 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_non-motor_(absence)_seizure 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH19 human_phenotype_ontology_hp_0006913_medgen_c4024965 Frontal cortical atrophy Human_Phenotype_Ontology:HP:0006913,MedGen:C4024965 1 1 1.0000 condition_record_support_limited 20 0 1 Frontal_cortical_atrophy 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH19 human_phenotype_ontology_hp_0002358_human_phenotype_ontology_hp_0007359_medgen_c0751495 Focal-onset seizure Human_Phenotype_Ontology:HP:0002358,Human_Phenotype_Ontology:HP:0007359,MedGen:C0751495 1 1 1.0000 condition_record_support_limited 20 0 1 Focal-onset_seizure 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH19 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 0 Epileptic_encephalopathy 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH19 mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH19 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH19 human_phenotype_ontology_hp_0011172_medgen_c0751057 Complex febrile seizure Human_Phenotype_Ontology:HP:0011172,MedGen:C0751057 1 1 1.0000 condition_record_support_limited 20 0 0 Complex_febrile_seizure 433 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH15 mondo_mondo_0011748_medgen_c1847089_omim_606943_orphanet_231169_orphanet_886 Usher syndrome type 1G MONDO:MONDO:0011748,MedGen:C1847089,OMIM:606943,Orphanet:231169,Orphanet:886 1 1 1.0000 condition_record_support_limited 20 0 1 Usher_syndrome_type_1G 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PCDH15 medgen_c3276419 USHER SYNDROME, TYPE ID/F, DIGENIC MedGen:C3276419 1 1 1.0000 condition_record_support_limited 20 0 1 USHER_SYNDROME,_TYPE_ID/F,_DIGENIC 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PCDH15 medgen_c0271092 Progressive cone dystrophy (without rod involvement) MedGen:C0271092 1 1 1.0000 condition_record_support_limited 20 0 0 Progressive_cone_dystrophy_(without_rod_involvement) 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PCDH15 human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 1.0000 condition_record_support_limited 20 0 0 Ear_malformation 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PCDH15 childhood_onset_hearing_loss Childhood onset hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Childhood_onset_hearing_loss 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture PCDH12 human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 1.0000 condition_record_support_limited 20 0 1 Dystonic_disorder 31 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH12 mondo_mondo_0010269_medgen_c5964756_omim_300216_orphanet_190 Coats disease MONDO:MONDO:0010269,MedGen:C5964756,OMIM:300216,Orphanet:190 1 1 1.0000 condition_record_support_limited 20 0 1 Coats_disease 31 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH12 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 31 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH12 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 31 compact_adjacent_exon_block_opportunity local_compact_architecture PCDH1 human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Esophageal atresia/tracheoesophageal fistula Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 1.0000 condition_record_support_limited 20 0 0 Esophageal_atresia/tracheoesophageal_fistula 1 low_record_burden_interpretation_limited low_record_burden_gene PCCB human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCCA mondo_mondo_0013438_medgen_c3151140_omim_613811_orphanet_247198_orphanet_2524 Pontocerebellar hypoplasia type 2D MONDO:MONDO:0013438,MedGen:C3151140,OMIM:613811,Orphanet:247198,Orphanet:2524 1 1 1.0000 condition_record_support_limited 20 0 1 Pontocerebellar_hypoplasia_type_2D 298 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PCBP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 1 low_record_burden_interpretation_limited low_record_burden_gene PCARE mondo_mondo_0019353_medgen_c0271093_omim_ps248200_orphanet_827 Stargardt disease MONDO:MONDO:0019353,MedGen:C0271093,OMIM:PS248200,Orphanet:827 1 1 1.0000 condition_record_support_limited 20 0 1 Stargardt_disease 151 compact_adjacent_exon_block_opportunity local_compact_architecture PCARE retinitis_pigmentosa_with_macular_involvement Retinitis pigmentosa with macular involvement . 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa_with_macular_involvement 151 compact_adjacent_exon_block_opportunity local_compact_architecture PCARE human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 151 compact_adjacent_exon_block_opportunity local_compact_architecture PCARE mondo_mondo_0800404_medgen_cn322610 PCARE-related retinopathy MONDO:MONDO:0800404,MedGen:CN322610 1 1 1.0000 condition_record_support_limited 20 0 1 PCARE-related_retinopathy 151 compact_adjacent_exon_block_opportunity local_compact_architecture PC mondo_mondo_0012860_medgen_c2676759_omim_612304_orphanet_745 Thrombophilia due to protein C deficiency, autosomal recessive MONDO:MONDO:0012860,MedGen:C2676759,OMIM:612304,Orphanet:745 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombophilia_due_to_protein_C_deficiency,_autosomal_recessive 180 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PC mondo_mondo_0008316_medgen_c2674321_omim_176860_orphanet_745 Thrombophilia due to protein C deficiency, autosomal dominant MONDO:MONDO:0008316,MedGen:C2674321,OMIM:176860,Orphanet:745 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombophilia_due_to_protein_C_deficiency,_autosomal_dominant 180 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PC human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 180 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PC human_phenotype_ontology_hp_0004902_medgen_c4025276 Congenital lactic acidosis Human_Phenotype_Ontology:HP:0004902,MedGen:C4025276 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_lactic_acidosis 180 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PBX1 pbx1_related_intellectual_disability_and_pleiotropic_developmental_defects PBX1-related intellectual disability and pleiotropic developmental defects . 1 1 1.0000 condition_record_support_limited 20 0 1 PBX1-related_intellectual_disability_and_pleiotropic_developmental_defects 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PBX1 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PBRM1 human_phenotype_ontology_hp_0006770_mondo_mondo_0005005_medgen_c0279702_orphanet_319276 Clear cell carcinoma of kidney Human_Phenotype_Ontology:HP:0006770,MONDO:MONDO:0005005,MedGen:C0279702,Orphanet:319276 1 1 1.0000 condition_record_support_limited 20 0 0 Clear_cell_carcinoma_of_kidney 1 low_record_burden_interpretation_limited low_record_burden_gene PAX9 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX7 human_phenotype_ontology_hp_0006779_mondo_mondo_0009994_medgen_c0206655_omim_268220_orphanet_780_orphanet_99756 Alveolar rhabdomyosarcoma Human_Phenotype_Ontology:HP:0006779,MONDO:MONDO:0009994,MedGen:C0206655,OMIM:268220,Orphanet:780,Orphanet:99756 1 1 1.0000 condition_record_support_limited 20 0 1 Alveolar_rhabdomyosarcoma 5 low_record_burden_interpretation_limited low_record_burden_gene PAX6 human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Visual impairment Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 1.0000 condition_record_support_limited 20 0 1 Visual_impairment 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 mondo_mondo_0800183_medgen_cn322461 PAX6-related ocular dysgenesis MONDO:MONDO:0800183,MedGen:CN322461 1 1 1.0000 condition_record_support_limited 20 0 1 PAX6-related_ocular_dysgenesis 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 medgen_c1833798 Optic nerve aplasia, bilateral MedGen:C1833798 1 1 1.0000 condition_record_support_limited 20 0 0 Optic_nerve_aplasia,_bilateral 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 1.0000 condition_record_support_limited 20 0 1 Nystagmus 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Microphthalmia Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 1 1 1.0000 condition_record_support_limited 20 0 1 Microphthalmia 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 mondo_mondo_0016764_medgen_c5679828_orphanet_2542 Isolated anophthalmia-microphthalmia syndrome MONDO:MONDO:0016764,MedGen:C5679828,Orphanet:2542 1 1 1.0000 condition_record_support_limited 20 0 1 Isolated_anophthalmia-microphthalmia_syndrome 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Hypertelorism Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertelorism 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 medgen_c4017657 Foveal hypoplasia 1 with or without anterior segment anomalies MedGen:C4017657 1 1 1.0000 condition_record_support_limited 20 0 1 Foveal_hypoplasia_1_with_or_without_anterior_segment_anomalies 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 medgen_c4017067 Foveal hypoplasia 1 with cataract MedGen:C4017067 1 1 1.0000 condition_record_support_limited 20 0 1 Foveal_hypoplasia_1_with_cataract 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 medgen_c3805349 Cataracts, congenital, with late-onset corneal dystrophy MedGen:C3805349 1 1 1.0000 condition_record_support_limited 20 0 1 Cataracts,_congenital,_with_late-onset_corneal_dystrophy 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 human_phenotype_ontology_hp_0007696_human_phenotype_ontology_hp_0007699_human_phenotype_ontology_hp_0007700_human_phenotype_ontology_hp_0008040_mondo_mondo_0019503_medgen_c1862839_omim_ps107250_orphanet_88632 Anterior segment dysgenesis Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632 1 1 1.0000 condition_record_support_limited 20 0 1 Anterior_segment_dysgenesis 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 medgen_c4017066 Aniridia, atypical MedGen:C4017066 1 1 1.0000 condition_record_support_limited 20 0 1 Aniridia,_atypical 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 albinism_or_congenital_nystagmus Albinism or congenital nystagmus . 1 1 1.0000 condition_record_support_limited 20 0 1 Albinism_or_congenital_nystagmus 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 anterior_segment_dysgenesis_5_peters_anomaly_subtype ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE . 1 1 1.0000 condition_record_support_limited 20 0 1 ANTERIOR_SEGMENT_DYSGENESIS_5,_PETERS_ANOMALY_SUBTYPE 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX6 medgen_c4310884 ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES MedGen:C4310884 1 1 1.0000 condition_record_support_limited 20 0 1 ANTERIOR_SEGMENT_DYSGENESIS_5,_MULTIPLE_SUBTYPES 429 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX3 ocular_albinism_with_congenital_sensorineural_hearing_loss Ocular albinism with congenital sensorineural hearing loss MedGen:CN028925 1 1 1.0000 condition_record_support_limited 20 0 0 Ocular_albinism_with_congenital_sensorineural_hearing_loss 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX3 monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX2 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX2 human_phenotype_ontology_hp_0000089_human_phenotype_ontology_hp_0001968_human_phenotype_ontology_hp_0004741_human_phenotype_ontology_hp_0008641_mondo_mondo_0019637_medgen_c0266295_orphanet_93101 Renal hypoplasia Human_Phenotype_Ontology:HP:0000089,Human_Phenotype_Ontology:HP:0001968,Human_Phenotype_Ontology:HP:0004741,Human_Phenotype_Ontology:HP:0008641,MONDO:MONDO:0019637,MedGen:C0266295,Orphanet:93101 1 1 1.0000 condition_record_support_limited 20 0 0 Renal_hypoplasia 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX2 human_phenotype_ontology_hp_0000088_human_phenotype_ontology_hp_0000107_human_phenotype_ontology_hp_0000109_mondo_mondo_0002473_medgen_c3887499 Renal cyst Human_Phenotype_Ontology:HP:0000088,Human_Phenotype_Ontology:HP:0000107,Human_Phenotype_Ontology:HP:0000109,MONDO:MONDO:0002473,MedGen:C3887499 1 1 1.0000 condition_record_support_limited 20 0 0 Renal_cyst 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX2 medgen_c4016304 Papillorenal syndrome with macular abnormalities MedGen:C4016304 1 1 1.0000 condition_record_support_limited 20 0 0 Papillorenal_syndrome_with_macular_abnormalities 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX2 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX2 human_phenotype_ontology_hp_0000096_human_phenotype_ontology_hp_0030761_mondo_mondo_0000490_medgen_c0178664 Glomerular sclerosis Human_Phenotype_Ontology:HP:0000096,Human_Phenotype_Ontology:HP:0030761,MONDO:MONDO:0000490,MedGen:C0178664 1 1 1.0000 condition_record_support_limited 20 0 1 Glomerular_sclerosis 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX2 human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Congenital ocular coloboma Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_ocular_coloboma 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX2 mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_anomaly_of_kidney_and_urinary_tract 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAX1 pax1_related_disorder PAX1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 PAX1-related_disorder 23 compact_adjacent_exon_block_opportunity local_compact_architecture PAX1 mondo_mondo_0015397_medgen_c0265240_omim_ps164210_orphanet_141132 Craniofacial microsomia MONDO:MONDO:0015397,MedGen:C0265240,OMIM:PS164210,Orphanet:141132 1 1 1.0000 condition_record_support_limited 20 0 0 Craniofacial_microsomia 23 compact_adjacent_exon_block_opportunity local_compact_architecture PATL2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene PATL2 mondo_mondo_0021573_medgen_c4225210_omim_616780 Oocyte maturation defect 2 MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780 1 1 1.0000 condition_record_support_limited 20 0 1 Oocyte_maturation_defect_2 14 low_record_burden_interpretation_limited low_record_burden_gene PARS2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 7 low_record_burden_interpretation_limited low_record_burden_gene PARP10 medgen_c0424605 Developmental delay MedGen:C0424605 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene PARN parn_related_disorder PARN-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PARN-related_disorder 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PARN mondo_mondo_0015780_medgen_c0265965_omim_ps127550_orphanet_1775 Dyskeratosis congenita MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775 1 1 1.0000 condition_record_support_limited 20 0 1 Dyskeratosis_congenita 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PARK7 mondo_mondo_0017279_medgen_c4275179_orphanet_2828 Young-onset Parkinson disease MONDO:MONDO:0017279,MedGen:C4275179,Orphanet:2828 1 1 1.0000 condition_record_support_limited 20 0 0 Young-onset_Parkinson_disease 16 low_record_burden_interpretation_limited low_record_burden_gene PARK7 parkinson_disease_autosomal_recessive_early_onset_digenic_pink1_dj1 Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 MedGen:CN043330 1 1 1.0000 condition_record_support_limited 20 0 0 Parkinson_disease,_autosomal_recessive_early-onset,_digenic,_PINK1/DJ1 16 low_record_burden_interpretation_limited low_record_burden_gene PARK7 mondo_mondo_0007104_medgen_c0543859_omim_105500_orphanet_90020 Amyotrophic lateral sclerosis-parkinsonism-dementia complex MONDO:MONDO:0007104,MedGen:C0543859,OMIM:105500,Orphanet:90020 1 1 1.0000 condition_record_support_limited 20 0 0 Amyotrophic_lateral_sclerosis-parkinsonism-dementia_complex 16 low_record_burden_interpretation_limited low_record_burden_gene PARD3B mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene PAPSS2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAPSS2 mondo_mondo_0015262_medgen_c0432228_orphanet_1293 Brachyolmia MONDO:MONDO:0015262,MedGen:C0432228,Orphanet:1293 1 1 1.0000 condition_record_support_limited 20 0 1 Brachyolmia 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAPSS2 mondo_mondo_0018662_medgen_c4760908_orphanet_448242 Autosomal recessive brachyolmia MONDO:MONDO:0018662,MedGen:C4760908,Orphanet:448242 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_brachyolmia 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PANK4 mondo_mondo_0030465_medgen_c5562010_omim_619593 Cataract 49 MONDO:MONDO:0030465,MedGen:C5562010,OMIM:619593 1 1 1.0000 condition_record_support_limited 20 0 0 Cataract_49 1 low_record_burden_interpretation_limited low_record_burden_gene PANK2 mondo_mondo_0013364_medgen_c3150941_omim_613684_orphanet_353284_orphanet_783 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783 1 1 1.0000 condition_record_support_limited 20 0 1 Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PANK2 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PANK2 human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 1.0000 condition_record_support_limited 20 0 1 Dystonic_disorder 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PANK2 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PALS1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene PALS1 human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_palsy 1 low_record_burden_interpretation_limited low_record_burden_gene PALS1 human_phenotype_ontology_hp_0100702_mondo_mondo_0008813_medgen_c0078981_orphanet_2356 Arachnoid cyst Human_Phenotype_Ontology:HP:0100702,MONDO:MONDO:0008813,MedGen:C0078981,Orphanet:2356 1 1 1.0000 condition_record_support_limited 20 0 1 Arachnoid_cyst 1 low_record_burden_interpretation_limited low_record_burden_gene PALS1 human_phenotype_ontology_hp_0000739_mondo_mondo_0011918_medgen_c0003467_omim_607834 Anxiety Human_Phenotype_Ontology:HP:0000739,MONDO:MONDO:0011918,MedGen:C0003467,OMIM:607834 1 1 1.0000 condition_record_support_limited 20 0 1 Anxiety 1 low_record_burden_interpretation_limited low_record_burden_gene PALS1 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 1 low_record_burden_interpretation_limited low_record_burden_gene PALB2 mondo_mondo_0006003_medgen_cn277893 Uterine corpus cancer MONDO:MONDO:0006003,MedGen:CN277893 1 1 1.0000 condition_record_support_limited 20 0 1 Uterine_corpus_cancer 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PALB2 mondo_mondo_0014030_medgen_c3540844_omim_615067_orphanet_244 Primary ciliary dyskinesia 20 MONDO:MONDO:0014030,MedGen:C3540844,OMIM:615067,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_ciliary_dyskinesia_20 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PALB2 human_phenotype_ontology_hp_0004812_mondo_mondo_0020511_medgen_c0349636_orphanet_99860 Precursor B-cell acute lymphoblastic leukemia Human_Phenotype_Ontology:HP:0004812,MONDO:MONDO:0020511,MedGen:C0349636,Orphanet:99860 1 1 1.0000 condition_record_support_limited 20 0 1 Precursor_B-cell_acute_lymphoblastic_leukemia 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PALB2 human_phenotype_ontology_hp_0025318_mondo_mondo_0005140_medgen_c4721610 Ovarian carcinoma Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610 1 1 1.0000 condition_record_support_limited 20 0 1 Ovarian_carcinoma 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PALB2 mondo_mondo_0019954_medgen_c1337011_orphanet_97253 Neuroendocrine tumor of pancreas MONDO:MONDO:0019954,MedGen:C1337011,Orphanet:97253 1 1 1.0000 condition_record_support_limited 20 0 1 Neuroendocrine_tumor_of_pancreas 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PALB2 human_phenotype_ontology_hp_0010784_mondo_mondo_0021353_medgen_c0042138 Neoplasm of uterus Human_Phenotype_Ontology:HP:0010784,MONDO:MONDO:0021353,MedGen:C0042138 1 1 1.0000 condition_record_support_limited 20 0 1 Neoplasm_of_uterus 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PALB2 nice_approved_parp_inhibitor_treatment NICE approved PARP inhibitor treatment . 1 1 1.0000 condition_record_support_limited 20 0 1 NICE_approved_PARP_inhibitor_treatment 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PALB2 mondo_mondo_0008903_medgen_c0242379_omim_211980 Lung cancer MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 1 1 1.0000 condition_record_support_limited 20 0 1 Lung_cancer 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PALB2 medgen_c1333600 Hereditary cancer MedGen:C1333600 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PALB2 human_phenotype_ontology_hp_0000984_human_phenotype_ontology_hp_0007419_human_phenotype_ontology_hp_0007513_medgen_c1849923 Generalized hypopigmentation Human_Phenotype_Ontology:HP:0000984,Human_Phenotype_Ontology:HP:0007419,Human_Phenotype_Ontology:HP:0007513,MedGen:C1849923 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypopigmentation 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PALB2 mondo_mondo_0019391_mesh_d005199_medgen_c0015625_omim_ps227650_orphanet_84 Fanconi anemia MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84 1 1 1.0000 condition_record_support_limited 20 0 1 Fanconi_anemia 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PALB2 human_phenotype_ontology_hp_0032317_medgen_c0260515 Family history of cancer Human_Phenotype_Ontology:HP:0032317,MedGen:C0260515 1 1 1.0000 condition_record_support_limited 20 0 1 Family_history_of_cancer 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PALB2 mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 Familial prostate cancer MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_prostate_cancer 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PALB2 mondo_mondo_0015278_medgen_c2931038_omim_260350_orphanet_1333 Familial pancreatic carcinoma MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_pancreatic_carcinoma 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PALB2 human_phenotype_ontology_hp_0100273_mondo_mondo_0005401_mesh_d003110_medgen_c0009375 Colonic neoplasm Human_Phenotype_Ontology:HP:0100273,MONDO:MONDO:0005401,MeSH:D003110,MedGen:C0009375 1 1 1.0000 condition_record_support_limited 20 0 1 Colonic_neoplasm 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PALB2 mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 Carcinoma of pancreas MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 1 1 1.0000 condition_record_support_limited 20 0 1 Carcinoma_of_pancreas 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PALB2 mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 1 1 1.0000 condition_record_support_limited 20 0 1 Carcinoma_of_colon 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PALB2 mondo_mondo_0020804_mesh_d002280_medgen_c0007117 Basal cell carcinoma MONDO:MONDO:0020804,MeSH:D002280,MedGen:C0007117 1 1 1.0000 condition_record_support_limited 20 0 1 Basal_cell_carcinoma 1420 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control PAK6 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene PAK6 mondo_mondo_0009759_medgen_c1850343_omim_257300_orphanet_1052 Mosaic variegated aneuploidy syndrome 1 MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300,Orphanet:1052 1 1 1.0000 condition_record_support_limited 20 0 1 Mosaic_variegated_aneuploidy_syndrome_1 1 low_record_burden_interpretation_limited low_record_burden_gene PAK3 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAK3 medgen_c2711754 History of neurodevelopmental disorder MedGen:C2711754 1 1 1.0000 condition_record_support_limited 20 0 0 History_of_neurodevelopmental_disorder 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAK2 mondo_mondo_0800166_medgen_c1849409_omim_ps267750_orphanet_1571 Knobloch syndrome MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571 1 1 1.0000 condition_record_support_limited 20 0 0 Knobloch_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene PAK1 pak1_related_neurodevelopmental_disorders PAK1-related neurodevelopmental disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 PAK1-related_neurodevelopmental_disorders 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAK1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAH mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 1 1 1.0000 condition_record_support_limited 20 0 1 RASopathy 886 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAH human_phenotype_ontology_hp_0003571_mondo_mondo_0011628_medgen_c0268579_omim_606054_orphanet_35 Propionic acidemia Human_Phenotype_Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35 1 1 1.0000 condition_record_support_limited 20 0 1 Propionic_acidemia 886 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAH mondo_mondo_0009878_medgen_c0878683_omim_262600 Pituitary hormone deficiency, combined, 2 MONDO:MONDO:0009878,MedGen:C0878683,OMIM:262600 1 1 1.0000 condition_record_support_limited 20 0 1 Pituitary_hormone_deficiency,_combined,_2 886 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAH marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 1 1 1.0000 condition_record_support_limited 20 0 1 Marfanoid_habitus_and_intellectual_disability 886 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAH mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 1 1 1.0000 condition_record_support_limited 20 0 1 Malignant_tumor_of_breast 886 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAH human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 886 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAGR1 mondo_mondo_0011178_medgen_c1865926_omim_602066_orphanet_31709 Infantile convulsions and choreoathetosis MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066,Orphanet:31709 1 1 1.0000 condition_record_support_limited 20 0 0 Infantile_convulsions_and_choreoathetosis 1 low_record_burden_interpretation_limited low_record_burden_gene PAGE2B condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene PAFAH1B3 mondo_mondo_0030910_medgen_c4539848_omim_617600 Intellectual disability, autosomal dominant 45 MONDO:MONDO:0030910,MedGen:C4539848,OMIM:617600 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_autosomal_dominant_45 1 low_record_burden_interpretation_limited low_record_burden_gene PAFAH1B1 pafah1b1_associated_lissencephaly_subcortical_band_heterotopia PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia MedGen:CN229785 1 1 1.0000 condition_record_support_limited 20 0 0 PAFAH1B1-Associated_Lissencephaly/Subcortical_Band_Heterotopia 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAFAH1B1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAFAH1B1 human_phenotype_ontology_hp_0002536_human_phenotype_ontology_hp_0006900_medgen_c1856019 Abnormal cortical gyration Human_Phenotype_Ontology:HP:0002536,Human_Phenotype_Ontology:HP:0006900,MedGen:C1856019 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_cortical_gyration 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture PAEP mondo_mondo_0027407_medgen_c0795833_omim_610253_orphanet_261494 Kleefstra syndrome 1 MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494 1 1 1.0000 condition_record_support_limited 20 0 0 Kleefstra_syndrome_1 1 low_record_burden_interpretation_limited low_record_burden_gene PADI3 padi3_related_disorder PADI3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PADI3-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene PADI3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 8 low_record_burden_interpretation_limited low_record_burden_gene PACS2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 2 low_record_burden_interpretation_limited low_record_burden_gene PACS2 pacs2_related_disorder PACS2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PACS2-related_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene PACS2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 2 low_record_burden_interpretation_limited low_record_burden_gene PACS2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 2 low_record_burden_interpretation_limited low_record_burden_gene PACS2 mondo_mondo_0054845_medgen_c4748070_omim_618067 Developmental and epileptic encephalopathy, 66 MONDO:MONDO:0054845,MedGen:C4748070,OMIM:618067 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_66 2 low_record_burden_interpretation_limited low_record_burden_gene PACS2 mondo_mondo_0010632_medgen_c3463992_omim_308350 Developmental and epileptic encephalopathy, 1 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_1 2 low_record_burden_interpretation_limited low_record_burden_gene PACS1 pacs1_related_syndrome PACS1-related syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 PACS1-related_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene PACS1 pacs1_related_disorder PACS1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PACS1-related_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene PACS1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene PACS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 6 low_record_burden_interpretation_limited low_record_burden_gene PACS1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 6 low_record_burden_interpretation_limited low_record_burden_gene PACRG mondo_mondo_0017279_medgen_c4275179_orphanet_2828 Young-onset Parkinson disease MONDO:MONDO:0017279,MedGen:C4275179,Orphanet:2828 1 1 1.0000 condition_record_support_limited 20 0 1 Young-onset_Parkinson_disease 3 low_record_burden_interpretation_limited low_record_burden_gene PACRG mondo_mondo_0008200_medgen_c1868595_omim_168601 Autosomal dominant Parkinson disease 1 MONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_Parkinson_disease_1 3 low_record_burden_interpretation_limited low_record_burden_gene PABPN1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 12 low_record_burden_interpretation_limited low_record_burden_gene PABPC1L mondo_mondo_0014769_medgen_cn238505_omim_ps615774 Inherited oocyte maturation defect MONDO:MONDO:0014769,MedGen:CN238505,OMIM:PS615774 1 1 1.0000 condition_record_support_limited 20 0 0 Inherited_oocyte_maturation_defect 10 low_record_burden_interpretation_limited low_record_burden_gene PABPC1L mondo_mondo_0014342_medgen_c4014291_omim_615774_orphanet_404466 Female infertility due to zona pellucida defect MONDO:MONDO:0014342,MedGen:C4014291,OMIM:615774,Orphanet:404466 1 1 1.0000 condition_record_support_limited 20 0 0 Female_infertility_due_to_zona_pellucida_defect 10 low_record_burden_interpretation_limited low_record_burden_gene PABPC1 human_phenotype_ontology_hp_0004935_medgen_c0265908 Pulmonary artery atresia Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908 1 1 1.0000 condition_record_support_limited 20 0 0 Pulmonary_artery_atresia 2 low_record_burden_interpretation_limited low_record_burden_gene PABPC1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 2 low_record_burden_interpretation_limited low_record_burden_gene P4HTM mondo_mondo_0032889_medgen_c5231482_omim_618732_orphanet_689397 Poirier-Bienvenu neurodevelopmental syndrome MONDO:MONDO:0032889,MedGen:C5231482,OMIM:618732,Orphanet:689397 1 1 1.0000 condition_record_support_limited 20 0 0 Poirier-Bienvenu_neurodevelopmental_syndrome 13 low_record_burden_interpretation_limited low_record_burden_gene P4HTM human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 13 low_record_burden_interpretation_limited low_record_burden_gene P4HA1 congenital_disorder_of_connective_tissue Congenital disorder of connective tissue . 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_disorder_of_connective_tissue 1 low_record_burden_interpretation_limited low_record_burden_gene P3H2 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 53 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture P3H2 medgen_c4751232_orphanet_98619 Rare isolated myopia MedGen:C4751232,Orphanet:98619 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_isolated_myopia 53 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture P3H2 p3h2_related_disorder P3H2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 P3H2-related_disorder 53 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture P3H2 human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Myopia Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 1 1 1.0000 condition_record_support_limited 20 0 0 Myopia 53 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture P3H1 osteogenesis_imperfecta_recessive Osteogenesis Imperfecta, Recessive . 1 1 1.0000 condition_record_support_limited 20 0 1 Osteogenesis_Imperfecta,_Recessive 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture P2RY8 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 1 low_record_burden_interpretation_limited low_record_burden_gene P2RY12 p2ry12_related_disorder P2RY12-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 P2RY12-related_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture P2RY12 med12l_associated_neurodevelopmental_disorder MED12L-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 MED12L-associated_neurodevelopmental_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture P2RY12 human_phenotype_ontology_hp_0004866_medgen_c4025282 Impaired ADP-induced platelet aggregation Human_Phenotype_Ontology:HP:0004866,MedGen:C4025282 1 1 1.0000 condition_record_support_limited 20 0 1 Impaired_ADP-induced_platelet_aggregation 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture P2RY12 human_phenotype_ontology_hp_0011869_medgen_c0855740 Abnormal platelet function Human_Phenotype_Ontology:HP:0011869,MedGen:C0855740 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_platelet_function 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture P2RX2 mondo_mondo_0019587_medgen_c5779548_omim_ps124900_orphanet_90635 Autosomal dominant nonsyndromic hearing loss MONDO:MONDO:0019587,MedGen:C5779548,OMIM:PS124900,Orphanet:90635 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_nonsyndromic_hearing_loss 5 low_record_burden_interpretation_limited low_record_burden_gene OXTR mondo_mondo_0008051_medgen_c0410207_omim_ps160565_orphanet_2593 Myopathy with tubular aggregates MONDO:MONDO:0008051,MedGen:C0410207,OMIM:PS160565,Orphanet:2593 1 1 1.0000 condition_record_support_limited 20 0 1 Myopathy_with_tubular_aggregates 16 low_record_burden_interpretation_limited low_record_burden_gene OXTR mondo_mondo_0008647_medgen_c3495498_omim_192600 Hypertrophic cardiomyopathy 1 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrophic_cardiomyopathy_1 16 low_record_burden_interpretation_limited low_record_burden_gene OXTR mondo_mondo_0013686_medgen_c3280443_omim_614321_orphanet_488650 Distal myopathy, Tateyama type MONDO:MONDO:0013686,MedGen:C3280443,OMIM:614321,Orphanet:488650 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_myopathy,_Tateyama_type 16 low_record_burden_interpretation_limited low_record_burden_gene OXTR cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 16 low_record_burden_interpretation_limited low_record_burden_gene OXTR cav3_related_disorder CAV3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CAV3-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene OXTR human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_musculature 16 low_record_burden_interpretation_limited low_record_burden_gene OXSM mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 1 low_record_burden_interpretation_limited low_record_burden_gene OXA1L mondo_mondo_0009109_medgen_c0268647_omim_222700_orphanet_470 Lysinuric protein intolerance MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700,Orphanet:470 1 1 1.0000 condition_record_support_limited 20 0 0 Lysinuric_protein_intolerance 3 low_record_burden_interpretation_limited low_record_burden_gene OTX2 human_phenotype_ontology_hp_0000411_human_phenotype_ontology_hp_0000412_medgen_c1855285 Protruding ear Human_Phenotype_Ontology:HP:0000411,Human_Phenotype_Ontology:HP:0000412,MedGen:C1855285 1 1 1.0000 condition_record_support_limited 20 0 1 Protruding_ear 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTX2 human_phenotype_ontology_hp_0000307_human_phenotype_ontology_hp_0005330_medgen_c1844505 Pointed chin Human_Phenotype_Ontology:HP:0000307,Human_Phenotype_Ontology:HP:0005330,MedGen:C1844505 1 1 1.0000 condition_record_support_limited 20 0 1 Pointed_chin 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTX2 mondo_mondo_0013518_medgen_c3151440_omim_613986 Pituitary hormone deficiency, combined, 6 MONDO:MONDO:0013518,MedGen:C3151440,OMIM:613986 1 1 1.0000 condition_record_support_limited 20 0 1 Pituitary_hormone_deficiency,_combined,_6 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTX2 human_phenotype_ontology_hp_0002183_medgen_c0751466 Phonophobia Human_Phenotype_Ontology:HP:0002183,MedGen:C0751466 1 1 1.0000 condition_record_support_limited 20 0 1 Phonophobia 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTX2 human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 1.0000 condition_record_support_limited 20 0 1 Nystagmus 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTX2 human_phenotype_ontology_hp_0000369_medgen_c0239234 Low-set ears Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234 1 1 1.0000 condition_record_support_limited 20 0 1 Low-set_ears 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTX2 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 0 Leber_congenital_amaurosis 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTX2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTX2 human_phenotype_ontology_hp_0000601_human_phenotype_ontology_hp_0007877_medgen_c0424711 Hypotelorism Human_Phenotype_Ontology:HP:0000601,Human_Phenotype_Ontology:HP:0007877,MedGen:C0424711 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotelorism 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTX2 human_phenotype_ontology_hp_0001276_human_phenotype_ontology_hp_0002388_medgen_c0026826 Hypertonia Human_Phenotype_Ontology:HP:0001276,Human_Phenotype_Ontology:HP:0002388,MedGen:C0026826 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertonia 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTX2 human_phenotype_ontology_hp_0000666_medgen_c0271385 Horizontal nystagmus Human_Phenotype_Ontology:HP:0000666,MedGen:C0271385 1 1 1.0000 condition_record_support_limited 20 0 1 Horizontal_nystagmus 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTX2 human_phenotype_ontology_hp_0000739_mondo_mondo_0011918_medgen_c0003467_omim_607834 Anxiety Human_Phenotype_Ontology:HP:0000739,MONDO:MONDO:0011918,MedGen:C0003467,OMIM:607834 1 1 1.0000 condition_record_support_limited 20 0 1 Anxiety 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTULIN mondo_mondo_0007319_medgen_c0856830_omim_118600_orphanet_1416 Chondrocalcinosis 2 MONDO:MONDO:0007319,MedGen:C0856830,OMIM:118600,Orphanet:1416 1 1 1.0000 condition_record_support_limited 20 0 1 Chondrocalcinosis_2 17 low_record_burden_interpretation_limited low_record_burden_gene OTULIN medgen_c4016917 CHONDROCALCINOSIS 2, SPORADIC MedGen:C4016917 1 1 1.0000 condition_record_support_limited 20 0 0 CHONDROCALCINOSIS_2,_SPORADIC 17 low_record_burden_interpretation_limited low_record_burden_gene OTULIN mondo_mondo_0700338_medgen_c5975538_omim_621030 Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant MONDO:MONDO:0700338,MedGen:C5975538,OMIM:621030 1 1 1.0000 condition_record_support_limited 20 0 0 Autoinflammation,_panniculitis,_and_dermatosis_syndrome,_autosomal_dominant 17 low_record_burden_interpretation_limited low_record_burden_gene OTUD7A human_phenotype_ontology_hp_0001328_human_phenotype_ontology_hp_0007234_mondo_mondo_0016225_medgen_c4025790_orphanet_211047 Specific learning disability Human_Phenotype_Ontology:HP:0001328,Human_Phenotype_Ontology:HP:0007234,MONDO:MONDO:0016225,MedGen:C4025790,Orphanet:211047 1 1 1.0000 condition_record_support_limited 20 0 1 Specific_learning_disability 3 low_record_burden_interpretation_limited low_record_burden_gene OTUD7A human_phenotype_ontology_hp_0011344_medgen_c1837397 Severe global developmental delay Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_global_developmental_delay 3 low_record_burden_interpretation_limited low_record_burden_gene OTUD7A mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene OTUD7A human_phenotype_ontology_hp_0002463_mondo_mondo_0004750_medgen_c0023015 Language disorder Human_Phenotype_Ontology:HP:0002463,MONDO:MONDO:0004750,MedGen:C0023015 1 1 1.0000 condition_record_support_limited 20 0 1 Language_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene OTUD7A human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 1 Epileptic_encephalopathy 3 low_record_burden_interpretation_limited low_record_burden_gene OTUD5 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene OTUD5 otud5_related_disorder OTUD5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 OTUD5-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene OTUD5 mondo_mondo_0010476_medgen_c3550973_omim_300894_orphanet_329284 Neurodegeneration with brain iron accumulation 5 MONDO:MONDO:0010476,MedGen:C3550973,OMIM:300894,Orphanet:329284 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodegeneration_with_brain_iron_accumulation_5 9 low_record_burden_interpretation_limited low_record_burden_gene OTUD5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 9 low_record_burden_interpretation_limited low_record_burden_gene OTOP2 mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 Usher syndrome MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 1 1 1.0000 condition_record_support_limited 20 0 0 Usher_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene OTOGL mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 1.0000 condition_record_support_limited 20 0 0 Nonsyndromic_genetic_hearing_loss 99 large_gene_or_donor_burden_stress_case donor_burden_stress OTOGL monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 99 large_gene_or_donor_burden_stress_case donor_burden_stress OTOGL mondo_mondo_0007972_medgen_c0025281_omim_156000 Meniere disease MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000 1 1 1.0000 condition_record_support_limited 20 0 1 Meniere_disease 99 large_gene_or_donor_burden_stress_case donor_burden_stress OTOGL mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 99 large_gene_or_donor_burden_stress_case donor_burden_stress OTOGL mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 0 Hearing_loss,_autosomal_recessive 99 large_gene_or_donor_burden_stress_case donor_burden_stress OTOG human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 130 large_gene_or_donor_burden_stress_case donor_burden_stress OTOG mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 1.0000 condition_record_support_limited 20 0 0 Nonsyndromic_genetic_hearing_loss 130 large_gene_or_donor_burden_stress_case donor_burden_stress OTOG human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 130 large_gene_or_donor_burden_stress_case donor_burden_stress OTOG medgen_c0011053 Deafness MedGen:C0011053 1 1 1.0000 condition_record_support_limited 20 0 1 Deafness 130 large_gene_or_donor_burden_stress_case donor_burden_stress OTOF monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 355 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture OTOF mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 355 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture OTOA mondo_mondo_0010967_medgen_c1832978_omim_600974_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 7 MONDO:MONDO:0010967,MedGen:C1832978,OMIM:600974,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_nonsyndromic_hearing_loss_7 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTOA mondo_mondo_0009076_medgen_c2673759_omim_220290_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 1A MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_nonsyndromic_hearing_loss_1A 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTC human_phenotype_ontology_hp_0002038_medgen_c1839531 Protein avoidance Human_Phenotype_Ontology:HP:0002038,MedGen:C1839531 1 1 1.0000 condition_record_support_limited 20 0 1 Protein_avoidance 438 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTC human_phenotype_ontology_hp_0001987_human_phenotype_ontology_hp_0008308_human_phenotype_ontology_hp_0008334_medgen_c5574662 Hyperammonemia Human_Phenotype_Ontology:HP:0001987,Human_Phenotype_Ontology:HP:0008308,Human_Phenotype_Ontology:HP:0008334,MedGen:C5574662 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperammonemia 438 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTC mondo_mondo_0010600_medgen_c1844376_omim_306400_orphanet_379 Granulomatous disease, chronic, X-linked MONDO:MONDO:0010600,MedGen:C1844376,OMIM:306400,Orphanet:379 1 1 1.0000 condition_record_support_limited 20 0 0 Granulomatous_disease,_chronic,_X-linked 438 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OTC human_phenotype_ontology_hp_0012025_medgen_c4023070 Abnormal circulating ornithine concentration Human_Phenotype_Ontology:HP:0012025,MedGen:C4023070 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_circulating_ornithine_concentration 438 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OSTM1 human_phenotype_ontology_hp_0011002_mondo_mondo_0017198_medgen_c0029454_orphanet_2781 Osteopetrosis Human_Phenotype_Ontology:HP:0011002,MONDO:MONDO:0017198,MedGen:C0029454,Orphanet:2781 1 1 1.0000 condition_record_support_limited 20 0 0 Osteopetrosis 27 compact_adjacent_exon_block_opportunity local_compact_architecture OSM mondo_mondo_0014558_medgen_c4225396_omim_616268_orphanet_457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome MONDO:MONDO:0014558,MedGen:C4225396,OMIM:616268,Orphanet:457193 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_intellectual_disability-craniofacial_anomalies-cardiac_defects_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene OSGEP mondo_mondo_0014758_medgen_c4225221_omim_616738_orphanet_71289 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 MONDO:MONDO:0014758,MedGen:C4225221,OMIM:616738,Orphanet:71289 1 1 1.0000 condition_record_support_limited 20 0 1 Radioulnar_synostosis_with_amegakaryocytic_thrombocytopenia_2 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OSGEP osgep_related_disorder OSGEP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 OSGEP-related_disorder 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OSGEP mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OSGEP mondo_mondo_0009627_medgen_c0795949_omim_ps251300_orphanet_2065 Galloway-Mowat syndrome MONDO:MONDO:0009627,MedGen:C0795949,OMIM:PS251300,Orphanet:2065 1 1 1.0000 condition_record_support_limited 20 0 1 Galloway-Mowat_syndrome 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OSBPL8 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 1 low_record_burden_interpretation_limited low_record_burden_gene OSBPL8 mondo_mondo_0014438_medgen_c1859568_omim_615987_orphanet_110 Bardet-Biedl syndrome 10 MONDO:MONDO:0014438,MedGen:C1859568,OMIM:615987,Orphanet:110 1 1 1.0000 condition_record_support_limited 20 0 1 Bardet-Biedl_syndrome_10 1 low_record_burden_interpretation_limited low_record_burden_gene OSBPL8 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 1.0000 condition_record_support_limited 20 0 1 Bardet-Biedl_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene OSBP human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene ORC1 orc1_related_disorder ORC1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ORC1-related_disorder 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ORC1 mondo_mondo_0016817_medgen_c1868684_omim_ps224690_orphanet_2554 Meier-Gorlin syndrome MONDO:MONDO:0016817,MedGen:C1868684,OMIM:PS224690,Orphanet:2554 1 1 1.0000 condition_record_support_limited 20 0 1 Meier-Gorlin_syndrome 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OR10Z1 mondo_mondo_0008278_medgen_c1832942_omim_175050_orphanet_2929 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MONDO:MONDO:0008278,MedGen:C1832942,OMIM:175050,Orphanet:2929 1 1 1.0000 condition_record_support_limited 20 0 1 Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene OPTN mondo_mondo_0012790_medgen_c2677565_omim_612069_orphanet_275872_orphanet_803 Amyotrophic lateral sclerosis type 10 MONDO:MONDO:0012790,MedGen:C2677565,OMIM:612069,Orphanet:275872,Orphanet:803 1 1 1.0000 condition_record_support_limited 20 0 1 Amyotrophic_lateral_sclerosis_type_10 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPN1MW human_phenotype_ontology_hp_0007939_mondo_mondo_0010563_medgen_c0339537_omim_303700_orphanet_16 Cone monochromatism Human_Phenotype_Ontology:HP:0007939,MONDO:MONDO:0010563,MedGen:C0339537,OMIM:303700,Orphanet:16 1 1 1.0000 condition_record_support_limited 20 0 1 Cone_monochromatism 6 low_record_burden_interpretation_limited low_record_burden_gene OPN1MW mondo_mondo_0800319_medgen_c3887937 Cone dystrophy 5, X-linked MONDO:MONDO:0800319,MedGen:C3887937 1 1 1.0000 condition_record_support_limited 20 0 0 Cone_dystrophy_5,_X-linked 6 low_record_burden_interpretation_limited low_record_burden_gene OPN1MW human_phenotype_ontology_hp_0011516_mondo_mondo_0018852_medgen_c0152200_orphanet_49382 Achromatopsia Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382 1 1 1.0000 condition_record_support_limited 20 0 0 Achromatopsia 6 low_record_burden_interpretation_limited low_record_burden_gene OPHN1 human_phenotype_ontology_hp_0001562_human_phenotype_ontology_hp_0004638_mondo_mondo_0005881_medgen_c0079924 Oligohydramnios Human_Phenotype_Ontology:HP:0001562,Human_Phenotype_Ontology:HP:0004638,MONDO:MONDO:0005881,MedGen:C0079924 1 1 1.0000 condition_record_support_limited 20 0 1 Oligohydramnios 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPHN1 human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 1.0000 condition_record_support_limited 20 0 1 Nystagmus 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPHN1 human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Hypoplasia of the corpus callosum Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplasia_of_the_corpus_callosum 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPHN1 human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Delayed gross motor development Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_gross_motor_development 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPHN1 mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cerebellar_hypoplasia 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPHN1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPCML human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Ovarian neoplasm Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_neoplasm 1 low_record_burden_interpretation_limited low_record_burden_gene OPA1 mondo_mondo_0019353_medgen_c0271093_omim_ps248200_orphanet_827 Stargardt disease MONDO:MONDO:0019353,MedGen:C0271093,OMIM:PS248200,Orphanet:827 1 1 1.0000 condition_record_support_limited 20 0 1 Stargardt_disease 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA1 possible_mitochondrial_disorder_nuclear_genes Possible mitochondrial disorder - nuclear genes . 1 1 1.0000 condition_record_support_limited 20 0 1 Possible_mitochondrial_disorder_-_nuclear_genes 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA1 ocular_impairment Ocular impairment . 1 1 1.0000 condition_record_support_limited 20 0 1 Ocular_impairment 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA1 hereditary_neuropathy_or_pain_disorder Hereditary neuropathy or pain disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_neuropathy_or_pain_disorder 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA1 mondo_mondo_0020250_medgen_c4551508_orphanet_98672 Dominant hereditary optic atrophy MONDO:MONDO:0020250,MedGen:C4551508,Orphanet:98672 1 1 1.0000 condition_record_support_limited 20 0 0 Dominant_hereditary_optic_atrophy 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA1 mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 Centronuclear myopathy MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 1 1 1.0000 condition_record_support_limited 20 0 1 Centronuclear_myopathy 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA1 mondo_mondo_0020380_medgen_c4087347_omim_ps164400_orphanet_99 Autosomal dominant cerebellar ataxia MONDO:MONDO:0020380,MedGen:C4087347,OMIM:PS164400,Orphanet:99 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_cerebellar_ataxia 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OPA1 mondo_mondo_0009787_medgen_c0574084_omim_258501_orphanet_67047 3-Methylglutaconic aciduria type 3 MONDO:MONDO:0009787,MedGen:C0574084,OMIM:258501,Orphanet:67047 1 1 1.0000 condition_record_support_limited 20 0 1 3-Methylglutaconic_aciduria_type_3 369 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OGT mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 17 low_record_burden_interpretation_limited low_record_burden_gene OGDHL human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_morphology 8 low_record_burden_interpretation_limited low_record_burden_gene OFD1 human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Ventriculomegaly Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 1 1 1.0000 condition_record_support_limited 20 0 1 Ventriculomegaly 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OFD1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OFD1 respiratory_ciliopathies_including_non_cf_bronchiectasis Respiratory ciliopathies including non-CF bronchiectasis . 1 1 1.0000 condition_record_support_limited 20 0 1 Respiratory_ciliopathies_including_non-CF_bronchiectasis 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OFD1 human_phenotype_ontology_hp_0002126_mondo_mondo_0000087_medgen_c0266464_orphanet_35981 Polymicrogyria Human_Phenotype_Ontology:HP:0002126,MONDO:MONDO:0000087,MedGen:C0266464,Orphanet:35981 1 1 1.0000 condition_record_support_limited 20 0 1 Polymicrogyria 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OFD1 mondo_mondo_0015375_medgen_c0029294_omim_ps311200_orphanet_140997 Orofaciodigital syndrome MONDO:MONDO:0015375,MedGen:C0029294,OMIM:PS311200,Orphanet:140997 1 1 1.0000 condition_record_support_limited 20 0 0 Orofaciodigital_syndrome 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OFD1 mondo_mondo_0009793_medgen_c0406726_omim_258850_orphanet_2752 Orofacial-digital syndrome III MONDO:MONDO:0009793,MedGen:C0406726,OMIM:258850,Orphanet:2752 1 1 1.0000 condition_record_support_limited 20 0 1 Orofacial-digital_syndrome_III 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OFD1 mondo_mondo_1040039_medgen_cn379779 OFD1-related ciliopathy MONDO:MONDO:1040039,MedGen:CN379779 1 1 1.0000 condition_record_support_limited 20 0 1 OFD1-related_ciliopathy 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OFD1 mondo_mondo_0001106_medgen_c0035078 Kidney failure MONDO:MONDO:0001106,MedGen:C0035078 1 1 1.0000 condition_record_support_limited 20 0 1 Kidney_failure 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OFD1 mondo_mondo_0008438_medgen_c1866855_omim_182601_orphanet_100985 Hereditary spastic paraplegia 4 MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601,Orphanet:100985 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia_4 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OFD1 mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 1 1 1.0000 condition_record_support_limited 20 0 1 Connective_tissue_disorder 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OFD1 human_phenotype_ontology_hp_0001320_medgen_c1840379 Cerebellar vermis hypoplasia Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_vermis_hypoplasia 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OFD1 mondo_mondo_0100349_medgen_c1857662_orphanet_1454 COACH syndrome MONDO:MONDO:0100349,MedGen:C1857662,Orphanet:1454 1 1 1.0000 condition_record_support_limited 20 0 1 COACH_syndrome 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ODF2 odf2_related_disorder ODF2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ODF2-related_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene ODAPH condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene ODAD4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene ODAD4 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_ciliary_dyskinesia 11 low_record_burden_interpretation_limited low_record_burden_gene ODAD4 human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Heterotaxy Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 1 1 1.0000 condition_record_support_limited 20 0 0 Heterotaxy 11 low_record_burden_interpretation_limited low_record_burden_gene ODAD3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ODAD3 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_ciliary_dyskinesia 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ODAD3 odad3_related_disorder ODAD3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ODAD3-related_disorder 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ODAD3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ODAD2 odad2_related_disorder ODAD2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ODAD2-related_disorder 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ODAD2 mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 Kartagener syndrome MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 1 Kartagener_syndrome 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ODAD1 mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 Kartagener syndrome MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 1 Kartagener_syndrome 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OCRL human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OCRL mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OCRL human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_cataract 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OCLN ocln_related_disorder OCLN-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 OCLN-related_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OCA2 mondo_mondo_0018570_mesh_d007014_medgen_c0020630_orphanet_436 Hypophosphatasia MONDO:MONDO:0018570,MeSH:D007014,MedGen:C0020630,Orphanet:436 1 1 1.0000 condition_record_support_limited 20 0 1 Hypophosphatasia 309 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OCA2 medgen_c0268497 Brown oculocutaneous albinism MedGen:C0268497 1 1 1.0000 condition_record_support_limited 20 0 1 Brown_oculocutaneous_albinism 309 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OBSL1 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 73 compact_adjacent_exon_block_opportunity local_compact_architecture OBSCN human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 55 large_gene_or_donor_burden_stress_case donor_burden_stress OBSCN mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 55 large_gene_or_donor_burden_stress_case donor_burden_stress OBSCN mondo_mondo_0008647_medgen_c3495498_omim_192600 Hypertrophic cardiomyopathy 1 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrophic_cardiomyopathy_1 55 large_gene_or_donor_burden_stress_case donor_burden_stress OBSCN mondo_mondo_0859374_medgen_c5774309_omim_620238 Hearing loss, autosomal recessive 120 MONDO:MONDO:0859374,MedGen:C5774309,OMIM:620238 1 1 1.0000 condition_record_support_limited 20 0 0 Hearing_loss,_autosomal_recessive_120 55 large_gene_or_donor_burden_stress_case donor_burden_stress OBSCN mondo_mondo_0012180_medgen_c1836906_omim_609040 Arrhythmogenic right ventricular dysplasia 9 MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040 1 1 1.0000 condition_record_support_limited 20 0 1 Arrhythmogenic_right_ventricular_dysplasia_9 55 large_gene_or_donor_burden_stress_case donor_burden_stress OBSCN human_phenotype_ontology_hp_0008942_medgen_c3807306 Acute rhabdomyolysis Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 1 1 1.0000 condition_record_support_limited 20 0 0 Acute_rhabdomyolysis 55 large_gene_or_donor_burden_stress_case donor_burden_stress OAT human_phenotype_ontology_hp_0001123_medgen_c3887875 Visual field defect Human_Phenotype_Ontology:HP:0001123,MedGen:C3887875 1 1 1.0000 condition_record_support_limited 20 0 1 Visual_field_defect 150 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OAT human_phenotype_ontology_hp_0012531_medgen_c0030193 Pain Human_Phenotype_Ontology:HP:0012531,MedGen:C0030193 1 1 1.0000 condition_record_support_limited 20 0 1 Pain 150 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OAT human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 1.0000 condition_record_support_limited 20 0 1 Optic_atrophy 150 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OAT human_phenotype_ontology_hp_0000610_mondo_mondo_0001898_medgen_c4025836 Abnormal choroid morphology Human_Phenotype_Ontology:HP:0000610,MONDO:MONDO:0001898,MedGen:C4025836 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_choroid_morphology 150 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture OAS2 mondo_mondo_0700392_medgen_cn380262_omim_621409 Autoinflammation and autoimmunity with immune dysregulation 2 MONDO:MONDO:0700392,MedGen:CN380262,OMIM:621409 1 1 1.0000 condition_record_support_limited 20 0 0 Autoinflammation_and_autoimmunity_with_immune_dysregulation_2 1 low_record_burden_interpretation_limited low_record_burden_gene OAS1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene NYX inherited_retinal_disease inherited retinal disease . 1 1 1.0000 condition_record_support_limited 20 0 0 inherited_retinal_disease 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NYX human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_eye 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NXT2 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility 1 low_record_burden_interpretation_limited low_record_burden_gene NXN human_phenotype_ontology_hp_0006402_medgen_c1840307 Distal shortening of limbs Human_Phenotype_Ontology:HP:0006402,MedGen:C1840307 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_shortening_of_limbs 7 low_record_burden_interpretation_limited low_record_burden_gene NXF3 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility 1 low_record_burden_interpretation_limited low_record_burden_gene NUSAP1 mondo_mondo_0013254_medgen_c3150667_omim_613402_orphanet_1934 Microcephaly, seizures, and developmental delay MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402,Orphanet:1934 1 1 1.0000 condition_record_support_limited 20 0 0 Microcephaly,_seizures,_and_developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene NUS1 nus1_related_epilepsy_myoclonus_ataxia_syndrome NUS1-related epilepsy-myoclonus-ataxia syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 NUS1-related_epilepsy-myoclonus-ataxia_syndrome 81 compact_adjacent_exon_block_opportunity local_compact_architecture NUS1 human_phenotype_ontology_hp_0032407_mondo_mondo_0020340_medgen_c1845668_orphanet_98889 Congenital bilateral perisylvian syndrome Human_Phenotype_Ontology:HP:0032407,MONDO:MONDO:0020340,MedGen:C1845668,Orphanet:98889 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_bilateral_perisylvian_syndrome 81 compact_adjacent_exon_block_opportunity local_compact_architecture NUP98 mondo_mondo_0007723_medgen_c3888239_omim_142623_orphanet_388 Hirschsprung disease, susceptibility to, 1 MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388 1 1 1.0000 condition_record_support_limited 20 0 0 Hirschsprung_disease,_susceptibility_to,_1 1 low_record_burden_interpretation_limited low_record_burden_gene NUP93 nup93_related_disorder NUP93-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 NUP93-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene NUP93 human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 1.0000 condition_record_support_limited 20 0 0 Focal_segmental_glomerulosclerosis 19 low_record_burden_interpretation_limited low_record_burden_gene NUP62 mondo_mondo_0015518_medgen_c0795996_orphanet_1576 Infantile bilateral striatal necrosis MONDO:MONDO:0015518,MedGen:C0795996,Orphanet:1576 1 1 1.0000 condition_record_support_limited 20 0 0 Infantile_bilateral_striatal_necrosis 1 low_record_burden_interpretation_limited low_record_burden_gene NUP214 human_phenotype_ontology_hp_0006947_human_phenotype_ontology_hp_0007335_medgen_c1850719 Recurrent encephalopathy Human_Phenotype_Ontology:HP:0006947,Human_Phenotype_Ontology:HP:0007335,MedGen:C1850719 1 1 1.0000 condition_record_support_limited 20 0 1 Recurrent_encephalopathy 10 low_record_burden_interpretation_limited low_record_burden_gene NUP214 human_phenotype_ontology_hp_0000253_medgen_c1850456 Progressive microcephaly Human_Phenotype_Ontology:HP:0000253,MedGen:C1850456 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_microcephaly 10 low_record_burden_interpretation_limited low_record_burden_gene NUP214 nup214_related_disorder NUP214-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 NUP214-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene NUP214 human_phenotype_ontology_hp_0001434_human_phenotype_ontology_hp_0001510_human_phenotype_ontology_hp_0001512_human_phenotype_ontology_hp_0001514_human_phenotype_ontology_hp_0001517_human_phenotype_ontology_hp_0001532_human_phenotype_ontology_hp_0008847_human_phenotype_ontology_hp_0008870_human_phenotype_ontology_hp_0008886_human_phenotype_ontology_hp_0008893_human_phenotype_ontology_hp_0008926_medgen_c0456070 Growth delay Human_Phenotype_Ontology:HP:0001434,Human_Phenotype_Ontology:HP:0001510,Human_Phenotype_Ontology:HP:0001512,Human_Phenotype_Ontology:HP:0001514,Human_Phenotype_Ontology:HP:0001517,Human_Phenotype_Ontology:HP:0001532,Human_Phenotype_Ontology:HP:0008847,Human_Phenotype_Ontology:HP:0008870,Human_Phenotype_Ontology:HP:0008886,Human_Phenotype_Ontology:HP:0008893,Human_Phenotype_Ontology:HP:0008926,MedGen:C0456070 1 1 1.0000 condition_record_support_limited 20 0 1 Growth_delay 10 low_record_burden_interpretation_limited low_record_burden_gene NUP214 medgen_c0424605 Developmental delay MedGen:C0424605 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_delay 10 low_record_burden_interpretation_limited low_record_burden_gene NUP214 medgen_c0266617 Congenital anomaly of face MedGen:C0266617 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_anomaly_of_face 10 low_record_burden_interpretation_limited low_record_burden_gene NUP160 nup160_related_disorder NUP160-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 NUP160-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene NUP155 mondo_mondo_0014340_medgen_c4014269_omim_615770 Atrial fibrillation, familial, 15 MONDO:MONDO:0014340,MedGen:C4014269,OMIM:615770 1 1 1.0000 condition_record_support_limited 20 0 0 Atrial_fibrillation,_familial,_15 1 low_record_burden_interpretation_limited low_record_burden_gene NUP133 autosomal_recessive_nup133_related_disorders Autosomal recessive NUP133-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_NUP133-related_disorders 8 low_record_burden_interpretation_limited low_record_burden_gene NUP107 mondo_mondo_0054850_medgen_c4748084_omim_618078 Ovarian dysgenesis 6 MONDO:MONDO:0054850,MedGen:C4748084,OMIM:618078 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_dysgenesis_6 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NUP107 light_complexion Light complexion . 1 1 1.0000 condition_record_support_limited 20 0 1 Light_complexion 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NUP107 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NUP107 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NUP107 early_onset_focal_segmental_glomerulosclerosis Early onset focal segmental glomerulosclerosis . 1 1 1.0000 condition_record_support_limited 20 0 1 Early_onset_focal_segmental_glomerulosclerosis 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NUMA1 mondo_mondo_0002380_mesh_d009208_medgen_c0027070 Myoepithelial tumor MONDO:MONDO:0002380,MeSH:D009208,MedGen:C0027070 1 1 1.0000 condition_record_support_limited 20 0 0 Myoepithelial_tumor 1 low_record_burden_interpretation_limited low_record_burden_gene NUF2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene NUF2 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene NUF2 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 1 low_record_burden_interpretation_limited low_record_burden_gene NUDT2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene NUDT2 nudt2_associated_condition NUDT2-associated condition . 1 1 1.0000 condition_record_support_limited 20 0 1 NUDT2-associated_condition 3 low_record_burden_interpretation_limited low_record_burden_gene NUDT2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 3 low_record_burden_interpretation_limited low_record_burden_gene NUDT2 mondo_mondo_0100038_medgen_c5568766_orphanet_528084 Complex neurodevelopmental disorder MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 1 1 1.0000 condition_record_support_limited 20 0 1 Complex_neurodevelopmental_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene NUDCD3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene NUDC medgen_c4016893 Obesity, mild, early-onset MedGen:C4016893 1 1 1.0000 condition_record_support_limited 20 0 0 Obesity,_mild,_early-onset 4 low_record_burden_interpretation_limited low_record_burden_gene NUDC mondo_mondo_0019182_medgen_c4054476_omim_601665_orphanet_77828 Inherited obesity MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828 1 1 1.0000 condition_record_support_limited 20 0 0 Inherited_obesity 4 low_record_burden_interpretation_limited low_record_burden_gene NUBPL mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 Mitochondrial complex I deficiency MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency 19 low_record_burden_interpretation_limited low_record_burden_gene NUAK2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene NUAK2 mondo_mondo_0030338_medgen_c5561945_omim_619452 Anencephaly 2 MONDO:MONDO:0030338,MedGen:C5561945,OMIM:619452 1 1 1.0000 condition_record_support_limited 20 0 0 Anencephaly_2 2 low_record_burden_interpretation_limited low_record_burden_gene NTRK2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 14 low_record_burden_interpretation_limited low_record_burden_gene NTRK1 medgen_c4760611_omim_618377 PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1 MedGen:C4760611,OMIM:618377 1 1 1.0000 condition_record_support_limited 20 0 1 PAIN_SENSITIVITY_QUANTITATIVE_TRAIT_LOCUS_1 199 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NTRK1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 199 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NTRK1 ntrk1_related_disorder NTRK1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 NTRK1-related_disorder 199 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NTRK1 mondo_mondo_0007958_medgen_c1833921_omim_155240_orphanet_653_orphanet_99361 Familial medullary thyroid carcinoma MONDO:MONDO:0007958,MedGen:C1833921,OMIM:155240,Orphanet:653,Orphanet:99361 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_medullary_thyroid_carcinoma 199 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NTNG2 human_phenotype_ontology_hp_0012171_medgen_c0562479 Stereotypical hand wringing Human_Phenotype_Ontology:HP:0012171,MedGen:C0562479 1 1 1.0000 condition_record_support_limited 20 0 1 Stereotypical_hand_wringing 8 low_record_burden_interpretation_limited low_record_burden_gene NTNG2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 8 low_record_burden_interpretation_limited low_record_burden_gene NTNG2 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 8 low_record_burden_interpretation_limited low_record_burden_gene NTNG2 human_phenotype_ontology_hp_0001284_human_phenotype_ontology_hp_0001314_medgen_c0234146 Areflexia Human_Phenotype_Ontology:HP:0001284,Human_Phenotype_Ontology:HP:0001314,MedGen:C0234146 1 1 1.0000 condition_record_support_limited 20 0 1 Areflexia 8 low_record_burden_interpretation_limited low_record_burden_gene NTNG2 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 8 low_record_burden_interpretation_limited low_record_burden_gene NTHL1 nthl1_related_disorder NTHL1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 NTHL1-related_disorder 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NTHL1 mondo_mondo_0021056_medgen_c2713442_omim_175100 Familial adenomatous polyposis 1 MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_adenomatous_polyposis_1 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NTF4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 1 low_record_burden_interpretation_limited low_record_burden_gene NT5DC4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene NT5C2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NSUN3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene NSUN3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 5 low_record_burden_interpretation_limited low_record_burden_gene NSUN2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NSRP1 condition_not_provided condition not provided MedGen:CN169374 1 1 1.0000 condition_record_support_limited 20 1 0 not_specified 5 low_record_burden_interpretation_limited low_record_burden_gene NSMF mondo_mondo_0019828_medgen_c4053775_orphanet_95496 Pituitary stalk interruption syndrome MONDO:MONDO:0019828,MedGen:C4053775,Orphanet:95496 1 1 1.0000 condition_record_support_limited 20 0 0 Pituitary_stalk_interruption_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene NSMF medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 2 low_record_burden_interpretation_limited low_record_burden_gene NSMCE3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene NSF condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene NSD2 atypical_wolf_hirschhorn_syndrome atypical Wolf-Hirschhorn syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 atypical_Wolf-Hirschhorn_syndrome 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NSD2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NSD2 nsd2_associated_disorder NSD2-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 NSD2-associated_disorder 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NSD2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NSD1 human_phenotype_ontology_hp_0000098_human_phenotype_ontology_hp_0001527_human_phenotype_ontology_hp_0003515_human_phenotype_ontology_hp_0003516_medgen_c0241240 Tall stature Human_Phenotype_Ontology:HP:0000098,Human_Phenotype_Ontology:HP:0001527,Human_Phenotype_Ontology:HP:0003515,Human_Phenotype_Ontology:HP:0003516,MedGen:C0241240 1 1 1.0000 condition_record_support_limited 20 0 1 Tall_stature 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NSD1 human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 1.0000 condition_record_support_limited 20 0 1 Scoliosis 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NSD1 human_phenotype_ontology_hp_0100602_mondo_mondo_0005081_medgen_c0032914_omim_ps189800_orphanet_275555 Preeclampsia Human_Phenotype_Ontology:HP:0100602,MONDO:MONDO:0005081,MedGen:C0032914,OMIM:PS189800,Orphanet:275555 1 1 1.0000 condition_record_support_limited 20 0 1 Preeclampsia 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NSD1 human_phenotype_ontology_hp_0000307_human_phenotype_ontology_hp_0005330_medgen_c1844505 Pointed chin Human_Phenotype_Ontology:HP:0000307,Human_Phenotype_Ontology:HP:0005330,MedGen:C1844505 1 1 1.0000 condition_record_support_limited 20 0 1 Pointed_chin 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NSD1 human_phenotype_ontology_hp_0001548_medgen_c1849265 Overgrowth Human_Phenotype_Ontology:HP:0001548,MedGen:C1849265 1 1 1.0000 condition_record_support_limited 20 0 1 Overgrowth 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NSD1 human_phenotype_ontology_hp_0000938_human_phenotype_ontology_hp_0002768_human_phenotype_ontology_hp_0002799_human_phenotype_ontology_hp_0002800_medgen_c0029453 Osteopenia Human_Phenotype_Ontology:HP:0000938,Human_Phenotype_Ontology:HP:0002768,Human_Phenotype_Ontology:HP:0002799,Human_Phenotype_Ontology:HP:0002800,MedGen:C0029453 1 1 1.0000 condition_record_support_limited 20 0 1 Osteopenia 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NSD1 human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 1.0000 condition_record_support_limited 20 0 0 Non-immune_hydrops_fetalis 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NSD1 marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 1 1 1.0000 condition_record_support_limited 20 0 1 Marfanoid_habitus_and_intellectual_disability 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NSD1 human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NSD1 human_phenotype_ontology_hp_0004324_human_phenotype_ontology_hp_0045083_medgen_c0043094 Increased body weight Human_Phenotype_Ontology:HP:0004324,Human_Phenotype_Ontology:HP:0045083,MedGen:C0043094 1 1 1.0000 condition_record_support_limited 20 0 1 Increased_body_weight 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NSD1 human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Hypoplasia of the corpus callosum Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplasia_of_the_corpus_callosum 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NSD1 human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Hypertelorism Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertelorism 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NSD1 mondo_mondo_0007999_medgen_c1834877_omim_157170_orphanet_2162 Holoprosencephaly 2 MONDO:MONDO:0007999,MedGen:C1834877,OMIM:157170,Orphanet:2162 1 1 1.0000 condition_record_support_limited 20 0 1 Holoprosencephaly_2 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NSD1 human_phenotype_ontology_hp_0000342_human_phenotype_ontology_hp_0000348_medgen_c0239676 High forehead Human_Phenotype_Ontology:HP:0000342,Human_Phenotype_Ontology:HP:0000348,MedGen:C0239676 1 1 1.0000 condition_record_support_limited 20 0 1 High_forehead 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NSD1 human_phenotype_ontology_hp_0009890_medgen_c3276036 High anterior hairline Human_Phenotype_Ontology:HP:0009890,MedGen:C3276036 1 1 1.0000 condition_record_support_limited 20 0 1 High_anterior_hairline 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NSD1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NSD1 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NSD1 human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Delayed gross motor development Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_gross_motor_development 694 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NRXN3 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene NRXN3 human_phenotype_ontology_hp_0000257_human_phenotype_ontology_hp_0001364_human_phenotype_ontology_hp_0004482_medgen_c1849075 Relative macrocephaly Human_Phenotype_Ontology:HP:0000257,Human_Phenotype_Ontology:HP:0001364,Human_Phenotype_Ontology:HP:0004482,MedGen:C1849075 1 1 1.0000 condition_record_support_limited 20 0 1 Relative_macrocephaly 1 low_record_burden_interpretation_limited low_record_burden_gene NRXN2 nrxn2_related_developmental_disorder NRXN2-related developmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 NRXN2-related_developmental_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene NRXN1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRXN1 mondo_mondo_0100038_medgen_c5568766_orphanet_528084 Complex neurodevelopmental disorder MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 1 1 1.0000 condition_record_support_limited 20 0 0 Complex_neurodevelopmental_disorder 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRROS nrros_related_disorder NRROS-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 NRROS-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene NRP2 nrp2_related_disorder NRP2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 NRP2-related_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene NRP2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 1 low_record_burden_interpretation_limited low_record_burden_gene NRL mondo_mondo_0100288_medgen_c1849394_omim_ps268100_orphanet_53540 Enhanced S-cone syndrome MONDO:MONDO:0100288,MedGen:C1849394,OMIM:PS268100,Orphanet:53540 1 1 1.0000 condition_record_support_limited 20 0 1 Enhanced_S-cone_syndrome 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRIP1 mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_anomaly_of_kidney_and_urinary_tract 3 low_record_burden_interpretation_limited low_record_burden_gene NRDE2 mondo_mondo_0859296_medgen_c5774229_omim_620071 Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss MONDO:MONDO:0859296,MedGen:C5774229,OMIM:620071 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_poor_growth,_spastic_tetraplegia,_and_hearing_loss 1 low_record_burden_interpretation_limited low_record_burden_gene NRCAM condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene NRAS mondo_mondo_0024291_medgen_c0158570 Vascular malformation MONDO:MONDO:0024291,MedGen:C0158570 1 1 1.0000 condition_record_support_limited 20 0 1 Vascular_malformation 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAS mondo_mondo_0008566_medgen_c4225426_omim_188470 Thyroid cancer, nonmedullary, 2 MONDO:MONDO:0008566,MedGen:C4225426,OMIM:188470 1 1 1.0000 condition_record_support_limited 20 0 1 Thyroid_cancer,_nonmedullary,_2 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAS mondo_mondo_0022096_medgen_c0085653 Pyogenic granuloma MONDO:MONDO:0022096,MedGen:C0085653 1 1 1.0000 condition_record_support_limited 20 0 0 Pyogenic_granuloma 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAS human_phenotype_ontology_hp_0030358_mondo_mondo_0005233_mesh_d002289_medgen_c0007131 Non-small cell lung carcinoma Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131 1 1 1.0000 condition_record_support_limited 20 0 1 Non-small_cell_lung_carcinoma 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAS mondo_mondo_0009578_medgen_c0544862_omim_249400_orphanet_2481 Neurocutaneous melanocytosis MONDO:MONDO:0009578,MedGen:C0544862,OMIM:249400,Orphanet:2481 1 1 1.0000 condition_record_support_limited 20 0 1 Neurocutaneous_melanocytosis 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAS myelodysplastic_syndrome_progressed_to_acute_myeloid_leukemia Myelodysplastic syndrome progressed to acute myeloid leukemia . 1 1 1.0000 condition_record_support_limited 20 0 1 Myelodysplastic_syndrome_progressed_to_acute_myeloid_leukemia 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAS human_phenotype_ontology_hp_0010880_medgen_c4023676 Increased nuchal translucency Human_Phenotype_Ontology:HP:0010880,MedGen:C4023676 1 1 1.0000 condition_record_support_limited 20 0 1 Increased_nuchal_translucency 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAS human_phenotype_ontology_hp_0005506_human_phenotype_ontology_hp_0005544_mondo_mondo_0011996_mesh_d015464_medgen_c0279543_omim_608232_orphanet_521 Chronic myelogenous leukemia, BCR-ABL1 positive Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521 1 1 1.0000 condition_record_support_limited 20 0 1 Chronic_myelogenous_leukemia,_BCR-ABL1_positive 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAS mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 1 1 1.0000 condition_record_support_limited 20 0 1 Carcinoma_of_colon 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAS human_phenotype_ontology_hp_0001903_human_phenotype_ontology_hp_0001926_human_phenotype_ontology_hp_0003136_human_phenotype_ontology_hp_0005509_mondo_mondo_0002280_medgen_c0002871 Anemia Human_Phenotype_Ontology:HP:0001903,Human_Phenotype_Ontology:HP:0001926,Human_Phenotype_Ontology:HP:0003136,Human_Phenotype_Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871 1 1 1.0000 condition_record_support_limited 20 0 1 Anemia 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAS human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Acute myeloid leukemia Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_myeloid_leukemia 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAS mondo_mondo_0020526_medgen_c5925108_orphanet_99887 Acute megakaryoblastic leukemia in down syndrome MONDO:MONDO:0020526,MedGen:C5925108,Orphanet:99887 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_megakaryoblastic_leukemia_in_down_syndrome 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NRAP efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_dilated_cardiomyopathy 10 low_record_burden_interpretation_limited low_record_burden_gene NRAP mondo_mondo_0032609_medgen_c4748753_omim_618225 Mitochondrial complex I deficiency, nuclear type 4 MONDO:MONDO:0032609,MedGen:C4748753,OMIM:618225 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_I_deficiency,_nuclear_type_4 10 low_record_burden_interpretation_limited low_record_burden_gene NR6A1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene NR6A1 mondo_mondo_0016764_medgen_c5679828_orphanet_2542 Isolated anophthalmia-microphthalmia syndrome MONDO:MONDO:0016764,MedGen:C5679828,Orphanet:2542 1 1 1.0000 condition_record_support_limited 20 0 1 Isolated_anophthalmia-microphthalmia_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene NR5A1 differences_in_sex_development Differences in sex development . 1 1 1.0000 condition_record_support_limited 20 0 0 Differences_in_sex_development 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR5A1 autosomal_dominant_nr5a1_related_disorders Autosomal dominant NR5A1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_NR5A1-related_disorders 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR5A1 medgen_c4479664 ADRENAL INSUFFICIENCY, NR5A1-RELATED MedGen:C4479664 1 1 1.0000 condition_record_support_limited 20 0 1 ADRENAL_INSUFFICIENCY,_NR5A1-RELATED 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR5A1 mondo_mondo_0016674_medgen_c4510744_orphanet_251510 46,XY partial gonadal dysgenesis MONDO:MONDO:0016674,MedGen:C4510744,Orphanet:251510 1 1 1.0000 condition_record_support_limited 20 0 0 46,XY_partial_gonadal_dysgenesis 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR4A2 mondo_mondo_0008199_medgen_c3160718_omim_168600_orphanet_411602 Parkinson disease, late-onset MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600,Orphanet:411602 1 1 1.0000 condition_record_support_limited 20 0 0 Parkinson_disease,_late-onset 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR4A2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR4A2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR4A2 nr4a2_related_disorder NR4A2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 NR4A2-related_disorder 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR4A2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR4A2 mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 0 Epilepsy 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR4A2 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_disorder 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR4A2 mondo_mondo_0100038_medgen_c5568766_orphanet_528084 Complex neurodevelopmental disorder MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 1 1 1.0000 condition_record_support_limited 20 0 0 Complex_neurodevelopmental_disorder 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR4A2 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR3C2 human_phenotype_ontology_hp_0008228_human_phenotype_ontology_hp_0008242_mondo_mondo_0018638_medgen_c0033805_orphanet_444916 Pseudohypoaldosteronism Human_Phenotype_Ontology:HP:0008228,Human_Phenotype_Ontology:HP:0008242,MONDO:MONDO:0018638,MedGen:C0033805,Orphanet:444916 1 1 1.0000 condition_record_support_limited 20 0 0 Pseudohypoaldosteronism 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR3C1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene NR3C1 medgen_c4016112 GLUCOCORTICOID RESISTANCE, CELLULAR MedGen:C4016112 1 1 1.0000 condition_record_support_limited 20 0 0 GLUCOCORTICOID_RESISTANCE,_CELLULAR 16 low_record_burden_interpretation_limited low_record_burden_gene NR3C1 medgen_c1841973 GLUCOCORTICOID RESISTANCE, ATYPICAL MedGen:C1841973 1 1 1.0000 condition_record_support_limited 20 0 0 GLUCOCORTICOID_RESISTANCE,_ATYPICAL 16 low_record_burden_interpretation_limited low_record_burden_gene NR3C1 mondo_mondo_0009255_medgen_c0268155_omim_230200_orphanet_352_orphanet_79237 Deficiency of galactokinase MONDO:MONDO:0009255,MedGen:C0268155,OMIM:230200,Orphanet:352,Orphanet:79237 1 1 1.0000 condition_record_support_limited 20 0 0 Deficiency_of_galactokinase 16 low_record_burden_interpretation_limited low_record_burden_gene NR2F2 nr2f2_related_disorder NR2F2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 NR2F2-related_disorder 35 compact_adjacent_exon_block_opportunity local_compact_architecture NR2F2 nr2f2_releated_disorders NR2F2-Releated Disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 NR2F2-Releated_Disorders 35 compact_adjacent_exon_block_opportunity local_compact_architecture NR2F2 medgen_c3805326 Congenital heart disease (variable) MedGen:C3805326 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_heart_disease_(variable) 35 compact_adjacent_exon_block_opportunity local_compact_architecture NR2F2 human_phenotype_ontology_hp_0001746_medgen_c5779621 Asplenia Human_Phenotype_Ontology:HP:0001746,MedGen:C5779621 1 1 1.0000 condition_record_support_limited 20 0 1 Asplenia 35 compact_adjacent_exon_block_opportunity local_compact_architecture NR2F2 mondo_mondo_0020040_medgen_c2751824_orphanet_98085 46,XY disorder of sex development MONDO:MONDO:0020040,MedGen:C2751824,Orphanet:98085 1 1 1.0000 condition_record_support_limited 20 0 0 46,XY_disorder_of_sex_development 35 compact_adjacent_exon_block_opportunity local_compact_architecture NR2F1-AS1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 79 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture NR2F1-AS1 nr2f1_related_disorder NR2F1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 NR2F1-related_disorder 79 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture NR2F1 human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 1.0000 condition_record_support_limited 20 0 0 Optic_atrophy 118 compact_adjacent_exon_block_opportunity local_compact_architecture NR2F1 nr2f1_related_disorder NR2F1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 NR2F1-related_disorder 118 compact_adjacent_exon_block_opportunity local_compact_architecture NR2F1 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 118 compact_adjacent_exon_block_opportunity local_compact_architecture NR2E3 human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Visual impairment Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 1.0000 condition_record_support_limited 20 0 1 Visual_impairment 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR2E3 human_phenotype_ontology_hp_0001107_human_phenotype_ontology_hp_0007745_human_phenotype_ontology_hp_0007837_mondo_mondo_0017304_mesh_d016117_medgen_c0078917_orphanet_284804 Ocular albinism Human_Phenotype_Ontology:HP:0001107,Human_Phenotype_Ontology:HP:0007745,Human_Phenotype_Ontology:HP:0007837,MONDO:MONDO:0017304,MeSH:D016117,MedGen:C0078917,Orphanet:284804 1 1 1.0000 condition_record_support_limited 20 0 1 Ocular_albinism 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR2E3 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 1 Leber_congenital_amaurosis 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR2E3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR2E3 human_phenotype_ontology_hp_0000666_medgen_c0271385 Horizontal nystagmus Human_Phenotype_Ontology:HP:0000666,MedGen:C0271385 1 1 1.0000 condition_record_support_limited 20 0 1 Horizontal_nystagmus 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR2E3 human_phenotype_ontology_hp_0000551_medgen_c0234629 Color vision defect Human_Phenotype_Ontology:HP:0000551,MedGen:C0234629 1 1 1.0000 condition_record_support_limited 20 0 1 Color_vision_defect 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR2E3 medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_retinitis_pigmentosa 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR2E3 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_eye 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NR2C2AP mondo_mondo_0008855_medgen_c5447452_omim_ps209920_orphanet_572 MHC class II deficiency MONDO:MONDO:0008855,MedGen:C5447452,OMIM:PS209920,Orphanet:572 1 1 1.0000 condition_record_support_limited 20 0 0 MHC_class_II_deficiency 1 low_record_burden_interpretation_limited low_record_burden_gene NR2C1 human_phenotype_ontology_hp_0001371_human_phenotype_ontology_hp_0001372_human_phenotype_ontology_hp_0001381_human_phenotype_ontology_hp_0005053_human_phenotype_ontology_hp_0005189_human_phenotype_ontology_hp_0005660_medgen_c0333068 Flexion contracture Human_Phenotype_Ontology:HP:0001371,Human_Phenotype_Ontology:HP:0001372,Human_Phenotype_Ontology:HP:0001381,Human_Phenotype_Ontology:HP:0005053,Human_Phenotype_Ontology:HP:0005189,Human_Phenotype_Ontology:HP:0005660,MedGen:C0333068 1 1 1.0000 condition_record_support_limited 20 0 0 Flexion_contracture 1 low_record_burden_interpretation_limited low_record_burden_gene NR1H3 mondo_mondo_0005301_medgen_c0026769 Multiple sclerosis MONDO:MONDO:0005301,MedGen:C0026769 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_sclerosis 1 low_record_burden_interpretation_limited low_record_burden_gene NR1D2 mondo_mondo_0020290_medgen_cn029142_omim_ps606215_orphanet_98722 Familial atrioventricular septal defect MONDO:MONDO:0020290,MedGen:CN029142,OMIM:PS606215,Orphanet:98722 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_atrioventricular_septal_defect 1 low_record_burden_interpretation_limited low_record_burden_gene NR1D1 mondo_mondo_0013757_medgen_c3280817_omim_614450_orphanet_97927 Congenital nongoitrous hypothyroidism 6 MONDO:MONDO:0013757,MedGen:C3280817,OMIM:614450,Orphanet:97927 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_nongoitrous_hypothyroidism_6 1 low_record_burden_interpretation_limited low_record_burden_gene NR0B2 medgen_c4016893 Obesity, mild, early-onset MedGen:C4016893 1 1 1.0000 condition_record_support_limited 20 0 0 Obesity,_mild,_early-onset 4 low_record_burden_interpretation_limited low_record_burden_gene NR0B2 mondo_mondo_0019182_medgen_c4054476_omim_601665_orphanet_77828 Inherited obesity MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828 1 1 1.0000 condition_record_support_limited 20 0 0 Inherited_obesity 4 low_record_burden_interpretation_limited low_record_burden_gene NR0B1 differences_in_sex_development Differences in sex development . 1 1 1.0000 condition_record_support_limited 20 0 1 Differences_in_sex_development 124 compact_adjacent_exon_block_opportunity local_compact_architecture NPTX1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene NPTX1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 6 low_record_burden_interpretation_limited low_record_burden_gene NPTN nptn_associated_neurodevelopmental_disorder NPTN-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 NPTN-associated_neurodevelopmental_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene NPRL3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPRL3 mondo_mondo_0024556_medgen_c4551983_omim_604364 Epilepsy, familial focal, with variable foci 1 MONDO:MONDO:0024556,MedGen:C4551983,OMIM:604364 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy,_familial_focal,_with_variable_foci_1 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPRL2 human_phenotype_ontology_hp_0002643_medgen_c4281993 Neonatal respiratory distress Human_Phenotype_Ontology:HP:0002643,MedGen:C4281993 1 1 1.0000 condition_record_support_limited 20 0 0 Neonatal_respiratory_distress 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPRL2 nprl2_related_disorder NPRL2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 NPRL2-related_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPRL2 mondo_mondo_0020310_medgen_c1858477_omim_ps604364_orphanet_98820 Familial focal epilepsy with variable foci MONDO:MONDO:0020310,MedGen:C1858477,OMIM:PS604364,Orphanet:98820 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_focal_epilepsy_with_variable_foci 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPR3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene NPR2 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPR2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPR2 human_phenotype_ontology_hp_0003498_human_phenotype_ontology_hp_0008895_human_phenotype_ontology_hp_0008900_medgen_c0878659 Disproportionate short stature Human_Phenotype_Ontology:HP:0003498,Human_Phenotype_Ontology:HP:0008895,Human_Phenotype_Ontology:HP:0008900,MedGen:C0878659 1 1 1.0000 condition_record_support_limited 20 0 0 Disproportionate_short_stature 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPPA mondo_mondo_0012816_medgen_c2677294_omim_612201 Atrial fibrillation, familial, 6 MONDO:MONDO:0012816,MedGen:C2677294,OMIM:612201 1 1 1.0000 condition_record_support_limited 20 0 0 Atrial_fibrillation,_familial,_6 1 low_record_burden_interpretation_limited low_record_burden_gene NPNT human_phenotype_ontology_hp_0010958_mondo_mondo_0015986_medgen_c1609433_orphanet_1848 Bilateral renal agenesis Human_Phenotype_Ontology:HP:0010958,MONDO:MONDO:0015986,MedGen:C1609433,Orphanet:1848 1 1 1.0000 condition_record_support_limited 20 0 0 Bilateral_renal_agenesis 1 low_record_burden_interpretation_limited low_record_burden_gene NPM1 npm1_related_disorder NPM1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 NPM1-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene NPM1 myelodysplastic_syndrome_progressed_to_acute_myeloid_leukemia Myelodysplastic syndrome progressed to acute myeloid leukemia . 1 1 1.0000 condition_record_support_limited 20 0 1 Myelodysplastic_syndrome_progressed_to_acute_myeloid_leukemia 8 low_record_burden_interpretation_limited low_record_burden_gene NPM1 mondo_mondo_0019456_medgen_c1292773_orphanet_86845 Acute myeloid leukemia with multilineage dysplasia MONDO:MONDO:0019456,MedGen:C1292773,Orphanet:86845 1 1 1.0000 condition_record_support_limited 20 0 0 Acute_myeloid_leukemia_with_multilineage_dysplasia 8 low_record_burden_interpretation_limited low_record_burden_gene NPHS2 human_phenotype_ontology_hp_0000093_mondo_mondo_0003634_medgen_c0033687 Proteinuria Human_Phenotype_Ontology:HP:0000093,MONDO:MONDO:0003634,MedGen:C0033687 1 1 1.0000 condition_record_support_limited 20 0 1 Proteinuria 158 compact_adjacent_exon_block_opportunity local_compact_architecture NPHS2 mondo_mondo_0009732_medgen_c0403399_omim_256300_orphanet_839 Finnish congenital nephrotic syndrome MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839 1 1 1.0000 condition_record_support_limited 20 0 1 Finnish_congenital_nephrotic_syndrome 158 compact_adjacent_exon_block_opportunity local_compact_architecture NPHS2 mondo_mondo_0019006_medgen_c4273714_orphanet_656 Familial idiopathic steroid-resistant nephrotic syndrome MONDO:MONDO:0019006,MedGen:C4273714,Orphanet:656 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_idiopathic_steroid-resistant_nephrotic_syndrome 158 compact_adjacent_exon_block_opportunity local_compact_architecture NPHS1 human_phenotype_ontology_hp_0012588_mondo_mondo_0044765_medgen_c0403397 Steroid-resistant nephrotic syndrome Human_Phenotype_Ontology:HP:0012588,MONDO:MONDO:0044765,MedGen:C0403397 1 1 1.0000 condition_record_support_limited 20 0 1 Steroid-resistant_nephrotic_syndrome 468 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHS1 human_phenotype_ontology_hp_0012593_medgen_c0445118 Nephrotic range proteinuria Human_Phenotype_Ontology:HP:0012593,MedGen:C0445118 1 1 1.0000 condition_record_support_limited 20 0 1 Nephrotic_range_proteinuria 468 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHS1 congenital_and_infantile_nephrotic_syndrome Congenital and infantile nephrotic syndrome MedGen:CN276685 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_and_infantile_nephrotic_syndrome 468 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP4 human_phenotype_ontology_hp_0000789_mondo_mondo_0005047_medgen_c0021359 Infertility disorder Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359 1 1 1.0000 condition_record_support_limited 20 0 1 Infertility_disorder 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP4 medgen_c1135954 Incidental Discovery MedGen:C1135954 1 1 1.0000 condition_record_support_limited 20 0 0 Incidental_Discovery 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP4 cerebello_oculo_renal_syndrome_nephronophthisis_oculomotor_apraxia_and_cerebellar_abnormalities Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities) . 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebello-oculo-renal_syndrome_(nephronophthisis,_oculomotor_apraxia_and_cerebellar_abnormalities) 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP3 human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Polycystic kidney disease Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 1 1 1.0000 condition_record_support_limited 20 0 1 Polycystic_kidney_disease 161 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP3 human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 1.0000 condition_record_support_limited 20 0 0 Optic_atrophy 161 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 161 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP3 human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 1.0000 condition_record_support_limited 20 0 0 Focal_segmental_glomerulosclerosis 161 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP3 fibrotic_kidney_disease Fibrotic kidney disease . 1 1 1.0000 condition_record_support_limited 20 0 0 Fibrotic_kidney_disease 161 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP3 mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_anomaly_of_kidney_and_urinary_tract 161 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPHP1 mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_anomaly_of_kidney_and_urinary_tract 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPC2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 59 compact_adjacent_exon_block_opportunity local_compact_architecture NPC2 mondo_mondo_0001982_medgen_c0028064 Sphingomyelin/cholesterol lipidosis MONDO:MONDO:0001982,MedGen:C0028064 1 1 1.0000 condition_record_support_limited 20 0 0 Sphingomyelin/cholesterol_lipidosis 59 compact_adjacent_exon_block_opportunity local_compact_architecture NPC2 mondo_mondo_0009757_medgen_c3179455_omim_257220_orphanet_646 Niemann-Pick disease, type C1 MONDO:MONDO:0009757,MedGen:C3179455,OMIM:257220,Orphanet:646 1 1 1.0000 condition_record_support_limited 20 0 1 Niemann-Pick_disease,_type_C1 59 compact_adjacent_exon_block_opportunity local_compact_architecture NPC1 mondo_mondo_0011873_medgen_c1843366_omim_607625_orphanet_646 Niemann-Pick disease, type C2 MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625,Orphanet:646 1 1 1.0000 condition_record_support_limited 20 0 0 Niemann-Pick_disease,_type_C2 634 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPC1 mondo_mondo_0002561_medgen_c0085078_orphanet_68366 Lysosomal storage disease MONDO:MONDO:0002561,MedGen:C0085078,Orphanet:68366 1 1 1.0000 condition_record_support_limited 20 0 1 Lysosomal_storage_disease 634 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPC1 human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 1.0000 condition_record_support_limited 20 0 0 Dystonic_disorder 634 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NPAS2 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 1.0000 condition_record_support_limited 20 0 0 Non-obstructive_azoospermia 1 low_record_burden_interpretation_limited low_record_burden_gene NOVA2 human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 13 low_record_burden_interpretation_limited low_record_burden_gene NOVA2 nova2_related_disorder NOVA2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 NOVA2-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene NOVA2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 13 low_record_burden_interpretation_limited low_record_burden_gene NOTCH3 mondo_mondo_0004648_mesh_d015140_medgen_c0011269 Vascular dementia MONDO:MONDO:0004648,MeSH:D015140,MedGen:C0011269 1 1 1.0000 condition_record_support_limited 20 0 1 Vascular_dementia 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH3 human_phenotype_ontology_hp_0012228_medgen_c0033893 Tension-type headache Human_Phenotype_Ontology:HP:0012228,MedGen:C0033893 1 1 1.0000 condition_record_support_limited 20 0 1 Tension-type_headache 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH3 human_phenotype_ontology_hp_0007236_medgen_c4024918 Recurrent subcortical infarcts Human_Phenotype_Ontology:HP:0007236,MedGen:C4024918 1 1 1.0000 condition_record_support_limited 20 0 1 Recurrent_subcortical_infarcts 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH3 human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Prostate cancer Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 1 1 1.0000 condition_record_support_limited 20 0 1 Prostate_cancer 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH3 human_phenotype_ontology_hp_0006856_human_phenotype_ontology_hp_0007272_medgen_c1856565 Progressive psychomotor deterioration Human_Phenotype_Ontology:HP:0006856,Human_Phenotype_Ontology:HP:0007272,MedGen:C1856565 1 1 1.0000 condition_record_support_limited 20 0 0 Progressive_psychomotor_deterioration 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH3 mondo_mondo_0009227_medgen_c4551572_omim_228550_orphanet_2591 Myofibromatosis, infantile, 1 MONDO:MONDO:0009227,MedGen:C4551572,OMIM:228550,Orphanet:2591 1 1 1.0000 condition_record_support_limited 20 0 1 Myofibromatosis,_infantile,_1 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH3 human_phenotype_ontology_hp_0002083_mondo_mondo_0100431_medgen_c0338480 Migraine without aura Human_Phenotype_Ontology:HP:0002083,MONDO:MONDO:0100431,MedGen:C0338480 1 1 1.0000 condition_record_support_limited 20 0 1 Migraine_without_aura 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH3 human_phenotype_ontology_hp_0002128_human_phenotype_ontology_hp_0002129_human_phenotype_ontology_hp_0002302_human_phenotype_ontology_hp_0002337_human_phenotype_ontology_hp_0002441_human_phenotype_ontology_hp_0006972_human_phenotype_ontology_hp_0006998_human_phenotype_ontology_hp_0007211_human_phenotype_ontology_hp_0100543_medgen_c0338656 Cognitive impairment Human_Phenotype_Ontology:HP:0002128,Human_Phenotype_Ontology:HP:0002129,Human_Phenotype_Ontology:HP:0002302,Human_Phenotype_Ontology:HP:0002337,Human_Phenotype_Ontology:HP:0002441,Human_Phenotype_Ontology:HP:0006972,Human_Phenotype_Ontology:HP:0006998,Human_Phenotype_Ontology:HP:0007211,Human_Phenotype_Ontology:HP:0100543,MedGen:C0338656 1 1 1.0000 condition_record_support_limited 20 0 1 Cognitive_impairment 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH3 mondo_mondo_0006693_medgen_c0007774 Cerebral arterial disease MONDO:MONDO:0006693,MedGen:C0007774 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_arterial_disease 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH3 human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Atypical behavior Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 1 1 1.0000 condition_record_support_limited 20 0 1 Atypical_behavior 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH3 adult_onset_neurodegenerative_disorder Adult onset neurodegenerative disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 Adult_onset_neurodegenerative_disorder 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH3 mondo_mondo_0014459_medgen_c4014970_omim_616028_orphanet_974 Adams-Oliver syndrome 5 MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028,Orphanet:974 1 1 1.0000 condition_record_support_limited 20 0 1 Adams-Oliver_syndrome_5 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH3 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_morphology 315 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH2 medgen_c2698259 Monoclonal B-Cell Lymphocytosis MedGen:C2698259 1 1 1.0000 condition_record_support_limited 20 0 1 Monoclonal_B-Cell_Lymphocytosis 98 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH2 human_phenotype_ontology_hp_0031525_mondo_mondo_0002527_mesh_d007636_medgen_c0022572 Keratoacanthoma Human_Phenotype_Ontology:HP:0031525,MONDO:MONDO:0002527,MeSH:D007636,MedGen:C0022572 1 1 1.0000 condition_record_support_limited 20 0 0 Keratoacanthoma 98 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH2 ka_like_vemurafenib_induced_squamous_lesions KA-like vemurafenib-induced squamous lesions . 1 1 1.0000 condition_record_support_limited 20 0 0 KA-like_vemurafenib-induced_squamous_lesions 98 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 98 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH1 human_phenotype_ontology_hp_0001636_mondo_mondo_0008542_medgen_c0039685_omim_187500_orphanet_3303 Tetralogy of Fallot Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303 1 1 1.0000 condition_record_support_limited 20 0 0 Tetralogy_of_Fallot 163 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH1 mondo_mondo_0100291_medgen_c4329780 Early T cell progenitor acute lymphoblastic leukemia MONDO:MONDO:0100291,MedGen:C4329780 1 1 1.0000 condition_record_support_limited 20 0 0 Early_T_cell_progenitor_acute_lymphoblastic_leukemia 163 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH1 autosomal_dominant_notch1_related_disorders Autosomal dominant NOTCH1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_NOTCH1-related_disorders 163 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH1 mondo_mondo_0007034_medgen_c0265268_omim_ps100300_orphanet_974 Adams-Oliver syndrome MONDO:MONDO:0007034,MedGen:C0265268,OMIM:PS100300,Orphanet:974 1 1 1.0000 condition_record_support_limited 20 0 0 Adams-Oliver_syndrome 163 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOTCH1 human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Abnormal cardiovascular system morphology Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_cardiovascular_system_morphology 163 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NOP56 mondo_mondo_0013594_medgen_c3472711_omim_614153_orphanet_276198 Spinocerebellar ataxia type 36 MONDO:MONDO:0013594,MedGen:C3472711,OMIM:614153,Orphanet:276198 1 1 1.0000 condition_record_support_limited 20 0 0 Spinocerebellar_ataxia_type_36 1 low_record_burden_interpretation_limited low_record_burden_gene NOP10 mondo_mondo_0958193_medgen_c5830590_omim_620425 Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 MONDO:MONDO:0958193,MedGen:C5830590,OMIM:620425 1 1 1.0000 condition_record_support_limited 20 0 0 Cataracts,_hearing_impairment,_nephrotic_syndrome,_and_enterocolitis_2 1 low_record_burden_interpretation_limited low_record_burden_gene NONO non_ossifying_fibromas_with_pathologic_factures_and_x_linked_intellectual_disability Non-ossifying fibromas with pathologic factures and X-linked intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 0 Non-ossifying_fibromas_with_pathologic_factures_and_X-linked_intellectual_disability 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NONO human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NONO human_phenotype_ontology_hp_0002885_mondo_mondo_0007959_mesh_d008527_medgen_c0025149_omim_155255_orphanet_616 Medulloblastoma Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616 1 1 1.0000 condition_record_support_limited 20 0 1 Medulloblastoma 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NONO human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 1.0000 condition_record_support_limited 20 0 0 Heart,_malformation_of 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NOG nog_related_symphlangism_spectrum_disorder NOG-related-symphlangism spectrum disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 NOG-related-symphlangism_spectrum_disorder 50 single_exon_hotspot_opportunity local_compact_architecture NOG mondo_mondo_0034022_medgen_c4225313_omim_616471_orphanet_536516_orphanet_610 Bethlem myopathy 2 MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471,Orphanet:536516,Orphanet:610 1 1 1.0000 condition_record_support_limited 20 0 0 Bethlem_myopathy_2 50 single_exon_hotspot_opportunity local_compact_architecture NODAL mondo_mondo_0018677_medgen_c3178805_omim_ps306955_orphanet_450 Visceral heterotaxy MONDO:MONDO:0018677,MedGen:C3178805,OMIM:PS306955,Orphanet:450 1 1 1.0000 condition_record_support_limited 20 0 1 Visceral_heterotaxy 16 low_record_burden_interpretation_limited low_record_burden_gene NODAL nodal_related_disorder NODAL-related disorder MedGen:CN239298 1 1 1.0000 condition_record_support_limited 20 0 0 NODAL-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene NOD2 mondo_mondo_0009960_medgen_cn260071_omim_266600 Inflammatory bowel disease 1 MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600 1 1 1.0000 condition_record_support_limited 20 0 0 Inflammatory_bowel_disease_1 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NOD2 mondo_mondo_0019751_medgen_c3890737_orphanet_93665 Autoinflammatory syndrome MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 1 1 1.0000 condition_record_support_limited 20 0 0 Autoinflammatory_syndrome 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NOC3L mondo_mondo_0012546_medgen_c1853124_omim_610725_orphanet_656 Nephrotic syndrome, type 3 MONDO:MONDO:0012546,MedGen:C1853124,OMIM:610725,Orphanet:656 1 1 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome,_type_3 3 low_record_burden_interpretation_limited low_record_burden_gene NOBOX mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 15 low_record_burden_interpretation_limited low_record_burden_gene NOBOX nobox_related_disorder NOBOX-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 NOBOX-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene NMNAT2 condition_not_provided condition not provided MedGen:CN169374 1 1 1.0000 condition_record_support_limited 20 1 0 not_specified 2 low_record_burden_interpretation_limited low_record_burden_gene NMNAT2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 2 low_record_burden_interpretation_limited low_record_burden_gene NMNAT1 autosomal_recessive_nmnat1_related_disorders autosomal recessive NMNAT1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 autosomal_recessive_NMNAT1-related_disorders. 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NMNAT1 human_phenotype_ontology_hp_0001141_human_phenotype_ontology_hp_0007640_human_phenotype_ontology_hp_0007842_human_phenotype_ontology_hp_0007951_human_phenotype_ontology_hp_0008023_medgen_c1301509 Severely reduced visual acuity Human_Phenotype_Ontology:HP:0001141,Human_Phenotype_Ontology:HP:0007640,Human_Phenotype_Ontology:HP:0007842,Human_Phenotype_Ontology:HP:0007951,Human_Phenotype_Ontology:HP:0008023,MedGen:C1301509 1 1 1.0000 condition_record_support_limited 20 0 1 Severely_reduced_visual_acuity 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NMNAT1 human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 1.0000 condition_record_support_limited 20 0 1 Nystagmus 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NMNAT1 mondo_mondo_0800101_medgen_cn315671 NMNAT1-related retinopathy MONDO:MONDO:0800101,MedGen:CN315671 1 1 1.0000 condition_record_support_limited 20 0 0 NMNAT1-related_retinopathy 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NMNAT1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NMNAT1 human_phenotype_ontology_hp_0002579_medgen_c1836923 Gastrointestinal dysmotility Human_Phenotype_Ontology:HP:0002579,MedGen:C1836923 1 1 1.0000 condition_record_support_limited 20 0 1 Gastrointestinal_dysmotility 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NMNAT1 human_phenotype_ontology_hp_0002014_medgen_c0011991 Diarrhea Human_Phenotype_Ontology:HP:0002014,MedGen:C0011991 1 1 1.0000 condition_record_support_limited 20 0 1 Diarrhea 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NMNAT1 human_phenotype_ontology_hp_0002376_human_phenotype_ontology_hp_0002471_human_phenotype_ontology_hp_0002489_human_phenotype_ontology_hp_0006797_human_phenotype_ontology_hp_0006828_human_phenotype_ontology_hp_0006854_human_phenotype_ontology_hp_0007037_human_phenotype_ontology_hp_0007242_human_phenotype_ontology_hp_0007247_medgen_c1836830 Developmental regression Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_regression 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NMNAT1 mondo_mondo_0000455_medgen_c0730290_orphanet_1871 Cone dystrophy MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 1.0000 condition_record_support_limited 20 0 1 Cone_dystrophy 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NLRP7 mondo_mondo_0980964_medgen_cn380832_omim_621471 Oocyte/zygote/embryo maturation arrest 25 MONDO:MONDO:0980964,MedGen:CN380832,OMIM:621471 1 1 1.0000 condition_record_support_limited 20 0 0 Oocyte/zygote/embryo_maturation_arrest_25 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NLRP7 nlrp7_related_disorder NLRP7-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 NLRP7-related_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NLRP5 human_phenotype_ontology_hp_0032479_medgen_c5139371 Preimplantation lethality Human_Phenotype_Ontology:HP:0032479,MedGen:C5139371 1 1 1.0000 condition_record_support_limited 20 0 0 Preimplantation_lethality 12 low_record_burden_interpretation_limited low_record_burden_gene NLRP3 human_phenotype_ontology_hp_0002202_medgen_c0032227 Pleural effusion Human_Phenotype_Ontology:HP:0002202,MedGen:C0032227 1 1 1.0000 condition_record_support_limited 20 0 1 Pleural_effusion 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NLRP3 human_phenotype_ontology_hp_0001698_mondo_mondo_0001370_medgen_c0031039 Pericardial effusion Human_Phenotype_Ontology:HP:0001698,MONDO:MONDO:0001370,MedGen:C0031039 1 1 1.0000 condition_record_support_limited 20 0 1 Pericardial_effusion 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NLRP3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NLRP3 human_phenotype_ontology_hp_0001945_medgen_c0015967 Fever Human_Phenotype_Ontology:HP:0001945,MedGen:C0015967 1 1 1.0000 condition_record_support_limited 20 0 1 Fever 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NLRP3 human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Cerebral arteriovenous malformation Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_arteriovenous_malformation 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NLRP12 mondo_mondo_0019751_medgen_c3890737_orphanet_93665 Autoinflammatory syndrome MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 1 1 1.0000 condition_record_support_limited 20 0 1 Autoinflammatory_syndrome 12 low_record_burden_interpretation_limited low_record_burden_gene NLRP1 mondo_mondo_0032925_medgen_c5394112_omim_618803 Respiratory papillomatosis, juvenile recurrent, congenital MONDO:MONDO:0032925,MedGen:C5394112,OMIM:618803 1 1 1.0000 condition_record_support_limited 20 0 0 Respiratory_papillomatosis,_juvenile_recurrent,_congenital 5 low_record_burden_interpretation_limited low_record_burden_gene NLRP1 mondo_mondo_0060457_medgen_c4479278_omim_617388 Autoinflammation with arthritis and dyskeratosis MONDO:MONDO:0060457,MedGen:C4479278,OMIM:617388 1 1 1.0000 condition_record_support_limited 20 0 1 Autoinflammation_with_arthritis_and_dyskeratosis 5 low_record_burden_interpretation_limited low_record_burden_gene NLRC4 syndrome_of_entercolitis_and_autoinflmmation_caused_by_mutation_of_nlrc4_scan4 Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) MedGen:CN207522 1 1 1.0000 condition_record_support_limited 20 0 1 Syndrome_of_entercolitis_and_autoinflmmation_caused_by_mutation_of_NLRC4_(SCAN4) 14 low_record_burden_interpretation_limited low_record_burden_gene NLGN4X mondo_mondo_0100284_medgen_c1136249 X-linked intellectual disability MONDO:MONDO:0100284,MedGen:C1136249 1 1 1.0000 condition_record_support_limited 20 0 1 X-linked_intellectual_disability 9 low_record_burden_interpretation_limited low_record_burden_gene NLGN3 mondo_mondo_0100148_medgen_cn294807 X-linked complex neurodevelopmental disorder MONDO:MONDO:0100148,MedGen:CN294807 1 1 1.0000 condition_record_support_limited 20 0 0 X-linked_complex_neurodevelopmental_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene NLGN3 human_phenotype_ontology_hp_0000044_human_phenotype_ontology_hp_0003335_human_phenotype_ontology_hp_0008224_mondo_mondo_0018555_medgen_c0271623_omim_ps147950_orphanet_432 Hypogonadotropic hypogonadism Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432 1 1 1.0000 condition_record_support_limited 20 0 0 Hypogonadotropic_hypogonadism 12 low_record_burden_interpretation_limited low_record_burden_gene NLGN3 human_phenotype_ontology_hp_0000729_medgen_c0856975 Autistic behavior Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 1.0000 condition_record_support_limited 20 0 1 Autistic_behavior 12 low_record_burden_interpretation_limited low_record_burden_gene NLGN2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene NKX3-2 mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 1 1 1.0000 condition_record_support_limited 20 0 0 Connective_tissue_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene NKX2-6 human_phenotype_ontology_hp_0001660_mondo_mondo_0018072_medgen_c0041207_orphanet_3384 Persistent truncus arteriosus Human_Phenotype_Ontology:HP:0001660,MONDO:MONDO:0018072,MedGen:C0041207,Orphanet:3384 1 1 1.0000 condition_record_support_limited 20 0 1 Persistent_truncus_arteriosus 4 low_record_burden_interpretation_limited low_record_burden_gene NKX2-6 human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_palsy 4 low_record_burden_interpretation_limited low_record_burden_gene NKX2-5 efo_the_experimental_factor_ontology_efo_0004287_human_phenotype_ontology_hp_0001663_human_phenotype_ontology_hp_0005166_mondo_mondo_0000190_medgen_c0042510 Ventricular fibrillation EFO:_The_Experimental_Factor_Ontology:EFO_0004287,Human_Phenotype_Ontology:HP:0001663,Human_Phenotype_Ontology:HP:0005166,MONDO:MONDO:0000190,MedGen:C0042510 1 1 1.0000 condition_record_support_limited 20 0 1 Ventricular_fibrillation 125 compact_adjacent_exon_block_opportunity local_compact_architecture NKX2-5 efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 125 compact_adjacent_exon_block_opportunity local_compact_architecture NKX2-5 human_phenotype_ontology_hp_0012817_medgen_c1839832 Noncompaction cardiomyopathy Human_Phenotype_Ontology:HP:0012817,MedGen:C1839832 1 1 1.0000 condition_record_support_limited 20 0 1 Noncompaction_cardiomyopathy 125 compact_adjacent_exon_block_opportunity local_compact_architecture NKX2-5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 125 compact_adjacent_exon_block_opportunity local_compact_architecture NKX2-5 mondo_mondo_0016581_medgen_c1857586_omim_217095_orphanet_2445_orphanet_3384_orphanet_3426 Conotruncal heart malformations MONDO:MONDO:0016581,MedGen:C1857586,OMIM:217095,Orphanet:2445,Orphanet:3384,Orphanet:3426 1 1 1.0000 condition_record_support_limited 20 0 1 Conotruncal_heart_malformations 125 compact_adjacent_exon_block_opportunity local_compact_architecture NKX2-5 human_phenotype_ontology_hp_0001630_human_phenotype_ontology_hp_0001631_mondo_mondo_0006664_medgen_c0018817_omim_ps108800_orphanet_1478 Atrial septal defect Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478 1 1 1.0000 condition_record_support_limited 20 0 1 Atrial_septal_defect 125 compact_adjacent_exon_block_opportunity local_compact_architecture NKX2-2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene NKX2-1 mondo_mondo_0008567_medgen_c4721429_omim_188550 Thyroid cancer, nonmedullary, 1 MONDO:MONDO:0008567,MedGen:C4721429,OMIM:188550 1 1 1.0000 condition_record_support_limited 20 0 1 Thyroid_cancer,_nonmedullary,_1 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NKX2-1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NKX2-1 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NKX2-1 mondo_mondo_0012111_medgen_c1837471_omim_608751 Hypertrophic cardiomyopathy 8 MONDO:MONDO:0012111,MedGen:C1837471,OMIM:608751 1 1 1.0000 condition_record_support_limited 20 0 0 Hypertrophic_cardiomyopathy_8 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NKX2-1 mondo_mondo_0100309_medgen_c0004138_orphanet_183518 Hereditary ataxia MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_ataxia 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NKX2-1 human_phenotype_ontology_hp_0002072_human_phenotype_ontology_hp_0002397_mondo_mondo_0001595_medgen_c0008489_orphanet_1429 Chorea Human_Phenotype_Ontology:HP:0002072,Human_Phenotype_Ontology:HP:0002397,MONDO:MONDO:0001595,MedGen:C0008489,Orphanet:1429 1 1 1.0000 condition_record_support_limited 20 0 1 Chorea 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NKIRAS1 rpl15_related_disorder RPL15-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RPL15-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene NKAP condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene NIT1 susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 2 low_record_burden_interpretation_limited low_record_burden_gene NIT1 mondo_mondo_0979873_medgen_cn379788_omim_621313 Brain small vessel disease 4 MONDO:MONDO:0979873,MedGen:CN379788,OMIM:621313 1 1 1.0000 condition_record_support_limited 20 0 0 Brain_small_vessel_disease_4 2 low_record_burden_interpretation_limited low_record_burden_gene NISCH mondo_mondo_0007356_medgen_c2936783_omim_120435_orphanet_144 Lynch syndrome 1 MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144 1 1 1.0000 condition_record_support_limited 20 0 1 Lynch_syndrome_1 1 low_record_burden_interpretation_limited low_record_burden_gene NISCH mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 1 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 1 Breast-ovarian_cancer,_familial,_susceptibility_to,_1 1 low_record_burden_interpretation_limited low_record_burden_gene NIPSNAP3B mondo_mondo_0008783_medgen_c0039292_omim_205400_orphanet_31150 Tangier disease MONDO:MONDO:0008783,MedGen:C0039292,OMIM:205400,Orphanet:31150 1 1 1.0000 condition_record_support_limited 20 0 1 Tangier_disease 9 low_record_burden_interpretation_limited low_record_burden_gene NIPSNAP3B mondo_mondo_0011393_medgen_c5231558_omim_604091_orphanet_425 Hypoalphalipoproteinemia, primary, 1 MONDO:MONDO:0011393,MedGen:C5231558,OMIM:604091,Orphanet:425 1 1 1.0000 condition_record_support_limited 20 0 0 Hypoalphalipoproteinemia,_primary,_1 9 low_record_burden_interpretation_limited low_record_burden_gene NIPBL human_phenotype_ontology_hp_0000076_human_phenotype_ontology_hp_0005998_human_phenotype_ontology_hp_0006002_human_phenotype_ontology_hp_0008667_mondo_mondo_0006007_medgen_c0042580 Vesicoureteral reflux Human_Phenotype_Ontology:HP:0000076,Human_Phenotype_Ontology:HP:0005998,Human_Phenotype_Ontology:HP:0006002,Human_Phenotype_Ontology:HP:0008667,MONDO:MONDO:0006007,MedGen:C0042580 1 1 1.0000 condition_record_support_limited 20 0 1 Vesicoureteral_reflux 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL human_phenotype_ontology_hp_0001636_mondo_mondo_0008542_medgen_c0039685_omim_187500_orphanet_3303 Tetralogy of Fallot Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303 1 1 1.0000 condition_record_support_limited 20 0 1 Tetralogy_of_Fallot 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL human_phenotype_ontology_hp_0001195_medgen_c1384670 Single umbilical artery Human_Phenotype_Ontology:HP:0001195,MedGen:C1384670 1 1 1.0000 condition_record_support_limited 20 0 1 Single_umbilical_artery 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL human_phenotype_ontology_hp_0001667_medgen_c0162770 Right ventricular hypertrophy Human_Phenotype_Ontology:HP:0001667,MedGen:C0162770 1 1 1.0000 condition_record_support_limited 20 0 1 Right_ventricular_hypertrophy 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL human_phenotype_ontology_hp_0002089_mondo_mondo_0800133_medgen_c0265783 Pulmonary hypoplasia Human_Phenotype_Ontology:HP:0002089,MONDO:MONDO:0800133,MedGen:C0265783 1 1 1.0000 condition_record_support_limited 20 0 1 Pulmonary_hypoplasia 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL human_phenotype_ontology_hp_0001121_human_phenotype_ontology_hp_0001357_medgen_c0265529 Plagiocephaly Human_Phenotype_Ontology:HP:0001121,Human_Phenotype_Ontology:HP:0001357,MedGen:C0265529 1 1 1.0000 condition_record_support_limited 20 0 1 Plagiocephaly 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL human_phenotype_ontology_hp_0003244_medgen_c1691215 Penile hypospadias Human_Phenotype_Ontology:HP:0003244,MedGen:C1691215 1 1 1.0000 condition_record_support_limited 20 0 1 Penile_hypospadias 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Mild intellectual disability Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 1 1 1.0000 condition_record_support_limited 20 0 1 Mild_intellectual_disability 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL human_phenotype_ontology_hp_0000308_medgen_c1839546 Microretrognathia Human_Phenotype_Ontology:HP:0000308,MedGen:C1839546 1 1 1.0000 condition_record_support_limited 20 0 1 Microretrognathia 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL human_phenotype_ontology_hp_0000343_medgen_c1865014 Long philtrum Human_Phenotype_Ontology:HP:0000343,MedGen:C1865014 1 1 1.0000 condition_record_support_limited 20 0 1 Long_philtrum 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL human_phenotype_ontology_hp_0000085_medgen_c0221353 Horseshoe kidney Human_Phenotype_Ontology:HP:0000085,MedGen:C0221353 1 1 1.0000 condition_record_support_limited 20 0 1 Horseshoe_kidney 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL human_phenotype_ontology_hp_0001511_human_phenotype_ontology_hp_0001515_human_phenotype_ontology_hp_0008862_human_phenotype_ontology_hp_0008892_human_phenotype_ontology_hp_0008931_mondo_mondo_0005030_medgen_c0015934 Fetal growth restriction Human_Phenotype_Ontology:HP:0001511,Human_Phenotype_Ontology:HP:0001515,Human_Phenotype_Ontology:HP:0008862,Human_Phenotype_Ontology:HP:0008892,Human_Phenotype_Ontology:HP:0008931,MONDO:MONDO:0005030,MedGen:C0015934 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_growth_restriction 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL human_phenotype_ontology_hp_0000028_human_phenotype_ontology_hp_0000797_mondo_mondo_0009047_medgen_c0010417_omim_219050 Cryptorchidism Human_Phenotype_Ontology:HP:0000028,Human_Phenotype_Ontology:HP:0000797,MONDO:MONDO:0009047,MedGen:C0010417,OMIM:219050 1 1 1.0000 condition_record_support_limited 20 0 1 Cryptorchidism 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL human_phenotype_ontology_hp_0000776_human_phenotype_ontology_hp_0006604_mondo_mondo_0005711_mesh_d065630_medgen_c0235833_omim_ps142340_orphanet_2140 Congenital diaphragmatic hernia Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_diaphragmatic_hernia 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Cleft palate Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 1.0000 condition_record_support_limited 20 0 1 Cleft_palate 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL human_phenotype_ontology_hp_0001156_human_phenotype_ontology_hp_0001189_human_phenotype_ontology_hp_0001201_human_phenotype_ontology_hp_0005630_human_phenotype_ontology_hp_0005657_human_phenotype_ontology_hp_0005727_human_phenotype_ontology_hp_0006017_human_phenotype_ontology_hp_0006128_human_phenotype_ontology_hp_0100667_mondo_mondo_0021004_medgen_c0221357 Brachydactyly Human_Phenotype_Ontology:HP:0001156,Human_Phenotype_Ontology:HP:0001189,Human_Phenotype_Ontology:HP:0001201,Human_Phenotype_Ontology:HP:0005630,Human_Phenotype_Ontology:HP:0005657,Human_Phenotype_Ontology:HP:0005727,Human_Phenotype_Ontology:HP:0006017,Human_Phenotype_Ontology:HP:0006128,Human_Phenotype_Ontology:HP:0100667,MONDO:MONDO:0021004,MedGen:C0221357 1 1 1.0000 condition_record_support_limited 20 0 1 Brachydactyly 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPBL human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_morphology 581 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NIPAL4 ichthyosis_and_erythrokeratoderma Ichthyosis and erythrokeratoderma . 1 1 1.0000 condition_record_support_limited 20 0 1 Ichthyosis_and_erythrokeratoderma 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NIPAL4 mondo_mondo_0033010_medgen_c4551486_omim_133200_orphanet_317 Erythrokeratodermia variabilis et progressiva 1 MONDO:MONDO:0033010,MedGen:C4551486,OMIM:133200,Orphanet:317 1 1 1.0000 condition_record_support_limited 20 0 0 Erythrokeratodermia_variabilis_et_progressiva_1 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NIPA2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene NIPA1 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_paraplegia 4 low_record_burden_interpretation_limited low_record_burden_gene NIPA1 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia 4 low_record_burden_interpretation_limited low_record_burden_gene NIN mondo_mondo_0012078_medgen_c1837713_omim_608629_orphanet_220493 Joubert syndrome 3 MONDO:MONDO:0012078,MedGen:C1837713,OMIM:608629,Orphanet:220493 1 1 1.0000 condition_record_support_limited 20 0 1 Joubert_syndrome_3 6 low_record_burden_interpretation_limited low_record_burden_gene NID1 condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene NID1 human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Hydrocephalus Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 1.0000 condition_record_support_limited 20 0 1 Hydrocephalus 2 low_record_burden_interpretation_limited low_record_burden_gene NID1 human_phenotype_ontology_hp_0001269_medgen_c0018989 Hemiparesis Human_Phenotype_Ontology:HP:0001269,MedGen:C0018989 1 1 1.0000 condition_record_support_limited 20 0 1 Hemiparesis 2 low_record_burden_interpretation_limited low_record_burden_gene NID1 mondo_mondo_0005384_mesh_d004828_medgen_c0014547 Focal epilepsy MONDO:MONDO:0005384,MeSH:D004828,MedGen:C0014547 1 1 1.0000 condition_record_support_limited 20 0 1 Focal_epilepsy 2 low_record_burden_interpretation_limited low_record_burden_gene NHS mondo_mondo_0020119_medgen_cn228426_omim_ps309510 X-linked syndromic intellectual disability MONDO:MONDO:0020119,MedGen:CN228426,OMIM:PS309510 1 1 1.0000 condition_record_support_limited 20 0 1 X-linked_syndromic_intellectual_disability 76 compact_adjacent_exon_block_opportunity local_compact_architecture NHS x_linked_nhs_related_disorders X-linked NHS-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 X-linked_NHS-related_disorders 76 compact_adjacent_exon_block_opportunity local_compact_architecture NHP2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene NHLRC1 nhlrc1_related_disorder NHLRC1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 NHLRC1-related_disorder 49 single_exon_hotspot_opportunity local_compact_architecture NHLRC1 mondo_mondo_0958199_medgen_cn377204_omim_254780 Myoclonic epilepsy of Lafora 1 MONDO:MONDO:0958199,MedGen:CN377204,OMIM:254780 1 1 1.0000 condition_record_support_limited 20 0 1 Myoclonic_epilepsy_of_Lafora_1 49 single_exon_hotspot_opportunity local_compact_architecture NHEJ1 human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_combined_immunodeficiency_disease 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NHEJ1 mondo_mondo_0975809_medgen_c5975436_omim_620968 Microphthalmia/coloboma 13 MONDO:MONDO:0975809,MedGen:C5975436,OMIM:620968 1 1 1.0000 condition_record_support_limited 20 0 1 Microphthalmia/coloboma_13 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NHEJ1 mondo_mondo_0016764_medgen_c5679828_orphanet_2542 Isolated anophthalmia-microphthalmia syndrome MONDO:MONDO:0016764,MedGen:C5679828,Orphanet:2542 1 1 1.0000 condition_record_support_limited 20 0 1 Isolated_anophthalmia-microphthalmia_syndrome 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NGLY1 human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Peripheral neuropathy Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 1.0000 condition_record_support_limited 20 0 1 Peripheral_neuropathy 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NGLY1 neuromotor_delay Neuromotor delay . 1 1 1.0000 condition_record_support_limited 20 0 1 Neuromotor_delay 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NGLY1 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NGLY1 ngly1_related_disorder NGLY1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 NGLY1-related_disorder 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NGLY1 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NGF condition_not_provided condition not provided MedGen:CN169374 1 1 1.0000 condition_record_support_limited 20 1 1 not_specified 3 low_record_burden_interpretation_limited low_record_burden_gene NGF human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Peripheral neuropathy Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 1.0000 condition_record_support_limited 20 0 1 Peripheral_neuropathy 3 low_record_burden_interpretation_limited low_record_burden_gene NFXL1 mondo_mondo_0044321_medgen_c4479549_omim_617478_orphanet_689822 Structural heart defects and renal anomalies syndrome MONDO:MONDO:0044321,MedGen:C4479549,OMIM:617478,Orphanet:689822 1 1 1.0000 condition_record_support_limited 20 0 0 Structural_heart_defects_and_renal_anomalies_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene NFKB2 nfkb2_related_disorder NFKB2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 NFKB2-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene NFKB2 mondo_mondo_0011864_medgen_c3149378_omim_607594_orphanet_1572_orphanet_695183 Immunodeficiency, common variable, 1 MONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594,Orphanet:1572,Orphanet:695183 1 1 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency,_common_variable,_1 17 low_record_burden_interpretation_limited low_record_burden_gene NFKB2 mondo_mondo_0015517_medgen_c0009447_omim_ps607594_orphanet_1572 Common variable immunodeficiency MONDO:MONDO:0015517,MedGen:C0009447,OMIM:PS607594,Orphanet:1572 1 1 1.0000 condition_record_support_limited 20 0 1 Common_variable_immunodeficiency 17 low_record_burden_interpretation_limited low_record_burden_gene NFKB1 mondo_mondo_0012085_medgen_c1837618_omim_608644_orphanet_244 Primary ciliary dyskinesia 3 MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_ciliary_dyskinesia_3 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIX human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 1.0000 condition_record_support_limited 20 0 1 Strabismus 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIX human_phenotype_ontology_hp_0000440_human_phenotype_ontology_hp_0000449_human_phenotype_ontology_hp_0000450_human_phenotype_ontology_hp_0003192_human_phenotype_ontology_hp_0003195_human_phenotype_ontology_hp_0003196_human_phenotype_ontology_hp_0005270_human_phenotype_ontology_hp_0200092_medgen_c1854114 Short nose Human_Phenotype_Ontology:HP:0000440,Human_Phenotype_Ontology:HP:0000449,Human_Phenotype_Ontology:HP:0000450,Human_Phenotype_Ontology:HP:0003192,Human_Phenotype_Ontology:HP:0003195,Human_Phenotype_Ontology:HP:0003196,Human_Phenotype_Ontology:HP:0005270,Human_Phenotype_Ontology:HP:0200092,MedGen:C1854114 1 1 1.0000 condition_record_support_limited 20 0 1 Short_nose 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIX human_phenotype_ontology_hp_0001170_human_phenotype_ontology_hp_0005668_human_phenotype_ontology_hp_0009623_medgen_c1865572 Proximal placement of thumb Human_Phenotype_Ontology:HP:0001170,Human_Phenotype_Ontology:HP:0005668,Human_Phenotype_Ontology:HP:0009623,MedGen:C1865572 1 1 1.0000 condition_record_support_limited 20 0 1 Proximal_placement_of_thumb 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIX human_phenotype_ontology_hp_0000520_human_phenotype_ontology_hp_0000536_human_phenotype_ontology_hp_0000644_human_phenotype_ontology_hp_0000645_human_phenotype_ontology_hp_0007711_human_phenotype_ontology_hp_0007870_mondo_mondo_0004770_medgen_c0015300 Proptosis Human_Phenotype_Ontology:HP:0000520,Human_Phenotype_Ontology:HP:0000536,Human_Phenotype_Ontology:HP:0000644,Human_Phenotype_Ontology:HP:0000645,Human_Phenotype_Ontology:HP:0007711,Human_Phenotype_Ontology:HP:0007870,MONDO:MONDO:0004770,MedGen:C0015300 1 1 1.0000 condition_record_support_limited 20 0 1 Proptosis 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIX human_phenotype_ontology_hp_0000307_human_phenotype_ontology_hp_0005330_medgen_c1844505 Pointed chin Human_Phenotype_Ontology:HP:0000307,Human_Phenotype_Ontology:HP:0005330,MedGen:C1844505 1 1 1.0000 condition_record_support_limited 20 0 1 Pointed_chin 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIX mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIX human_phenotype_ontology_hp_0011800_human_phenotype_ontology_hp_0040199_medgen_c1853242 Midface retrusion Human_Phenotype_Ontology:HP:0011800,Human_Phenotype_Ontology:HP:0040199,MedGen:C1853242 1 1 1.0000 condition_record_support_limited 20 0 1 Midface_retrusion 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIX human_phenotype_ontology_hp_0000485_human_phenotype_ontology_hp_0007660_mondo_mondo_0009576_medgen_c5574682_omim_249300 Megalocornea Human_Phenotype_Ontology:HP:0000485,Human_Phenotype_Ontology:HP:0007660,MONDO:MONDO:0009576,MedGen:C5574682,OMIM:249300 1 1 1.0000 condition_record_support_limited 20 0 1 Megalocornea 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIX human_phenotype_ontology_hp_0010511_medgen_c3150613 Long toe Human_Phenotype_Ontology:HP:0010511,MedGen:C3150613 1 1 1.0000 condition_record_support_limited 20 0 1 Long_toe 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIX human_phenotype_ontology_hp_0006010_human_phenotype_ontology_hp_0100807_medgen_c1858091 Long fingers Human_Phenotype_Ontology:HP:0006010,Human_Phenotype_Ontology:HP:0100807,MedGen:C1858091 1 1 1.0000 condition_record_support_limited 20 0 1 Long_fingers 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIX human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Hypoplasia of the corpus callosum Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplasia_of_the_corpus_callosum 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIX human_phenotype_ontology_hp_0002705_medgen_c1837404 High, narrow palate Human_Phenotype_Ontology:HP:0002705,MedGen:C1837404 1 1 1.0000 condition_record_support_limited 20 0 1 High,_narrow_palate 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIX human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIX human_phenotype_ontology_hp_0005033_human_phenotype_ontology_hp_0006474_medgen_c1833145 Distal ulnar hypoplasia Human_Phenotype_Ontology:HP:0005033,Human_Phenotype_Ontology:HP:0006474,MedGen:C1833145 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_ulnar_hypoplasia 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIX human_phenotype_ontology_hp_0001601_mondo_mondo_0007878_medgen_c0264303_omim_150280_orphanet_2373 Congenital laryngomalacia Human_Phenotype_Ontology:HP:0001601,MONDO:MONDO:0007878,MedGen:C0264303,OMIM:150280,Orphanet:2373 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_laryngomalacia 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIX human_phenotype_ontology_hp_0000592_medgen_c0542514 Blue sclerae Human_Phenotype_Ontology:HP:0000592,MedGen:C0542514 1 1 1.0000 condition_record_support_limited 20 0 1 Blue_sclerae 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIB marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 1 1 1.0000 condition_record_support_limited 20 0 1 Marfanoid_habitus_and_intellectual_disability 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIA mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIA human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIA human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFIA human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Cleft palate Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 1.0000 condition_record_support_limited 20 0 1 Cleft_palate 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NFE2L2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene NFE2L2 mondo_mondo_0008903_medgen_c0242379_omim_211980 Lung cancer MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 1 1 1.0000 condition_record_support_limited 20 0 0 Lung_cancer 5 low_record_burden_interpretation_limited low_record_burden_gene NFE2L2 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 1 Colorectal_cancer 5 low_record_burden_interpretation_limited low_record_burden_gene NFATC2 mondo_mondo_0859369_medgen_c5774305_omim_620232 Joint contractures, osteochondromas, and B-cell lymphoma MONDO:MONDO:0859369,MedGen:C5774305,OMIM:620232 1 1 1.0000 condition_record_support_limited 20 0 0 Joint_contractures,_osteochondromas,_and_B-cell_lymphoma 2 low_record_burden_interpretation_limited low_record_burden_gene NFATC2 mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 Dilated cardiomyopathy 1A MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 1 1 1.0000 condition_record_support_limited 20 0 0 Dilated_cardiomyopathy_1A 2 low_record_burden_interpretation_limited low_record_burden_gene NFASC mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 13 low_record_burden_interpretation_limited low_record_burden_gene NF2 mondo_mondo_0002927_medgen_c0205945 Spindle cell sarcoma MONDO:MONDO:0002927,MedGen:C0205945 1 1 1.0000 condition_record_support_limited 20 0 0 Spindle_cell_sarcoma 285 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 285 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF2 human_phenotype_ontology_hp_0002888_mondo_mondo_0016698_mesh_d004806_medgen_c0014474_orphanet_251636 Ependymoma Human_Phenotype_Ontology:HP:0002888,MONDO:MONDO:0016698,MeSH:D004806,MedGen:C0014474,Orphanet:251636 1 1 1.0000 condition_record_support_limited 20 0 0 Ependymoma 285 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0002617_medgen_c0002940 Vascular dilatation Human_Phenotype_Ontology:HP:0002617,MedGen:C0002940 1 1 1.0000 condition_record_support_limited 20 0 1 Vascular_dilatation 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0002943_human_phenotype_ontology_hp_0004615_medgen_c1857790 Thoracic scoliosis Human_Phenotype_Ontology:HP:0002943,Human_Phenotype_Ontology:HP:0004615,MedGen:C1857790 1 1 1.0000 condition_record_support_limited 20 0 1 Thoracic_scoliosis 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0007077_human_phenotype_ontology_hp_0009735_medgen_c4024217 Spinal neurofibroma Human_Phenotype_Ontology:HP:0007077,Human_Phenotype_Ontology:HP:0009735,MedGen:C4024217 1 1 1.0000 condition_record_support_limited 20 0 0 Spinal_neurofibroma 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0004812_mondo_mondo_0020511_medgen_c0349636_orphanet_99860 Precursor B-cell acute lymphoblastic leukemia Human_Phenotype_Ontology:HP:0004812,MONDO:MONDO:0020511,MedGen:C0349636,Orphanet:99860 1 1 1.0000 condition_record_support_limited 20 0 1 Precursor_B-cell_acute_lymphoblastic_leukemia 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0009732_mondo_mondo_0003304_medgen_c0206728 Plexiform neurofibroma Human_Phenotype_Ontology:HP:0009732,MONDO:MONDO:0003304,MedGen:C0206728 1 1 1.0000 condition_record_support_limited 20 0 1 Plexiform_neurofibroma 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0033680_mondo_mondo_0016691_medgen_c0334583_orphanet_251612 Pilocytic astrocytoma Human_Phenotype_Ontology:HP:0033680,MONDO:MONDO:0016691,MedGen:C0334583,Orphanet:251612 1 1 1.0000 condition_record_support_limited 20 0 1 Pilocytic_astrocytoma 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0002666_mondo_mondo_0008233_medgen_c0031511_omim_171300_orphanet_29072 Pheochromocytoma Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072 1 1 1.0000 condition_record_support_limited 20 0 1 Pheochromocytoma 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 neurofibrmatosis_type_1 Neurofibrmatosis type 1 . 1 1 1.0000 condition_record_support_limited 20 0 1 Neurofibrmatosis_type_1 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0030692_mondo_mondo_0021211_mesh_d001932_medgen_c0006118 Neoplasm of brain Human_Phenotype_Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118 1 1 1.0000 condition_record_support_limited 20 0 1 Neoplasm_of_brain 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 mondo_mondo_0859763_medgen_c5782097_orphanet_634461 Mosaic neurofibromatosis type 1 MONDO:MONDO:0859763,MedGen:C5782097,Orphanet:634461 1 1 1.0000 condition_record_support_limited 20 0 1 Mosaic_neurofibromatosis_type_1 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 mondo_mondo_0015912_medgen_c5200934_omim_155100_orphanet_182050 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MONDO:MONDO:0015912,MedGen:C5200934,OMIM:155100,Orphanet:182050 1 1 1.0000 condition_record_support_limited 20 0 1 Macrothrombocytopenia_and_granulocyte_inclusions_with_or_without_nephritis_or_sensorineural_hearing_loss 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0005605_medgen_c4025174 Large cafe-au-lait macules with irregular margins Human_Phenotype_Ontology:HP:0005605,MedGen:C4025174 1 1 1.0000 condition_record_support_limited 20 0 1 Large_cafe-au-lait_macules_with_irregular_margins 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0010880_medgen_c4023676 Increased nuchal translucency Human_Phenotype_Ontology:HP:0010880,MedGen:C4023676 1 1 1.0000 condition_record_support_limited 20 0 1 Increased_nuchal_translucency 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0007183_medgen_c4024926 Focal T2 hyperintense basal ganglia lesion Human_Phenotype_Ontology:HP:0007183,MedGen:C4024926 1 1 1.0000 condition_record_support_limited 20 0 1 Focal_T2_hyperintense_basal_ganglia_lesion 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 mondo_mondo_0019755_medgen_c5680284_orphanet_93890 Developmental defect during embryogenesis MONDO:MONDO:0019755,MedGen:C5680284,Orphanet:93890 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_defect_during_embryogenesis 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0010862_medgen_c4023681 Delayed fine motor development Human_Phenotype_Ontology:HP:0010862,MedGen:C4023681 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_fine_motor_development 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0025289_medgen_c0235592 Cervical lymphadenopathy Human_Phenotype_Ontology:HP:0025289,MedGen:C0235592 1 1 1.0000 condition_record_support_limited 20 0 1 Cervical_lymphadenopathy 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 mondo_mondo_0014437_medgen_c1859567_omim_615986_orphanet_110 Bardet-Biedl syndrome 9 MONDO:MONDO:0014437,MedGen:C1859567,OMIM:615986,Orphanet:110 1 1 1.0000 condition_record_support_limited 20 0 1 Bardet-Biedl_syndrome_9 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0000504_medgen_c4025846 Abnormality of vision Human_Phenotype_Ontology:HP:0000504,MedGen:C4025846 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_vision 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NF1 human_phenotype_ontology_hp_0002733_human_phenotype_ontology_hp_0008149_medgen_c0149727 Abnormal lymph node morphology Human_Phenotype_Ontology:HP:0002733,Human_Phenotype_Ontology:HP:0008149,MedGen:C0149727 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_lymph_node_morphology 5381 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NEXN mondo_mondo_0005252_medgen_c0018801 Heart failure MONDO:MONDO:0005252,MedGen:C0018801 1 1 1.0000 condition_record_support_limited 20 0 1 Heart_failure 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEXN mondo_mondo_0979243_medgen_c6012748_omim_621261 Cardiomyopathy, dilated, 2M MONDO:MONDO:0979243,MedGen:C6012748,OMIM:621261 1 1 1.0000 condition_record_support_limited 20 0 0 Cardiomyopathy,_dilated,_2M 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEXMIF mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 218 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEXMIF human_phenotype_ontology_hp_0031491_medgen_c3806403 Continuous spike and waves during slow sleep Human_Phenotype_Ontology:HP:0031491,MedGen:C3806403 1 1 1.0000 condition_record_support_limited 20 0 1 Continuous_spike_and_waves_during_slow_sleep 218 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEUROG3 neurog3_related_disorder NEUROG3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 NEUROG3-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene NEUROG1 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 1 See_cases 4 low_record_burden_interpretation_limited low_record_burden_gene NEUROD1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene NEUROD1 human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Type 2 diabetes mellitus Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 1 1 1.0000 condition_record_support_limited 20 0 0 Type_2_diabetes_mellitus 5 low_record_burden_interpretation_limited low_record_burden_gene NEUROD1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 5 low_record_burden_interpretation_limited low_record_burden_gene NEUROD1 neurod1_related_disorder NEUROD1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 NEUROD1-related_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene NEU1 mondo_mondo_0002561_medgen_c0085078_orphanet_68366 Lysosomal storage disease MONDO:MONDO:0002561,MedGen:C0085078,Orphanet:68366 1 1 1.0000 condition_record_support_limited 20 0 1 Lysosomal_storage_disease 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEU1 autosomal_recessive_neu1_related_disorders Autosomal recessive NEU1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_NEU1-related_disorders 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEMF nemf_related_disorder NEMF-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 NEMF-related_disorder 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEK9 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEK8 human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Premature ovarian insufficiency Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 1 1 1.0000 condition_record_support_limited 20 0 1 Premature_ovarian_insufficiency 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEK8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEK4 mondo_mondo_0005308_medgen_c4277690_orphanet_363250 Ciliopathy MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 1 1 1.0000 condition_record_support_limited 20 0 0 Ciliopathy 1 low_record_burden_interpretation_limited low_record_burden_gene NEK2 mondo_mondo_0014256_medgen_c3809954_omim_615565_orphanet_791 Retinitis pigmentosa 67 MONDO:MONDO:0014256,MedGen:C3809954,OMIM:615565,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa_67 5 low_record_burden_interpretation_limited low_record_burden_gene NEK10 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene NEK10 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_ciliary_dyskinesia 8 low_record_burden_interpretation_limited low_record_burden_gene NEK1 mondo_mondo_0015461_medgen_c0036996_orphanet_1505 Short rib-polydactyly syndrome MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505 1 1 1.0000 condition_record_support_limited 20 0 1 Short_rib-polydactyly_syndrome 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEK1 mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 1 1 1.0000 condition_record_support_limited 20 0 1 Connective_tissue_disorder 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NEFL human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorineural_hearing_loss_disorder 51 compact_adjacent_exon_block_opportunity local_compact_architecture NEFL human_phenotype_ontology_hp_0001761_medgen_c0728829 Pes cavus Human_Phenotype_Ontology:HP:0001761,MedGen:C0728829 1 1 1.0000 condition_record_support_limited 20 0 1 Pes_cavus 51 compact_adjacent_exon_block_opportunity local_compact_architecture NEFL human_phenotype_ontology_hp_0003381_human_phenotype_ontology_hp_0006939_human_phenotype_ontology_hp_0007282_human_phenotype_ontology_hp_0011096_medgen_c0878575 Peripheral demyelination Human_Phenotype_Ontology:HP:0003381,Human_Phenotype_Ontology:HP:0006939,Human_Phenotype_Ontology:HP:0007282,Human_Phenotype_Ontology:HP:0011096,MedGen:C0878575 1 1 1.0000 condition_record_support_limited 20 0 1 Peripheral_demyelination 51 compact_adjacent_exon_block_opportunity local_compact_architecture NEFL nefl_related_disorder NEFL-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 NEFL-related_disorder 51 compact_adjacent_exon_block_opportunity local_compact_architecture NEFL human_phenotype_ontology_hp_0006967_human_phenotype_ontology_hp_0008934_human_phenotype_ontology_hp_0008951_human_phenotype_ontology_hp_0009038_human_phenotype_ontology_hp_0009130_medgen_c0239830 Hand muscle atrophy Human_Phenotype_Ontology:HP:0006967,Human_Phenotype_Ontology:HP:0008934,Human_Phenotype_Ontology:HP:0008951,Human_Phenotype_Ontology:HP:0009038,Human_Phenotype_Ontology:HP:0009130,MedGen:C0239830 1 1 1.0000 condition_record_support_limited 20 0 1 Hand_muscle_atrophy 51 compact_adjacent_exon_block_opportunity local_compact_architecture NEFL human_phenotype_ontology_hp_0002460_human_phenotype_ontology_hp_0002598_human_phenotype_ontology_hp_0002935_human_phenotype_ontology_hp_0003497_human_phenotype_ontology_hp_0006940_human_phenotype_ontology_hp_0009008_medgen_c0427065 Distal muscle weakness Human_Phenotype_Ontology:HP:0002460,Human_Phenotype_Ontology:HP:0002598,Human_Phenotype_Ontology:HP:0002935,Human_Phenotype_Ontology:HP:0003497,Human_Phenotype_Ontology:HP:0006940,Human_Phenotype_Ontology:HP:0009008,MedGen:C0427065 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_muscle_weakness 51 compact_adjacent_exon_block_opportunity local_compact_architecture NEFL human_phenotype_ontology_hp_0003485_human_phenotype_ontology_hp_0009035_human_phenotype_ontology_hp_0009053_medgen_c1836450 Distal lower limb muscle weakness Human_Phenotype_Ontology:HP:0003485,Human_Phenotype_Ontology:HP:0009035,Human_Phenotype_Ontology:HP:0009053,MedGen:C1836450 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_lower_limb_muscle_weakness 51 compact_adjacent_exon_block_opportunity local_compact_architecture NEFL medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_disorder 51 compact_adjacent_exon_block_opportunity local_compact_architecture NEFL human_phenotype_ontology_hp_0000761_human_phenotype_ontology_hp_0000762_human_phenotype_ontology_hp_0007118_human_phenotype_ontology_hp_0007218_human_phenotype_ontology_hp_0007231_medgen_c1857640 Decreased nerve conduction velocity Human_Phenotype_Ontology:HP:0000761,Human_Phenotype_Ontology:HP:0000762,Human_Phenotype_Ontology:HP:0007118,Human_Phenotype_Ontology:HP:0007218,Human_Phenotype_Ontology:HP:0007231,MedGen:C1857640 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_nerve_conduction_velocity 51 compact_adjacent_exon_block_opportunity local_compact_architecture NEFL mondo_mondo_0010995_medgen_c0270913_omim_601098_orphanet_101083 Charcot-Marie-Tooth disease type 1C MONDO:MONDO:0010995,MedGen:C0270913,OMIM:601098,Orphanet:101083 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease_type_1C 51 compact_adjacent_exon_block_opportunity local_compact_architecture NEFL mondo_mondo_0021944_medgen_c1852271_omim_ps609129 Auditory neuropathy MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 1 1 1.0000 condition_record_support_limited 20 0 0 Auditory_neuropathy 51 compact_adjacent_exon_block_opportunity local_compact_architecture NEFH mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 9 low_record_burden_interpretation_limited low_record_burden_gene NEFH mondo_mondo_0011633_medgen_c1853710_omim_606071_orphanet_99937 Charcot-Marie-Tooth disease axonal type 2C MONDO:MONDO:0011633,MedGen:C1853710,OMIM:606071,Orphanet:99937 1 1 1.0000 condition_record_support_limited 20 0 0 Charcot-Marie-Tooth_disease_axonal_type_2C 9 low_record_burden_interpretation_limited low_record_burden_gene NEDD4L human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 9 low_record_burden_interpretation_limited low_record_burden_gene NEDD4L mondo_mondo_0013031_medgen_c2752071_omim_612881_orphanet_2149 Chromosome 5Q14.3 deletion syndrome, distal MONDO:MONDO:0013031,MedGen:C2752071,OMIM:612881,Orphanet:2149 1 1 1.0000 condition_record_support_limited 20 0 1 Chromosome_5Q14.3_deletion_syndrome,_distal 9 low_record_burden_interpretation_limited low_record_burden_gene NECTIN1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene NECTIN1 mondo_mondo_0700251_medgen_c1833538 Orofacial cleft 7 MONDO:MONDO:0700251,MedGen:C1833538 1 1 1.0000 condition_record_support_limited 20 0 1 Orofacial_cleft_7 8 low_record_burden_interpretation_limited low_record_burden_gene NECAP1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene NEBL efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_dilated_cardiomyopathy 1 low_record_burden_interpretation_limited low_record_burden_gene NEB human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 1.0000 condition_record_support_limited 20 0 1 Non-immune_hydrops_fetalis 1871 large_gene_or_donor_burden_stress_case donor_burden_stress NEB human_phenotype_ontology_hp_0000369_medgen_c0239234 Low-set ears Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234 1 1 1.0000 condition_record_support_limited 20 0 1 Low-set_ears 1871 large_gene_or_donor_burden_stress_case donor_burden_stress NEB human_phenotype_ontology_hp_0002015_human_phenotype_ontology_hp_0002569_medgen_c0011168 Dysphagia Human_Phenotype_Ontology:HP:0002015,Human_Phenotype_Ontology:HP:0002569,MedGen:C0011168 1 1 1.0000 condition_record_support_limited 20 0 1 Dysphagia 1871 large_gene_or_donor_burden_stress_case donor_burden_stress NEB human_phenotype_ontology_hp_0000464_medgen_c0266623 Abnormality of the neck Human_Phenotype_Ontology:HP:0000464,MedGen:C0266623 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_neck 1871 large_gene_or_donor_burden_stress_case donor_burden_stress NEB human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 1871 large_gene_or_donor_burden_stress_case donor_burden_stress NDUFV1 mondo_mondo_0020858_medgen_c4748269_omim_618120 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5 MONDO:MONDO:0020858,MedGen:C4748269,OMIM:618120 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_V_(ATP_synthase)_deficiency,_nuclear_type_5 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFV1 mondo_mondo_0100223_medgen_cn263238_omim_ps252010 Mitochondrial complex I deficiency, nuclear type MONDO:MONDO:0100223,MedGen:CN263238,OMIM:PS252010 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency,_nuclear_type 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFV1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFS6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFS4 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_disease 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFS2 mondo_mondo_0958197_medgen_c5882713_omim_620569 Leber-like hereditary optic neuropathy, autosomal recessive 2 MONDO:MONDO:0958197,MedGen:C5882713,OMIM:620569 1 1 1.0000 condition_record_support_limited 20 0 0 Leber-like_hereditary_optic_neuropathy,_autosomal_recessive_2 13 low_record_burden_interpretation_limited low_record_burden_gene NDUFS2 human_phenotype_ontology_hp_0001086_human_phenotype_ontology_hp_0001112_mondo_mondo_0010788_medgen_c0917796_omim_535000_orphanet_104 Leber optic atrophy Human_Phenotype_Ontology:HP:0001086,Human_Phenotype_Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000,Orphanet:104 1 1 1.0000 condition_record_support_limited 20 0 0 Leber_optic_atrophy 13 low_record_burden_interpretation_limited low_record_burden_gene NDUFS1 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_disease 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFS1 mondo_mondo_0010789_medgen_c0162671_omim_540000_orphanet_550 MELAS syndrome MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550 1 1 1.0000 condition_record_support_limited 20 0 0 MELAS_syndrome 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDUFB9 mondo_mondo_0032628_medgen_c4748803_omim_618245 Mitochondrial complex I deficiency, nuclear type 24 MONDO:MONDO:0032628,MedGen:C4748803,OMIM:618245 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_I_deficiency,_nuclear_type_24 1 low_record_burden_interpretation_limited low_record_burden_gene NDUFB7 medgen_c5681078_orphanet_309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes MedGen:C5681078,Orphanet:309136 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_disorder_due_to_a_defect_in_assembly_or_maturation_of_the_respiratory_chain_complexes 1 low_record_burden_interpretation_limited low_record_burden_gene NDUFB7 mondo_mondo_0859320_medgen_c5774258_omim_620135 Mitochondrial complex I deficiency, nuclear type 39 MONDO:MONDO:0859320,MedGen:C5774258,OMIM:620135 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency,_nuclear_type_39 1 low_record_burden_interpretation_limited low_record_burden_gene NDUFB3 mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 Mitochondrial complex I deficiency MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency 5 low_record_burden_interpretation_limited low_record_burden_gene NDUFB11 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene NDUFB11 mondo_mondo_1040023_medgen_cn378754 NDUFB11-related disorders MONDO:MONDO:1040023,MedGen:CN378754 1 1 1.0000 condition_record_support_limited 20 0 1 NDUFB11-related_disorders 11 low_record_burden_interpretation_limited low_record_burden_gene NDUFB11 mondo_mondo_0100224_medgen_cn257533_omim_252010 Mitochondrial complex I deficiency, nuclear type 1 MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency,_nuclear_type_1 11 low_record_burden_interpretation_limited low_record_burden_gene NDUFB11 mondo_mondo_0024552_medgen_c0796070_omim_309801_orphanet_2556 Linear skin defects with multiple congenital anomalies 1 MONDO:MONDO:0024552,MedGen:C0796070,OMIM:309801,Orphanet:2556 1 1 1.0000 condition_record_support_limited 20 0 1 Linear_skin_defects_with_multiple_congenital_anomalies_1 11 low_record_burden_interpretation_limited low_record_burden_gene NDUFB11 human_phenotype_ontology_hp_0005152_mondo_mondo_0010771_medgen_c1708371_omim_500000_orphanet_137675 Histiocytoid cardiomyopathy Human_Phenotype_Ontology:HP:0005152,MONDO:MONDO:0010771,MedGen:C1708371,OMIM:500000,Orphanet:137675 1 1 1.0000 condition_record_support_limited 20 0 1 Histiocytoid_cardiomyopathy 11 low_record_burden_interpretation_limited low_record_burden_gene NDUFB10 mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 Mitochondrial complex I deficiency MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_I_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene NDUFB10 mondo_mondo_0033560_medgen_c5436576_omim_619003 Mitochondrial complex 1 deficiency, nuclear type 35 MONDO:MONDO:0033560,MedGen:C5436576,OMIM:619003 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_1_deficiency,_nuclear_type_35 2 low_record_burden_interpretation_limited low_record_burden_gene NDUFAF8 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene NDUFAF8 ndufaf8_related_disorder NDUFAF8-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 NDUFAF8-related_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene NDUFAF6 human_phenotype_ontology_hp_0002376_human_phenotype_ontology_hp_0002471_human_phenotype_ontology_hp_0002489_human_phenotype_ontology_hp_0006797_human_phenotype_ontology_hp_0006828_human_phenotype_ontology_hp_0006854_human_phenotype_ontology_hp_0007037_human_phenotype_ontology_hp_0007242_human_phenotype_ontology_hp_0007247_medgen_c1836830 Developmental regression Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_regression 34 compact_adjacent_exon_block_opportunity local_compact_architecture NDUFAF5 mondo_mondo_0100224_medgen_cn257533_omim_252010 Mitochondrial complex I deficiency, nuclear type 1 MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency,_nuclear_type_1 117 compact_adjacent_exon_block_opportunity local_compact_architecture NDUFAF5 mondo_mondo_0020478_medgen_c4304725_orphanet_99718 Leber plus disease MONDO:MONDO:0020478,MedGen:C4304725,Orphanet:99718 1 1 1.0000 condition_record_support_limited 20 0 0 Leber_plus_disease 117 compact_adjacent_exon_block_opportunity local_compact_architecture NDUFAF4 mondo_mondo_0032620_medgen_c4748778_omim_618237 Mitochondrial complex I deficiency, nuclear type 15 MONDO:MONDO:0032620,MedGen:C4748778,OMIM:618237 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_I_deficiency,_nuclear_type_15 2 low_record_burden_interpretation_limited low_record_burden_gene NDUFAF4 mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 Mitochondrial complex I deficiency MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_I_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene NDUFAF2 mondo_mondo_0013829_medgen_c3553298_omim_614621_orphanet_178338 UV-sensitive syndrome 2 MONDO:MONDO:0013829,MedGen:C3553298,OMIM:614621,Orphanet:178338 1 1 1.0000 condition_record_support_limited 20 0 1 UV-sensitive_syndrome_2 23 compact_adjacent_exon_block_opportunity local_compact_architecture NDUFAF2 ndufaf2_related_disorder NDUFAF2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 NDUFAF2-related_disorder 23 compact_adjacent_exon_block_opportunity local_compact_architecture NDUFAF2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 23 compact_adjacent_exon_block_opportunity local_compact_architecture NDUFAF2 mondo_mondo_0016006_medgen_c0009207_orphanet_191 Cockayne syndrome MONDO:MONDO:0016006,MedGen:C0009207,Orphanet:191 1 1 1.0000 condition_record_support_limited 20 0 1 Cockayne_syndrome 23 compact_adjacent_exon_block_opportunity local_compact_architecture NDUFAF1 mondo_mondo_0032617_medgen_c4748769_omim_618234 Mitochondrial complex I deficiency, nuclear type 11 MONDO:MONDO:0032617,MedGen:C4748769,OMIM:618234 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_I_deficiency,_nuclear_type_11 4 low_record_burden_interpretation_limited low_record_burden_gene NDUFA9 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene NDUFA6 ndufa6_related_disorder NDUFA6-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 NDUFA6-related_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene NDUFA6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 5 low_record_burden_interpretation_limited low_record_burden_gene NDUFA2 cystic_leukoencephalopathy Cystic Leukoencephalopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 Cystic_Leukoencephalopathy 3 low_record_burden_interpretation_limited low_record_burden_gene NDUFA13 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene NDUFA13 mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 Mitochondrial complex I deficiency MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency 6 low_record_burden_interpretation_limited low_record_burden_gene NDUFA12 mondo_mondo_0010478_medgen_c3806688_omim_300896_orphanet_356961 SLC35A2-congenital disorder of glycosylation MONDO:MONDO:0010478,MedGen:C3806688,OMIM:300896,Orphanet:356961 1 1 1.0000 condition_record_support_limited 20 0 1 SLC35A2-congenital_disorder_of_glycosylation 14 low_record_burden_interpretation_limited low_record_burden_gene NDUFA1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 3 low_record_burden_interpretation_limited low_record_burden_gene NDST1 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 1 See_cases 4 low_record_burden_interpretation_limited low_record_burden_gene NDST1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 4 low_record_burden_interpretation_limited low_record_burden_gene NDRG1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDRG1 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDP structural_eye_disease Structural eye disease . 1 1 1.0000 condition_record_support_limited 20 0 0 Structural_eye_disease 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDP human_phenotype_ontology_hp_0000200_medgen_c0426501 Short lingual frenulum Human_Phenotype_Ontology:HP:0000200,MedGen:C0426501 1 1 1.0000 condition_record_support_limited 20 0 1 Short_lingual_frenulum 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDP human_phenotype_ontology_hp_0000541_human_phenotype_ontology_hp_0007864_human_phenotype_ontology_hp_0008021_mondo_mondo_0008375_medgen_c0035305_omim_180050 Retinal detachment Human_Phenotype_Ontology:HP:0000541,Human_Phenotype_Ontology:HP:0007864,Human_Phenotype_Ontology:HP:0008021,MONDO:MONDO:0008375,MedGen:C0035305,OMIM:180050 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_detachment 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDP human_phenotype_ontology_hp_0007968_mondo_mondo_0019631_medgen_c0266568_omim_ps221900_orphanet_91495 Persistent hyperplastic primary vitreous Human_Phenotype_Ontology:HP:0007968,MONDO:MONDO:0019631,MedGen:C0266568,OMIM:PS221900,Orphanet:91495 1 1 1.0000 condition_record_support_limited 20 0 1 Persistent_hyperplastic_primary_vitreous 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDP human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 1.0000 condition_record_support_limited 20 0 1 Nystagmus 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDP ndp_related_retinopathies NDP-related retinopathies . 1 1 1.0000 condition_record_support_limited 20 0 1 NDP-related_retinopathies 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDP human_phenotype_ontology_hp_0000569_human_phenotype_ontology_hp_0011003_medgen_c0271183 High myopia Human_Phenotype_Ontology:HP:0000569,Human_Phenotype_Ontology:HP:0011003,MedGen:C0271183 1 1 1.0000 condition_record_support_limited 20 0 1 High_myopia 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDP medgen_c4016494 Exudative vitreoretinopathy, X-linked MedGen:C4016494 1 1 1.0000 condition_record_support_limited 20 0 1 Exudative_vitreoretinopathy,_X-linked 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDNF condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 6 low_record_burden_interpretation_limited low_record_burden_gene NDE1 human_phenotype_ontology_hp_0004753_human_phenotype_ontology_hp_0005180_mondo_mondo_0002870_medgen_c0040961 Tricuspid regurgitation Human_Phenotype_Ontology:HP:0004753,Human_Phenotype_Ontology:HP:0005180,MONDO:MONDO:0002870,MedGen:C0040961 1 1 1.0000 condition_record_support_limited 20 0 1 Tricuspid_regurgitation 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDE1 nde1_related_disorder NDE1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 NDE1-related_disorder 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDE1 human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Myopia Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 1 1 1.0000 condition_record_support_limited 20 0 1 Myopia 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDE1 human_phenotype_ontology_hp_0001653_mondo_mondo_1030008_medgen_c0026266 Mitral regurgitation Human_Phenotype_Ontology:HP:0001653,MONDO:MONDO:1030008,MedGen:C0026266 1 1 1.0000 condition_record_support_limited 20 0 1 Mitral_regurgitation 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDE1 mondo_mondo_0025708_medgen_c5543476_omim_619351 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 MONDO:MONDO:0025708,MedGen:C5543476,OMIM:619351 1 1 1.0000 condition_record_support_limited 20 0 0 Megacystis-microcolon-intestinal_hypoperistalsis_syndrome_2 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDE1 human_phenotype_ontology_hp_0002616_human_phenotype_ontology_hp_0002631_human_phenotype_ontology_hp_0004750_human_phenotype_ontology_hp_0005125_medgen_c1298820 Aortic root aneurysm Human_Phenotype_Ontology:HP:0002616,Human_Phenotype_Ontology:HP:0002631,Human_Phenotype_Ontology:HP:0004750,Human_Phenotype_Ontology:HP:0005125,MedGen:C1298820 1 1 1.0000 condition_record_support_limited 20 0 1 Aortic_root_aneurysm 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDE1 human_phenotype_ontology_hp_0001711_medgen_c0344905 Abnormal left ventricle morphology Human_Phenotype_Ontology:HP:0001711,MedGen:C0344905 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_left_ventricle_morphology 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NDC1 mondo_mondo_0979875_medgen_cn379794_omim_621328 Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima MONDO:MONDO:0979875,MedGen:CN379794,OMIM:621328 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_achalasia,_polyneuropathy,_and_alacrima 1 low_record_burden_interpretation_limited low_record_burden_gene NCSTN human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Abnormality of the skin Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_skin 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCR3 mondo_mondo_0012202_medgen_c1836721_omim_609148 Malaria, mild, susceptibility to MONDO:MONDO:0012202,MedGen:C1836721,OMIM:609148 1 1 1.0000 condition_record_support_limited 20 0 1 Malaria,_mild,_susceptibility_to 2 low_record_burden_interpretation_limited low_record_burden_gene NCR1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene NCR1 mondo_mondo_0980964_medgen_cn380832_omim_621471 Oocyte/zygote/embryo maturation arrest 25 MONDO:MONDO:0980964,MedGen:CN380832,OMIM:621471 1 1 1.0000 condition_record_support_limited 20 0 0 Oocyte/zygote/embryo_maturation_arrest_25 14 low_record_burden_interpretation_limited low_record_burden_gene NCR1 nlrp7_related_disorder NLRP7-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 NLRP7-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene NCOR2 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 1 low_record_burden_interpretation_limited low_record_burden_gene NCOR1 human_phenotype_ontology_hp_0000963_human_phenotype_ontology_hp_0001020_medgen_c0423757 Thin skin Human_Phenotype_Ontology:HP:0000963,Human_Phenotype_Ontology:HP:0001020,MedGen:C0423757 1 1 1.0000 condition_record_support_limited 20 0 1 Thin_skin 1 low_record_burden_interpretation_limited low_record_burden_gene NCOR1 hyperlaxity Hyperlaxity . 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperlaxity 1 low_record_burden_interpretation_limited low_record_burden_gene NCOR1 medgen_c0424605 Developmental delay MedGen:C0424605 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene NCOA3 human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Bilateral sensorineural hearing impairment Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 1.0000 condition_record_support_limited 20 0 0 Bilateral_sensorineural_hearing_impairment 1 low_record_burden_interpretation_limited low_record_burden_gene NCLN mondo_mondo_0007723_medgen_c3888239_omim_142623_orphanet_388 Hirschsprung disease, susceptibility to, 1 MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388 1 1 1.0000 condition_record_support_limited 20 0 0 Hirschsprung_disease,_susceptibility_to,_1 1 low_record_burden_interpretation_limited low_record_burden_gene NCKAP1 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCKAP1 nckap1_related_neurodevelopmental_disorder_with_autism_features NCKAP1-related neurodevelopmental disorder with autism features . 1 1 1.0000 condition_record_support_limited 20 0 0 NCKAP1-related_neurodevelopmental_disorder_with_autism_features 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCKAP1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCKAP1 mondo_mondo_0033551_medgen_c5436540_omim_618982 Immunodeficiency 72 with autoinflammation MONDO:MONDO:0033551,MedGen:C5436540,OMIM:618982 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_72_with_autoinflammation 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCF4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCF2 ncf2_related_disorder NCF2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 NCF2-related_disorder 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCF1 mondo_mondo_0007268_medgen_c1861862_omim_115197 Hypertrophic cardiomyopathy 4 MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197 1 1 1.0000 condition_record_support_limited 20 0 0 Hypertrophic_cardiomyopathy_4 13 low_record_burden_interpretation_limited low_record_burden_gene NCF1 mondo_mondo_0009310_medgen_c1856245_omim_233710_orphanet_379 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 MONDO:MONDO:0009310,MedGen:C1856245,OMIM:233710,Orphanet:379 1 1 1.0000 condition_record_support_limited 20 0 0 Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_2 13 low_record_burden_interpretation_limited low_record_burden_gene NCF1 mondo_mondo_0010600_medgen_c1844376_omim_306400_orphanet_379 Granulomatous disease, chronic, X-linked MONDO:MONDO:0010600,MedGen:C1844376,OMIM:306400,Orphanet:379 1 1 1.0000 condition_record_support_limited 20 0 1 Granulomatous_disease,_chronic,_X-linked 13 low_record_burden_interpretation_limited low_record_burden_gene NCF1 mondo_mondo_0018305_medgen_c0018203_omim_ps306400_orphanet_379 Chronic granulomatous disease MONDO:MONDO:0018305,MedGen:C0018203,OMIM:PS306400,Orphanet:379 1 1 1.0000 condition_record_support_limited 20 0 1 Chronic_granulomatous_disease 13 low_record_burden_interpretation_limited low_record_burden_gene NCAPH2 human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 1.0000 condition_record_support_limited 20 0 1 Tip-toe_gait 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCAPH2 human_phenotype_ontology_hp_0011344_medgen_c1837397 Severe global developmental delay Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_global_developmental_delay 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCAPH2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCAPH2 efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCAPH2 mondo_mondo_0016862_medgen_c1956125_omim_118450_orphanet_261619_orphanet_52 Alagille syndrome due to a JAG1 point mutation MONDO:MONDO:0016862,MedGen:C1956125,OMIM:118450,Orphanet:261619,Orphanet:52 1 1 1.0000 condition_record_support_limited 20 0 1 Alagille_syndrome_due_to_a_JAG1_point_mutation 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NCAPG2 mondo_mondo_0032764_medgen_c5193110_omim_618460 Khan-Khan-Katsanis syndrome MONDO:MONDO:0032764,MedGen:C5193110,OMIM:618460 1 1 1.0000 condition_record_support_limited 20 0 0 Khan-Khan-Katsanis_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene NCAPD3 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 9 low_record_burden_interpretation_limited low_record_burden_gene NCAPD3 ncapd3_related_disorder NCAPD3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 NCAPD3-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene NCAM1 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 1 low_record_burden_interpretation_limited low_record_burden_gene NBN medgen_c3469524 Prostate cancer susceptibility MedGen:C3469524 1 1 1.0000 condition_record_support_limited 20 0 1 Prostate_cancer_susceptibility 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NBN human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Premature ovarian insufficiency Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 1 1 1.0000 condition_record_support_limited 20 0 1 Premature_ovarian_insufficiency 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NBN mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NBN human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NBN mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 Malignant lymphoma, large B-cell, diffuse MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 1 1 1.0000 condition_record_support_limited 20 0 1 Malignant_lymphoma,_large_B-cell,_diffuse 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NBN human_phenotype_ontology_hp_0002665_mondo_mondo_0005062_mesh_d008223_medgen_c0024299_orphanet_223735 Lymphoma Human_Phenotype_Ontology:HP:0002665,MONDO:MONDO:0005062,MeSH:D008223,MedGen:C0024299,Orphanet:223735 1 1 1.0000 condition_record_support_limited 20 0 1 Lymphoma 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NBN human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Lissencephaly Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 1 1 1.0000 condition_record_support_limited 20 0 1 Lissencephaly 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NBN mondo_mondo_0013108_medgen_c2751595 Leukemia, acute lymphocytic, susceptibility to, 1 MONDO:MONDO:0013108,MedGen:C2751595 1 1 1.0000 condition_record_support_limited 20 0 1 Leukemia,_acute_lymphocytic,_susceptibility_to,_1 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NBN human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Hepatocellular carcinoma Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 1 1 1.0000 condition_record_support_limited 20 0 1 Hepatocellular_carcinoma 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NBN mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 Familial prostate cancer MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_prostate_cancer 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NBN mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 Carcinoma of pancreas MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 1 1 1.0000 condition_record_support_limited 20 0 1 Carcinoma_of_pancreas 531 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control NBEAL2 human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombocytopenia 72 large_gene_or_donor_burden_stress_case donor_burden_stress NBEAL2 human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_bleeding 72 large_gene_or_donor_burden_stress_case donor_burden_stress NBEA typical_paroxysmal_kinesigenic_dyskinesia typical paroxysmal kinesigenic dyskinesia . 1 1 1.0000 condition_record_support_limited 20 0 0 typical_paroxysmal_kinesigenic_dyskinesia 81 large_gene_or_donor_burden_stress_case donor_burden_stress NBEA human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 81 large_gene_or_donor_burden_stress_case donor_burden_stress NBEA nbea_related_developmental_delay_and_generalized_epilepsy NBEA-related developmental delay and generalized epilepsy . 1 1 1.0000 condition_record_support_limited 20 0 1 NBEA-related_developmental_delay_and_generalized_epilepsy 81 large_gene_or_donor_burden_stress_case donor_burden_stress NBEA nbea_related_complex_neurodevelopmental_disorder NBEA-related complex neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 NBEA-related_complex_neurodevelopmental_disorder 81 large_gene_or_donor_burden_stress_case donor_burden_stress NBEA medgen_c0431659 Hypoplasia of scrotum MedGen:C0431659 1 1 1.0000 condition_record_support_limited 20 0 0 Hypoplasia_of_scrotum 81 large_gene_or_donor_burden_stress_case donor_burden_stress NBEA mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy 81 large_gene_or_donor_burden_stress_case donor_burden_stress NBEA mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 81 large_gene_or_donor_burden_stress_case donor_burden_stress NBAS human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 245 large_gene_or_donor_burden_stress_case donor_burden_stress NBAS human_phenotype_ontology_hp_0001138_human_phenotype_ontology_hp_0007806_mondo_mondo_0002135_medgen_c3887709 Optic neuropathy Human_Phenotype_Ontology:HP:0001138,Human_Phenotype_Ontology:HP:0007806,MONDO:MONDO:0002135,MedGen:C3887709 1 1 1.0000 condition_record_support_limited 20 0 1 Optic_neuropathy 245 large_gene_or_donor_burden_stress_case donor_burden_stress NBAS mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 0 Leber_congenital_amaurosis 245 large_gene_or_donor_burden_stress_case donor_burden_stress NBAS fetal_anomalies_with_a_likely_genetic_cause Fetal anomalies with a likely genetic cause . 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_anomalies_with_a_likely_genetic_cause 245 large_gene_or_donor_burden_stress_case donor_burden_stress NBAS autosomal_recessive_nbas_related_disorders Autosomal recessive NBAS-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_NBAS-related_disorders 245 large_gene_or_donor_burden_stress_case donor_burden_stress NAXE naxe_related_disorder NAXE-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 NAXE-related_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAXD naxd_related_disorder NAXD-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 NAXD-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene NAV3 nav3_associated_neurodevelopmental_disorder NAV3-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 NAV3-associated_neurodevelopmental_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene NARS2 nars2_related_disorder NARS2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 NARS2-related_disorder 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NARS2 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_disease 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NARS2 mondo_mondo_0012191_medgen_c1836797_omim_609060_orphanet_137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060,Orphanet:137681 1 1 1.0000 condition_record_support_limited 20 0 0 Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NARS1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NARS1 nars1_related_disorder NARS1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 NARS1-related_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NARS1 mondo_mondo_0033560_medgen_c5436576_omim_619003 Mitochondrial complex 1 deficiency, nuclear type 35 MONDO:MONDO:0033560,MedGen:C5436576,OMIM:619003 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_1_deficiency,_nuclear_type_35 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NARS1 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAPEPLD mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 1 low_record_burden_interpretation_limited low_record_burden_gene NANOS1 mondo_mondo_0014172_medgen_c3809427_omim_615413 Spermatogenic failure 12 MONDO:MONDO:0014172,MedGen:C3809427,OMIM:615413 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_12 1 low_record_burden_interpretation_limited low_record_burden_gene NALF1 mondo_mondo_0015278_medgen_c2931038_omim_260350_orphanet_1333 Familial pancreatic carcinoma MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_pancreatic_carcinoma 3 low_record_burden_interpretation_limited low_record_burden_gene NALCN human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 1.0000 condition_record_support_limited 20 0 1 Strabismus 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NALCN human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NALCN human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NALCN mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NALCN intellectual_disability_with_episodic_ataxia_and_congenital_arthrogryposis Intellectual disability with episodic ataxia and congenital arthrogryposis . 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability_with_episodic_ataxia_and_congenital_arthrogryposis 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NALCN human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NALCN human_phenotype_ontology_hp_0004326_medgen_c0006625 Cachexia Human_Phenotype_Ontology:HP:0004326,MedGen:C0006625 1 1 1.0000 condition_record_support_limited 20 0 1 Cachexia 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NALCN mondo_mondo_0015225_medgen_cn261653_orphanet_109007 Arthrogryposis syndrome MONDO:MONDO:0015225,MedGen:CN261653,Orphanet:109007 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis_syndrome 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NALCN human_phenotype_ontology_hp_0002793_medgen_c1837388 Abnormal pattern of respiration Human_Phenotype_Ontology:HP:0002793,MedGen:C1837388 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_pattern_of_respiration 179 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture NAGLU mondo_mondo_0002561_medgen_c0085078_orphanet_68366 Lysosomal storage disease MONDO:MONDO:0002561,MedGen:C0085078,Orphanet:68366 1 1 1.0000 condition_record_support_limited 20 0 1 Lysosomal_storage_disease 295 compact_adjacent_exon_block_opportunity local_compact_architecture NAGLU human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 295 compact_adjacent_exon_block_opportunity local_compact_architecture NAGLU mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease 295 compact_adjacent_exon_block_opportunity local_compact_architecture NAGLU human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy 295 compact_adjacent_exon_block_opportunity local_compact_architecture NAGA condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NADSYN1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 13 low_record_burden_interpretation_limited low_record_burden_gene NACC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 6 low_record_burden_interpretation_limited low_record_burden_gene NAALADL1 human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 1.0000 condition_record_support_limited 20 0 0 Optic_atrophy 1 low_record_burden_interpretation_limited low_record_burden_gene NAA80 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 1 See_cases 1 low_record_burden_interpretation_limited low_record_burden_gene NAA80 mondo_mondo_0970998_medgen_c5889721_omim_620830 Auroneurodental syndrome MONDO:MONDO:0970998,MedGen:C5889721,OMIM:620830 1 1 1.0000 condition_record_support_limited 20 0 1 Auroneurodental_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene NAA30 lethal_multiystemic_syndrome Lethal multiystemic syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 Lethal_multiystemic_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene NAA15 intellectual_developmental_disorder_50_with_behavioral_abnormalities_mrd50 intellectual developmental disorder-50 with behavioral abnormalities (MRD50) . 1 1 1.0000 condition_record_support_limited 20 0 1 intellectual_developmental_disorder-50_with_behavioral_abnormalities_(MRD50) 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAA15 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAA15 naa15_related_syndrome NAA15-related syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 NAA15-related_syndrome 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAA15 medgen_c1135954 Incidental Discovery MedGen:C1135954 1 1 1.0000 condition_record_support_limited 20 0 1 Incidental_Discovery 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAA15 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAA15 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 0 Autism 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAA10 human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAA10 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture NAA10 mondo_mondo_0100124_medgen_cn294784 NAA10-related syndrome MONDO:MONDO:0100124,MedGen:CN294784 1 1 1.0000 condition_record_support_limited 20 0 1 NAA10-related_syndrome 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture N4BP2L2 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene MZT2B human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 1 low_record_burden_interpretation_limited low_record_burden_gene MZT2B human_phenotype_ontology_hp_0011451_medgen_c2677180 Primary microcephaly Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_microcephaly 1 low_record_burden_interpretation_limited low_record_burden_gene MZT2B human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Lissencephaly Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 1 1 1.0000 condition_record_support_limited 20 0 1 Lissencephaly 1 low_record_burden_interpretation_limited low_record_burden_gene MZT2B human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene MYZAP efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 7 low_record_burden_interpretation_limited low_record_burden_gene MYT1L human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYT1L myt1l_related_neurodevelopmental_disorder MYT1L-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MYT1L-related_neurodevelopmental_disorder 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYT1L human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 0 Autism 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYT1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene MYSM1 mysm1_related_disorder MYSM1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MYSM1-related_disorder 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYRF human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 1.0000 condition_record_support_limited 20 0 1 Non-immune_hydrops_fetalis 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYRF mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYRF human_phenotype_ontology_hp_0001651_mondo_mondo_0015661_medgen_c0011813_orphanet_1666 Dextrocardia Human_Phenotype_Ontology:HP:0001651,MONDO:MONDO:0015661,MedGen:C0011813,Orphanet:1666 1 1 1.0000 condition_record_support_limited 20 0 1 Dextrocardia 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYPN mondo_mondo_0018958_medgen_c0206157_omim_ps161800_orphanet_607 Nemaline myopathy MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607 1 1 1.0000 condition_record_support_limited 20 0 0 Nemaline_myopathy 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYPN mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 Congenital myopathy MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myopathy 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYPN medgen_c3808963 Cardiomyopathy, familial restrictive, 4 MedGen:C3808963 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy,_familial_restrictive,_4 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYOZ2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene MYOZ2 mondo_mondo_0013455_medgen_c3151204_omim_613838 Hypertrophic cardiomyopathy 16 MONDO:MONDO:0013455,MedGen:C3151204,OMIM:613838 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrophic_cardiomyopathy_16 1 low_record_burden_interpretation_limited low_record_burden_gene MYOT human_phenotype_ontology_hp_0000018_human_phenotype_ontology_hp_0002839_medgen_c1843663 Urinary bladder sphincter dysfunction Human_Phenotype_Ontology:HP:0000018,Human_Phenotype_Ontology:HP:0002839,MedGen:C1843663 1 1 1.0000 condition_record_support_limited 20 0 1 Urinary_bladder_sphincter_dysfunction 9 low_record_burden_interpretation_limited low_record_burden_gene MYOT human_phenotype_ontology_hp_0008965_human_phenotype_ontology_hp_0009073_medgen_c1836156 Progressive proximal muscle weakness Human_Phenotype_Ontology:HP:0008965,Human_Phenotype_Ontology:HP:0009073,MedGen:C1836156 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_proximal_muscle_weakness 9 low_record_burden_interpretation_limited low_record_burden_gene MYOT human_phenotype_ontology_hp_0008933_human_phenotype_ontology_hp_0009022_human_phenotype_ontology_hp_0009057_human_phenotype_ontology_hp_0009063_medgen_c1836609 Progressive distal muscle weakness Human_Phenotype_Ontology:HP:0008933,Human_Phenotype_Ontology:HP:0009022,Human_Phenotype_Ontology:HP:0009057,Human_Phenotype_Ontology:HP:0009063,MedGen:C1836609 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_distal_muscle_weakness 9 low_record_burden_interpretation_limited low_record_burden_gene MYOT human_phenotype_ontology_hp_0003715_mondo_mondo_0018943_medgen_c2678065_omim_ps601419_orphanet_593 Myofibrillar myopathy Human_Phenotype_Ontology:HP:0003715,MONDO:MONDO:0018943,MedGen:C2678065,OMIM:PS601419,Orphanet:593 1 1 1.0000 condition_record_support_limited 20 0 1 Myofibrillar_myopathy 9 low_record_burden_interpretation_limited low_record_burden_gene MYOT human_phenotype_ontology_hp_0100299_medgen_c4022159 Muscle fiber inclusion bodies Human_Phenotype_Ontology:HP:0100299,MedGen:C4022159 1 1 1.0000 condition_record_support_limited 20 0 1 Muscle_fiber_inclusion_bodies 9 low_record_burden_interpretation_limited low_record_burden_gene MYOT myot_related_disorder MYOT-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MYOT-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene MYOT human_phenotype_ontology_hp_0012514_medgen_c0023222 Lower limb pain Human_Phenotype_Ontology:HP:0012514,MedGen:C0023222 1 1 1.0000 condition_record_support_limited 20 0 1 Lower_limb_pain 9 low_record_burden_interpretation_limited low_record_burden_gene MYOT human_phenotype_ontology_hp_0003377_human_phenotype_ontology_hp_0009027_medgen_c1866141 Foot dorsiflexor weakness Human_Phenotype_Ontology:HP:0003377,Human_Phenotype_Ontology:HP:0009027,MedGen:C1866141 1 1 1.0000 condition_record_support_limited 20 0 1 Foot_dorsiflexor_weakness 9 low_record_burden_interpretation_limited low_record_burden_gene MYOT human_phenotype_ontology_hp_0012548_medgen_c4021082 Fatty replacement of skeletal muscle Human_Phenotype_Ontology:HP:0012548,MedGen:C4021082 1 1 1.0000 condition_record_support_limited 20 0 1 Fatty_replacement_of_skeletal_muscle 9 low_record_burden_interpretation_limited low_record_burden_gene MYOT human_phenotype_ontology_hp_0003322_human_phenotype_ontology_hp_0003458_human_phenotype_ontology_hp_0003711_human_phenotype_ontology_hp_0009021_medgen_c4021726 EMG: myopathic abnormalities Human_Phenotype_Ontology:HP:0003322,Human_Phenotype_Ontology:HP:0003458,Human_Phenotype_Ontology:HP:0003711,Human_Phenotype_Ontology:HP:0009021,MedGen:C4021726 1 1 1.0000 condition_record_support_limited 20 0 1 EMG:_myopathic_abnormalities 9 low_record_burden_interpretation_limited low_record_burden_gene MYOT mondo_mondo_0018949_medgen_c0751336_omim_ps160500_orphanet_599 Distal myopathy MONDO:MONDO:0018949,MedGen:C0751336,OMIM:PS160500,Orphanet:599 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_myopathy 9 low_record_burden_interpretation_limited low_record_burden_gene MYOT human_phenotype_ontology_hp_0003485_human_phenotype_ontology_hp_0009035_human_phenotype_ontology_hp_0009053_medgen_c1836450 Distal lower limb muscle weakness Human_Phenotype_Ontology:HP:0003485,Human_Phenotype_Ontology:HP:0009035,Human_Phenotype_Ontology:HP:0009053,MedGen:C1836450 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_lower_limb_muscle_weakness 9 low_record_burden_interpretation_limited low_record_burden_gene MYOT human_phenotype_ontology_hp_0002484_human_phenotype_ontology_hp_0002934_human_phenotype_ontology_hp_0003486_human_phenotype_ontology_hp_0003693_human_phenotype_ontology_hp_0003699_human_phenotype_ontology_hp_0006786_human_phenotype_ontology_hp_0006864_human_phenotype_ontology_hp_0008937_human_phenotype_ontology_hp_0008958_human_phenotype_ontology_hp_0009015_human_phenotype_ontology_hp_0009040_human_phenotype_ontology_hp_0009065_medgen_c1848736 Distal amyotrophy Human_Phenotype_Ontology:HP:0002484,Human_Phenotype_Ontology:HP:0002934,Human_Phenotype_Ontology:HP:0003486,Human_Phenotype_Ontology:HP:0003693,Human_Phenotype_Ontology:HP:0003699,Human_Phenotype_Ontology:HP:0006786,Human_Phenotype_Ontology:HP:0006864,Human_Phenotype_Ontology:HP:0008937,Human_Phenotype_Ontology:HP:0008958,Human_Phenotype_Ontology:HP:0009015,Human_Phenotype_Ontology:HP:0009040,Human_Phenotype_Ontology:HP:0009065,MedGen:C1848736 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_amyotrophy 9 low_record_burden_interpretation_limited low_record_burden_gene MYOF mondo_mondo_0025713_medgen_c5543526_omim_619366 Angioedema, hereditary, 7 MONDO:MONDO:0025713,MedGen:C5543526,OMIM:619366 1 1 1.0000 condition_record_support_limited 20 0 0 Angioedema,_hereditary,_7 1 low_record_burden_interpretation_limited low_record_burden_gene MYOD1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene MYOD1 mondo_mondo_0008048_mesh_d020914_medgen_c4551952_omim_160150_orphanet_169189 Autosomal dominant centronuclear myopathy MONDO:MONDO:0008048,MeSH:D020914,MedGen:C4551952,OMIM:160150,Orphanet:169189 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_centronuclear_myopathy 5 low_record_burden_interpretation_limited low_record_burden_gene MYOD1 human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis_multiplex_congenita 5 low_record_burden_interpretation_limited low_record_burden_gene MYOC mondo_mondo_0100553_medgen_c0339573_omim_137760 Primary open angle glaucoma MONDO:MONDO:0100553,MedGen:C0339573,OMIM:137760 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_open_angle_glaucoma 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYOC medgen_c4016750 GLAUCOMA 1, OPEN ANGLE, A, DIGENIC MedGen:C4016750 1 1 1.0000 condition_record_support_limited 20 0 1 GLAUCOMA_1,_OPEN_ANGLE,_A,_DIGENIC 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO9B human_phenotype_ontology_hp_0007055_human_phenotype_ontology_hp_0007141_human_phenotype_ontology_hp_0007237_medgen_c1112256 Sensorimotor neuropathy Human_Phenotype_Ontology:HP:0007055,Human_Phenotype_Ontology:HP:0007141,Human_Phenotype_Ontology:HP:0007237,MedGen:C1112256 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorimotor_neuropathy 1 low_record_burden_interpretation_limited low_record_burden_gene MYO9B human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Muscle weakness Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 1 1 1.0000 condition_record_support_limited 20 0 1 Muscle_weakness 1 low_record_burden_interpretation_limited low_record_burden_gene MYO7A human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 0 Sensorineural_hearing_loss_disorder 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO7A human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO7A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO7A mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_breast_ovarian_cancer_syndrome 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO7A human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Bilateral sensorineural hearing impairment Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_sensorineural_hearing_impairment 898 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO6 mondo_mondo_0016424_medgen_c4304831_orphanet_228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome MONDO:MONDO:0016424,MedGen:C4304831,Orphanet:228012 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_sensorineural_hearing_loss-hypertrophic_cardiomyopathy_syndrome 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO6 mondo_mondo_0009183_medgen_c5676875_omim_226730_orphanet_79403 Junctional epidermolysis bullosa with pyloric atresia MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403 1 1 1.0000 condition_record_support_limited 20 0 1 Junctional_epidermolysis_bullosa_with_pyloric_atresia 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO6 mondo_mondo_0003233_medgen_c0270736_omim_ps190300 Essential tremor MONDO:MONDO:0003233,MedGen:C0270736,OMIM:PS190300 1 1 1.0000 condition_record_support_limited 20 0 1 Essential_tremor 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO6 human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 1.0000 condition_record_support_limited 20 0 0 Ear_malformation 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO6 mondo_mondo_0019587_medgen_c5779548_omim_ps124900_orphanet_90635 Autosomal dominant nonsyndromic hearing loss MONDO:MONDO:0019587,MedGen:C5779548,OMIM:PS124900,Orphanet:90635 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_nonsyndromic_hearing_loss 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO5A human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 10 low_record_burden_interpretation_limited low_record_burden_gene MYO5A human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 1.0000 condition_record_support_limited 20 0 1 Nystagmus 10 low_record_burden_interpretation_limited low_record_burden_gene MYO5A mondo_mondo_0012220_medgen_c1836573_omim_609227_orphanet_381_orphanet_79478 Griscelli syndrome type 3 MONDO:MONDO:0012220,MedGen:C1836573,OMIM:609227,Orphanet:381,Orphanet:79478 1 1 1.0000 condition_record_support_limited 20 0 0 Griscelli_syndrome_type_3 10 low_record_burden_interpretation_limited low_record_burden_gene MYO5A human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 10 low_record_burden_interpretation_limited low_record_burden_gene MYO5A human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 1.0000 condition_record_support_limited 20 0 1 Dystonic_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene MYO5A human_phenotype_ontology_hp_0008278_medgen_c4024710 Cerebellar cortical atrophy Human_Phenotype_Ontology:HP:0008278,MedGen:C4024710 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_cortical_atrophy 10 low_record_burden_interpretation_limited low_record_burden_gene MYO3A mesh_c537845_medgen_c1842137 nonsyndromic sensorineural hearing loss MeSH:C537845,MedGen:C1842137 1 1 1.0000 condition_record_support_limited 20 0 1 nonsyndromic_sensorineural_hearing_loss 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO3A human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorineural_hearing_loss_disorder 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYO1B mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 1 low_record_burden_interpretation_limited low_record_burden_gene MYO1A mondo_mondo_0976268_medgen_c6012715_omim_621179 Diarrhea 15, congenital MONDO:MONDO:0976268,MedGen:C6012715,OMIM:621179 1 1 1.0000 condition_record_support_limited 20 0 1 Diarrhea_15,_congenital 1 low_record_burden_interpretation_limited low_record_burden_gene MYO1A mondo_mondo_0000824_medgen_c6013449_omim_ps214700 Congenital diarrhea MONDO:MONDO:0000824,MedGen:C6013449,OMIM:PS214700 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_diarrhea 1 low_record_burden_interpretation_limited low_record_burden_gene MYO19 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene MYO18B mondo_mondo_0018958_medgen_c0206157_omim_ps161800_orphanet_607 Nemaline myopathy MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607 1 1 1.0000 condition_record_support_limited 20 0 1 Nemaline_myopathy 140 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO18B human_phenotype_ontology_hp_0004602_human_phenotype_ontology_hp_0004636_mondo_mondo_0001029_medgen_c0022738_omim_ps118100_orphanet_2345 Klippel-Feil syndrome Human_Phenotype_Ontology:HP:0004602,Human_Phenotype_Ontology:HP:0004636,MONDO:MONDO:0001029,MedGen:C0022738,OMIM:PS118100,Orphanet:2345 1 1 1.0000 condition_record_support_limited 20 0 1 Klippel-Feil_syndrome 140 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO18B hp_0003549 HP:0003549 . 1 1 1.0000 condition_record_support_limited 20 0 0 HP:0003549 140 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYO16 myo16_associated_developmental_delay MYO16-associated developmental delay . 1 1 1.0000 condition_record_support_limited 20 0 0 MYO16-associated_developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene MYO15A childhood_onset_hearing_loss Childhood onset hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Childhood_onset_hearing_loss 714 large_gene_or_donor_burden_stress_case donor_burden_stress MYO15A mondo_mondo_0008057_medgen_c2607929_omim_160980_orphanet_1359 Carney complex, type 1 MONDO:MONDO:0008057,MedGen:C2607929,OMIM:160980,Orphanet:1359 1 1 1.0000 condition_record_support_limited 20 0 1 Carney_complex,_type_1 714 large_gene_or_donor_burden_stress_case donor_burden_stress MYO15A mondo_mondo_0010986_medgen_c1832828_omim_601071_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 9 MONDO:MONDO:0010986,MedGen:C1832828,OMIM:601071,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_nonsyndromic_hearing_loss_9 714 large_gene_or_donor_burden_stress_case donor_burden_stress MYO10 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene MYMK mymk_related_disorder MYMK-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MYMK-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene MYLK3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene MYLK mondo_mondo_0100354_medgen_c5542316_omim_249210 Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MONDO:MONDO:0100354,MedGen:C5542316,OMIM:249210 1 1 1.0000 condition_record_support_limited 20 0 1 Megacystis-microcolon-intestinal_hypoperistalsis_syndrome_1 73 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYLK mondo_mondo_0025986_medgen_c1608393_omim_ps249210_orphanet_2241 Megacystis, microcolon, hypoperistalsis syndrome MONDO:MONDO:0025986,MedGen:C1608393,OMIM:PS249210,Orphanet:2241 1 1 1.0000 condition_record_support_limited 20 0 1 Megacystis,_microcolon,_hypoperistalsis_syndrome 73 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYLK isolated_thoracic_aortic_aneurysm Isolated thoracic aortic aneurysm . 1 1 1.0000 condition_record_support_limited 20 0 0 Isolated_thoracic_aortic_aneurysm 73 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYL9 mondo_mondo_0020754_medgen_c5542197_omim_155310_orphanet_2604 Visceral myopathy 1 MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604 1 1 1.0000 condition_record_support_limited 20 0 0 Visceral_myopathy_1 1 low_record_burden_interpretation_limited low_record_burden_gene MYL5 mondo_mondo_0013429_medgen_c3151107_omim_613801_orphanet_791 Retinitis pigmentosa 40 MONDO:MONDO:0013429,MedGen:C3151107,OMIM:613801,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa_40 1 low_record_burden_interpretation_limited low_record_burden_gene MYL4 mondo_mondo_0018054_medgen_c3468561_omim_ps608583_orphanet_334 Familial atrial fibrillation MONDO:MONDO:0018054,MedGen:C3468561,OMIM:PS608583,Orphanet:334 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_atrial_fibrillation 15 low_record_burden_interpretation_limited low_record_burden_gene MYL3 mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 Primary familial hypertrophic cardiomyopathy MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_familial_hypertrophic_cardiomyopathy 5 low_record_burden_interpretation_limited low_record_burden_gene MYL3 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy 5 low_record_burden_interpretation_limited low_record_burden_gene MYL2 mondo_mondo_0859168_medgen_c5561937_omim_619424 Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424 1 1 1.0000 condition_record_support_limited 20 0 1 Myopathy,_myofibrillar,_12,_infantile-onset,_with_cardiomyopathy 17 low_record_burden_interpretation_limited low_record_burden_gene MYL2 myl2_related_disorder MYL2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MYL2-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene MYL2 human_phenotype_ontology_hp_0100613_medgen_c4022012 Death in early adulthood Human_Phenotype_Ontology:HP:0100613,MedGen:C4022012 1 1 1.0000 condition_record_support_limited 20 0 1 Death_in_early_adulthood 17 low_record_burden_interpretation_limited low_record_burden_gene MYL2 mondo_mondo_0009711_medgen_c0546264_orphanet_2020 Congenital myopathy with fiber type disproportion MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_myopathy_with_fiber_type_disproportion 17 low_record_burden_interpretation_limited low_record_burden_gene MYL2 mondo_mondo_0005453_medgen_c0152021 Congenital heart disease MONDO:MONDO:0005453,MedGen:C0152021 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_heart_disease 17 low_record_burden_interpretation_limited low_record_burden_gene MYL1 mondo_mondo_0034109_medgen_c5193081_omim_618414_orphanet_544602 Congenital myopathy with reduced type 2 muscle fibers MONDO:MONDO:0034109,MedGen:C5193081,OMIM:618414,Orphanet:544602 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_myopathy_with_reduced_type_2_muscle_fibers 1 low_record_burden_interpretation_limited low_record_burden_gene MYH9 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH9 human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 1.0000 condition_record_support_limited 20 0 1 Obesity 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH9 human_phenotype_ontology_hp_0007587_medgen_c1968565 Numerous pigmented freckles Human_Phenotype_Ontology:HP:0007587,MedGen:C1968565 1 1 1.0000 condition_record_support_limited 20 0 1 Numerous_pigmented_freckles 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH9 may_hegglin_disorder May-Hegglin Disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 May-Hegglin_Disorder 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH9 human_phenotype_ontology_hp_0011877_medgen_c1096367 Increased mean platelet volume Human_Phenotype_Ontology:HP:0011877,MedGen:C1096367 1 1 1.0000 condition_record_support_limited 20 0 1 Increased_mean_platelet_volume 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH9 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH9 human_phenotype_ontology_hp_0000822_human_phenotype_ontology_hp_0004949_human_phenotype_ontology_hp_0005126_mondo_mondo_0005044_medgen_c0020538 Hypertensive disorder Human_Phenotype_Ontology:HP:0000822,Human_Phenotype_Ontology:HP:0004949,Human_Phenotype_Ontology:HP:0005126,MONDO:MONDO:0005044,MedGen:C0020538 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertensive_disorder 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH9 human_phenotype_ontology_hp_0000421_medgen_c0014591 Epistaxis Human_Phenotype_Ontology:HP:0000421,MedGen:C0014591 1 1 1.0000 condition_record_support_limited 20 0 1 Epistaxis 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH9 medgen_c0011053 Deafness MedGen:C0011053 1 1 1.0000 condition_record_support_limited 20 0 1 Deafness 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH9 human_phenotype_ontology_hp_0012524_medgen_c4022866 Abnormal platelet shape Human_Phenotype_Ontology:HP:0012524,MedGen:C4022866 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_platelet_shape 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH9 human_phenotype_ontology_hp_0011875_medgen_c0855742 Abnormal platelet morphology Human_Phenotype_Ontology:HP:0011875,MedGen:C0855742 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_platelet_morphology 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH9 human_phenotype_ontology_hp_0011869_medgen_c0855740 Abnormal platelet function Human_Phenotype_Ontology:HP:0011869,MedGen:C0855740 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_platelet_function 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH9 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH8 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene MYH8 mondo_mondo_0012137_medgen_c1837245_omim_608837_orphanet_319340 Carney complex - trismus - pseudocamptodactyly syndrome MONDO:MONDO:0012137,MedGen:C1837245,OMIM:608837,Orphanet:319340 1 1 1.0000 condition_record_support_limited 20 0 1 Carney_complex_-_trismus_-_pseudocamptodactyly_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene MYH7B human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 12 low_record_burden_interpretation_limited low_record_burden_gene MYH7B human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrophic_cardiomyopathy 12 low_record_burden_interpretation_limited low_record_burden_gene MYH7B mesh_c565277_medgen_c1853863 Dilated cardiomyopathy with left ventricular noncompaction MeSH:C565277,MedGen:C1853863 1 1 1.0000 condition_record_support_limited 20 0 1 Dilated_cardiomyopathy_with_left_ventricular_noncompaction 12 low_record_burden_interpretation_limited low_record_burden_gene MYH7 mondo_mondo_0016195_medgen_c5680832_orphanet_209185 Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7) MONDO:MONDO:0016195,MedGen:C5680832,Orphanet:209185 1 1 1.0000 condition_record_support_limited 20 0 1 Neuromuscular_disease_caused_by_qualitative_or_quantitative_defects_of_beta-myosin_heavy_chain_(MYH7) 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH7 mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 Neuromuscular disease MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 1 1 1.0000 condition_record_support_limited 20 0 1 Neuromuscular_disease 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH7 human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 1.0000 condition_record_support_limited 20 0 1 Myopathy 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH7 human_phenotype_ontology_hp_0012819_mondo_mondo_0004496_medgen_c0027059 Myocarditis Human_Phenotype_Ontology:HP:0012819,MONDO:MONDO:0004496,MedGen:C0027059 1 1 1.0000 condition_record_support_limited 20 0 1 Myocarditis 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH7 myh7_related_cardiomyopathy MYH7-related cardiomyopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 MYH7-related_cardiomyopathy 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH7 human_phenotype_ontology_hp_0002460_human_phenotype_ontology_hp_0002598_human_phenotype_ontology_hp_0002935_human_phenotype_ontology_hp_0003497_human_phenotype_ontology_hp_0006940_human_phenotype_ontology_hp_0009008_medgen_c0427065 Distal muscle weakness Human_Phenotype_Ontology:HP:0002460,Human_Phenotype_Ontology:HP:0002598,Human_Phenotype_Ontology:HP:0002935,Human_Phenotype_Ontology:HP:0003497,Human_Phenotype_Ontology:HP:0006940,Human_Phenotype_Ontology:HP:0009008,MedGen:C0427065 1 1 1.0000 condition_record_support_limited 20 0 0 Distal_muscle_weakness 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH7 mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 Congenital myopathy MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myopathy 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH7 human_phenotype_ontology_hp_0003741_human_phenotype_ontology_hp_0003793_mondo_mondo_0019950_medgen_c0699743_orphanet_97242 Congenital muscular dystrophy Human_Phenotype_Ontology:HP:0003741,Human_Phenotype_Ontology:HP:0003793,MONDO:MONDO:0019950,MedGen:C0699743,Orphanet:97242 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_muscular_dystrophy 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH7 human_phenotype_ontology_hp_0100749_medgen_c0008031 Chest pain Human_Phenotype_Ontology:HP:0100749,MedGen:C0008031 1 1 1.0000 condition_record_support_limited 20 0 1 Chest_pain 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH7 human_phenotype_ontology_hp_0012818_medgen_c4022713 Biventricular noncompaction cardiomyopathy Human_Phenotype_Ontology:HP:0012818,MedGen:C4022713 1 1 1.0000 condition_record_support_limited 20 0 1 Biventricular_noncompaction_cardiomyopathy 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH7 human_phenotype_ontology_hp_0001670_medgen_c0205700 Asymmetric septal hypertrophy Human_Phenotype_Ontology:HP:0001670,MedGen:C0205700 1 1 1.0000 condition_record_support_limited 20 0 1 Asymmetric_septal_hypertrophy 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH7 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 433 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH6 mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 Primary familial dilated cardiomyopathy MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_familial_dilated_cardiomyopathy 15 low_record_burden_interpretation_limited low_record_burden_gene MYH6 mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 1.0000 condition_record_support_limited 20 0 0 Long_QT_syndrome 15 low_record_burden_interpretation_limited low_record_burden_gene MYH6 human_phenotype_ontology_hp_0004383_mondo_mondo_0004933_medgen_c0152101_omim_ps241550_orphanet_2248 Hypoplastic left heart syndrome Human_Phenotype_Ontology:HP:0004383,MONDO:MONDO:0004933,MedGen:C0152101,OMIM:PS241550,Orphanet:2248 1 1 1.0000 condition_record_support_limited 20 0 0 Hypoplastic_left_heart_syndrome 15 low_record_burden_interpretation_limited low_record_burden_gene MYH6 mondo_mondo_0008647_medgen_c3495498_omim_192600 Hypertrophic cardiomyopathy 1 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 1 1 1.0000 condition_record_support_limited 20 0 0 Hypertrophic_cardiomyopathy_1 15 low_record_burden_interpretation_limited low_record_burden_gene MYH6 human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 1.0000 condition_record_support_limited 20 0 1 Heart,_malformation_of 15 low_record_burden_interpretation_limited low_record_burden_gene MYH6 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 1.0000 condition_record_support_limited 20 0 0 Cardiomyopathy 15 low_record_burden_interpretation_limited low_record_burden_gene MYH3 spondylocarpotarsal_fusion_syndrome_1a Spondylocarpotarsal fusion syndrome 1A . 1 1 1.0000 condition_record_support_limited 20 0 0 Spondylocarpotarsal_fusion_syndrome_1A 124 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH2 mondo_mondo_0019195_medgen_c4510610_orphanet_79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome MONDO:MONDO:0019195,MedGen:C4510610,Orphanet:79091 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_inclusion_body_myopathy-joint_contractures-ophthalmoplegia_syndrome 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH2 mondo_mondo_0018206_medgen_c5192594_orphanet_363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia MONDO:MONDO:0018206,MedGen:C5192594,Orphanet:363677 1 1 1.0000 condition_record_support_limited 20 0 1 Childhood-onset_autosomal_recessive_myopathy_with_external_ophthalmoplegia 117 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH15 mondo_mondo_0014335_medgen_c4014239_omim_615760_orphanet_404437 Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760,Orphanet:404437 1 1 1.0000 condition_record_support_limited 20 0 0 Diffuse_cerebral_and_cerebellar_atrophy_-_intractable_seizures_-_progressive_microcephaly_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene MYH14 mondo_mondo_0013711_medgen_c3280556_omim_614369_orphanet_397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome MONDO:MONDO:0013711,MedGen:C3280556,OMIM:614369,Orphanet:397744 1 1 1.0000 condition_record_support_limited 20 0 1 Peripheral_neuropathy-myopathy-hoarseness-hearing_loss_syndrome 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH14 mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 1.0000 condition_record_support_limited 20 0 0 Nonsyndromic_genetic_hearing_loss 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH11 mondo_mondo_0859157_medgen_c5543466_omim_619350 Visceral myopathy 2 MONDO:MONDO:0859157,MedGen:C5543466,OMIM:619350 1 1 1.0000 condition_record_support_limited 20 0 1 Visceral_myopathy_2 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH11 mondo_mondo_0020754_medgen_c5542197_omim_155310_orphanet_2604 Visceral myopathy 1 MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604 1 1 1.0000 condition_record_support_limited 20 0 1 Visceral_myopathy_1 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH11 human_phenotype_ontology_hp_0004753_human_phenotype_ontology_hp_0005180_mondo_mondo_0002870_medgen_c0040961 Tricuspid regurgitation Human_Phenotype_Ontology:HP:0004753,Human_Phenotype_Ontology:HP:0005180,MONDO:MONDO:0002870,MedGen:C0040961 1 1 1.0000 condition_record_support_limited 20 0 1 Tricuspid_regurgitation 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH11 human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Myopia Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 1 1 1.0000 condition_record_support_limited 20 0 1 Myopia 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH11 human_phenotype_ontology_hp_0001653_mondo_mondo_1030008_medgen_c0026266 Mitral regurgitation Human_Phenotype_Ontology:HP:0001653,MONDO:MONDO:1030008,MedGen:C0026266 1 1 1.0000 condition_record_support_limited 20 0 1 Mitral_regurgitation 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH11 mondo_mondo_0025986_medgen_c1608393_omim_ps249210_orphanet_2241 Megacystis, microcolon, hypoperistalsis syndrome MONDO:MONDO:0025986,MedGen:C1608393,OMIM:PS249210,Orphanet:2241 1 1 1.0000 condition_record_support_limited 20 0 1 Megacystis,_microcolon,_hypoperistalsis_syndrome 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH11 human_phenotype_ontology_hp_0002616_human_phenotype_ontology_hp_0002631_human_phenotype_ontology_hp_0004750_human_phenotype_ontology_hp_0005125_medgen_c1298820 Aortic root aneurysm Human_Phenotype_Ontology:HP:0002616,Human_Phenotype_Ontology:HP:0002631,Human_Phenotype_Ontology:HP:0004750,Human_Phenotype_Ontology:HP:0005125,MedGen:C1298820 1 1 1.0000 condition_record_support_limited 20 0 1 Aortic_root_aneurysm 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH11 human_phenotype_ontology_hp_0001711_medgen_c0344905 Abnormal left ventricle morphology Human_Phenotype_Ontology:HP:0001711,MedGen:C0344905 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_left_ventricle_morphology 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MYH10 human_phenotype_ontology_hp_0000438_human_phenotype_ontology_hp_0000445_medgen_c0426421 Wide nose Human_Phenotype_Ontology:HP:0000438,Human_Phenotype_Ontology:HP:0000445,MedGen:C0426421 1 1 1.0000 condition_record_support_limited 20 0 1 Wide_nose 13 low_record_burden_interpretation_limited low_record_burden_gene MYH10 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene MYH10 human_phenotype_ontology_hp_0011800_human_phenotype_ontology_hp_0040199_medgen_c1853242 Midface retrusion Human_Phenotype_Ontology:HP:0011800,Human_Phenotype_Ontology:HP:0040199,MedGen:C1853242 1 1 1.0000 condition_record_support_limited 20 0 1 Midface_retrusion 13 low_record_burden_interpretation_limited low_record_burden_gene MYH10 mondo_mondo_0700281_medgen_cn378591 MYH10-related neurodevelopmental disorder with congenital anomalies MONDO:MONDO:0700281,MedGen:CN378591 1 1 1.0000 condition_record_support_limited 20 0 0 MYH10-related_neurodevelopmental_disorder_with_congenital_anomalies 13 low_record_burden_interpretation_limited low_record_burden_gene MYH10 human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Hypertelorism Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertelorism 13 low_record_burden_interpretation_limited low_record_burden_gene MYH10 human_phenotype_ontology_hp_0000537_medgen_c1303003 Epicanthus inversus Human_Phenotype_Ontology:HP:0000537,MedGen:C1303003 1 1 1.0000 condition_record_support_limited 20 0 1 Epicanthus_inversus 13 low_record_burden_interpretation_limited low_record_burden_gene MYH10 human_phenotype_ontology_hp_0007970_medgen_c0266573 Congenital ptosis Human_Phenotype_Ontology:HP:0007970,MedGen:C0266573 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_ptosis 13 low_record_burden_interpretation_limited low_record_burden_gene MYH10 human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Congenital ocular coloboma Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_ocular_coloboma 13 low_record_burden_interpretation_limited low_record_burden_gene MYH10 complex_neurodevelopmental_disorders Complex neurodevelopmental disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Complex_neurodevelopmental_disorders 13 low_record_burden_interpretation_limited low_record_burden_gene MYH10 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 13 low_record_burden_interpretation_limited low_record_burden_gene MYF6 condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene MYEF2 medgen_c2676042 Skin/hair/eye pigmentation, variation in, 4 MedGen:C2676042 1 1 1.0000 condition_record_support_limited 20 0 0 Skin/hair/eye_pigmentation,_variation_in,_4 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYEF2 slc24a5_related_disorder SLC24A5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SLC24A5-related_disorder 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYEF2 mondo_mondo_0018910_medgen_c0078918_omim_ps203100_orphanet_55 Oculocutaneous albinism MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55 1 1 1.0000 condition_record_support_limited 20 0 1 Oculocutaneous_albinism 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYEF2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYD88 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene MYCBP2 mycbp2_associated_neurodevelopmental_disorder MYCBP2-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 MYCBP2-associated_neurodevelopmental_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene MYC condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene MYBPC3 hypertrophic_cardiomyopathie hypertrophic cardiomyopathie . 1 1 1.0000 condition_record_support_limited 20 0 1 hypertrophic_cardiomyopathie 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 human_phenotype_ontology_hp_0001649_human_phenotype_ontology_hp_0001720_medgen_c0039231 Tachycardia Human_Phenotype_Ontology:HP:0001649,Human_Phenotype_Ontology:HP:0001720,MedGen:C0039231 1 1 1.0000 condition_record_support_limited 20 0 1 Tachycardia 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 efo_the_experimental_factor_ontology_efo_0005303_mesh_d013398_medgen_c0038644_omim_272120 SUDDEN INFANT DEATH SYNDROME EFO:_The_Experimental_Factor_Ontology:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120 1 1 1.0000 condition_record_support_limited 20 0 1 SUDDEN_INFANT_DEATH_SYNDROME 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 human_phenotype_ontology_hp_0006678_human_phenotype_ontology_hp_0006682_medgen_c0151636 Premature ventricular contraction Human_Phenotype_Ontology:HP:0006678,Human_Phenotype_Ontology:HP:0006682,MedGen:C0151636 1 1 1.0000 condition_record_support_limited 20 0 1 Premature_ventricular_contraction 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 human_phenotype_ontology_hp_0012817_medgen_c1839832 Noncompaction cardiomyopathy Human_Phenotype_Ontology:HP:0012817,MedGen:C1839832 1 1 1.0000 condition_record_support_limited 20 0 1 Noncompaction_cardiomyopathy 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 1.0000 condition_record_support_limited 20 0 0 Long_QT_syndrome 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 human_phenotype_ontology_hp_0001712_human_phenotype_ontology_hp_0005171_medgen_c0149721 Left ventricular hypertrophy Human_Phenotype_Ontology:HP:0001712,Human_Phenotype_Ontology:HP:0005171,MedGen:C0149721 1 1 1.0000 condition_record_support_limited 20 0 1 Left_ventricular_hypertrophy 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 mesh_d056830_medgen_c2717907 Isolated Noncompaction of the Ventricular Myocardium MeSH:D056830,MedGen:C2717907 1 1 1.0000 condition_record_support_limited 20 0 1 Isolated_Noncompaction_of_the_Ventricular_Myocardium 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 human_phenotype_ontology_hp_0012722_medgen_c0018794 Heart block Human_Phenotype_Ontology:HP:0012722,MedGen:C0018794 1 1 1.0000 condition_record_support_limited 20 0 1 Heart_block 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 human_phenotype_ontology_hp_0002094_medgen_c0013404 Dyspnea Human_Phenotype_Ontology:HP:0002094,MedGen:C0013404 1 1 1.0000 condition_record_support_limited 20 0 1 Dyspnea 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 mondo_mondo_0011482_medgen_c1858154_omim_604765_orphanet_154 Dilated cardiomyopathy 1I MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765,Orphanet:154 1 1 1.0000 condition_record_support_limited 20 0 1 Dilated_cardiomyopathy_1I 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 Dilated cardiomyopathy 1A MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 1 1 1.0000 condition_record_support_limited 20 0 1 Dilated_cardiomyopathy_1A 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC3 mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 Arrhythmogenic right ventricular cardiomyopathy MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 1 1 1.0000 condition_record_support_limited 20 0 1 Arrhythmogenic_right_ventricular_cardiomyopathy 1046 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MYBPC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 14 low_record_burden_interpretation_limited low_record_burden_gene MYBPC1 human_phenotype_ontology_hp_0005684_mondo_mondo_0019942_medgen_c0265213_omim_ps108120_orphanet_97120 Distal arthrogryposis Human_Phenotype_Ontology:HP:0005684,MONDO:MONDO:0019942,MedGen:C0265213,OMIM:PS108120,Orphanet:97120 1 1 1.0000 condition_record_support_limited 20 0 0 Distal_arthrogryposis 14 low_record_burden_interpretation_limited low_record_burden_gene MYBPC1 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_musculature 14 low_record_burden_interpretation_limited low_record_burden_gene MXRA8 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 1 low_record_burden_interpretation_limited low_record_burden_gene MXI1 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 5 low_record_burden_interpretation_limited low_record_burden_gene MXI1 human_phenotype_ontology_hp_0100697_mondo_mondo_0002675_medgen_c0206729 Neurofibrosarcoma Human_Phenotype_Ontology:HP:0100697,MONDO:MONDO:0002675,MedGen:C0206729 1 1 1.0000 condition_record_support_limited 20 0 0 Neurofibrosarcoma 5 low_record_burden_interpretation_limited low_record_burden_gene MVK autosomal_recessive_mvk_related_disorders autosomal recessive MVK-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 autosomal_recessive_MVK-related_disorders 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MVK human_phenotype_ontology_hp_0002912_human_phenotype_ontology_hp_0003123_human_phenotype_ontology_hp_0008295_mondo_mondo_0002012_mesh_c537358_medgen_c0268583_omim_ps251000 Methylmalonic acidemia Human_Phenotype_Ontology:HP:0002912,Human_Phenotype_Ontology:HP:0003123,Human_Phenotype_Ontology:HP:0008295,MONDO:MONDO:0002012,MeSH:C537358,MedGen:C0268583,OMIM:PS251000 1 1 1.0000 condition_record_support_limited 20 0 1 Methylmalonic_acidemia 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MVD mondo_mondo_0023246_mesh_d017499_medgen_c0302319 Linear porokeratosis MONDO:MONDO:0023246,MeSH:D017499,MedGen:C0302319 1 1 1.0000 condition_record_support_limited 20 0 0 Linear_porokeratosis 7 low_record_burden_interpretation_limited low_record_burden_gene MUTYH human_phenotype_ontology_hp_0006722_medgen_c1868072 Small intestine carcinoid Human_Phenotype_Ontology:HP:0006722,MedGen:C1868072 1 1 1.0000 condition_record_support_limited 20 0 1 Small_intestine_carcinoid 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH mondo_mondo_0956983_medgen_cn377565 Pleomorphic xanthoastrocytoma BRAF mutant MONDO:MONDO:0956983,MedGen:CN377565 1 1 1.0000 condition_record_support_limited 20 0 1 Pleomorphic_xanthoastrocytoma_BRAF_mutant 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH human_phenotype_ontology_hp_0025318_mondo_mondo_0005140_medgen_c4721610 Ovarian carcinoma Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610 1 1 1.0000 condition_record_support_limited 20 0 1 Ovarian_carcinoma 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH human_phenotype_ontology_hp_0002885_mondo_mondo_0007959_mesh_d008527_medgen_c0025149_omim_155255_orphanet_616 Medulloblastoma Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616 1 1 1.0000 condition_record_support_limited 20 0 1 Medulloblastoma 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH mondo_mondo_0858940_medgen_c5669919_orphanet_695136 Infant-type hemispheric glioma MONDO:MONDO:0858940,MedGen:C5669919,Orphanet:695136 1 1 1.0000 condition_record_support_limited 20 0 1 Infant-type_hemispheric_glioma 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH mondo_mondo_0011803_medgen_c1846564_omim_607259_orphanet_99013 Hereditary spastic paraplegia 7 MONDO:MONDO:0011803,MedGen:C1846564,OMIM:607259,Orphanet:99013 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia_7 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH mondo_mondo_0018604_medgen_c3896578_orphanet_440437 Familial colorectal cancer type X MONDO:MONDO:0018604,MedGen:C3896578,Orphanet:440437 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_colorectal_cancer_type_X 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH human_phenotype_ontology_hp_0002888_mondo_mondo_0016698_mesh_d004806_medgen_c0014474_orphanet_251636 Ependymoma Human_Phenotype_Ontology:HP:0002888,MONDO:MONDO:0016698,MeSH:D004806,MedGen:C0014474,Orphanet:251636 1 1 1.0000 condition_record_support_limited 20 0 1 Ependymoma 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Endometrial carcinoma Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 1 1 1.0000 condition_record_support_limited 20 0 1 Endometrial_carcinoma 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH mondo_mondo_0011962_medgen_c0007103 Endometrial cancer MONDO:MONDO:0011962,MedGen:C0007103 1 1 1.0000 condition_record_support_limited 20 0 1 Endometrial_cancer 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH human_phenotype_ontology_hp_0033703_mondo_mondo_0005505_medgen_c1266177_orphanet_251946 Dysembryoplastic neuroepithelial tumor Human_Phenotype_Ontology:HP:0033703,MONDO:MONDO:0005505,MedGen:C1266177,Orphanet:251946 1 1 1.0000 condition_record_support_limited 20 0 1 Dysembryoplastic_neuroepithelial_tumor 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH human_phenotype_ontology_hp_0200063_mondo_mondo_0021392_medgen_c0949059 Colorectal polyposis Human_Phenotype_Ontology:HP:0200063,MONDO:MONDO:0021392,MedGen:C0949059 1 1 1.0000 condition_record_support_limited 20 0 1 Colorectal_polyposis 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH colorectal_adenomatous_polyposis_autosomal_recessive_with_pilomatricomas Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas MedGen:CN068899 1 1 1.0000 condition_record_support_limited 20 0 1 Colorectal_adenomatous_polyposis,_autosomal_recessive,_with_pilomatricomas 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH human_phenotype_ontology_hp_0100273_mondo_mondo_0005401_mesh_d003110_medgen_c0009375 Colonic neoplasm Human_Phenotype_Ontology:HP:0100273,MONDO:MONDO:0005401,MeSH:D003110,MedGen:C0009375 1 1 1.0000 condition_record_support_limited 20 0 1 Colonic_neoplasm 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUTYH medgen_c3472624 B lymphoblastic leukemia lymphoma, no ICD-O subtype MedGen:C3472624 1 1 1.0000 condition_record_support_limited 20 0 1 B_lymphoblastic_leukemia_lymphoma,_no_ICD-O_subtype 411 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MUSK human_phenotype_ontology_hp_0010307_medgen_c0038450 Stridor Human_Phenotype_Ontology:HP:0010307,MedGen:C0038450 1 1 1.0000 condition_record_support_limited 20 0 1 Stridor 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MUSK human_phenotype_ontology_hp_0002093_human_phenotype_ontology_hp_0004893_human_phenotype_ontology_hp_0005937_human_phenotype_ontology_hp_0006542_medgen_c0035229 Respiratory insufficiency Human_Phenotype_Ontology:HP:0002093,Human_Phenotype_Ontology:HP:0004893,Human_Phenotype_Ontology:HP:0005937,Human_Phenotype_Ontology:HP:0006542,MedGen:C0035229 1 1 1.0000 condition_record_support_limited 20 0 1 Respiratory_insufficiency 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MUSK musk_related_disorder MUSK-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MUSK-related_disorder 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MUSK human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Delayed gross motor development Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_gross_motor_development 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MUSK mondo_mondo_0012157_medgen_c1837091_omim_608931_orphanet_590 Congenital myasthenic syndrome 4C MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orphanet:590 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myasthenic_syndrome_4C 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MUSK human_phenotype_ontology_hp_0001488_medgen_c1865916 Bilateral ptosis Human_Phenotype_Ontology:HP:0001488,MedGen:C1865916 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_ptosis 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MUSK autosomal_recessive_musk_related_disorders Autosomal recessive MUSK-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_MUSK-related_disorders 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MUS81 mondo_mondo_0009052_medgen_c5848058_omim_219100_orphanet_90349 Cutis laxa, autosomal recessive, type 1A MONDO:MONDO:0009052,MedGen:C5848058,OMIM:219100,Orphanet:90349 1 1 1.0000 condition_record_support_limited 20 0 1 Cutis_laxa,_autosomal_recessive,_type_1A 3 low_record_burden_interpretation_limited low_record_burden_gene MUS81 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 0 Cardiovascular_phenotype 3 low_record_burden_interpretation_limited low_record_burden_gene MUC5B susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 1 low_record_burden_interpretation_limited low_record_burden_gene MTX2 human_phenotype_ontology_hp_0000335_human_phenotype_ontology_hp_0005328_human_phenotype_ontology_hp_0005333_medgen_c1857710 Progeroid facial appearance Human_Phenotype_Ontology:HP:0000335,Human_Phenotype_Ontology:HP:0005328,Human_Phenotype_Ontology:HP:0005333,MedGen:C1857710 1 1 1.0000 condition_record_support_limited 20 0 1 Progeroid_facial_appearance 7 low_record_burden_interpretation_limited low_record_burden_gene MTX2 human_phenotype_ontology_hp_0008844_human_phenotype_ontology_hp_0008865_human_phenotype_ontology_hp_0008868_human_phenotype_ontology_hp_0008897_human_phenotype_ontology_hp_0008901_human_phenotype_ontology_hp_0008918_medgen_c1859778 Postnatal growth retardation Human_Phenotype_Ontology:HP:0008844,Human_Phenotype_Ontology:HP:0008865,Human_Phenotype_Ontology:HP:0008868,Human_Phenotype_Ontology:HP:0008897,Human_Phenotype_Ontology:HP:0008901,Human_Phenotype_Ontology:HP:0008918,MedGen:C1859778 1 1 1.0000 condition_record_support_limited 20 0 1 Postnatal_growth_retardation 7 low_record_burden_interpretation_limited low_record_burden_gene MTX2 human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Micrognathia Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 1.0000 condition_record_support_limited 20 0 1 Micrognathia 7 low_record_burden_interpretation_limited low_record_burden_gene MTX2 human_phenotype_ontology_hp_0000822_human_phenotype_ontology_hp_0004949_human_phenotype_ontology_hp_0005126_mondo_mondo_0005044_medgen_c0020538 Hypertensive disorder Human_Phenotype_Ontology:HP:0000822,Human_Phenotype_Ontology:HP:0004949,Human_Phenotype_Ontology:HP:0005126,MONDO:MONDO:0005044,MedGen:C0020538 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertensive_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene MTX2 human_phenotype_ontology_hp_0011334_medgen_c4021159 Facial shape deformation Human_Phenotype_Ontology:HP:0011334,MedGen:C4021159 1 1 1.0000 condition_record_support_limited 20 0 1 Facial_shape_deformation 7 low_record_burden_interpretation_limited low_record_burden_gene MTX2 human_phenotype_ontology_hp_0000678_medgen_c0040433 Dental crowding Human_Phenotype_Ontology:HP:0000678,MedGen:C0040433 1 1 1.0000 condition_record_support_limited 20 0 1 Dental_crowding 7 low_record_burden_interpretation_limited low_record_burden_gene MTX2 human_phenotype_ontology_hp_0001870_medgen_c4025739 Acroosteolysis of distal phalanges (feet) Human_Phenotype_Ontology:HP:0001870,MedGen:C4025739 1 1 1.0000 condition_record_support_limited 20 0 1 Acroosteolysis_of_distal_phalanges_(feet) 7 low_record_burden_interpretation_limited low_record_burden_gene MTX2 human_phenotype_ontology_hp_0001000_human_phenotype_ontology_hp_0007582_human_phenotype_ontology_hp_0200045_medgen_c1260926 Abnormality of skin pigmentation Human_Phenotype_Ontology:HP:0001000,Human_Phenotype_Ontology:HP:0007582,Human_Phenotype_Ontology:HP:0200045,MedGen:C1260926 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_skin_pigmentation 7 low_record_burden_interpretation_limited low_record_burden_gene MTX2 human_phenotype_ontology_hp_0000002_medgen_c4025901 Abnormality of body height Human_Phenotype_Ontology:HP:0000002,MedGen:C4025901 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_body_height 7 low_record_burden_interpretation_limited low_record_burden_gene MTX2 human_phenotype_ontology_hp_0000209_human_phenotype_ontology_hp_0000277_medgen_c4025870 Abnormal mandible morphology Human_Phenotype_Ontology:HP:0000209,Human_Phenotype_Ontology:HP:0000277,MedGen:C4025870 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_mandible_morphology 7 low_record_burden_interpretation_limited low_record_burden_gene MTTP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 179 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTSS2 condition_not_provided condition not provided MedGen:CN169374 1 1 1.0000 condition_record_support_limited 20 1 1 not_specified 2 low_record_burden_interpretation_limited low_record_burden_gene MTSS2 mondo_mondo_0000508_medgen_c5680525_orphanet_183763 Syndromic intellectual disability MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 1.0000 condition_record_support_limited 20 0 1 Syndromic_intellectual_disability 2 low_record_burden_interpretation_limited low_record_burden_gene MTSS2 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 2 low_record_burden_interpretation_limited low_record_burden_gene MTSS2 mtss2_related_neurodevelopmental_disorder MTSS2-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MTSS2-related_neurodevelopmental_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene MTSS2 medgen_c5678431 Iron deposition in globus pallidus MedGen:C5678431 1 1 1.0000 condition_record_support_limited 20 0 1 Iron_deposition_in_globus_pallidus 2 low_record_burden_interpretation_limited low_record_burden_gene MTSS2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 2 low_record_burden_interpretation_limited low_record_burden_gene MTSS2 mondo_mondo_0859303_medgen_c5774238_omim_620086 Intellectual developmental disorder with ocular anomalies and distinctive facial features MONDO:MONDO:0859303,MedGen:C5774238,OMIM:620086 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_developmental_disorder_with_ocular_anomalies_and_distinctive_facial_features 2 low_record_burden_interpretation_limited low_record_burden_gene MTSS2 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 2 low_record_burden_interpretation_limited low_record_burden_gene MTSS2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 2 low_record_burden_interpretation_limited low_record_burden_gene MTRR mondo_mondo_0018964_medgen_c4303479_omim_ps236270_orphanet_622 Homocystinuria without methylmalonic aciduria MONDO:MONDO:0018964,MedGen:C4303479,OMIM:PS236270,Orphanet:622 1 1 1.0000 condition_record_support_limited 20 0 1 Homocystinuria_without_methylmalonic_aciduria 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTRFR mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTRFR mtrfr_related_disorder MTRFR-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 MTRFR-related_disorder 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTRFR mondo_mondo_0019551_medgen_c0393807_orphanet_90120 Hereditary motor and sensory neuropathy with optic atrophy MONDO:MONDO:0019551,MedGen:C0393807,Orphanet:90120 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_motor_and_sensory_neuropathy_with_optic_atrophy 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTRFR human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 1 Epileptic_encephalopathy 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTRFR human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_morphology 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTR human_phenotype_ontology_hp_0002187_medgen_c3161330 Profound intellectual disability Human_Phenotype_Ontology:HP:0002187,MedGen:C3161330 1 1 1.0000 condition_record_support_limited 20 0 1 Profound_intellectual_disability 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTR human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTR mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTR mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTR disorders_of_intracellular_cobalamin_metabolism Disorders of Intracellular Cobalamin Metabolism MedGen:CN043592 1 1 1.0000 condition_record_support_limited 20 0 1 Disorders_of_Intracellular_Cobalamin_Metabolism 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTPAP condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene MTPAP mondo_mondo_0013354_medgen_c3150925_omim_613672_orphanet_254343 Spastic ataxia 4 MONDO:MONDO:0013354,MedGen:C3150925,OMIM:613672,Orphanet:254343 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_ataxia_4 2 low_record_burden_interpretation_limited low_record_burden_gene MTPAP human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia 2 low_record_burden_interpretation_limited low_record_burden_gene MTOR human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 52 large_gene_or_donor_burden_stress_case donor_burden_stress MTOR medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_intellectual_disability 52 large_gene_or_donor_burden_stress_case donor_burden_stress MTOR mondo_mondo_0019716_medgen_c2986703_orphanet_93460 Overgrowth syndrome MONDO:MONDO:0019716,MedGen:C2986703,Orphanet:93460 1 1 1.0000 condition_record_support_limited 20 0 1 Overgrowth_syndrome 52 large_gene_or_donor_burden_stress_case donor_burden_stress MTOR human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 52 large_gene_or_donor_burden_stress_case donor_burden_stress MTOR mtor_related_megalencephaly_and_pigmentary_mosaicism_in_skin MTOR-related megalencephaly and pigmentary mosaicism in skin . 1 1 1.0000 condition_record_support_limited 20 0 1 MTOR-related_megalencephaly_and_pigmentary_mosaicism_in_skin 52 large_gene_or_donor_burden_stress_case donor_burden_stress MTOR human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 52 large_gene_or_donor_burden_stress_case donor_burden_stress MTOR human_phenotype_ontology_hp_0007206_mondo_mondo_0020492_medgen_c0431391_orphanet_99802 Hemimegalencephaly Human_Phenotype_Ontology:HP:0007206,MONDO:MONDO:0020492,MedGen:C0431391,Orphanet:99802 1 1 1.0000 condition_record_support_limited 20 0 1 Hemimegalencephaly 52 large_gene_or_donor_burden_stress_case donor_burden_stress MTO1 mondo_mondo_0016387_medgen_c5679825_orphanet_223713 Mitochondrial oxidative phosphorylation disorder MONDO:MONDO:0016387,MedGen:C5679825,Orphanet:223713 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_oxidative_phosphorylation_disorder 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTO1 mto1_related_disorder MTO1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MTO1-related_disorder 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTO1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTO1 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTM1 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_paraplegia 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTM1 medgen_c5680828_orphanet_207110 Qualitative or quantitative defects of myotubularin MedGen:C5680828,Orphanet:207110 1 1 1.0000 condition_record_support_limited 20 0 1 Qualitative_or_quantitative_defects_of_myotubularin 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTM1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTM1 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 0 Generalized_hypotonia 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTM1 mondo_mondo_0009711_medgen_c0546264_orphanet_2020 Congenital myopathy with fiber type disproportion MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myopathy_with_fiber_type_disproportion 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTHFR human_phenotype_ontology_hp_0001257_medgen_c0026838 Spasticity Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 1 1 1.0000 condition_record_support_limited 20 0 1 Spasticity 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTHFR human_phenotype_ontology_hp_0000241_human_phenotype_ontology_hp_0000259_human_phenotype_ontology_hp_0005484_human_phenotype_ontology_hp_0005499_medgen_c0431352 Secondary microcephaly Human_Phenotype_Ontology:HP:0000241,Human_Phenotype_Ontology:HP:0000259,Human_Phenotype_Ontology:HP:0005484,Human_Phenotype_Ontology:HP:0005499,MedGen:C0431352 1 1 1.0000 condition_record_support_limited 20 0 1 Secondary_microcephaly 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTHFR medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_intellectual_disability 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTHFR human_phenotype_ontology_hp_0045005_mondo_mondo_0018075_medgen_c0027794_orphanet_3388_orphanet_823 Neural tube defect Human_Phenotype_Ontology:HP:0045005,MONDO:MONDO:0018075,MedGen:C0027794,Orphanet:3388,Orphanet:823 1 1 1.0000 condition_record_support_limited 20 0 1 Neural_tube_defect 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTHFR mthfr_related_disorder MTHFR-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MTHFR-related_disorder 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTHFR human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTHFR human_phenotype_ontology_hp_0012469_medgen_c3887898 Infantile spasms Human_Phenotype_Ontology:HP:0012469,MedGen:C3887898 1 1 1.0000 condition_record_support_limited 20 0 1 Infantile_spasms 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTHFR human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTHFR human_phenotype_ontology_hp_0007058_medgen_c4024945 Generalized cerebral atrophy/hypoplasia Human_Phenotype_Ontology:HP:0007058,MedGen:C4024945 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_cerebral_atrophy/hypoplasia 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTHFR human_phenotype_ontology_hp_0001306_human_phenotype_ontology_hp_0002069_human_phenotype_ontology_hp_0002407_human_phenotype_ontology_hp_0007252_medgen_c0494475 Bilateral tonic-clonic seizure Human_Phenotype_Ontology:HP:0001306,Human_Phenotype_Ontology:HP:0002069,Human_Phenotype_Ontology:HP:0002407,Human_Phenotype_Ontology:HP:0007252,MedGen:C0494475 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_tonic-clonic_seizure 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTHFR human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 200 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTHFD1 mthfd1_related_disorder MTHFD1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MTHFD1-related_disorder 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MTFMT mondo_mondo_0030983_medgen_c5677013_omim_619947 Waardenburg syndrome, IIa 2F MONDO:MONDO:0030983,MedGen:C5677013,OMIM:619947 1 1 1.0000 condition_record_support_limited 20 0 0 Waardenburg_syndrome,_IIa_2F 32 compact_adjacent_exon_block_opportunity local_compact_architecture MTFMT human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 32 compact_adjacent_exon_block_opportunity local_compact_architecture MTFMT human_phenotype_ontology_hp_0002465_medgen_c1848207 Poor speech Human_Phenotype_Ontology:HP:0002465,MedGen:C1848207 1 1 1.0000 condition_record_support_limited 20 0 1 Poor_speech 32 compact_adjacent_exon_block_opportunity local_compact_architecture MTFMT mondo_mondo_0016387_medgen_c5679825_orphanet_223713 Mitochondrial oxidative phosphorylation disorder MONDO:MONDO:0016387,MedGen:C5679825,Orphanet:223713 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_oxidative_phosphorylation_disorder 32 compact_adjacent_exon_block_opportunity local_compact_architecture MTFMT mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 1 1 1.0000 condition_record_support_limited 20 0 1 Leigh_syndrome 32 compact_adjacent_exon_block_opportunity local_compact_architecture MTFMT human_phenotype_ontology_hp_0006915_medgen_c1859200 Inability to walk by childhood/adolescence Human_Phenotype_Ontology:HP:0006915,MedGen:C1859200 1 1 1.0000 condition_record_support_limited 20 0 1 Inability_to_walk_by_childhood/adolescence 32 compact_adjacent_exon_block_opportunity local_compact_architecture MTFMT human_phenotype_ontology_hp_0011923_medgen_c2677650 Decreased activity of mitochondrial complex I Human_Phenotype_Ontology:HP:0011923,MedGen:C2677650 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_activity_of_mitochondrial_complex_I 32 compact_adjacent_exon_block_opportunity local_compact_architecture MTFMT human_phenotype_ontology_hp_0003688_human_phenotype_ontology_hp_0003734_human_phenotype_ontology_hp_0009006_medgen_c4021724 Cytochrome C oxidase-negative muscle fibers Human_Phenotype_Ontology:HP:0003688,Human_Phenotype_Ontology:HP:0003734,Human_Phenotype_Ontology:HP:0009006,MedGen:C4021724 1 1 1.0000 condition_record_support_limited 20 0 1 Cytochrome_C_oxidase-negative_muscle_fibers 32 compact_adjacent_exon_block_opportunity local_compact_architecture MTFMT human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 32 compact_adjacent_exon_block_opportunity local_compact_architecture MTCL1 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebellar_ataxia 1 low_record_burden_interpretation_limited low_record_burden_gene MTA3 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene MSX1 human_phenotype_ontology_hp_0000677_human_phenotype_ontology_hp_0000702_medgen_c4082304 Oligodontia Human_Phenotype_Ontology:HP:0000677,Human_Phenotype_Ontology:HP:0000702,MedGen:C4082304 1 1 1.0000 condition_record_support_limited 20 0 0 Oligodontia 29 compact_adjacent_exon_block_opportunity local_compact_architecture MSX1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 29 compact_adjacent_exon_block_opportunity local_compact_architecture MSTO1 possible_mitochondrial_disorder_nuclear_genes Possible mitochondrial disorder - nuclear genes . 1 1 1.0000 condition_record_support_limited 20 0 1 Possible_mitochondrial_disorder_-_nuclear_genes 17 low_record_burden_interpretation_limited low_record_burden_gene MSTO1 human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 1.0000 condition_record_support_limited 20 0 0 Myopathy 17 low_record_burden_interpretation_limited low_record_burden_gene MSTO1 human_phenotype_ontology_hp_0003737_human_phenotype_ontology_hp_0008960_mondo_mondo_0009637_medgen_c0162670_orphanet_206966 Inborn mitochondrial myopathy Human_Phenotype_Ontology:HP:0003737,Human_Phenotype_Ontology:HP:0008960,MONDO:MONDO:0009637,MedGen:C0162670,Orphanet:206966 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_mitochondrial_myopathy 17 low_record_burden_interpretation_limited low_record_burden_gene MSTN mondo_mondo_0013598_medgen_c2931112_omim_614160_orphanet_275534 Myostatin-related muscle hypertrophy MONDO:MONDO:0013598,MedGen:C2931112,OMIM:614160,Orphanet:275534 1 1 1.0000 condition_record_support_limited 20 0 0 Myostatin-related_muscle_hypertrophy 1 low_record_burden_interpretation_limited low_record_burden_gene MST1R human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 1 low_record_burden_interpretation_limited low_record_burden_gene MSRB3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene MSRB3 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 10 low_record_burden_interpretation_limited low_record_burden_gene MSRB3 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive 10 low_record_burden_interpretation_limited low_record_burden_gene MSRB3 medgen_c3887873 Hearing loss MedGen:C3887873 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_loss 10 low_record_burden_interpretation_limited low_record_burden_gene MSR1 human_phenotype_ontology_hp_0011459_mondo_mondo_0019086_medgen_c0152018_orphanet_70482 Carcinoma of esophagus Human_Phenotype_Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482 1 1 1.0000 condition_record_support_limited 20 0 0 Carcinoma_of_esophagus 8 low_record_burden_interpretation_limited low_record_burden_gene MSR1 medgen_c3277074 BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA MedGen:C3277074 1 1 1.0000 condition_record_support_limited 20 0 0 BARRETT_ESOPHAGUS/ESOPHAGEAL_ADENOCARCINOMA 8 low_record_burden_interpretation_limited low_record_burden_gene MSMO1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 3 low_record_burden_interpretation_limited low_record_burden_gene MSL3 x_linked_neurodevelopmental_delay_dysmorphism_and_progressive_neurological_disorder X-linked neurodevelopmental delay, dysmorphism, and progressive neurological disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 X-linked_neurodevelopmental_delay,_dysmorphism,_and_progressive_neurological_disorder 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSL3 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSL3 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MSL2 syndromic_neurodevelopmental_disorder Syndromic neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 Syndromic_neurodevelopmental_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene MSL2 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 12 low_record_burden_interpretation_limited low_record_burden_gene MSH6 human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Rhabdomyosarcoma Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 1 1 1.0000 condition_record_support_limited 20 0 1 Rhabdomyosarcoma 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH6 human_phenotype_ontology_hp_0025318_mondo_mondo_0005140_medgen_c4721610 Ovarian carcinoma Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610 1 1 1.0000 condition_record_support_limited 20 0 1 Ovarian_carcinoma 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH6 mondo_mondo_0013699_medgen_c1838333_omim_614337_orphanet_144 Lynch syndrome 4 MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144 1 1 1.0000 condition_record_support_limited 20 0 1 Lynch_syndrome_4 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH6 mondo_mondo_0009265_medgen_c1961835_omim_230800_orphanet_355_orphanet_77259 Gaucher disease type I MONDO:MONDO:0009265,MedGen:C1961835,OMIM:230800,Orphanet:355,Orphanet:77259 1 1 1.0000 condition_record_support_limited 20 0 1 Gaucher_disease_type_I 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH6 mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 Familial prostate cancer MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_prostate_cancer 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH6 mondo_mondo_0023113_medgen_cn280943 Familial colorectal cancer MONDO:MONDO:0023113,MedGen:CN280943 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_colorectal_cancer 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH6 mondo_mondo_0011962_medgen_c0007103 Endometrial cancer MONDO:MONDO:0011962,MedGen:C0007103 1 1 1.0000 condition_record_support_limited 20 0 0 Endometrial_cancer 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH6 human_phenotype_ontology_hp_0040276_mondo_mondo_0002271_medgen_c0338106 Colon adenocarcinoma Human_Phenotype_Ontology:HP:0040276,MONDO:MONDO:0002271,MedGen:C0338106 1 1 1.0000 condition_record_support_limited 20 0 1 Colon_adenocarcinoma 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH6 human_phenotype_ontology_hp_0007129_medgen_c4024934 Cerebellar medulloblastoma Human_Phenotype_Ontology:HP:0007129,MedGen:C4024934 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_medulloblastoma 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH6 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 1 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 1 Breast-ovarian_cancer,_familial,_susceptibility_to,_1 2246 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH5 mondo_mondo_0044317_medgen_c4479510_omim_617442 Premature ovarian failure 13 MONDO:MONDO:0044317,MedGen:C4479510,OMIM:617442 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure_13 7 low_record_burden_interpretation_limited low_record_burden_gene MSH5 msh5_related_disorder MSH5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 MSH5-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene MSH5 medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 1 1 1.0000 condition_record_support_limited 20 0 0 Genetic_non-acquired_premature_ovarian_failure 7 low_record_burden_interpretation_limited low_record_burden_gene MSH5 human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Azoospermia Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 1.0000 condition_record_support_limited 20 0 0 Azoospermia 7 low_record_burden_interpretation_limited low_record_burden_gene MSH4 human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Premature ovarian insufficiency Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 1 1 1.0000 condition_record_support_limited 20 0 1 Premature_ovarian_insufficiency 15 low_record_burden_interpretation_limited low_record_burden_gene MSH4 mondo_mondo_0001913_mesh_d009845_medgen_c0028960 Oligospermia MONDO:MONDO:0001913,MeSH:D009845,MedGen:C0028960 1 1 1.0000 condition_record_support_limited 20 0 1 Oligospermia 15 low_record_burden_interpretation_limited low_record_burden_gene MSH2 mondo_mondo_0001464_medgen_c0153436 Sigmoid colon cancer MONDO:MONDO:0001464,MedGen:C0153436 1 1 1.0000 condition_record_support_limited 20 0 1 Sigmoid_colon_cancer 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH2 human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Rhabdomyosarcoma Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 1 1 1.0000 condition_record_support_limited 20 0 1 Rhabdomyosarcoma 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH2 human_phenotype_ontology_hp_0000138_human_phenotype_ontology_hp_0000146_mondo_mondo_0003282_medgen_c0029927 Ovarian cyst Human_Phenotype_Ontology:HP:0000138,Human_Phenotype_Ontology:HP:0000146,MONDO:MONDO:0003282,MedGen:C0029927 1 1 1.0000 condition_record_support_limited 20 0 1 Ovarian_cyst 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH2 mondo_mondo_0002238_medgen_c0153439 Malignant tumor of ascending colon MONDO:MONDO:0002238,MedGen:C0153439 1 1 1.0000 condition_record_support_limited 20 0 1 Malignant_tumor_of_ascending_colon 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH2 mondo_mondo_0013699_medgen_c1838333_omim_614337_orphanet_144 Lynch syndrome 4 MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144 1 1 1.0000 condition_record_support_limited 20 0 1 Lynch_syndrome_4 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH2 human_phenotype_ontology_hp_0006716_medgen_c4024989 Hereditary nonpolyposis colorectal carcinoma Human_Phenotype_Ontology:HP:0006716,MedGen:C4024989 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_nonpolyposis_colorectal_carcinoma 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH2 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_breast_ovarian_cancer_syndrome 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH2 mondo_mondo_0018177_mesh_d005909_medgen_c0017636_orphanet_360 Glioblastoma MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360 1 1 1.0000 condition_record_support_limited 20 0 0 Glioblastoma 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MSH2 human_phenotype_ontology_hp_0002253_human_phenotype_ontology_hp_0005860_medgen_c0012819 Colonic diverticula Human_Phenotype_Ontology:HP:0002253,Human_Phenotype_Ontology:HP:0005860,MedGen:C0012819 1 1 1.0000 condition_record_support_limited 20 0 1 Colonic_diverticula 2070 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MRTFA mondo_mondo_0030013_medgen_c5394265_omim_618847 Immunodeficiency 66 MONDO:MONDO:0030013,MedGen:C5394265,OMIM:618847 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_66 1 low_record_burden_interpretation_limited low_record_burden_gene MRPS7 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorineural_hearing_loss_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene MRPS7 human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Premature ovarian insufficiency Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 1 1 1.0000 condition_record_support_limited 20 0 1 Premature_ovarian_insufficiency 1 low_record_burden_interpretation_limited low_record_burden_gene MRPS34 mrps34_related_disorder MRPS34-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MRPS34-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene MRPS34 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 1 1 1.0000 condition_record_support_limited 20 0 1 Leigh_syndrome 10 low_record_burden_interpretation_limited low_record_burden_gene MRPS28 mondo_mondo_0033537_medgen_c5436476_omim_618958 Combined oxidative phosphorylation deficiency 47 MONDO:MONDO:0033537,MedGen:C5436476,OMIM:618958 1 1 1.0000 condition_record_support_limited 20 0 0 Combined_oxidative_phosphorylation_deficiency_47 1 low_record_burden_interpretation_limited low_record_burden_gene MRPS25 mondo_mondo_0033570_medgen_c5436623_omim_619025 Combined oxidative phosphorylation deficiency 50 MONDO:MONDO:0033570,MedGen:C5436623,OMIM:619025 1 1 1.0000 condition_record_support_limited 20 0 0 Combined_oxidative_phosphorylation_deficiency_50 1 low_record_burden_interpretation_limited low_record_burden_gene MRPS23 mondo_mondo_0033534_medgen_c5436466_omim_618952 Combined oxidative phosphorylation deficiency 46 MONDO:MONDO:0033534,MedGen:C5436466,OMIM:618952 1 1 1.0000 condition_record_support_limited 20 0 0 Combined_oxidative_phosphorylation_deficiency_46 1 low_record_burden_interpretation_limited low_record_burden_gene MRPS22 mondo_mondo_0020857_medgen_c4748263_omim_618117 Ovarian dysgenesis 7 MONDO:MONDO:0020857,MedGen:C4748263,OMIM:618117 1 1 1.0000 condition_record_support_limited 20 0 1 Ovarian_dysgenesis_7 19 low_record_burden_interpretation_limited low_record_burden_gene MRPS22 mondo_mondo_0009299_mesh_d023961_medgen_c0685837_omim_ps233300_orphanet_243 46 XX gonadal dysgenesis MONDO:MONDO:0009299,MeSH:D023961,MedGen:C0685837,OMIM:PS233300,Orphanet:243 1 1 1.0000 condition_record_support_limited 20 0 1 46_XX_gonadal_dysgenesis 19 low_record_burden_interpretation_limited low_record_burden_gene MRPS16 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene MRPS14 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene MRPS14 mondo_mondo_0032712_medgen_c5193064_omim_618378 Combined oxidative phosphorylation deficiency 38 MONDO:MONDO:0032712,MedGen:C5193064,OMIM:618378 1 1 1.0000 condition_record_support_limited 20 0 1 Combined_oxidative_phosphorylation_deficiency_38 1 low_record_burden_interpretation_limited low_record_burden_gene MRPL50 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 1 low_record_burden_interpretation_limited low_record_burden_gene MRPL49 mondo_mondo_0012510_medgen_c1864843_omim_610498_orphanet_254920 Combined oxidative phosphorylation defect type 2 MONDO:MONDO:0012510,MedGen:C1864843,OMIM:610498,Orphanet:254920 1 1 1.0000 condition_record_support_limited 20 0 1 Combined_oxidative_phosphorylation_defect_type_2 6 low_record_burden_interpretation_limited low_record_burden_gene MRPL44 mondo_mondo_0012191_medgen_c1836797_omim_609060_orphanet_137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060,Orphanet:137681 1 1 1.0000 condition_record_support_limited 20 0 0 Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1 5 low_record_burden_interpretation_limited low_record_burden_gene MRPL42 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene MRPL3 medgen_c0235820 Neonatal encephalopathy MedGen:C0235820 1 1 1.0000 condition_record_support_limited 20 0 0 Neonatal_encephalopathy 5 low_record_burden_interpretation_limited low_record_burden_gene MRPL12 mondo_mondo_0033533_medgen_c5436461_omim_618951 Combined oxidative phosphorylation deficiency 45 MONDO:MONDO:0033533,MedGen:C5436461,OMIM:618951 1 1 1.0000 condition_record_support_limited 20 0 0 Combined_oxidative_phosphorylation_deficiency_45 1 low_record_burden_interpretation_limited low_record_burden_gene MRE11 human_phenotype_ontology_hp_0030409_medgen_c1319314 Renal transitional cell carcinoma Human_Phenotype_Ontology:HP:0030409,MedGen:C1319314 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_transitional_cell_carcinoma 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MRE11 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MRE11 mre11_related_disorder MRE11-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MRE11-related_disorder 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MRE11 human_phenotype_ontology_hp_0100273_mondo_mondo_0005401_mesh_d003110_medgen_c0009375 Colonic neoplasm Human_Phenotype_Ontology:HP:0100273,MONDO:MONDO:0005401,MeSH:D003110,MedGen:C0009375 1 1 1.0000 condition_record_support_limited 20 0 1 Colonic_neoplasm 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MRAS medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 5 low_record_burden_interpretation_limited low_record_burden_gene MRAP condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene MRAP mrap_related_disorder MRAP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MRAP-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene MPZL2 monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 16 low_record_burden_interpretation_limited low_record_burden_gene MPZL2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 16 low_record_burden_interpretation_limited low_record_burden_gene MPZL2 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive 16 low_record_burden_interpretation_limited low_record_burden_gene MPZ human_phenotype_ontology_hp_0001295_human_phenotype_ontology_hp_0001309_human_phenotype_ontology_hp_0001337_medgen_c0040822 Tremor Human_Phenotype_Ontology:HP:0001295,Human_Phenotype_Ontology:HP:0001309,Human_Phenotype_Ontology:HP:0001337,MedGen:C0040822 1 1 1.0000 condition_record_support_limited 20 0 1 Tremor 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPZ human_phenotype_ontology_hp_0000763_human_phenotype_ontology_hp_0003410_human_phenotype_ontology_hp_0006815_human_phenotype_ontology_hp_0007043_human_phenotype_ontology_hp_0007142_mondo_mondo_0002321_medgen_c0151313 Sensory neuropathy Human_Phenotype_Ontology:HP:0000763,Human_Phenotype_Ontology:HP:0003410,Human_Phenotype_Ontology:HP:0006815,Human_Phenotype_Ontology:HP:0007043,Human_Phenotype_Ontology:HP:0007142,MONDO:MONDO:0002321,MedGen:C0151313 1 1 1.0000 condition_record_support_limited 20 0 1 Sensory_neuropathy 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPZ human_phenotype_ontology_hp_0007055_human_phenotype_ontology_hp_0007141_human_phenotype_ontology_hp_0007237_medgen_c1112256 Sensorimotor neuropathy Human_Phenotype_Ontology:HP:0007055,Human_Phenotype_Ontology:HP:0007141,Human_Phenotype_Ontology:HP:0007237,MedGen:C1112256 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorimotor_neuropathy 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPZ human_phenotype_ontology_hp_0001761_medgen_c0728829 Pes cavus Human_Phenotype_Ontology:HP:0001761,MedGen:C0728829 1 1 1.0000 condition_record_support_limited 20 0 1 Pes_cavus 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPZ mondo_mondo_0020128_medgen_c0085084_orphanet_98503 Motor neuron disease MONDO:MONDO:0020128,MedGen:C0085084,Orphanet:98503 1 1 1.0000 condition_record_support_limited 20 0 0 Motor_neuron_disease 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPZ human_phenotype_ontology_hp_0002534_human_phenotype_ontology_hp_0003690_medgen_c0587246 Limb muscle weakness Human_Phenotype_Ontology:HP:0002534,Human_Phenotype_Ontology:HP:0003690,MedGen:C0587246 1 1 1.0000 condition_record_support_limited 20 0 1 Limb_muscle_weakness 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPZ human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPZ hereditary_neuropathy_or_pain_disorder Hereditary neuropathy or pain disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_neuropathy_or_pain_disorder 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPZ human_phenotype_ontology_hp_0002178_human_phenotype_ontology_hp_0002547_human_phenotype_ontology_hp_0003445_human_phenotype_ontology_hp_0007279_medgen_c4021727 EMG: neuropathic changes Human_Phenotype_Ontology:HP:0002178,Human_Phenotype_Ontology:HP:0002547,Human_Phenotype_Ontology:HP:0003445,Human_Phenotype_Ontology:HP:0007279,MedGen:C4021727 1 1 1.0000 condition_record_support_limited 20 0 1 EMG:_neuropathic_changes 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPZ human_phenotype_ontology_hp_0002460_human_phenotype_ontology_hp_0002598_human_phenotype_ontology_hp_0002935_human_phenotype_ontology_hp_0003497_human_phenotype_ontology_hp_0006940_human_phenotype_ontology_hp_0009008_medgen_c0427065 Distal muscle weakness Human_Phenotype_Ontology:HP:0002460,Human_Phenotype_Ontology:HP:0002598,Human_Phenotype_Ontology:HP:0002935,Human_Phenotype_Ontology:HP:0003497,Human_Phenotype_Ontology:HP:0006940,Human_Phenotype_Ontology:HP:0009008,MedGen:C0427065 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_muscle_weakness 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPZ human_phenotype_ontology_hp_0003442_human_phenotype_ontology_hp_0003714_human_phenotype_ontology_hp_0006975_human_phenotype_ontology_hp_0008944_human_phenotype_ontology_hp_0008949_human_phenotype_ontology_hp_0009001_medgen_c1836451 Distal lower limb amyotrophy Human_Phenotype_Ontology:HP:0003442,Human_Phenotype_Ontology:HP:0003714,Human_Phenotype_Ontology:HP:0006975,Human_Phenotype_Ontology:HP:0008944,Human_Phenotype_Ontology:HP:0008949,Human_Phenotype_Ontology:HP:0009001,MedGen:C1836451 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_lower_limb_amyotrophy 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPZ mondo_mondo_0015352_mesh_c580044_medgen_c3711384_orphanet_139525 Distal hereditary motor neuropathy type 2 MONDO:MONDO:0015352,MeSH:C580044,MedGen:C3711384,Orphanet:139525 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_hereditary_motor_neuropathy_type_2 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPZ human_phenotype_ontology_hp_0000761_human_phenotype_ontology_hp_0000762_human_phenotype_ontology_hp_0007118_human_phenotype_ontology_hp_0007218_human_phenotype_ontology_hp_0007231_medgen_c1857640 Decreased nerve conduction velocity Human_Phenotype_Ontology:HP:0000761,Human_Phenotype_Ontology:HP:0000762,Human_Phenotype_Ontology:HP:0007118,Human_Phenotype_Ontology:HP:0007218,Human_Phenotype_Ontology:HP:0007231,MedGen:C1857640 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_nerve_conduction_velocity 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPZ mondo_mondo_0011674_medgen_c1847902_omim_606482_orphanet_100044_orphanet_228179 Charcot-Marie-Tooth disease dominant intermediate B MONDO:MONDO:0011674,MedGen:C1847902,OMIM:606482,Orphanet:100044,Orphanet:228179 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease_dominant_intermediate_B 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPZ autosomal_recessive_dejerine_sottas_syndrome Autosomal recessive Dejerine-Sottas syndrome MedGen:CN069172 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_Dejerine-Sottas_syndrome 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPV17 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_disease 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPV17 mitochondrial_dna_maintenance_disorder Mitochondrial DNA maintenance disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_DNA_maintenance_disorder 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPV17 mpv17_related_mitochondrial_dna_maintenance_defect MPV17-related mitochondrial DNA maintenance defect . 1 1 1.0000 condition_record_support_limited 20 0 1 MPV17-related_mitochondrial_DNA_maintenance_defect 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPP4 human_phenotype_ontology_hp_0000424_human_phenotype_ontology_hp_0000431_human_phenotype_ontology_hp_0004500_human_phenotype_ontology_hp_0004504_human_phenotype_ontology_hp_0004650_human_phenotype_ontology_hp_0200139_medgen_c1849367 Wide nasal bridge Human_Phenotype_Ontology:HP:0000424,Human_Phenotype_Ontology:HP:0000431,Human_Phenotype_Ontology:HP:0004500,Human_Phenotype_Ontology:HP:0004504,Human_Phenotype_Ontology:HP:0004650,Human_Phenotype_Ontology:HP:0200139,MedGen:C1849367 1 1 1.0000 condition_record_support_limited 20 0 1 Wide_nasal_bridge 1 low_record_burden_interpretation_limited low_record_burden_gene MPP4 human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 1.0000 condition_record_support_limited 20 0 1 Strabismus 1 low_record_burden_interpretation_limited low_record_burden_gene MPP4 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 1 low_record_burden_interpretation_limited low_record_burden_gene MPP4 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene MPP4 human_phenotype_ontology_hp_0000156_human_phenotype_ontology_hp_0000218_human_phenotype_ontology_hp_0009080_human_phenotype_ontology_hp_0009082_human_phenotype_ontology_hp_0009097_medgen_c0240635 High palate Human_Phenotype_Ontology:HP:0000156,Human_Phenotype_Ontology:HP:0000218,Human_Phenotype_Ontology:HP:0009080,Human_Phenotype_Ontology:HP:0009082,Human_Phenotype_Ontology:HP:0009097,MedGen:C0240635 1 1 1.0000 condition_record_support_limited 20 0 1 High_palate 1 low_record_burden_interpretation_limited low_record_burden_gene MPP4 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene MPP4 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 1 low_record_burden_interpretation_limited low_record_burden_gene MPLKIP mondo_mondo_0011125_medgen_c1866504_omim_601675_orphanet_33364 Trichothiodystrophy 1, photosensitive MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675,Orphanet:33364 1 1 1.0000 condition_record_support_limited 20 0 0 Trichothiodystrophy_1,_photosensitive 22 compact_adjacent_exon_block_opportunity local_compact_architecture MPL mondo_mondo_0800305_medgen_cn077888 Myelofibrosis with myeloid metaplasia MONDO:MONDO:0800305,MedGen:CN077888 1 1 1.0000 condition_record_support_limited 20 0 0 Myelofibrosis_with_myeloid_metaplasia 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPL mondo_mondo_0013367_medgen_c3150943_omim_613688_orphanet_101016_orphanet_768 Long QT syndrome 2 MONDO:MONDO:0013367,MedGen:C3150943,OMIM:613688,Orphanet:101016,Orphanet:768 1 1 1.0000 condition_record_support_limited 20 0 1 Long_QT_syndrome_2 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPL human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_bleeding 209 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MPEG1 mondo_mondo_0012085_medgen_c1837618_omim_608644_orphanet_244 Primary ciliary dyskinesia 3 MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_ciliary_dyskinesia_3 2 low_record_burden_interpretation_limited low_record_burden_gene MPEG1 mondo_mondo_0030973_medgen_c5543173_omim_619223 Immunodeficiency 77 MONDO:MONDO:0030973,MedGen:C5543173,OMIM:619223 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_77 2 low_record_burden_interpretation_limited low_record_burden_gene MOV10L1 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility 4 low_record_burden_interpretation_limited low_record_burden_gene MOV10L1 human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Azoospermia Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 1.0000 condition_record_support_limited 20 0 0 Azoospermia 4 low_record_burden_interpretation_limited low_record_burden_gene MORC2 morc2_related_neurodevelopmental_disorders MORC2-related neurodevelopmental disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 MORC2-related_neurodevelopmental_disorders 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MORC2 morc2_related_developmental_disorder MORC2-related developmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MORC2-related_developmental_disorder 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MORC2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MORC2 mondo_mondo_0018894_medgen_c0393541_orphanet_53739 Distal spinal muscular atrophy MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_spinal_muscular_atrophy 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MON1A mondo_mondo_0000824_medgen_c6013449_omim_ps214700 Congenital diarrhea MONDO:MONDO:0000824,MedGen:C6013449,OMIM:PS214700 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_diarrhea 1 low_record_burden_interpretation_limited low_record_burden_gene MOGS mogs_related_disorder MOGS-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MOGS-related_disorder 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MOG mondo_mondo_0013652_medgen_c3280266_omim_614250_orphanet_2073 Narcolepsy 7 MONDO:MONDO:0013652,MedGen:C3280266,OMIM:614250,Orphanet:2073 1 1 1.0000 condition_record_support_limited 20 0 0 Narcolepsy_7 1 low_record_burden_interpretation_limited low_record_burden_gene MOCS2 mondo_mondo_0009643_medgen_c1854988_omim_252150_orphanet_308386_orphanet_833 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MONDO:MONDO:0009643,MedGen:C1854988,OMIM:252150,Orphanet:308386,Orphanet:833 1 1 1.0000 condition_record_support_limited 20 0 1 Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_A 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MOCS2 human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MOCOS mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MNX1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 50 compact_adjacent_exon_block_opportunity local_compact_architecture MNX1 human_phenotype_ontology_hp_0000925_medgen_c4021789 Abnormality of the vertebral column Human_Phenotype_Ontology:HP:0000925,MedGen:C4021789 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_vertebral_column 50 compact_adjacent_exon_block_opportunity local_compact_architecture MNS1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene MNS1 human_phenotype_ontology_hp_0001696_mondo_mondo_0010029_medgen_c4551493_orphanet_101063 Situs inversus Human_Phenotype_Ontology:HP:0001696,MONDO:MONDO:0010029,MedGen:C4551493,Orphanet:101063 1 1 1.0000 condition_record_support_limited 20 0 1 Situs_inversus 8 low_record_burden_interpretation_limited low_record_burden_gene MMUT medgen_c0235820 Neonatal encephalopathy MedGen:C0235820 1 1 1.0000 condition_record_support_limited 20 0 0 Neonatal_encephalopathy 408 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMP21 mondo_mondo_0005453_medgen_c0152021 Congenital heart disease MONDO:MONDO:0005453,MedGen:C0152021 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_heart_disease 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMP20 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene MMP20 mmp20_related_disorder MMP20-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MMP20-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene MMP20 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene MMP2 mmp2_related_disorder MMP2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 MMP2-related_disorder 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMP19 mondo_mondo_0012687_medgen_c1969063_omim_611543_orphanet_464760 Familial cavitary optic disk anomaly MONDO:MONDO:0012687,MedGen:C1969063,OMIM:611543,Orphanet:464760 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_cavitary_optic_disk_anomaly 1 low_record_burden_interpretation_limited low_record_burden_gene MMP15 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene MMP13 mmp13_related_disorder MMP13-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MMP13-related_disorder 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MME mme_related_distal_hereditary_motor_neuropathies MME-related distal hereditary motor neuropathies . 1 1 1.0000 condition_record_support_limited 20 0 0 MME-related_distal_hereditary_motor_neuropathies 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MME mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MME mondo_mondo_0018949_medgen_c0751336_omim_ps160500_orphanet_599 Distal myopathy MONDO:MONDO:0018949,MedGen:C0751336,OMIM:PS160500,Orphanet:599 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_myopathy 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MME mondo_mondo_0019068_medgen_c4511239_orphanet_69063 Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization MONDO:MONDO:0019068,MedGen:C4511239,Orphanet:69063 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_membranous_nephropathy_due_to_maternal_anti-neutral_endopeptidase_alloimmunization 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MME mondo_mondo_0044640_medgen_cn294759_orphanet_495274 Charcot-Marie-Tooth disease type 2T MONDO:MONDO:0044640,MedGen:CN294759,Orphanet:495274 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease_type_2T 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MME mondo_mondo_0018993_medgen_c0270914_orphanet_64746 Charcot-Marie-Tooth disease type 2 MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease_type_2 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMACHC cblc_type_of_combined_methylmalonic_aciduria_and_homocystinuria cblC type of combined methylmalonic aciduria and homocystinuria . 1 1 1.0000 condition_record_support_limited 20 0 1 cblC_type_of_combined_methylmalonic_aciduria_and_homocystinuria 178 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMACHC human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 178 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMACHC mondo_mondo_0010185_medgen_c1848552_omim_277410_orphanet_622_orphanet_79283 Methylmalonic aciduria and homocystinuria type cblD MONDO:MONDO:0010185,MedGen:C1848552,OMIM:277410,Orphanet:622,Orphanet:79283 1 1 1.0000 condition_record_support_limited 20 0 1 Methylmalonic_aciduria_and_homocystinuria_type_cblD 178 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMACHC mondo_mondo_0016826_medgen_c5848324_omim_ps277400_orphanet_26 Methylmalonic aciduria and homocystinuria MONDO:MONDO:0016826,MedGen:C5848324,OMIM:PS277400,Orphanet:26 1 1 1.0000 condition_record_support_limited 20 0 1 Methylmalonic_aciduria_and_homocystinuria 178 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMACHC human_phenotype_ontology_hp_0012120_medgen_c1855119 Methylmalonic aciduria Human_Phenotype_Ontology:HP:0012120,MedGen:C1855119 1 1 1.0000 condition_record_support_limited 20 0 1 Methylmalonic_aciduria 178 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMACHC human_phenotype_ontology_hp_0002156_mondo_mondo_0004737_medgen_c0019880 Homocystinuria Human_Phenotype_Ontology:HP:0002156,MONDO:MONDO:0004737,MedGen:C0019880 1 1 1.0000 condition_record_support_limited 20 0 1 Homocystinuria 178 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMACHC mondo_mondo_0016244_medgen_c2931788_orphanet_2134 Atypical hemolytic-uremic syndrome MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134 1 1 1.0000 condition_record_support_limited 20 0 1 Atypical_hemolytic-uremic_syndrome 178 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMACHC human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 178 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMAB human_phenotype_ontology_hp_0012120_medgen_c1855119 Methylmalonic aciduria Human_Phenotype_Ontology:HP:0012120,MedGen:C1855119 1 1 1.0000 condition_record_support_limited 20 0 1 Methylmalonic_aciduria 108 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MMAA methylmalonic_aciduria_of_the_cbla_complementation_type Methylmalonic aciduria of the cblA complementation type . 1 1 1.0000 condition_record_support_limited 20 0 1 Methylmalonic_aciduria_of_the_cblA_complementation_type 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MLYCD mlycd_related_disorder MLYCD-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MLYCD-related_disorder 68 compact_adjacent_exon_block_opportunity local_compact_architecture MLYCD human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 68 compact_adjacent_exon_block_opportunity local_compact_architecture MLLT1 human_phenotype_ontology_hp_0000440_human_phenotype_ontology_hp_0000449_human_phenotype_ontology_hp_0000450_human_phenotype_ontology_hp_0003192_human_phenotype_ontology_hp_0003195_human_phenotype_ontology_hp_0003196_human_phenotype_ontology_hp_0005270_human_phenotype_ontology_hp_0200092_medgen_c1854114 Short nose Human_Phenotype_Ontology:HP:0000440,Human_Phenotype_Ontology:HP:0000449,Human_Phenotype_Ontology:HP:0000450,Human_Phenotype_Ontology:HP:0003192,Human_Phenotype_Ontology:HP:0003195,Human_Phenotype_Ontology:HP:0003196,Human_Phenotype_Ontology:HP:0005270,Human_Phenotype_Ontology:HP:0200092,MedGen:C1854114 1 1 1.0000 condition_record_support_limited 20 0 1 Short_nose 1 low_record_burden_interpretation_limited low_record_burden_gene MLLT1 human_phenotype_ontology_hp_0012469_medgen_c3887898 Infantile spasms Human_Phenotype_Ontology:HP:0012469,MedGen:C3887898 1 1 1.0000 condition_record_support_limited 20 0 1 Infantile_spasms 1 low_record_burden_interpretation_limited low_record_burden_gene MLLT1 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 1 low_record_burden_interpretation_limited low_record_burden_gene MLLT1 human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Hypertelorism Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertelorism 1 low_record_burden_interpretation_limited low_record_burden_gene MLLT1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene MLLT1 human_phenotype_ontology_hp_0002059_human_phenotype_ontology_hp_0002422_human_phenotype_ontology_hp_0006890_medgen_c0235946 Cerebral atrophy Human_Phenotype_Ontology:HP:0002059,Human_Phenotype_Ontology:HP:0002422,Human_Phenotype_Ontology:HP:0006890,MedGen:C0235946 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_atrophy 1 low_record_burden_interpretation_limited low_record_burden_gene MLLT1 human_phenotype_ontology_hp_0002536_human_phenotype_ontology_hp_0006900_medgen_c1856019 Abnormal cortical gyration Human_Phenotype_Ontology:HP:0002536,Human_Phenotype_Ontology:HP:0006900,MedGen:C1856019 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cortical_gyration 1 low_record_burden_interpretation_limited low_record_burden_gene MLIP mondo_mondo_0859322_medgen_c5774260_omim_620138 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 MONDO:MONDO:0859322,MedGen:C5774260,OMIM:620138 1 1 1.0000 condition_record_support_limited 20 0 0 Myopathy_with_myalgia,_increased_serum_creatine_kinase,_and_with_or_without_episodic_rhabdomyolysis_1 17 low_record_burden_interpretation_limited low_record_burden_gene MLIP mlip_related_disorder MLIP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 MLIP-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene MLIP mondo_mondo_0030934_medgen_c5543067_omim_619188 Intellectual developmental disorder, autosomal dominant 64 MONDO:MONDO:0030934,MedGen:C5543067,OMIM:619188 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_developmental_disorder,_autosomal_dominant_64 17 low_record_burden_interpretation_limited low_record_burden_gene MLH3 human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Endometrial carcinoma Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 1 1 1.0000 condition_record_support_limited 20 0 0 Endometrial_carcinoma 18 low_record_burden_interpretation_limited low_record_burden_gene MLH1 human_phenotype_ontology_hp_0006716_medgen_c4024989 Hereditary nonpolyposis colorectal carcinoma Human_Phenotype_Ontology:HP:0006716,MedGen:C4024989 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_nonpolyposis_colorectal_carcinoma 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MLH1 mondo_mondo_0023113_medgen_cn280943 Familial colorectal cancer MONDO:MONDO:0023113,MedGen:CN280943 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_colorectal_cancer 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MLH1 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 1 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 1 Breast-ovarian_cancer,_familial,_susceptibility_to,_1 1874 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MLC1 human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MLC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MLC1 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MLC1 human_phenotype_ontology_hp_0007222_human_phenotype_ontology_hp_0007305_medgen_c0338474 CNS demyelination Human_Phenotype_Ontology:HP:0007222,Human_Phenotype_Ontology:HP:0007305,MedGen:C0338474 1 1 1.0000 condition_record_support_limited 20 0 1 CNS_demyelination 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MKS1 human_phenotype_ontology_hp_0001583_medgen_c0240595 Rotary nystagmus Human_Phenotype_Ontology:HP:0001583,MedGen:C0240595 1 1 1.0000 condition_record_support_limited 20 0 1 Rotary_nystagmus 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MKS1 human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 1.0000 condition_record_support_limited 20 0 1 Nystagmus 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MKS1 human_phenotype_ontology_hp_0003058_human_phenotype_ontology_hp_0005049_human_phenotype_ontology_hp_0005057_human_phenotype_ontology_hp_0009826_medgen_c0239399 Limb undergrowth Human_Phenotype_Ontology:HP:0003058,Human_Phenotype_Ontology:HP:0005049,Human_Phenotype_Ontology:HP:0005057,Human_Phenotype_Ontology:HP:0009826,MedGen:C0239399 1 1 1.0000 condition_record_support_limited 20 0 1 Limb_undergrowth 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MKS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MKS1 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MKS1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MKS1 human_phenotype_ontology_hp_0000106_human_phenotype_ontology_hp_0001918_human_phenotype_ontology_hp_0008671_human_phenotype_ontology_hp_0012622_mondo_mondo_0005300_medgen_c1561643 Chronic kidney disease Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643 1 1 1.0000 condition_record_support_limited 20 0 1 Chronic_kidney_disease 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MKRN3 mondo_mondo_0008300_medgen_c0032897_omim_176270_orphanet_739 Prader-Willi syndrome MONDO:MONDO:0008300,MedGen:C0032897,OMIM:176270,Orphanet:739 1 1 1.0000 condition_record_support_limited 20 0 0 Prader-Willi_syndrome 11 low_record_burden_interpretation_limited low_record_burden_gene MKRN3 mkrn3_related_disorder MKRN3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MKRN3-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene MKKS syndromic_inherited_retinal_disease Syndromic inherited retinal disease . 1 1 1.0000 condition_record_support_limited 20 0 1 Syndromic_inherited_retinal_disease 124 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MKKS medgen_c0271092 Progressive cone dystrophy (without rod involvement) MedGen:C0271092 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_cone_dystrophy_(without_rod_involvement) 124 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MKKS human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Polycystic kidney disease Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 1 1 1.0000 condition_record_support_limited 20 0 1 Polycystic_kidney_disease 124 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MKKS human_phenotype_ontology_hp_0000003_human_phenotype_ontology_hp_0004715_mondo_mondo_0015988_medgen_c3714581_orphanet_1851 Multicystic kidney dysplasia Human_Phenotype_Ontology:HP:0000003,Human_Phenotype_Ontology:HP:0004715,MONDO:MONDO:0015988,MedGen:C3714581,Orphanet:1851 1 1 1.0000 condition_record_support_limited 20 0 1 Multicystic_kidney_dysplasia 124 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MKKS mondo_mondo_1040050_medgen_cn378636 MKKS-related ciliopathy MONDO:MONDO:1040050,MedGen:CN378636 1 1 1.0000 condition_record_support_limited 20 0 1 MKKS-related_ciliopathy 124 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITF mondo_mondo_0008670_medgen_c1847800_omim_193500_orphanet_894 Waardenburg syndrome type 1 MONDO:MONDO:0008670,MedGen:C1847800,OMIM:193500,Orphanet:894 1 1 1.0000 condition_record_support_limited 20 0 1 Waardenburg_syndrome_type_1 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITF human_phenotype_ontology_hp_0000399_human_phenotype_ontology_hp_0001731_medgen_c4021806 Prelingual sensorineural hearing impairment Human_Phenotype_Ontology:HP:0000399,Human_Phenotype_Ontology:HP:0001731,MedGen:C4021806 1 1 1.0000 condition_record_support_limited 20 0 1 Prelingual_sensorineural_hearing_impairment 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITF human_phenotype_ontology_hp_0002290_medgen_c0221262 Poliosis Human_Phenotype_Ontology:HP:0002290,MedGen:C0221262 1 1 1.0000 condition_record_support_limited 20 0 1 Poliosis 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITF mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 1.0000 condition_record_support_limited 20 0 1 Nonsyndromic_genetic_hearing_loss 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITF human_phenotype_ontology_hp_0002861_human_phenotype_ontology_hp_0002887_human_phenotype_ontology_hp_0006777_human_phenotype_ontology_hp_0007474_mondo_mondo_0005105_mesh_d008545_medgen_c0025202 Melanoma Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202 1 1 1.0000 condition_record_support_limited 20 0 1 Melanoma 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITF human_phenotype_ontology_hp_0001100_mondo_mondo_0007722_medgen_c0423318_omim_142500 Heterochromia iridis Human_Phenotype_Ontology:HP:0001100,MONDO:MONDO:0007722,MedGen:C0423318,OMIM:142500 1 1 1.0000 condition_record_support_limited 20 0 1 Heterochromia_iridis 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITF mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer-predisposing_syndrome 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITF mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_breast_ovarian_cancer_syndrome 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITF mondo_mondo_0018961_medgen_c1512419_orphanet_618 Familial melanoma MONDO:MONDO:0018961,MedGen:C1512419,Orphanet:618 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_melanoma 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITF human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 1.0000 condition_record_support_limited 20 0 1 Ear_malformation 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITF human_phenotype_ontology_hp_0004455_human_phenotype_ontology_hp_0004457_human_phenotype_ontology_hp_0008520_human_phenotype_ontology_hp_0008521_human_phenotype_ontology_hp_0008527_human_phenotype_ontology_hp_0008540_human_phenotype_ontology_hp_0008543_human_phenotype_ontology_hp_0008545_human_phenotype_ontology_hp_0008546_human_phenotype_ontology_hp_0008556_human_phenotype_ontology_hp_0008558_human_phenotype_ontology_hp_0008561_human_phenotype_ontology_hp_0008571_human_phenotype_ontology_hp_0008603_human_phenotype_ontology_hp_0008612_human_phenotype_ontology_hp_0008620_medgen_c1865866 Congenital sensorineural hearing impairment Human_Phenotype_Ontology:HP:0004455,Human_Phenotype_Ontology:HP:0004457,Human_Phenotype_Ontology:HP:0008520,Human_Phenotype_Ontology:HP:0008521,Human_Phenotype_Ontology:HP:0008527,Human_Phenotype_Ontology:HP:0008540,Human_Phenotype_Ontology:HP:0008543,Human_Phenotype_Ontology:HP:0008545,Human_Phenotype_Ontology:HP:0008546,Human_Phenotype_Ontology:HP:0008556,Human_Phenotype_Ontology:HP:0008558,Human_Phenotype_Ontology:HP:0008561,Human_Phenotype_Ontology:HP:0008571,Human_Phenotype_Ontology:HP:0008603,Human_Phenotype_Ontology:HP:0008612,Human_Phenotype_Ontology:HP:0008620,MedGen:C1865866 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_sensorineural_hearing_impairment 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITF mondo_mondo_0019587_medgen_c5779548_omim_ps124900_orphanet_90635 Autosomal dominant nonsyndromic hearing loss MONDO:MONDO:0019587,MedGen:C5779548,OMIM:PS124900,Orphanet:90635 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_nonsyndromic_hearing_loss 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MITD1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 7 low_record_burden_interpretation_limited low_record_burden_gene MIPEP mipep_related_disorder MIPEP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 MIPEP-related_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene MIPEP human_phenotype_ontology_hp_0030682_mondo_mondo_0018901_medgen_c1960469_omim_ps604169_orphanet_54260 Left ventricular noncompaction Human_Phenotype_Ontology:HP:0030682,MONDO:MONDO:0018901,MedGen:C1960469,OMIM:PS604169,Orphanet:54260 1 1 1.0000 condition_record_support_limited 20 0 1 Left_ventricular_noncompaction 18 low_record_burden_interpretation_limited low_record_burden_gene MIPEP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 18 low_record_burden_interpretation_limited low_record_burden_gene MIPEP human_phenotype_ontology_hp_0002449_human_phenotype_ontology_hp_0002523_human_phenotype_ontology_hp_0008947_human_phenotype_ontology_hp_0010572_medgen_c1860834 Floppy infant Human_Phenotype_Ontology:HP:0002449,Human_Phenotype_Ontology:HP:0002523,Human_Phenotype_Ontology:HP:0008947,Human_Phenotype_Ontology:HP:0010572,MedGen:C1860834 1 1 1.0000 condition_record_support_limited 20 0 1 Floppy_infant 18 low_record_burden_interpretation_limited low_record_burden_gene MIPEP human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy 18 low_record_burden_interpretation_limited low_record_burden_gene MIP human_phenotype_ontology_hp_0007968_mondo_mondo_0019631_medgen_c0266568_omim_ps221900_orphanet_91495 Persistent hyperplastic primary vitreous Human_Phenotype_Ontology:HP:0007968,MONDO:MONDO:0019631,MedGen:C0266568,OMIM:PS221900,Orphanet:91495 1 1 1.0000 condition_record_support_limited 20 0 1 Persistent_hyperplastic_primary_vitreous 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MIP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MINPP1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene MINPP1 mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 Pontoneocerebellar hypoplasia MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 1 1 1.0000 condition_record_support_limited 20 0 0 Pontoneocerebellar_hypoplasia 16 low_record_burden_interpretation_limited low_record_burden_gene MINPP1 minpp1_related_disorder MINPP1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 MINPP1-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene MINK1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene MINK1 mondo_mondo_0012157_medgen_c1837091_omim_608931_orphanet_590 Congenital myasthenic syndrome 4C MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orphanet:590 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myasthenic_syndrome_4C 1 low_record_burden_interpretation_limited low_record_burden_gene MINK1 mondo_mondo_0014586_medgen_c4225369_omim_616324_orphanet_590 Congenital myasthenic syndrome 4B MONDO:MONDO:0014586,MedGen:C4225369,OMIM:616324,Orphanet:590 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myasthenic_syndrome_4B 1 low_record_burden_interpretation_limited low_record_burden_gene MINK1 mondo_mondo_0011600_medgen_c4225413_omim_605809_orphanet_590 Congenital myasthenic syndrome 4A MONDO:MONDO:0011600,MedGen:C4225413,OMIM:605809,Orphanet:590 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myasthenic_syndrome_4A 1 low_record_burden_interpretation_limited low_record_burden_gene MINK1 mondo_mondo_0011088_medgen_c2931107_omim_601462 Congenital myasthenic syndrome 1A MONDO:MONDO:0011088,MedGen:C2931107,OMIM:601462 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myasthenic_syndrome_1A 1 low_record_burden_interpretation_limited low_record_burden_gene MINK1 mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 Congenital myasthenic syndrome MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myasthenic_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene MILR1 mondo_mondo_0030326_medgen_c5543632_omim_619425 Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) MONDO:MONDO:0030326,MedGen:C5543632,OMIM:619425 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_dna_depletion_syndrome_16B_(neuroophthalmic_type) 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MILR1 mondo_mondo_0032799_medgen_c5193142_omim_618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) MONDO:MONDO:0032799,MedGen:C5193142,OMIM:618528 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_DNA_depletion_syndrome_16_(hepatic_type) 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MIEF2 mondo_mondo_0033569_medgen_c5436616_omim_619024 Combined oxidative phosphorylation deficiency 49 MONDO:MONDO:0033569,MedGen:C5436616,OMIM:619024 1 1 1.0000 condition_record_support_limited 20 0 0 Combined_oxidative_phosphorylation_deficiency_49 1 low_record_burden_interpretation_limited low_record_burden_gene MID1 mondo_mondo_0009072_mesh_d003616_medgen_c0010964_omim_220200_orphanet_217 Dandy-Walker syndrome MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217 1 1 1.0000 condition_record_support_limited 20 0 1 Dandy-Walker_syndrome 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MICU1 micu1_related_disorder MICU1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MICU1-related_disorder 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MICU1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MICOS13 mondo_mondo_0014017_medgen_c3554373_omim_615032_orphanet_642675 Intellectual developmental disorder with autism and macrocephaly MONDO:MONDO:0014017,MedGen:C3554373,OMIM:615032,Orphanet:642675 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder_with_autism_and_macrocephaly 5 low_record_burden_interpretation_limited low_record_burden_gene MICOS13 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 5 low_record_burden_interpretation_limited low_record_burden_gene MICALL2 mondo_mondo_0008944_medgen_c4551568_omim_213300 Joubert syndrome 1 MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300 1 1 1.0000 condition_record_support_limited 20 0 0 Joubert_syndrome_1 1 low_record_burden_interpretation_limited low_record_burden_gene MIB1 mib1_related_disorder MIB1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MIB1-related_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MIB1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MIA3 odontochondrodysplasia2_with_hearing_loss_and_diabetes Odontochondrodysplasia2 with hearing loss and diabetes . 1 1 1.0000 condition_record_support_limited 20 0 0 Odontochondrodysplasia2_with_hearing_loss_and_diabetes 3 low_record_burden_interpretation_limited low_record_burden_gene MIA3 mondo_mondo_0031010_medgen_c5543275_omim_619269 Odontochondrodysplasia 2 with hearing loss and diabetes MONDO:MONDO:0031010,MedGen:C5543275,OMIM:619269 1 1 1.0000 condition_record_support_limited 20 0 0 Odontochondrodysplasia_2_with_hearing_loss_and_diabetes 3 low_record_burden_interpretation_limited low_record_burden_gene MIA3 odontochondrodysplasia_with_hearing_loss_and_diabetes ODONTOCHONDRODYSPLASIA WITH HEARING LOSS AND DIABETES . 1 1 1.0000 condition_record_support_limited 20 0 0 ODONTOCHONDRODYSPLASIA_WITH_HEARING_LOSS_AND_DIABETES 3 low_record_burden_interpretation_limited low_record_burden_gene MGAT2 mgat2_related_disorder MGAT2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MGAT2-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene MGAT2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 12 low_record_burden_interpretation_limited low_record_burden_gene MGAT2 human_phenotype_ontology_hp_0012345_medgen_c4022946 Abnormal glycosylation Human_Phenotype_Ontology:HP:0012345,MedGen:C4022946 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_glycosylation 12 low_record_burden_interpretation_limited low_record_burden_gene MGAT2 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 12 low_record_burden_interpretation_limited low_record_burden_gene MGA human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 4 low_record_burden_interpretation_limited low_record_burden_gene MFSD8 mondo_mondo_0009549_mesh_d000080362_medgen_c1855465_omim_248200_orphanet_364055_orphanet_827 Severe early-childhood-onset retinal dystrophy MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_early-childhood-onset_retinal_dystrophy 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFSD8 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 0 Seizure 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFSD8 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFSD8 mondo_mondo_0012106_medgen_c1837501_omim_608716_orphanet_2512 Microcephaly 5, primary, autosomal recessive MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly_5,_primary,_autosomal_recessive 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFSD8 mondo_mondo_0100309_medgen_c0004138_orphanet_183518 Hereditary ataxia MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_ataxia 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFSD8 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFSD2A human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 8 low_record_burden_interpretation_limited low_record_burden_gene MFSD2A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 8 low_record_burden_interpretation_limited low_record_burden_gene MFSD2A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 8 low_record_burden_interpretation_limited low_record_burden_gene MFSD2A human_phenotype_ontology_hp_0001987_human_phenotype_ontology_hp_0008308_human_phenotype_ontology_hp_0008334_medgen_c5574662 Hyperammonemia Human_Phenotype_Ontology:HP:0001987,Human_Phenotype_Ontology:HP:0008308,Human_Phenotype_Ontology:HP:0008334,MedGen:C5574662 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperammonemia 8 low_record_burden_interpretation_limited low_record_burden_gene MFSD2A human_phenotype_ontology_hp_0000025_medgen_c4025898 Functional abnormality of male internal genitalia Human_Phenotype_Ontology:HP:0000025,MedGen:C4025898 1 1 1.0000 condition_record_support_limited 20 0 1 Functional_abnormality_of_male_internal_genitalia 8 low_record_burden_interpretation_limited low_record_burden_gene MFSD2A human_phenotype_ontology_hp_0001511_human_phenotype_ontology_hp_0001515_human_phenotype_ontology_hp_0008862_human_phenotype_ontology_hp_0008892_human_phenotype_ontology_hp_0008931_mondo_mondo_0005030_medgen_c0015934 Fetal growth restriction Human_Phenotype_Ontology:HP:0001511,Human_Phenotype_Ontology:HP:0001515,Human_Phenotype_Ontology:HP:0008862,Human_Phenotype_Ontology:HP:0008892,Human_Phenotype_Ontology:HP:0008931,MONDO:MONDO:0005030,MedGen:C0015934 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_growth_restriction 8 low_record_burden_interpretation_limited low_record_burden_gene MFSD2A human_phenotype_ontology_hp_0002175_human_phenotype_ontology_hp_0002373_human_phenotype_ontology_hp_0007102_medgen_c0009952 Febrile seizure (within the age range of 3 months to 6 years) Human_Phenotype_Ontology:HP:0002175,Human_Phenotype_Ontology:HP:0002373,Human_Phenotype_Ontology:HP:0007102,MedGen:C0009952 1 1 1.0000 condition_record_support_limited 20 0 1 Febrile_seizure_(within_the_age_range_of_3_months_to_6_years) 8 low_record_burden_interpretation_limited low_record_burden_gene MFSD2A human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Delayed gross motor development Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_gross_motor_development 8 low_record_burden_interpretation_limited low_record_burden_gene MFSD2A human_phenotype_ontology_hp_0000028_human_phenotype_ontology_hp_0000797_mondo_mondo_0009047_medgen_c0010417_omim_219050 Cryptorchidism Human_Phenotype_Ontology:HP:0000028,Human_Phenotype_Ontology:HP:0000797,MONDO:MONDO:0009047,MedGen:C0010417,OMIM:219050 1 1 1.0000 condition_record_support_limited 20 0 1 Cryptorchidism 8 low_record_burden_interpretation_limited low_record_burden_gene MFSD11 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene MFSD11 mondo_mondo_0004653_medgen_c1292772_orphanet_98824 Atypical chronic myeloid leukemia, BCR-ABL1 negative MONDO:MONDO:0004653,MedGen:C1292772,Orphanet:98824 1 1 1.0000 condition_record_support_limited 20 0 1 Atypical_chronic_myeloid_leukemia,_BCR-ABL1_negative 3 low_record_burden_interpretation_limited low_record_burden_gene MFSD11 human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Acute myeloid leukemia Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_myeloid_leukemia 3 low_record_burden_interpretation_limited low_record_burden_gene MFSD11 mondo_mondo_0020526_medgen_c5925108_orphanet_99887 Acute megakaryoblastic leukemia in down syndrome MONDO:MONDO:0020526,MedGen:C5925108,Orphanet:99887 1 1 1.0000 condition_record_support_limited 20 0 0 Acute_megakaryoblastic_leukemia_in_down_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene MFRP mondo_mondo_0005514_medgen_c4274282_omim_ps600165_orphanet_35612 Nanophthalmia MONDO:MONDO:0005514,MedGen:C4274282,OMIM:PS600165,Orphanet:35612 1 1 1.0000 condition_record_support_limited 20 0 1 Nanophthalmia 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFRP mfrp_related_disorder MFRP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MFRP-related_disorder 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 mondo_mondo_0019549_medgen_c4707897_orphanet_90118 Severe early-onset axonal neuropathy due to MFN2 deficiency MONDO:MONDO:0019549,MedGen:C4707897,Orphanet:90118 1 1 1.0000 condition_record_support_limited 20 0 0 Severe_early-onset_axonal_neuropathy_due_to_MFN2_deficiency 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 semidominant_mfn2_related_disorders Semidominant MFN2-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Semidominant_MFN2-related_disorders 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 human_phenotype_ontology_hp_0004552_medgen_c3806301 Scarring alopecia of scalp Human_Phenotype_Ontology:HP:0004552,MedGen:C3806301 1 1 1.0000 condition_record_support_limited 20 0 1 Scarring_alopecia_of_scalp 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 human_phenotype_ontology_hp_0100699_medgen_c0008767 Scarring Human_Phenotype_Ontology:HP:0100699,MedGen:C0008767 1 1 1.0000 condition_record_support_limited 20 0 1 Scarring 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Peripheral neuropathy Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 1.0000 condition_record_support_limited 20 0 1 Peripheral_neuropathy 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 human_phenotype_ontology_hp_0003477_human_phenotype_ontology_hp_0006814_human_phenotype_ontology_hp_0006842_human_phenotype_ontology_hp_0007169_human_phenotype_ontology_hp_0008304_mondo_mondo_0004183_medgen_c1263857 Peripheral axonal neuropathy Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857 1 1 1.0000 condition_record_support_limited 20 0 1 Peripheral_axonal_neuropathy 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 human_phenotype_ontology_hp_0008382_human_phenotype_ontology_hp_0008397_human_phenotype_ontology_hp_0008404_human_phenotype_ontology_hp_0008408_medgen_c0221260 Nail dystrophy Human_Phenotype_Ontology:HP:0008382,Human_Phenotype_Ontology:HP:0008397,Human_Phenotype_Ontology:HP:0008404,Human_Phenotype_Ontology:HP:0008408,MedGen:C0221260 1 1 1.0000 condition_record_support_limited 20 0 1 Nail_dystrophy 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 mondo_mondo_0016418_medgen_c5554234_orphanet_227510 Multiple system atrophy, cerebellar type MONDO:MONDO:0016418,MedGen:C5554234,Orphanet:227510 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_system_atrophy,_cerebellar_type 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 mondo_mondo_0007908_medgen_c0023804_omim_151800_orphanet_2398 Multiple symmetric lipomatosis MONDO:MONDO:0007908,MedGen:C0023804,OMIM:151800,Orphanet:2398 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_symmetric_lipomatosis 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 human_phenotype_ontology_hp_0000953_human_phenotype_ontology_hp_0007527_mondo_mondo_0019289_medgen_c0162834_orphanet_79375 Hyperpigmentation of the skin Human_Phenotype_Ontology:HP:0000953,Human_Phenotype_Ontology:HP:0007527,MONDO:MONDO:0019289,MedGen:C0162834,Orphanet:79375 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperpigmentation_of_the_skin 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 hereditary_neuropathy_or_pain_disorder Hereditary neuropathy or pain disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_neuropathy_or_pain_disorder 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 mondo_mondo_0024257_medgen_c0270763_orphanet_98505 Hereditary motor neuron disease MONDO:MONDO:0024257,MedGen:C0270763,Orphanet:98505 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_motor_neuron_disease 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 human_phenotype_ontology_hp_0002177_human_phenotype_ontology_hp_0003457_human_phenotype_ontology_hp_0003751_human_phenotype_ontology_hp_0003753_human_phenotype_ontology_hp_0100286_medgen_c0476403 EMG abnormality Human_Phenotype_Ontology:HP:0002177,Human_Phenotype_Ontology:HP:0003457,Human_Phenotype_Ontology:HP:0003751,Human_Phenotype_Ontology:HP:0003753,Human_Phenotype_Ontology:HP:0100286,MedGen:C0476403 1 1 1.0000 condition_record_support_limited 20 0 1 EMG_abnormality 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 human_phenotype_ontology_hp_0002460_human_phenotype_ontology_hp_0002598_human_phenotype_ontology_hp_0002935_human_phenotype_ontology_hp_0003497_human_phenotype_ontology_hp_0006940_human_phenotype_ontology_hp_0009008_medgen_c0427065 Distal muscle weakness Human_Phenotype_Ontology:HP:0002460,Human_Phenotype_Ontology:HP:0002598,Human_Phenotype_Ontology:HP:0002935,Human_Phenotype_Ontology:HP:0003497,Human_Phenotype_Ontology:HP:0006940,Human_Phenotype_Ontology:HP:0009008,MedGen:C0427065 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_muscle_weakness 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 human_phenotype_ontology_hp_0001823_human_phenotype_ontology_hp_0001826_human_phenotype_ontology_hp_0004325_medgen_c5574742 Decreased body weight Human_Phenotype_Ontology:HP:0001823,Human_Phenotype_Ontology:HP:0001826,Human_Phenotype_Ontology:HP:0004325,MedGen:C5574742 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_body_weight 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 mondo_mondo_0018995_medgen_c4082197_orphanet_64749 Charcot-Marie-Tooth disease type 4 MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease_type_4 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 mondo_mondo_0011674_medgen_c1847902_omim_606482_orphanet_100044_orphanet_228179 Charcot-Marie-Tooth disease dominant intermediate B MONDO:MONDO:0011674,MedGen:C1847902,OMIM:606482,Orphanet:100044,Orphanet:228179 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease_dominant_intermediate_B 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_palsy 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 mondo_mondo_0021944_medgen_c1852271_omim_ps609129 Auditory neuropathy MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 1 1 1.0000 condition_record_support_limited 20 0 0 Auditory_neuropathy 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 human_phenotype_ontology_hp_0002293_human_phenotype_ontology_hp_0200115_medgen_c0574769 Alopecia of scalp Human_Phenotype_Ontology:HP:0002293,Human_Phenotype_Ontology:HP:0200115,MedGen:C0574769 1 1 1.0000 condition_record_support_limited 20 0 1 Alopecia_of_scalp 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 human_phenotype_ontology_hp_0000164_human_phenotype_ontology_hp_0001567_human_phenotype_ontology_hp_0006296_human_phenotype_ontology_hp_0006348_medgen_c0262444 Abnormality of the dentition Human_Phenotype_Ontology:HP:0000164,Human_Phenotype_Ontology:HP:0001567,Human_Phenotype_Ontology:HP:0006296,Human_Phenotype_Ontology:HP:0006348,MedGen:C0262444 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_dentition 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 human_phenotype_ontology_hp_0000682_human_phenotype_ontology_hp_0006322_medgen_c4021800 Abnormal dental enamel morphology Human_Phenotype_Ontology:HP:0000682,Human_Phenotype_Ontology:HP:0006322,MedGen:C4021800 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_dental_enamel_morphology 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFN2 human_phenotype_ontology_hp_0007467_human_phenotype_ontology_hp_0007496_human_phenotype_ontology_hp_0008066_human_phenotype_ontology_hp_0200038_medgen_c2132198 Abnormal blistering of the skin Human_Phenotype_Ontology:HP:0007467,Human_Phenotype_Ontology:HP:0007496,Human_Phenotype_Ontology:HP:0008066,Human_Phenotype_Ontology:HP:0200038,MedGen:C2132198 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_blistering_of_the_skin 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MFF mondo_mondo_0004675_medgen_c0162666 Mitochondrial encephalomyopathy MONDO:MONDO:0004675,MedGen:C0162666 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_encephalomyopathy 14 low_record_burden_interpretation_limited low_record_burden_gene MFF human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 14 low_record_burden_interpretation_limited low_record_burden_gene MFAP5 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene MFAP5 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 3 low_record_burden_interpretation_limited low_record_burden_gene MFAP5 mondo_mondo_0014514_medgen_c4015368_omim_616166 Aortic aneurysm, familial thoracic 9 MONDO:MONDO:0014514,MedGen:C4015368,OMIM:616166 1 1 1.0000 condition_record_support_limited 20 0 0 Aortic_aneurysm,_familial_thoracic_9 3 low_record_burden_interpretation_limited low_record_burden_gene METTL5 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene METTL4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene METAP1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene MET mondo_mondo_0011806_medgen_c4085248_omim_607278_orphanet_488265 Osteofibrous dysplasia MONDO:MONDO:0011806,MedGen:C4085248,OMIM:607278,Orphanet:488265 1 1 1.0000 condition_record_support_limited 20 0 1 Osteofibrous_dysplasia 13 low_record_burden_interpretation_limited low_record_burden_gene MET nonsyndromic_hearing_loss_and_deafness_autosomal_recessive Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive MedGen:CN043650 1 1 1.0000 condition_record_support_limited 20 0 1 Nonsyndromic_Hearing_Loss_and_Deafness,_Autosomal_Recessive 13 low_record_burden_interpretation_limited low_record_burden_gene MET met_related_disorder MET-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MET-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene MET mondo_mondo_0003789_medgen_c0879257_orphanet_47044 Hereditary papillary renal cell carcinoma MONDO:MONDO:0003789,MedGen:C0879257,Orphanet:47044 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_papillary_renal_cell_carcinoma 13 low_record_burden_interpretation_limited low_record_burden_gene MET human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Hepatocellular carcinoma Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 1 1 1.0000 condition_record_support_limited 20 0 1 Hepatocellular_carcinoma 13 low_record_burden_interpretation_limited low_record_burden_gene MET mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 13 low_record_burden_interpretation_limited low_record_burden_gene MET mondo_mondo_0007157_medgen_c0220662_omim_108120_orphanet_1146 Arthrogryposis, distal, type 1A MONDO:MONDO:0007157,MedGen:C0220662,OMIM:108120,Orphanet:1146 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis,_distal,_type_1A 13 low_record_burden_interpretation_limited low_record_burden_gene MEST mondo_mondo_0957430_medgen_c0036346_orphanet_641496 Childhood-onset schizophrenia MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 1.0000 condition_record_support_limited 20 0 0 Childhood-onset_schizophrenia 1 low_record_burden_interpretation_limited low_record_burden_gene MESP2 mondo_mondo_0020692_medgen_cn032975_omim_277300_orphanet_2311 Spondylocostal dysostosis 1, autosomal recessive MONDO:MONDO:0020692,MedGen:CN032975,OMIM:277300,Orphanet:2311 1 1 1.0000 condition_record_support_limited 20 0 1 Spondylocostal_dysostosis_1,_autosomal_recessive 77 compact_adjacent_exon_block_opportunity local_compact_architecture MERTK human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MERTK mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEN1 human_phenotype_ontology_hp_0000854_medgen_c0151468 Thyroid adenoma Human_Phenotype_Ontology:HP:0000854,MedGen:C0151468 1 1 1.0000 condition_record_support_limited 20 0 1 Thyroid_adenoma 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEN1 medgen_c2675664 Parathyroid adenoma, somatic MedGen:C2675664 1 1 1.0000 condition_record_support_limited 20 0 1 Parathyroid_adenoma,_somatic 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEN1 mondo_mondo_0005048_medgen_c5848150_orphanet_97279 Pancreatic insulin-producing neuroendocrine tumor MONDO:MONDO:0005048,MedGen:C5848150,Orphanet:97279 1 1 1.0000 condition_record_support_limited 20 0 1 Pancreatic_insulin-producing_neuroendocrine_tumor 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEN1 mondo_mondo_0017169_medgen_c0027662_omim_ps131100_orphanet_276161 Multiple endocrine neoplasia MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100,Orphanet:276161 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_endocrine_neoplasia 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEN1 human_phenotype_ontology_hp_0002865_mondo_mondo_0015277_mesh_c536914_medgen_c0238462_orphanet_1332 Medullary thyroid carcinoma Human_Phenotype_Ontology:HP:0002865,MONDO:MONDO:0015277,MeSH:C536914,MedGen:C0238462,Orphanet:1332 1 1 1.0000 condition_record_support_limited 20 0 1 Medullary_thyroid_carcinoma 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEN1 human_phenotype_ontology_hp_0030445_mondo_mondo_0006041_medgen_c0280089 Lung carcinoid tumor Human_Phenotype_Ontology:HP:0030445,MONDO:MONDO:0006041,MedGen:C0280089 1 1 1.0000 condition_record_support_limited 20 0 1 Lung_carcinoid_tumor 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEN1 medgen_c4017330 Lipoma, somatic MedGen:C4017330 1 1 1.0000 condition_record_support_limited 20 0 1 Lipoma,_somatic 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEN1 human_phenotype_ontology_hp_0000822_human_phenotype_ontology_hp_0004949_human_phenotype_ontology_hp_0005126_mondo_mondo_0005044_medgen_c0020538 Hypertensive disorder Human_Phenotype_Ontology:HP:0000822,Human_Phenotype_Ontology:HP:0004949,Human_Phenotype_Ontology:HP:0005126,MONDO:MONDO:0005044,MedGen:C0020538 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertensive_disorder 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEN1 mondo_mondo_0007767_medgen_c1840402_omim_145000_orphanet_99879 Hyperparathyroidism 1 MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000,Orphanet:99879 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperparathyroidism_1 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEN1 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_breast_ovarian_cancer_syndrome 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEN1 human_phenotype_ontology_hp_0100723_mondo_mondo_0011719_mesh_d046152_medgen_c0238198_omim_606764_orphanet_44890 Gastrointestinal stromal tumor Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890 1 1 1.0000 condition_record_support_limited 20 0 1 Gastrointestinal_stromal_tumor 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEN1 human_phenotype_ontology_hp_0002888_mondo_mondo_0016698_mesh_d004806_medgen_c0014474_orphanet_251636 Ependymoma Human_Phenotype_Ontology:HP:0002888,MONDO:MONDO:0016698,MeSH:D004806,MedGen:C0014474,Orphanet:251636 1 1 1.0000 condition_record_support_limited 20 0 0 Ependymoma 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEN1 human_phenotype_ontology_hp_0000819_human_phenotype_ontology_hp_0004908_human_phenotype_ontology_hp_0008217_human_phenotype_ontology_hp_0008234_human_phenotype_ontology_hp_0008260_mondo_mondo_0005015_medgen_c0011849 Diabetes mellitus Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849 1 1 1.0000 condition_record_support_limited 20 0 1 Diabetes_mellitus 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEN1 human_phenotype_ontology_hp_0002028_mondo_mondo_0044751_medgen_c0401151 Chronic diarrhea Human_Phenotype_Ontology:HP:0002028,MONDO:MONDO:0044751,MedGen:C0401151 1 1 1.0000 condition_record_support_limited 20 0 1 Chronic_diarrhea 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEN1 human_phenotype_ontology_hp_0004724_medgen_c1855801 Calcium nephrolithiasis Human_Phenotype_Ontology:HP:0004724,MedGen:C1855801 1 1 1.0000 condition_record_support_limited 20 0 1 Calcium_nephrolithiasis 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEN1 human_phenotype_ontology_hp_0008196_human_phenotype_ontology_hp_0008256_mondo_mondo_0003924_medgen_c0206667 Adrenocortical adenoma Human_Phenotype_Ontology:HP:0008196,Human_Phenotype_Ontology:HP:0008256,MONDO:MONDO:0003924,MedGen:C0206667 1 1 1.0000 condition_record_support_limited 20 0 0 Adrenocortical_adenoma 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEN1 human_phenotype_ontology_hp_0004363_human_phenotype_ontology_hp_0040077_medgen_c4022450 Abnormal circulating calcium concentration Human_Phenotype_Ontology:HP:0004363,Human_Phenotype_Ontology:HP:0040077,MedGen:C4022450 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_circulating_calcium_concentration 665 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control MEIS2 mondo_mondo_0000508_medgen_c5680525_orphanet_183763 Syndromic intellectual disability MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 1.0000 condition_record_support_limited 20 0 0 Syndromic_intellectual_disability 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEIS2 mondo_mondo_0016044_medgen_c0158646_orphanet_199306 Cleft lip/palate MONDO:MONDO:0016044,MedGen:C0158646,Orphanet:199306 1 1 1.0000 condition_record_support_limited 20 0 0 Cleft_lip/palate 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEIOB human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Azoospermia Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 1.0000 condition_record_support_limited 20 0 0 Azoospermia 10 low_record_burden_interpretation_limited low_record_burden_gene MEI1 mei1_related_disorder MEI1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MEI1-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene MEGF8 human_phenotype_ontology_hp_0006034_human_phenotype_ontology_hp_0006046_human_phenotype_ontology_hp_0006123_human_phenotype_ontology_hp_0009605_human_phenotype_ontology_hp_0010442_mondo_mondo_0021003_medgen_c0152427_omim_603596 Polydactyly Human_Phenotype_Ontology:HP:0006034,Human_Phenotype_Ontology:HP:0006046,Human_Phenotype_Ontology:HP:0006123,Human_Phenotype_Ontology:HP:0009605,Human_Phenotype_Ontology:HP:0010442,MONDO:MONDO:0021003,MedGen:C0152427,OMIM:603596 1 1 1.0000 condition_record_support_limited 20 0 1 Polydactyly 43 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MEGF8 megf8_related_disorder MEGF8-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 MEGF8-related_disorder 43 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MEGF8 human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 1.0000 condition_record_support_limited 20 0 1 Craniosynostosis_syndrome 43 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MEGF10 megf10_related_disorder MEGF10-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 MEGF10-related_disorder 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEFV human_phenotype_ontology_hp_0001954_human_phenotype_ontology_hp_0004903_human_phenotype_ontology_hp_0005962_human_phenotype_ontology_hp_0005966_human_phenotype_ontology_hp_0005980_medgen_c3714772 Recurrent fever Human_Phenotype_Ontology:HP:0001954,Human_Phenotype_Ontology:HP:0004903,Human_Phenotype_Ontology:HP:0005962,Human_Phenotype_Ontology:HP:0005966,Human_Phenotype_Ontology:HP:0005980,MedGen:C3714772 1 1 1.0000 condition_record_support_limited 20 0 1 Recurrent_fever 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEFV mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 Neuronal ceroid lipofuscinosis MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 1 1 1.0000 condition_record_support_limited 20 0 1 Neuronal_ceroid_lipofuscinosis 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEFV mondo_mondo_0007191_medgen_c0004943_omim_109650_orphanet_117 Behcet disease MONDO:MONDO:0007191,MedGen:C0004943,OMIM:109650,Orphanet:117 1 1 1.0000 condition_record_support_limited 20 0 0 Behcet_disease 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEF2C human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEF2C mef2c_haploinsufficiency_syndrome MEF2C Haploinsufficiency Syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 MEF2C_Haploinsufficiency_Syndrome 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEF2C human_phenotype_ontology_hp_0002145_mondo_mondo_0017276_medgen_c0338451_omim_600274_orphanet_282 Frontotemporal dementia Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282 1 1 1.0000 condition_record_support_limited 20 0 0 Frontotemporal_dementia 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEF2C human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 0 Epileptic_encephalopathy 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEF2C autosomal_dominant_epilepsy Autosomal dominant epilepsy . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_epilepsy 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEF2C mondo_mondo_0016456_medgen_c4304529_orphanet_228384 5q14.3 microdeletion syndrome MONDO:MONDO:0016456,MedGen:C4304529,Orphanet:228384 1 1 1.0000 condition_record_support_limited 20 0 1 5q14.3_microdeletion_syndrome 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED29 pontocerebellar_hypoplasia_with_cataract pontocerebellar hypoplasia with cataract . 1 1 1.0000 condition_record_support_limited 20 0 0 pontocerebellar_hypoplasia_with_cataract 1 low_record_burden_interpretation_limited low_record_burden_gene MED25 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene MED25 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 7 low_record_burden_interpretation_limited low_record_burden_gene MED25 mondo_mondo_0018993_medgen_c0270914_orphanet_64746 Charcot-Marie-Tooth disease type 2 MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease_type_2 7 low_record_burden_interpretation_limited low_record_burden_gene MED23 med23_related_disorder MED23-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MED23-related_disorder 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED23 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED17 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MED13L human_phenotype_ontology_hp_0000076_human_phenotype_ontology_hp_0005998_human_phenotype_ontology_hp_0006002_human_phenotype_ontology_hp_0008667_mondo_mondo_0006007_medgen_c0042580 Vesicoureteral reflux Human_Phenotype_Ontology:HP:0000076,Human_Phenotype_Ontology:HP:0005998,Human_Phenotype_Ontology:HP:0006002,Human_Phenotype_Ontology:HP:0008667,MONDO:MONDO:0006007,MedGen:C0042580 1 1 1.0000 condition_record_support_limited 20 0 1 Vesicoureteral_reflux 284 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED13L mondo_mondo_0016073_medgen_c5679782_omim_ps309800_orphanet_202948 Syndromic microphthalmia MONDO:MONDO:0016073,MedGen:C5679782,OMIM:PS309800,Orphanet:202948 1 1 1.0000 condition_record_support_limited 20 0 0 Syndromic_microphthalmia 284 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED13L human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 1.0000 condition_record_support_limited 20 0 1 Strabismus 284 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED13L human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Motor delay Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 1.0000 condition_record_support_limited 20 0 1 Motor_delay 284 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED13L marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 1 1 1.0000 condition_record_support_limited 20 0 1 Marfanoid_habitus_and_intellectual_disability 284 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED13L kabuki_like_syndrome Kabuki-like syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 Kabuki-like_syndrome 284 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED13L human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 284 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED13L chromatinopathy Chromatinopathy . 1 1 1.0000 condition_record_support_limited 20 0 0 Chromatinopathy 284 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED13L mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 284 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED13 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED13 med13_related_neurodevelopmental_disorder MED13-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 MED13-related_neurodevelopmental_disorder 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED13 med13_associated_disorder MED13-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 MED13-associated_disorder 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED13 cdk8_kinase_module_associated_disorder CDK8-kinase module-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CDK8-kinase_module-associated_disorder 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12L p2ry12_related_disorder P2RY12-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 P2RY12-related_disorder 35 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12L med12l_associated_neurodevelopmental_disorder MED12L-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 MED12L-associated_neurodevelopmental_disorder 35 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12L human_phenotype_ontology_hp_0004866_medgen_c4025282 Impaired ADP-induced platelet aggregation Human_Phenotype_Ontology:HP:0004866,MedGen:C4025282 1 1 1.0000 condition_record_support_limited 20 0 1 Impaired_ADP-induced_platelet_aggregation 35 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12L human_phenotype_ontology_hp_0011869_medgen_c0855740 Abnormal platelet function Human_Phenotype_Ontology:HP:0011869,MedGen:C0855740 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_platelet_function 35 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12 x_linked_med12_related_disorders X-linked MED12-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 X-linked_MED12-related_disorders 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12 human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Ventriculomegaly Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 1 1 1.0000 condition_record_support_limited 20 0 1 Ventriculomegaly 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12 med12_related_neurodevelopmental_delay MED12-related neurodevelopmental delay . 1 1 1.0000 condition_record_support_limited 20 0 0 MED12-related_neurodevelopmental_delay 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12 human_phenotype_ontology_hp_0001550_human_phenotype_ontology_hp_0002023_mondo_mondo_0001046_medgen_c0003466_omim_207500_omim_301800_orphanet_557 Imperforate anus Human_Phenotype_Ontology:HP:0001550,Human_Phenotype_Ontology:HP:0002023,MONDO:MONDO:0001046,MedGen:C0003466,OMIM:207500,OMIM:301800,Orphanet:557 1 1 1.0000 condition_record_support_limited 20 0 1 Imperforate_anus 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12 human_phenotype_ontology_hp_0002474_human_phenotype_ontology_hp_0007192_medgen_c0454641 Expressive language delay Human_Phenotype_Ontology:HP:0002474,Human_Phenotype_Ontology:HP:0007192,MedGen:C0454641 1 1 1.0000 condition_record_support_limited 20 0 1 Expressive_language_delay 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12 human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Corpus callosum, agenesis of Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 1.0000 condition_record_support_limited 20 0 1 Corpus_callosum,_agenesis_of 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12 human_phenotype_ontology_hp_0001173_human_phenotype_ontology_hp_0001240_human_phenotype_ontology_hp_0004073_human_phenotype_ontology_hp_0009651_human_phenotype_ontology_hp_0011304_medgen_c0426891 Broad thumb Human_Phenotype_Ontology:HP:0001173,Human_Phenotype_Ontology:HP:0001240,Human_Phenotype_Ontology:HP:0004073,Human_Phenotype_Ontology:HP:0009651,Human_Phenotype_Ontology:HP:0011304,MedGen:C0426891 1 1 1.0000 condition_record_support_limited 20 0 1 Broad_thumb 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED12 human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Absent speech Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 1.0000 condition_record_support_limited 20 0 1 Absent_speech 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MED11 mondo_mondo_0957225_medgen_c5830433_omim_620327 Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities MONDO:MONDO:0957225,MedGen:C5830433,OMIM:620327 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodegeneration_with_developmental_delay,_early_respiratory_failure,_myoclonic_seizures,_and_brain_abnormalities 1 low_record_burden_interpretation_limited low_record_burden_gene MECR mecr_related_disorder MECR-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MECR-related_disorder 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0010307_medgen_c0038450 Stridor Human_Phenotype_Ontology:HP:0010307,MedGen:C0038450 1 1 1.0000 condition_record_support_limited 20 0 1 Stridor 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 mondo_mondo_0002265_medgen_c0038273 Stereotypic movement disorder MONDO:MONDO:0002265,MedGen:C0038273 1 1 1.0000 condition_record_support_limited 20 0 1 Stereotypic_movement_disorder 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0000373_human_phenotype_ontology_hp_0000402_medgen_c0395837 Stenosis of the external auditory canal Human_Phenotype_Ontology:HP:0000373,Human_Phenotype_Ontology:HP:0000402,MedGen:C0395837 1 1 1.0000 condition_record_support_limited 20 0 1 Stenosis_of_the_external_auditory_canal 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 smith_magenis_syndrome_like Smith-Magenis Syndrome-like . 1 1 1.0000 condition_record_support_limited 20 0 1 Smith-Magenis_Syndrome-like 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0011704_mondo_mondo_0001823_medgen_c0037052 Sick sinus syndrome Human_Phenotype_Ontology:HP:0011704,MONDO:MONDO:0001823,MedGen:C0037052 1 1 1.0000 condition_record_support_limited 20 0 1 Sick_sinus_syndrome 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0011344_medgen_c1837397 Severe global developmental delay Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_global_developmental_delay 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0002344_medgen_c1854838 Progressive neurologic deterioration Human_Phenotype_Ontology:HP:0002344,MedGen:C1854838 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_neurologic_deterioration 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0008844_human_phenotype_ontology_hp_0008865_human_phenotype_ontology_hp_0008868_human_phenotype_ontology_hp_0008897_human_phenotype_ontology_hp_0008901_human_phenotype_ontology_hp_0008918_medgen_c1859778 Postnatal growth retardation Human_Phenotype_Ontology:HP:0008844,Human_Phenotype_Ontology:HP:0008865,Human_Phenotype_Ontology:HP:0008868,Human_Phenotype_Ontology:HP:0008897,Human_Phenotype_Ontology:HP:0008901,Human_Phenotype_Ontology:HP:0008918,MedGen:C1859778 1 1 1.0000 condition_record_support_limited 20 0 1 Postnatal_growth_retardation 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 mondo_mondo_0019181_medgen_c3501611_omim_ps309530_orphanet_777 Non-syndromic X-linked intellectual disability MONDO:MONDO:0019181,MedGen:C3501611,OMIM:PS309530,Orphanet:777 1 1 1.0000 condition_record_support_limited 20 0 1 Non-syndromic_X-linked_intellectual_disability 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0007373_medgen_c4024896 Motor neuron atrophy Human_Phenotype_Ontology:HP:0007373,MedGen:C4024896 1 1 1.0000 condition_record_support_limited 20 0 1 Motor_neuron_atrophy 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Motor delay Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 1.0000 condition_record_support_limited 20 0 1 Motor_delay 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Micrognathia Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 1.0000 condition_record_support_limited 20 0 1 Micrognathia 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0001768_human_phenotype_ontology_hp_0001840_human_phenotype_ontology_hp_0010217_medgen_c4082169 Metatarsus adductus Human_Phenotype_Ontology:HP:0001768,Human_Phenotype_Ontology:HP:0001840,Human_Phenotype_Ontology:HP:0010217,MedGen:C4082169 1 1 1.0000 condition_record_support_limited 20 0 1 Metatarsus_adductus 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0002505_human_phenotype_ontology_hp_0006957_medgen_c1836843 Loss of ambulation Human_Phenotype_Ontology:HP:0002505,Human_Phenotype_Ontology:HP:0006957,MedGen:C1836843 1 1 1.0000 condition_record_support_limited 20 0 1 Loss_of_ambulation 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0012195_medgen_c0425492 Irregular respiration Human_Phenotype_Ontology:HP:0012195,MedGen:C0425492 1 1 1.0000 condition_record_support_limited 20 0 1 Irregular_respiration 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 mondo_mondo_0005384_mesh_d004828_medgen_c0014547 Focal epilepsy MONDO:MONDO:0005384,MeSH:D004828,MedGen:C0014547 1 1 1.0000 condition_record_support_limited 20 0 1 Focal_epilepsy 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0002219_medgen_c1851400_omim_134000 Facial hypertrichosis Human_Phenotype_Ontology:HP:0002219,MedGen:C1851400,OMIM:134000 1 1 1.0000 condition_record_support_limited 20 0 1 Facial_hypertrichosis 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 0 Epileptic_encephalopathy 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 1.0000 condition_record_support_limited 20 0 1 Dystonic_disorder 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0000494_human_phenotype_ontology_hp_0007714_human_phenotype_ontology_hp_0007908_medgen_c0423110 Downslanted palpebral fissures Human_Phenotype_Ontology:HP:0000494,Human_Phenotype_Ontology:HP:0007714,Human_Phenotype_Ontology:HP:0007908,MedGen:C0423110 1 1 1.0000 condition_record_support_limited 20 0 1 Downslanted_palpebral_fissures 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_disorder 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0001601_mondo_mondo_0007878_medgen_c0264303_omim_150280_orphanet_2373 Congenital laryngomalacia Human_Phenotype_Ontology:HP:0001601,MONDO:MONDO:0007878,MedGen:C0264303,OMIM:150280,Orphanet:2373 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_laryngomalacia 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0011398_medgen_c1842364 Central hypotonia Human_Phenotype_Ontology:HP:0011398,MedGen:C1842364 1 1 1.0000 condition_record_support_limited 20 0 1 Central_hypotonia 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0002871_medgen_c3887548 Central apnea Human_Phenotype_Ontology:HP:0002871,MedGen:C3887548 1 1 1.0000 condition_record_support_limited 20 0 1 Central_apnea 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0001283_human_phenotype_ontology_hp_0003441_human_phenotype_ontology_hp_0003709_medgen_c4082299 Bulbar palsy Human_Phenotype_Ontology:HP:0001283,Human_Phenotype_Ontology:HP:0003441,Human_Phenotype_Ontology:HP:0003709,MedGen:C4082299 1 1 1.0000 condition_record_support_limited 20 0 1 Bulbar_palsy 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0003763_mondo_mondo_0002443_medgen_c0006325 Bruxism Human_Phenotype_Ontology:HP:0003763,MONDO:MONDO:0002443,MedGen:C0006325 1 1 1.0000 condition_record_support_limited 20 0 1 Bruxism 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Atypical behavior Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 1 1 1.0000 condition_record_support_limited 20 0 1 Atypical_behavior 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Attention deficit hyperactivity disorder Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 1.0000 condition_record_support_limited 20 0 1 Attention_deficit_hyperactivity_disorder 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Absent speech Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 1.0000 condition_record_support_limited 20 0 1 Absent_speech 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0012535_medgen_c4021083 Abnormal synaptic transmission Human_Phenotype_Ontology:HP:0012535,MedGen:C4021083 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_synaptic_transmission 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECP2 human_phenotype_ontology_hp_0003706_human_phenotype_ontology_hp_0004303_human_phenotype_ontology_hp_0011806_medgen_c4021663 Abnormal muscle fiber morphology Human_Phenotype_Ontology:HP:0003706,Human_Phenotype_Ontology:HP:0004303,Human_Phenotype_Ontology:HP:0011806,MedGen:C4021663 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_muscle_fiber_morphology 783 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECOM human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 1.0000 condition_record_support_limited 20 0 0 Thrombocytopenia 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECOM mecom_related_disorder MECOM-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MECOM-related_disorder 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECOM mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_cancer-predisposing_syndrome 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MECOM mondo_mondo_0005453_medgen_c0152021 Congenital heart disease MONDO:MONDO:0005453,MedGen:C0152021 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_heart_disease 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MEA1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene MEA1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene MEA1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene MEA1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 1 low_record_burden_interpretation_limited low_record_burden_gene MEA1 mondo_mondo_0014602_medgen_c5779996_omim_616355_orphanet_457279 Hogue-Janssens syndrome 1 MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279 1 1 1.0000 condition_record_support_limited 20 0 1 Hogue-Janssens_syndrome_1 1 low_record_burden_interpretation_limited low_record_burden_gene MEA1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene ME2 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 1 low_record_burden_interpretation_limited low_record_burden_gene MDM2 mondo_mondo_0032868_medgen_c5231460_omim_618681 Lessel-kubisch syndrome MONDO:MONDO:0032868,MedGen:C5231460,OMIM:618681 1 1 1.0000 condition_record_support_limited 20 0 1 Lessel-kubisch_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene MDM2 medgen_c3280690_omim_614401 Accelerated tumor formation, susceptibility to MedGen:C3280690,OMIM:614401 1 1 1.0000 condition_record_support_limited 20 0 1 Accelerated_tumor_formation,_susceptibility_to 1 low_record_burden_interpretation_limited low_record_burden_gene MDH1 mondo_mondo_0030072_medgen_c5394553_omim_618959 Developmental and epileptic encephalopathy, 88 MONDO:MONDO:0030072,MedGen:C5394553,OMIM:618959 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_88 1 low_record_burden_interpretation_limited low_record_burden_gene MDGA2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene MDFIC condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene MDFIC mdfic_related_disorder MDFIC-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MDFIC-related_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene MCUR1 human_phenotype_ontology_hp_0001716_mondo_mondo_0008685_medgen_c0043202_omim_194200 Wolff-Parkinson-White pattern Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200 1 1 1.0000 condition_record_support_limited 20 0 1 Wolff-Parkinson-White_pattern 1 low_record_burden_interpretation_limited low_record_burden_gene MCUR1 human_phenotype_ontology_hp_0003756_mondo_mondo_0020120_medgen_c1533847_orphanet_98472 Skeletal myopathy Human_Phenotype_Ontology:HP:0003756,MONDO:MONDO:0020120,MedGen:C1533847,Orphanet:98472 1 1 1.0000 condition_record_support_limited 20 0 1 Skeletal_myopathy 1 low_record_burden_interpretation_limited low_record_burden_gene MCUR1 human_phenotype_ontology_hp_0001761_medgen_c0728829 Pes cavus Human_Phenotype_Ontology:HP:0001761,MedGen:C0728829 1 1 1.0000 condition_record_support_limited 20 0 1 Pes_cavus 1 low_record_burden_interpretation_limited low_record_burden_gene MCUR1 human_phenotype_ontology_hp_0001299_human_phenotype_ontology_hp_0003202_human_phenotype_ontology_hp_0003545_human_phenotype_ontology_hp_0003671_human_phenotype_ontology_hp_0003702_human_phenotype_ontology_hp_0003746_human_phenotype_ontology_hp_0006995_human_phenotype_ontology_hp_0007171_human_phenotype_ontology_hp_0007356_human_phenotype_ontology_hp_0009010_human_phenotype_ontology_hp_0009048_human_phenotype_ontology_hp_0100868_mondo_mondo_0004323_medgen_c0541794 Muscular atrophy Human_Phenotype_Ontology:HP:0001299,Human_Phenotype_Ontology:HP:0003202,Human_Phenotype_Ontology:HP:0003545,Human_Phenotype_Ontology:HP:0003671,Human_Phenotype_Ontology:HP:0003702,Human_Phenotype_Ontology:HP:0003746,Human_Phenotype_Ontology:HP:0006995,Human_Phenotype_Ontology:HP:0007171,Human_Phenotype_Ontology:HP:0007356,Human_Phenotype_Ontology:HP:0009010,Human_Phenotype_Ontology:HP:0009048,Human_Phenotype_Ontology:HP:0100868,MONDO:MONDO:0004323,MedGen:C0541794 1 1 1.0000 condition_record_support_limited 20 0 1 Muscular_atrophy 1 low_record_burden_interpretation_limited low_record_burden_gene MCUR1 human_phenotype_ontology_hp_0030234_medgen_c4022565 Highly elevated creatine kinase Human_Phenotype_Ontology:HP:0030234,MedGen:C4022565 1 1 1.0000 condition_record_support_limited 20 0 1 Highly_elevated_creatine_kinase 1 low_record_burden_interpretation_limited low_record_burden_gene MCPH1 mcph1_related_disorder MCPH1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 MCPH1-related_disorder 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCPH1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCPH1 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_morphology 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCOLN1 mondo_mondo_0019248_medgen_c0026697_orphanet_79212 Mucolipidosis MONDO:MONDO:0019248,MedGen:C0026697,Orphanet:79212 1 1 1.0000 condition_record_support_limited 20 0 1 Mucolipidosis 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCOLN1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCMDC2 human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Azoospermia Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 1.0000 condition_record_support_limited 20 0 0 Azoospermia 3 low_record_burden_interpretation_limited low_record_burden_gene MCM9 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene MCM9 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 1.0000 condition_record_support_limited 20 0 1 Non-obstructive_azoospermia 10 low_record_burden_interpretation_limited low_record_burden_gene MCM8 mondo_mondo_0012539_medgen_c1853153_omim_610688_orphanet_475 Joubert syndrome 6 MONDO:MONDO:0012539,MedGen:C1853153,OMIM:610688,Orphanet:475 1 1 1.0000 condition_record_support_limited 20 0 0 Joubert_syndrome_6 14 low_record_burden_interpretation_limited low_record_burden_gene MCM8 human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Azoospermia Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 1.0000 condition_record_support_limited 20 0 1 Azoospermia 14 low_record_burden_interpretation_limited low_record_burden_gene MCM5 mondo_mondo_0033046_medgen_c4479655_omim_617564 Meier-Gorlin syndrome 8 MONDO:MONDO:0033046,MedGen:C4479655,OMIM:617564 1 1 1.0000 condition_record_support_limited 20 0 0 Meier-Gorlin_syndrome_8 1 low_record_burden_interpretation_limited low_record_burden_gene MCM4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene MCIDAS mondo_mondo_0012085_medgen_c1837618_omim_608644_orphanet_244 Primary ciliary dyskinesia 3 MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_ciliary_dyskinesia_3 17 low_record_burden_interpretation_limited low_record_burden_gene MCFD2 human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombocytopenia 16 low_record_burden_interpretation_limited low_record_burden_gene MCFD2 human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 1 1 1.0000 condition_record_support_limited 20 0 0 Severe_combined_immunodeficiency_disease 16 low_record_burden_interpretation_limited low_record_burden_gene MCFD2 human_phenotype_ontology_hp_0008330_medgen_c4024701 Reduced von Willebrand factor activity Human_Phenotype_Ontology:HP:0008330,MedGen:C4024701 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_von_Willebrand_factor_activity 16 low_record_burden_interpretation_limited low_record_burden_gene MCFD2 human_phenotype_ontology_hp_0012147_medgen_c4023022 Reduced quantity of Von Willebrand factor Human_Phenotype_Ontology:HP:0012147,MedGen:C4023022 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_quantity_of_Von_Willebrand_factor 16 low_record_burden_interpretation_limited low_record_burden_gene MCFD2 mondo_mondo_0009465_medgen_c0220744_orphanet_2300 Multiple gastrointestinal atresias MONDO:MONDO:0009465,MedGen:C0220744,Orphanet:2300 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_gastrointestinal_atresias 16 low_record_burden_interpretation_limited low_record_burden_gene MCFD2 mcfd2_related_disorder MCFD2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MCFD2-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene MCFD2 mondo_mondo_0030831_medgen_c5234880_omim_ps243150 Gastrointestinal defect and immunodeficiency syndrome MONDO:MONDO:0030831,MedGen:C5234880,OMIM:PS243150 1 1 1.0000 condition_record_support_limited 20 0 0 Gastrointestinal_defect_and_immunodeficiency_syndrome 16 low_record_burden_interpretation_limited low_record_burden_gene MCFD2 human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_bleeding 16 low_record_burden_interpretation_limited low_record_burden_gene MCEE condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene MCEE mcee_related_disorder MCEE-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MCEE-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene MCEE mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 9 low_record_burden_interpretation_limited low_record_burden_gene MCCC2 mondo_mondo_0010056_medgen_c1838230_omim_271150_orphanet_83420 Spinal muscular atrophy, type IV MONDO:MONDO:0010056,MedGen:C1838230,OMIM:271150,Orphanet:83420 1 1 1.0000 condition_record_support_limited 20 0 0 Spinal_muscular_atrophy,_type_IV 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MCCC2 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 197 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MC4R adipositas adipositas . 1 1 1.0000 condition_record_support_limited 20 0 0 adipositas 59 single_exon_hotspot_opportunity local_compact_architecture MC4R human_phenotype_ontology_hp_0100753_mondo_mondo_0005090_mesh_d012559_medgen_c0036341_omim_181500 Schizophrenia Human_Phenotype_Ontology:HP:0100753,MONDO:MONDO:0005090,MeSH:D012559,MedGen:C0036341,OMIM:181500 1 1 1.0000 condition_record_support_limited 20 0 1 Schizophrenia 59 single_exon_hotspot_opportunity local_compact_architecture MC4R mondo_mondo_0015967_medgen_c3888631_orphanet_183625 Monogenic diabetes MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_diabetes 59 single_exon_hotspot_opportunity local_compact_architecture MC4R mondo_mondo_0019182_medgen_c4054476_omim_601665_orphanet_77828 Inherited obesity MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828 1 1 1.0000 condition_record_support_limited 20 0 0 Inherited_obesity 59 single_exon_hotspot_opportunity local_compact_architecture MC2R mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MC1R mondo_mondo_0008746_medgen_c0268495_omim_203200_orphanet_79432 Tyrosinase-positive oculocutaneous albinism MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432 1 1 1.0000 condition_record_support_limited 20 0 1 Tyrosinase-positive_oculocutaneous_albinism 2 low_record_burden_interpretation_limited low_record_burden_gene MC1R skin_and_hair_hypopigmentation Skin and Hair Hypopigmentation . 1 1 1.0000 condition_record_support_limited 20 0 1 Skin_and_Hair_Hypopigmentation 2 low_record_burden_interpretation_limited low_record_burden_gene MC1R medgen_c1849452_omim_266300 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 MedGen:C1849452,OMIM:266300 1 1 1.0000 condition_record_support_limited 20 0 0 SKIN/HAIR/EYE_PIGMENTATION,_VARIATION_IN,_2 2 low_record_burden_interpretation_limited low_record_burden_gene MBTPS2 mondo_mondo_0010486_medgen_c3806745_omim_300918_orphanet_659 Olmsted syndrome, X-linked MONDO:MONDO:0010486,MedGen:C3806745,OMIM:300918,Orphanet:659 1 1 1.0000 condition_record_support_limited 20 0 0 Olmsted_syndrome,_X-linked 17 low_record_burden_interpretation_limited low_record_burden_gene MBTPS2 mbtps2_related_disorder MBTPS2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 MBTPS2-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene MBTPS2 mondo_mondo_0010637_medgen_c3887525_omim_308800_orphanet_2340 Keratosis follicularis spinulosa decalvans, X-linked MONDO:MONDO:0010637,MedGen:C3887525,OMIM:308800,Orphanet:2340 1 1 1.0000 condition_record_support_limited 20 0 1 Keratosis_follicularis_spinulosa_decalvans,_X-linked 17 low_record_burden_interpretation_limited low_record_burden_gene MBTPS2 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 17 low_record_burden_interpretation_limited low_record_burden_gene MBOAT7 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MBOAT7 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MBLAC1 mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 Congenital long QT syndrome MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_long_QT_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene MBD5 mbd5_associated_neurodevelopmental_disorder MBD5 associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MBD5_associated_neurodevelopmental_disorder 119 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MB mondo_mondo_0859530_medgen_c5830362_omim_620286 Myopathy, sarcoplasmic body MONDO:MONDO:0859530,MedGen:C5830362,OMIM:620286 1 1 1.0000 condition_record_support_limited 20 0 1 Myopathy,_sarcoplasmic_body 1 low_record_burden_interpretation_limited low_record_burden_gene MB mondo_mondo_0024331_medgen_c0009402 Colorectal carcinoma MONDO:MONDO:0024331,MedGen:C0009402 1 1 1.0000 condition_record_support_limited 20 0 1 Colorectal_carcinoma 1 low_record_burden_interpretation_limited low_record_burden_gene MAZ mondo_mondo_0011178_medgen_c1865926_omim_602066_orphanet_31709 Infantile convulsions and choreoathetosis MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066,Orphanet:31709 1 1 1.0000 condition_record_support_limited 20 0 0 Infantile_convulsions_and_choreoathetosis 2 low_record_burden_interpretation_limited low_record_burden_gene MAZ human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Congenital ocular coloboma Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_ocular_coloboma 2 low_record_burden_interpretation_limited low_record_burden_gene MATR3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene MATR3 mondo_mondo_0011632_medgen_c3807521_omim_606070_orphanet_600_orphanet_803 Amyotrophic lateral sclerosis type 21 MONDO:MONDO:0011632,MedGen:C3807521,OMIM:606070,Orphanet:600,Orphanet:803 1 1 1.0000 condition_record_support_limited 20 0 1 Amyotrophic_lateral_sclerosis_type_21 1 low_record_burden_interpretation_limited low_record_burden_gene MATN4 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 1 low_record_burden_interpretation_limited low_record_burden_gene MATN4 human_phenotype_ontology_hp_0000520_human_phenotype_ontology_hp_0000536_human_phenotype_ontology_hp_0000644_human_phenotype_ontology_hp_0000645_human_phenotype_ontology_hp_0007711_human_phenotype_ontology_hp_0007870_mondo_mondo_0004770_medgen_c0015300 Proptosis Human_Phenotype_Ontology:HP:0000520,Human_Phenotype_Ontology:HP:0000536,Human_Phenotype_Ontology:HP:0000644,Human_Phenotype_Ontology:HP:0000645,Human_Phenotype_Ontology:HP:0007711,Human_Phenotype_Ontology:HP:0007870,MONDO:MONDO:0004770,MedGen:C0015300 1 1 1.0000 condition_record_support_limited 20 0 1 Proptosis 1 low_record_burden_interpretation_limited low_record_burden_gene MATN4 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 1 low_record_burden_interpretation_limited low_record_burden_gene MATN4 lumbosacral_myelomeningocele Lumbosacral myelomeningocele MedGen:CN228305 1 1 1.0000 condition_record_support_limited 20 0 1 Lumbosacral_myelomeningocele 1 low_record_burden_interpretation_limited low_record_burden_gene MATN4 human_phenotype_ontology_hp_0001360_human_phenotype_ontology_hp_0009807_mondo_mondo_0016296_medgen_c0079541_omim_ps236100_orphanet_2162 Holoprosencephaly sequence Human_Phenotype_Ontology:HP:0001360,Human_Phenotype_Ontology:HP:0009807,MONDO:MONDO:0016296,MedGen:C0079541,OMIM:PS236100,Orphanet:2162 1 1 1.0000 condition_record_support_limited 20 0 1 Holoprosencephaly_sequence 1 low_record_burden_interpretation_limited low_record_burden_gene MATN4 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene MATN4 human_phenotype_ontology_hp_0000873_mondo_mondo_0004782_medgen_c0011848 Diabetes insipidus Human_Phenotype_Ontology:HP:0000873,MONDO:MONDO:0004782,MedGen:C0011848 1 1 1.0000 condition_record_support_limited 20 0 1 Diabetes_insipidus 1 low_record_burden_interpretation_limited low_record_burden_gene MATN3 mondo_mondo_0008322_medgen_c0410538_omim_177170_orphanet_750 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome MONDO:MONDO:0008322,MedGen:C0410538,OMIM:177170,Orphanet:750 1 1 1.0000 condition_record_support_limited 20 0 0 Pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome 12 low_record_burden_interpretation_limited low_record_burden_gene MATN3 mondo_mondo_0007704_medgen_c3887526_omim_140600 Osteoarthritis susceptibility 2 MONDO:MONDO:0007704,MedGen:C3887526,OMIM:140600 1 1 1.0000 condition_record_support_limited 20 0 0 Osteoarthritis_susceptibility_2 12 low_record_burden_interpretation_limited low_record_burden_gene MATN3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 12 low_record_burden_interpretation_limited low_record_burden_gene MAT2A condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene MAT2A mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 1 low_record_burden_interpretation_limited low_record_burden_gene MAST4 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 3 low_record_burden_interpretation_limited low_record_burden_gene MAST3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene MAST1 mast1_related_disorder MAST1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MAST1-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene MASP2 tardbp_related_disorder TARDBP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 TARDBP-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene MASP2 mondo_mondo_0013423_medgen_c3151085_omim_613791_orphanet_331187 Immunodeficiency due to MASP-2 deficiency MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791,Orphanet:331187 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_due_to_MASP-2_deficiency 4 low_record_burden_interpretation_limited low_record_burden_gene MASP2 medgen_c3150169 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED MedGen:C3150169 1 1 1.0000 condition_record_support_limited 20 0 1 FRONTOTEMPORAL_LOBAR_DEGENERATION_WITH_TDP43_INCLUSIONS,_TARDBP-RELATED 4 low_record_burden_interpretation_limited low_record_burden_gene MASP2 mondo_mondo_0012790_medgen_c2677565_omim_612069_orphanet_275872_orphanet_803 Amyotrophic lateral sclerosis type 10 MONDO:MONDO:0012790,MedGen:C2677565,OMIM:612069,Orphanet:275872,Orphanet:803 1 1 1.0000 condition_record_support_limited 20 0 1 Amyotrophic_lateral_sclerosis_type_10 4 low_record_burden_interpretation_limited low_record_burden_gene MASP1 masp1_related_disorder MASP1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 MASP1-related_disorder 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MASP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MARVELD2 monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MARVELD2 human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 1.0000 condition_record_support_limited 20 0 1 Ear_malformation 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MARVELD2 medgen_c0011053 Deafness MedGen:C0011053 1 1 1.0000 condition_record_support_limited 20 0 1 Deafness 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MARS2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene MARS1 human_phenotype_ontology_hp_0006517_mondo_mondo_0001437_medgen_c5400698 Pulmonary alveolar proteinosis Human_Phenotype_Ontology:HP:0006517,MONDO:MONDO:0001437,MedGen:C5400698 1 1 1.0000 condition_record_support_limited 20 0 1 Pulmonary_alveolar_proteinosis 7 low_record_burden_interpretation_limited low_record_burden_gene MARS1 mondo_mondo_0014566_medgen_c4084821_omim_616280_orphanet_397735 Charcot-Marie-Tooth disease axonal type 2U MONDO:MONDO:0014566,MedGen:C4084821,OMIM:616280,Orphanet:397735 1 1 1.0000 condition_record_support_limited 20 0 0 Charcot-Marie-Tooth_disease_axonal_type_2U 7 low_record_burden_interpretation_limited low_record_burden_gene MARS1 mondo_mondo_0018422_medgen_c4749431_omim_620323_orphanet_401835 Autosomal recessive spastic paraplegia type 70 MONDO:MONDO:0018422,MedGen:C4749431,OMIM:620323,Orphanet:401835 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_spastic_paraplegia_type_70 7 low_record_burden_interpretation_limited low_record_burden_gene MARK3 mondo_mondo_0032655_medgen_c4748978_omim_618283 Visual impairment and progressive phthisis bulbi MONDO:MONDO:0032655,MedGen:C4748978,OMIM:618283 1 1 1.0000 condition_record_support_limited 20 0 0 Visual_impairment_and_progressive_phthisis_bulbi 1 low_record_burden_interpretation_limited low_record_burden_gene MARK2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MARK2 mark2_associated_neurodevelopmental_disorder MARK2-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MARK2-associated_neurodevelopmental_disorder 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MARK2 mark2_associated_disorder MARK2-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 MARK2-associated_disorder 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MARK2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MARCKS condition_not_provided condition not provided MedGen:CN169374 1 1 1.0000 condition_record_support_limited 20 1 0 not_specified 1 low_record_burden_interpretation_limited low_record_burden_gene MARCHF6 mondo_mondo_0013322_medgen_c3150860_omim_613608_orphanet_86814 Epilepsy, familial adult myoclonic, 3 MONDO:MONDO:0013322,MedGen:C3150860,OMIM:613608,Orphanet:86814 1 1 1.0000 condition_record_support_limited 20 0 0 Epilepsy,_familial_adult_myoclonic,_3 1 low_record_burden_interpretation_limited low_record_burden_gene MAPT human_phenotype_ontology_hp_0001268_human_phenotype_ontology_hp_0002303_human_phenotype_ontology_hp_0006822_human_phenotype_ontology_hp_0007155_human_phenotype_ontology_hp_0007253_human_phenotype_ontology_hp_0007264_human_phenotype_ontology_hp_0007298_medgen_c0234985 Mental deterioration Human_Phenotype_Ontology:HP:0001268,Human_Phenotype_Ontology:HP:0002303,Human_Phenotype_Ontology:HP:0006822,Human_Phenotype_Ontology:HP:0007155,Human_Phenotype_Ontology:HP:0007253,Human_Phenotype_Ontology:HP:0007264,Human_Phenotype_Ontology:HP:0007298,MedGen:C0234985 1 1 1.0000 condition_record_support_limited 20 0 1 Mental_deterioration 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAPT human_phenotype_ontology_hp_0000747_human_phenotype_ontology_hp_0002081_human_phenotype_ontology_hp_0002354_medgen_c0233794 Memory impairment Human_Phenotype_Ontology:HP:0000747,Human_Phenotype_Ontology:HP:0002081,Human_Phenotype_Ontology:HP:0002354,MedGen:C0233794 1 1 1.0000 condition_record_support_limited 20 0 1 Memory_impairment 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAPT human_phenotype_ontology_hp_0000726_human_phenotype_ontology_hp_0002274_human_phenotype_ontology_hp_0007122_human_phenotype_ontology_hp_0007150_human_phenotype_ontology_hp_0007283_mondo_mondo_0001627_medgen_c0497327 Dementia Human_Phenotype_Ontology:HP:0000726,Human_Phenotype_Ontology:HP:0002274,Human_Phenotype_Ontology:HP:0007122,Human_Phenotype_Ontology:HP:0007150,Human_Phenotype_Ontology:HP:0007283,MONDO:MONDO:0001627,MedGen:C0497327 1 1 1.0000 condition_record_support_limited 20 0 1 Dementia 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAPT human_phenotype_ontology_hp_0002511_human_phenotype_ontology_hp_0006878_human_phenotype_ontology_hp_0007213_mondo_mondo_0004975_mesh_d000544_medgen_c0002395_orphanet_1020 Alzheimer disease Human_Phenotype_Ontology:HP:0002511,Human_Phenotype_Ontology:HP:0006878,Human_Phenotype_Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020 1 1 1.0000 condition_record_support_limited 20 0 0 Alzheimer_disease 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAPT adult_onset_neurodegenerative_disorder Adult onset neurodegenerative disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 Adult_onset_neurodegenerative_disorder 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAPRE2 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene MAPKBP1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene MAPKAPK3 mondo_mondo_0014920_medgen_c4310713_omim_617111_orphanet_466718 Patterned macular dystrophy 3 MONDO:MONDO:0014920,MedGen:C4310713,OMIM:617111,Orphanet:466718 1 1 1.0000 condition_record_support_limited 20 0 0 Patterned_macular_dystrophy_3 1 low_record_burden_interpretation_limited low_record_burden_gene MAPK8IP3 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene MAPK8IP3 mapk8ip3_related_disorder MAPK8IP3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MAPK8IP3-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene MAPK3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene MAPK1 human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 13 low_record_burden_interpretation_limited low_record_burden_gene MAPK1 mapk1_related_disorder MAPK1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 MAPK1-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene MAPK1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 13 low_record_burden_interpretation_limited low_record_burden_gene MAP4K4 human_phenotype_ontology_hp_0000110_human_phenotype_ontology_hp_0000116_human_phenotype_ontology_hp_0004721_mondo_mondo_0019638_medgen_c3536714_orphanet_93108 Renal dysplasia Human_Phenotype_Ontology:HP:0000110,Human_Phenotype_Ontology:HP:0000116,Human_Phenotype_Ontology:HP:0004721,MONDO:MONDO:0019638,MedGen:C3536714,Orphanet:93108 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_dysplasia 14 low_record_burden_interpretation_limited low_record_burden_gene MAP4K4 map4k4_related_neurodevelopmental_delay MAP4K4-related neurodevelopmental delay . 1 1 1.0000 condition_record_support_limited 20 0 0 MAP4K4-related_neurodevelopmental_delay 14 low_record_burden_interpretation_limited low_record_burden_gene MAP4K4 human_phenotype_ontology_hp_0001550_human_phenotype_ontology_hp_0002023_mondo_mondo_0001046_medgen_c0003466_omim_207500_omim_301800_orphanet_557 Imperforate anus Human_Phenotype_Ontology:HP:0001550,Human_Phenotype_Ontology:HP:0002023,MONDO:MONDO:0001046,MedGen:C0003466,OMIM:207500,OMIM:301800,Orphanet:557 1 1 1.0000 condition_record_support_limited 20 0 1 Imperforate_anus 14 low_record_burden_interpretation_limited low_record_burden_gene MAP4K4 human_phenotype_ontology_hp_0011142_mondo_mondo_0011060_medgen_c1832423_omim_601371_orphanet_91492 Early-onset non-syndromic cataract Human_Phenotype_Ontology:HP:0011142,MONDO:MONDO:0011060,MedGen:C1832423,OMIM:601371,Orphanet:91492 1 1 1.0000 condition_record_support_limited 20 0 0 Early-onset_non-syndromic_cataract 14 low_record_burden_interpretation_limited low_record_burden_gene MAP4K4 human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Cerebral arteriovenous malformation Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_arteriovenous_malformation 14 low_record_burden_interpretation_limited low_record_burden_gene MAP4K2 mondo_mondo_0007540_mesh_d018761_medgen_c0025267_omim_131100_orphanet_652 Multiple endocrine neoplasia, type 1 MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:652 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_endocrine_neoplasia,_type_1 1 low_record_burden_interpretation_limited low_record_burden_gene MAP4K2 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer-predisposing_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene MAP3K6 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene MAP3K3 mondo_mondo_0018734_medgen_c0334540_orphanet_464318 Verrucous hemangioma MONDO:MONDO:0018734,MedGen:C0334540,Orphanet:464318 1 1 1.0000 condition_record_support_limited 20 0 1 Verrucous_hemangioma 1 low_record_burden_interpretation_limited low_record_burden_gene MAP3K3 cerebral_cavernous_malformations_5_somatic CEREBRAL CAVERNOUS MALFORMATIONS 5, SOMATIC . 1 1 1.0000 condition_record_support_limited 20 0 1 CEREBRAL_CAVERNOUS_MALFORMATIONS_5,_SOMATIC 1 low_record_burden_interpretation_limited low_record_burden_gene MAP3K20 mondo_mondo_0008464_medgen_c2931019_omim_183600_orphanet_2440 Split hand-foot malformation 1 MONDO:MONDO:0008464,MedGen:C2931019,OMIM:183600,Orphanet:2440 1 1 1.0000 condition_record_support_limited 20 0 1 Split_hand-foot_malformation_1 13 low_record_burden_interpretation_limited low_record_burden_gene MAP3K20 map3k20_related_disorder MAP3K20-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 MAP3K20-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene MAP3K20 mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 Centronuclear myopathy MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 1 1 1.0000 condition_record_support_limited 20 0 1 Centronuclear_myopathy 13 low_record_burden_interpretation_limited low_record_burden_gene MAP3K14 mondo_mondo_0018642_medgen_c5680065_orphanet_447731 NIK deficiency MONDO:MONDO:0018642,MedGen:C5680065,Orphanet:447731 1 1 1.0000 condition_record_support_limited 20 0 0 NIK_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene MAP3K14 mondo_mondo_0957535_medgen_c5830633_omim_620449 Immunodeficiency 112 MONDO:MONDO:0957535,MedGen:C5830633,OMIM:620449 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_112 2 low_record_burden_interpretation_limited low_record_burden_gene MAP3K11 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 1 low_record_burden_interpretation_limited low_record_burden_gene MAP3K1 map3k1_related_disorder MAP3K1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MAP3K1-related_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene MAP3K1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 18 low_record_burden_interpretation_limited low_record_burden_gene MAP3K1 differences_in_sex_development Differences in sex development . 1 1 1.0000 condition_record_support_limited 20 0 0 Differences_in_sex_development 18 low_record_burden_interpretation_limited low_record_burden_gene MAP2K2 smith_magenis_syndrome_like Smith-Magenis Syndrome-like . 1 1 1.0000 condition_record_support_limited 20 0 0 Smith-Magenis_Syndrome-like 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP2K2 mondo_mondo_0020297_medgen_c5681679_orphanet_98733 Noonan syndrome and Noonan-related syndrome MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733 1 1 1.0000 condition_record_support_limited 20 0 1 Noonan_syndrome_and_Noonan-related_syndrome 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP2K2 mondo_mondo_0018702_medgen_c4552543_orphanet_457077 Castleman-Kojima disease MONDO:MONDO:0018702,MedGen:C4552543,Orphanet:457077 1 1 1.0000 condition_record_support_limited 20 0 1 Castleman-Kojima_disease 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP2K2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP2K2 mondo_mondo_0007265_medgen_cn029449_omim_115150_orphanet_1340 Cardiofaciocutaneous syndrome 1 MONDO:MONDO:0007265,MedGen:CN029449,OMIM:115150,Orphanet:1340 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiofaciocutaneous_syndrome_1 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP2K1 medgen_c5574870_orphanet_2346 Parkes Weber syndrome MedGen:C5574870,Orphanet:2346 1 1 1.0000 condition_record_support_limited 20 0 1 Parkes_Weber_syndrome 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP2K1 human_phenotype_ontology_hp_0030358_mondo_mondo_0005233_mesh_d002289_medgen_c0007131 Non-small cell lung carcinoma Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131 1 1 1.0000 condition_record_support_limited 20 0 1 Non-small_cell_lung_carcinoma 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP2K1 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP2K1 map2k1_related_rasopathy_like_syndrome MAP2K1-related rasopathy-like syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 MAP2K1-related_rasopathy-like_syndrome 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP2K1 map2k1_related_rasopathy MAP2K1-related RASopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 MAP2K1-related_RASopathy 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP2K1 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP2K1 human_phenotype_ontology_hp_0100026_mesh_d001165_medgen_c0003857 Arteriovenous malformation Human_Phenotype_Ontology:HP:0100026,MeSH:D001165,MedGen:C0003857 1 1 1.0000 condition_record_support_limited 20 0 0 Arteriovenous_malformation 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAP1B mondo_mondo_0001561_medgen_c0034194 Pyloric stenosis MONDO:MONDO:0001561,MedGen:C0034194 1 1 1.0000 condition_record_support_limited 20 0 1 Pyloric_stenosis 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MAP1B mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MAP1B human_phenotype_ontology_hp_0011330_medgen_c1860819 Metopic synostosis Human_Phenotype_Ontology:HP:0011330,MedGen:C1860819 1 1 1.0000 condition_record_support_limited 20 0 1 Metopic_synostosis 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MAP1B human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MAP1B human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MAP1B mondo_mondo_0013031_medgen_c2752071_omim_612881_orphanet_2149 Chromosome 5Q14.3 deletion syndrome, distal MONDO:MONDO:0013031,MedGen:C2752071,OMIM:612881,Orphanet:2149 1 1 1.0000 condition_record_support_limited 20 0 0 Chromosome_5Q14.3_deletion_syndrome,_distal 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MAP1B human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Attention deficit hyperactivity disorder Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 1.0000 condition_record_support_limited 20 0 1 Attention_deficit_hyperactivity_disorder 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MAP1B human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture MAP1A mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene MAOA human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 17 low_record_burden_interpretation_limited low_record_burden_gene MANF mondo_mondo_0007301_medgen_c0265342_omim_117650_orphanet_1393 Cerebro-costo-mandibular syndrome MONDO:MONDO:0007301,MedGen:C0265342,OMIM:117650,Orphanet:1393 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebro-costo-mandibular_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene MANEAL maneal_associated_disorder MANEAL-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 MANEAL-associated_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene MANBA human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 109 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAN2B1 mondo_mondo_0009612_medgen_c1855114_omim_251000_orphanet_27 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:MONDO:0009612,MedGen:C1855114,OMIM:251000,Orphanet:27 1 1 1.0000 condition_record_support_limited 20 0 0 Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency 358 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAN2B1 human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 1.0000 condition_record_support_limited 20 0 1 Craniosynostosis_syndrome 358 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAN1B1 man1b1_related_disorder MAN1B1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MAN1B1-related_disorder 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAN1B1 mondo_mondo_0018349_medgen_c4518783_orphanet_397941 MAN1B1-congenital disorder of glycosylation MONDO:MONDO:0018349,MedGen:C4518783,Orphanet:397941 1 1 1.0000 condition_record_support_limited 20 0 1 MAN1B1-congenital_disorder_of_glycosylation 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAMLD1 mondo_mondo_0017968_medgen_c2697358_orphanet_325345 46,XY ovotesticular disorder of sex development MONDO:MONDO:0017968,MedGen:C2697358,Orphanet:325345 1 1 1.0000 condition_record_support_limited 20 0 1 46,XY_ovotesticular_disorder_of_sex_development 7 low_record_burden_interpretation_limited low_record_burden_gene MALT1 human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 1 1 1.0000 condition_record_support_limited 20 0 0 Severe_combined_immunodeficiency_disease 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAK16 mondo_mondo_0014238_medgen_c3809853_omim_615541_orphanet_391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome MONDO:MONDO:0014238,MedGen:C3809853,OMIM:615541,Orphanet:391307 1 1 1.0000 condition_record_support_limited 20 0 0 Severe_intellectual_disability-short_stature-behavioral_abnormalities-facial_dysmorphism_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene MAK mondo_mondo_0700229_medgen_cn375904 MAK-related retinopathy MONDO:MONDO:0700229,MedGen:CN375904 1 1 1.0000 condition_record_support_limited 20 0 1 MAK-related_retinopathy 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAK mondo_mondo_0957048_medgen_c5681367_orphanet_519302 Isolated macular dystrophy MONDO:MONDO:0957048,MedGen:C5681367,Orphanet:519302 1 1 1.0000 condition_record_support_limited 20 0 1 Isolated_macular_dystrophy 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAGI2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene MAGEL2 human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Ventriculomegaly Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 1 1 1.0000 condition_record_support_limited 20 0 1 Ventriculomegaly 95 single_exon_hotspot_opportunity local_compact_architecture MAGEL2 mondo_mondo_0018354_medgen_c3809877_orphanet_398073 Prader-Willi-like syndrome MONDO:MONDO:0018354,MedGen:C3809877,Orphanet:398073 1 1 1.0000 condition_record_support_limited 20 0 1 Prader-Willi-like_syndrome 95 single_exon_hotspot_opportunity local_compact_architecture MAGEL2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 95 single_exon_hotspot_opportunity local_compact_architecture MAGEL2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 95 single_exon_hotspot_opportunity local_compact_architecture MAGEL2 human_phenotype_ontology_hp_0002828_medgen_c0158118 Multiple joint contractures Human_Phenotype_Ontology:HP:0002828,MedGen:C0158118 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_joint_contractures 95 single_exon_hotspot_opportunity local_compact_architecture MAGEL2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 95 single_exon_hotspot_opportunity local_compact_architecture MAGEL2 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 95 single_exon_hotspot_opportunity local_compact_architecture MAGEL2 human_phenotype_ontology_hp_0000062_human_phenotype_ontology_hp_0008685_human_phenotype_ontology_hp_0008693_medgen_c0266362 Ambiguous genitalia Human_Phenotype_Ontology:HP:0000062,Human_Phenotype_Ontology:HP:0008685,Human_Phenotype_Ontology:HP:0008693,MedGen:C0266362 1 1 1.0000 condition_record_support_limited 20 0 1 Ambiguous_genitalia 95 single_exon_hotspot_opportunity local_compact_architecture MAGED2 renal_tubulopathies Renal tubulopathies . 1 1 1.0000 condition_record_support_limited 20 0 0 Renal_tubulopathies 17 low_record_burden_interpretation_limited low_record_burden_gene MAGED2 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 17 low_record_burden_interpretation_limited low_record_burden_gene MAGED2 human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Hypoplasia of the corpus callosum Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplasia_of_the_corpus_callosum 17 low_record_burden_interpretation_limited low_record_burden_gene MAGED2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 17 low_record_burden_interpretation_limited low_record_burden_gene MAGED2 mondo_mondo_0009072_mesh_d003616_medgen_c0010964_omim_220200_orphanet_217 Dandy-Walker syndrome MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217 1 1 1.0000 condition_record_support_limited 20 0 1 Dandy-Walker_syndrome 17 low_record_burden_interpretation_limited low_record_burden_gene MAGED2 human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Cerebellar atrophy Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_atrophy 17 low_record_burden_interpretation_limited low_record_burden_gene MAGED2 human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Attention deficit hyperactivity disorder Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 1.0000 condition_record_support_limited 20 0 1 Attention_deficit_hyperactivity_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene MAG condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene MAG mondo_mondo_0007335_mesh_c566121_medgen_c1861537_omim_119530 Orofacial cleft 1 MONDO:MONDO:0007335,MeSH:C566121,MedGen:C1861537,OMIM:119530 1 1 1.0000 condition_record_support_limited 20 0 0 Orofacial_cleft_1 16 low_record_burden_interpretation_limited low_record_burden_gene MAFB mondo_mondo_0007335_mesh_c566121_medgen_c1861537_omim_119530 Orofacial cleft 1 MONDO:MONDO:0007335,MeSH:C566121,MedGen:C1861537,OMIM:119530 1 1 1.0000 condition_record_support_limited 20 0 0 Orofacial_cleft_1 24 single_exon_hotspot_opportunity local_compact_architecture MAFB human_phenotype_ontology_hp_0001495_medgen_c1833734 Carpal osteolysis Human_Phenotype_Ontology:HP:0001495,MedGen:C1833734 1 1 1.0000 condition_record_support_limited 20 0 1 Carpal_osteolysis 24 single_exon_hotspot_opportunity local_compact_architecture MADD mondo_mondo_0018332_medgen_c5680029_orphanet_394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type MONDO:MONDO:0018332,MedGen:C5680029,Orphanet:394529 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_acyl-CoA_dehydrogenase_deficiency,_severe_neonatal_type 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MADD autosomal_recessive_madd_related_disorders Autosomal recessive MADD-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_MADD-related_disorders 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture MAD2L2 condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene MAD2L2 mondo_mondo_0014985_medgen_c4310652_omim_617243 Fanconi anemia complementation group V MONDO:MONDO:0014985,MedGen:C4310652,OMIM:617243 1 1 1.0000 condition_record_support_limited 20 0 1 Fanconi_anemia_complementation_group_V 1 low_record_burden_interpretation_limited low_record_burden_gene MAD1L1 lymphoma_diffuse_large_b_cell_somatic LYMPHOMA, DIFFUSE LARGE B-CELL, SOMATIC . 1 1 1.0000 condition_record_support_limited 20 0 0 LYMPHOMA,_DIFFUSE_LARGE_B-CELL,_SOMATIC 6 low_record_burden_interpretation_limited low_record_burden_gene MACROH2A1 macroh2a1_related_neurodevelopmental_disorder MACROH2A1-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 MACROH2A1-related_neurodevelopmental_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene MACROD2 mondo_mondo_0014107_medgen_c3808986_omim_615271_orphanet_478 Hypogonadotropic hypogonadism 21 with or without anosmia MONDO:MONDO:0014107,MedGen:C3808986,OMIM:615271,Orphanet:478 1 1 1.0000 condition_record_support_limited 20 0 0 Hypogonadotropic_hypogonadism_21_with_or_without_anosmia 1 low_record_burden_interpretation_limited low_record_burden_gene MACF1 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 20 large_gene_or_donor_burden_stress_case donor_burden_stress MAB21L2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene MAB21L1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene MAB21L1 medgen_c0431659 Hypoplasia of scrotum MedGen:C0431659 1 1 1.0000 condition_record_support_limited 20 0 0 Hypoplasia_of_scrotum 8 low_record_burden_interpretation_limited low_record_burden_gene M1AP human_phenotype_ontology_hp_0031038_medgen_c4477100 Spermatogenesis maturation arrest Human_Phenotype_Ontology:HP:0031038,MedGen:C4477100 1 1 1.0000 condition_record_support_limited 20 0 1 Spermatogenesis_maturation_arrest 3 low_record_burden_interpretation_limited low_record_burden_gene M1AP human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility 3 low_record_burden_interpretation_limited low_record_burden_gene LZTR1 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LZTR1 mondo_mondo_1010030_medgen_c5908419 Pediatric high-grade glioma MONDO:MONDO:1010030,MedGen:C5908419 1 1 1.0000 condition_record_support_limited 20 0 1 Pediatric_high-grade_glioma 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LZTR1 human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 1.0000 condition_record_support_limited 20 0 1 Non-immune_hydrops_fetalis 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LZTR1 lztr1_associated_calms_syndrome LZTR1-associated CaLMs-syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 LZTR1-associated_CaLMs-syndrome 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LZTR1 mondo_mondo_0008647_medgen_c3495498_omim_192600 Hypertrophic cardiomyopathy 1 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrophic_cardiomyopathy_1 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LZTR1 human_phenotype_ontology_hp_0010878_medgen_c0948242_omim_257350_orphanet_79486 Fetal cystic hygroma Human_Phenotype_Ontology:HP:0010878,MedGen:C0948242,OMIM:257350,Orphanet:79486 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_cystic_hygroma 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LZTR1 mondo_mondo_0016995_medgen_c4707361_orphanet_263662 Familial multiple meningioma MONDO:MONDO:0016995,MedGen:C4707361,Orphanet:263662 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_multiple_meningioma 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LZTR1 mondo_mondo_0016830_medgen_c0410189_omim_ps310300_orphanet_261 Emery-Dreifuss muscular dystrophy MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261 1 1 1.0000 condition_record_support_limited 20 0 1 Emery-Dreifuss_muscular_dystrophy 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LZTR1 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_disorder 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LZTR1 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 798 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LZTFL1 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 1.0000 condition_record_support_limited 20 0 0 Bardet-Biedl_syndrome 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LYST human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombocytopenia 272 large_gene_or_donor_burden_stress_case donor_burden_stress LYST human_phenotype_ontology_hp_0002719_human_phenotype_ontology_hp_0002957_human_phenotype_ontology_hp_0002964_human_phenotype_ontology_hp_0005405_medgen_c0239998 Recurrent infections Human_Phenotype_Ontology:HP:0002719,Human_Phenotype_Ontology:HP:0002957,Human_Phenotype_Ontology:HP:0002964,Human_Phenotype_Ontology:HP:0005405,MedGen:C0239998 1 1 1.0000 condition_record_support_limited 20 0 1 Recurrent_infections 272 large_gene_or_donor_burden_stress_case donor_burden_stress LYST mondo_mondo_0019751_medgen_c3890737_orphanet_93665 Autoinflammatory syndrome MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 1 1 1.0000 condition_record_support_limited 20 0 0 Autoinflammatory_syndrome 272 large_gene_or_donor_burden_stress_case donor_burden_stress LYST mondo_mondo_0008734_medgen_c1859972_omim_202300_orphanet_1501 Adrenocortical carcinoma, hereditary MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501 1 1 1.0000 condition_record_support_limited 20 0 1 Adrenocortical_carcinoma,_hereditary 272 large_gene_or_donor_burden_stress_case donor_burden_stress LYST human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_bleeding 272 large_gene_or_donor_burden_stress_case donor_burden_stress LYSET human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 3 low_record_burden_interpretation_limited low_record_burden_gene LYRM7 mondo_mondo_0007415_medgen_c3541471_omim_124000_orphanet_254902 Mitochondrial complex III deficiency nuclear type 1 MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000,Orphanet:254902 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_III_deficiency_nuclear_type_1 14 low_record_burden_interpretation_limited low_record_burden_gene LYRM4 mondo_mondo_0014269_medgen_c3810055_omim_615595_orphanet_397593 Combined oxidative phosphorylation deficiency 19 MONDO:MONDO:0014269,MedGen:C3810055,OMIM:615595,Orphanet:397593 1 1 1.0000 condition_record_support_limited 20 0 0 Combined_oxidative_phosphorylation_deficiency_19 1 low_record_burden_interpretation_limited low_record_burden_gene LY6G5B mondo_mondo_0032889_medgen_c5231482_omim_618732_orphanet_689397 Poirier-Bienvenu neurodevelopmental syndrome MONDO:MONDO:0032889,MedGen:C5231482,OMIM:618732,Orphanet:689397 1 1 1.0000 condition_record_support_limited 20 0 0 Poirier-Bienvenu_neurodevelopmental_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene LURAP1L human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Esophageal atresia/tracheoesophageal fistula Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 1.0000 condition_record_support_limited 20 0 0 Esophageal_atresia/tracheoesophageal_fistula 1 low_record_burden_interpretation_limited low_record_burden_gene LUC7L2 mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 Usher syndrome MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 1 1 1.0000 condition_record_support_limited 20 0 0 Usher_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene LTV1 mondo_mondo_0859355_medgen_c5774293_omim_620199 Inflammatory poikiloderma with hair abnormalities and acral keratoses MONDO:MONDO:0859355,MedGen:C5774293,OMIM:620199 1 1 1.0000 condition_record_support_limited 20 0 0 Inflammatory_poikiloderma_with_hair_abnormalities_and_acral_keratoses 1 low_record_burden_interpretation_limited low_record_burden_gene LTBP4 human_phenotype_ontology_hp_0000973_mondo_mondo_0016175_medgen_c0010495_orphanet_209 Cutis laxa Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209 1 1 1.0000 condition_record_support_limited 20 0 0 Cutis_laxa 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LTBP3 mondo_mondo_0009269_medgen_c3278147_omim_231050_orphanet_2623 Geleophysic dysplasia 1 MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623 1 1 1.0000 condition_record_support_limited 20 0 1 Geleophysic_dysplasia_1 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LTBP3 human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Amelogenesis imperfecta Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 1 1 1.0000 condition_record_support_limited 20 0 0 Amelogenesis_imperfecta 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LTBP2 mondo_mondo_0010194_medgen_c4552002_omim_277600_orphanet_3449 Weill-Marchesani syndrome 1 MONDO:MONDO:0010194,MedGen:C4552002,OMIM:277600,Orphanet:3449 1 1 1.0000 condition_record_support_limited 20 0 1 Weill-Marchesani_syndrome_1 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LTBP2 mondo_mondo_0100553_medgen_c0339573_omim_137760 Primary open angle glaucoma MONDO:MONDO:0100553,MedGen:C0339573,OMIM:137760 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_open_angle_glaucoma 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LTBP2 mondo_mondo_0007947_medgen_c0024796_omim_154700_orphanet_284963_orphanet_558 Marfan syndrome MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558 1 1 1.0000 condition_record_support_limited 20 0 1 Marfan_syndrome 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LTBP2 ltbp2_related_disorder LTBP2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 LTBP2-related_disorder 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LTBP2 medgen_c1135954 Incidental Discovery MedGen:C1135954 1 1 1.0000 condition_record_support_limited 20 0 0 Incidental_Discovery 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LTBP2 human_phenotype_ontology_hp_0001087_mondo_mondo_0020367_medgen_c2981140_orphanet_98977 Glaucoma of childhood Human_Phenotype_Ontology:HP:0001087,MONDO:MONDO:0020367,MedGen:C2981140,Orphanet:98977 1 1 1.0000 condition_record_support_limited 20 0 1 Glaucoma_of_childhood 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LTBP1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene LSR mondo_mondo_0008892_medgen_c4551898_omim_211600_orphanet_79306 Progressive familial intrahepatic cholestasis type 1 MONDO:MONDO:0008892,MedGen:C4551898,OMIM:211600,Orphanet:79306 1 1 1.0000 condition_record_support_limited 20 0 0 Progressive_familial_intrahepatic_cholestasis_type_1 2 low_record_burden_interpretation_limited low_record_burden_gene LSR mondo_mondo_0015762_medgen_c0268312_omim_ps211600_orphanet_172 Progressive familial intrahepatic cholestasis MONDO:MONDO:0015762,MedGen:C0268312,OMIM:PS211600,Orphanet:172 1 1 1.0000 condition_record_support_limited 20 0 0 Progressive_familial_intrahepatic_cholestasis 2 low_record_burden_interpretation_limited low_record_burden_gene LSM7 human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Leukodystrophy Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 1.0000 condition_record_support_limited 20 0 1 Leukodystrophy 2 low_record_burden_interpretation_limited low_record_burden_gene LSM7 mondo_mondo_0978294_medgen_c6012719_omim_621191 LSM7-related leukodystrophy and cerebellar atrophy MONDO:MONDO:0978294,MedGen:C6012719,OMIM:621191 1 1 1.0000 condition_record_support_limited 20 0 1 LSM7-related_leukodystrophy_and_cerebellar_atrophy 2 low_record_burden_interpretation_limited low_record_burden_gene LSM7 mondo_mondo_0032902_medgen_c5231493_omim_618763 Joubert syndrome 36 MONDO:MONDO:0032902,MedGen:C5231493,OMIM:618763 1 1 1.0000 condition_record_support_limited 20 0 1 Joubert_syndrome_36 2 low_record_burden_interpretation_limited low_record_burden_gene LSM7 in_utero_death In utero death . 1 1 1.0000 condition_record_support_limited 20 0 1 In_utero_death 2 low_record_burden_interpretation_limited low_record_burden_gene LSM11 mondo_mondo_0030361_medgen_c5551352_omim_619486 Aicardi-Goutieres syndrome 8 MONDO:MONDO:0030361,MedGen:C5551352,OMIM:619486 1 1 1.0000 condition_record_support_limited 20 0 0 Aicardi-Goutieres_syndrome_8 1 low_record_burden_interpretation_limited low_record_burden_gene LSM1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene LSM1 mondo_mondo_0978296_medgen_c6011251_omim_621193 FICUS syndrome MONDO:MONDO:0978296,MedGen:C6011251,OMIM:621193 1 1 1.0000 condition_record_support_limited 20 0 1 FICUS_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene LRSAM1 lrsam1_related_disorder LRSAM1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 LRSAM1-related_disorder 88 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRRK2 mondo_mondo_0017279_medgen_c4275179_orphanet_2828 Young-onset Parkinson disease MONDO:MONDO:0017279,MedGen:C4275179,Orphanet:2828 1 1 1.0000 condition_record_support_limited 20 0 1 Young-onset_Parkinson_disease 10 low_record_burden_interpretation_limited low_record_burden_gene LRRK2 mondo_mondo_0005180_mesh_d010300_medgen_c0030567_omim_ps168600 Parkinson disease MONDO:MONDO:0005180,MeSH:D010300,MedGen:C0030567,OMIM:PS168600 1 1 1.0000 condition_record_support_limited 20 0 1 Parkinson_disease 10 low_record_burden_interpretation_limited low_record_burden_gene LRRK2 lrrk2_related_disorder LRRK2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 LRRK2-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene LRRK2 interstitial_pulmonary_disease Interstitial pulmonary disease . 1 1 1.0000 condition_record_support_limited 20 0 0 Interstitial_pulmonary_disease 10 low_record_burden_interpretation_limited low_record_burden_gene LRRK2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 10 low_record_burden_interpretation_limited low_record_burden_gene LRRCC1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene LRRCC1 mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 1 1 1.0000 condition_record_support_limited 20 0 1 Joubert_syndrome_and_related_disorders 1 low_record_burden_interpretation_limited low_record_burden_gene LRRC7 lrrc7_associated_disorder LRRC7-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 LRRC7-associated_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene LRRC56 cutaneous_skeletal_hypophosphatemia_syndrome cutaneous-skeletal hypophosphatemia syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 cutaneous-skeletal_hypophosphatemia_syndrome 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 mondo_mondo_0019311_medgen_c0343114_orphanet_79414 Wooly hair nevus MONDO:MONDO:0019311,MedGen:C0343114,Orphanet:79414 1 1 1.0000 condition_record_support_limited 20 0 1 Wooly_hair_nevus 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 mondo_mondo_0020513_medgen_c0334517_orphanet_99865 Spermatocytic seminoma MONDO:MONDO:0020513,MedGen:C0334517,Orphanet:99865 1 1 1.0000 condition_record_support_limited 20 0 1 Spermatocytic_seminoma 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 human_phenotype_ontology_hp_0100684_mondo_mondo_0021357_medgen_c0036095 Salivary gland neoplasm Human_Phenotype_Ontology:HP:0100684,MONDO:MONDO:0021357,MedGen:C0036095 1 1 1.0000 condition_record_support_limited 20 0 1 Salivary_gland_neoplasm 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 spitz_nevus_somatic SPITZ NEVUS, SOMATIC . 1 1 1.0000 condition_record_support_limited 20 0 1 SPITZ_NEVUS,_SOMATIC 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 respiratory_ciliopathies_including_non_cf_bronchiectasis Respiratory ciliopathies including non-CF bronchiectasis . 1 1 1.0000 condition_record_support_limited 20 0 0 Respiratory_ciliopathies_including_non-CF_bronchiectasis 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 Noonan syndrome 1 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 1 1 1.0000 condition_record_support_limited 20 0 1 Noonan_syndrome_1 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 Noonan syndrome MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 1 1 1.0000 condition_record_support_limited 20 0 1 Noonan_syndrome 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 human_phenotype_ontology_hp_0030358_mondo_mondo_0005233_mesh_d002289_medgen_c0007131 Non-small cell lung carcinoma Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131 1 1 1.0000 condition_record_support_limited 20 0 1 Non-small_cell_lung_carcinoma 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 nevus_spilus_somatic NEVUS SPILUS, SOMATIC . 1 1 1.0000 condition_record_support_limited 20 0 1 NEVUS_SPILUS,_SOMATIC 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 lrrc56_related_disorder LRRC56-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 LRRC56-related_disorder 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 Kartagener syndrome MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 1 Kartagener_syndrome 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 ka_like_vemurafenib_induced_squamous_lesions KA-like vemurafenib-induced squamous lesions . 1 1 1.0000 condition_record_support_limited 20 0 1 KA-like_vemurafenib-induced_squamous_lesions 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 mondo_mondo_0003088_medgen_c0205789 Intramuscular hemangioma MONDO:MONDO:0003088,MedGen:C0205789 1 1 1.0000 condition_record_support_limited 20 0 0 Intramuscular_hemangioma 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 medgen_c3277679 EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC MedGen:C3277679 1 1 1.0000 condition_record_support_limited 20 0 1 EPIDERMAL_NEVUS_WITH_UROTHELIAL_CANCER,_SOMATIC 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC56 medgen_c4016398 COSTELLO SYNDROME, SEVERE MedGen:C4016398 1 1 1.0000 condition_record_support_limited 20 0 1 COSTELLO_SYNDROME,_SEVERE 74 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture LRRC53 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene LRRC53 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 1 low_record_burden_interpretation_limited low_record_burden_gene LRRC53 mondo_mondo_0014500_medgen_cn221670_orphanet_436242 Atrial conduction disease MONDO:MONDO:0014500,MedGen:CN221670,Orphanet:436242 1 1 1.0000 condition_record_support_limited 20 0 1 Atrial_conduction_disease 1 low_record_burden_interpretation_limited low_record_burden_gene LRRC51 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_deafness 2 low_record_burden_interpretation_limited low_record_burden_gene LRRC51 mondo_mondo_0012670_medgen_c1969621_omim_611451_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 63 MONDO:MONDO:0012670,MedGen:C1969621,OMIM:611451,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_nonsyndromic_hearing_loss_63 2 low_record_burden_interpretation_limited low_record_burden_gene LRRC45 lrrc45_associated_neurological_ciliopathy LRRC45 associated neurological ciliopathy . 1 1 1.0000 condition_record_support_limited 20 0 0 LRRC45_associated_neurological_ciliopathy 1 low_record_burden_interpretation_limited low_record_burden_gene LRRC37A2 mondo_mondo_0060764_medgen_c4012268_omim_273395_orphanet_3301 Tetraamelia syndrome 1 MONDO:MONDO:0060764,MedGen:C4012268,OMIM:273395,Orphanet:3301 1 1 1.0000 condition_record_support_limited 20 0 0 Tetraamelia_syndrome_1 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRRC37A2 human_phenotype_ontology_hp_0000089_human_phenotype_ontology_hp_0001968_human_phenotype_ontology_hp_0004741_human_phenotype_ontology_hp_0008641_mondo_mondo_0019637_medgen_c0266295_orphanet_93101 Renal hypoplasia Human_Phenotype_Ontology:HP:0000089,Human_Phenotype_Ontology:HP:0001968,Human_Phenotype_Ontology:HP:0004741,Human_Phenotype_Ontology:HP:0008641,MONDO:MONDO:0019637,MedGen:C0266295,Orphanet:93101 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_hypoplasia 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRRC37A2 human_phenotype_ontology_hp_0000110_human_phenotype_ontology_hp_0000116_human_phenotype_ontology_hp_0004721_mondo_mondo_0019638_medgen_c3536714_orphanet_93108 Renal dysplasia Human_Phenotype_Ontology:HP:0000110,Human_Phenotype_Ontology:HP:0000116,Human_Phenotype_Ontology:HP:0004721,MONDO:MONDO:0019638,MedGen:C3536714,Orphanet:93108 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_dysplasia 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRRC37A2 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRRC37A2 human_phenotype_ontology_hp_0000800_human_phenotype_ontology_hp_0008737_medgen_c1834931 Cystic renal dysplasia Human_Phenotype_Ontology:HP:0000800,Human_Phenotype_Ontology:HP:0008737,MedGen:C1834931 1 1 1.0000 condition_record_support_limited 20 0 1 Cystic_renal_dysplasia 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRRC37A2 mondo_mondo_0700039_medgen_c1838703_omim_600057_orphanet_93930 Bladder exstrophy-epispadias-cloacal extrophy complex MONDO:MONDO:0700039,MedGen:C1838703,OMIM:600057,Orphanet:93930 1 1 1.0000 condition_record_support_limited 20 0 0 Bladder_exstrophy-epispadias-cloacal_extrophy_complex 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRRC32 human_phenotype_ontology_hp_0000655_human_phenotype_ontology_hp_0007773_mondo_mondo_0020248_medgen_c0344290 Vitreoretinopathy Human_Phenotype_Ontology:HP:0000655,Human_Phenotype_Ontology:HP:0007773,MONDO:MONDO:0020248,MedGen:C0344290 1 1 1.0000 condition_record_support_limited 20 0 1 Vitreoretinopathy 3 low_record_burden_interpretation_limited low_record_burden_gene LRRC32 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 3 low_record_burden_interpretation_limited low_record_burden_gene LRRC32 human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Cleft palate Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 1.0000 condition_record_support_limited 20 0 1 Cleft_palate 3 low_record_burden_interpretation_limited low_record_burden_gene LRPPRC mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 332 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRPAP1 medgen_c4751232_orphanet_98619 Rare isolated myopia MedGen:C4751232,Orphanet:98619 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_isolated_myopia 5 low_record_burden_interpretation_limited low_record_burden_gene LRP6 mondo_mondo_0980938_medgen_cn380686_omim_621449 Osteopetrosis, autosomal dominant 4 MONDO:MONDO:0980938,MedGen:CN380686,OMIM:621449 1 1 1.0000 condition_record_support_limited 20 0 0 Osteopetrosis,_autosomal_dominant_4 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP6 human_phenotype_ontology_hp_0000202_mondo_mondo_0000358_medgen_c3266076_omim_ps119530 Orofacial cleft Human_Phenotype_Ontology:HP:0000202,MONDO:MONDO:0000358,MedGen:C3266076,OMIM:PS119530 1 1 1.0000 condition_record_support_limited 20 0 1 Orofacial_cleft 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP6 human_phenotype_ontology_hp_0000968_human_phenotype_ontology_hp_0007436_human_phenotype_ontology_hp_0007615_mondo_mondo_0019287_medgen_c0013575_omim_ps305100_orphanet_79373 Ectodermal dysplasia Human_Phenotype_Ontology:HP:0000968,Human_Phenotype_Ontology:HP:0007436,Human_Phenotype_Ontology:HP:0007615,MONDO:MONDO:0019287,MedGen:C0013575,OMIM:PS305100,Orphanet:79373 1 1 1.0000 condition_record_support_limited 20 0 0 Ectodermal_dysplasia 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP6 human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Autosomal dominant polycystic liver disease Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_polycystic_liver_disease 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP5 human_phenotype_ontology_hp_0000655_human_phenotype_ontology_hp_0007773_mondo_mondo_0020248_medgen_c0344290 Vitreoretinopathy Human_Phenotype_Ontology:HP:0000655,Human_Phenotype_Ontology:HP:0007773,MONDO:MONDO:0020248,MedGen:C0344290 1 1 1.0000 condition_record_support_limited 20 0 1 Vitreoretinopathy 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP5 medgen_c1843323_orphanet_3416 Van Buchem disease type 2 MedGen:C1843323,Orphanet:3416 1 1 1.0000 condition_record_support_limited 20 0 1 Van_Buchem_disease_type_2 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP5 human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Skeletal dysplasia Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 1 1 1.0000 condition_record_support_limited 20 0 1 Skeletal_dysplasia 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP5 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_disorder 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP5 mondo_mondo_0044675_medgen_c5567241_orphanet_498481 LRP5-related primary osteoporosis MONDO:MONDO:0044675,MedGen:C5567241,Orphanet:498481 1 1 1.0000 condition_record_support_limited 20 0 0 LRP5-related_primary_osteoporosis 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP5 medgen_c4016840 Exudative vitreoretinopathy 4, digenic MedGen:C4016840 1 1 1.0000 condition_record_support_limited 20 0 1 Exudative_vitreoretinopathy_4,_digenic 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP5 mondo_mondo_0005381_medgen_c0005940_orphanet_364803 Disorder of bone MONDO:MONDO:0005381,MedGen:C0005940,Orphanet:364803 1 1 1.0000 condition_record_support_limited 20 0 1 Disorder_of_bone 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP5 human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Autosomal dominant polycystic liver disease Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_polycystic_liver_disease 215 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRP4 other_rare_neuromuscular_disorders Other rare neuromuscular disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Other_rare_neuromuscular_disorders 46 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LRP4 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 46 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LRP2 mondo_mondo_0019354_medgen_c0265253_omim_ps108300_orphanet_828 Stickler syndrome MONDO:MONDO:0019354,MedGen:C0265253,OMIM:PS108300,Orphanet:828 1 1 1.0000 condition_record_support_limited 20 0 0 Stickler_syndrome 205 large_gene_or_donor_burden_stress_case donor_burden_stress LRP2 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 205 large_gene_or_donor_burden_stress_case donor_burden_stress LRP2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 205 large_gene_or_donor_burden_stress_case donor_burden_stress LRP1-AS mondo_mondo_0958037_medgen_c5882750_omim_620690 Developmental dysplasia of the hip 3 MONDO:MONDO:0958037,MedGen:C5882750,OMIM:620690 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_dysplasia_of_the_hip_3 1 low_record_burden_interpretation_limited low_record_burden_gene LRP1 human_phenotype_ontology_hp_0032152_human_phenotype_ontology_hp_0040180_mondo_mondo_0021036_medgen_c0263383_orphanet_3406 Keratosis pilaris Human_Phenotype_Ontology:HP:0032152,Human_Phenotype_Ontology:HP:0040180,MONDO:MONDO:0021036,MedGen:C0263383,Orphanet:3406 1 1 1.0000 condition_record_support_limited 20 0 1 Keratosis_pilaris 6 low_record_burden_interpretation_limited low_record_burden_gene LRP1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 6 low_record_burden_interpretation_limited low_record_burden_gene LRP1 human_phenotype_ontology_hp_0100837_mondo_mondo_0008849_medgen_c0263429_omim_209700_orphanet_79100 Atrophoderma vermiculatum Human_Phenotype_Ontology:HP:0100837,MONDO:MONDO:0008849,MedGen:C0263429,OMIM:209700,Orphanet:79100 1 1 1.0000 condition_record_support_limited 20 0 1 Atrophoderma_vermiculatum 6 low_record_burden_interpretation_limited low_record_burden_gene LRMDA lrmda_related_disorder LRMDA-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 LRMDA-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene LRIT3 mondo_mondo_0019353_medgen_c0271093_orphanet_827 Stargardt disease MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827 1 1 1.0000 condition_record_support_limited 20 0 0 Stargardt_disease 5 low_record_burden_interpretation_limited low_record_burden_gene LRIT3 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 5 low_record_burden_interpretation_limited low_record_burden_gene LRIG2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 11 low_record_burden_interpretation_limited low_record_burden_gene LRIF1 mondo_mondo_0030354_medgen_c5561959_omim_619477 Facioscapulohumeral muscular dystrophy 3, digenic MONDO:MONDO:0030354,MedGen:C5561959,OMIM:619477 1 1 1.0000 condition_record_support_limited 20 0 0 Facioscapulohumeral_muscular_dystrophy_3,_digenic 1 low_record_burden_interpretation_limited low_record_burden_gene LRFN4 mondo_mondo_0009949_medgen_c0034341_omim_266150_orphanet_3008 Pyruvate carboxylase deficiency MONDO:MONDO:0009949,MedGen:C0034341,OMIM:266150,Orphanet:3008 1 1 1.0000 condition_record_support_limited 20 0 0 Pyruvate_carboxylase_deficiency 1 low_record_burden_interpretation_limited low_record_burden_gene LRFN1 lrfn1 LRFN1 . 1 1 1.0000 condition_record_support_limited 20 0 0 LRFN1 1 low_record_burden_interpretation_limited low_record_burden_gene LRCH2 human_phenotype_ontology_hp_0007108_human_phenotype_ontology_hp_0007205_mondo_mondo_0003334_medgen_c0270922 Demyelinating peripheral neuropathy Human_Phenotype_Ontology:HP:0007108,Human_Phenotype_Ontology:HP:0007205,MONDO:MONDO:0003334,MedGen:C0270922 1 1 1.0000 condition_record_support_limited 20 0 1 Demyelinating_peripheral_neuropathy 1 low_record_burden_interpretation_limited low_record_burden_gene LRCH2 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 1 low_record_burden_interpretation_limited low_record_burden_gene LRAT medgen_c2750065 RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED MedGen:C2750065 1 1 1.0000 condition_record_support_limited 20 0 1 RETINITIS_PIGMENTOSA,_JUVENILE,_LRAT-RELATED 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRAT mondo_mondo_0008764_medgen_c2931258_omim_204000_orphanet_65 Leber congenital amaurosis 1 MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 1 Leber_congenital_amaurosis_1 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRAT lrat_related_disorder LRAT-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 LRAT-related_disorder 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LRAT human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_eye 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LPL mondo_mondo_0009527_medgen_c1855498_omim_246650_orphanet_535453 Lipase deficiency, combined MONDO:MONDO:0009527,MedGen:C1855498,OMIM:246650,Orphanet:535453 1 1 1.0000 condition_record_support_limited 20 0 1 Lipase_deficiency,_combined 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LPL lipoprotein_lipase_olbia LIPOPROTEIN LIPASE (OLBIA) . 1 1 1.0000 condition_record_support_limited 20 0 1 LIPOPROTEIN_LIPASE_(OLBIA) 158 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LPIN2 lpin2_related_disorder LPIN2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 LPIN2-related_disorder 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LPIN1 other_rare_neuromuscular_disorders Other rare neuromuscular disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Other_rare_neuromuscular_disorders 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LPIN1 lpin1_related_disorder LPIN1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 LPIN1-related_disorder 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LPCAT2 mondo_mondo_0018298_medgen_c1850155_orphanet_3460_orphanet_371428 Multicentric osteolysis nodulosis arthropathy spectrum MONDO:MONDO:0018298,MedGen:C1850155,Orphanet:3460,Orphanet:371428 1 1 1.0000 condition_record_support_limited 20 0 0 Multicentric_osteolysis_nodulosis_arthropathy_spectrum 1 low_record_burden_interpretation_limited low_record_burden_gene LPAR6 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 18 low_record_burden_interpretation_limited low_record_burden_gene LPAR6 mondo_mondo_0014765_medgen_c4225214_omim_616760_orphanet_170 Wooly hair, autosomal recessive 3 MONDO:MONDO:0014765,MedGen:C4225214,OMIM:616760,Orphanet:170 1 1 1.0000 condition_record_support_limited 20 0 1 Wooly_hair,_autosomal_recessive_3 18 low_record_burden_interpretation_limited low_record_burden_gene LPA medgen_c1835362 Lipoprotein(a) deficiency, congenital MedGen:C1835362 1 1 1.0000 condition_record_support_limited 20 0 0 Lipoprotein(a)_deficiency,_congenital 2 low_record_burden_interpretation_limited low_record_burden_gene LPA medgen_c5394134_omim_618807 LIPOPROTEIN(a) QUANTITATIVE TRAIT LOCUS MedGen:C5394134,OMIM:618807 1 1 1.0000 condition_record_support_limited 20 0 0 LIPOPROTEIN(a)_QUANTITATIVE_TRAIT_LOCUS 2 low_record_burden_interpretation_limited low_record_burden_gene LOXHD1 monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 0 Monogenic_hearing_loss 443 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LOXHD1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 443 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LOXHD1 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive 443 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LOX human_phenotype_ontology_hp_0004955_medgen_c1836651 Generalized arterial tortuosity Human_Phenotype_Ontology:HP:0004955,MedGen:C1836651 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_arterial_tortuosity 54 compact_adjacent_exon_block_opportunity local_compact_architecture LOX familial_aortopathy Familial aortopathy MedGen:CN078214 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_aortopathy 54 compact_adjacent_exon_block_opportunity local_compact_architecture LOX human_phenotype_ontology_hp_0000973_mondo_mondo_0016175_medgen_c0010495_orphanet_209 Cutis laxa Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209 1 1 1.0000 condition_record_support_limited 20 0 1 Cutis_laxa 54 compact_adjacent_exon_block_opportunity local_compact_architecture LOX human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy 54 compact_adjacent_exon_block_opportunity local_compact_architecture LORICRIN medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 8 low_record_burden_interpretation_limited low_record_burden_gene LONP2 siah1_related_neurodevelopmental_disorder SIAH1-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SIAH1-related_neurodevelopmental_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene LONP2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene LONP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LOC128092252 mondo_mondo_0011176_medgen_c1865974_omim_602014_orphanet_30924 Intestinal hypomagnesemia 1 MONDO:MONDO:0011176,MedGen:C1865974,OMIM:602014,Orphanet:30924 1 1 1.0000 condition_record_support_limited 20 0 0 Intestinal_hypomagnesemia_1 1 low_record_burden_interpretation_limited low_record_burden_gene LOC128092249 pcnt_related_disorder PCNT-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 PCNT-related_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene LNPK condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene LMX1B mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 148 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMX1B human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 1.0000 condition_record_support_limited 20 0 1 Nephrotic_syndrome 148 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMX1B human_phenotype_ontology_hp_0012579_mondo_mondo_0006835_medgen_c0027721 Lipoid nephrosis Human_Phenotype_Ontology:HP:0012579,MONDO:MONDO:0006835,MedGen:C0027721 1 1 1.0000 condition_record_support_limited 20 0 1 Lipoid_nephrosis 148 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMX1B mondo_mondo_0005363_medgen_cn327126_omim_ps603278 Inherited focal segmental glomerulosclerosis MONDO:MONDO:0005363,MedGen:CN327126,OMIM:PS603278 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_focal_segmental_glomerulosclerosis 148 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMX1B mondo_mondo_0008762_medgen_c4746745_omim_203780_orphanet_63_orphanet_88919 Autosomal recessive Alport syndrome MONDO:MONDO:0008762,MedGen:C4746745,OMIM:203780,Orphanet:63,Orphanet:88919 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_Alport_syndrome 148 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMX1A condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene LMOD3 lmod3_related_disorder LMOD3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 LMOD3-related_disorder 47 compact_adjacent_exon_block_opportunity local_compact_architecture LMOD2 mondo_mondo_0700335_medgen_c5679590_orphanet_154 Familial isolated dilated cardiomyopathy MONDO:MONDO:0700335,MedGen:C5679590,Orphanet:154 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_isolated_dilated_cardiomyopathy 7 low_record_burden_interpretation_limited low_record_burden_gene LMOD1 mondo_mondo_0020754_medgen_c5542197_omim_155310_orphanet_2604 Visceral myopathy 1 MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604 1 1 1.0000 condition_record_support_limited 20 0 1 Visceral_myopathy_1 3 low_record_burden_interpretation_limited low_record_burden_gene LMNB2 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 1 See_cases 4 low_record_burden_interpretation_limited low_record_burden_gene LMNB2 mondo_mondo_0014685_medgen_c4225289_omim_616540_orphanet_457265 Progressive myoclonic epilepsy type 9 MONDO:MONDO:0014685,MedGen:C4225289,OMIM:616540,Orphanet:457265 1 1 1.0000 condition_record_support_limited 20 0 0 Progressive_myoclonic_epilepsy_type_9 4 low_record_burden_interpretation_limited low_record_burden_gene LMNB2 lmnb2_related_disorder LMNB2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 LMNB2-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene LMNB1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 9 low_record_burden_interpretation_limited low_record_burden_gene LMNB1 lmnb1_related_primary_microcephaly LMNB1-related primary microcephaly . 1 1 1.0000 condition_record_support_limited 20 0 1 LMNB1-related_primary_microcephaly 9 low_record_burden_interpretation_limited low_record_burden_gene LMNA medgen_c0520806 Sudden unexplained death MedGen:C0520806 1 1 1.0000 condition_record_support_limited 20 0 1 Sudden_unexplained_death 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA human_phenotype_ontology_hp_0011704_mondo_mondo_0001823_medgen_c0037052 Sick sinus syndrome Human_Phenotype_Ontology:HP:0011704,MONDO:MONDO:0001823,MedGen:C0037052 1 1 1.0000 condition_record_support_limited 20 0 0 Sick_sinus_syndrome 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA human_phenotype_ontology_hp_0011663_medgen_c2063326 Right ventricular cardiomyopathy Human_Phenotype_Ontology:HP:0011663,MedGen:C2063326 1 1 1.0000 condition_record_support_limited 20 0 1 Right_ventricular_cardiomyopathy 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA human_phenotype_ontology_hp_0003432_human_phenotype_ontology_hp_0003475_human_phenotype_ontology_hp_0003701_human_phenotype_ontology_hp_0007195_human_phenotype_ontology_hp_0008950_human_phenotype_ontology_hp_0008961_human_phenotype_ontology_hp_0008975_human_phenotype_ontology_hp_0009033_human_phenotype_ontology_hp_0009075_medgen_c0221629 Proximal muscle weakness Human_Phenotype_Ontology:HP:0003432,Human_Phenotype_Ontology:HP:0003475,Human_Phenotype_Ontology:HP:0003701,Human_Phenotype_Ontology:HP:0007195,Human_Phenotype_Ontology:HP:0008950,Human_Phenotype_Ontology:HP:0008961,Human_Phenotype_Ontology:HP:0008975,Human_Phenotype_Ontology:HP:0009033,Human_Phenotype_Ontology:HP:0009075,MedGen:C0221629 1 1 1.0000 condition_record_support_limited 20 0 0 Proximal_muscle_weakness 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA mondo_mondo_0015362_medgen_c5548212_omim_ps182960_orphanet_140465 Neuronopathy, distal hereditary motor, autosomal dominant MONDO:MONDO:0015362,MedGen:C5548212,OMIM:PS182960,Orphanet:140465 1 1 1.0000 condition_record_support_limited 20 0 1 Neuronopathy,_distal_hereditary_motor,_autosomal_dominant 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA mondo_mondo_0015967_medgen_c3888631_orphanet_183625 Monogenic diabetes MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_diabetes 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 1.0000 condition_record_support_limited 20 0 1 Long_QT_syndrome 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Limb-girdle muscular dystrophy Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 1.0000 condition_record_support_limited 20 0 1 Limb-girdle_muscular_dystrophy 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA human_phenotype_ontology_hp_0030682_mondo_mondo_0018901_medgen_c1960469_omim_ps604169_orphanet_54260 Left ventricular noncompaction Human_Phenotype_Ontology:HP:0030682,MONDO:MONDO:0018901,MedGen:C1960469,OMIM:PS604169,Orphanet:54260 1 1 1.0000 condition_record_support_limited 20 0 1 Left_ventricular_noncompaction 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA lmna_associated_condition LMNA-associated condition . 1 1 1.0000 condition_record_support_limited 20 0 0 LMNA-associated_condition 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA mondo_mondo_0008647_medgen_c3495498_omim_192600 Hypertrophic cardiomyopathy 1 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrophic_cardiomyopathy_1 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA mondo_mondo_0020088_medgen_c0271694_omim_ps151660_orphanet_98306 Familial partial lipodystrophy MONDO:MONDO:0020088,MedGen:C0271694,OMIM:PS151660,Orphanet:98306 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_partial_lipodystrophy 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA mondo_mondo_0016830_medgen_c0410189_omim_ps310300_orphanet_261 Emery-Dreifuss muscular dystrophy MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261 1 1 1.0000 condition_record_support_limited 20 0 1 Emery-Dreifuss_muscular_dystrophy 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA early_onset_multivalvular_disease Early onset multivalvular disease . 1 1 1.0000 condition_record_support_limited 20 0 0 Early_onset_multivalvular_disease 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA mondo_mondo_0011095_medgen_c1832243_omim_601494_orphanet_154_orphanet_54260 Dilated cardiomyopathy 1D MONDO:MONDO:0011095,MedGen:C1832243,OMIM:601494,Orphanet:154,Orphanet:54260 1 1 1.0000 condition_record_support_limited 20 0 0 Dilated_cardiomyopathy_1D 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA efo_efo_0005137_mondo_mondo_0005449_medgen_c2748542 Conduction system disorder EFO:EFO_0005137,MONDO:MONDO:0005449,MedGen:C2748542 1 1 1.0000 condition_record_support_limited 20 0 0 Conduction_system_disorder 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA mondo_mondo_0024530_medgen_cn029274_omim_158810_orphanet_610 Bethlem myopathy 1A MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610 1 1 1.0000 condition_record_support_limited 20 0 1 Bethlem_myopathy_1A 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA mondo_mondo_0009676_medgen_c1850889_omim_253601_orphanet_268 Autosomal recessive limb-girdle muscular dystrophy type 2B MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMNA mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 Arrhythmogenic right ventricular cardiomyopathy MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 1 1 1.0000 condition_record_support_limited 20 0 1 Arrhythmogenic_right_ventricular_cardiomyopathy 536 compact_adjacent_exon_block_opportunity local_compact_architecture LMF1 lmf1_related_disorder LMF1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 LMF1-related_disorder 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMBRD2 brain_structure_abnormalities brain structure abnormalities . 1 1 1.0000 condition_record_support_limited 20 0 1 brain_structure_abnormalities 10 low_record_burden_interpretation_limited low_record_burden_gene LMBRD2 human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Motor delay Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 1.0000 condition_record_support_limited 20 0 1 Motor_delay 10 low_record_burden_interpretation_limited low_record_burden_gene LMBRD2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 10 low_record_burden_interpretation_limited low_record_burden_gene LMBRD2 medgen_c0432072 Dysmorphic features MedGen:C0432072 1 1 1.0000 condition_record_support_limited 20 0 1 Dysmorphic_features 10 low_record_burden_interpretation_limited low_record_burden_gene LMBRD2 medgen_c0424605 Developmental delay MedGen:C0424605 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_delay 10 low_record_burden_interpretation_limited low_record_burden_gene LMBRD1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMBRD1 disorders_of_intracellular_cobalamin_metabolism Disorders of Intracellular Cobalamin Metabolism MedGen:CN043592 1 1 1.0000 condition_record_support_limited 20 0 1 Disorders_of_Intracellular_Cobalamin_Metabolism 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LMBR1 mondo_mondo_0008515_medgen_c1861355_omim_186200_orphanet_93405 Syndactyly type 4 MONDO:MONDO:0008515,MedGen:C1861355,OMIM:186200,Orphanet:93405 1 1 1.0000 condition_record_support_limited 20 0 1 Syndactyly_type_4 18 low_record_burden_interpretation_limited low_record_burden_gene LMBR1 shh_related_disorder SHH-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 SHH-related_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene LMBR1 mondo_mondo_0007615_medgen_c1851100_omim_135750_orphanet_2378 Laurin-Sandrow syndrome MONDO:MONDO:0007615,MedGen:C1851100,OMIM:135750,Orphanet:2378 1 1 1.0000 condition_record_support_limited 20 0 1 Laurin-Sandrow_syndrome 18 low_record_burden_interpretation_limited low_record_burden_gene LMBR1 mondo_mondo_0008700_medgen_c0265559_omim_200500_orphanet_931 Acheiropodia MONDO:MONDO:0008700,MedGen:C0265559,OMIM:200500,Orphanet:931 1 1 1.0000 condition_record_support_limited 20 0 1 Acheiropodia 18 low_record_burden_interpretation_limited low_record_burden_gene LMAN2L mondo_mondo_0029465_medgen_c5676896_omim_617863 Intellectual developmental disorder, autosomal dominant 69 MONDO:MONDO:0029465,MedGen:C5676896,OMIM:617863 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder,_autosomal_dominant_69 3 low_record_burden_interpretation_limited low_record_burden_gene LMAN1 mondo_mondo_0011974_medgen_c1842475_omim_608133_orphanet_791 Retinitis pigmentosa 7 MONDO:MONDO:0011974,MedGen:C1842475,OMIM:608133,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa_7 14 low_record_burden_interpretation_limited low_record_burden_gene LMAN1 lman1_related_disorder LMAN1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 LMAN1-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene LITAF human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 1.0000 condition_record_support_limited 20 0 0 Tip-toe_gait 8 low_record_burden_interpretation_limited low_record_burden_gene LITAF mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 8 low_record_burden_interpretation_limited low_record_burden_gene LIPT2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene LIPT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 7 low_record_burden_interpretation_limited low_record_burden_gene LIPH mondo_mondo_0018914_mesh_c537160_medgen_c1854310_orphanet_55654 Hypotrichosis simplex MONDO:MONDO:0018914,MeSH:C537160,MedGen:C1854310,Orphanet:55654 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotrichosis_simplex 12 low_record_burden_interpretation_limited low_record_burden_gene LIPE condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene LINS1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LINS1 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 0 Autism 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LIMK1 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 2 low_record_burden_interpretation_limited low_record_burden_gene LIMK1 mondo_mondo_0018614_medgen_c5680057_orphanet_442835 Undetermined early-onset epileptic encephalopathy MONDO:MONDO:0018614,MedGen:C5680057,Orphanet:442835 1 1 1.0000 condition_record_support_limited 20 0 0 Undetermined_early-onset_epileptic_encephalopathy 2 low_record_burden_interpretation_limited low_record_burden_gene LIM2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene LIM2 lim2_related_disorder LIM2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 LIM2-related_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene LIM2 human_phenotype_ontology_hp_0000518_mondo_mondo_0005129_mesh_d002386_medgen_c0086543_omim_ps116200 Cataract Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200 1 1 1.0000 condition_record_support_limited 20 0 1 Cataract 3 low_record_burden_interpretation_limited low_record_burden_gene LIG4 human_phenotype_ontology_hp_0002895_mondo_mondo_0005075_mesh_d000077273_medgen_c0238463_orphanet_146 Papillary thyroid carcinoma Human_Phenotype_Ontology:HP:0002895,MONDO:MONDO:0005075,MeSH:D000077273,MedGen:C0238463,Orphanet:146 1 1 1.0000 condition_record_support_limited 20 0 0 Papillary_thyroid_carcinoma 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LIG1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene LIFR mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_anomaly_of_kidney_and_urinary_tract 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LIAS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LHX4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 13 low_record_burden_interpretation_limited low_record_burden_gene LHX2 variable_neurodevelopmental_disorder Variable neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 Variable_neurodevelopmental_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene LHX2 lhx2_associated_neurodevelopmental_disorder LHX2-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 LHX2-associated_neurodevelopmental_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene LHFPL5 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_deafness 23 compact_adjacent_exon_block_opportunity local_compact_architecture LHFPL5 monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 0 Monogenic_hearing_loss 23 compact_adjacent_exon_block_opportunity local_compact_architecture LHFPL5 lhfpl5_related_disorder LHFPL5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 LHFPL5-related_disorder 23 compact_adjacent_exon_block_opportunity local_compact_architecture LHFPL5 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 0 Hearing_impairment 23 compact_adjacent_exon_block_opportunity local_compact_architecture LHFPL5 human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 1.0000 condition_record_support_limited 20 0 1 Ear_malformation 23 compact_adjacent_exon_block_opportunity local_compact_architecture LHFPL5 medgen_c0011053 Deafness MedGen:C0011053 1 1 1.0000 condition_record_support_limited 20 0 1 Deafness 23 compact_adjacent_exon_block_opportunity local_compact_architecture LHFPL5 mondo_mondo_0019502_medgen_c5680181_omim_ps249500_orphanet_88616 Autosomal recessive non-syndromic intellectual disability MONDO:MONDO:0019502,MedGen:C5680181,OMIM:PS249500,Orphanet:88616 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_non-syndromic_intellectual_disability 23 compact_adjacent_exon_block_opportunity local_compact_architecture LHCGR mondo_mondo_0005518_medgen_c0033804 Pseudohermaphroditism MONDO:MONDO:0005518,MedGen:C0033804 1 1 1.0000 condition_record_support_limited 20 0 0 Pseudohermaphroditism 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LHCGR medgen_c4016252 Leydig hypoplasia, type I MedGen:C4016252 1 1 1.0000 condition_record_support_limited 20 0 1 Leydig_hypoplasia,_type_I 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LHCGR medgen_c2674612 Leydig cell adenoma, somatic, with male-limited precocious puberty MedGen:C2674612 1 1 1.0000 condition_record_support_limited 20 0 0 Leydig_cell_adenoma,_somatic,_with_male-limited_precocious_puberty 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LHCGR mondo_mondo_0002145_medgen_c2930619_orphanet_90771 Disorder of sexual differentiation MONDO:MONDO:0002145,MedGen:C2930619,Orphanet:90771 1 1 1.0000 condition_record_support_limited 20 0 1 Disorder_of_sexual_differentiation 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LGI4 condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene LGI4 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_akinesia_deformation_sequence_1 17 low_record_burden_interpretation_limited low_record_burden_gene LGI4 mondo_mondo_0008823_medgen_c5435650_omim_208100_orphanet_1143 Arthrogryposis multiplex congenita 2, neurogenic type MONDO:MONDO:0008823,MedGen:C5435650,OMIM:208100,Orphanet:1143 1 1 1.0000 condition_record_support_limited 20 0 0 Arthrogryposis_multiplex_congenita_2,_neurogenic_type 17 low_record_burden_interpretation_limited low_record_burden_gene LGI4 human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis_multiplex_congenita 17 low_record_burden_interpretation_limited low_record_burden_gene LGI3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene LGI1 mondo_mondo_0011640_medgen_c1853566_omim_606170_orphanet_85201 Genitopatellar syndrome MONDO:MONDO:0011640,MedGen:C1853566,OMIM:606170,Orphanet:85201 1 1 1.0000 condition_record_support_limited 20 0 1 Genitopatellar_syndrome 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LFNG mondo_mondo_0012097_medgen_c1837549_omim_608681_orphanet_2311 Spondylocostal dysostosis 2, autosomal recessive MONDO:MONDO:0012097,MedGen:C1837549,OMIM:608681,Orphanet:2311 1 1 1.0000 condition_record_support_limited 20 0 1 Spondylocostal_dysostosis_2,_autosomal_recessive 8 low_record_burden_interpretation_limited low_record_burden_gene LETM1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene LEPR mondo_mondo_0013991_medgen_c3554224_omim_614962_orphanet_66628 Obesity due to congenital leptin deficiency MONDO:MONDO:0013991,MedGen:C3554224,OMIM:614962,Orphanet:66628 1 1 1.0000 condition_record_support_limited 20 0 0 Obesity_due_to_congenital_leptin_deficiency 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LEPR human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 1.0000 condition_record_support_limited 20 0 0 Obesity 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LEPR medgen_c4013980 Early onset severe obesity MedGen:C4013980 1 1 1.0000 condition_record_support_limited 20 0 1 Early_onset_severe_obesity 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LEP lep_related_disorder LEP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 LEP-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene LEO1 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 1 low_record_burden_interpretation_limited low_record_burden_gene LEMD3 human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Cerebral arteriovenous malformation Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_arteriovenous_malformation 70 compact_adjacent_exon_block_opportunity local_compact_architecture LEMD2 mondo_mondo_0859147_medgen_c5543388_omim_619322_orphanet_659873 Marbach-Rustad progeroid syndrome MONDO:MONDO:0859147,MedGen:C5543388,OMIM:619322,Orphanet:659873 1 1 1.0000 condition_record_support_limited 20 0 0 Marbach-Rustad_progeroid_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene LEMD2 mondo_mondo_0008925_medgen_c0220721_omim_212500_orphanet_91492 Cataract 46 juvenile-onset MONDO:MONDO:0008925,MedGen:C0220721,OMIM:212500,Orphanet:91492 1 1 1.0000 condition_record_support_limited 20 0 0 Cataract_46_juvenile-onset 2 low_record_burden_interpretation_limited low_record_burden_gene LEF1 mondo_mondo_0007516_medgen_c1851849_omim_129810 Ectrodactyly and ectodermal dysplasia without cleft lip/palate MONDO:MONDO:0007516,MedGen:C1851849,OMIM:129810 1 1 1.0000 condition_record_support_limited 20 0 0 Ectrodactyly_and_ectodermal_dysplasia_without_cleft_lip/palate 6 low_record_burden_interpretation_limited low_record_burden_gene LDLRAP1 human_phenotype_ontology_hp_0000007_medgen_c0441748 Autosomal recessive inheritance Human_Phenotype_Ontology:HP:0000007,MedGen:C0441748 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_inheritance 68 compact_adjacent_exon_block_opportunity local_compact_architecture LDLRAD2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene LDLRAD2 mondo_mondo_0009140_medgen_c1857100_omim_224410_orphanet_1865 Lethal Kniest-like syndrome MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865 1 1 1.0000 condition_record_support_limited 20 0 0 Lethal_Kniest-like_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene LDLR mondo_mondo_0010417_medgen_c2677903_omim_300749_orphanet_163937 Syndromic X-linked intellectual disability Najm type MONDO:MONDO:0010417,MedGen:C2677903,OMIM:300749,Orphanet:163937 1 1 1.0000 condition_record_support_limited 20 0 1 Syndromic_X-linked_intellectual_disability_Najm_type 1933 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LDLR ldlr_related_familial_hypercholesterolemia LDLR-related familial hypercholesterolemia . 1 1 1.0000 condition_record_support_limited 20 0 1 LDLR-related_familial_hypercholesterolemia 1933 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LDLR mondo_mondo_0007751_medgen_c1704417_omim_144010 Hypercholesterolemia, autosomal dominant, type B MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010 1 1 1.0000 condition_record_support_limited 20 0 1 Hypercholesterolemia,_autosomal_dominant,_type_B 1933 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LDB3 mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 Neuromuscular disease MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 1 1 1.0000 condition_record_support_limited 20 0 1 Neuromuscular_disease 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LDB3 human_phenotype_ontology_hp_0003715_mondo_mondo_0018943_medgen_c2678065_omim_ps601419_orphanet_593 Myofibrillar myopathy Human_Phenotype_Ontology:HP:0003715,MONDO:MONDO:0018943,MedGen:C2678065,OMIM:PS601419,Orphanet:593 1 1 1.0000 condition_record_support_limited 20 0 1 Myofibrillar_myopathy 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LDB3 ldb3_related_disorder LDB3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 LDB3-related_disorder 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LDB3 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LCP2 mondo_mondo_0030302_medgen_c5543540_omim_619374 Immunodeficiency 81 MONDO:MONDO:0030302,MedGen:C5543540,OMIM:619374 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_81 1 low_record_burden_interpretation_limited low_record_burden_gene LCP1 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_breast_ovarian_cancer_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene LCK human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 1 1 1.0000 condition_record_support_limited 20 0 0 Severe_combined_immunodeficiency_disease 18 low_record_burden_interpretation_limited low_record_burden_gene LCA5 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LCA5 mondo_mondo_0014860_medgen_c4310769_omim_617004_orphanet_2924 Polycystic liver disease 2 MONDO:MONDO:0014860,MedGen:C4310769,OMIM:617004,Orphanet:2924 1 1 1.0000 condition_record_support_limited 20 0 1 Polycystic_liver_disease_2 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LCA5 mondo_mondo_0008764_medgen_c2931258_omim_204000_orphanet_65 Leber congenital amaurosis 1 MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 1 Leber_congenital_amaurosis_1 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LCA5 lca5_related_disorder LCA5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 LCA5-related_disorder 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LBX1 mondo_mondo_0030539_medgen_c5561964_omim_619483 Central hypoventilation syndrome, congenital, 3 MONDO:MONDO:0030539,MedGen:C5561964,OMIM:619483 1 1 1.0000 condition_record_support_limited 20 0 0 Central_hypoventilation_syndrome,_congenital,_3 1 low_record_burden_interpretation_limited low_record_burden_gene LBHD1 mondo_mondo_0014496_medgen_c4015253_omim_616111 Mitochondrial complex III deficiency nuclear type 9 MONDO:MONDO:0014496,MedGen:C4015253,OMIM:616111 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_III_deficiency_nuclear_type_9 1 low_record_burden_interpretation_limited low_record_burden_gene LATS2 human_phenotype_ontology_hp_0100003_mondo_mondo_0005512_medgen_c0346109_orphanet_168811 Malignant peritoneal mesothelioma Human_Phenotype_Ontology:HP:0100003,MONDO:MONDO:0005512,MedGen:C0346109,Orphanet:168811 1 1 1.0000 condition_record_support_limited 20 0 0 Malignant_peritoneal_mesothelioma 1 low_record_burden_interpretation_limited low_record_burden_gene LATS1 mondo_mondo_0002380_mesh_d009208_medgen_c0027070 Myoepithelial tumor MONDO:MONDO:0002380,MeSH:D009208,MedGen:C0027070 1 1 1.0000 condition_record_support_limited 20 0 0 Myoepithelial_tumor 3 low_record_burden_interpretation_limited low_record_burden_gene LATS1 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 3 low_record_burden_interpretation_limited low_record_burden_gene LATS1 human_phenotype_ontology_hp_0100003_mondo_mondo_0005512_medgen_c0346109_orphanet_168811 Malignant peritoneal mesothelioma Human_Phenotype_Ontology:HP:0100003,MONDO:MONDO:0005512,MedGen:C0346109,Orphanet:168811 1 1 1.0000 condition_record_support_limited 20 0 0 Malignant_peritoneal_mesothelioma 3 low_record_burden_interpretation_limited low_record_burden_gene LAS1L mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 6 low_record_burden_interpretation_limited low_record_burden_gene LAS1L human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 6 low_record_burden_interpretation_limited low_record_burden_gene LARS2 monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARS2 human_phenotype_ontology_hp_0003737_human_phenotype_ontology_hp_0008960_mondo_mondo_0009637_medgen_c0162670_orphanet_206966 Inborn mitochondrial myopathy Human_Phenotype_Ontology:HP:0003737,Human_Phenotype_Ontology:HP:0008960,MONDO:MONDO:0009637,MedGen:C0162670,Orphanet:206966 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_mitochondrial_myopathy 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARS2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARS1 lars1_related_disorder LARS1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 LARS1-related_disorder 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARP7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARP7 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 1 Epileptic_encephalopathy 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARP7 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_morphology 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARP4B mondo_mondo_0002380_mesh_d009208_medgen_c0027070 Myoepithelial tumor MONDO:MONDO:0002380,MeSH:D009208,MedGen:C0027070 1 1 1.0000 condition_record_support_limited 20 0 0 Myoepithelial_tumor 1 low_record_burden_interpretation_limited low_record_burden_gene LARGE2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene LARGE2 mondo_mondo_0032883_medgen_c5231476_omim_618725 Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures MONDO:MONDO:0032883,MedGen:C5231476,OMIM:618725 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_developmental_disorder_with_behavioral_abnormalities_and_craniofacial_dysmorphism_with_or_without_seizures 1 low_record_burden_interpretation_limited low_record_burden_gene LARGE1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARGE1 large1_related_disorder LARGE1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 LARGE1-related_disorder 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LARGE1 large1_related_disorders LARGE1-Related Disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 LARGE1-Related_Disorders 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMP2 mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 Primary familial hypertrophic cardiomyopathy MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_familial_hypertrophic_cardiomyopathy 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMP2 mesh_d056830_medgen_c2717907 Isolated Noncompaction of the Ventricular Myocardium MeSH:D056830,MedGen:C2717907 1 1 1.0000 condition_record_support_limited 20 0 0 Isolated_Noncompaction_of_the_Ventricular_Myocardium 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMC3 lamc3_related_disorder LAMC3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 LAMC3-related_disorder 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMC2 human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Abnormality of the skin Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_skin 223 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMB3 mondo_mondo_0007550_medgen_c0079295_omim_131760_orphanet_79396 Epidermolysis bullosa simplex 1A, generalized severe MONDO:MONDO:0007550,MedGen:C0079295,OMIM:131760,Orphanet:79396 1 1 1.0000 condition_record_support_limited 20 0 1 Epidermolysis_bullosa_simplex_1A,_generalized_severe 305 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMB3 human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Amelogenesis imperfecta Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 1 1 1.0000 condition_record_support_limited 20 0 0 Amelogenesis_imperfecta 305 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture LAMB2 human_phenotype_ontology_hp_0000112_mondo_mondo_0005240_medgen_c0022658 Kidney disorder Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658 1 1 1.0000 condition_record_support_limited 20 0 1 Kidney_disorder 108 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LAMB2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 108 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LAMB2 mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 Congenital myasthenic syndrome MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myasthenic_syndrome 108 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LAMB1 mondo_mondo_0005301_medgen_c0026769 Multiple sclerosis MONDO:MONDO:0005301,MedGen:C0026769 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_sclerosis 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LAMB1 lamb1_related_disorder LAMB1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 LAMB1-related_disorder 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LAMB1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 42 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture LAMA5 lama5_related_disorder LAMA5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 LAMA5-related_disorder 24 large_gene_or_donor_burden_stress_case donor_burden_stress LAMA5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 24 large_gene_or_donor_burden_stress_case donor_burden_stress LAMA5 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_disorder 24 large_gene_or_donor_burden_stress_case donor_burden_stress LAMA4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene LAMA3 lama3_related_junctional_epidermolysis_bullosa LAMA3-related junctional epidermolysis bullosa . 1 1 1.0000 condition_record_support_limited 20 0 1 LAMA3-related_junctional_epidermolysis_bullosa 266 large_gene_or_donor_burden_stress_case donor_burden_stress LAMA2 human_phenotype_ontology_hp_0003432_human_phenotype_ontology_hp_0003475_human_phenotype_ontology_hp_0003701_human_phenotype_ontology_hp_0007195_human_phenotype_ontology_hp_0008950_human_phenotype_ontology_hp_0008961_human_phenotype_ontology_hp_0008975_human_phenotype_ontology_hp_0009033_human_phenotype_ontology_hp_0009075_medgen_c0221629 Proximal muscle weakness Human_Phenotype_Ontology:HP:0003432,Human_Phenotype_Ontology:HP:0003475,Human_Phenotype_Ontology:HP:0003701,Human_Phenotype_Ontology:HP:0007195,Human_Phenotype_Ontology:HP:0008950,Human_Phenotype_Ontology:HP:0008961,Human_Phenotype_Ontology:HP:0008975,Human_Phenotype_Ontology:HP:0009033,Human_Phenotype_Ontology:HP:0009075,MedGen:C0221629 1 1 1.0000 condition_record_support_limited 20 0 0 Proximal_muscle_weakness 953 large_gene_or_donor_burden_stress_case donor_burden_stress LAMA2 efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_dilated_cardiomyopathy 953 large_gene_or_donor_burden_stress_case donor_burden_stress LAMA2 human_phenotype_ontology_hp_0003326_human_phenotype_ontology_hp_0003718_medgen_c0231528 Myalgia Human_Phenotype_Ontology:HP:0003326,Human_Phenotype_Ontology:HP:0003718,MedGen:C0231528 1 1 1.0000 condition_record_support_limited 20 0 1 Myalgia 953 large_gene_or_donor_burden_stress_case donor_burden_stress LAMA2 muscular_dystrophy_congenital_merosin_deficient_or_partially_deficient Muscular dystrophy, congenital, merosin deficient or partially deficient . 1 1 1.0000 condition_record_support_limited 20 0 1 Muscular_dystrophy,_congenital,_merosin_deficient_or_partially_deficient 953 large_gene_or_donor_burden_stress_case donor_burden_stress LAMA2 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 953 large_gene_or_donor_burden_stress_case donor_burden_stress LAMA2 human_phenotype_ontology_hp_0003738_medgen_c1850830 Exercise-induced myalgia Human_Phenotype_Ontology:HP:0003738,MedGen:C1850830 1 1 1.0000 condition_record_support_limited 20 0 1 Exercise-induced_myalgia 953 large_gene_or_donor_burden_stress_case donor_burden_stress LAMA2 human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Elevated circulating creatine kinase concentration Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 1 1 1.0000 condition_record_support_limited 20 0 1 Elevated_circulating_creatine_kinase_concentration 953 large_gene_or_donor_burden_stress_case donor_burden_stress LAMA1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 125 large_gene_or_donor_burden_stress_case donor_burden_stress LAMA1 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_disorder 125 large_gene_or_donor_burden_stress_case donor_burden_stress LACTB mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 1 low_record_burden_interpretation_limited low_record_burden_gene L3MBTL2 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 1.0000 condition_record_support_limited 20 0 0 Non-obstructive_azoospermia 1 low_record_burden_interpretation_limited low_record_burden_gene L3MBTL1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 1 low_record_burden_interpretation_limited low_record_burden_gene L3HYPDH jkamp_related_neurodevelopmental_disorder JKAMP-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 JKAMP-related_neurodevelopmental_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene L3HYPDH jkamp_neurodevelopmental_disorder JKAMP neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 JKAMP_neurodevelopmental_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene L2HGDH l2hgdh_related_disorder L2HGDH-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 L2HGDH-related_disorder 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture L2HGDH mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture L2HGDH human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture L1CAM human_phenotype_ontology_hp_0006882_medgen_c3278123 Severe hydrocephalus Human_Phenotype_Ontology:HP:0006882,MedGen:C3278123 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_hydrocephalus 203 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture L1CAM mondo_mondo_0029136_medgen_c4748327_omim_618138_orphanet_565837 Muscular dystrophy, limb-girdle, autosomal recessive 23 MONDO:MONDO:0029136,MedGen:C4748327,OMIM:618138,Orphanet:565837 1 1 1.0000 condition_record_support_limited 20 0 0 Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23 203 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture L1CAM human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 203 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture L1CAM human_phenotype_ontology_hp_0001789_mondo_mondo_0015193_medgen_c0020305_orphanet_1041 Hydrops fetalis Human_Phenotype_Ontology:HP:0001789,MONDO:MONDO:0015193,MedGen:C0020305,Orphanet:1041 1 1 1.0000 condition_record_support_limited 20 0 1 Hydrops_fetalis 203 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture L1CAM medgen_c1844006 Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction MedGen:C1844006 1 1 1.0000 condition_record_support_limited 20 0 1 Hydrocephalus,_X-linked,_with_congenital_idiopathic_intestinal_pseudoobstruction 203 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture L1CAM human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 203 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture L1CAM mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cerebellar_hypoplasia 203 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KYNU mondo_mondo_0009372_medgen_c0268474_omim_236800_orphanet_79155 Hydroxykynureninuria MONDO:MONDO:0009372,MedGen:C0268474,OMIM:236800,Orphanet:79155 1 1 1.0000 condition_record_support_limited 20 0 0 Hydroxykynureninuria 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KY mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia 8 low_record_burden_interpretation_limited low_record_burden_gene KRTCAP3 medgen_c4017084 Short-rib thoracic dysplasia 10 without polydactyly MedGen:C4017084 1 1 1.0000 condition_record_support_limited 20 0 1 Short-rib_thoracic_dysplasia_10_without_polydactyly 17 low_record_burden_interpretation_limited low_record_burden_gene KRTCAP3 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 17 low_record_burden_interpretation_limited low_record_burden_gene KRT9 palmoplantar_keratodermas Palmoplantar keratodermas . 1 1 1.0000 condition_record_support_limited 20 0 1 Palmoplantar_keratodermas 18 low_record_burden_interpretation_limited low_record_burden_gene KRT9 human_phenotype_ontology_hp_0000982_medgen_c4551675 Palmoplantar keratoderma Human_Phenotype_Ontology:HP:0000982,MedGen:C4551675 1 1 1.0000 condition_record_support_limited 20 0 1 Palmoplantar_keratoderma 18 low_record_burden_interpretation_limited low_record_burden_gene KRT86 mondo_mondo_0700343_medgen_c6012688_omim_158000 Monilethrix-1 MONDO:MONDO:0700343,MedGen:C6012688,OMIM:158000 1 1 1.0000 condition_record_support_limited 20 0 1 Monilethrix-1 8 low_record_burden_interpretation_limited low_record_burden_gene KRT85 mondo_mondo_0011177_medgen_c4024880_omim_602032_orphanet_69084 Ectodermal dysplasia 4, hair/nail type MONDO:MONDO:0011177,MedGen:C4024880,OMIM:602032,Orphanet:69084 1 1 1.0000 condition_record_support_limited 20 0 0 Ectodermal_dysplasia_4,_hair/nail_type 1 low_record_burden_interpretation_limited low_record_burden_gene KRT83 human_phenotype_ontology_hp_0032470_mondo_mondo_0008009_medgen_c0546966_omim_ps158000_orphanet_573 Monilethrix Human_Phenotype_Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:PS158000,Orphanet:573 1 1 1.0000 condition_record_support_limited 20 0 1 Monilethrix 3 low_record_burden_interpretation_limited low_record_burden_gene KRT74 mondo_mondo_0013514_medgen_c3151432_omim_613981_orphanet_90368 Hypotrichosis 3 MONDO:MONDO:0013514,MedGen:C3151432,OMIM:613981,Orphanet:90368 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotrichosis_3 3 low_record_burden_interpretation_limited low_record_burden_gene KRT71 mondo_mondo_0014390_medgen_c4014616_omim_615896_orphanet_170 Hypotrichosis 13 MONDO:MONDO:0014390,MedGen:C4014616,OMIM:615896,Orphanet:170 1 1 1.0000 condition_record_support_limited 20 0 0 Hypotrichosis_13 1 low_record_burden_interpretation_limited low_record_burden_gene KRT6C mondo_mondo_0014327_medgen_c3810394_omim_615735_orphanet_402003 Palmoplantar keratoderma, nonepidermolytic, focal or diffuse MONDO:MONDO:0014327,MedGen:C3810394,OMIM:615735,Orphanet:402003 1 1 1.0000 condition_record_support_limited 20 0 1 Palmoplantar_keratoderma,_nonepidermolytic,_focal_or_diffuse 3 low_record_burden_interpretation_limited low_record_burden_gene KRT5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 96 compact_adjacent_exon_block_opportunity local_compact_architecture KRT5 mondo_mondo_0010976_medgen_c3715082_omim_601001_orphanet_89838 Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MONDO:MONDO:0010976,MedGen:C3715082,OMIM:601001,Orphanet:89838 1 1 1.0000 condition_record_support_limited 20 0 1 Epidermolysis_bullosa_simplex_1D,_generalized,_intermediate_or_severe,_autosomal_recessive 96 compact_adjacent_exon_block_opportunity local_compact_architecture KRT5 epidermolysis_bullosa_simplex_2d_generalized_intermediate_autosomal_recessive EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE . 1 1 1.0000 condition_record_support_limited 20 0 0 EPIDERMOLYSIS_BULLOSA_SIMPLEX_2D,_GENERALIZED_INTERMEDIATE,_AUTOSOMAL_RECESSIVE 96 compact_adjacent_exon_block_opportunity local_compact_architecture KRT25 mondo_mondo_0010206_medgen_c3279470_omim_278150_orphanet_55654 Hypotrichosis 8 MONDO:MONDO:0010206,MedGen:C3279470,OMIM:278150,Orphanet:55654 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotrichosis_8 2 low_record_burden_interpretation_limited low_record_burden_gene KRT25 autosomal_recessive_hypotrichosis_with_woolly_hair Autosomal Recessive Hypotrichosis with Woolly Hair . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_Recessive_Hypotrichosis_with_Woolly_Hair 2 low_record_burden_interpretation_limited low_record_burden_gene KRT2 mondo_mondo_0017339_medgen_c1838440_orphanet_289586 Exfoliative ichthyosis MONDO:MONDO:0017339,MedGen:C1838440,Orphanet:289586 1 1 1.0000 condition_record_support_limited 20 0 1 Exfoliative_ichthyosis 11 low_record_burden_interpretation_limited low_record_burden_gene KRT17 mondo_mondo_0008798_medgen_c3277900_omim_206800_orphanet_79143_orphanet_94150 Nonsyndromic congenital nail disorder 4 MONDO:MONDO:0008798,MedGen:C3277900,OMIM:206800,Orphanet:79143,Orphanet:94150 1 1 1.0000 condition_record_support_limited 20 0 0 Nonsyndromic_congenital_nail_disorder_4 18 low_record_burden_interpretation_limited low_record_burden_gene KRT17 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 18 low_record_burden_interpretation_limited low_record_burden_gene KRT17 human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Abnormality of the skin Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_skin 18 low_record_burden_interpretation_limited low_record_burden_gene KRT16 krt16_related_disorder KRT16-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 KRT16-related_disorder 22 compact_adjacent_exon_block_opportunity local_compact_architecture KRT14 human_phenotype_ontology_hp_0007585_medgen_c1851562 Skin fragility with non-scarring blistering Human_Phenotype_Ontology:HP:0007585,MedGen:C1851562 1 1 1.0000 condition_record_support_limited 20 0 1 Skin_fragility_with_non-scarring_blistering 76 compact_adjacent_exon_block_opportunity local_compact_architecture KRT14 mondo_mondo_0010031_medgen_c0037231_omim_270200_orphanet_816 Sjögren-Larsson syndrome MONDO:MONDO:0010031,MedGen:C0037231,OMIM:270200,Orphanet:816 1 1 1.0000 condition_record_support_limited 20 0 1 Sjögren-Larsson_syndrome 76 compact_adjacent_exon_block_opportunity local_compact_architecture KRT14 human_phenotype_ontology_hp_0007446_medgen_c4024876 Palmoplantar blistering Human_Phenotype_Ontology:HP:0007446,MedGen:C4024876 1 1 1.0000 condition_record_support_limited 20 0 1 Palmoplantar_blistering 76 compact_adjacent_exon_block_opportunity local_compact_architecture KRT14 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 76 compact_adjacent_exon_block_opportunity local_compact_architecture KRT14 hp_0000750_hp_0001263 HP:0000750; HP:0001263 . 1 1 1.0000 condition_record_support_limited 20 0 0 HP:0000750%3B_HP:0001263 76 compact_adjacent_exon_block_opportunity local_compact_architecture KRT14 human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Abnormality of the skin Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_skin 76 compact_adjacent_exon_block_opportunity local_compact_architecture KRT12 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 10 low_record_burden_interpretation_limited low_record_burden_gene KRT10 mondo_mondo_0100303_medgen_cn324065_omim_607602 Ichthyosis, annular epidermolytic 1 MONDO:MONDO:0100303,MedGen:CN324065,OMIM:607602 1 1 1.0000 condition_record_support_limited 20 0 1 Ichthyosis,_annular_epidermolytic_1 41 compact_adjacent_exon_block_opportunity local_compact_architecture KRT10 mondo_mondo_0007809_medgen_c0432311_omim_146600 Ichthyosis hystrix gravior MONDO:MONDO:0007809,MedGen:C0432311,OMIM:146600 1 1 1.0000 condition_record_support_limited 20 0 0 Ichthyosis_hystrix_gravior 41 compact_adjacent_exon_block_opportunity local_compact_architecture KRT10 ichthyosis_and_erythrokeratoderma Ichthyosis and erythrokeratoderma . 1 1 1.0000 condition_record_support_limited 20 0 1 Ichthyosis_and_erythrokeratoderma 41 compact_adjacent_exon_block_opportunity local_compact_architecture KRT10 mondo_mondo_0044656_medgen_c1302848_orphanet_497737 Epidermolytic nevus MONDO:MONDO:0044656,MedGen:C1302848,Orphanet:497737 1 1 1.0000 condition_record_support_limited 20 0 1 Epidermolytic_nevus 41 compact_adjacent_exon_block_opportunity local_compact_architecture KRT10 mondo_mondo_0002962_medgen_c1333414 Epidermolytic acanthoma MONDO:MONDO:0002962,MedGen:C1333414 1 1 1.0000 condition_record_support_limited 20 0 1 Epidermolytic_acanthoma 41 compact_adjacent_exon_block_opportunity local_compact_architecture KRT10 mondo_mondo_0007550_medgen_c0079295_omim_131760_orphanet_79396 Epidermolysis bullosa simplex 1A, generalized severe MONDO:MONDO:0007550,MedGen:C0079295,OMIM:131760,Orphanet:79396 1 1 1.0000 condition_record_support_limited 20 0 0 Epidermolysis_bullosa_simplex_1A,_generalized_severe 41 compact_adjacent_exon_block_opportunity local_compact_architecture KRT10 mondo_mondo_0020702_medgen_cn377632_orphanet_312 Autosomal dominant epidermolytic ichthyosis MONDO:MONDO:0020702,MedGen:CN377632,Orphanet:312 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_epidermolytic_ichthyosis 41 compact_adjacent_exon_block_opportunity local_compact_architecture KRT1 human_phenotype_ontology_hp_0007559_mondo_mondo_0968949_medgen_c1721006_omim_ps144200 Palmoplantar keratoderma, epidermolytic Human_Phenotype_Ontology:HP:0007559,MONDO:MONDO:0968949,MedGen:C1721006,OMIM:PS144200 1 1 1.0000 condition_record_support_limited 20 0 1 Palmoplantar_keratoderma,_epidermolytic 48 compact_adjacent_exon_block_opportunity local_compact_architecture KRT1 mondo_mondo_0012208_medgen_c3665704_omim_609165_orphanet_281190 Congenital reticular ichthyosiform erythroderma MONDO:MONDO:0012208,MedGen:C3665704,OMIM:609165,Orphanet:281190 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_reticular_ichthyosiform_erythroderma 48 compact_adjacent_exon_block_opportunity local_compact_architecture KRIT1 medgen_c1861786 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MedGen:C1861786 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperkeratotic_cutaneous_capillary-venous_malformations_associated_with_cerebral_capillary_malformations 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRIT1 human_phenotype_ontology_hp_0100659_medgen_c4022001 Abnormal cerebral vascular morphology Human_Phenotype_Ontology:HP:0100659,MedGen:C4022001 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_cerebral_vascular_morphology 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KREMEN1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 2 low_record_burden_interpretation_limited low_record_burden_gene KREMEN1 mondo_mondo_0044305_medgen_c4479322_omim_617392 Ectodermal dysplasia 13, hair/tooth type MONDO:MONDO:0044305,MedGen:C4479322,OMIM:617392 1 1 1.0000 condition_record_support_limited 20 0 0 Ectodermal_dysplasia_13,_hair/tooth_type 2 low_record_burden_interpretation_limited low_record_burden_gene KRAS human_phenotype_ontology_hp_0012721_medgen_c2937220 Venous malformation Human_Phenotype_Ontology:HP:0012721,MedGen:C2937220 1 1 1.0000 condition_record_support_limited 20 0 0 Venous_malformation 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS vascular_tumors_including_pyogenic_granuloma Vascular Tumors Including Pyogenic Granuloma . 1 1 1.0000 condition_record_support_limited 20 0 1 Vascular_Tumors_Including_Pyogenic_Granuloma 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0008567_medgen_c4721429_omim_188550 Thyroid cancer, nonmedullary, 1 MONDO:MONDO:0008567,MedGen:C4721429,OMIM:188550 1 1 1.0000 condition_record_support_limited 20 0 0 Thyroid_cancer,_nonmedullary,_1 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS human_phenotype_ontology_hp_0030359_mondo_mondo_0005097_medgen_c0149782 Squamous cell lung carcinoma Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782 1 1 1.0000 condition_record_support_limited 20 0 1 Squamous_cell_lung_carcinoma 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0011098_medgen_c4722327_omim_601518_orphanet_1331 Prostate cancer, hereditary, 1 MONDO:MONDO:0011098,MedGen:C4722327,OMIM:601518,Orphanet:1331 1 1 1.0000 condition_record_support_limited 20 0 1 Prostate_cancer,_hereditary,_1 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS medgen_c4302356 Primary low grade serous adenocarcinoma of ovary MedGen:C4302356 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_low_grade_serous_adenocarcinoma_of_ovary 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS human_phenotype_ontology_hp_0033680_mondo_mondo_0016691_medgen_c0334583_orphanet_251612 Pilocytic astrocytoma Human_Phenotype_Ontology:HP:0033680,MONDO:MONDO:0016691,MedGen:C0334583,Orphanet:251612 1 1 1.0000 condition_record_support_limited 20 0 1 Pilocytic_astrocytoma 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mosaic_kras_related_syndrome Mosaic KRAS-related syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 Mosaic_KRAS-related_syndrome 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0006279_medgen_c1708781 Lung sarcomatoid carcinoma MONDO:MONDO:0006279,MedGen:C1708781 1 1 1.0000 condition_record_support_limited 20 0 1 Lung_sarcomatoid_carcinoma 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS human_phenotype_ontology_hp_0030078_mondo_mondo_0005061_mesh_d000077192_medgen_c0152013 Lung adenocarcinoma Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013 1 1 1.0000 condition_record_support_limited 20 0 1 Lung_adenocarcinoma 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS kras_related_rasopathy KRAS-related RASopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 KRAS-related_RASopathy 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0007648_medgen_c1708349_omim_137215_orphanet_26106 Hereditary diffuse gastric adenocarcinoma MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:26106 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_diffuse_gastric_adenocarcinoma 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_breast_ovarian_cancer_syndrome 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS human_phenotype_ontology_hp_0010816_mondo_mondo_0008093_medgen_c0334082_omim_162900_orphanet_79414 Epidermal nevus Human_Phenotype_Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414 1 1 1.0000 condition_record_support_limited 20 0 1 Epidermal_nevus 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0006193_medgen_c1516855 Endometrial hyperplasia without atypia MONDO:MONDO:0006193,MedGen:C1516855 1 1 1.0000 condition_record_support_limited 20 0 1 Endometrial_hyperplasia_without_atypia 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS congenital_pulmonary_airway_malformations Congenital Pulmonary Airway Malformations . 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_Pulmonary_Airway_Malformations 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 1 Colorectal_cancer 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS human_phenotype_ontology_hp_0005506_human_phenotype_ontology_hp_0005544_mondo_mondo_0011996_mesh_d015464_medgen_c0279543_omim_608232_orphanet_521 Chronic myelogenous leukemia, BCR-ABL1 positive Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521 1 1 1.0000 condition_record_support_limited 20 0 1 Chronic_myelogenous_leukemia,_BCR-ABL1_positive 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0007265_medgen_cn029449_omim_115150_orphanet_1340 Cardiofaciocutaneous syndrome 1 MONDO:MONDO:0007265,MedGen:CN029449,OMIM:115150,Orphanet:1340 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiofaciocutaneous_syndrome_1 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0020783_medgen_c4747394_omim_608354_orphanet_137667 Capillary malformation-arteriovenous malformation 1 MONDO:MONDO:0020783,MedGen:C4747394,OMIM:608354,Orphanet:137667 1 1 1.0000 condition_record_support_limited 20 0 1 Capillary_malformation-arteriovenous_malformation_1 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS capillary_telangiectasia_brain Capillary Telangiectasia, Brain . 1 1 1.0000 condition_record_support_limited 20 0 0 Capillary_Telangiectasia,_Brain 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0004988_medgen_c0858252 Breast adenocarcinoma MONDO:MONDO:0004988,MedGen:C0858252 1 1 1.0000 condition_record_support_limited 20 0 1 Breast_adenocarcinoma 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS medgen_c4016403 Bladder cancer, transitional cell, somatic MedGen:C4016403 1 1 1.0000 condition_record_support_limited 20 0 0 Bladder_cancer,_transitional_cell,_somatic 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KRAS mondo_mondo_0006096_medgen_c0349579 Atypical endometrial hyperplasia MONDO:MONDO:0006096,MedGen:C0349579 1 1 1.0000 condition_record_support_limited 20 0 1 Atypical_endometrial_hyperplasia 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KNSTRN mondo_mondo_0013226_medgen_c2750068_omim_613328_orphanet_221139 Combined immunodeficiency with faciooculoskeletal anomalies MONDO:MONDO:0013226,MedGen:C2750068,OMIM:613328,Orphanet:221139 1 1 1.0000 condition_record_support_limited 20 0 0 Combined_immunodeficiency_with_faciooculoskeletal_anomalies 1 low_record_burden_interpretation_limited low_record_burden_gene KNL1 knl1_related_disorder KNL1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 KNL1-related_disorder 22 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KNL1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 22 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KNG1 medgen_c1856719 KININOGEN DEFICIENCY, TOTAL MedGen:C1856719 1 1 1.0000 condition_record_support_limited 20 0 1 KININOGEN_DEFICIENCY,_TOTAL 9 low_record_burden_interpretation_limited low_record_burden_gene KMT5B medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_intellectual_disability 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KMT5B human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KMT5B human_phenotype_ontology_hp_0045005_mondo_mondo_0018075_medgen_c0027794_orphanet_3388_orphanet_823 Neural tube defect Human_Phenotype_Ontology:HP:0045005,MONDO:MONDO:0018075,MedGen:C0027794,Orphanet:3388,Orphanet:823 1 1 1.0000 condition_record_support_limited 20 0 1 Neural_tube_defect 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KMT5B kmt5b_related_disorder KMT5B-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 KMT5B-related_disorder 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KMT5B human_phenotype_ontology_hp_0000729_medgen_c0856975 Autistic behavior Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 1.0000 condition_record_support_limited 20 0 1 Autistic_behavior 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KMT2E mondo_mondo_0060596_medgen_c4540327_omim_617755_orphanet_686482 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies MONDO:MONDO:0060596,MedGen:C4540327,OMIM:617755,Orphanet:686482 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_dysmorphic_facies_and_distal_limb_anomalies 136 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2E human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 136 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2E human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 136 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2D human_phenotype_ontology_hp_0030713_mondo_mondo_0015196_medgen_c0431420_orphanet_1053 Vein of Galen aneurysmal malformation Human_Phenotype_Ontology:HP:0030713,MONDO:MONDO:0015196,MedGen:C0431420,Orphanet:1053 1 1 1.0000 condition_record_support_limited 20 0 1 Vein_of_Galen_aneurysmal_malformation 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2D smith_magenis_syndrome_like Smith-Magenis Syndrome-like . 1 1 1.0000 condition_record_support_limited 20 0 0 Smith-Magenis_Syndrome-like 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2D human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2D mondo_mondo_0043195_medgen_c2931052 Rubinstein Taybi like syndrome MONDO:MONDO:0043195,MedGen:C2931052 1 1 1.0000 condition_record_support_limited 20 0 0 Rubinstein_Taybi_like_syndrome 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2D medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_intellectual_disability 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2D mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2D human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2D human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2D human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_myeloma 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2D human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2D medgen_c5681167_orphanet_399775 Male infertility with spermatogenesis disorder MedGen:C5681167,Orphanet:399775 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_spermatogenesis_disorder 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2D mondo_mondo_0009072_mesh_d003616_medgen_c0010964_omim_220200_orphanet_217 Dandy-Walker syndrome MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217 1 1 1.0000 condition_record_support_limited 20 0 1 Dandy-Walker_syndrome 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2D mondo_mondo_0013419_medgen_c3151078_omim_613783 Complement component C1s deficiency MONDO:MONDO:0013419,MedGen:C3151078,OMIM:613783 1 1 1.0000 condition_record_support_limited 20 0 0 Complement_component_C1s_deficiency 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2D mondo_mondo_0008965_medgen_c0265354_orphanet_138 CHARGE syndrome MONDO:MONDO:0008965,MedGen:C0265354,Orphanet:138 1 1 1.0000 condition_record_support_limited 20 0 1 CHARGE_syndrome 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2D mondo_mondo_0014361_medgen_c4014435_omim_615834_orphanet_352490 Autism spectrum disorder due to AUTS2 deficiency MONDO:MONDO:0014361,MedGen:C4014435,OMIM:615834,Orphanet:352490 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder_due_to_AUTS2_deficiency 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2D human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2D human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 1026 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2C mondo_mondo_0000508_medgen_c5680525_orphanet_183763 Syndromic intellectual disability MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 1.0000 condition_record_support_limited 20 0 1 Syndromic_intellectual_disability 174 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2C medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_intellectual_disability 174 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2C mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 174 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2C human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 174 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2C mondo_mondo_0016865_medgen_c5680724_orphanet_261652 Kleefstra syndrome due to a point mutation MONDO:MONDO:0016865,MedGen:C5680724,Orphanet:261652 1 1 1.0000 condition_record_support_limited 20 0 1 Kleefstra_syndrome_due_to_a_point_mutation 174 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2C mondo_mondo_0027407_medgen_c0795833_omim_610253_orphanet_261494 Kleefstra syndrome 1 MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494 1 1 1.0000 condition_record_support_limited 20 0 1 Kleefstra_syndrome_1 174 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2C mondo_mondo_0012455_medgen_c4551771_omim_ps610253_orphanet_261494 Kleefstra syndrome MONDO:MONDO:0012455,MedGen:C4551771,OMIM:PS610253,Orphanet:261494 1 1 1.0000 condition_record_support_limited 20 0 0 Kleefstra_syndrome 174 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2C human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 174 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2C mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 174 large_gene_or_donor_burden_stress_case donor_burden_stress KMT2B human_phenotype_ontology_hp_0001328_human_phenotype_ontology_hp_0007234_mondo_mondo_0016225_medgen_c4025790_orphanet_211047 Specific learning disability Human_Phenotype_Ontology:HP:0001328,Human_Phenotype_Ontology:HP:0007234,MONDO:MONDO:0016225,MedGen:C4025790,Orphanet:211047 1 1 1.0000 condition_record_support_limited 20 0 1 Specific_learning_disability 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2B medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_intellectual_disability 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2B human_phenotype_ontology_hp_0001336_human_phenotype_ontology_hp_0002535_human_phenotype_ontology_hp_0007087_medgen_c0027066 Myoclonus Human_Phenotype_Ontology:HP:0001336,Human_Phenotype_Ontology:HP:0002535,Human_Phenotype_Ontology:HP:0007087,MedGen:C0027066 1 1 1.0000 condition_record_support_limited 20 0 1 Myoclonus 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2B human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2B human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2B human_phenotype_ontology_hp_0007325_mondo_mondo_0000476_medgen_c1848954_orphanet_376724 Generalized dystonia Human_Phenotype_Ontology:HP:0007325,MONDO:MONDO:0000476,MedGen:C1848954,Orphanet:376724 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_dystonia 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2B human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 0 Autism 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2B human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2A intellectual_deficiency intellectual deficiency MedGen:CN228659 1 1 1.0000 condition_record_support_limited 20 0 1 intellectual_deficiency 520 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2A mondo_mondo_0043195_medgen_c2931052 Rubinstein Taybi like syndrome MONDO:MONDO:0043195,MedGen:C2931052 1 1 1.0000 condition_record_support_limited 20 0 0 Rubinstein_Taybi_like_syndrome 520 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2A mondo_mondo_0007843_medgen_cn030661_omim_147920_orphanet_2322 Kabuki syndrome 1 MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322 1 1 1.0000 condition_record_support_limited 20 0 0 Kabuki_syndrome_1 520 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2A human_phenotype_ontology_hp_0001007_medgen_c0019572 Hirsutism Human_Phenotype_Ontology:HP:0001007,MedGen:C0019572 1 1 1.0000 condition_record_support_limited 20 0 1 Hirsutism 520 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2A mondo_mondo_0007387_medgen_c4551851_omim_122470_orphanet_199 Cornelia de Lange syndrome 1 MONDO:MONDO:0007387,MedGen:C4551851,OMIM:122470,Orphanet:199 1 1 1.0000 condition_record_support_limited 20 0 1 Cornelia_de_Lange_syndrome_1 520 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KMT2A mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 520 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KLK11 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene KLHL7 human_phenotype_ontology_hp_0005684_mondo_mondo_0019942_medgen_c0265213_omim_ps108120_orphanet_97120 Distal arthrogryposis Human_Phenotype_Ontology:HP:0005684,MONDO:MONDO:0019942,MedGen:C0265213,OMIM:PS108120,Orphanet:97120 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_arthrogryposis 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KLHL7 mondo_mondo_0011510_medgen_c0796232_omim_605039_orphanet_97297 Bohring-Opitz syndrome MONDO:MONDO:0011510,MedGen:C0796232,OMIM:605039,Orphanet:97297 1 1 1.0000 condition_record_support_limited 20 0 1 Bohring-Opitz_syndrome 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KLHL41 mondo_mondo_0018958_medgen_c0206157_omim_ps161800_orphanet_607 Nemaline myopathy MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607 1 1 1.0000 condition_record_support_limited 20 0 1 Nemaline_myopathy 32 compact_adjacent_exon_block_opportunity local_compact_architecture KLHL41 klhl41_related_disorder KLHL41-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 KLHL41-related_disorder 32 compact_adjacent_exon_block_opportunity local_compact_architecture KLHL40 klhl40_related_disorder KLHL40-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 KLHL40-related_disorder 44 compact_adjacent_exon_block_opportunity local_compact_architecture KLHL3 renal_tubulopathies Renal tubulopathies . 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_tubulopathies 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KLHL3 human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_palsy 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KLHL24 klhl24_related_disorder KLHL24-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 KLHL24-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene KLHL20 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 7 low_record_burden_interpretation_limited low_record_burden_gene KLHL20 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene KLHL20 klhl20_related_disorder KLHL20-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 KLHL20-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene KLHL20 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 7 low_record_burden_interpretation_limited low_record_burden_gene KLHL20 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 7 low_record_burden_interpretation_limited low_record_burden_gene KLHL17 human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Esophageal atresia/tracheoesophageal fistula Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 1.0000 condition_record_support_limited 20 0 0 Esophageal_atresia/tracheoesophageal_fistula 1 low_record_burden_interpretation_limited low_record_burden_gene KLHL15 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene KLHL15 mondo_mondo_0010508_medgen_c4310818_omim_300982 Intellectual disability, X-linked 103 MONDO:MONDO:0010508,MedGen:C4310818,OMIM:300982 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_X-linked_103 3 low_record_burden_interpretation_limited low_record_burden_gene KLHL15 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 3 low_record_burden_interpretation_limited low_record_burden_gene KLHL10 mondo_mondo_0014037_medgen_c3554453_omim_615081 Spermatogenic failure 11 MONDO:MONDO:0014037,MedGen:C3554453,OMIM:615081 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_11 1 low_record_burden_interpretation_limited low_record_burden_gene KLHDC2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene KLHDC2 mondo_mondo_0030849_medgen_c5436813_omim_619099 Intellectual developmental disorder with speech delay and axonal peripheral neuropathy MONDO:MONDO:0030849,MedGen:C5436813,OMIM:619099 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder_with_speech_delay_and_axonal_peripheral_neuropathy 2 low_record_burden_interpretation_limited low_record_burden_gene KLF7 intellectual_deficiency intellectual deficiency MedGen:CN228659 1 1 1.0000 condition_record_support_limited 20 0 1 intellectual_deficiency 1 low_record_burden_interpretation_limited low_record_burden_gene KLF7 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene KLF7 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene KLF7 klf7_related_disorder KLF7-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 KLF7-related_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene KLF7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 1 low_record_burden_interpretation_limited low_record_burden_gene KLF6 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 1 1 1.0000 condition_record_support_limited 20 0 0 Gastric_cancer 6 low_record_burden_interpretation_limited low_record_burden_gene KLF5 mondo_mondo_0013211_medgen_c2750091_omim_613286_orphanet_154 Dilated cardiomyopathy 1FF MONDO:MONDO:0013211,MedGen:C2750091,OMIM:613286,Orphanet:154 1 1 1.0000 condition_record_support_limited 20 0 0 Dilated_cardiomyopathy_1FF 1 low_record_burden_interpretation_limited low_record_burden_gene KLF2 mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 1 1 1.0000 condition_record_support_limited 20 0 0 Inherited_Immunodeficiency_Diseases 1 low_record_burden_interpretation_limited low_record_burden_gene KLF1 mondo_mondo_0009281_medgen_c0268595_omim_231670_orphanet_25 Glutaric aciduria, type 1 MONDO:MONDO:0009281,MedGen:C0268595,OMIM:231670,Orphanet:25 1 1 1.0000 condition_record_support_limited 20 0 1 Glutaric_aciduria,_type_1 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KLC4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene KLC4 mondo_mondo_0700288_medgen_c6012705_omim_621129 Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy MONDO:MONDO:0700288,MedGen:C6012705,OMIM:621129 1 1 1.0000 condition_record_support_limited 20 0 0 Early-childhood-onset_neurodegeneration_with_retinitis_pigmentosa,_sensorineural_hearing_loss,_and_demyelinating_peripheral_neuropathy 2 low_record_burden_interpretation_limited low_record_burden_gene KLC2 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 2 low_record_burden_interpretation_limited low_record_burden_gene KLC2 mondo_mondo_0012297_medgen_c1836010_omim_609541_orphanet_320406 Spastic paraplegia, optic atropy, and neuropathy MONDO:MONDO:0012297,MedGen:C1836010,OMIM:609541,Orphanet:320406 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_paraplegia,_optic_atropy,_and_neuropathy 2 low_record_burden_interpretation_limited low_record_burden_gene KLB medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 1 low_record_burden_interpretation_limited low_record_burden_gene KIZ mondo_mondo_0060578_medgen_c4540192_omim_617710_orphanet_572798 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MONDO:MONDO:0060578,MedGen:C4540192,OMIM:617710,Orphanet:572798 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder,_mitochondrial,_with_abnormal_movements_and_lactic_acidosis,_with_or_without_seizures 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIZ kiz_related_disorder KIZ-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 KIZ-related_disorder 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KITLG mondo_mondo_0014738_medgen_c4225241_omim_616697_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 69 MONDO:MONDO:0014738,MedGen:C4225241,OMIM:616697,Orphanet:90635 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_nonsyndromic_hearing_loss_69 11 low_record_burden_interpretation_limited low_record_burden_gene KIT medgen_c4016297 Piebaldism, progressive MedGen:C4016297 1 1 1.0000 condition_record_support_limited 20 0 0 Piebaldism,_progressive 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIT medgen_c4016294 Piebaldism with sensorineural deafness MedGen:C4016294 1 1 1.0000 condition_record_support_limited 20 0 0 Piebaldism_with_sensorineural_deafness 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIT human_phenotype_ontology_hp_0100495_mondo_mondo_0007950_medgen_c0024899_orphanet_98292 Mastocytosis Human_Phenotype_Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899,Orphanet:98292 1 1 1.0000 condition_record_support_limited 20 0 0 Mastocytosis 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIT mondo_mondo_0010108_medgen_c1336708_omim_273300_orphanet_363504 Germ cell tumor of testis MONDO:MONDO:0010108,MedGen:C1336708,OMIM:273300,Orphanet:363504 1 1 1.0000 condition_record_support_limited 20 0 1 Germ_cell_tumor_of_testis 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIT human_phenotype_ontology_hp_0100621_mondo_mondo_0003002_medgen_c0013377 Dysgerminoma Human_Phenotype_Ontology:HP:0100621,MONDO:MONDO:0003002,MedGen:C0013377 1 1 1.0000 condition_record_support_limited 20 0 1 Dysgerminoma 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIT medgen_c2698309 B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged MedGen:C2698309 1 1 1.0000 condition_record_support_limited 20 0 1 B_Lymphoblastic_Leukemia/Lymphoma_with_t(v%3B11q23.3)%3B_KMT2A_Rearranged 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIT autosomal_dominant_kit_related_disorders Autosomal dominant KIT-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_KIT-related_disorders 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KISS1R human_phenotype_ontology_hp_0000119_human_phenotype_ontology_hp_0008658_human_phenotype_ontology_hp_0008688_human_phenotype_ontology_hp_0008704_human_phenotype_ontology_hp_0008713_mondo_mondo_0019356_medgen_c0042063_orphanet_83001 Urogenital tract malformation Human_Phenotype_Ontology:HP:0000119,Human_Phenotype_Ontology:HP:0008658,Human_Phenotype_Ontology:HP:0008688,Human_Phenotype_Ontology:HP:0008704,Human_Phenotype_Ontology:HP:0008713,MONDO:MONDO:0019356,MedGen:C0042063,Orphanet:83001 1 1 1.0000 condition_record_support_limited 20 0 1 Urogenital_tract_malformation 16 low_record_burden_interpretation_limited low_record_burden_gene KISS1R mondo_mondo_0019828_medgen_c4053775_orphanet_95496 Pituitary stalk interruption syndrome MONDO:MONDO:0019828,MedGen:C4053775,Orphanet:95496 1 1 1.0000 condition_record_support_limited 20 0 0 Pituitary_stalk_interruption_syndrome 16 low_record_burden_interpretation_limited low_record_burden_gene KISS1R kiss1r_related_disorder KISS1R-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 KISS1R-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene KISS1R mondo_mondo_0013910_medgen_c3553841_omim_614837_orphanet_478 Hypogonadotropic hypogonadism 8 with or without anosmia MONDO:MONDO:0013910,MedGen:C3553841,OMIM:614837,Orphanet:478 1 1 1.0000 condition_record_support_limited 20 0 1 Hypogonadotropic_hypogonadism_8_with_or_without_anosmia 16 low_record_burden_interpretation_limited low_record_burden_gene KISS1R human_phenotype_ontology_hp_0000044_human_phenotype_ontology_hp_0003335_human_phenotype_ontology_hp_0008224_mondo_mondo_0018555_medgen_c0271623_omim_ps147950_orphanet_432 Hypogonadotropic hypogonadism Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432 1 1 1.0000 condition_record_support_limited 20 0 1 Hypogonadotropic_hypogonadism 16 low_record_burden_interpretation_limited low_record_burden_gene KISS1R mondo_mondo_0008302_medgen_c3805879_omim_176400_orphanet_759 Central precocious puberty 1 MONDO:MONDO:0008302,MedGen:C3805879,OMIM:176400,Orphanet:759 1 1 1.0000 condition_record_support_limited 20 0 1 Central_precocious_puberty_1 16 low_record_burden_interpretation_limited low_record_burden_gene KIRREL3 mondo_mondo_0012947_medgen_c2675487_omim_612581 Intellectual disability, autosomal dominant 4 MONDO:MONDO:0012947,MedGen:C2675487,OMIM:612581 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_autosomal_dominant_4 3 low_record_burden_interpretation_limited low_record_burden_gene KIRREL2 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 1.0000 condition_record_support_limited 20 0 1 Nephrotic_syndrome 40 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture KIRREL2 nphs1_related_disorder NPHS1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 NPHS1-related_disorder 40 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture KIRREL2 infantile_nephrotic_syndrome Infantile Nephrotic syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 Infantile_Nephrotic_syndrome 40 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture KIFBP kifbp_related_disorder KIFBP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 KIFBP-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene KIF7 medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_intellectual_disability 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF7 mondo_mondo_0007335_mesh_c566121_medgen_c1861537_omim_119530 Orofacial cleft 1 MONDO:MONDO:0007335,MeSH:C566121,MedGen:C1861537,OMIM:119530 1 1 1.0000 condition_record_support_limited 20 0 0 Orofacial_cleft_1 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF7 medgen_c3280899 JOUBERT SYNDROME 12/15, DIGENIC MedGen:C3280899 1 1 1.0000 condition_record_support_limited 20 0 1 JOUBERT_SYNDROME_12/15,_DIGENIC 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF5C human_phenotype_ontology_hp_0002539_human_phenotype_ontology_hp_0007139_mondo_mondo_0017094_medgen_c0431380_orphanet_268950 Cortical dysplasia Human_Phenotype_Ontology:HP:0002539,Human_Phenotype_Ontology:HP:0007139,MONDO:MONDO:0017094,MedGen:C0431380,Orphanet:268950 1 1 1.0000 condition_record_support_limited 20 0 1 Cortical_dysplasia 10 low_record_burden_interpretation_limited low_record_burden_gene KIF5B condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene KIF5B human_phenotype_ontology_hp_0003756_mondo_mondo_0020120_medgen_c1533847_orphanet_98472 Skeletal myopathy Human_Phenotype_Ontology:HP:0003756,MONDO:MONDO:0020120,MedGen:C1533847,Orphanet:98472 1 1 1.0000 condition_record_support_limited 20 0 1 Skeletal_myopathy 4 low_record_burden_interpretation_limited low_record_burden_gene KIF5B human_phenotype_ontology_hp_0002347_human_phenotype_ontology_hp_0006829_medgen_c1839630 Severe muscular hypotonia Human_Phenotype_Ontology:HP:0002347,Human_Phenotype_Ontology:HP:0006829,MedGen:C1839630 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_muscular_hypotonia 4 low_record_burden_interpretation_limited low_record_burden_gene KIF5B human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 4 low_record_burden_interpretation_limited low_record_burden_gene KIF5B efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 4 low_record_burden_interpretation_limited low_record_burden_gene KIF5B human_phenotype_ontology_hp_0000602_mondo_mondo_0003425_medgen_c0029089 Ophthalmoplegia Human_Phenotype_Ontology:HP:0000602,MONDO:MONDO:0003425,MedGen:C0029089 1 1 1.0000 condition_record_support_limited 20 0 1 Ophthalmoplegia 4 low_record_burden_interpretation_limited low_record_burden_gene KIF5B human_phenotype_ontology_hp_0002828_medgen_c0158118 Multiple joint contractures Human_Phenotype_Ontology:HP:0002828,MedGen:C0158118 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_joint_contractures 4 low_record_burden_interpretation_limited low_record_burden_gene KIF5B human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Motor delay Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 1.0000 condition_record_support_limited 20 0 1 Motor_delay 4 low_record_burden_interpretation_limited low_record_burden_gene KIF5B human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 4 low_record_burden_interpretation_limited low_record_burden_gene KIF5B human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 4 low_record_burden_interpretation_limited low_record_burden_gene KIF5B human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Hypoplasia of the corpus callosum Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplasia_of_the_corpus_callosum 4 low_record_burden_interpretation_limited low_record_burden_gene KIF5B human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrophic_cardiomyopathy 4 low_record_burden_interpretation_limited low_record_burden_gene KIF5B human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 4 low_record_burden_interpretation_limited low_record_burden_gene KIF5B human_phenotype_ontology_hp_0002016_human_phenotype_ontology_hp_0002022_human_phenotype_ontology_hp_0002568_human_phenotype_ontology_hp_0008872_medgen_c2674608 Feeding difficulties in infancy Human_Phenotype_Ontology:HP:0002016,Human_Phenotype_Ontology:HP:0002022,Human_Phenotype_Ontology:HP:0002568,Human_Phenotype_Ontology:HP:0008872,MedGen:C2674608 1 1 1.0000 condition_record_support_limited 20 0 1 Feeding_difficulties_in_infancy 4 low_record_burden_interpretation_limited low_record_burden_gene KIF5B human_phenotype_ontology_hp_0011968_medgen_c0232466 Feeding difficulties Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466 1 1 1.0000 condition_record_support_limited 20 0 1 Feeding_difficulties 4 low_record_burden_interpretation_limited low_record_burden_gene KIF5B human_phenotype_ontology_hp_0030195_medgen_c4022588 Fatigable weakness of swallowing muscles Human_Phenotype_Ontology:HP:0030195,MedGen:C4022588 1 1 1.0000 condition_record_support_limited 20 0 1 Fatigable_weakness_of_swallowing_muscles 4 low_record_burden_interpretation_limited low_record_burden_gene KIF5B human_phenotype_ontology_hp_0012444_medgen_c4551584 Brain atrophy Human_Phenotype_Ontology:HP:0012444,MedGen:C4551584 1 1 1.0000 condition_record_support_limited 20 0 1 Brain_atrophy 4 low_record_burden_interpretation_limited low_record_burden_gene KIF5B human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Attention deficit hyperactivity disorder Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 1.0000 condition_record_support_limited 20 0 1 Attention_deficit_hyperactivity_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene KIF5A human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Peripheral neuropathy Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 1.0000 condition_record_support_limited 20 0 0 Peripheral_neuropathy 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF5A human_phenotype_ontology_hp_0007108_human_phenotype_ontology_hp_0007205_mondo_mondo_0003334_medgen_c0270922 Demyelinating peripheral neuropathy Human_Phenotype_Ontology:HP:0007108,Human_Phenotype_Ontology:HP:0007205,MONDO:MONDO:0003334,MedGen:C0270922 1 1 1.0000 condition_record_support_limited 20 0 1 Demyelinating_peripheral_neuropathy 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF5A mondo_mondo_0018993_medgen_c0270914_orphanet_64746 Charcot-Marie-Tooth disease type 2 MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746 1 1 1.0000 condition_record_support_limited 20 0 0 Charcot-Marie-Tooth_disease_type_2 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF5A mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 1.0000 condition_record_support_limited 20 0 0 Charcot-Marie-Tooth_disease 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF5A mondo_mondo_0021944_medgen_c1852271_omim_ps609129 Auditory neuropathy MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 1 1 1.0000 condition_record_support_limited 20 0 0 Auditory_neuropathy 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF4A human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Ventriculomegaly Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 1 1 1.0000 condition_record_support_limited 20 0 1 Ventriculomegaly 8 low_record_burden_interpretation_limited low_record_burden_gene KIF4A human_phenotype_ontology_hp_0000003_human_phenotype_ontology_hp_0004715_mondo_mondo_0015988_medgen_c3714581_orphanet_1851 Multicystic kidney dysplasia Human_Phenotype_Ontology:HP:0000003,Human_Phenotype_Ontology:HP:0004715,MONDO:MONDO:0015988,MedGen:C3714581,Orphanet:1851 1 1 1.0000 condition_record_support_limited 20 0 1 Multicystic_kidney_dysplasia 8 low_record_burden_interpretation_limited low_record_burden_gene KIF4A human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Hydrocephalus Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 1.0000 condition_record_support_limited 20 0 1 Hydrocephalus 8 low_record_burden_interpretation_limited low_record_burden_gene KIF4A human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Corpus callosum, agenesis of Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 1.0000 condition_record_support_limited 20 0 1 Corpus_callosum,_agenesis_of 8 low_record_burden_interpretation_limited low_record_burden_gene KIF4A mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cerebellar_hypoplasia 8 low_record_burden_interpretation_limited low_record_burden_gene KIF2A human_phenotype_ontology_hp_0002060_medgen_c4021762 Abnormal cerebral morphology Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_cerebral_morphology 7 low_record_burden_interpretation_limited low_record_burden_gene KIF26B condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene KIF24 mondo_mondo_0013127_medgen_c0036069_omim_613091_orphanet_474_orphanet_93269_orphanet_93270_orphanet_93271 Asphyxiating thoracic dystrophy 3 MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271 1 1 1.0000 condition_record_support_limited 20 0 0 Asphyxiating_thoracic_dystrophy_3 1 low_record_burden_interpretation_limited low_record_burden_gene KIF23 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene KIF23 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 0 Microcephaly 4 low_record_burden_interpretation_limited low_record_burden_gene KIF21A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 15 low_record_burden_interpretation_limited low_record_burden_gene KIF21A human_phenotype_ontology_hp_0000496_human_phenotype_ontology_hp_0006860_medgen_c0497202 Abnormality of eye movement Human_Phenotype_Ontology:HP:0000496,Human_Phenotype_Ontology:HP:0006860,MedGen:C0497202 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_eye_movement 15 low_record_burden_interpretation_limited low_record_burden_gene KIF1C human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF1C human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF1C mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF1C mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF1C human_phenotype_ontology_hp_0011442_medgen_c4023354 Abnormal central motor function Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_central_motor_function 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF1A mondo_mondo_0000508_medgen_c5680525_orphanet_183763 Syndromic intellectual disability MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 1.0000 condition_record_support_limited 20 0 1 Syndromic_intellectual_disability 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIF1A human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIF1A human_phenotype_ontology_hp_0002395_human_phenotype_ontology_hp_0007245_human_phenotype_ontology_hp_0007288_medgen_c1836696 Lower limb hyperreflexia Human_Phenotype_Ontology:HP:0002395,Human_Phenotype_Ontology:HP:0007245,Human_Phenotype_Ontology:HP:0007288,MedGen:C1836696 1 1 1.0000 condition_record_support_limited 20 0 1 Lower_limb_hyperreflexia 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIF1A human_phenotype_ontology_hp_0001282_human_phenotype_ontology_hp_0001347_human_phenotype_ontology_hp_0006820_human_phenotype_ontology_hp_0007184_human_phenotype_ontology_hp_0007318_mondo_mondo_0007774_medgen_c0151889_omim_145290 Hyperreflexia Human_Phenotype_Ontology:HP:0001282,Human_Phenotype_Ontology:HP:0001347,Human_Phenotype_Ontology:HP:0006820,Human_Phenotype_Ontology:HP:0007184,Human_Phenotype_Ontology:HP:0007318,MONDO:MONDO:0007774,MedGen:C0151889,OMIM:145290 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperreflexia 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIF1A human_phenotype_ontology_hp_0002169_medgen_c0009024 Clonus Human_Phenotype_Ontology:HP:0002169,MedGen:C0009024 1 1 1.0000 condition_record_support_limited 20 0 1 Clonus 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIF1A mondo_mondo_0015802_medgen_c5680502_orphanet_178469 Autosomal dominant non-syndromic intellectual disability MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_non-syndromic_intellectual_disability 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIF19 human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 1.0000 condition_record_support_limited 20 0 0 Non-immune_hydrops_fetalis 1 low_record_burden_interpretation_limited low_record_burden_gene KIF14 kif14_related_disorder KIF14-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 KIF14-related_disorder 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF11 medgen_c5680332_orphanet_98661 Syndromic retinitis pigmentosa MedGen:C5680332,Orphanet:98661 1 1 1.0000 condition_record_support_limited 20 0 1 Syndromic_retinitis_pigmentosa 180 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF11 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 180 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF11 human_phenotype_ontology_hp_0007973_human_phenotype_ontology_hp_0008022_medgen_c0035313 Retinal dysplasia Human_Phenotype_Ontology:HP:0007973,Human_Phenotype_Ontology:HP:0008022,MedGen:C0035313 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dysplasia 180 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF11 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 180 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF11 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 180 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF11 microcephaly_with_or_without_chorioretinopathy_lymphedema_or_intellectual_disability_mclid Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) . 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly_with_or_without_chorioretinopathy,_lymphedema_or_intellectual_disability_(MCLID) 180 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF11 mondo_mondo_0009624_medgen_c3278481_omim_251270 Microcephaly and chorioretinopathy 1 MONDO:MONDO:0009624,MedGen:C3278481,OMIM:251270 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly_and_chorioretinopathy_1 180 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIF11 human_phenotype_ontology_hp_0001004_human_phenotype_ontology_hp_0003605_mondo_mondo_0019297_medgen_c0024236 Lymphedema Human_Phenotype_Ontology:HP:0001004,Human_Phenotype_Ontology:HP:0003605,MONDO:MONDO:0019297,MedGen:C0024236 1 1 1.0000 condition_record_support_limited 20 0 1 Lymphedema 180 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIDINS220 kcna1_related_disorder KCNA1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 KCNA1-related_disorder 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIDINS220 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIDINS220 human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_palsy 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KIAA1549 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 8 low_record_burden_interpretation_limited low_record_burden_gene KIAA1549 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 8 low_record_burden_interpretation_limited low_record_burden_gene KIAA0825 mondo_mondo_0008266_medgen_c4282400_omim_174200 Polydactyly, postaxial, type A1 MONDO:MONDO:0008266,MedGen:C4282400,OMIM:174200 1 1 1.0000 condition_record_support_limited 20 0 1 Polydactyly,_postaxial,_type_A1 8 low_record_burden_interpretation_limited low_record_burden_gene KIAA0825 autosomal_recessive_nonsyndromic_postaxial_polydactyly Autosomal recessive nonsyndromic postaxial polydactyly . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_nonsyndromic_postaxial_polydactyly 8 low_record_burden_interpretation_limited low_record_burden_gene KIAA0753 kiaa0753_related_disorder KIAA0753-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 KIAA0753-related_disorder 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIAA0586 speech_and_developmental_delay Speech and developmental delay . 1 1 1.0000 condition_record_support_limited 20 0 1 Speech_and_developmental_delay 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIAA0586 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_ciliary_dyskinesia 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIAA0586 mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 Meckel-Gruber syndrome MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 1 1 1.0000 condition_record_support_limited 20 0 0 Meckel-Gruber_syndrome 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIAA0586 mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 Jeune thoracic dystrophy MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 1 1 1.0000 condition_record_support_limited 20 0 0 Jeune_thoracic_dystrophy 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KIAA0586 mondo_mondo_0005308_medgen_c4277690_orphanet_363250 Ciliopathy MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 1 1 1.0000 condition_record_support_limited 20 0 1 Ciliopathy 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KHK mondo_mondo_0009252_medgen_c0268160_omim_229800_orphanet_2056 Essential fructosuria MONDO:MONDO:0009252,MedGen:C0268160,OMIM:229800,Orphanet:2056 1 1 1.0000 condition_record_support_limited 20 0 0 Essential_fructosuria 1 low_record_burden_interpretation_limited low_record_burden_gene KHDRBS1 mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 1 low_record_burden_interpretation_limited low_record_burden_gene KHDC3L khdc3l_related_condition KHDC3L-related condition . 1 1 1.0000 condition_record_support_limited 20 0 1 KHDC3L-related_condition 4 low_record_burden_interpretation_limited low_record_burden_gene KERA kera_related_disorder KERA-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 KERA-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene KEL medgen_c0022546_omim_110900 Kell blood group system MedGen:C0022546,OMIM:110900 1 1 1.0000 condition_record_support_limited 20 0 0 Kell_blood_group_system 2 low_record_burden_interpretation_limited low_record_burden_gene KEL kell_null_phenotype KELL-NULL PHENOTYPE . 1 1 1.0000 condition_record_support_limited 20 0 0 KELL-NULL_PHENOTYPE 2 low_record_burden_interpretation_limited low_record_burden_gene KDR human_phenotype_ontology_hp_0001636_mondo_mondo_0008542_medgen_c0039685_omim_187500_orphanet_3303 Tetralogy of Fallot Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303 1 1 1.0000 condition_record_support_limited 20 0 0 Tetralogy_of_Fallot 3 low_record_burden_interpretation_limited low_record_burden_gene KDR mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 1 Premature_ovarian_failure 3 low_record_burden_interpretation_limited low_record_burden_gene KDR mondo_mondo_0011191_medgen_c1865871_omim_602089 Capillary infantile hemangioma MONDO:MONDO:0011191,MedGen:C1865871,OMIM:602089 1 1 1.0000 condition_record_support_limited 20 0 1 Capillary_infantile_hemangioma 3 low_record_burden_interpretation_limited low_record_burden_gene KDM6B human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM6B human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM6B kdm6b_related_neurodevelopmental_disorder KDM6B-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 KDM6B-related_neurodevelopmental_disorder 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM6B human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM6A mondo_mondo_0030027_medgen_c5394329_omim_618866 Tremor, hereditary essential, 6 MONDO:MONDO:0030027,MedGen:C5394329,OMIM:618866 1 1 1.0000 condition_record_support_limited 20 0 0 Tremor,_hereditary_essential,_6 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM6A mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM6A human_phenotype_ontology_hp_0001903_human_phenotype_ontology_hp_0001926_human_phenotype_ontology_hp_0003136_human_phenotype_ontology_hp_0005509_mondo_mondo_0002280_medgen_c0002871 Anemia Human_Phenotype_Ontology:HP:0001903,Human_Phenotype_Ontology:HP:0001926,Human_Phenotype_Ontology:HP:0003136,Human_Phenotype_Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871 1 1 1.0000 condition_record_support_limited 20 0 1 Anemia 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM5C medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_intellectual_disability 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM5C human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM5C mondo_mondo_0016512_medgen_c0796004_omim_ps147920_orphanet_2322 Kabuki syndrome MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322 1 1 1.0000 condition_record_support_limited 20 0 0 Kabuki_syndrome 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM5C human_phenotype_ontology_hp_0001007_medgen_c0019572 Hirsutism Human_Phenotype_Ontology:HP:0001007,MedGen:C0019572 1 1 1.0000 condition_record_support_limited 20 0 1 Hirsutism 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM5C medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_disorder 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM5B human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM4B mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM4B human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KDM3B medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_intellectual_disability 41 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KDM3B medgen_c5680564_orphanet_183512 Rare genetic epilepsy MedGen:C5680564,Orphanet:183512 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_epilepsy 41 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KDM3B mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 41 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KDM3B mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 41 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KDM2B kdm2b_related_syndrome KDM2B-related syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 KDM2B-related_syndrome 19 low_record_burden_interpretation_limited low_record_burden_gene KDM2B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 19 low_record_burden_interpretation_limited low_record_burden_gene KDM2A kdm2a_related_condition KDM2A related condition . 1 1 1.0000 condition_record_support_limited 20 0 1 KDM2A_related_condition 16 low_record_burden_interpretation_limited low_record_burden_gene KDM1A human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 16 low_record_burden_interpretation_limited low_record_burden_gene KDM1A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 16 low_record_burden_interpretation_limited low_record_burden_gene KDF1 human_phenotype_ontology_hp_0000668_mondo_mondo_0005486_medgen_c0020608_omim_ps106600_orphanet_99798 Hypodontia Human_Phenotype_Ontology:HP:0000668,MONDO:MONDO:0005486,MedGen:C0020608,OMIM:PS106600,Orphanet:99798 1 1 1.0000 condition_record_support_limited 20 0 0 Hypodontia 4 low_record_burden_interpretation_limited low_record_burden_gene KDF1 mondo_mondo_0015024_medgen_c4310616_omim_617337 Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type MONDO:MONDO:0015024,MedGen:C4310616,OMIM:617337 1 1 1.0000 condition_record_support_limited 20 0 0 Ectodermal_dysplasia_12,_hypohidrotic/hair/tooth/nail_type 4 low_record_burden_interpretation_limited low_record_burden_gene KCTD7 mondo_mondo_0020074_medgen_c0751778_omim_ps254800_orphanet_308_orphanet_98261 Progressive myoclonic epilepsy MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_myoclonic_epilepsy 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCTD7 kctd7_related_disorder KCTD7-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 KCTD7-related_disorder 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCTD7 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCTD7 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 0 Epileptic_encephalopathy 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCTD7 medgen_c4017260 Epilepsy, progressive myoclonic, 3, with intracellular inclusions MedGen:C4017260 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy,_progressive_myoclonic,_3,_with_intracellular_inclusions 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCTD3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 1 low_record_burden_interpretation_limited low_record_burden_gene KCTD19 cerebral_visual_impairment_and_intellectual_disability Cerebral visual impairment and intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_visual_impairment_and_intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene KCTD17 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene KCNV2 mondo_mondo_0019353_medgen_c0271093_orphanet_827 Stargardt disease MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827 1 1 1.0000 condition_record_support_limited 20 0 1 Stargardt_disease 80 compact_adjacent_exon_block_opportunity local_compact_architecture KCNV2 medgen_c0271092 Progressive cone dystrophy (without rod involvement) MedGen:C0271092 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_cone_dystrophy_(without_rod_involvement) 80 compact_adjacent_exon_block_opportunity local_compact_architecture KCNV2 human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 1.0000 condition_record_support_limited 20 0 1 Nystagmus 80 compact_adjacent_exon_block_opportunity local_compact_architecture KCNV2 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 80 compact_adjacent_exon_block_opportunity local_compact_architecture KCNT1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNT1 kcnt1_related_channelopathy KCNT1-related channelopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 KCNT1-related_channelopathy 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNT1 mondo_mondo_0015650_medgen_c4505072_orphanet_166463 Epilepsy syndrome MONDO:MONDO:0015650,MedGen:C4505072,Orphanet:166463 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy_syndrome 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNT1 mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNT1 mondo_mondo_0014003_medgen_c3554316_omim_615006_orphanet_3451 Developmental and epileptic encephalopathy, 15 MONDO:MONDO:0014003,MedGen:C3554316,OMIM:615006,Orphanet:3451 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_15 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNT1 mondo_mondo_0020072_medgen_c5681526_orphanet_98259 Childhood-onset epilepsy syndrome MONDO:MONDO:0020072,MedGen:C5681526,Orphanet:98259 1 1 1.0000 condition_record_support_limited 20 0 1 Childhood-onset_epilepsy_syndrome 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNT1 mondo_mondo_0010899_medgen_c1838049_omim_600513_orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy 1 MONDO:MONDO:0010899,MedGen:C1838049,OMIM:600513,Orphanet:98784 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_1 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ5 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ4 kcnq4_related_disorder KCNQ4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 KCNQ4-related_disorder 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ4 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 0 Hearing_impairment 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ4 human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Bilateral sensorineural hearing impairment Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_sensorineural_hearing_impairment 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ3 severe_neurodevelopmental_delay Severe neurodevelopmental delay . 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_neurodevelopmental_delay 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ3 human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ3 mondo_mondo_0007295_medgen_c0376532_orphanet_1945 Self-limited epilepsy with centrotemporal spikes MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 1 1 1.0000 condition_record_support_limited 20 0 1 Self-limited_epilepsy_with_centrotemporal_spikes 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ3 mondo_mondo_0014903_medgen_c4310728_omim_617080_orphanet_306 Seizures, benign familial infantile, 5 MONDO:MONDO:0014903,MedGen:C4310728,OMIM:617080,Orphanet:306 1 1 1.0000 condition_record_support_limited 20 0 1 Seizures,_benign_familial_infantile,_5 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ3 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ3 mondo_mondo_0016532_medgen_c0238111_orphanet_2382 Lennox-Gastaut syndrome MONDO:MONDO:0016532,MedGen:C0238111,Orphanet:2382 1 1 1.0000 condition_record_support_limited 20 0 1 Lennox-Gastaut_syndrome 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ3 kcnq3_related_developmental_disability KCNQ3-related developmental disability MedGen:CN868255 1 1 1.0000 condition_record_support_limited 20 0 1 KCNQ3-related_developmental_disability 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ3 kcnq3_related_autism_and_developmental_disability KCNQ3-related Autism and developmental disability . 1 1 1.0000 condition_record_support_limited 20 0 1 KCNQ3-related_Autism_and_developmental_disability 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 mondo_mondo_0018097_medgen_c0037769_orphanet_3451_orphanet_697160 West syndrome MONDO:MONDO:0018097,MedGen:C0037769,Orphanet:3451,Orphanet:697160 1 1 1.0000 condition_record_support_limited 20 0 1 West_syndrome 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 severe_intellectual_deficiency Severe intellectual deficiency . 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_deficiency 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 mondo_mondo_0100022_medgen_cn378700_orphanet_693802 Neonatal/infantile epilepsy syndrome MONDO:MONDO:0100022,MedGen:CN378700,Orphanet:693802 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal/infantile_epilepsy_syndrome 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Moderate intellectual disability Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 1 1 1.0000 condition_record_support_limited 20 0 1 Moderate_intellectual_disability 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 human_phenotype_ontology_hp_0002451_medgen_c0751093 Limb dystonia Human_Phenotype_Ontology:HP:0002451,MedGen:C0751093 1 1 1.0000 condition_record_support_limited 20 0 1 Limb_dystonia 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 epilepsy_benign_neonatal_1_and_or_myokymia Epilepsy, benign neonatal, 1, and/or myokymia . 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy,_benign_neonatal,_1,_and/or_myokymia 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 human_phenotype_ontology_hp_0000286_human_phenotype_ontology_hp_0000624_human_phenotype_ontology_hp_0007930_medgen_c0678230_omim_131500 Epicanthus Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500 1 1 1.0000 condition_record_support_limited 20 0 1 Epicanthus 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 medgen_c2363129_omim_117100_orphanet_1945 Benign Rolandic epilepsy MedGen:C2363129,OMIM:117100,Orphanet:1945 1 1 1.0000 condition_record_support_limited 20 0 1 Benign_Rolandic_epilepsy 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 mondo_mondo_0014011_medgen_c3554355_omim_615024_orphanet_79394 Autosomal recessive congenital ichthyosis 10 MONDO:MONDO:0014011,MedGen:C3554355,OMIM:615024,Orphanet:79394 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_congenital_ichthyosis_10 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 autosomal_dominant_epilepsy Autosomal dominant epilepsy . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_epilepsy 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 human_phenotype_ontology_hp_0000729_medgen_c0856975 Autistic behavior Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 1.0000 condition_record_support_limited 20 0 1 Autistic_behavior 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Absent speech Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 1.0000 condition_record_support_limited 20 0 1 Absent_speech 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ2 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 745 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1OT1 mondo_mondo_0020796_medgen_c5393125_omim_180860_orphanet_813 Silver-Russell syndrome 1 MONDO:MONDO:0020796,MedGen:C5393125,OMIM:180860,Orphanet:813 1 1 1.0000 condition_record_support_limited 20 0 0 Silver-Russell_syndrome_1 19 low_record_burden_interpretation_limited low_record_burden_gene KCNQ1OT1 mondo_mondo_0012313_medgen_c1865019_omim_609621_orphanet_51083 Short QT syndrome type 2 MONDO:MONDO:0012313,MedGen:C1865019,OMIM:609621,Orphanet:51083 1 1 1.0000 condition_record_support_limited 20 0 1 Short_QT_syndrome_type_2 19 low_record_burden_interpretation_limited low_record_burden_gene KCNQ1OT1 kcnq1_related_epilepsy KCNQ1-related epilepsy . 1 1 1.0000 condition_record_support_limited 20 0 1 KCNQ1-related_epilepsy 19 low_record_burden_interpretation_limited low_record_burden_gene KCNQ1OT1 mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 Congenital long QT syndrome MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_long_QT_syndrome 19 low_record_burden_interpretation_limited low_record_burden_gene KCNQ1 human_phenotype_ontology_hp_0001716_mondo_mondo_0008685_medgen_c0043202_omim_194200 Wolff-Parkinson-White pattern Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200 1 1 1.0000 condition_record_support_limited 20 0 1 Wolff-Parkinson-White_pattern 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 mondo_mondo_0020796_medgen_c5393125_omim_180860_orphanet_813 Silver-Russell syndrome 1 MONDO:MONDO:0020796,MedGen:C5393125,OMIM:180860,Orphanet:813 1 1 1.0000 condition_record_support_limited 20 0 0 Silver-Russell_syndrome_1 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 mondo_mondo_0012312_medgen_c1865020_omim_609620_orphanet_51083 Short QT syndrome type 1 MONDO:MONDO:0012312,MedGen:C1865020,OMIM:609620,Orphanet:51083 1 1 1.0000 condition_record_support_limited 20 0 1 Short_QT_syndrome_type_1 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 human_phenotype_ontology_hp_0200067_medgen_c3279439 Recurrent spontaneous abortion Human_Phenotype_Ontology:HP:0200067,MedGen:C3279439 1 1 1.0000 condition_record_support_limited 20 0 1 Recurrent_spontaneous_abortion 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 human_phenotype_ontology_hp_0001657_medgen_c0151878 Prolonged QT interval Human_Phenotype_Ontology:HP:0001657,MedGen:C0151878 1 1 1.0000 condition_record_support_limited 20 0 1 Prolonged_QT_interval 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 mondo_mondo_0013367_medgen_c3150943_omim_613688_orphanet_101016_orphanet_768 Long QT syndrome 2 MONDO:MONDO:0013367,MedGen:C3150943,OMIM:613688,Orphanet:101016,Orphanet:768 1 1 1.0000 condition_record_support_limited 20 0 1 Long_QT_syndrome_2 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 kcq1_related_disorders KCQ1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 KCQ1-related_disorders 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 kcnq1_related_epilepsy KCNQ1-related epilepsy . 1 1 1.0000 condition_record_support_limited 20 0 1 KCNQ1-related_epilepsy 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 medgen_c1135954 Incidental Discovery MedGen:C1135954 1 1 1.0000 condition_record_support_limited 20 0 1 Incidental_Discovery 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 1.0000 condition_record_support_limited 20 0 1 Ear_malformation 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNQ1 human_phenotype_ontology_hp_0001626_medgen_c0243050 Abnormality of the cardiovascular system Human_Phenotype_Ontology:HP:0001626,MedGen:C0243050 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_cardiovascular_system 536 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNN4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene KCNN4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 4 low_record_burden_interpretation_limited low_record_burden_gene KCNN4 mondo_mondo_0008689_medgen_c4551512_omim_194380_orphanet_3202 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema MONDO:MONDO:0008689,MedGen:C4551512,OMIM:194380,Orphanet:3202 1 1 1.0000 condition_record_support_limited 20 0 0 Dehydrated_hereditary_stomatocytosis_with_or_without_pseudohyperkalemia_and/or_perinatal_edema 4 low_record_burden_interpretation_limited low_record_burden_gene KCNN3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene KCNN3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 6 low_record_burden_interpretation_limited low_record_burden_gene KCNN2 human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 19 low_record_burden_interpretation_limited low_record_burden_gene KCNN2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene KCNN2 kcnn2_related_disorder KCNN2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 KCNN2-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene KCNN2 human_phenotype_ontology_hp_0100660_medgen_c0013384 Dyskinesia Human_Phenotype_Ontology:HP:0100660,MedGen:C0013384 1 1 1.0000 condition_record_support_limited 20 0 1 Dyskinesia 19 low_record_burden_interpretation_limited low_record_burden_gene KCNMA1 autosomal_dominant_kcnma1_related_disorders Autosomal dominant KCNMA1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_KCNMA1-related_disorders 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNMA1 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNK9 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 7 low_record_burden_interpretation_limited low_record_burden_gene KCNK3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene KCNK3 mondo_mondo_0024533_medgen_c4552070_omim_178600_orphanet_422 Pulmonary hypertension, primary, 1 MONDO:MONDO:0024533,MedGen:C4552070,OMIM:178600,Orphanet:422 1 1 1.0000 condition_record_support_limited 20 0 1 Pulmonary_hypertension,_primary,_1 9 low_record_burden_interpretation_limited low_record_burden_gene KCNK3 human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Pulmonary arterial hypertension Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 1 1 1.0000 condition_record_support_limited 20 0 0 Pulmonary_arterial_hypertension 9 low_record_burden_interpretation_limited low_record_burden_gene KCNK18 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene KCNK18 mondo_mondo_0013344_medgen_c4225479_omim_613656 Migraine, with or without aura, susceptibility to, 13 MONDO:MONDO:0013344,MedGen:C4225479,OMIM:613656 1 1 1.0000 condition_record_support_limited 20 0 0 Migraine,_with_or_without_aura,_susceptibility_to,_13 3 low_record_burden_interpretation_limited low_record_burden_gene KCNK18 kcnk18_related_neurodevelopmental_disorder KCNK18-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 KCNK18-related_neurodevelopmental_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene KCNK17 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene KCNJ8 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene KCNJ8 mondo_mondo_0009406_medgen_c0795905_omim_239850_orphanet_1517 Hypertrichotic osteochondrodysplasia Cantu type MONDO:MONDO:0009406,MedGen:C0795905,OMIM:239850,Orphanet:1517 1 1 1.0000 condition_record_support_limited 20 0 0 Hypertrichotic_osteochondrodysplasia_Cantu_type 2 low_record_burden_interpretation_limited low_record_burden_gene KCNJ6 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 1 See_cases 3 low_record_burden_interpretation_limited low_record_burden_gene KCNJ5 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 8 low_record_burden_interpretation_limited low_record_burden_gene KCNJ5 mondo_mondo_0008222_medgen_c1563715_omim_170390_orphanet_37553 Andersen Tawil syndrome MONDO:MONDO:0008222,MedGen:C1563715,OMIM:170390,Orphanet:37553 1 1 1.0000 condition_record_support_limited 20 0 1 Andersen_Tawil_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene KCNJ2 efo_the_experimental_factor_ontology_efo_0005306_human_phenotype_ontology_hp_0004756_mondo_mondo_0005477_medgen_c0042514 Ventricular tachycardia EFO:_The_Experimental_Factor_Ontology:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514 1 1 1.0000 condition_record_support_limited 20 0 1 Ventricular_tachycardia 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ2 human_phenotype_ontology_hp_0004755_medgen_c0039240 Supraventricular tachycardia Human_Phenotype_Ontology:HP:0004755,MedGen:C0039240 1 1 1.0000 condition_record_support_limited 20 0 1 Supraventricular_tachycardia 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ2 mondo_mondo_0012312_medgen_c1865020_omim_609620_orphanet_51083 Short QT syndrome type 1 MONDO:MONDO:0012312,MedGen:C1865020,OMIM:609620,Orphanet:51083 1 1 1.0000 condition_record_support_limited 20 0 1 Short_QT_syndrome_type_1 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ2 mondo_mondo_0000453_medgen_c2348199_omim_ps609620_orphanet_51083 Short QT syndrome MONDO:MONDO:0000453,MedGen:C2348199,OMIM:PS609620,Orphanet:51083 1 1 1.0000 condition_record_support_limited 20 0 1 Short_QT_syndrome 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ2 kcnj2_related_disorder KCNJ2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 KCNJ2-related_disorder 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ2 mondo_mondo_0000995_medgen_c0030443_orphanet_371433 Familial periodic paralysis MONDO:MONDO:0000995,MedGen:C0030443,Orphanet:371433 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_periodic_paralysis 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ2 mondo_mondo_0012066_medgen_c1843687_omim_608583 Atrial fibrillation, familial, 1 MONDO:MONDO:0012066,MedGen:C1843687,OMIM:608583 1 1 1.0000 condition_record_support_limited 20 0 1 Atrial_fibrillation,_familial,_1 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ16 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene KCNJ13 human_phenotype_ontology_hp_0011533_mondo_mondo_0008663_medgen_c1860405_omim_193230_orphanet_91496 Snowflake vitreoretinal degeneration Human_Phenotype_Ontology:HP:0011533,MONDO:MONDO:0008663,MedGen:C1860405,OMIM:193230,Orphanet:91496 1 1 1.0000 condition_record_support_limited 20 0 1 Snowflake_vitreoretinal_degeneration 11 low_record_burden_interpretation_limited low_record_burden_gene KCNJ13 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 11 low_record_burden_interpretation_limited low_record_burden_gene KCNJ13 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 1 Leber_congenital_amaurosis 11 low_record_burden_interpretation_limited low_record_burden_gene KCNJ11 mondo_mondo_0015967_medgen_c3888631_orphanet_183625 Monogenic diabetes MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_diabetes 72 single_exon_hotspot_opportunity local_compact_architecture KCNJ11 human_phenotype_ontology_hp_0001943_human_phenotype_ontology_hp_0003356_mondo_mondo_0004946_medgen_c0020615 Hypoglycemia Human_Phenotype_Ontology:HP:0001943,Human_Phenotype_Ontology:HP:0003356,MONDO:MONDO:0004946,MedGen:C0020615 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoglycemia 72 single_exon_hotspot_opportunity local_compact_architecture KCNJ11 human_phenotype_ontology_hp_0000998_mondo_mondo_0019280_medgen_c0020555_orphanet_79365 Hypertrichosis Human_Phenotype_Ontology:HP:0000998,MONDO:MONDO:0019280,MedGen:C0020555,Orphanet:79365 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrichosis 72 single_exon_hotspot_opportunity local_compact_architecture KCNJ11 medgen_c1320657 Diabetes MedGen:C1320657 1 1 1.0000 condition_record_support_limited 20 0 1 Diabetes 72 single_exon_hotspot_opportunity local_compact_architecture KCNJ11 human_phenotype_ontology_hp_0001047_human_phenotype_ontology_hp_0007533_human_phenotype_ontology_hp_0007564_mondo_mondo_0004980_medgen_c0011615_omim_ps603165 Atopic eczema Human_Phenotype_Ontology:HP:0001047,Human_Phenotype_Ontology:HP:0007533,Human_Phenotype_Ontology:HP:0007564,MONDO:MONDO:0004980,MedGen:C0011615,OMIM:PS603165 1 1 1.0000 condition_record_support_limited 20 0 1 Atopic_eczema 72 single_exon_hotspot_opportunity local_compact_architecture KCNJ10 human_phenotype_ontology_hp_0001264_medgen_c0023882 Spastic diplegia Human_Phenotype_Ontology:HP:0001264,MedGen:C0023882 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_diplegia 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ10 human_phenotype_ontology_hp_0000124_mondo_mondo_0021568_medgen_c0151747_orphanet_93603 Renal tubular dysfunction Human_Phenotype_Ontology:HP:0000124,MONDO:MONDO:0021568,MedGen:C0151747,Orphanet:93603 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_tubular_dysfunction 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ10 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ10 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ10 human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Bilateral sensorineural hearing impairment Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_sensorineural_hearing_impairment 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ10 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ1 renal_tubulopathies Renal tubulopathies . 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_tubulopathies 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNJ1 kcnj1_related_disorder KCNJ1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 KCNJ1-related_disorder 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNIP1 mondo_mondo_0005579_medgen_c0270850_omim_600669_omim_ps600669 Idiopathic generalized epilepsy MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669 1 1 1.0000 condition_record_support_limited 20 0 0 Idiopathic_generalized_epilepsy 1 low_record_burden_interpretation_limited low_record_burden_gene KCNH8 mondo_mondo_0009699_mesh_d020191_medgen_c0751779_omim_254900_orphanet_163696 Action myoclonus-renal failure syndrome MONDO:MONDO:0009699,MeSH:D020191,MedGen:C0751779,OMIM:254900,Orphanet:163696 1 1 1.0000 condition_record_support_limited 20 0 0 Action_myoclonus-renal_failure_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene KCNH5 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene KCNH5 mondo_mondo_0032736_medgen_c5193083_omim_618416 Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression MONDO:MONDO:0032736,MedGen:C5193083,OMIM:618416 1 1 1.0000 condition_record_support_limited 20 0 0 Metabolic_crises,_recurrent,_with_variable_encephalomyopathic_features_and_neurologic_regression 11 low_record_burden_interpretation_limited low_record_burden_gene KCNH2 mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 Primary familial hypertrophic cardiomyopathy MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_familial_hypertrophic_cardiomyopathy 720 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNH2 human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 1.0000 condition_record_support_limited 20 0 1 Obesity 720 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNH2 medgen_c4016248 Long QT syndrome, bradycardia-induced MedGen:C4016248 1 1 1.0000 condition_record_support_limited 20 0 1 Long_QT_syndrome,_bradycardia-induced 720 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNH2 mondo_mondo_0100316_medgen_c4551647_omim_192500_orphanet_101016_orphanet_768 Long QT syndrome 1 MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768 1 1 1.0000 condition_record_support_limited 20 0 1 Long_QT_syndrome_1 720 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNH2 mondo_mondo_0014883_medgen_c4310749_omim_617047_orphanet_75249 Hypertrophic cardiomyopathy 26 MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249 1 1 1.0000 condition_record_support_limited 20 0 0 Hypertrophic_cardiomyopathy_26 720 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNH2 mondo_mondo_0014493_medgen_c4015214_omim_616100_orphanet_436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:MONDO:0014493,MedGen:C4015214,OMIM:616100,Orphanet:436159 1 1 1.0000 condition_record_support_limited 20 0 1 Autoimmune_lymphoproliferative_syndrome_due_to_CTLA4_haploinsufficiency 720 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNH1 human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNH1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNH1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNH1 kcnh1_related_phenotype KCNH1-related phenotype . 1 1 1.0000 condition_record_support_limited 20 0 0 KCNH1-related_phenotype 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNH1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNH1 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNF1 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 1 low_record_burden_interpretation_limited low_record_burden_gene KCNE2 medgen_c3276241 Long QT syndrome 3/6, digenic MedGen:C3276241 1 1 1.0000 condition_record_support_limited 20 0 1 Long_QT_syndrome_3/6,_digenic 1 low_record_burden_interpretation_limited low_record_burden_gene KCNE2 mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 Congenital long QT syndrome MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_long_QT_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene KCNE1 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorineural_hearing_loss_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNE1 mondo_mondo_0024540_medgen_c4551509_omim_220400_orphanet_768_orphanet_90647 Jervell and Lange-Nielsen syndrome 1 MONDO:MONDO:0024540,MedGen:C4551509,OMIM:220400,Orphanet:768,Orphanet:90647 1 1 1.0000 condition_record_support_limited 20 0 0 Jervell_and_Lange-Nielsen_syndrome_1 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNE1 medgen_c0236038 Hereditary hearing loss and deafness MedGen:C0236038 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_hearing_loss_and_deafness 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCND3 medgen_c2986382 Variant of unknown significance MedGen:C2986382 1 1 1.0000 condition_record_support_limited 20 0 1 Variant_of_unknown_significance 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCND3 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCND3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCND3 mondo_mondo_0100309_medgen_c0004138_orphanet_183518 Hereditary ataxia MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_ataxia 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCND3 mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 0 Epilepsy 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCND3 mondo_mondo_0014621_medgen_c4225340_omim_616399_orphanet_130 Brugada syndrome 9 MONDO:MONDO:0014621,MedGen:C4225340,OMIM:616399,Orphanet:130 1 1 1.0000 condition_record_support_limited 20 0 1 Brugada_syndrome_9 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCND2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene KCNC3 human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 1.0000 condition_record_support_limited 20 0 0 Tip-toe_gait 11 low_record_burden_interpretation_limited low_record_burden_gene KCNC3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene KCNC3 mondo_mondo_0100309_medgen_c0004138_orphanet_183518 Hereditary ataxia MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_ataxia 11 low_record_burden_interpretation_limited low_record_burden_gene KCNC2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 17 low_record_burden_interpretation_limited low_record_burden_gene KCNC2 mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy 17 low_record_burden_interpretation_limited low_record_burden_gene KCNC1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 16 low_record_burden_interpretation_limited low_record_burden_gene KCNC1 mondo_mondo_0020074_medgen_c0751778_omim_ps254800_orphanet_308_orphanet_98261 Progressive myoclonic epilepsy MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_myoclonic_epilepsy 16 low_record_burden_interpretation_limited low_record_burden_gene KCNC1 kcnc1_related_disorder KCNC1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 KCNC1-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene KCNC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 16 low_record_burden_interpretation_limited low_record_burden_gene KCNB2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene KCNB1 human_phenotype_ontology_hp_0011150_medgen_c4023512 Myoclonic absence seizure Human_Phenotype_Ontology:HP:0011150,MedGen:C4023512 1 1 1.0000 condition_record_support_limited 20 0 1 Myoclonic_absence_seizure 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNB1 marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 1 1 1.0000 condition_record_support_limited 20 0 1 Marfanoid_habitus_and_intellectual_disability 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNB1 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNB1 mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNB1 human_phenotype_ontology_hp_0002355_human_phenotype_ontology_hp_0007101_human_phenotype_ontology_hp_0009030_medgen_c0311394 Difficulty walking Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394 1 1 1.0000 condition_record_support_limited 20 0 1 Difficulty_walking 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNB1 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNA6 human_phenotype_ontology_hp_0000322_human_phenotype_ontology_hp_0200090_medgen_c1861324 Short philtrum Human_Phenotype_Ontology:HP:0000322,Human_Phenotype_Ontology:HP:0200090,MedGen:C1861324 1 1 1.0000 condition_record_support_limited 20 0 1 Short_philtrum 3 low_record_burden_interpretation_limited low_record_burden_gene KCNA6 human_phenotype_ontology_hp_0001763_mondo_mondo_0005293_medgen_c0016202 Pes planus Human_Phenotype_Ontology:HP:0001763,MONDO:MONDO:0005293,MedGen:C0016202 1 1 1.0000 condition_record_support_limited 20 0 1 Pes_planus 3 low_record_burden_interpretation_limited low_record_burden_gene KCNA6 human_phenotype_ontology_hp_0011343_medgen_c2237142 Moderate global developmental delay Human_Phenotype_Ontology:HP:0011343,MedGen:C2237142 1 1 1.0000 condition_record_support_limited 20 0 1 Moderate_global_developmental_delay 3 low_record_burden_interpretation_limited low_record_burden_gene KCNA6 human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 3 low_record_burden_interpretation_limited low_record_burden_gene KCNA6 human_phenotype_ontology_hp_0003186_mondo_mondo_0008100_medgen_c0269269_omim_163600 Inversion of nipple Human_Phenotype_Ontology:HP:0003186,MONDO:MONDO:0008100,MedGen:C0269269,OMIM:163600 1 1 1.0000 condition_record_support_limited 20 0 1 Inversion_of_nipple 3 low_record_burden_interpretation_limited low_record_burden_gene KCNA6 human_phenotype_ontology_hp_0000540_mondo_mondo_0004891_medgen_c0020490 Hypermetropia Human_Phenotype_Ontology:HP:0000540,MONDO:MONDO:0004891,MedGen:C0020490 1 1 1.0000 condition_record_support_limited 20 0 1 Hypermetropia 3 low_record_burden_interpretation_limited low_record_burden_gene KCNA6 human_phenotype_ontology_hp_0002197_human_phenotype_ontology_hp_0002409_human_phenotype_ontology_hp_0007114_human_phenotype_ontology_hp_0007339_medgen_c0234533 Generalized-onset seizure Human_Phenotype_Ontology:HP:0002197,Human_Phenotype_Ontology:HP:0002409,Human_Phenotype_Ontology:HP:0007114,Human_Phenotype_Ontology:HP:0007339,MedGen:C0234533 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized-onset_seizure 3 low_record_burden_interpretation_limited low_record_burden_gene KCNA6 human_phenotype_ontology_hp_0002358_human_phenotype_ontology_hp_0007359_medgen_c0751495 Focal-onset seizure Human_Phenotype_Ontology:HP:0002358,Human_Phenotype_Ontology:HP:0007359,MedGen:C0751495 1 1 1.0000 condition_record_support_limited 20 0 1 Focal-onset_seizure 3 low_record_burden_interpretation_limited low_record_burden_gene KCNA6 human_phenotype_ontology_hp_0000286_human_phenotype_ontology_hp_0000624_human_phenotype_ontology_hp_0007930_medgen_c0678230_omim_131500 Epicanthus Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500 1 1 1.0000 condition_record_support_limited 20 0 1 Epicanthus 3 low_record_burden_interpretation_limited low_record_burden_gene KCNA6 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 3 low_record_burden_interpretation_limited low_record_burden_gene KCNA6 human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Atypical behavior Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 1 1 1.0000 condition_record_support_limited 20 0 1 Atypical_behavior 3 low_record_burden_interpretation_limited low_record_burden_gene KCNA3 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene KCNA3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 16 low_record_burden_interpretation_limited low_record_burden_gene KCNA2 kcna2_related_disorder KCNA2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 KCNA2-related_disorder 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNA2 kcn2a_related_disorder KCN2A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 KCN2A-related_disorder 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNA2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNA2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNA2 mondo_mondo_0100038_medgen_c5568766_orphanet_528084 Complex neurodevelopmental disorder MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 1 1 1.0000 condition_record_support_limited 20 0 1 Complex_neurodevelopmental_disorder 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNA1 medgen_c4016334 Myokymia 1 with hypomagnesemia MedGen:C4016334 1 1 1.0000 condition_record_support_limited 20 0 0 Myokymia_1_with_hypomagnesemia 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNA1 mondo_mondo_0012276_medgen_c5574945_omim_609446_orphanet_79137 Generalized epilepsy-paroxysmal dyskinesia syndrome MONDO:MONDO:0012276,MedGen:C5574945,OMIM:609446,Orphanet:79137 1 1 1.0000 condition_record_support_limited 20 0 0 Generalized_epilepsy-paroxysmal_dyskinesia_syndrome 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNA1 mondo_mondo_0044202_medgen_c1868682_omim_ps128200_orphanet_98809 Episodic kinesigenic dyskinesia MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200,Orphanet:98809 1 1 1.0000 condition_record_support_limited 20 0 1 Episodic_kinesigenic_dyskinesia 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KCNA1 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 0 Epileptic_encephalopathy 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KBTBD13 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene KATNIP mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 1 1 1.0000 condition_record_support_limited 20 0 1 Joubert_syndrome 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KATNIP mondo_mondo_0005308_medgen_c4277690_orphanet_363250 Ciliopathy MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 1 1 1.0000 condition_record_support_limited 20 0 0 Ciliopathy 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KATNB1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 13 low_record_burden_interpretation_limited low_record_burden_gene KAT6B human_phenotype_ontology_hp_0000076_human_phenotype_ontology_hp_0005998_human_phenotype_ontology_hp_0006002_human_phenotype_ontology_hp_0008667_mondo_mondo_0006007_medgen_c0042580 Vesicoureteral reflux Human_Phenotype_Ontology:HP:0000076,Human_Phenotype_Ontology:HP:0005998,Human_Phenotype_Ontology:HP:0006002,Human_Phenotype_Ontology:HP:0008667,MONDO:MONDO:0006007,MedGen:C0042580 1 1 1.0000 condition_record_support_limited 20 0 1 Vesicoureteral_reflux 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6B human_phenotype_ontology_hp_0000506_mondo_mondo_0008537_medgen_c0423113_omim_187350_orphanet_98575 Telecanthus Human_Phenotype_Ontology:HP:0000506,MONDO:MONDO:0008537,MedGen:C0423113,OMIM:187350,Orphanet:98575 1 1 1.0000 condition_record_support_limited 20 0 1 Telecanthus 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6B human_phenotype_ontology_hp_0000631_mondo_mondo_0008373_medgen_c0423401_omim_180000_orphanet_75326 Retinal arterial tortuosity Human_Phenotype_Ontology:HP:0000631,MONDO:MONDO:0008373,MedGen:C0423401,OMIM:180000,Orphanet:75326 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_arterial_tortuosity 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6B human_phenotype_ontology_hp_0000089_human_phenotype_ontology_hp_0001968_human_phenotype_ontology_hp_0004741_human_phenotype_ontology_hp_0008641_mondo_mondo_0019637_medgen_c0266295_orphanet_93101 Renal hypoplasia Human_Phenotype_Ontology:HP:0000089,Human_Phenotype_Ontology:HP:0001968,Human_Phenotype_Ontology:HP:0004741,Human_Phenotype_Ontology:HP:0008641,MONDO:MONDO:0019637,MedGen:C0266295,Orphanet:93101 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_hypoplasia 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6B human_phenotype_ontology_hp_0002465_medgen_c1848207 Poor speech Human_Phenotype_Ontology:HP:0002465,MedGen:C1848207 1 1 1.0000 condition_record_support_limited 20 0 1 Poor_speech 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6B mondo_mondo_0032814_medgen_c5231411_omim_618564_orphanet_477749 Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MONDO:MONDO:0032814,MedGen:C5231411,OMIM:618564,Orphanet:477749 1 1 1.0000 condition_record_support_limited 20 0 1 Microangiopathy_and_leukoencephalopathy,_pontine,_autosomal_dominant 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6B mondo_mondo_0007846_medgen_c0220687_omim_148050_orphanet_2332 KBG syndrome MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332 1 1 1.0000 condition_record_support_limited 20 0 0 KBG_syndrome 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6B kat6b_realted_disoder KAT6B-realted disoder . 1 1 1.0000 condition_record_support_limited 20 0 1 KAT6B-realted_disoder 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6B human_phenotype_ontology_hp_0000327_human_phenotype_ontology_hp_0004644_medgen_c0240310 Hypoplasia of the maxilla Human_Phenotype_Ontology:HP:0000327,Human_Phenotype_Ontology:HP:0004644,MedGen:C0240310 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplasia_of_the_maxilla 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6B mondo_mondo_0100533_medgen_c3281105_omim_614519 Hemorrhage, intracerebral, susceptibility to MONDO:MONDO:0100533,MedGen:C3281105,OMIM:614519 1 1 1.0000 condition_record_support_limited 20 0 1 Hemorrhage,_intracerebral,_susceptibility_to 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6B mondo_mondo_0700090_medgen_cn030884_omim_600512_orphanet_101046 Epilepsy, familial temporal lobe, 1 MONDO:MONDO:0700090,MedGen:CN030884,OMIM:600512,Orphanet:101046 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy,_familial_temporal_lobe,_1 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6B human_phenotype_ontology_hp_0000286_human_phenotype_ontology_hp_0000624_human_phenotype_ontology_hp_0007930_medgen_c0678230_omim_131500 Epicanthus Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500 1 1 1.0000 condition_record_support_limited 20 0 1 Epicanthus 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6B chromatinopathy Chromatinopathy . 1 1 1.0000 condition_record_support_limited 20 0 0 Chromatinopathy 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6B human_phenotype_ontology_hp_0000414_human_phenotype_ontology_hp_0000443_medgen_c0240543 Bulbous nose Human_Phenotype_Ontology:HP:0000414,Human_Phenotype_Ontology:HP:0000443,MedGen:C0240543 1 1 1.0000 condition_record_support_limited 20 0 1 Bulbous_nose 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6B mondo_mondo_0008289_medgen_c4755307_omim_175780_orphanet_2940_orphanet_36383_orphanet_99810 Brain small vessel disease 1 with or without ocular anomalies MONDO:MONDO:0008289,MedGen:C4755307,OMIM:175780,Orphanet:2940,Orphanet:36383,Orphanet:99810 1 1 1.0000 condition_record_support_limited 20 0 1 Brain_small_vessel_disease_1_with_or_without_ocular_anomalies 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6B human_phenotype_ontology_hp_0000507_human_phenotype_ontology_hp_0000513_human_phenotype_ontology_hp_0000581_mondo_mondo_0001008_medgen_c0005744 Blepharophimosis Human_Phenotype_Ontology:HP:0000507,Human_Phenotype_Ontology:HP:0000513,Human_Phenotype_Ontology:HP:0000581,MONDO:MONDO:0001008,MedGen:C0005744 1 1 1.0000 condition_record_support_limited 20 0 1 Blepharophimosis 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6B mondo_mondo_0012726_medgen_c2673195_omim_611773_orphanet_73229 Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome MONDO:MONDO:0012726,MedGen:C2673195,OMIM:611773,Orphanet:73229 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_familial_hematuria-retinal_arteriolar_tortuosity-contractures_syndrome 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6B human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 169 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6A human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 191 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6A human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 1.0000 condition_record_support_limited 20 0 1 Craniosynostosis_syndrome 191 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT6A mondo_mondo_0005453_medgen_c0152021 Congenital heart disease MONDO:MONDO:0005453,MedGen:C0152021 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_heart_disease 191 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture KAT2A condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 1 low_record_burden_interpretation_limited low_record_burden_gene KAT14 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 2 low_record_burden_interpretation_limited low_record_burden_gene KAT14 mondo_mondo_0033654_medgen_c5436723_omim_619063 Mitochondrial complex IV deficiency, nuclear type 19 MONDO:MONDO:0033654,MedGen:C5436723,OMIM:619063 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_IV_deficiency,_nuclear_type_19 2 low_record_burden_interpretation_limited low_record_burden_gene KAT14 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 2 low_record_burden_interpretation_limited low_record_burden_gene KASH5 medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 1 1 1.0000 condition_record_support_limited 20 0 1 Genetic_non-acquired_premature_ovarian_failure 7 low_record_burden_interpretation_limited low_record_burden_gene KASH5 human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Azoospermia Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 1.0000 condition_record_support_limited 20 0 0 Azoospermia 7 low_record_burden_interpretation_limited low_record_burden_gene KARS1 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorineural_hearing_loss_disorder 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KARS1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KARS1 human_phenotype_ontology_hp_0001329_human_phenotype_ontology_hp_0002073_human_phenotype_ontology_hp_0002496_human_phenotype_ontology_hp_0007331_medgen_c0393525 Progressive cerebellar ataxia Human_Phenotype_Ontology:HP:0001329,Human_Phenotype_Ontology:HP:0002073,Human_Phenotype_Ontology:HP:0002496,Human_Phenotype_Ontology:HP:0007331,MedGen:C0393525 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_cerebellar_ataxia 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KARS1 human_phenotype_ontology_hp_0001138_human_phenotype_ontology_hp_0007806_mondo_mondo_0002135_medgen_c3887709 Optic neuropathy Human_Phenotype_Ontology:HP:0001138,Human_Phenotype_Ontology:HP:0007806,MONDO:MONDO:0002135,MedGen:C3887709 1 1 1.0000 condition_record_support_limited 20 0 1 Optic_neuropathy 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KARS1 human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 1.0000 condition_record_support_limited 20 0 1 Nystagmus 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KARS1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KARS1 human_phenotype_ontology_hp_0003128_human_phenotype_ontology_hp_0003255_human_phenotype_ontology_hp_0005960_mondo_mondo_0006040_medgen_c0001125 Lactic acidosis Human_Phenotype_Ontology:HP:0003128,Human_Phenotype_Ontology:HP:0003255,Human_Phenotype_Ontology:HP:0005960,MONDO:MONDO:0006040,MedGen:C0001125 1 1 1.0000 condition_record_support_limited 20 0 1 Lactic_acidosis 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KARS1 kars_related_disorder KARS-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 KARS-related_disorder 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KARS1 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KARS1 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KARS1 human_phenotype_ontology_hp_0004455_human_phenotype_ontology_hp_0004457_human_phenotype_ontology_hp_0008520_human_phenotype_ontology_hp_0008521_human_phenotype_ontology_hp_0008527_human_phenotype_ontology_hp_0008540_human_phenotype_ontology_hp_0008543_human_phenotype_ontology_hp_0008545_human_phenotype_ontology_hp_0008546_human_phenotype_ontology_hp_0008556_human_phenotype_ontology_hp_0008558_human_phenotype_ontology_hp_0008561_human_phenotype_ontology_hp_0008571_human_phenotype_ontology_hp_0008603_human_phenotype_ontology_hp_0008612_human_phenotype_ontology_hp_0008620_medgen_c1865866 Congenital sensorineural hearing impairment Human_Phenotype_Ontology:HP:0004455,Human_Phenotype_Ontology:HP:0004457,Human_Phenotype_Ontology:HP:0008520,Human_Phenotype_Ontology:HP:0008521,Human_Phenotype_Ontology:HP:0008527,Human_Phenotype_Ontology:HP:0008540,Human_Phenotype_Ontology:HP:0008543,Human_Phenotype_Ontology:HP:0008545,Human_Phenotype_Ontology:HP:0008546,Human_Phenotype_Ontology:HP:0008556,Human_Phenotype_Ontology:HP:0008558,Human_Phenotype_Ontology:HP:0008561,Human_Phenotype_Ontology:HP:0008571,Human_Phenotype_Ontology:HP:0008603,Human_Phenotype_Ontology:HP:0008612,Human_Phenotype_Ontology:HP:0008620,MedGen:C1865866 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_sensorineural_hearing_impairment 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KARS1 human_phenotype_ontology_hp_0003488_human_phenotype_ontology_hp_0007161_human_phenotype_ontology_hp_0007225_human_phenotype_ontology_hp_0007256_human_phenotype_ontology_hp_0007275_human_phenotype_ontology_hp_0007324_human_phenotype_ontology_hp_0007347_medgen_c0234132 Abnormal pyramidal sign Human_Phenotype_Ontology:HP:0003488,Human_Phenotype_Ontology:HP:0007161,Human_Phenotype_Ontology:HP:0007225,Human_Phenotype_Ontology:HP:0007256,Human_Phenotype_Ontology:HP:0007275,Human_Phenotype_Ontology:HP:0007324,Human_Phenotype_Ontology:HP:0007347,MedGen:C0234132 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_pyramidal_sign 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KARS1 human_phenotype_ontology_hp_0002500_human_phenotype_ontology_hp_0200100_medgen_c0948163 Abnormal cerebral white matter morphology Human_Phenotype_Ontology:HP:0002500,Human_Phenotype_Ontology:HP:0200100,MedGen:C0948163 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cerebral_white_matter_morphology 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KANSL1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KANSL1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KANSL1 human_phenotype_ontology_hp_0006989_human_phenotype_ontology_hp_0006996_medgen_c0431369 Dysplastic corpus callosum Human_Phenotype_Ontology:HP:0006989,Human_Phenotype_Ontology:HP:0006996,MedGen:C0431369 1 1 1.0000 condition_record_support_limited 20 0 0 Dysplastic_corpus_callosum 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KANSL1 mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 Congenital myopathy MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myopathy 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KANSL1 chromatinopathy Chromatinopathy . 1 1 1.0000 condition_record_support_limited 20 0 0 Chromatinopathy 121 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture KANK2 mondo_mondo_0014492_medgen_c4015202_omim_616099_orphanet_420686 Wooly hair-palmoplantar keratoderma syndrome MONDO:MONDO:0014492,MedGen:C4015202,OMIM:616099,Orphanet:420686 1 1 1.0000 condition_record_support_limited 20 0 0 Wooly_hair-palmoplantar_keratoderma_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene KANK1 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 1 low_record_burden_interpretation_limited low_record_burden_gene JUP efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_dilated_cardiomyopathy 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JUP palmoplantar_keratodermas Palmoplantar keratodermas . 1 1 1.0000 condition_record_support_limited 20 0 0 Palmoplantar_keratodermas 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JUP human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 1.0000 condition_record_support_limited 20 0 0 Cardiomyopathy 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JUN human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Breast neoplasm Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 1 1 1.0000 condition_record_support_limited 20 0 0 Breast_neoplasm 1 low_record_burden_interpretation_limited low_record_burden_gene JPH2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene JPH2 mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 Primary familial hypertrophic cardiomyopathy MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_familial_hypertrophic_cardiomyopathy 9 low_record_burden_interpretation_limited low_record_burden_gene JPH2 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrophic_cardiomyopathy 9 low_record_burden_interpretation_limited low_record_burden_gene JPH2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 9 low_record_burden_interpretation_limited low_record_burden_gene JPH2 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 1.0000 condition_record_support_limited 20 0 0 Cardiomyopathy 9 low_record_burden_interpretation_limited low_record_burden_gene JMJD8 stub1_related_disorder STUB1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 STUB1-related_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JKAMP jkamp_related_neurodevelopmental_disorder JKAMP-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 JKAMP-related_neurodevelopmental_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene JKAMP jkamp_neurodevelopmental_disorder JKAMP neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 JKAMP_neurodevelopmental_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene JARID2 mondo_mondo_0002265_medgen_c0038273 Stereotypic movement disorder MONDO:MONDO:0002265,MedGen:C0038273 1 1 1.0000 condition_record_support_limited 20 0 1 Stereotypic_movement_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JARID2 human_phenotype_ontology_hp_0011098_medgen_c0264611 Speech apraxia Human_Phenotype_Ontology:HP:0011098,MedGen:C0264611 1 1 1.0000 condition_record_support_limited 20 0 1 Speech_apraxia 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JARID2 human_phenotype_ontology_hp_0001256_human_phenotype_ontology_hp_0006908_human_phenotype_ontology_hp_0007119_medgen_c0026106 Mild intellectual disability Human_Phenotype_Ontology:HP:0001256,Human_Phenotype_Ontology:HP:0006908,Human_Phenotype_Ontology:HP:0007119,MedGen:C0026106 1 1 1.0000 condition_record_support_limited 20 0 0 Mild_intellectual_disability 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JARID2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JARID2 mondo_mondo_0015802_medgen_c5680502_orphanet_178469 Autosomal dominant non-syndromic intellectual disability MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_non-syndromic_intellectual_disability 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JARID2 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JAM2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene JAM2 jam2_related_disorder JAM2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 JAM2-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene JAKMIP1 smith_magenis_syndrome_like Smith-Magenis Syndrome-like . 1 1 1.0000 condition_record_support_limited 20 0 0 Smith-Magenis_Syndrome-like 1 low_record_burden_interpretation_limited low_record_burden_gene JAK3 susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JAK3 mondo_mondo_0007064_medgen_c0392607_omim_102700_orphanet_277 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency MONDO:MONDO:0007064,MedGen:C0392607,OMIM:102700,Orphanet:277 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JAK3 mondo_mondo_0016996_medgen_c4509932_orphanet_263665 NK-cell enteropathy MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665 1 1 1.0000 condition_record_support_limited 20 0 0 NK-cell_enteropathy 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JAK3 jak3_related_disorder JAK3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 JAK3-related_disorder 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JAK2 human_phenotype_ontology_hp_0001744_human_phenotype_ontology_hp_0001745_human_phenotype_ontology_hp_0006269_medgen_c0038002 Splenomegaly Human_Phenotype_Ontology:HP:0001744,Human_Phenotype_Ontology:HP:0001745,Human_Phenotype_Ontology:HP:0006269,MedGen:C0038002 1 1 1.0000 condition_record_support_limited 20 0 1 Splenomegaly 8 low_record_burden_interpretation_limited low_record_burden_gene JAK2 mondo_mondo_0009692_mesh_d055728_medgen_c0001815_omim_254450_orphanet_824 Primary myelofibrosis MONDO:MONDO:0009692,MeSH:D055728,MedGen:C0001815,OMIM:254450,Orphanet:824 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_myelofibrosis 8 low_record_burden_interpretation_limited low_record_burden_gene JAK2 mondo_mondo_0007572_medgen_c4551637_omim_133100_orphanet_90042 Primary familial polycythemia due to EPO receptor mutation MONDO:MONDO:0007572,MedGen:C4551637,OMIM:133100,Orphanet:90042 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_familial_polycythemia_due_to_EPO_receptor_mutation 8 low_record_burden_interpretation_limited low_record_burden_gene JAK2 human_phenotype_ontology_hp_0001893_human_phenotype_ontology_hp_0001901_mondo_mondo_0005571_medgen_c0032461_orphanet_98427 Polycythemia Human_Phenotype_Ontology:HP:0001893,Human_Phenotype_Ontology:HP:0001901,MONDO:MONDO:0005571,MedGen:C0032461,Orphanet:98427 1 1 1.0000 condition_record_support_limited 20 0 1 Polycythemia 8 low_record_burden_interpretation_limited low_record_burden_gene JAK2 human_phenotype_ontology_hp_0005547_mesh_d009196_medgen_c0027022 Myeloproliferative disorder Human_Phenotype_Ontology:HP:0005547,MeSH:D009196,MedGen:C0027022 1 1 1.0000 condition_record_support_limited 20 0 1 Myeloproliferative_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene JAK2 jak2_related_disorder JAK2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 JAK2-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene JAK2 medgen_c4016234 ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC MedGen:C4016234 1 1 1.0000 condition_record_support_limited 20 0 0 ERYTHROCYTOSIS,_JAK2-RELATED,_SOMATIC 8 low_record_burden_interpretation_limited low_record_burden_gene JAK2 budd_chiari_syndrome_susceptibility_to_somatic Budd-Chiari syndrome, susceptibility to, somatic . 1 1 1.0000 condition_record_support_limited 20 0 1 Budd-Chiari_syndrome,_susceptibility_to,_somatic 8 low_record_burden_interpretation_limited low_record_burden_gene JAK2 human_phenotype_ontology_hp_0002639_mondo_mondo_0010947_medgen_c0856761_omim_600880_orphanet_131 Budd-Chiari syndrome Human_Phenotype_Ontology:HP:0002639,MONDO:MONDO:0010947,MedGen:C0856761,OMIM:600880,Orphanet:131 1 1 1.0000 condition_record_support_limited 20 0 1 Budd-Chiari_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene JAK1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 4 low_record_burden_interpretation_limited low_record_burden_gene JAK1 mondo_mondo_0020526_medgen_c5925108_orphanet_99887 Acute megakaryoblastic leukemia in down syndrome MONDO:MONDO:0020526,MedGen:C5925108,Orphanet:99887 1 1 1.0000 condition_record_support_limited 20 0 0 Acute_megakaryoblastic_leukemia_in_down_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene JAGN1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene JAG2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene JAG1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 461 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JAG1 human_phenotype_ontology_hp_0002884_mondo_mondo_0018666_medgen_c0206624_orphanet_449 Hepatoblastoma Human_Phenotype_Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624,Orphanet:449 1 1 1.0000 condition_record_support_limited 20 0 0 Hepatoblastoma 461 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JAG1 human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 1.0000 condition_record_support_limited 20 0 1 Heart,_malformation_of 461 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JAG1 mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 461 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture JAG1 medgen_c0011053 Deafness MedGen:C0011053 1 1 1.0000 condition_record_support_limited 20 0 0 Deafness 461 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IYD iyd_related_disorder IYD-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 IYD-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene IVD medgen_c4017057 Isovaleric acidemia, type III MedGen:C4017057 1 1 1.0000 condition_record_support_limited 20 0 1 Isovaleric_acidemia,_type_III 172 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITSN1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITSN1 mondo_mondo_0007974_medgen_c1969562_omim_156200_orphanet_228402 Intellectual disability, autosomal dominant 1 MONDO:MONDO:0007974,MedGen:C1969562,OMIM:156200,Orphanet:228402 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_autosomal_dominant_1 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITSN1 itsn1_related_neurodevelopmental_disorder ITSN1-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ITSN1-related_neurodevelopmental_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITSN1 itsn1_associated_neurodevelopmental_disorder ITSN1-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ITSN1-associated_neurodevelopmental_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITSN1 human_phenotype_ontology_hp_0002197_human_phenotype_ontology_hp_0002409_human_phenotype_ontology_hp_0007114_human_phenotype_ontology_hp_0007339_medgen_c0234533 Generalized-onset seizure Human_Phenotype_Ontology:HP:0002197,Human_Phenotype_Ontology:HP:0002409,Human_Phenotype_Ontology:HP:0007114,Human_Phenotype_Ontology:HP:0007339,MedGen:C0234533 1 1 1.0000 condition_record_support_limited 20 0 0 Generalized-onset_seizure 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITSN1 human_phenotype_ontology_hp_0000729_medgen_c0856975 Autistic behavior Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 1.0000 condition_record_support_limited 20 0 0 Autistic_behavior 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITPR3 mondo_mondo_0019171_medgen_c1141890_omim_ps192500_orphanet_101016_orphanet_768 Congenital long QT syndrome MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_long_QT_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene ITPR2 mondo_mondo_0007118_medgen_c5568836_omim_106190_orphanet_468666 Isolated anhidrosis with normal sweat glands MONDO:MONDO:0007118,MedGen:C5568836,OMIM:106190,Orphanet:468666 1 1 1.0000 condition_record_support_limited 20 0 0 Isolated_anhidrosis_with_normal_sweat_glands 2 low_record_burden_interpretation_limited low_record_burden_gene ITPR2 mondo_mondo_0005439_medgen_c0020445_omim_ps143890 Familial hypercholesterolemia MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_hypercholesterolemia 2 low_record_burden_interpretation_limited low_record_burden_gene ITPR1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 85 large_gene_or_donor_burden_stress_case donor_burden_stress ITPR1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 85 large_gene_or_donor_burden_stress_case donor_burden_stress ITPR1 itpr1_related_disorders ITPR1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 ITPR1-related_disorders 85 large_gene_or_donor_burden_stress_case donor_burden_stress ITPR1 itpr1_associated_cerebellar_ataxia_spectrum_disorder ITPR1-associated cerebellar ataxia spectrum disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ITPR1-associated_cerebellar_ataxia_spectrum_disorder 85 large_gene_or_donor_burden_stress_case donor_burden_stress ITPR1 human_phenotype_ontology_hp_0007932_medgen_c4024770 Bilateral congenital mydriasis Human_Phenotype_Ontology:HP:0007932,MedGen:C4024770 1 1 1.0000 condition_record_support_limited 20 0 0 Bilateral_congenital_mydriasis 85 large_gene_or_donor_burden_stress_case donor_burden_stress ITPR1 human_phenotype_ontology_hp_0007696_human_phenotype_ontology_hp_0007699_human_phenotype_ontology_hp_0007700_human_phenotype_ontology_hp_0008040_mondo_mondo_0019503_medgen_c1862839_omim_ps107250_orphanet_88632 Anterior segment dysgenesis Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632 1 1 1.0000 condition_record_support_limited 20 0 1 Anterior_segment_dysgenesis 85 large_gene_or_donor_burden_stress_case donor_burden_stress ITPA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITPA itpa_related_disorder ITPA-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ITPA-related_disorder 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITPA human_phenotype_ontology_hp_0000668_mondo_mondo_0005486_medgen_c0020608_omim_ps106600_orphanet_99798 Hypodontia Human_Phenotype_Ontology:HP:0000668,MONDO:MONDO:0005486,MedGen:C0020608,OMIM:PS106600,Orphanet:99798 1 1 1.0000 condition_record_support_limited 20 0 1 Hypodontia 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITM2B condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene ITM2B mondo_mondo_0014483_medgen_c4015146_omim_616079_orphanet_397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies MONDO:MONDO:0014483,MedGen:C4015146,OMIM:616079,Orphanet:397758 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy_with_inner_retinal_dysfunction_and_ganglion_cell_anomalies 4 low_record_burden_interpretation_limited low_record_burden_gene ITM2B mondo_mondo_0007297_medgen_c1861735_omim_117300_orphanet_439254_orphanet_97346 ADan amyloidosis MONDO:MONDO:0007297,MedGen:C1861735,OMIM:117300,Orphanet:439254,Orphanet:97346 1 1 1.0000 condition_record_support_limited 20 0 0 ADan_amyloidosis 4 low_record_burden_interpretation_limited low_record_burden_gene ITK mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITIH6 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene ITGB6 adolescent_alopeciam_dentogingival_abnormalitites_and_intellectual_disability Adolescent alopeciam dentogingival abnormalitites and intellectual disability MedGen:CN233177 1 1 1.0000 condition_record_support_limited 20 0 0 Adolescent_alopeciam_dentogingival_abnormalitites_and_intellectual_disability 8 low_record_burden_interpretation_limited low_record_burden_gene ITGB4 human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Abnormality of the skin Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_skin 160 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ITGB3 human_phenotype_ontology_hp_0040185_medgen_c2751260 Macrothrombocytopenia Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260 1 1 1.0000 condition_record_support_limited 20 0 0 Macrothrombocytopenia 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGB3 human_phenotype_ontology_hp_0011877_medgen_c1096367 Increased mean platelet volume Human_Phenotype_Ontology:HP:0011877,MedGen:C1096367 1 1 1.0000 condition_record_support_limited 20 0 1 Increased_mean_platelet_volume 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGB3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGB3 mondo_mondo_0007818_medgen_c2936739_omim_147060_orphanet_2314 Hyper-IgE recurrent infection syndrome 1, autosomal dominant MONDO:MONDO:0007818,MedGen:C2936739,OMIM:147060,Orphanet:2314 1 1 1.0000 condition_record_support_limited 20 0 1 Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGAV susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 5 low_record_burden_interpretation_limited low_record_burden_gene ITGA7 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA6 mondo_mondo_0017612_medgen_c0079301_omim_ps226650_orphanet_305 Junctional epidermolysis bullosa MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305 1 1 1.0000 condition_record_support_limited 20 0 0 Junctional_epidermolysis_bullosa 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA6 mondo_mondo_0006541_mesh_d004820_medgen_c0014527 Epidermolysis bullosa MONDO:MONDO:0006541,MeSH:D004820,MedGen:C0014527 1 1 1.0000 condition_record_support_limited 20 0 1 Epidermolysis_bullosa 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA6 mondo_mondo_0957430_medgen_c0036346_orphanet_641496 Childhood-onset schizophrenia MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 1.0000 condition_record_support_limited 20 0 0 Childhood-onset_schizophrenia 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA4 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 7 low_record_burden_interpretation_limited low_record_burden_gene ITGA2B human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombocytopenia 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA2B human_phenotype_ontology_hp_0040185_medgen_c2751260 Macrothrombocytopenia Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260 1 1 1.0000 condition_record_support_limited 20 0 1 Macrothrombocytopenia 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA2B human_phenotype_ontology_hp_0011869_medgen_c0855740 Abnormal platelet function Human_Phenotype_Ontology:HP:0011869,MedGen:C0855740 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_platelet_function 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA2B human_phenotype_ontology_hp_0030402_medgen_c0541767 Abnormal platelet aggregation Human_Phenotype_Ontology:HP:0030402,MedGen:C0541767 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_platelet_aggregation 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITGA2B human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_bleeding 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ITFG2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene ISLR2 mondo_mondo_0014625_medgen_c4225337_omim_616409_orphanet_442835 Developmental and epileptic encephalopathy, 33 MONDO:MONDO:0014625,MedGen:C4225337,OMIM:616409,Orphanet:442835 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_33 1 low_record_burden_interpretation_limited low_record_burden_gene ISCA2 human_phenotype_ontology_hp_0001280_human_phenotype_ontology_hp_0002510_human_phenotype_ontology_hp_0006983_mondo_mondo_0016215_medgen_c0426970_omim_ps612900_orphanet_210141 Spastic quadriplegic cerebral palsy Human_Phenotype_Ontology:HP:0001280,Human_Phenotype_Ontology:HP:0002510,Human_Phenotype_Ontology:HP:0006983,MONDO:MONDO:0016215,MedGen:C0426970,OMIM:PS612900,Orphanet:210141 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_quadriplegic_cerebral_palsy 4 low_record_burden_interpretation_limited low_record_burden_gene ISCA2 human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 1.0000 condition_record_support_limited 20 0 1 Optic_atrophy 4 low_record_burden_interpretation_limited low_record_burden_gene ISCA2 human_phenotype_ontology_hp_0002180_mondo_mondo_0005559_medgen_c0027746 Neurodegeneration Human_Phenotype_Ontology:HP:0002180,MONDO:MONDO:0005559,MedGen:C0027746 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodegeneration 4 low_record_burden_interpretation_limited low_record_burden_gene ISCA2 human_phenotype_ontology_hp_0002490_medgen_c1167918 Increased CSF lactate Human_Phenotype_Ontology:HP:0002490,MedGen:C1167918 1 1 1.0000 condition_record_support_limited 20 0 1 Increased_CSF_lactate 4 low_record_burden_interpretation_limited low_record_burden_gene ISCA2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 4 low_record_burden_interpretation_limited low_record_burden_gene ISCA2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 4 low_record_burden_interpretation_limited low_record_burden_gene ISCA2 mondo_mondo_0017338_medgen_c3502075_omim_ps605711_orphanet_289573 Fatal multiple mitochondrial dysfunctions syndrome MONDO:MONDO:0017338,MedGen:C3502075,OMIM:PS605711,Orphanet:289573 1 1 1.0000 condition_record_support_limited 20 0 1 Fatal_multiple_mitochondrial_dysfunctions_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene ISCA2 human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive 4 low_record_burden_interpretation_limited low_record_burden_gene ISCA2 human_phenotype_ontology_hp_0001522_human_phenotype_ontology_hp_0003816_human_phenotype_ontology_hp_0003817_human_phenotype_ontology_hp_0003818_human_phenotype_ontology_hp_0003823_human_phenotype_ontology_hp_0003827_medgen_c1858430 Death in infancy Human_Phenotype_Ontology:HP:0001522,Human_Phenotype_Ontology:HP:0003816,Human_Phenotype_Ontology:HP:0003817,Human_Phenotype_Ontology:HP:0003818,Human_Phenotype_Ontology:HP:0003823,Human_Phenotype_Ontology:HP:0003827,MedGen:C1858430 1 1 1.0000 condition_record_support_limited 20 0 1 Death_in_infancy 4 low_record_burden_interpretation_limited low_record_burden_gene ISCA2 human_phenotype_ontology_hp_0002320_human_phenotype_ontology_hp_0008936_medgen_c1853743 Axial hypotonia Human_Phenotype_Ontology:HP:0002320,Human_Phenotype_Ontology:HP:0008936,MedGen:C1853743 1 1 1.0000 condition_record_support_limited 20 0 1 Axial_hypotonia 4 low_record_burden_interpretation_limited low_record_burden_gene ISCA1 mondo_mondo_0033282_medgen_c4539919_omim_617613_orphanet_569274 Multiple mitochondrial dysfunctions syndrome 5 MONDO:MONDO:0033282,MedGen:C4539919,OMIM:617613,Orphanet:569274 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_mitochondrial_dysfunctions_syndrome_5 1 low_record_burden_interpretation_limited low_record_burden_gene IRX4 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 3 low_record_burden_interpretation_limited low_record_burden_gene IRF8 mondo_mondo_0013957_medgen_c3808589_omim_614893_orphanet_319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency MONDO:MONDO:0013957,MedGen:C3808589,OMIM:614893,Orphanet:319600 1 1 1.0000 condition_record_support_limited 20 0 0 Mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_IRF8_deficiency 3 low_record_burden_interpretation_limited low_record_burden_gene IRF8 mondo_mondo_0009194_medgen_c4751209_omim_226990_orphanet_2566 Immunodeficiency 32B MONDO:MONDO:0009194,MedGen:C4751209,OMIM:226990,Orphanet:2566 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_32B 3 low_record_burden_interpretation_limited low_record_burden_gene IRF8 human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Esophageal atresia/tracheoesophageal fistula Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 1.0000 condition_record_support_limited 20 0 0 Esophageal_atresia/tracheoesophageal_fistula 3 low_record_burden_interpretation_limited low_record_burden_gene IRF6 mondo_mondo_0007335_mesh_c566121_medgen_c1861537_omim_119530 Orofacial cleft 1 MONDO:MONDO:0007335,MeSH:C566121,MedGen:C1861537,OMIM:119530 1 1 1.0000 condition_record_support_limited 20 0 0 Orofacial_cleft_1 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IRF6 human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Cleft palate Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 1.0000 condition_record_support_limited 20 0 1 Cleft_palate 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IRF5 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene IRF2BPL human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_paraplegia 96 single_exon_hotspot_opportunity local_compact_architecture IRF2BPL human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 0 Seizure 96 single_exon_hotspot_opportunity local_compact_architecture IRF2BPL mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 96 single_exon_hotspot_opportunity local_compact_architecture IRF2BPL human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 96 single_exon_hotspot_opportunity local_compact_architecture IRF2BPL human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 96 single_exon_hotspot_opportunity local_compact_architecture IRF2BPL mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 96 single_exon_hotspot_opportunity local_compact_architecture IRF1 human_phenotype_ontology_hp_0030358_mondo_mondo_0005233_mesh_d002289_medgen_c0007131 Non-small cell lung carcinoma Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131 1 1 1.0000 condition_record_support_limited 20 0 0 Non-small_cell_lung_carcinoma 4 low_record_burden_interpretation_limited low_record_burden_gene IRF1 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 1 1 1.0000 condition_record_support_limited 20 0 0 Gastric_cancer 4 low_record_burden_interpretation_limited low_record_burden_gene IRAK4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IRAK4 invasive_pneumococcal_disease_recurrent_isolated Invasive pneumococcal disease, recurrent isolated MedGen:CN228622 1 1 1.0000 condition_record_support_limited 20 0 1 Invasive_pneumococcal_disease,_recurrent_isolated 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IRAK4 irak4_related_disorder IRAK4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 IRAK4-related_disorder 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IRAK4 mondo_mondo_0019403_medgen_c0002876_omim_ps224120_orphanet_85 Congenital dyserythropoietic anemia MONDO:MONDO:0019403,MedGen:C0002876,OMIM:PS224120,Orphanet:85 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_dyserythropoietic_anemia 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IRAK1BP1 mondo_mondo_0000508_medgen_c5680525_orphanet_183763 Syndromic intellectual disability MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 1.0000 condition_record_support_limited 20 0 1 Syndromic_intellectual_disability 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IRAK1BP1 human_phenotype_ontology_hp_0100753_mondo_mondo_0005090_mesh_d012559_medgen_c0036341_omim_181500 Schizophrenia Human_Phenotype_Ontology:HP:0100753,MONDO:MONDO:0005090,MeSH:D012559,MedGen:C0036341,OMIM:181500 1 1 1.0000 condition_record_support_limited 20 0 0 Schizophrenia 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IRAK1BP1 phip_related_disorder PHIP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PHIP-related_disorder 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IQSEC2 mondo_mondo_0018614_medgen_c5680057_orphanet_442835 Undetermined early-onset epileptic encephalopathy MONDO:MONDO:0018614,MedGen:C5680057,Orphanet:442835 1 1 1.0000 condition_record_support_limited 20 0 0 Undetermined_early-onset_epileptic_encephalopathy 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IQSEC2 mondo_mondo_0010662_medgen_c2745996_omim_309560_orphanet_2824 Paraplegia-intellectual disability-hyperkeratosis syndrome MONDO:MONDO:0010662,MedGen:C2745996,OMIM:309560,Orphanet:2824 1 1 1.0000 condition_record_support_limited 20 0 1 Paraplegia-intellectual_disability-hyperkeratosis_syndrome 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IQSEC2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IQSEC2 mondo_mondo_0026723_medgen_c5193009_omim_301024 Intellectual developmental disorder, X-linked 108 MONDO:MONDO:0026723,MedGen:C5193009,OMIM:301024 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder,_X-linked_108 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IQSEC2 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IQSEC2 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IQSEC1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene IQGAP3 motor_and_sensory_neuropathy Motor and sensory neuropathy . 1 1 1.0000 condition_record_support_limited 20 0 0 Motor_and_sensory_neuropathy 1 low_record_burden_interpretation_limited low_record_burden_gene IQCE condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene IQCE mondo_mondo_0008266_medgen_c4282400_omim_174200 Polydactyly, postaxial, type A1 MONDO:MONDO:0008266,MedGen:C4282400,OMIM:174200 1 1 1.0000 condition_record_support_limited 20 0 1 Polydactyly,_postaxial,_type_A1 9 low_record_burden_interpretation_limited low_record_burden_gene IQCB1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IQCB1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 94 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IPO8 thoracic_aortic_aneurysm_or_dissection Thoracic aortic aneurysm or dissection . 1 1 1.0000 condition_record_support_limited 20 0 0 Thoracic_aortic_aneurysm_or_dissection 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IPO8 ipo8_related_disorder IPO8-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 IPO8-related_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IPO8 mondo_mondo_0011812_medgen_c1623209_omim_607323_orphanet_93293_orphanet_959 Duane-radial ray syndrome MONDO:MONDO:0011812,MedGen:C1623209,OMIM:607323,Orphanet:93293,Orphanet:959 1 1 1.0000 condition_record_support_limited 20 0 1 Duane-radial_ray_syndrome 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INVS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INTU mondo_mondo_0009642_medgen_c0026363_omim_252100_orphanet_2751 Mohr syndrome MONDO:MONDO:0009642,MedGen:C0026363,OMIM:252100,Orphanet:2751 1 1 1.0000 condition_record_support_limited 20 0 1 Mohr_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene INTS6 ints6_associated_neurodevelopmental_disorder INTS6-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 INTS6-associated_neurodevelopmental_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene INSR human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Type 2 diabetes mellitus Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 1 1 1.0000 condition_record_support_limited 20 0 0 Type_2_diabetes_mellitus 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INSR human_phenotype_ontology_hp_0000831_medgen_c0854110 Insulin-resistant diabetes mellitus Human_Phenotype_Ontology:HP:0000831,MedGen:C0854110 1 1 1.0000 condition_record_support_limited 20 0 0 Insulin-resistant_diabetes_mellitus 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INSR mondo_mondo_0020040_medgen_c2751824_orphanet_98085 46,XY disorder of sex development MONDO:MONDO:0020040,MedGen:C2751824,Orphanet:98085 1 1 1.0000 condition_record_support_limited 20 0 0 46,XY_disorder_of_sex_development 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INSL6 human_phenotype_ontology_hp_0001744_human_phenotype_ontology_hp_0001745_human_phenotype_ontology_hp_0006269_medgen_c0038002 Splenomegaly Human_Phenotype_Ontology:HP:0001744,Human_Phenotype_Ontology:HP:0001745,Human_Phenotype_Ontology:HP:0006269,MedGen:C0038002 1 1 1.0000 condition_record_support_limited 20 0 1 Splenomegaly 8 low_record_burden_interpretation_limited low_record_burden_gene INSL6 mondo_mondo_0009692_mesh_d055728_medgen_c0001815_omim_254450_orphanet_824 Primary myelofibrosis MONDO:MONDO:0009692,MeSH:D055728,MedGen:C0001815,OMIM:254450,Orphanet:824 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_myelofibrosis 8 low_record_burden_interpretation_limited low_record_burden_gene INSL6 mondo_mondo_0007572_medgen_c4551637_omim_133100_orphanet_90042 Primary familial polycythemia due to EPO receptor mutation MONDO:MONDO:0007572,MedGen:C4551637,OMIM:133100,Orphanet:90042 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_familial_polycythemia_due_to_EPO_receptor_mutation 8 low_record_burden_interpretation_limited low_record_burden_gene INSL6 human_phenotype_ontology_hp_0001893_human_phenotype_ontology_hp_0001901_mondo_mondo_0005571_medgen_c0032461_orphanet_98427 Polycythemia Human_Phenotype_Ontology:HP:0001893,Human_Phenotype_Ontology:HP:0001901,MONDO:MONDO:0005571,MedGen:C0032461,Orphanet:98427 1 1 1.0000 condition_record_support_limited 20 0 1 Polycythemia 8 low_record_burden_interpretation_limited low_record_burden_gene INSL6 human_phenotype_ontology_hp_0005547_mesh_d009196_medgen_c0027022 Myeloproliferative disorder Human_Phenotype_Ontology:HP:0005547,MeSH:D009196,MedGen:C0027022 1 1 1.0000 condition_record_support_limited 20 0 1 Myeloproliferative_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene INSL6 jak2_related_disorder JAK2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 JAK2-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene INSL6 medgen_c4016234 ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC MedGen:C4016234 1 1 1.0000 condition_record_support_limited 20 0 0 ERYTHROCYTOSIS,_JAK2-RELATED,_SOMATIC 8 low_record_burden_interpretation_limited low_record_burden_gene INSL6 budd_chiari_syndrome_susceptibility_to_somatic Budd-Chiari syndrome, susceptibility to, somatic . 1 1 1.0000 condition_record_support_limited 20 0 1 Budd-Chiari_syndrome,_susceptibility_to,_somatic 8 low_record_burden_interpretation_limited low_record_burden_gene INSL6 human_phenotype_ontology_hp_0002639_mondo_mondo_0010947_medgen_c0856761_omim_600880_orphanet_131 Budd-Chiari syndrome Human_Phenotype_Ontology:HP:0002639,MONDO:MONDO:0010947,MedGen:C0856761,OMIM:600880,Orphanet:131 1 1 1.0000 condition_record_support_limited 20 0 1 Budd-Chiari_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene INSL3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 7 low_record_burden_interpretation_limited low_record_burden_gene INSL3 human_phenotype_ontology_hp_0008686_human_phenotype_ontology_hp_0008689_medgen_c0431663 Bilateral cryptorchidism Human_Phenotype_Ontology:HP:0008686,Human_Phenotype_Ontology:HP:0008689,MedGen:C0431663 1 1 1.0000 condition_record_support_limited 20 0 0 Bilateral_cryptorchidism 7 low_record_burden_interpretation_limited low_record_burden_gene INS human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Type 2 diabetes mellitus Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 1 1 1.0000 condition_record_support_limited 20 0 1 Type_2_diabetes_mellitus 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INS mondo_mondo_0015967_medgen_c3888631_orphanet_183625 Monogenic diabetes MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_diabetes 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INS human_phenotype_ontology_hp_0100651_mondo_mondo_0005147_medgen_c0011854_omim_222100 Diabetes mellitus type 1 Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100 1 1 1.0000 condition_record_support_limited 20 0 1 Diabetes_mellitus_type_1 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INS mondo_mondo_0054750_medgen_c4693523_omim_617892 Amyotrophic lateral sclerosis, susceptibility to, 24 MONDO:MONDO:0054750,MedGen:C4693523,OMIM:617892 1 1 1.0000 condition_record_support_limited 20 0 1 Amyotrophic_lateral_sclerosis,_susceptibility_to,_24 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INPP5K condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene INPP5K mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene INPP5F mondo_mondo_0005439_medgen_c0020445_omim_ps143890 Familial hypercholesterolemia MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_hypercholesterolemia 1 low_record_burden_interpretation_limited low_record_burden_gene INPP5E human_phenotype_ontology_hp_0003422_human_phenotype_ontology_hp_0005705_medgen_c0432163 Vertebral segmentation defect Human_Phenotype_Ontology:HP:0003422,Human_Phenotype_Ontology:HP:0005705,MedGen:C0432163 1 1 1.0000 condition_record_support_limited 20 0 1 Vertebral_segmentation_defect 79 compact_adjacent_exon_block_opportunity local_compact_architecture INPP5E human_phenotype_ontology_hp_0008417_human_phenotype_ontology_hp_0008431_medgen_c0345394 Vertebral hypoplasia Human_Phenotype_Ontology:HP:0008417,Human_Phenotype_Ontology:HP:0008431,MedGen:C0345394 1 1 1.0000 condition_record_support_limited 20 0 1 Vertebral_hypoplasia 79 compact_adjacent_exon_block_opportunity local_compact_architecture INPP5E human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Skeletal dysplasia Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 1 1 1.0000 condition_record_support_limited 20 0 1 Skeletal_dysplasia 79 compact_adjacent_exon_block_opportunity local_compact_architecture INPP5E human_phenotype_ontology_hp_0003097_human_phenotype_ontology_hp_0009749_mondo_mondo_0016032_medgen_c0345375_orphanet_1987 Short femur Human_Phenotype_Ontology:HP:0003097,Human_Phenotype_Ontology:HP:0009749,MONDO:MONDO:0016032,MedGen:C0345375,Orphanet:1987 1 1 1.0000 condition_record_support_limited 20 0 1 Short_femur 79 compact_adjacent_exon_block_opportunity local_compact_architecture INPP5E human_phenotype_ontology_hp_0002878_human_phenotype_ontology_hp_0004877_mondo_mondo_0021113_medgen_c1145670 Respiratory failure Human_Phenotype_Ontology:HP:0002878,Human_Phenotype_Ontology:HP:0004877,MONDO:MONDO:0021113,MedGen:C1145670 1 1 1.0000 condition_record_support_limited 20 0 1 Respiratory_failure 79 compact_adjacent_exon_block_opportunity local_compact_architecture INPP5E human_phenotype_ontology_hp_0005864_medgen_c0033785 Pseudoarthrosis Human_Phenotype_Ontology:HP:0005864,MedGen:C0033785 1 1 1.0000 condition_record_support_limited 20 0 1 Pseudoarthrosis 79 compact_adjacent_exon_block_opportunity local_compact_architecture INPP5E human_phenotype_ontology_hp_0001841_human_phenotype_ontology_hp_0009607_human_phenotype_ontology_hp_0010050_medgen_c2112942 Preaxial foot polydactyly Human_Phenotype_Ontology:HP:0001841,Human_Phenotype_Ontology:HP:0009607,Human_Phenotype_Ontology:HP:0010050,MedGen:C2112942 1 1 1.0000 condition_record_support_limited 20 0 1 Preaxial_foot_polydactyly 79 compact_adjacent_exon_block_opportunity local_compact_architecture INPP5E human_phenotype_ontology_hp_0001643_mondo_mondo_0011827_medgen_c0013274_omim_ps607411 Patent ductus arteriosus Human_Phenotype_Ontology:HP:0001643,MONDO:MONDO:0011827,MedGen:C0013274,OMIM:PS607411 1 1 1.0000 condition_record_support_limited 20 0 1 Patent_ductus_arteriosus 79 compact_adjacent_exon_block_opportunity local_compact_architecture INPP5E human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Micrognathia Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 1.0000 condition_record_support_limited 20 0 1 Micrognathia 79 compact_adjacent_exon_block_opportunity local_compact_architecture INPP5E mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 1 Leber_congenital_amaurosis 79 compact_adjacent_exon_block_opportunity local_compact_architecture INPP5E mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 79 compact_adjacent_exon_block_opportunity local_compact_architecture INPP5E human_phenotype_ontology_hp_0002937_medgen_c0265677 Hemivertebrae Human_Phenotype_Ontology:HP:0002937,MedGen:C0265677 1 1 1.0000 condition_record_support_limited 20 0 1 Hemivertebrae 79 compact_adjacent_exon_block_opportunity local_compact_architecture INPP5E human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 1.0000 condition_record_support_limited 20 0 0 Focal_segmental_glomerulosclerosis 79 compact_adjacent_exon_block_opportunity local_compact_architecture INPP5E human_phenotype_ontology_hp_0006665_medgen_c4025010 Coat hanger sign of ribs Human_Phenotype_Ontology:HP:0006665,MedGen:C4025010 1 1 1.0000 condition_record_support_limited 20 0 1 Coat_hanger_sign_of_ribs 79 compact_adjacent_exon_block_opportunity local_compact_architecture INPP5E human_phenotype_ontology_hp_0001762_mondo_mondo_0007342_medgen_c0009081_omim_119800_orphanet_199315 Clubfoot Human_Phenotype_Ontology:HP:0001762,MONDO:MONDO:0007342,MedGen:C0009081,OMIM:119800,Orphanet:199315 1 1 1.0000 condition_record_support_limited 20 0 1 Clubfoot 79 compact_adjacent_exon_block_opportunity local_compact_architecture INPP5E human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Cleft palate Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 1.0000 condition_record_support_limited 20 0 1 Cleft_palate 79 compact_adjacent_exon_block_opportunity local_compact_architecture INPP5E human_phenotype_ontology_hp_0006528_medgen_c0746102 Chronic lung disease Human_Phenotype_Ontology:HP:0006528,MedGen:C0746102 1 1 1.0000 condition_record_support_limited 20 0 1 Chronic_lung_disease 79 compact_adjacent_exon_block_opportunity local_compact_architecture INPP5E human_phenotype_ontology_hp_0010577_medgen_c4021862 Absent epiphyses Human_Phenotype_Ontology:HP:0010577,MedGen:C4021862 1 1 1.0000 condition_record_support_limited 20 0 1 Absent_epiphyses 79 compact_adjacent_exon_block_opportunity local_compact_architecture INPP5E human_phenotype_ontology_hp_0006513_human_phenotype_ontology_hp_0006530_human_phenotype_ontology_hp_0006547_mondo_mondo_0015925_medgen_c5441745_orphanet_182095 Abnormal pulmonary interstitial morphology Human_Phenotype_Ontology:HP:0006513,Human_Phenotype_Ontology:HP:0006530,Human_Phenotype_Ontology:HP:0006547,MONDO:MONDO:0015925,MedGen:C5441745,Orphanet:182095 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_pulmonary_interstitial_morphology 79 compact_adjacent_exon_block_opportunity local_compact_architecture INPP5B mondo_mondo_0010359_medgen_c1845167_omim_300555_orphanet_1652_orphanet_93623 Dent disease type 2 MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555,Orphanet:1652,Orphanet:93623 1 1 1.0000 condition_record_support_limited 20 0 0 Dent_disease_type_2 1 low_record_burden_interpretation_limited low_record_burden_gene INPP4A medgen_c0547030 visual disturbance MedGen:C0547030 1 1 1.0000 condition_record_support_limited 20 0 1 visual_disturbance 8 low_record_burden_interpretation_limited low_record_burden_gene INPP4A human_phenotype_ontology_hp_0000767_human_phenotype_ontology_hp_0006613_human_phenotype_ontology_hp_0006617_mondo_mondo_0008213_medgen_c2051831_omim_169300 Pectus excavatum Human_Phenotype_Ontology:HP:0000767,Human_Phenotype_Ontology:HP:0006613,Human_Phenotype_Ontology:HP:0006617,MONDO:MONDO:0008213,MedGen:C2051831,OMIM:169300 1 1 1.0000 condition_record_support_limited 20 0 1 Pectus_excavatum 8 low_record_burden_interpretation_limited low_record_burden_gene INPP4A human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 1.0000 condition_record_support_limited 20 0 1 Nystagmus 8 low_record_burden_interpretation_limited low_record_burden_gene INPP4A human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 8 low_record_burden_interpretation_limited low_record_burden_gene INPP4A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 8 low_record_burden_interpretation_limited low_record_burden_gene INPP4A human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 8 low_record_burden_interpretation_limited low_record_burden_gene INPP4A mondo_mondo_0007485_medgen_c4551974_omim_127550_orphanet_1775 Dyskeratosis congenita, autosomal dominant 1 MONDO:MONDO:0007485,MedGen:C4551974,OMIM:127550,Orphanet:1775 1 1 1.0000 condition_record_support_limited 20 0 0 Dyskeratosis_congenita,_autosomal_dominant_1 8 low_record_burden_interpretation_limited low_record_burden_gene INF2 human_phenotype_ontology_hp_0000083_human_phenotype_ontology_hp_0000084_human_phenotype_ontology_hp_0004723_medgen_c1565489 Renal insufficiency Human_Phenotype_Ontology:HP:0000083,Human_Phenotype_Ontology:HP:0000084,Human_Phenotype_Ontology:HP:0004723,MedGen:C1565489 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_insufficiency 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INF2 human_phenotype_ontology_hp_0000093_mondo_mondo_0003634_medgen_c0033687 Proteinuria Human_Phenotype_Ontology:HP:0000093,MONDO:MONDO:0003634,MedGen:C0033687 1 1 1.0000 condition_record_support_limited 20 0 1 Proteinuria 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INF2 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INF2 human_phenotype_ontology_hp_0000822_human_phenotype_ontology_hp_0004949_human_phenotype_ontology_hp_0005126_mondo_mondo_0005044_medgen_c0020538 Hypertensive disorder Human_Phenotype_Ontology:HP:0000822,Human_Phenotype_Ontology:HP:0004949,Human_Phenotype_Ontology:HP:0005126,MONDO:MONDO:0005044,MedGen:C0020538 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertensive_disorder 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture INCENP human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Nephronophthisis Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 1 1 1.0000 condition_record_support_limited 20 0 0 Nephronophthisis 1 low_record_burden_interpretation_limited low_record_burden_gene INA human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 1 low_record_burden_interpretation_limited low_record_burden_gene IMPG2 mondo_mondo_0024561_medgen_cn295869_omim_608161 Vitelliform macular dystrophy 3 MONDO:MONDO:0024561,MedGen:CN295869,OMIM:608161 1 1 1.0000 condition_record_support_limited 20 0 0 Vitelliform_macular_dystrophy_3 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPG2 mondo_mondo_0007931_medgen_c2745945_omim_153700_orphanet_1243 Vitelliform macular dystrophy 2 MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700,Orphanet:1243 1 1 1.0000 condition_record_support_limited 20 0 0 Vitelliform_macular_dystrophy_2 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPG2 human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 1.0000 condition_record_support_limited 20 0 1 Macular_dystrophy 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPG2 mondo_mondo_0700241_medgen_cn375916 IMPG2-related recessive retinopathy MONDO:MONDO:0700241,MedGen:CN375916 1 1 1.0000 condition_record_support_limited 20 0 1 IMPG2-related_recessive_retinopathy 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPG2 impg2_related_disorder IMPG2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 IMPG2-related_disorder 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPG2 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPG2 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 1.0000 condition_record_support_limited 20 0 1 Bardet-Biedl_syndrome 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPG2 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_eye 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPG1 mondo_mondo_0007931_medgen_c2745945_omim_153700_orphanet_1243 Vitelliform macular dystrophy 2 MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700,Orphanet:1243 1 1 1.0000 condition_record_support_limited 20 0 0 Vitelliform_macular_dystrophy_2 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPG1 mondo_mondo_0957048_medgen_c5681367_orphanet_519302 Isolated macular dystrophy MONDO:MONDO:0957048,MedGen:C5681367,Orphanet:519302 1 1 1.0000 condition_record_support_limited 20 0 1 Isolated_macular_dystrophy 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPG1 medgen_c1135954 Incidental Discovery MedGen:C1135954 1 1 1.0000 condition_record_support_limited 20 0 1 Incidental_Discovery 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPG1 impg1_related_disorder IMPG1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 IMPG1-related_disorder 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IMPDH1 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ILDR2 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 1 low_record_burden_interpretation_limited low_record_burden_gene ILDR1 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ILDR1 medgen_c0011053 Deafness MedGen:C0011053 1 1 1.0000 condition_record_support_limited 20 0 1 Deafness 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ILDR1 human_phenotype_ontology_hp_0004455_human_phenotype_ontology_hp_0004457_human_phenotype_ontology_hp_0008520_human_phenotype_ontology_hp_0008521_human_phenotype_ontology_hp_0008527_human_phenotype_ontology_hp_0008540_human_phenotype_ontology_hp_0008543_human_phenotype_ontology_hp_0008545_human_phenotype_ontology_hp_0008546_human_phenotype_ontology_hp_0008556_human_phenotype_ontology_hp_0008558_human_phenotype_ontology_hp_0008561_human_phenotype_ontology_hp_0008571_human_phenotype_ontology_hp_0008603_human_phenotype_ontology_hp_0008612_human_phenotype_ontology_hp_0008620_medgen_c1865866 Congenital sensorineural hearing impairment Human_Phenotype_Ontology:HP:0004455,Human_Phenotype_Ontology:HP:0004457,Human_Phenotype_Ontology:HP:0008520,Human_Phenotype_Ontology:HP:0008521,Human_Phenotype_Ontology:HP:0008527,Human_Phenotype_Ontology:HP:0008540,Human_Phenotype_Ontology:HP:0008543,Human_Phenotype_Ontology:HP:0008545,Human_Phenotype_Ontology:HP:0008546,Human_Phenotype_Ontology:HP:0008556,Human_Phenotype_Ontology:HP:0008558,Human_Phenotype_Ontology:HP:0008561,Human_Phenotype_Ontology:HP:0008571,Human_Phenotype_Ontology:HP:0008603,Human_Phenotype_Ontology:HP:0008612,Human_Phenotype_Ontology:HP:0008620,MedGen:C1865866 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_sensorineural_hearing_impairment 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL7R mondo_mondo_0015701_medgen_c5679577_orphanet_169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency MONDO:MONDO:0015701,MedGen:C5679577,Orphanet:169154 1 1 1.0000 condition_record_support_limited 20 0 1 T-B+_severe_combined_immunodeficiency_due_to_IL-7Ralpha_deficiency 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL7R mondo_mondo_0012957_medgen_c2675477_omim_612595 Multiple sclerosis, susceptibility to, 3 MONDO:MONDO:0012957,MedGen:C2675477,OMIM:612595 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_sclerosis,_susceptibility_to,_3 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL7R il7r_related_disorder IL7R-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 IL7R-related_disorder 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL7R mondo_mondo_0011338_medgen_c2700553_omim_603554_orphanet_39041 Histiocytic medullary reticulosis MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554,Orphanet:39041 1 1 1.0000 condition_record_support_limited 20 0 1 Histiocytic_medullary_reticulosis 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL7R human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Breast neoplasm Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 1 1 1.0000 condition_record_support_limited 20 0 0 Breast_neoplasm 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL6ST il6st_related_disorder IL6ST-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 IL6ST-related_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL6ST mondo_mondo_0013387_medgen_c3150986_omim_613720_orphanet_439218 Developmental and epileptic encephalopathy, 7 MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720,Orphanet:439218 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_7 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL6R condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene IL4I1 mondo_mondo_0015518_medgen_c0795996_orphanet_1576 Infantile bilateral striatal necrosis MONDO:MONDO:0015518,MedGen:C0795996,Orphanet:1576 1 1 1.0000 condition_record_support_limited 20 0 0 Infantile_bilateral_striatal_necrosis 1 low_record_burden_interpretation_limited low_record_burden_gene IL37 mondo_mondo_0005265_medgen_c0021390_omim_ps266600_orphanet_104012 Inflammatory bowel disease MONDO:MONDO:0005265,MedGen:C0021390,OMIM:PS266600,Orphanet:104012 1 1 1.0000 condition_record_support_limited 20 0 0 Inflammatory_bowel_disease 1 low_record_burden_interpretation_limited low_record_burden_gene IL36RN il36rn_related_disorder IL36RN-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 IL36RN-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene IL36RN mondo_mondo_0019751_medgen_c3890737_orphanet_93665 Autoinflammatory syndrome MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 1 1 1.0000 condition_record_support_limited 20 0 1 Autoinflammatory_syndrome 13 low_record_burden_interpretation_limited low_record_burden_gene IL31RA mondo_mondo_0013502_medgen_c3151404_omim_613955_orphanet_353220 Amyloidosis, primary localized cutaneous, 2 MONDO:MONDO:0013502,MedGen:C3151404,OMIM:613955,Orphanet:353220 1 1 1.0000 condition_record_support_limited 20 0 0 Amyloidosis,_primary_localized_cutaneous,_2 1 low_record_burden_interpretation_limited low_record_burden_gene IL2RG human_phenotype_ontology_hp_0005387_mondo_mondo_0015131_medgen_c2711630_orphanet_101972 Combined immunodeficiency Human_Phenotype_Ontology:HP:0005387,MONDO:MONDO:0015131,MedGen:C2711630,Orphanet:101972 1 1 1.0000 condition_record_support_limited 20 0 0 Combined_immunodeficiency 165 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL2RB human_phenotype_ontology_hp_0000955_human_phenotype_ontology_hp_0007547_human_phenotype_ontology_hp_0008064_mondo_mondo_0019269_medgen_c0020757_orphanet_79354 Ichthyosis Human_Phenotype_Ontology:HP:0000955,Human_Phenotype_Ontology:HP:0007547,Human_Phenotype_Ontology:HP:0008064,MONDO:MONDO:0019269,MedGen:C0020757,Orphanet:79354 1 1 1.0000 condition_record_support_limited 20 0 0 Ichthyosis 14 low_record_burden_interpretation_limited low_record_burden_gene IL2RA mondo_mondo_0011168_medgen_c1866040_omim_601942 Type 1 diabetes mellitus 10 MONDO:MONDO:0011168,MedGen:C1866040,OMIM:601942 1 1 1.0000 condition_record_support_limited 20 0 1 Type_1_diabetes_mellitus_10 15 low_record_burden_interpretation_limited low_record_burden_gene IL21 mondo_mondo_0014338_medgen_c5567788_omim_615767_orphanet_238569_orphanet_477661 IL21-related infantile inflammatory bowel disease MONDO:MONDO:0014338,MedGen:C5567788,OMIM:615767,Orphanet:238569,Orphanet:477661 1 1 1.0000 condition_record_support_limited 20 0 0 IL21-related_infantile_inflammatory_bowel_disease 1 low_record_burden_interpretation_limited low_record_burden_gene IL1RN mondo_mondo_0012966_medgen_c2675112_omim_612628 Microvascular complications of diabetes, susceptibility to, 4 MONDO:MONDO:0012966,MedGen:C2675112,OMIM:612628 1 1 1.0000 condition_record_support_limited 20 0 1 Microvascular_complications_of_diabetes,_susceptibility_to,_4 13 low_record_burden_interpretation_limited low_record_burden_gene IL1RN mondo_mondo_0800497_medgen_c5561926_omim_178500_orphanet_2032_orphanet_79126 Interstitial lung disease 2 MONDO:MONDO:0800497,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126 1 1 1.0000 condition_record_support_limited 20 0 1 Interstitial_lung_disease_2 13 low_record_burden_interpretation_limited low_record_burden_gene IL1RN il1rn_related_disorder IL1RN-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 IL1RN-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene IL1RN gastric_cancer_susceptibility_after_h_pylori_infection Gastric cancer susceptibility after h. pylori infection . 1 1 1.0000 condition_record_support_limited 20 0 1 Gastric_cancer_susceptibility_after_h._pylori_infection 13 low_record_burden_interpretation_limited low_record_burden_gene IL1RN mondo_mondo_0019751_medgen_c3890737_orphanet_93665 Autoinflammatory syndrome MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 1 1 1.0000 condition_record_support_limited 20 0 0 Autoinflammatory_syndrome 13 low_record_burden_interpretation_limited low_record_burden_gene IL1RAPL1 il1rapl1_related_disorder IL1RAPL1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 IL1RAPL1-related_disorder 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL1R1 mondo_mondo_0958177_medgen_cn376807_omim_259680 Chronic recurrent multifocal osteomyelitis 3 MONDO:MONDO:0958177,MedGen:CN376807,OMIM:259680 1 1 1.0000 condition_record_support_limited 20 0 0 Chronic_recurrent_multifocal_osteomyelitis_3 1 low_record_burden_interpretation_limited low_record_burden_gene IL19 medgen_c1736175 Rheumatoid arthritis, progression of MedGen:C1736175 1 1 1.0000 condition_record_support_limited 20 0 0 Rheumatoid_arthritis,_progression_of 2 low_record_burden_interpretation_limited low_record_burden_gene IL19 mondo_mondo_0012358_medgen_c1835932_omim_609888_orphanet_548 Leprosy, susceptibility to, 1 MONDO:MONDO:0012358,MedGen:C1835932,OMIM:609888,Orphanet:548 1 1 1.0000 condition_record_support_limited 20 0 1 Leprosy,_susceptibility_to,_1 2 low_record_burden_interpretation_limited low_record_burden_gene IL19 mondo_mondo_0012292_medgen_c1835407_omim_609532 Hepatitis C virus, susceptibility to MONDO:MONDO:0012292,MedGen:C1835407,OMIM:609532 1 1 1.0000 condition_record_support_limited 20 0 1 Hepatitis_C_virus,_susceptibility_to 2 low_record_burden_interpretation_limited low_record_burden_gene IL17RD mondo_mondo_0014103_medgen_c3808975_omim_615267_orphanet_478 Hypogonadotropic hypogonadism 18 with or without anosmia MONDO:MONDO:0014103,MedGen:C3808975,OMIM:615267,Orphanet:478 1 1 1.0000 condition_record_support_limited 20 0 0 Hypogonadotropic_hypogonadism_18_with_or_without_anosmia 5 low_record_burden_interpretation_limited low_record_burden_gene IL17RD human_phenotype_ontology_hp_0000823_human_phenotype_ontology_hp_0008859_human_phenotype_ontology_hp_0010466_human_phenotype_ontology_hp_0010467_medgen_c0034012 Delayed puberty Human_Phenotype_Ontology:HP:0000823,Human_Phenotype_Ontology:HP:0008859,Human_Phenotype_Ontology:HP:0010466,Human_Phenotype_Ontology:HP:0010467,MedGen:C0034012 1 1 1.0000 condition_record_support_limited 20 0 0 Delayed_puberty 5 low_record_burden_interpretation_limited low_record_burden_gene IL17RD human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Cerebral arteriovenous malformation Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_arteriovenous_malformation 5 low_record_burden_interpretation_limited low_record_burden_gene IL17RA mondo_mondo_0005083_medgen_c0033860_omim_ps177900 Psoriasis MONDO:MONDO:0005083,MedGen:C0033860,OMIM:PS177900 1 1 1.0000 condition_record_support_limited 20 0 0 Psoriasis 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL17RA human_phenotype_ontology_hp_0002728_human_phenotype_ontology_hp_0005392_mondo_mondo_0015279_medgen_c0006845_omim_ps114580_orphanet_1334 Chronic mucocutaneous candidiasis Human_Phenotype_Ontology:HP:0002728,Human_Phenotype_Ontology:HP:0005392,MONDO:MONDO:0015279,MedGen:C0006845,OMIM:PS114580,Orphanet:1334 1 1 1.0000 condition_record_support_limited 20 0 0 Chronic_mucocutaneous_candidiasis 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL12RB1 medgen_c1834752_omim_607948 Mycobacterium tuberculosis, susceptibility to MedGen:C1834752,OMIM:607948 1 1 1.0000 condition_record_support_limited 20 0 1 Mycobacterium_tuberculosis,_susceptibility_to 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL12RB1 mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_Immunodeficiency_Diseases 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL12B il12b_related_disorder IL12B-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 IL12B-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene IL11RA human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 1.0000 condition_record_support_limited 20 0 0 Craniosynostosis_syndrome 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL10RB susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 19 low_record_burden_interpretation_limited low_record_burden_gene IL10RB mondo_mondo_0012488_medgen_c1864880_omim_610424 Hepatitis B virus, susceptibility to MONDO:MONDO:0012488,MedGen:C1864880,OMIM:610424 1 1 1.0000 condition_record_support_limited 20 0 1 Hepatitis_B_virus,_susceptibility_to 19 low_record_burden_interpretation_limited low_record_burden_gene IL10RA condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL10RA il10ra_related_disorder IL10RA-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 IL10RA-related_disorder 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IL10 medgen_c1736175 Rheumatoid arthritis, progression of MedGen:C1736175 1 1 1.0000 condition_record_support_limited 20 0 0 Rheumatoid_arthritis,_progression_of 2 low_record_burden_interpretation_limited low_record_burden_gene IL10 mondo_mondo_0012358_medgen_c1835932_omim_609888_orphanet_548 Leprosy, susceptibility to, 1 MONDO:MONDO:0012358,MedGen:C1835932,OMIM:609888,Orphanet:548 1 1 1.0000 condition_record_support_limited 20 0 1 Leprosy,_susceptibility_to,_1 2 low_record_burden_interpretation_limited low_record_burden_gene IL10 mondo_mondo_0012292_medgen_c1835407_omim_609532 Hepatitis C virus, susceptibility to MONDO:MONDO:0012292,MedGen:C1835407,OMIM:609532 1 1 1.0000 condition_record_support_limited 20 0 1 Hepatitis_C_virus,_susceptibility_to 2 low_record_burden_interpretation_limited low_record_burden_gene IKZF1 human_phenotype_ontology_hp_0002721_human_phenotype_ontology_hp_0005362_human_phenotype_ontology_hp_0005371_mondo_mondo_0021094_medgen_c0021051_omim_ps300755 Immunodeficiency Human_Phenotype_Ontology:HP:0002721,Human_Phenotype_Ontology:HP:0005362,Human_Phenotype_Ontology:HP:0005371,MONDO:MONDO:0021094,MedGen:C0021051,OMIM:PS300755 1 1 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IKBKG nemo_deleted_exon_5_autoinflammatory_syndrome_nemo_ndas NEMO deleted exon 5-autoinflammatory syndrome (NEMO-NDAS) . 1 1 1.0000 condition_record_support_limited 20 0 0 NEMO_deleted_exon_5-autoinflammatory_syndrome_(NEMO-NDAS) 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IKBKG mondo_mondo_0021024_medgen_c1970028_omim_611162_orphanet_673 Malaria, susceptibility to MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673 1 1 1.0000 condition_record_support_limited 20 0 1 Malaria,_susceptibility_to 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IKBKG immunodeficiency_33_male_restricted IMMUNODEFICIENCY 33, MALE-RESTRICTED . 1 1 1.0000 condition_record_support_limited 20 0 1 IMMUNODEFICIENCY_33,_MALE-RESTRICTED 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IKBKG ikbkg_related_disorder IKBKG-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 IKBKG-related_disorder 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IKBKG mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 1 Hypercholesterolemia,_familial,_1 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IKBKG mondo_mondo_0005775_medgen_c2939465 G6PD deficiency MONDO:MONDO:0005775,MedGen:C2939465 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_deficiency 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IKBKG g6pd_gaohe G6PD GAOHE . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_GAOHE 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IKBKG medgen_c4229399 Early-onset coronary artery disease MedGen:C4229399 1 1 1.0000 condition_record_support_limited 20 0 1 Early-onset_coronary_artery_disease 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IHH ihh_related_disorder IHH-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 IHH-related_disorder 48 compact_adjacent_exon_block_opportunity local_compact_architecture IHH mondo_mondo_0007723_medgen_c3888239_omim_142623_orphanet_388 Hirschsprung disease, susceptibility to, 1 MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388 1 1 1.0000 condition_record_support_limited 20 0 1 Hirschsprung_disease,_susceptibility_to,_1 48 compact_adjacent_exon_block_opportunity local_compact_architecture IHH mondo_mondo_0011275_medgen_c1864356_omim_602875_orphanet_40 Acromesomelic dysplasia 1, Maroteaux type MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875,Orphanet:40 1 1 1.0000 condition_record_support_limited 20 0 0 Acromesomelic_dysplasia_1,_Maroteaux_type 48 compact_adjacent_exon_block_opportunity local_compact_architecture IGSF1 pituitary_hormone_deficiency Pituitary hormone deficiency . 1 1 1.0000 condition_record_support_limited 20 0 0 Pituitary_hormone_deficiency 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 human_phenotype_ontology_hp_0002789_human_phenotype_ontology_hp_0002874_human_phenotype_ontology_hp_0004346_medgen_c0231835 Tachypnea Human_Phenotype_Ontology:HP:0002789,Human_Phenotype_Ontology:HP:0002874,Human_Phenotype_Ontology:HP:0004346,MedGen:C0231835 1 1 1.0000 condition_record_support_limited 20 0 1 Tachypnea 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 human_phenotype_ontology_hp_0002347_human_phenotype_ontology_hp_0006829_medgen_c1839630 Severe muscular hypotonia Human_Phenotype_Ontology:HP:0002347,Human_Phenotype_Ontology:HP:0006829,MedGen:C1839630 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_muscular_hypotonia 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 human_phenotype_ontology_hp_0002098_human_phenotype_ontology_hp_0002880_medgen_c0476273 Respiratory distress Human_Phenotype_Ontology:HP:0002098,Human_Phenotype_Ontology:HP:0002880,MedGen:C0476273 1 1 1.0000 condition_record_support_limited 20 0 1 Respiratory_distress 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 human_phenotype_ontology_hp_0000508_mondo_mondo_0000728_medgen_c0005745 Ptosis Human_Phenotype_Ontology:HP:0000508,MONDO:MONDO:0000728,MedGen:C0005745 1 1 1.0000 condition_record_support_limited 20 0 1 Ptosis 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 human_phenotype_ontology_hp_0003323_human_phenotype_ontology_hp_0009032_medgen_c0240421 Progressive muscle weakness Human_Phenotype_Ontology:HP:0003323,Human_Phenotype_Ontology:HP:0009032,MedGen:C0240421 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_muscle_weakness 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 mondo_mondo_0008451_medgen_c1866784_omim_182960_orphanet_139518 Neuronopathy, distal hereditary motor, autosomal dominant 1 MONDO:MONDO:0008451,MedGen:C1866784,OMIM:182960,Orphanet:139518 1 1 1.0000 condition_record_support_limited 20 0 1 Neuronopathy,_distal_hereditary_motor,_autosomal_dominant_1 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 human_phenotype_ontology_hp_0002065_human_phenotype_ontology_hp_0002477_human_phenotype_ontology_hp_0007340_human_phenotype_ontology_hp_0009047_medgen_c1836296 Lower limb muscle weakness Human_Phenotype_Ontology:HP:0002065,Human_Phenotype_Ontology:HP:0002477,Human_Phenotype_Ontology:HP:0007340,Human_Phenotype_Ontology:HP:0009047,MedGen:C1836296 1 1 1.0000 condition_record_support_limited 20 0 1 Lower_limb_muscle_weakness 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 human_phenotype_ontology_hp_0002540_medgen_c0560046 Inability to walk Human_Phenotype_Ontology:HP:0002540,MedGen:C0560046 1 1 1.0000 condition_record_support_limited 20 0 1 Inability_to_walk 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 human_phenotype_ontology_hp_0001282_human_phenotype_ontology_hp_0001347_human_phenotype_ontology_hp_0006820_human_phenotype_ontology_hp_0007184_human_phenotype_ontology_hp_0007318_mondo_mondo_0007774_medgen_c0151889_omim_145290 Hyperreflexia Human_Phenotype_Ontology:HP:0001282,Human_Phenotype_Ontology:HP:0001347,Human_Phenotype_Ontology:HP:0006820,Human_Phenotype_Ontology:HP:0007184,Human_Phenotype_Ontology:HP:0007318,MONDO:MONDO:0007774,MedGen:C0151889,OMIM:145290 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperreflexia 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 human_phenotype_ontology_hp_0001765_medgen_c1136179 Hammertoe Human_Phenotype_Ontology:HP:0001765,MedGen:C1136179 1 1 1.0000 condition_record_support_limited 20 0 1 Hammertoe 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 human_phenotype_ontology_hp_0002355_human_phenotype_ontology_hp_0007101_human_phenotype_ontology_hp_0009030_medgen_c0311394 Difficulty walking Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394 1 1 1.0000 condition_record_support_limited 20 0 1 Difficulty_walking 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGHMBP2 human_phenotype_ontology_hp_0002169_medgen_c0009024 Clonus Human_Phenotype_Ontology:HP:0002169,MedGen:C0009024 1 1 1.0000 condition_record_support_limited 20 0 1 Clonus 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGFBP7 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene IGFBP7 medgen_c4016816 Retinal arterial macroaneurysm with supravascular pulmonic stenosis MedGen:C4016816 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_arterial_macroaneurysm_with_supravascular_pulmonic_stenosis 2 low_record_burden_interpretation_limited low_record_burden_gene IGFBP4 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 1 low_record_burden_interpretation_limited low_record_burden_gene IGF2R mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 4 low_record_burden_interpretation_limited low_record_burden_gene IGF2 mondo_mondo_0008679_medgen_cn033288_omim_194070_orphanet_654 Wilms tumor 1 MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070,Orphanet:654 1 1 1.0000 condition_record_support_limited 20 0 1 Wilms_tumor_1 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGF2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGF2 igf2_related_disorder IGF2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 IGF2-related_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGF2 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGF2 mondo_mondo_0007534_medgen_c0004903_omim_130650_orphanet_116 Beckwith-Wiedemann syndrome MONDO:MONDO:0007534,MedGen:C0004903,OMIM:130650,Orphanet:116 1 1 1.0000 condition_record_support_limited 20 0 1 Beckwith-Wiedemann_syndrome 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGF1R mondo_mondo_0016996_medgen_c4509932_orphanet_263665 NK-cell enteropathy MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665 1 1 1.0000 condition_record_support_limited 20 0 0 NK-cell_enteropathy 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGF1R human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IGBP1 mondo_mondo_0010333_medgen_c1845446_omim_300472_orphanet_52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome MONDO:MONDO:0010333,MedGen:C1845446,OMIM:300472,Orphanet:52055 1 1 1.0000 condition_record_support_limited 20 0 0 Corpus_callosum_agenesis-intellectual_disability-coloboma-micrognathia_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene IFT81 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT81 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT81 mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 Jeune thoracic dystrophy MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 1 1 1.0000 condition_record_support_limited 20 0 1 Jeune_thoracic_dystrophy 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT81 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT80 mondo_mondo_0010024_medgen_c0432198_omim_269860_orphanet_93268 Type IV short rib polydactyly syndrome MONDO:MONDO:0010024,MedGen:C0432198,OMIM:269860,Orphanet:93268 1 1 1.0000 condition_record_support_limited 20 0 0 Type_IV_short_rib_polydactyly_syndrome 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT74 mondo_mondo_0030463_medgen_c5562008_omim_619585 Spermatogenic failure 58 MONDO:MONDO:0030463,MedGen:C5562008,OMIM:619585 1 1 1.0000 condition_record_support_limited 20 0 1 Spermatogenic_failure_58 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT74 multiple_morphological_anomalies_of_sperm_flagella_mmaf Multiple Morphological Anomalies of Sperm Flagella (MMAF) . 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_Morphological_Anomalies_of_Sperm_Flagella_(MMAF) 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT74 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 1.0000 condition_record_support_limited 20 0 1 Bardet-Biedl_syndrome 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT56 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene IFT56 human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Hydrocephalus Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 1.0000 condition_record_support_limited 20 0 1 Hydrocephalus 4 low_record_burden_interpretation_limited low_record_burden_gene IFT56 mondo_mondo_0010913_medgen_c0162510_omim_600643_orphanet_53035 Caroli disease MONDO:MONDO:0010913,MedGen:C0162510,OMIM:600643,Orphanet:53035 1 1 1.0000 condition_record_support_limited 20 0 1 Caroli_disease 4 low_record_burden_interpretation_limited low_record_burden_gene IFT172 mondo_mondo_0009894_medgen_c0024507_omim_263520 Short-rib thoracic dysplasia 6 with or without polydactyly MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520 1 1 1.0000 condition_record_support_limited 20 0 1 Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly 157 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture IFT172 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 157 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture IFT172 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_disorder 157 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture IFT172 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 1 1 1.0000 condition_record_support_limited 20 0 1 Joubert_syndrome 157 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture IFT172 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 1.0000 condition_record_support_limited 20 0 0 Bardet-Biedl_syndrome 157 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture IFT140 human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Nephronophthisis Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 1 1 1.0000 condition_record_support_limited 20 0 1 Nephronophthisis 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT140 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT140 ift140_associated_disorder IFT140-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 IFT140-associated_disorder 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT140 mondo_mondo_0008831_medgen_c4551856_omim_208500_orphanet_474 Asphyxiating thoracic dystrophy 1 MONDO:MONDO:0008831,MedGen:C4551856,OMIM:208500,Orphanet:474 1 1 1.0000 condition_record_support_limited 20 0 1 Asphyxiating_thoracic_dystrophy_1 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT122 human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Rod-cone dystrophy Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 1 1 1.0000 condition_record_support_limited 20 0 0 Rod-cone_dystrophy 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFT122 mondo_mondo_0009032_medgen_c4551571_omim_ps218330_orphanet_1515 Cranioectodermal dysplasia MONDO:MONDO:0009032,MedGen:C4551571,OMIM:PS218330,Orphanet:1515 1 1 1.0000 condition_record_support_limited 20 0 1 Cranioectodermal_dysplasia 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFNGR1 medgen_c1112429 Interferon gamma receptor deficiency MedGen:C1112429 1 1 1.0000 condition_record_support_limited 20 0 1 Interferon_gamma_receptor_deficiency 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFNGR1 mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_Immunodeficiency_Diseases 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFNGR1 medgen_c4288927 IFN-gamma receptor 1 deficiency MedGen:C4288927 1 1 1.0000 condition_record_support_limited 20 0 1 IFN-gamma_receptor_1_deficiency 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFNGR1 mondo_mondo_0012488_medgen_c1864880_omim_610424 Hepatitis B virus, susceptibility to MONDO:MONDO:0012488,MedGen:C1864880,OMIM:610424 1 1 1.0000 condition_record_support_limited 20 0 1 Hepatitis_B_virus,_susceptibility_to 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFNGR1 mondo_mondo_0010853_medgen_c1838332_omim_600263 Helicobacter pylori infection, susceptibility to MONDO:MONDO:0010853,MedGen:C1838332,OMIM:600263 1 1 1.0000 condition_record_support_limited 20 0 1 Helicobacter_pylori_infection,_susceptibility_to 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFNG mondo_mondo_0033541_medgen_c5436498_omim_618963_orphanet_699618 Immunodeficiency 69 MONDO:MONDO:0033541,MedGen:C5436498,OMIM:618963,Orphanet:699618 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_69 2 low_record_burden_interpretation_limited low_record_burden_gene IFNG medgen_c4016227 Acquired immunodeficiency syndrome, rapid progression to MedGen:C4016227 1 1 1.0000 condition_record_support_limited 20 0 0 Acquired_immunodeficiency_syndrome,_rapid_progression_to 2 low_record_burden_interpretation_limited low_record_burden_gene IFITM5 mondo_mondo_0008159_medgen_c0029458 Postmenopausal osteoporosis MONDO:MONDO:0008159,MedGen:C0029458 1 1 1.0000 condition_record_support_limited 20 0 1 Postmenopausal_osteoporosis 3 low_record_burden_interpretation_limited low_record_burden_gene IFITM5 mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 Osteogenesis imperfecta MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 1 1 1.0000 condition_record_support_limited 20 0 1 Osteogenesis_imperfecta 3 low_record_burden_interpretation_limited low_record_burden_gene IFIH1 human_phenotype_ontology_hp_0001264_medgen_c0023882 Spastic diplegia Human_Phenotype_Ontology:HP:0001264,MedGen:C0023882 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_diplegia 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFIH1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFIH1 human_phenotype_ontology_hp_0001319_human_phenotype_ontology_hp_0008976_medgen_c2267233 Neonatal hypotonia Human_Phenotype_Ontology:HP:0001319,Human_Phenotype_Ontology:HP:0008976,MedGen:C2267233 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_hypotonia 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFIH1 medgen_c1135954 Incidental Discovery MedGen:C1135954 1 1 1.0000 condition_record_support_limited 20 0 1 Incidental_Discovery 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFIH1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFIH1 mondo_mondo_0700262_medgen_cn377548 IFIH1-related type 1 interferonopathy MONDO:MONDO:0700262,MedGen:CN377548 1 1 1.0000 condition_record_support_limited 20 0 1 IFIH1-related_type_1_interferonopathy 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFIH1 human_phenotype_ontology_hp_0001282_human_phenotype_ontology_hp_0001347_human_phenotype_ontology_hp_0006820_human_phenotype_ontology_hp_0007184_human_phenotype_ontology_hp_0007318_mondo_mondo_0007774_medgen_c0151889_omim_145290 Hyperreflexia Human_Phenotype_Ontology:HP:0001282,Human_Phenotype_Ontology:HP:0001347,Human_Phenotype_Ontology:HP:0006820,Human_Phenotype_Ontology:HP:0007184,Human_Phenotype_Ontology:HP:0007318,MONDO:MONDO:0007774,MedGen:C0151889,OMIM:145290 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperreflexia 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFIH1 medgen_c5680530_orphanet_183710 Hereditary predisposition to infections MedGen:C5680530,Orphanet:183710 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_predisposition_to_infections 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFIH1 human_phenotype_ontology_hp_0002376_human_phenotype_ontology_hp_0002471_human_phenotype_ontology_hp_0002489_human_phenotype_ontology_hp_0006797_human_phenotype_ontology_hp_0006828_human_phenotype_ontology_hp_0006854_human_phenotype_ontology_hp_0007037_human_phenotype_ontology_hp_0007242_human_phenotype_ontology_hp_0007247_medgen_c1836830 Developmental regression Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_regression 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFIH1 human_phenotype_ontology_hp_0002169_medgen_c0009024 Clonus Human_Phenotype_Ontology:HP:0002169,MedGen:C0009024 1 1 1.0000 condition_record_support_limited 20 0 1 Clonus 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFIH1 mondo_mondo_0018866_medgen_c0393591_omim_ps225750_orphanet_51 Aicardi Goutieres syndrome MONDO:MONDO:0018866,MedGen:C0393591,OMIM:PS225750,Orphanet:51 1 1 1.0000 condition_record_support_limited 20 0 0 Aicardi_Goutieres_syndrome 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFIH1 human_phenotype_ontology_hp_0002127_medgen_c4025723 Abnormal upper motor neuron morphology Human_Phenotype_Ontology:HP:0002127,MedGen:C4025723 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_upper_motor_neuron_morphology 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFIH1 human_phenotype_ontology_hp_0002500_human_phenotype_ontology_hp_0200100_medgen_c0948163 Abnormal cerebral white matter morphology Human_Phenotype_Ontology:HP:0002500,Human_Phenotype_Ontology:HP:0200100,MedGen:C0948163 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cerebral_white_matter_morphology 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IFIH1 human_phenotype_ontology_hp_0002134_human_phenotype_ontology_hp_0006952_human_phenotype_ontology_hp_0007257_mondo_mondo_0003996_medgen_c4520981 Abnormal basal ganglia morphology Human_Phenotype_Ontology:HP:0002134,Human_Phenotype_Ontology:HP:0006952,Human_Phenotype_Ontology:HP:0007257,MONDO:MONDO:0003996,MedGen:C4520981 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_basal_ganglia_morphology 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IER3IP1 mondo_mondo_0031481_medgen_cn305347_omim_614231 Microcephaly, epilepsy, and diabetes syndrome 1 MONDO:MONDO:0031481,MedGen:CN305347,OMIM:614231 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly,_epilepsy,_and_diabetes_syndrome_1 1 low_record_burden_interpretation_limited low_record_burden_gene IER3IP1 mondo_mondo_0100328_medgen_c3280240_omim_ps614231_orphanet_306558 Microcephaly, epilepsy, and diabetes syndrome MONDO:MONDO:0100328,MedGen:C3280240,OMIM:PS614231,Orphanet:306558 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly,_epilepsy,_and_diabetes_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene IDUA human_phenotype_ontology_hp_0008672_human_phenotype_ontology_hp_0008700_human_phenotype_ontology_hp_0008725_mondo_mondo_0957318_medgen_c1833683_omim_ps167030 Nephrolithiasis, calcium oxalate Human_Phenotype_Ontology:HP:0008672,Human_Phenotype_Ontology:HP:0008700,Human_Phenotype_Ontology:HP:0008725,MONDO:MONDO:0957318,MedGen:C1833683,OMIM:PS167030 1 1 1.0000 condition_record_support_limited 20 0 1 Nephrolithiasis,_calcium_oxalate 419 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDUA mondo_mondo_0009659_medgen_c0086651_omim_253000_orphanet_309297_orphanet_582 Mucopolysaccharidosis, MPS-IV-A MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000,Orphanet:309297,Orphanet:582 1 1 1.0000 condition_record_support_limited 20 0 1 Mucopolysaccharidosis,_MPS-IV-A 419 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDUA mondo_mondo_0010674_medgen_c0026705_omim_309900_orphanet_580_orphanet_79388 Mucopolysaccharidosis, MPS-II MONDO:MONDO:0010674,MedGen:C0026705,OMIM:309900,Orphanet:580,Orphanet:79388 1 1 1.0000 condition_record_support_limited 20 0 1 Mucopolysaccharidosis,_MPS-II 419 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDUA mondo_mondo_0019249_mesh_d009083_medgen_c0026703_omim_ps607014_orphanet_79213 Mucopolysaccharidosis MONDO:MONDO:0019249,MeSH:D009083,MedGen:C0026703,OMIM:PS607014,Orphanet:79213 1 1 1.0000 condition_record_support_limited 20 0 1 Mucopolysaccharidosis 419 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDUA idua_related_core_myopathy IDUA-related core myopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 IDUA-related_core_myopathy 419 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDUA mondo_mondo_0957268_medgen_c5830511_omim_620372 Hypersulfaturia MONDO:MONDO:0957268,MedGen:C5830511,OMIM:620372 1 1 1.0000 condition_record_support_limited 20 0 1 Hypersulfaturia 419 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDUA mondo_mondo_0009904_medgen_c0268450_omim_263800_orphanet_358 Familial hypokalemia-hypomagnesemia MONDO:MONDO:0009904,MedGen:C0268450,OMIM:263800,Orphanet:358 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_hypokalemia-hypomagnesemia 419 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDUA autosomal_recessive_idua_related_disorders Autosomal recessive IDUA-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_IDUA-related_disorders 419 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDS ids_related_disorder IDS-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 IDS-related_disorder 793 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDH3A human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IDH2 mondo_mondo_0024291_medgen_c0158570 Vascular malformation MONDO:MONDO:0024291,MedGen:C0158570 1 1 1.0000 condition_record_support_limited 20 0 0 Vascular_malformation 6 low_record_burden_interpretation_limited low_record_burden_gene IDH2 mondo_mondo_0013808_medgen_c0024454_omim_614569_orphanet_163634 Maffucci syndrome MONDO:MONDO:0013808,MedGen:C0024454,OMIM:614569,Orphanet:163634 1 1 1.0000 condition_record_support_limited 20 0 0 Maffucci_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene IDH2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 6 low_record_burden_interpretation_limited low_record_burden_gene IDH2 idh2_related_mitochondrial_disease IDH2-related mitochondrial disease . 1 1 1.0000 condition_record_support_limited 20 0 1 IDH2-related_mitochondrial_disease 6 low_record_burden_interpretation_limited low_record_burden_gene IDH1 mondo_mondo_0008179_medgen_c1833661_omim_167400_orphanet_46348 Paroxysmal extreme pain disorder MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400,Orphanet:46348 1 1 1.0000 condition_record_support_limited 20 0 0 Paroxysmal_extreme_pain_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene IDH1 mondo_mondo_0013941_medgen_c3553958_omim_614875_orphanet_99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria MONDO:MONDO:0013941,MedGen:C3553958,OMIM:614875,Orphanet:99646 1 1 1.0000 condition_record_support_limited 20 0 1 Metaphyseal_chondromatosis_with_D-2-hydroxyglutaric_aciduria 6 low_record_burden_interpretation_limited low_record_burden_gene IDH1 metaphyseal_chondromatosis Metaphyseal chondromatosis . 1 1 1.0000 condition_record_support_limited 20 0 1 Metaphyseal_chondromatosis 6 low_record_burden_interpretation_limited low_record_burden_gene IDH1 mondo_mondo_0013808_medgen_c0024454_omim_614569_orphanet_163634 Maffucci syndrome MONDO:MONDO:0013808,MedGen:C0024454,OMIM:614569,Orphanet:163634 1 1 1.0000 condition_record_support_limited 20 0 1 Maffucci_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene IDH1 medgen_c4016231 Glioblastoma multiforme, somatic MedGen:C4016231 1 1 1.0000 condition_record_support_limited 20 0 1 Glioblastoma_multiforme,_somatic 6 low_record_burden_interpretation_limited low_record_burden_gene IDH1 human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Acute myeloid leukemia Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_myeloid_leukemia 6 low_record_burden_interpretation_limited low_record_burden_gene ICOSLG mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 2 low_record_burden_interpretation_limited low_record_burden_gene ICOSLG human_phenotype_ontology_hp_0005387_mondo_mondo_0015131_medgen_c2711630_orphanet_101972 Combined immunodeficiency Human_Phenotype_Ontology:HP:0005387,MONDO:MONDO:0015131,MedGen:C2711630,Orphanet:101972 1 1 1.0000 condition_record_support_limited 20 0 0 Combined_immunodeficiency 2 low_record_burden_interpretation_limited low_record_burden_gene ICOS mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_Immunodeficiency_Diseases 12 low_record_burden_interpretation_limited low_record_burden_gene IBA57 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 38 compact_adjacent_exon_block_opportunity local_compact_architecture IBA57 iba57_related_disorder IBA57-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 IBA57-related_disorder 38 compact_adjacent_exon_block_opportunity local_compact_architecture IARS2 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 1 1 1.0000 condition_record_support_limited 20 0 1 Leigh_syndrome 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IARS2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IARS1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IARS1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture IAH1 mondo_mondo_0017411_medgen_c4751120_omim_ps614328_orphanet_294023 Neonatal inflammatory skin and bowel disease MONDO:MONDO:0017411,MedGen:C4751120,OMIM:PS614328,Orphanet:294023 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_inflammatory_skin_and_bowel_disease 12 low_record_burden_interpretation_limited low_record_burden_gene HYLS1 pus3_related_disorder PUS3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PUS3-related_disorder 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HYLS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HYKK human_phenotype_ontology_hp_0006510_mondo_mondo_0005002_medgen_c0024117_omim_606963 Chronic obstructive pulmonary disease Human_Phenotype_Ontology:HP:0006510,MONDO:MONDO:0005002,MedGen:C0024117,OMIM:606963 1 1 1.0000 condition_record_support_limited 20 0 0 Chronic_obstructive_pulmonary_disease 1 low_record_burden_interpretation_limited low_record_burden_gene HYDIN respiratory_ciliopathies_including_non_cf_bronchiectasis Respiratory ciliopathies including non-CF bronchiectasis . 1 1 1.0000 condition_record_support_limited 20 0 0 Respiratory_ciliopathies_including_non-CF_bronchiectasis 66 large_gene_or_donor_burden_stress_case donor_burden_stress HYDIN human_phenotype_ontology_hp_0012207_medgen_c4082176 Reduced sperm motility Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_sperm_motility 66 large_gene_or_donor_burden_stress_case donor_burden_stress HYDIN hp_0000750_hp_0001263 HP:0000750; HP:0001263 . 1 1 1.0000 condition_record_support_limited 20 0 0 HP:0000750%3B_HP:0001263 66 large_gene_or_donor_burden_stress_case donor_burden_stress HYDIN human_phenotype_ontology_hp_0012864_medgen_c0403824 Abnormal sperm morphology Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_sperm_morphology 66 large_gene_or_donor_burden_stress_case donor_burden_stress HYCC1 mondo_mondo_0010741_medgen_c1970757_omim_313500_orphanet_99798 Tooth agenesis, selective, X-linked, 1 MONDO:MONDO:0010741,MedGen:C1970757,OMIM:313500,Orphanet:99798 1 1 1.0000 condition_record_support_limited 20 0 0 Tooth_agenesis,_selective,_X-linked,_1 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HYAL3 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 1 See_cases 1 low_record_burden_interpretation_limited low_record_burden_gene HYAL3 mondo_mondo_0970998_medgen_c5889721_omim_620830 Auroneurodental syndrome MONDO:MONDO:0970998,MedGen:C5889721,OMIM:620830 1 1 1.0000 condition_record_support_limited 20 0 1 Auroneurodental_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene HYAL2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene HUWE1 mondo_mondo_0100284_medgen_c1136249 X-linked intellectual disability MONDO:MONDO:0100284,MedGen:C1136249 1 1 1.0000 condition_record_support_limited 20 0 1 X-linked_intellectual_disability 75 large_gene_or_donor_burden_stress_case donor_burden_stress HUWE1 mondo_mondo_0010749_medgen_c1839125_omim_314320_orphanet_3369 Trigonocephaly-short stature-developmental delay syndrome MONDO:MONDO:0010749,MedGen:C1839125,OMIM:314320,Orphanet:3369 1 1 1.0000 condition_record_support_limited 20 0 1 Trigonocephaly-short_stature-developmental_delay_syndrome 75 large_gene_or_donor_burden_stress_case donor_burden_stress HUWE1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 75 large_gene_or_donor_burden_stress_case donor_burden_stress HUWE1 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 75 large_gene_or_donor_burden_stress_case donor_burden_stress HUWE1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 75 large_gene_or_donor_burden_stress_case donor_burden_stress HTT mondo_mondo_0054573_medgen_c4479491_omim_617435 Lopes-Maciel-Rodan syndrome MONDO:MONDO:0054573,MedGen:C4479491,OMIM:617435 1 1 1.0000 condition_record_support_limited 20 0 0 Lopes-Maciel-Rodan_syndrome 10 low_record_burden_interpretation_limited low_record_burden_gene HTRA2 mondo_mondo_0012466_medgen_c1853202_omim_610297_orphanet_2828 Parkinson disease 13, autosomal dominant, susceptibility to MONDO:MONDO:0012466,MedGen:C1853202,OMIM:610297,Orphanet:2828 1 1 1.0000 condition_record_support_limited 20 0 1 Parkinson_disease_13,_autosomal_dominant,_susceptibility_to 17 low_record_burden_interpretation_limited low_record_burden_gene HTRA2 htra2_related_disorders HTRA2-Related Disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 HTRA2-Related_Disorders 17 low_record_burden_interpretation_limited low_record_burden_gene HTRA1 mondo_mondo_0004648_mesh_d015140_medgen_c0011269 Vascular dementia MONDO:MONDO:0004648,MeSH:D015140,MedGen:C0011269 1 1 1.0000 condition_record_support_limited 20 0 1 Vascular_dementia 40 compact_adjacent_exon_block_opportunity local_compact_architecture HTRA1 mesh_d059345_medgen_c2733158 Small vessel cerebrovascular disease MeSH:D059345,MedGen:C2733158 1 1 1.0000 condition_record_support_limited 20 0 1 Small_vessel_cerebrovascular_disease 40 compact_adjacent_exon_block_opportunity local_compact_architecture HTRA1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 40 compact_adjacent_exon_block_opportunity local_compact_architecture HTRA1 human_phenotype_ontology_hp_0000751_medgen_c0240735 Personality changes Human_Phenotype_Ontology:HP:0000751,MedGen:C0240735 1 1 1.0000 condition_record_support_limited 20 0 1 Personality_changes 40 compact_adjacent_exon_block_opportunity local_compact_architecture HTRA1 leukodystrophy_adult_onset Leukodystrophy, Adult-Onset MedGen:CN239186 1 1 1.0000 condition_record_support_limited 20 0 0 Leukodystrophy,_Adult-Onset 40 compact_adjacent_exon_block_opportunity local_compact_architecture HTRA1 htra1_related_disorder HTRA1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 HTRA1-related_disorder 40 compact_adjacent_exon_block_opportunity local_compact_architecture HTRA1 human_phenotype_ontology_hp_0002128_human_phenotype_ontology_hp_0002129_human_phenotype_ontology_hp_0002302_human_phenotype_ontology_hp_0002337_human_phenotype_ontology_hp_0002441_human_phenotype_ontology_hp_0006972_human_phenotype_ontology_hp_0006998_human_phenotype_ontology_hp_0007211_human_phenotype_ontology_hp_0100543_medgen_c0338656 Cognitive impairment Human_Phenotype_Ontology:HP:0002128,Human_Phenotype_Ontology:HP:0002129,Human_Phenotype_Ontology:HP:0002302,Human_Phenotype_Ontology:HP:0002337,Human_Phenotype_Ontology:HP:0002441,Human_Phenotype_Ontology:HP:0006972,Human_Phenotype_Ontology:HP:0006998,Human_Phenotype_Ontology:HP:0007211,Human_Phenotype_Ontology:HP:0100543,MedGen:C0338656 1 1 1.0000 condition_record_support_limited 20 0 1 Cognitive_impairment 40 compact_adjacent_exon_block_opportunity local_compact_architecture HTRA1 mondo_mondo_0006693_medgen_c0007774 Cerebral arterial disease MONDO:MONDO:0006693,MedGen:C0007774 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_arterial_disease 40 compact_adjacent_exon_block_opportunity local_compact_architecture HTRA1 mondo_mondo_0012419_medgen_c1857813_omim_610149 Age related macular degeneration 7 MONDO:MONDO:0012419,MedGen:C1857813,OMIM:610149 1 1 1.0000 condition_record_support_limited 20 0 1 Age_related_macular_degeneration_7 40 compact_adjacent_exon_block_opportunity local_compact_architecture HTR2C mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 1 low_record_burden_interpretation_limited low_record_burden_gene HSPG2 autosomal_recessive_hspg2_related_disorders Autosomal recessive HSPG2-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_HSPG2-related_disorders 116 large_gene_or_donor_burden_stress_case donor_burden_stress HSPG2 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 116 large_gene_or_donor_burden_stress_case donor_burden_stress HSPD1 human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Leukodystrophy Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 1.0000 condition_record_support_limited 20 0 1 Leukodystrophy 8 low_record_burden_interpretation_limited low_record_burden_gene HSPD1 hspd1_related_disorder HSPD1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 HSPD1-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene HSPB8 mondo_mondo_0012286_medgen_c2931230_omim_609500 Myopathy, autophagic vacuolar, infantile-onset MONDO:MONDO:0012286,MedGen:C2931230,OMIM:609500 1 1 1.0000 condition_record_support_limited 20 0 1 Myopathy,_autophagic_vacuolar,_infantile-onset 16 low_record_burden_interpretation_limited low_record_burden_gene HSPB8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 16 low_record_burden_interpretation_limited low_record_burden_gene HSPB8 hspb8_related_neuromuscular_disorder HSPB8-related neuromuscular disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 HSPB8-related_neuromuscular_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene HSPB8 mondo_mondo_0018949_medgen_c0751336_omim_ps160500_orphanet_599 Distal myopathy MONDO:MONDO:0018949,MedGen:C0751336,OMIM:PS160500,Orphanet:599 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_myopathy 16 low_record_burden_interpretation_limited low_record_burden_gene HSPB8 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease 16 low_record_burden_interpretation_limited low_record_burden_gene HSPB1 mondo_mondo_0018894_medgen_c0393541_orphanet_53739 Distal spinal muscular atrophy MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_spinal_muscular_atrophy 39 compact_adjacent_exon_block_opportunity local_compact_architecture HSPB1 mondo_mondo_0015352_mesh_c580044_medgen_c3711384_orphanet_139525 Distal hereditary motor neuropathy type 2 MONDO:MONDO:0015352,MeSH:C580044,MedGen:C3711384,Orphanet:139525 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_hereditary_motor_neuropathy_type_2 39 compact_adjacent_exon_block_opportunity local_compact_architecture HSPA9 mondo_mondo_0008422_medgen_c4225428_omim_182170_orphanet_260305 Autosomal dominant sideroblastic anemia MONDO:MONDO:0008422,MedGen:C4225428,OMIM:182170,Orphanet:260305 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_sideroblastic_anemia 6 low_record_burden_interpretation_limited low_record_burden_gene HSF4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 21 compact_adjacent_exon_block_opportunity local_compact_architecture HSF4 human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_cataract 21 compact_adjacent_exon_block_opportunity local_compact_architecture HSD3B7 mondo_mondo_0018841_medgen_c5680095_omim_ps607765_orphanet_485631 Congenital bile acid synthesis defect MONDO:MONDO:0018841,MedGen:C5680095,OMIM:PS607765,Orphanet:485631 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_bile_acid_synthesis_defect 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSD3B2 mondo_mondo_0010384_medgen_c2678098_omim_300633_orphanet_440 Hypospadias 1, X-linked MONDO:MONDO:0010384,MedGen:C2678098,OMIM:300633,Orphanet:440 1 1 1.0000 condition_record_support_limited 20 0 0 Hypospadias_1,_X-linked 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSD17B4 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSD17B4 monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSD17B4 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSD17B3 hsd17b3_related_disorder HSD17B3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 HSD17B3-related_disorder 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HSD17B10 hsd17b10_related_disorder HSD17B10-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 HSD17B10-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene HSD11B2 medgen_c4017360 Apparent mineralocorticoid excess, mild MedGen:C4017360 1 1 1.0000 condition_record_support_limited 20 0 0 Apparent_mineralocorticoid_excess,_mild 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HS6ST2 mondo_mondo_0026724_medgen_c5193010_omim_301025 Paganini-Miozzo syndrome MONDO:MONDO:0026724,MedGen:C5193010,OMIM:301025 1 1 1.0000 condition_record_support_limited 20 0 0 Paganini-Miozzo_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene HS3ST6 mondo_mondo_0030298_medgen_c5543528_omim_619367 Angioedema, hereditary, 8 MONDO:MONDO:0030298,MedGen:C5543528,OMIM:619367 1 1 1.0000 condition_record_support_limited 20 0 0 Angioedema,_hereditary,_8 1 low_record_burden_interpretation_limited low_record_burden_gene HROB human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Premature ovarian insufficiency Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 1 1 1.0000 condition_record_support_limited 20 0 1 Premature_ovarian_insufficiency 3 low_record_burden_interpretation_limited low_record_burden_gene HRG familial_early_onset_deep_venous_thrombosis Familial early-onset deep venous thrombosis . 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_early-onset_deep_venous_thrombosis 2 low_record_burden_interpretation_limited low_record_burden_gene HRAS cutaneous_skeletal_hypophosphatemia_syndrome cutaneous-skeletal hypophosphatemia syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 cutaneous-skeletal_hypophosphatemia_syndrome 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS mondo_mondo_0019311_medgen_c0343114_orphanet_79414 Wooly hair nevus MONDO:MONDO:0019311,MedGen:C0343114,Orphanet:79414 1 1 1.0000 condition_record_support_limited 20 0 1 Wooly_hair_nevus 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS mondo_mondo_0020513_medgen_c0334517_orphanet_99865 Spermatocytic seminoma MONDO:MONDO:0020513,MedGen:C0334517,Orphanet:99865 1 1 1.0000 condition_record_support_limited 20 0 1 Spermatocytic_seminoma 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS human_phenotype_ontology_hp_0100684_mondo_mondo_0021357_medgen_c0036095 Salivary gland neoplasm Human_Phenotype_Ontology:HP:0100684,MONDO:MONDO:0021357,MedGen:C0036095 1 1 1.0000 condition_record_support_limited 20 0 1 Salivary_gland_neoplasm 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS spitz_nevus_somatic SPITZ NEVUS, SOMATIC . 1 1 1.0000 condition_record_support_limited 20 0 1 SPITZ_NEVUS,_SOMATIC 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 Noonan syndrome 1 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 1 1 1.0000 condition_record_support_limited 20 0 1 Noonan_syndrome_1 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 Noonan syndrome MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 1 1 1.0000 condition_record_support_limited 20 0 1 Noonan_syndrome 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS human_phenotype_ontology_hp_0030358_mondo_mondo_0005233_mesh_d002289_medgen_c0007131 Non-small cell lung carcinoma Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131 1 1 1.0000 condition_record_support_limited 20 0 1 Non-small_cell_lung_carcinoma 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS nevus_spilus_somatic NEVUS SPILUS, SOMATIC . 1 1 1.0000 condition_record_support_limited 20 0 1 NEVUS_SPILUS,_SOMATIC 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS ka_like_vemurafenib_induced_squamous_lesions KA-like vemurafenib-induced squamous lesions . 1 1 1.0000 condition_record_support_limited 20 0 1 KA-like_vemurafenib-induced_squamous_lesions 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS mondo_mondo_0003088_medgen_c0205789 Intramuscular hemangioma MONDO:MONDO:0003088,MedGen:C0205789 1 1 1.0000 condition_record_support_limited 20 0 0 Intramuscular_hemangioma 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS medgen_c3277679 EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC MedGen:C3277679 1 1 1.0000 condition_record_support_limited 20 0 1 EPIDERMAL_NEVUS_WITH_UROTHELIAL_CANCER,_SOMATIC 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HRAS medgen_c4016398 COSTELLO SYNDROME, SEVERE MedGen:C4016398 1 1 1.0000 condition_record_support_limited 20 0 1 COSTELLO_SYNDROME,_SEVERE 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HR hr_related_disorder HR-related disorder MedGen:CN239293 1 1 1.0000 condition_record_support_limited 20 0 0 HR-related_disorder 33 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture HPSE2 hpse2_related_disorder HPSE2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 HPSE2-related_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPS3 mondo_mondo_0011997_medgen_c1842362_omim_608233_orphanet_183678_orphanet_79430 Hermansky-Pudlak syndrome 2 MONDO:MONDO:0011997,MedGen:C1842362,OMIM:608233,Orphanet:183678,Orphanet:79430 1 1 1.0000 condition_record_support_limited 20 0 1 Hermansky-Pudlak_syndrome_2 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 194 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPS1 mondo_mondo_0016501_medgen_c5679834_orphanet_231500 Hermansky-Pudlak syndrome with pulmonary fibrosis MONDO:MONDO:0016501,MedGen:C5679834,Orphanet:231500 1 1 1.0000 condition_record_support_limited 20 0 1 Hermansky-Pudlak_syndrome_with_pulmonary_fibrosis 194 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_yale HPRT YALE . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_YALE 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_urangan HPRT URANGAN . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_URANGAN 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_toronto HPRT TORONTO . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_TORONTO 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_toowong HPRT TOOWONG . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_TOOWONG 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_swan HPRT SWAN . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_SWAN 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_paris HPRT PARIS . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_PARIS 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_new_haven HPRT NEW HAVEN . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_NEW_HAVEN 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_new_briton HPRT NEW BRITON . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_NEW_BRITON 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_munich HPRT MUNICH . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_MUNICH 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_moose_jaw HPRT MOOSE JAW . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_MOOSE_JAW 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_montreal HPRT MONTREAL . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_MONTREAL 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_milwaukee HPRT MILWAUKEE . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_MILWAUKEE 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_midland HPRT MIDLAND . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_MIDLAND 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_michigan HPRT MICHIGAN . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_MICHIGAN 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_london HPRT LONDON . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_LONDON 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_fujimi HPRT FUJIMI . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_FUJIMI 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_flint HPRT FLINT . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_FLINT 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_evansville HPRT EVANSVILLE . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_EVANSVILLE 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_detroit HPRT DETROIT . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_DETROIT 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_coorparoo HPRT COORPAROO . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_COORPAROO 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_chicago HPRT CHICAGO . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_CHICAGO 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_chermside HPRT CHERMSIDE . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_CHERMSIDE 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_ashville HPRT ASHVILLE . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_ASHVILLE 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_arlington HPRT ARLINGTON . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_ARLINGTON 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPRT1 hprt_ann_arbor HPRT ANN ARBOR . 1 1 1.0000 condition_record_support_limited 20 0 1 HPRT_ANN_ARBOR 112 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPGD hpgd_related_disorder HPGD-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 HPGD-related_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPGD mondo_mondo_0015466_medgen_c2678439_orphanet_1525 Cranioosteoarthropathy MONDO:MONDO:0015466,MedGen:C2678439,Orphanet:1525 1 1 1.0000 condition_record_support_limited 20 0 1 Cranioosteoarthropathy 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPDL human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_ataxia 48 single_exon_hotspot_opportunity local_compact_architecture HPD human_phenotype_ontology_hp_0001257_medgen_c0026838 Spasticity Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 1 1 1.0000 condition_record_support_limited 20 0 1 Spasticity 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPD human_phenotype_ontology_hp_0002451_medgen_c0751093 Limb dystonia Human_Phenotype_Ontology:HP:0002451,MedGen:C0751093 1 1 1.0000 condition_record_support_limited 20 0 1 Limb_dystonia 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPD human_phenotype_ontology_hp_0002375_human_phenotype_ontology_hp_0002603_human_phenotype_ontology_hp_0006795_medgen_c0086439 Hypokinesia Human_Phenotype_Ontology:HP:0002375,Human_Phenotype_Ontology:HP:0002603,Human_Phenotype_Ontology:HP:0006795,MedGen:C0086439 1 1 1.0000 condition_record_support_limited 20 0 1 Hypokinesia 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPD human_phenotype_ontology_hp_0003231_medgen_c1879362 Hypertyrosinemia Human_Phenotype_Ontology:HP:0003231,MedGen:C1879362 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertyrosinemia 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPD human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HPD human_phenotype_ontology_hp_0002500_human_phenotype_ontology_hp_0200100_medgen_c0948163 Abnormal cerebral white matter morphology Human_Phenotype_Ontology:HP:0002500,Human_Phenotype_Ontology:HP:0200100,MedGen:C0948163 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cerebral_white_matter_morphology 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HOXD13 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 32 compact_adjacent_exon_block_opportunity local_compact_architecture HOXD13 mondo_mondo_0800344_medgen_c4310807 Brachydactyly-syndactyly-oligodactyly syndrome MONDO:MONDO:0800344,MedGen:C4310807 1 1 1.0000 condition_record_support_limited 20 0 0 Brachydactyly-syndactyly-oligodactyly_syndrome 32 compact_adjacent_exon_block_opportunity local_compact_architecture HOXD13 human_phenotype_ontology_hp_0005863_human_phenotype_ontology_hp_0006115_mondo_mondo_0019677_medgen_c4315392_orphanet_93387 Brachydactyly type E Human_Phenotype_Ontology:HP:0005863,Human_Phenotype_Ontology:HP:0006115,MONDO:MONDO:0019677,MedGen:C4315392,Orphanet:93387 1 1 1.0000 condition_record_support_limited 20 0 1 Brachydactyly_type_E 32 compact_adjacent_exon_block_opportunity local_compact_architecture HOXD10 human_phenotype_ontology_hp_0001835_human_phenotype_ontology_hp_0001838_human_phenotype_ontology_hp_0004693_human_phenotype_ontology_hp_0010218_mondo_mondo_0008652_medgen_c0240912_omim_192950_orphanet_178382 Congenital vertical talus Human_Phenotype_Ontology:HP:0001835,Human_Phenotype_Ontology:HP:0001838,Human_Phenotype_Ontology:HP:0004693,Human_Phenotype_Ontology:HP:0010218,MONDO:MONDO:0008652,MedGen:C0240912,OMIM:192950,Orphanet:178382 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_vertical_talus 1 low_record_burden_interpretation_limited low_record_burden_gene HOXB13 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene HOXB13 mondo_mondo_0012597_medgen_c1970250_omim_610997_orphanet_1331 Prostate cancer, hereditary, 9 MONDO:MONDO:0012597,MedGen:C1970250,OMIM:610997,Orphanet:1331 1 1 1.0000 condition_record_support_limited 20 0 1 Prostate_cancer,_hereditary,_9 2 low_record_burden_interpretation_limited low_record_burden_gene HOXB13 medgen_c3469524 Prostate cancer susceptibility MedGen:C3469524 1 1 1.0000 condition_record_support_limited 20 0 1 Prostate_cancer_susceptibility 2 low_record_burden_interpretation_limited low_record_burden_gene HOXB13 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer-predisposing_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene HOXB13 hoxb13_related_disorder HOXB13-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 HOXB13-related_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene HOXB13 hoxb13_related_cancer_predisposition HOXB13-Related Cancer Predisposition . 1 1 1.0000 condition_record_support_limited 20 0 1 HOXB13-Related_Cancer_Predisposition 2 low_record_burden_interpretation_limited low_record_burden_gene HOXB13 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 1 1 1.0000 condition_record_support_limited 20 0 0 Gastric_cancer 2 low_record_burden_interpretation_limited low_record_burden_gene HOXB13 mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 Familial prostate cancer MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_prostate_cancer 2 low_record_burden_interpretation_limited low_record_burden_gene HOXB13 mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 Carcinoma of pancreas MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 1 1 1.0000 condition_record_support_limited 20 0 1 Carcinoma_of_pancreas 2 low_record_burden_interpretation_limited low_record_burden_gene HOXB13 breast_and_or_ovarian_cancer Breast and/or ovarian cancer MedGen:CN221562 1 1 1.0000 condition_record_support_limited 20 0 1 Breast_and/or_ovarian_cancer 2 low_record_burden_interpretation_limited low_record_burden_gene HOXA3 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 1 low_record_burden_interpretation_limited low_record_burden_gene HOXA2 microtia_without_hearing_impairment MICROTIA WITHOUT HEARING IMPAIRMENT . 1 1 1.0000 condition_record_support_limited 20 0 0 MICROTIA_WITHOUT_HEARING_IMPAIRMENT 7 low_record_burden_interpretation_limited low_record_burden_gene HOXA2 medgen_c3808166 MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT MedGen:C3808166 1 1 1.0000 condition_record_support_limited 20 0 0 MICROTIA_WITH_OR_WITHOUT_HEARING_IMPAIRMENT 7 low_record_burden_interpretation_limited low_record_burden_gene HOXA2 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 0 Hearing_impairment 7 low_record_burden_interpretation_limited low_record_burden_gene HOXA11 mondo_mondo_0024558_medgen_c4551975_omim_605432_orphanet_71289 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 MONDO:MONDO:0024558,MedGen:C4551975,OMIM:605432,Orphanet:71289 1 1 1.0000 condition_record_support_limited 20 0 0 Radioulnar_synostosis_with_amegakaryocytic_thrombocytopenia_1 3 low_record_burden_interpretation_limited low_record_burden_gene HOXA11 mesomelic_dysplasia_with_urogenital_abnormalities Mesomelic dysplasia with urogenital abnormalities . 1 1 1.0000 condition_record_support_limited 20 0 0 Mesomelic_dysplasia_with_urogenital_abnormalities 3 low_record_burden_interpretation_limited low_record_burden_gene HOXA11 medgen_c1844502_omim_305690 Inherited genitourinary tract anomalies MedGen:C1844502,OMIM:305690 1 1 1.0000 condition_record_support_limited 20 0 0 Inherited_genitourinary_tract_anomalies 3 low_record_burden_interpretation_limited low_record_burden_gene HORMAD1 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility 1 low_record_burden_interpretation_limited low_record_burden_gene HOOK3 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene HNRNPUL2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 4 low_record_burden_interpretation_limited low_record_burden_gene HNRNPUL2 hnrnpul2_related_disorder HNRNPUL2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 HNRNPUL2-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene HNRNPU mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 148 compact_adjacent_exon_block_opportunity local_compact_architecture HNRNPU human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 148 compact_adjacent_exon_block_opportunity local_compact_architecture HNRNPU intellectual_disability_and_seizures Intellectual disability and seizures MedGen:CN231403 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability_and_seizures 148 compact_adjacent_exon_block_opportunity local_compact_architecture HNRNPU mondo_mondo_0010632_medgen_c3463992_omim_308350 Developmental and epileptic encephalopathy, 1 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_1 148 compact_adjacent_exon_block_opportunity local_compact_architecture HNRNPK medgen_c0235820 Neonatal encephalopathy MedGen:C0235820 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_encephalopathy 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNRNPK human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNRNPK human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 0 Generalized_hypotonia 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNRNPH2 mondo_mondo_0002265_medgen_c0038273 Stereotypic movement disorder MONDO:MONDO:0002265,MedGen:C0038273 1 1 1.0000 condition_record_support_limited 20 0 1 Stereotypic_movement_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene HNRNPH2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene HNRNPH2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 14 low_record_burden_interpretation_limited low_record_burden_gene HNRNPH2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 14 low_record_burden_interpretation_limited low_record_burden_gene HNRNPH2 hnrnph2_related_disorder HNRNPH2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 HNRNPH2-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene HNRNPH2 human_phenotype_ontology_hp_0001071_mondo_mondo_0010526_medgen_c0002986_omim_301500_orphanet_324 Fabry disease Human_Phenotype_Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324 1 1 1.0000 condition_record_support_limited 20 0 1 Fabry_disease 14 low_record_burden_interpretation_limited low_record_burden_gene HNRNPH2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 14 low_record_burden_interpretation_limited low_record_burden_gene HNRNPH2 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 14 low_record_burden_interpretation_limited low_record_burden_gene HNRNPH1 mondo_mondo_0010512_medgen_c4310814_omim_300986_orphanet_662198 Intellectual disability, X-linked, syndromic, Bain type MONDO:MONDO:0010512,MedGen:C4310814,OMIM:300986,Orphanet:662198 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_X-linked,_syndromic,_Bain_type 9 low_record_burden_interpretation_limited low_record_burden_gene HNRNPH1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 9 low_record_burden_interpretation_limited low_record_burden_gene HNRNPDL hnrnpdl_related_myopathy_with_protein_aggregates_and_rimmed_vacuoles HNRNPDL-related myopathy with protein aggregates and rimmed vacuoles . 1 1 1.0000 condition_record_support_limited 20 0 1 HNRNPDL-related_myopathy_with_protein_aggregates_and_rimmed_vacuoles 3 low_record_burden_interpretation_limited low_record_burden_gene HNRNPD condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene HNRNPD mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene HNRNPD hnrnpd_related_neurodevelopmental_disorder HNRNPD-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 HNRNPD-related_neurodevelopmental_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene HNRNPA2B1 human_phenotype_ontology_hp_0002145_mondo_mondo_0017276_medgen_c0338451_omim_600274_orphanet_282 Frontotemporal dementia Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282 1 1 1.0000 condition_record_support_limited 20 0 0 Frontotemporal_dementia 6 low_record_burden_interpretation_limited low_record_burden_gene HNRNPA1 mondo_mondo_0012410_medgen_c1864706_omim_610099_orphanet_399086 Finnish upper limb-onset distal myopathy MONDO:MONDO:0012410,MedGen:C1864706,OMIM:610099,Orphanet:399086 1 1 1.0000 condition_record_support_limited 20 0 0 Finnish_upper_limb-onset_distal_myopathy 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNRNPA1 mondo_mondo_0018949_medgen_c0751336_omim_ps160500_orphanet_599 Distal myopathy MONDO:MONDO:0018949,MedGen:C0751336,OMIM:PS160500,Orphanet:599 1 1 1.0000 condition_record_support_limited 20 0 0 Distal_myopathy 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNRNPA1 mondo_mondo_0014181_medgen_c3715156_omim_615426_orphanet_803 Amyotrophic lateral sclerosis type 20 MONDO:MONDO:0014181,MedGen:C3715156,OMIM:615426,Orphanet:803 1 1 1.0000 condition_record_support_limited 20 0 1 Amyotrophic_lateral_sclerosis_type_20 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF4A mondo_mondo_0010894_medgen_c1838100_omim_600496_orphanet_552 Maturity-onset diabetes of the young type 3 MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552 1 1 1.0000 condition_record_support_limited 20 0 1 Maturity-onset_diabetes_of_the_young_type_3 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF4A mondo_mondo_0017935_medgen_c4303475_orphanet_324575 Hyperinsulinism due to HNF1A deficiency MONDO:MONDO:0017935,MedGen:C4303475,Orphanet:324575 1 1 1.0000 condition_record_support_limited 20 0 0 Hyperinsulinism_due_to_HNF1A_deficiency 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF4A human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Autosomal dominant polycystic liver disease Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_polycystic_liver_disease 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF1B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF1B mondo_mondo_0013643_medgen_c3280216_omim_614227 Hyperuricemic nephropathy, familial juvenile type 3 MONDO:MONDO:0013643,MedGen:C3280216,OMIM:614227 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperuricemic_nephropathy,_familial_juvenile_type_3 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF1B hnf1b_related_renal_cysts_and_diabetes_syndrome HNF1B-related renal cysts and diabetes syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 HNF1B-related_renal_cysts_and_diabetes_syndrome 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF1B mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_anomaly_of_kidney_and_urinary_tract 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF1B mondo_mondo_0017885_medgen_c1266042_orphanet_319303 Chromophobe renal cell carcinoma MONDO:MONDO:0017885,MedGen:C1266042,Orphanet:319303 1 1 1.0000 condition_record_support_limited 20 0 1 Chromophobe_renal_cell_carcinoma 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF1B mondo_mondo_0008264_medgen_c4511620_orphanet_34149 Autosomal dominant medullary cystic kidney disease with or without hyperuricemia MONDO:MONDO:0008264,MedGen:C4511620,Orphanet:34149 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_medullary_cystic_kidney_disease_with_or_without_hyperuricemia 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF1A mondo_mondo_0018975_medgen_c0027831_omim_162200_orphanet_636 Neurofibromatosis, type 1 MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200,Orphanet:636 1 1 1.0000 condition_record_support_limited 20 0 1 Neurofibromatosis,_type_1 384 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF1A mondo_mondo_0859278_medgen_c5774200_omim_620009 Keratoderma-ichthyosis-deafness syndrome, autosomal recessive MONDO:MONDO:0859278,MedGen:C5774200,OMIM:620009 1 1 1.0000 condition_record_support_limited 20 0 1 Keratoderma-ichthyosis-deafness_syndrome,_autosomal_recessive 384 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF1A mondo_mondo_0017935_medgen_c4303475_orphanet_324575 Hyperinsulinism due to HNF1A deficiency MONDO:MONDO:0017935,MedGen:C4303475,Orphanet:324575 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperinsulinism_due_to_HNF1A_deficiency 384 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF1A hnf1a_related_disorders HNF1A-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 HNF1A-related_disorders 384 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF1A mondo_mondo_0008564_medgen_c0012236_omim_188400_orphanet_567 DiGeorge syndrome MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400,Orphanet:567 1 1 1.0000 condition_record_support_limited 20 0 1 DiGeorge_syndrome 384 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HNF1A human_phenotype_ontology_hp_0006770_mondo_mondo_0005005_medgen_c0279702_orphanet_319276 Clear cell carcinoma of kidney Human_Phenotype_Ontology:HP:0006770,MONDO:MONDO:0005005,MedGen:C0279702,Orphanet:319276 1 1 1.0000 condition_record_support_limited 20 0 1 Clear_cell_carcinoma_of_kidney 384 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMX1 mondo_mondo_0013293_medgen_c3150757_omim_613517_orphanet_2542 Isolated microphthalmia 6 MONDO:MONDO:0013293,MedGen:C3150757,OMIM:613517,Orphanet:2542 1 1 1.0000 condition_record_support_limited 20 0 0 Isolated_microphthalmia_6 3 low_record_burden_interpretation_limited low_record_burden_gene HMOX1 human_phenotype_ontology_hp_0006510_mondo_mondo_0005002_medgen_c0024117_omim_606963 Chronic obstructive pulmonary disease Human_Phenotype_Ontology:HP:0006510,MONDO:MONDO:0005002,MedGen:C0024117,OMIM:606963 1 1 1.0000 condition_record_support_limited 20 0 1 Chronic_obstructive_pulmonary_disease 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMMR mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 1 low_record_burden_interpretation_limited low_record_burden_gene HMGCS2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMGCS2 hmgcs2_related_disorder HMGCS2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 HMGCS2-related_disorder 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMGCR human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Limb-girdle muscular dystrophy Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 1.0000 condition_record_support_limited 20 0 1 Limb-girdle_muscular_dystrophy 7 low_record_burden_interpretation_limited low_record_burden_gene HMGB1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene HMGB1 hmgb1_associated_disorder HMGB1-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 HMGB1-associated_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene HMGA2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene HMCN1 mondo_mondo_0011285_medgen_c1864205_omim_603075 Age related macular degeneration 1 MONDO:MONDO:0011285,MedGen:C1864205,OMIM:603075 1 1 1.0000 condition_record_support_limited 20 0 0 Age_related_macular_degeneration_1 1 low_record_burden_interpretation_limited low_record_burden_gene HMBS human_phenotype_ontology_hp_0002013_medgen_c0042963 Vomiting Human_Phenotype_Ontology:HP:0002013,MedGen:C0042963 1 1 1.0000 condition_record_support_limited 20 0 1 Vomiting 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMBS human_phenotype_ontology_hp_0000572_medgen_c3665386 Visual loss Human_Phenotype_Ontology:HP:0000572,MedGen:C3665386 1 1 1.0000 condition_record_support_limited 20 0 1 Visual_loss 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMBS human_phenotype_ontology_hp_0001945_medgen_c0015967 Fever Human_Phenotype_Ontology:HP:0001945,MedGen:C0015967 1 1 1.0000 condition_record_support_limited 20 0 1 Fever 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMBS human_phenotype_ontology_hp_0000712_human_phenotype_ontology_hp_0000720_human_phenotype_ontology_hp_0001575_human_phenotype_ontology_hp_0008766_medgen_c0085633 Emotional lability Human_Phenotype_Ontology:HP:0000712,Human_Phenotype_Ontology:HP:0000720,Human_Phenotype_Ontology:HP:0001575,Human_Phenotype_Ontology:HP:0008766,MedGen:C0085633 1 1 1.0000 condition_record_support_limited 20 0 1 Emotional_lability 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMBS human_phenotype_ontology_hp_0003163_medgen_c1848702 Elevated urinary delta-aminolevulinic acid Human_Phenotype_Ontology:HP:0003163,MedGen:C1848702 1 1 1.0000 condition_record_support_limited 20 0 1 Elevated_urinary_delta-aminolevulinic_acid 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMBS human_phenotype_ontology_hp_0000739_mondo_mondo_0011918_medgen_c0003467_omim_607834 Anxiety Human_Phenotype_Ontology:HP:0000739,MONDO:MONDO:0011918,MedGen:C0003467,OMIM:607834 1 1 1.0000 condition_record_support_limited 20 0 1 Anxiety 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMBS human_phenotype_ontology_hp_0003489_medgen_c1867971 Acute episodes of neuropathic symptoms Human_Phenotype_Ontology:HP:0003489,MedGen:C1867971 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_episodes_of_neuropathic_symptoms 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HMBS human_phenotype_ontology_hp_0010472_medgen_c4023814 Abnormal circulating porphyrin concentration Human_Phenotype_Ontology:HP:0010472,MedGen:C4023814 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_circulating_porphyrin_concentration 176 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HLA-DRB1 human_phenotype_ontology_hp_0004935_medgen_c0265908 Pulmonary artery atresia Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908 1 1 1.0000 condition_record_support_limited 20 0 0 Pulmonary_artery_atresia 2 low_record_burden_interpretation_limited low_record_burden_gene HLA-DRB1 mondo_mondo_0007462_medgen_c1868685_omim_126200_omim_ps126200 Multiple sclerosis, susceptibility to MONDO:MONDO:0007462,MedGen:C1868685,OMIM:126200,OMIM:PS126200 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_sclerosis,_susceptibility_to 2 low_record_burden_interpretation_limited low_record_burden_gene HLA-DQB1 susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 1 low_record_burden_interpretation_limited low_record_burden_gene HLA-B ebv_positive_nodal_t_and_nk_cell_lymphoma EBV-positive nodal T- and NK-cell lymphoma . 1 1 1.0000 condition_record_support_limited 20 0 0 EBV-positive_nodal_T-_and_NK-cell_lymphoma 1 low_record_burden_interpretation_limited low_record_burden_gene HLA-A susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 1 low_record_burden_interpretation_limited low_record_burden_gene HKDC1 nonsyndromic_cleft_lip_palate Nonsyndromic cleft lip palate . 1 1 1.0000 condition_record_support_limited 20 0 0 Nonsyndromic_cleft_lip_palate 6 low_record_burden_interpretation_limited low_record_burden_gene HK1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HK1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HK1 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HK1 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HJV mondo_mondo_0019257_medgen_c0268060_orphanet_79230 Juvenile hemochromatosis MONDO:MONDO:0019257,MedGen:C0268060,Orphanet:79230 1 1 1.0000 condition_record_support_limited 20 0 1 Juvenile_hemochromatosis 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HJV hjv_related_disorder HJV-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 HJV-related_disorder 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HIVEP2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 74 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture HIVEP2 hp_0000750_hp_0001263 HP:0000750; HP:0001263 . 1 1 1.0000 condition_record_support_limited 20 0 0 HP:0000750%3B_HP:0001263 74 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture HIPK4 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility 1 low_record_burden_interpretation_limited low_record_burden_gene HINT1 human_phenotype_ontology_hp_0003390_human_phenotype_ontology_hp_0006883_human_phenotype_ontology_hp_0007248_human_phenotype_ontology_hp_0007345_medgen_c1842587 Sensory axonal neuropathy Human_Phenotype_Ontology:HP:0003390,Human_Phenotype_Ontology:HP:0006883,Human_Phenotype_Ontology:HP:0007248,Human_Phenotype_Ontology:HP:0007345,MedGen:C1842587 1 1 1.0000 condition_record_support_limited 20 0 0 Sensory_axonal_neuropathy 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HIKESHI mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 5 low_record_burden_interpretation_limited low_record_burden_gene HIKESHI hikeshi_related_disorder HIKESHI-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 HIKESHI-related_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene HIF1A condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene HID1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 9 low_record_burden_interpretation_limited low_record_burden_gene HIBCH medgen_c4283745 Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency MedGen:C4283745 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodegeneration_due_to_3-hydroxyisobutyryl_coenzyme_A_hydrolase_deficiency 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HIBCH hibch_related_disorder HIBCH-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 HIBCH-related_disorder 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HHAT mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 8 low_record_burden_interpretation_limited low_record_burden_gene HGSNAT mondo_mondo_0001468_medgen_c0554601 Synovial plica syndrome MONDO:MONDO:0001468,MedGen:C0554601 1 1 1.0000 condition_record_support_limited 20 0 1 Synovial_plica_syndrome 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HGSNAT mondo_mondo_0019249_mesh_d009083_medgen_c0026703_omim_ps607014_orphanet_79213 Mucopolysaccharidosis MONDO:MONDO:0019249,MeSH:D009083,MedGen:C0026703,OMIM:PS607014,Orphanet:79213 1 1 1.0000 condition_record_support_limited 20 0 1 Mucopolysaccharidosis 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HGSNAT hgsnat_related_disorder HGSNAT-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 HGSNAT-related_disorder 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HGF human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorineural_hearing_loss_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene HFM1 human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Azoospermia Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 1.0000 condition_record_support_limited 20 0 0 Azoospermia 16 low_record_burden_interpretation_limited low_record_burden_gene HFE mondo_mondo_0019257_medgen_c0268060_orphanet_79230 Juvenile hemochromatosis MONDO:MONDO:0019257,MedGen:C0268060,Orphanet:79230 1 1 1.0000 condition_record_support_limited 20 0 1 Juvenile_hemochromatosis 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HFE medgen_c1135954 Incidental Discovery MedGen:C1135954 1 1 1.0000 condition_record_support_limited 20 0 1 Incidental_Discovery 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEY2 human_phenotype_ontology_hp_0001636_mondo_mondo_0008542_medgen_c0039685_omim_187500_orphanet_3303 Tetralogy of Fallot Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303 1 1 1.0000 condition_record_support_limited 20 0 0 Tetralogy_of_Fallot 1 low_record_burden_interpretation_limited low_record_burden_gene HEXB medgen_c4310842 Sandhoff disease, chronic MedGen:C4310842 1 1 1.0000 condition_record_support_limited 20 0 1 Sandhoff_disease,_chronic 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEXB hexb_related_disorder HEXB-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 HEXB-related_disorder 219 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEXA mondo_mondo_0010099_medgen_c0268275_omim_272750_orphanet_309246 Tay-Sachs disease, variant AB MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750,Orphanet:309246 1 1 1.0000 condition_record_support_limited 20 0 1 Tay-Sachs_disease,_variant_AB 331 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEXA medgen_c1848913 TAY-SACHS DISEASE, JUVENILE MedGen:C1848913 1 1 1.0000 condition_record_support_limited 20 0 1 TAY-SACHS_DISEASE,_JUVENILE 331 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEXA human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 331 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEXA human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Leukodystrophy Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 1.0000 condition_record_support_limited 20 0 1 Leukodystrophy 331 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEXA human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 331 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEXA human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 331 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEXA medgen_c2874270 Gm2-gangliosidosis, adult MedGen:C2874270 1 1 1.0000 condition_record_support_limited 20 0 1 Gm2-gangliosidosis,_adult 331 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEXA human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 331 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEXA medgen_c4310893 GM2-gangliosidosis, adult-onset MedGen:C4310893 1 1 1.0000 condition_record_support_limited 20 0 1 GM2-gangliosidosis,_adult-onset 331 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEXA human_phenotype_ontology_hp_0003495_medgen_c1848920 GM2-ganglioside accumulation Human_Phenotype_Ontology:HP:0003495,MedGen:C1848920 1 1 1.0000 condition_record_support_limited 20 0 0 GM2-ganglioside_accumulation 331 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEXA medgen_c4016988 GM2-GANGLIOSIDOSIS, CHRONIC MedGen:C4016988 1 1 1.0000 condition_record_support_limited 20 0 1 GM2-GANGLIOSIDOSIS,_CHRONIC 331 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEXA medgen_c2749283 GM2-GANGLIOSIDOSIS, B1 VARIANT MedGen:C2749283 1 1 1.0000 condition_record_support_limited 20 0 1 GM2-GANGLIOSIDOSIS,_B1_VARIANT 331 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HESX1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 21 compact_adjacent_exon_block_opportunity local_compact_architecture HES7 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0002807_human_phenotype_ontology_hp_0002948_human_phenotype_ontology_hp_0008471_human_phenotype_ontology_hp_0008485_medgen_c3278509 Vertebral fusion Human_Phenotype_Ontology:HP:0002807,Human_Phenotype_Ontology:HP:0002948,Human_Phenotype_Ontology:HP:0008471,Human_Phenotype_Ontology:HP:0008485,MedGen:C3278509 1 1 1.0000 condition_record_support_limited 20 0 1 Vertebral_fusion 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0003423_medgen_c1859335 Thoracolumbar kyphoscoliosis Human_Phenotype_Ontology:HP:0003423,MedGen:C1859335 1 1 1.0000 condition_record_support_limited 20 0 1 Thoracolumbar_kyphoscoliosis 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0002943_human_phenotype_ontology_hp_0004615_medgen_c1857790 Thoracic scoliosis Human_Phenotype_Ontology:HP:0002943,Human_Phenotype_Ontology:HP:0004615,MedGen:C1857790 1 1 1.0000 condition_record_support_limited 20 0 1 Thoracic_scoliosis 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0005659_medgen_c4015465 Thoracic kyphoscoliosis Human_Phenotype_Ontology:HP:0005659,MedGen:C4015465 1 1 1.0000 condition_record_support_limited 20 0 1 Thoracic_kyphoscoliosis 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0001182_human_phenotype_ontology_hp_0005795_human_phenotype_ontology_hp_0005800_human_phenotype_ontology_hp_0006032_human_phenotype_ontology_hp_0006080_human_phenotype_ontology_hp_0006098_human_phenotype_ontology_hp_0006111_human_phenotype_ontology_hp_0006125_human_phenotype_ontology_hp_0006244_human_phenotype_ontology_hp_0007532_medgen_c0426886 Tapered finger Human_Phenotype_Ontology:HP:0001182,Human_Phenotype_Ontology:HP:0005795,Human_Phenotype_Ontology:HP:0005800,Human_Phenotype_Ontology:HP:0006032,Human_Phenotype_Ontology:HP:0006080,Human_Phenotype_Ontology:HP:0006098,Human_Phenotype_Ontology:HP:0006111,Human_Phenotype_Ontology:HP:0006125,Human_Phenotype_Ontology:HP:0006244,Human_Phenotype_Ontology:HP:0007532,MedGen:C0426886 1 1 1.0000 condition_record_support_limited 20 0 1 Tapered_finger 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 mondo_mondo_0012097_medgen_c1837549_omim_608681_orphanet_2311 Spondylocostal dysostosis 2, autosomal recessive MONDO:MONDO:0012097,MedGen:C1837549,OMIM:608681,Orphanet:2311 1 1 1.0000 condition_record_support_limited 20 0 1 Spondylocostal_dysostosis_2,_autosomal_recessive 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Skeletal dysplasia Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 1 1 1.0000 condition_record_support_limited 20 0 1 Skeletal_dysplasia 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0000470_human_phenotype_ontology_hp_0005992_human_phenotype_ontology_hp_0200137_medgen_c0521525 Short neck Human_Phenotype_Ontology:HP:0000470,Human_Phenotype_Ontology:HP:0005992,Human_Phenotype_Ontology:HP:0200137,MedGen:C0521525 1 1 1.0000 condition_record_support_limited 20 0 1 Short_neck 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0001525_human_phenotype_ontology_hp_0008876_medgen_c1855514 Severe failure to thrive Human_Phenotype_Ontology:HP:0001525,Human_Phenotype_Ontology:HP:0008876,MedGen:C1855514 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_failure_to_thrive 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 1.0000 condition_record_support_limited 20 0 1 Scoliosis 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0000253_medgen_c1850456 Progressive microcephaly Human_Phenotype_Ontology:HP:0000253,MedGen:C1850456 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_microcephaly 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0008458_medgen_c1857025 Progressive congenital scoliosis Human_Phenotype_Ontology:HP:0008458,MedGen:C1857025 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_congenital_scoliosis 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0008443_medgen_c5702564 Neuropathic spinal arthropathy Human_Phenotype_Ontology:HP:0008443,MedGen:C5702564 1 1 1.0000 condition_record_support_limited 20 0 1 Neuropathic_spinal_arthropathy 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0001653_mondo_mondo_1030008_medgen_c0026266 Mitral regurgitation Human_Phenotype_Ontology:HP:0001653,MONDO:MONDO:1030008,MedGen:C0026266 1 1 1.0000 condition_record_support_limited 20 0 1 Mitral_regurgitation 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0032059_medgen_c4732830 Mild malformation of cortical development Human_Phenotype_Ontology:HP:0032059,MedGen:C4732830 1 1 1.0000 condition_record_support_limited 20 0 1 Mild_malformation_of_cortical_development 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0011342_medgen_c4012968 Mild global developmental delay Human_Phenotype_Ontology:HP:0011342,MedGen:C4012968 1 1 1.0000 condition_record_support_limited 20 0 1 Mild_global_developmental_delay 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0004619_medgen_c1834953 Lumbar kyphoscoliosis Human_Phenotype_Ontology:HP:0004619,MedGen:C1834953 1 1 1.0000 condition_record_support_limited 20 0 1 Lumbar_kyphoscoliosis 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0002148_mondo_mondo_0000313_medgen_c0085682 Hypophosphatemia Human_Phenotype_Ontology:HP:0002148,MONDO:MONDO:0000313,MedGen:C0085682 1 1 1.0000 condition_record_support_limited 20 0 1 Hypophosphatemia 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0002937_medgen_c0265677 Hemivertebrae Human_Phenotype_Ontology:HP:0002937,MedGen:C0265677 1 1 1.0000 condition_record_support_limited 20 0 1 Hemivertebrae 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0001531_human_phenotype_ontology_hp_0008863_human_phenotype_ontology_hp_0008925_medgen_c1867873 Failure to thrive in infancy Human_Phenotype_Ontology:HP:0001531,Human_Phenotype_Ontology:HP:0008863,Human_Phenotype_Ontology:HP:0008925,MedGen:C1867873 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive_in_infancy 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0003498_human_phenotype_ontology_hp_0008895_human_phenotype_ontology_hp_0008900_medgen_c0878659 Disproportionate short stature Human_Phenotype_Ontology:HP:0003498,Human_Phenotype_Ontology:HP:0008895,Human_Phenotype_Ontology:HP:0008900,MedGen:C0878659 1 1 1.0000 condition_record_support_limited 20 0 1 Disproportionate_short_stature 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0010862_medgen_c4023681 Delayed fine motor development Human_Phenotype_Ontology:HP:0010862,MedGen:C4023681 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_fine_motor_development 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0031936_medgen_c0241726 Delayed ability to walk Human_Phenotype_Ontology:HP:0031936,MedGen:C0241726 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_ability_to_walk 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0025335_medgen_c4476709 Delayed ability to stand Human_Phenotype_Ontology:HP:0025335,MedGen:C4476709 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_ability_to_stand 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0001823_human_phenotype_ontology_hp_0001826_human_phenotype_ontology_hp_0004325_medgen_c5574742 Decreased body weight Human_Phenotype_Ontology:HP:0001823,Human_Phenotype_Ontology:HP:0001826,Human_Phenotype_Ontology:HP:0004325,MedGen:C5574742 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_body_weight 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0000912_human_phenotype_ontology_hp_0006621_mondo_mondo_0008482_medgen_c0152438_omim_184400_orphanet_3181 Congenital elevation of scapula Human_Phenotype_Ontology:HP:0000912,Human_Phenotype_Ontology:HP:0006621,MONDO:MONDO:0008482,MedGen:C0152438,OMIM:184400,Orphanet:3181 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_elevation_of_scapula 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0003522_human_phenotype_ontology_hp_0008922_medgen_c3148833 Childhood-onset short-trunk short stature Human_Phenotype_Ontology:HP:0003522,Human_Phenotype_Ontology:HP:0008922,MedGen:C3148833 1 1 1.0000 condition_record_support_limited 20 0 1 Childhood-onset_short-trunk_short_stature 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0000248_human_phenotype_ontology_hp_0002258_human_phenotype_ontology_hp_0004479_human_phenotype_ontology_hp_0008512_medgen_c0221356_orphanet_35099 Brachycephaly Human_Phenotype_Ontology:HP:0000248,Human_Phenotype_Ontology:HP:0002258,Human_Phenotype_Ontology:HP:0004479,Human_Phenotype_Ontology:HP:0008512,MedGen:C0221356,Orphanet:35099 1 1 1.0000 condition_record_support_limited 20 0 1 Brachycephaly 7 low_record_burden_interpretation_limited low_record_burden_gene HES7 human_phenotype_ontology_hp_0003312_medgen_c1839326 Abnormal form of the vertebral bodies Human_Phenotype_Ontology:HP:0003312,MedGen:C1839326 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_form_of_the_vertebral_bodies 7 low_record_burden_interpretation_limited low_record_burden_gene HERPUD1 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_breast_ovarian_cancer_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene HERC2 human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 23 large_gene_or_donor_burden_stress_case donor_burden_stress HERC2 human_phenotype_ontology_hp_0002385_medgen_c0221166 Paraparesis Human_Phenotype_Ontology:HP:0002385,MedGen:C0221166 1 1 1.0000 condition_record_support_limited 20 0 1 Paraparesis 23 large_gene_or_donor_burden_stress_case donor_burden_stress HERC2 human_phenotype_ontology_hp_0000609_human_phenotype_ontology_hp_0007273_medgen_c0338502 Optic nerve hypoplasia Human_Phenotype_Ontology:HP:0000609,Human_Phenotype_Ontology:HP:0007273,MedGen:C0338502 1 1 1.0000 condition_record_support_limited 20 0 1 Optic_nerve_hypoplasia 23 large_gene_or_donor_burden_stress_case donor_burden_stress HERC2 human_phenotype_ontology_hp_0001319_human_phenotype_ontology_hp_0008976_medgen_c2267233 Neonatal hypotonia Human_Phenotype_Ontology:HP:0001319,Human_Phenotype_Ontology:HP:0008976,MedGen:C2267233 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_hypotonia 23 large_gene_or_donor_burden_stress_case donor_burden_stress HERC2 human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Motor delay Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 1.0000 condition_record_support_limited 20 0 1 Motor_delay 23 large_gene_or_donor_burden_stress_case donor_burden_stress HERC2 human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Hypoplasia of the corpus callosum Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplasia_of_the_corpus_callosum 23 large_gene_or_donor_burden_stress_case donor_burden_stress HERC2 human_phenotype_ontology_hp_0002283_human_phenotype_ontology_hp_0002369_human_phenotype_ontology_hp_0002462_medgen_c0241816 Global brain atrophy Human_Phenotype_Ontology:HP:0002283,Human_Phenotype_Ontology:HP:0002369,Human_Phenotype_Ontology:HP:0002462,MedGen:C0241816 1 1 1.0000 condition_record_support_limited 20 0 1 Global_brain_atrophy 23 large_gene_or_donor_burden_stress_case donor_burden_stress HERC2 human_phenotype_ontology_hp_0006857_human_phenotype_ontology_hp_0007360_human_phenotype_ontology_hp_0007368_medgen_c3279222 Aplasia/Hypoplasia of the cerebellum Human_Phenotype_Ontology:HP:0006857,Human_Phenotype_Ontology:HP:0007360,Human_Phenotype_Ontology:HP:0007368,MedGen:C3279222 1 1 1.0000 condition_record_support_limited 20 0 1 Aplasia/Hypoplasia_of_the_cerebellum 23 large_gene_or_donor_burden_stress_case donor_burden_stress HEPHL1 mondo_mondo_0009871_medgen_c1849811_omim_261990_orphanet_2891 Pili torti-developmental delay-neurological abnormalities syndrome MONDO:MONDO:0009871,MedGen:C1849811,OMIM:261990,Orphanet:2891 1 1 1.0000 condition_record_support_limited 20 0 0 Pili_torti-developmental_delay-neurological_abnormalities_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene HEPACAM mondo_mondo_0024555_medgen_c5779875_omim_604004_orphanet_2478 Megalencephalic leukoencephalopathy with subcortical cysts 1 MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004,Orphanet:2478 1 1 1.0000 condition_record_support_limited 20 0 0 Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEPACAM megalencephalic_leukoencephalopathy_with_subcortical_cysts_2b_remitting_with_impaired_intellectual_development MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT . 1 1 1.0000 condition_record_support_limited 20 0 1 MEGALENCEPHALIC_LEUKOENCEPHALOPATHY_WITH_SUBCORTICAL_CYSTS_2B,_REMITTING,_WITH_IMPAIRED_INTELLECTUAL_DEVELOPMENT 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HEPACAM hepacam_related_disorder HEPACAM-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 HEPACAM-related_disorder 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HELZ human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 1 low_record_burden_interpretation_limited low_record_burden_gene HELLS hells_related_disorder HELLS-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 HELLS-related_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HECW2 mondo_mondo_0060502_medgen_c4479631_omim_617527_orphanet_521426 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies MONDO:MONDO:0060502,MedGen:C4479631,OMIM:617527,Orphanet:521426 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_progressive_microcephaly,_spasticity,_and_brain_anomalies 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HECW2 neurodevelopmental_disorder_with_hypotonia Neurodevelopmental disorder with hypotonia . 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_hypotonia 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HECW2 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HECTD4 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 1 See_cases 9 low_record_burden_interpretation_limited low_record_burden_gene HECTD4 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene HECTD1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene HECTD1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 3 low_record_burden_interpretation_limited low_record_burden_gene HECTD1 hectd1_associated_neurodevelopmental_disorder HECTD1-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 HECTD1-associated_neurodevelopmental_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene HEATR5B neurological_syndrome_with_pontocerebellar_hypoplasia Neurological syndrome with pontocerebellar hypoplasia . 1 1 1.0000 condition_record_support_limited 20 0 0 Neurological_syndrome_with_pontocerebellar_hypoplasia 3 low_record_burden_interpretation_limited low_record_burden_gene HEATR4 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 0 Generalized_hypotonia 1 low_record_burden_interpretation_limited low_record_burden_gene HDAC8 human_phenotype_ontology_hp_0002209_human_phenotype_ontology_hp_0002233_human_phenotype_ontology_hp_0002556_human_phenotype_ontology_hp_0004534_human_phenotype_ontology_hp_0004541_human_phenotype_ontology_hp_0004542_human_phenotype_ontology_hp_0004772_human_phenotype_ontology_hp_0004774_human_phenotype_ontology_hp_0004775_medgen_c1857042 Sparse scalp hair Human_Phenotype_Ontology:HP:0002209,Human_Phenotype_Ontology:HP:0002233,Human_Phenotype_Ontology:HP:0002556,Human_Phenotype_Ontology:HP:0004534,Human_Phenotype_Ontology:HP:0004541,Human_Phenotype_Ontology:HP:0004542,Human_Phenotype_Ontology:HP:0004772,Human_Phenotype_Ontology:HP:0004774,Human_Phenotype_Ontology:HP:0004775,MedGen:C1857042 1 1 1.0000 condition_record_support_limited 20 0 1 Sparse_scalp_hair 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HDAC8 human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Polycystic kidney disease Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 1 1 1.0000 condition_record_support_limited 20 0 1 Polycystic_kidney_disease 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HDAC8 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HDAC8 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HDAC8 hdac8_related_disorder HDAC8-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 HDAC8-related_disorder 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HDAC8 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HDAC8 human_phenotype_ontology_hp_0001511_human_phenotype_ontology_hp_0001515_human_phenotype_ontology_hp_0008862_human_phenotype_ontology_hp_0008892_human_phenotype_ontology_hp_0008931_mondo_mondo_0005030_medgen_c0015934 Fetal growth restriction Human_Phenotype_Ontology:HP:0001511,Human_Phenotype_Ontology:HP:0001515,Human_Phenotype_Ontology:HP:0008862,Human_Phenotype_Ontology:HP:0008892,Human_Phenotype_Ontology:HP:0008931,MONDO:MONDO:0005030,MedGen:C0015934 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_growth_restriction 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HDAC8 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HDAC8 human_phenotype_ontology_hp_0001158_human_phenotype_ontology_hp_0001588_human_phenotype_ontology_hp_0004209_human_phenotype_ontology_hp_0004212_human_phenotype_ontology_hp_0006083_human_phenotype_ontology_hp_0006181_human_phenotype_ontology_hp_0009181_medgen_c1850049 Clinodactyly of the 5th finger Human_Phenotype_Ontology:HP:0001158,Human_Phenotype_Ontology:HP:0001588,Human_Phenotype_Ontology:HP:0004209,Human_Phenotype_Ontology:HP:0004212,Human_Phenotype_Ontology:HP:0006083,Human_Phenotype_Ontology:HP:0006181,Human_Phenotype_Ontology:HP:0009181,MedGen:C1850049 1 1 1.0000 condition_record_support_limited 20 0 1 Clinodactyly_of_the_5th_finger 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HDAC8 human_phenotype_ontology_hp_0001630_human_phenotype_ontology_hp_0001631_mondo_mondo_0006664_medgen_c0018817_omim_ps108800_orphanet_1478 Atrial septal defect Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478 1 1 1.0000 condition_record_support_limited 20 0 1 Atrial_septal_defect 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HDAC8 human_phenotype_ontology_hp_0000271_medgen_c4025871 Abnormality of the face Human_Phenotype_Ontology:HP:0000271,MedGen:C4025871 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_face 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HDAC8 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HDAC8 human_phenotype_ontology_hp_0010705_medgen_c4023731 4-5 finger cutaneous syndactyly Human_Phenotype_Ontology:HP:0010705,MedGen:C4023731 1 1 1.0000 condition_record_support_limited 20 0 1 4-5_finger_cutaneous_syndactyly 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HDAC4 human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 12 low_record_burden_interpretation_limited low_record_burden_gene HDAC4 human_phenotype_ontology_hp_0002187_medgen_c3161330 Profound intellectual disability Human_Phenotype_Ontology:HP:0002187,MedGen:C3161330 1 1 1.0000 condition_record_support_limited 20 0 1 Profound_intellectual_disability 12 low_record_burden_interpretation_limited low_record_burden_gene HDAC4 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 12 low_record_burden_interpretation_limited low_record_burden_gene HDAC4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 12 low_record_burden_interpretation_limited low_record_burden_gene HDAC4 hdac4_related_disorder HDAC4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 HDAC4-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene HDAC4 medgen_c0265312 Brachydactyly syndrome type E MedGen:C0265312 1 1 1.0000 condition_record_support_limited 20 0 1 Brachydactyly_syndrome_type_E 12 low_record_burden_interpretation_limited low_record_burden_gene HDAC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 1 low_record_burden_interpretation_limited low_record_burden_gene HCRT mondo_mondo_0008062_medgen_c1834372_omim_161400_orphanet_2073 Narcolepsy 1 MONDO:MONDO:0008062,MedGen:C1834372,OMIM:161400,Orphanet:2073 1 1 1.0000 condition_record_support_limited 20 0 0 Narcolepsy_1 1 low_record_burden_interpretation_limited low_record_burden_gene HCN2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 13 low_record_burden_interpretation_limited low_record_burden_gene HCN2 mondo_mondo_0011231_medgen_c1865342 Febrile seizures, familial, 2 MONDO:MONDO:0011231,MedGen:C1865342 1 1 1.0000 condition_record_support_limited 20 0 0 Febrile_seizures,_familial,_2 13 low_record_burden_interpretation_limited low_record_burden_gene HCN2 mondo_mondo_0100519_medgen_c5561931_omim_602477 Epilepsy, idiopathic generalized, susceptibility to, 17 MONDO:MONDO:0100519,MedGen:C5561931,OMIM:602477 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy,_idiopathic_generalized,_susceptibility_to,_17 13 low_record_burden_interpretation_limited low_record_burden_gene HCN2 mondo_mondo_0859228_medgen_c5676915_omim_619743 Combined oxidative phosphorylation deficiency 55 MONDO:MONDO:0859228,MedGen:C5676915,OMIM:619743 1 1 1.0000 condition_record_support_limited 20 0 1 Combined_oxidative_phosphorylation_deficiency_55 13 low_record_burden_interpretation_limited low_record_burden_gene HCN1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HCN1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HCN1 human_phenotype_ontology_hp_0002175_human_phenotype_ontology_hp_0002373_human_phenotype_ontology_hp_0007102_medgen_c0009952 Febrile seizure (within the age range of 3 months to 6 years) Human_Phenotype_Ontology:HP:0002175,Human_Phenotype_Ontology:HP:0002373,Human_Phenotype_Ontology:HP:0007102,MedGen:C0009952 1 1 1.0000 condition_record_support_limited 20 0 1 Febrile_seizure_(within_the_age_range_of_3_months_to_6_years) 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HCN1 human_phenotype_ontology_hp_0000551_medgen_c0234629 Color vision defect Human_Phenotype_Ontology:HP:0000551,MedGen:C0234629 1 1 1.0000 condition_record_support_limited 20 0 1 Color_vision_defect 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HCK condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene HCK mondo_mondo_0957204_medgen_c5830371_omim_620296 Autoinflammation with pulmonary and cutaneous vasculitis MONDO:MONDO:0957204,MedGen:C5830371,OMIM:620296 1 1 1.0000 condition_record_support_limited 20 0 0 Autoinflammation_with_pulmonary_and_cutaneous_vasculitis 2 low_record_burden_interpretation_limited low_record_burden_gene HCFC1 hcfc1_related_disorders HCFC1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 HCFC1-related_disorders 13 low_record_burden_interpretation_limited low_record_burden_gene HCCS hccs_related_disorder HCCS-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 HCCS-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene HBG1 medgen_c3891817 Sardinian HPFH MedGen:C3891817 1 1 1.0000 condition_record_support_limited 20 0 1 Sardinian_HPFH 6 low_record_burden_interpretation_limited low_record_burden_gene HBG1 medgen_c4017537 Greek HPFH MedGen:C4017537 1 1 1.0000 condition_record_support_limited 20 0 1 Greek_HPFH 6 low_record_burden_interpretation_limited low_record_burden_gene HBG1 medgen_c4017538 British HPFH MedGen:C4017538 1 1 1.0000 condition_record_support_limited 20 0 1 British_HPFH 6 low_record_burden_interpretation_limited low_record_burden_gene HBD mondo_mondo_0011399_medgen_c0002312_omim_604131_orphanet_846 alpha Thalassemia MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846 1 1 1.0000 condition_record_support_limited 20 0 1 alpha_Thalassemia 14 low_record_burden_interpretation_limited low_record_burden_gene HBD human_phenotype_ontology_hp_0011906_medgen_c4023137 Reduced beta/alpha synthesis ratio Human_Phenotype_Ontology:HP:0011906,MedGen:C4023137 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_beta/alpha_synthesis_ratio 14 low_record_burden_interpretation_limited low_record_burden_gene HBD human_phenotype_ontology_hp_0011904_medgen_c0239941 Persistence of hemoglobin F Human_Phenotype_Ontology:HP:0011904,MedGen:C0239941 1 1 1.0000 condition_record_support_limited 20 0 1 Persistence_of_hemoglobin_F 14 low_record_burden_interpretation_limited low_record_burden_gene HBD hemoglobin_a_2_grovetown HEMOGLOBIN A(2) GROVETOWN . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_A(2)_GROVETOWN 14 low_record_burden_interpretation_limited low_record_burden_gene HBD hemoglobin_a_2_babinga HEMOGLOBIN A(2) BABINGA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_A(2)_BABINGA 14 low_record_burden_interpretation_limited low_record_burden_gene HBD medgen_c4016190 Delta-plus-thalassemia MedGen:C4016190 1 1 1.0000 condition_record_support_limited 20 0 0 Delta-plus-thalassemia 14 low_record_burden_interpretation_limited low_record_burden_gene HBD human_phenotype_ontology_hp_0001903_human_phenotype_ontology_hp_0001926_human_phenotype_ontology_hp_0003136_human_phenotype_ontology_hp_0005509_mondo_mondo_0002280_medgen_c0002871 Anemia Human_Phenotype_Ontology:HP:0001903,Human_Phenotype_Ontology:HP:0001926,Human_Phenotype_Ontology:HP:0003136,Human_Phenotype_Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871 1 1 1.0000 condition_record_support_limited 20 0 1 Anemia 14 low_record_burden_interpretation_limited low_record_burden_gene HBD human_phenotype_ontology_hp_0011902_medgen_c0349705 Abnormal hemoglobin Human_Phenotype_Ontology:HP:0011902,MedGen:C0349705 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_hemoglobin 14 low_record_burden_interpretation_limited low_record_burden_gene HBB medgen_c1264000 Sickle cell-Hemoglobin O Arab disease MedGen:C1264000 1 1 1.0000 condition_record_support_limited 20 0 1 Sickle_cell-Hemoglobin_O_Arab_disease 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB human_phenotype_ontology_hp_0011906_medgen_c4023137 Reduced beta/alpha synthesis ratio Human_Phenotype_Ontology:HP:0011906,MedGen:C4023137 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_beta/alpha_synthesis_ratio 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB human_phenotype_ontology_hp_0011904_medgen_c0239941 Persistence of hemoglobin F Human_Phenotype_Ontology:HP:0011904,MedGen:C0239941 1 1 1.0000 condition_record_support_limited 20 0 1 Persistence_of_hemoglobin_F 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB mondo_mondo_0019050_medgen_cn294187_orphanet_68364 Inherited hemoglobinopathy MONDO:MONDO:0019050,MedGen:CN294187,Orphanet:68364 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_hemoglobinopathy 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB mondo_mondo_0016491_medgen_c0472777_orphanet_231249 Hemoglobin E/beta thalassemia disease MONDO:MONDO:0016491,MedGen:C0472777,Orphanet:231249 1 1 1.0000 condition_record_support_limited 20 0 1 Hemoglobin_E/beta_thalassemia_disease 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB mondo_mondo_0016243_medgen_c0238159_orphanet_2133 Hemoglobin E disease MONDO:MONDO:0016243,MedGen:C0238159,Orphanet:2133 1 1 1.0000 condition_record_support_limited 20 0 1 Hemoglobin_E_disease 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB medgen_c3889325 Hemoglobin E MedGen:C3889325 1 1 1.0000 condition_record_support_limited 20 0 1 Hemoglobin_E 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB mondo_mondo_0019537_medgen_c0272080_orphanet_90039 Hemoglobin D disease MONDO:MONDO:0019537,MedGen:C0272080,Orphanet:90039 1 1 1.0000 condition_record_support_limited 20 0 1 Hemoglobin_D_disease 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hb_d_los_angeles Hb D-Los Angeles . 1 1 1.0000 condition_record_support_limited 20 0 1 Hb_D-Los_Angeles 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_zurich HEMOGLOBIN ZURICH . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_ZURICH 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_zengcheng HEMOGLOBIN ZENGCHENG . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_ZENGCHENG 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_ypsilanti HEMOGLOBIN YPSILANTI . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_YPSILANTI 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_york HEMOGLOBIN YORK . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_YORK 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_yakima HEMOGLOBIN YAKIMA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_YAKIMA 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_wood HEMOGLOBIN WOOD . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_WOOD 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_volga HEMOGLOBIN VOLGA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_VOLGA 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_vanderbilt HEMOGLOBIN VANDERBILT . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_VANDERBILT 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_terre_haute HEMOGLOBIN TERRE HAUTE . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_TERRE_HAUTE 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_syracuse HEMOGLOBIN SYRACUSE . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_SYRACUSE 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_st_louis HEMOGLOBIN ST. LOUIS . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_ST._LOUIS 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_showa_yakushiji HEMOGLOBIN SHOWA-YAKUSHIJI . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_SHOWA-YAKUSHIJI 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_shanghai HEMOGLOBIN SHANGHAI . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_SHANGHAI 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_santa_clara HEMOGLOBIN SANTA CLARA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_SANTA_CLARA 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_santa_ana HEMOGLOBIN SANTA ANA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_SANTA_ANA 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_san_diego HEMOGLOBIN SAN DIEGO . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_SAN_DIEGO 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_saint_jacques HEMOGLOBIN SAINT JACQUES . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_SAINT_JACQUES 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_saint_etienne HEMOGLOBIN SAINT ETIENNE . 1 1 1.0000 condition_record_support_limited 20 0 0 HEMOGLOBIN_SAINT_ETIENNE 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_sabine HEMOGLOBIN SABINE . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_SABINE 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB medgen_c3888302 HEMOGLOBIN S MedGen:C3888302 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_S 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_rush HEMOGLOBIN RUSH . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_RUSH 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_rockford HEMOGLOBIN ROCKFORD . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_ROCKFORD 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_rainier HEMOGLOBIN RAINIER . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_RAINIER 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_rahere HEMOGLOBIN RAHERE . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_RAHERE 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_radcliffe HEMOGLOBIN RADCLIFFE . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_RADCLIFFE 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_puttelange HEMOGLOBIN PUTTELANGE . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_PUTTELANGE 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_providence HEMOGLOBIN PROVIDENCE . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_PROVIDENCE 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_potomac HEMOGLOBIN POTOMAC . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_POTOMAC 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_pierre_benite HEMOGLOBIN PIERRE-BENITE . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_PIERRE-BENITE 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_perth HEMOGLOBIN PERTH . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_PERTH 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_palmerston_north HEMOGLOBIN PALMERSTON NORTH . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_PALMERSTON_NORTH 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_olympia HEMOGLOBIN OLYMPIA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_OLYMPIA 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_o_arab HEMOGLOBIN O (ARAB) . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_O_(ARAB) 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_n_timone HEMOGLOBIN N (TIMONE) . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_N_(TIMONE) 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_mizuho HEMOGLOBIN MIZUHO . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_MIZUHO 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_miyada HEMOGLOBIN MIYADA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_MIYADA 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_mckees_rocks HEMOGLOBIN MCKEES ROCKS . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_MCKEES_ROCKS 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_manhattan HEMOGLOBIN MANHATTAN . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_MANHATTAN 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_malmo HEMOGLOBIN MALMO . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_MALMO 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_malay HEMOGLOBIN MALAY . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_MALAY 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_madrid HEMOGLOBIN MADRID . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_MADRID 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_m_saskatoon HEMOGLOBIN M (SASKATOON) . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_M_(SASKATOON) 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_m_radom_methemoglobinemia_beta_type HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_M_(RADOM)_METHEMOGLOBINEMIA,_BETA_TYPE 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_m_milwaukee_2 HEMOGLOBIN M (MILWAUKEE 2) . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_M_(MILWAUKEE_2) 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_m_milwaukee_1 HEMOGLOBIN M (MILWAUKEE 1) . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_M_(MILWAUKEE_1) 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_m_hyde_park HEMOGLOBIN M (HYDE PARK) . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_M_(HYDE_PARK) 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_m_akita HEMOGLOBIN M (AKITA) . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_M_(AKITA) 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_lufkin HEMOGLOBIN LUFKIN . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_LUFKIN 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_leiden HEMOGLOBIN LEIDEN . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_LEIDEN 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_korea HEMOGLOBIN KOREA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_KOREA 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_kobe HEMOGLOBIN KOBE . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_KOBE 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_knossos HEMOGLOBIN KNOSSOS . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_KNOSSOS 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_kempsey HEMOGLOBIN KEMPSEY . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_KEMPSEY 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_johnstown HEMOGLOBIN JOHNSTOWN . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_JOHNSTOWN 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_indianapolis HEMOGLOBIN INDIANAPOLIS . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_INDIANAPOLIS 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_hyogo HEMOGLOBIN HYOGO . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_HYOGO 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_hotel_dieu HEMOGLOBIN HOTEL-DIEU . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_HOTEL-DIEU 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_hiroshima HEMOGLOBIN HIROSHIMA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_HIROSHIMA 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_helsinki HEMOGLOBIN HELSINKI . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_HELSINKI 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_heathrow HEMOGLOBIN HEATHROW . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_HEATHROW 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_hana HEMOGLOBIN HANA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_HANA 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_hammersmith HEMOGLOBIN HAMMERSMITH . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_HAMMERSMITH 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_great_lakes HEMOGLOBIN GREAT LAKES . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_GREAT_LAKES 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_genova HEMOGLOBIN GENOVA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_GENOVA 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_egypt HEMOGLOBIN EGYPT . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_EGYPT 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_durham_n_c HEMOGLOBIN DURHAM-N.C . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_DURHAM-N.C. 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_drenthe HEMOGLOBIN DRENTHE . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_DRENTHE 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_dieppe HEMOGLOBIN DIEPPE . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_DIEPPE 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_creteil HEMOGLOBIN CRETEIL . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_CRETEIL 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_cowtown HEMOGLOBIN COWTOWN . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_COWTOWN 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_chico HEMOGLOBIN CHICO . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_CHICO 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_chiba HEMOGLOBIN CHIBA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_CHIBA 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_chemilly HEMOGLOBIN CHEMILLY . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_CHEMILLY 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_cagliari HEMOGLOBIN CAGLIARI . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_CAGLIARI 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_c HEMOGLOBIN C . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_C 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_british_columbia HEMOGLOBIN BRITISH COLUMBIA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_BRITISH_COLUMBIA 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_bristol HEMOGLOBIN BRISTOL . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_BRISTOL 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_brisbane HEMOGLOBIN BRISBANE . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_BRISBANE 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_brigham HEMOGLOBIN BRIGHAM . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_BRIGHAM 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_brescia HEMOGLOBIN BRESCIA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_BRESCIA 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_boras HEMOGLOBIN BORAS . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_BORAS 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_bethesda HEMOGLOBIN BETHESDA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_BETHESDA 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_barcelona HEMOGLOBIN BARCELONA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_BARCELONA 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_arta HEMOGLOBIN ARTA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_ARTA 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_andrew_minneapolis HEMOGLOBIN ANDREW-MINNEAPOLIS . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_ANDREW-MINNEAPOLIS 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_alesha HEMOGLOBIN ALESHA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_ALESHA 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_alberta HEMOGLOBIN ALBERTA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_ALBERTA 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_abruzzo HEMOGLOBIN ABRUZZO . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_ABRUZZO 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hemoglobin_abraham_lincoln HEMOGLOBIN ABRAHAM LINCOLN . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_ABRAHAM_LINCOLN 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB hbb_related_hemoglobinopathies HBB-related hemoglobinopathies . 1 1 1.0000 condition_record_support_limited 20 0 1 HBB-related_hemoglobinopathies 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB medgen_c1527405 Erythrocytosis MedGen:C1527405 1 1 1.0000 condition_record_support_limited 20 0 1 Erythrocytosis 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB medgen_c4017522 Beta-Showa-Yakushiji thalassemia MedGen:C4017522 1 1 1.0000 condition_record_support_limited 20 0 1 Beta-Showa-Yakushiji_thalassemia 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB medgen_c4017510 Beta-Malay-thalassemia MedGen:C4017510 1 1 1.0000 condition_record_support_limited 20 0 1 Beta-Malay-thalassemia 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB medgen_c4017494 Beta-Knossos-thalassemia MedGen:C4017494 1 1 1.0000 condition_record_support_limited 20 0 1 Beta-Knossos-thalassemia 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB medgen_c4017528 BETA-THALASSEMIA, LERMONTOV TYPE MedGen:C4017528 1 1 1.0000 condition_record_support_limited 20 0 1 BETA-THALASSEMIA,_LERMONTOV_TYPE 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB medgen_c4017525 BETA-PLUS-THALASSEMIA, DOMINANT MedGen:C4017525 1 1 1.0000 condition_record_support_limited 20 0 1 BETA-PLUS-THALASSEMIA,_DOMINANT 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB mondo_mondo_0016244_medgen_c2931788_orphanet_2134 Atypical hemolytic-uremic syndrome MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134 1 1 1.0000 condition_record_support_limited 20 0 1 Atypical_hemolytic-uremic_syndrome 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBB human_phenotype_ontology_hp_0011902_medgen_c0349705 Abnormal hemoglobin Human_Phenotype_Ontology:HP:0011902,MedGen:C0349705 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_hemoglobin 428 compact_adjacent_exon_block_opportunity local_compact_architecture HBA2 mondo_mondo_0000984_medgen_c0039730 Thalassemia MONDO:MONDO:0000984,MedGen:C0039730 1 1 1.0000 condition_record_support_limited 20 0 1 Thalassemia 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 human_phenotype_ontology_hp_0001744_human_phenotype_ontology_hp_0001745_human_phenotype_ontology_hp_0006269_medgen_c0038002 Splenomegaly Human_Phenotype_Ontology:HP:0001744,Human_Phenotype_Ontology:HP:0001745,Human_Phenotype_Ontology:HP:0006269,MedGen:C0038002 1 1 1.0000 condition_record_support_limited 20 0 1 Splenomegaly 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 1.0000 condition_record_support_limited 20 0 1 Non-immune_hydrops_fetalis 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 medgen_c3891114 Hemoglobin constant spring MedGen:C3891114 1 1 1.0000 condition_record_support_limited 20 0 1 Hemoglobin_constant_spring 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 hemoglobin_quong_sze Hemoglobin Quong Sze . 1 1 1.0000 condition_record_support_limited 20 0 1 Hemoglobin_Quong_Sze 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 hemoglobin_zurich_albisrieden HEMOGLOBIN ZURICH ALBISRIEDEN . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_ZURICH_ALBISRIEDEN 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 hemoglobin_suan_dok HEMOGLOBIN SUAN-DOK . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_SUAN-DOK 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 hemoglobin_sinai HEMOGLOBIN SINAI . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_SINAI 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 hemoglobin_sealy HEMOGLOBIN SEALY . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_SEALY 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 hemoglobin_seal_rock HEMOGLOBIN SEAL ROCK . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_SEAL_ROCK 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 hemoglobin_sallanches HEMOGLOBIN SALLANCHES . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_SALLANCHES 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 hemoglobin_plasencia HEMOGLOBIN PLASENCIA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_PLASENCIA 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 hemoglobin_l_ferrara HEMOGLOBIN L (FERRARA) . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_L_(FERRARA) 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 hemoglobin_koya_dora HEMOGLOBIN KOYA DORA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_KOYA_DORA 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 hemoglobin_kanagawa HEMOGLOBIN KANAGAWA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_KANAGAWA 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 hemoglobin_j_buda HEMOGLOBIN J (BUDA) . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_J_(BUDA) 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 hemoglobin_icaria HEMOGLOBIN ICARIA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_ICARIA 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 hemoglobin_hirosaki HEMOGLOBIN HIROSAKI . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_HIROSAKI 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 hemoglobin_hasharon HEMOGLOBIN HASHARON . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_HASHARON 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 hemoglobin_hanamaki HEMOGLOBIN HANAMAKI . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_HANAMAKI 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 hemoglobin_dartmouth HEMOGLOBIN DARTMOUTH . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_DARTMOUTH 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 hemoglobin_columbia_missouri HEMOGLOBIN COLUMBIA MISSOURI . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_COLUMBIA_MISSOURI 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 hemoglobin_clinico_madrid HEMOGLOBIN CLINICO-MADRID . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_CLINICO-MADRID 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 hemoglobin_agrinio HEMOGLOBIN AGRINIO . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_AGRINIO 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 human_phenotype_ontology_hp_0001903_human_phenotype_ontology_hp_0001926_human_phenotype_ontology_hp_0003136_human_phenotype_ontology_hp_0005509_mondo_mondo_0002280_medgen_c0002871 Anemia Human_Phenotype_Ontology:HP:0001903,Human_Phenotype_Ontology:HP:0001926,Human_Phenotype_Ontology:HP:0003136,Human_Phenotype_Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871 1 1 1.0000 condition_record_support_limited 20 0 1 Anemia 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 medgen_c4016148 Alpha-thalassemia-2, nondeletional MedGen:C4016148 1 1 1.0000 condition_record_support_limited 20 0 1 Alpha-thalassemia-2,_nondeletional 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 medgen_c4016158 Alpha-thalassemia, Hmong type MedGen:C4016158 1 1 1.0000 condition_record_support_limited 20 0 1 Alpha-thalassemia,_Hmong_type 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 medgen_c5680751_orphanet_275745 Alpha-thalassemia and related diseases MedGen:C5680751,Orphanet:275745 1 1 1.0000 condition_record_support_limited 20 0 1 Alpha-thalassemia_and_related_diseases 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 medgen_c0472762 Alpha trait thalassemia MedGen:C0472762 1 1 1.0000 condition_record_support_limited 20 0 1 Alpha_trait_thalassemia 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA2 human_phenotype_ontology_hp_0011902_medgen_c0349705 Abnormal hemoglobin Human_Phenotype_Ontology:HP:0011902,MedGen:C0349705 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_hemoglobin 176 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 human_phenotype_ontology_hp_0001744_human_phenotype_ontology_hp_0001745_human_phenotype_ontology_hp_0006269_medgen_c0038002 Splenomegaly Human_Phenotype_Ontology:HP:0001744,Human_Phenotype_Ontology:HP:0001745,Human_Phenotype_Ontology:HP:0006269,MedGen:C0038002 1 1 1.0000 condition_record_support_limited 20 0 1 Splenomegaly 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 medgen_c3891114 Hemoglobin constant spring MedGen:C3891114 1 1 1.0000 condition_record_support_limited 20 0 1 Hemoglobin_constant_spring 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hemoglobin_tunis_bizerte HEMOGLOBIN TUNIS-BIZERTE . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_TUNIS-BIZERTE 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hemoglobin_toyama HEMOGLOBIN TOYAMA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_TOYAMA 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hemoglobin_taybe HEMOGLOBIN TAYBE . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_TAYBE 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hemoglobin_suresnes HEMOGLOBIN SURESNES . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_SURESNES 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hemoglobin_sassari HEMOGLOBIN SASSARI . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_SASSARI 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hemoglobin_rouen HEMOGLOBIN ROUEN . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_ROUEN 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hemoglobin_petah_tikva HEMOGLOBIN PETAH TIKVA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_PETAH_TIKVA 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hemoglobin_nunobiki HEMOGLOBIN NUNOBIKI . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_NUNOBIKI 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hemoglobin_milledgeville HEMOGLOBIN MILLEDGEVILLE . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_MILLEDGEVILLE 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hemoglobin_m_sendai HEMOGLOBIN M (SENDAI) . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_M_(SENDAI) 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hemoglobin_m_oldenburg HEMOGLOBIN M (OLDENBURG) . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_M_(OLDENBURG) 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hemoglobin_m_kankakee HEMOGLOBIN M (KANKAKEE) . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_M_(KANKAKEE) 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hemoglobin_m_iwate HEMOGLOBIN M (IWATE) . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_M_(IWATE) 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hemoglobin_loire HEMOGLOBIN LOIRE . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_LOIRE 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hemoglobin_legnano HEMOGLOBIN LEGNANO . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_LEGNANO 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hemoglobin_kanagawa HEMOGLOBIN KANAGAWA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_KANAGAWA 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hemoglobin_j_cape_town HEMOGLOBIN J (CAPE TOWN) . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_J_(CAPE_TOWN) 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hemoglobin_hirosaki HEMOGLOBIN HIROSAKI . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_HIROSAKI 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hemoglobin_ethiopia HEMOGLOBIN ETHIOPIA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_ETHIOPIA 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hemoglobin_chesapeake HEMOGLOBIN CHESAPEAKE . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_CHESAPEAKE 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hemoglobin_aghia_sophia HEMOGLOBIN AGHIA SOPHIA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_AGHIA_SOPHIA 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 hemoglobin_adana HEMOGLOBIN ADANA . 1 1 1.0000 condition_record_support_limited 20 0 1 HEMOGLOBIN_ADANA 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 human_phenotype_ontology_hp_0001903_human_phenotype_ontology_hp_0001926_human_phenotype_ontology_hp_0003136_human_phenotype_ontology_hp_0005509_mondo_mondo_0002280_medgen_c0002871 Anemia Human_Phenotype_Ontology:HP:0001903,Human_Phenotype_Ontology:HP:0001926,Human_Phenotype_Ontology:HP:0003136,Human_Phenotype_Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871 1 1 1.0000 condition_record_support_limited 20 0 1 Anemia 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HBA1 medgen_c5680751_orphanet_275745 Alpha-thalassemia and related diseases MedGen:C5680751,Orphanet:275745 1 1 1.0000 condition_record_support_limited 20 0 1 Alpha-thalassemia_and_related_diseases 139 repeat_or_mechanism_complex_replacement_case mechanism_complex_limitation HAX1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HAX1 hax1_related_disorder HAX1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 HAX1-related_disorder 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HARS1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene HARS1 human_phenotype_ontology_hp_0000012_medgen_c0085606 Urinary urgency Human_Phenotype_Ontology:HP:0000012,MedGen:C0085606 1 1 1.0000 condition_record_support_limited 20 0 1 Urinary_urgency 10 low_record_burden_interpretation_limited low_record_burden_gene HARS1 human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 1.0000 condition_record_support_limited 20 0 1 Scoliosis 10 low_record_burden_interpretation_limited low_record_burden_gene HARS1 human_phenotype_ontology_hp_0001763_mondo_mondo_0005293_medgen_c0016202 Pes planus Human_Phenotype_Ontology:HP:0001763,MONDO:MONDO:0005293,MedGen:C0016202 1 1 1.0000 condition_record_support_limited 20 0 1 Pes_planus 10 low_record_burden_interpretation_limited low_record_burden_gene HARS1 human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Motor delay Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 1.0000 condition_record_support_limited 20 0 1 Motor_delay 10 low_record_burden_interpretation_limited low_record_burden_gene HARS1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 10 low_record_burden_interpretation_limited low_record_burden_gene HARS1 human_phenotype_ontology_hp_0001380_human_phenotype_ontology_hp_0001383_human_phenotype_ontology_hp_0001388_human_phenotype_ontology_hp_0002771_medgen_c0086437 Joint laxity Human_Phenotype_Ontology:HP:0001380,Human_Phenotype_Ontology:HP:0001383,Human_Phenotype_Ontology:HP:0001388,Human_Phenotype_Ontology:HP:0002771,MedGen:C0086437 1 1 1.0000 condition_record_support_limited 20 0 1 Joint_laxity 10 low_record_burden_interpretation_limited low_record_burden_gene HARS1 human_phenotype_ontology_hp_0001765_medgen_c1136179 Hammertoe Human_Phenotype_Ontology:HP:0001765,MedGen:C1136179 1 1 1.0000 condition_record_support_limited 20 0 1 Hammertoe 10 low_record_burden_interpretation_limited low_record_burden_gene HARS1 hars1_related_multi_system_ataxia_syndrome HARS1-related multi-system ataxia syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 HARS1-related_multi-system_ataxia_syndrome 10 low_record_burden_interpretation_limited low_record_burden_gene HARS1 human_phenotype_ontology_hp_0002460_human_phenotype_ontology_hp_0002598_human_phenotype_ontology_hp_0002935_human_phenotype_ontology_hp_0003497_human_phenotype_ontology_hp_0006940_human_phenotype_ontology_hp_0009008_medgen_c0427065 Distal muscle weakness Human_Phenotype_Ontology:HP:0002460,Human_Phenotype_Ontology:HP:0002598,Human_Phenotype_Ontology:HP:0002935,Human_Phenotype_Ontology:HP:0003497,Human_Phenotype_Ontology:HP:0006940,Human_Phenotype_Ontology:HP:0009008,MedGen:C0427065 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_muscle_weakness 10 low_record_burden_interpretation_limited low_record_burden_gene HARS1 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 10 low_record_burden_interpretation_limited low_record_burden_gene HAO1 glycolate_oxidase_deficiency glycolate oxidase deficiency . 1 1 1.0000 condition_record_support_limited 20 0 0 glycolate_oxidase_deficiency 1 low_record_burden_interpretation_limited low_record_burden_gene HAND2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene HAND2 mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 Dilated cardiomyopathy 1A MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 1 1 1.0000 condition_record_support_limited 20 0 0 Dilated_cardiomyopathy_1A 2 low_record_burden_interpretation_limited low_record_burden_gene HAMP condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene HAMP medgen_c3150862 Hemochromatosis, juvenile, digenic MedGen:C3150862 1 1 1.0000 condition_record_support_limited 20 0 0 Hemochromatosis,_juvenile,_digenic 8 low_record_burden_interpretation_limited low_record_burden_gene HAL human_phenotype_ontology_hp_0010906_mondo_mondo_0009345_medgen_c0220992_omim_235800_orphanet_2157 Histidinemia Human_Phenotype_Ontology:HP:0010906,MONDO:MONDO:0009345,MedGen:C0220992,OMIM:235800,Orphanet:2157 1 1 1.0000 condition_record_support_limited 20 0 0 Histidinemia 1 low_record_burden_interpretation_limited low_record_burden_gene HADHB medgen_c5830693 Mitochondrial trifunctional protein deficiency 2 with myopathy and neuropathy MedGen:C5830693 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_trifunctional_protein_deficiency_2_with_myopathy_and_neuropathy 101 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HADHB hadha_related_disorder HADHA-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 HADHA-related_disorder 101 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HADHA mondo_mondo_0005066_medgen_c0025517 Metabolic disease MONDO:MONDO:0005066,MedGen:C0025517 1 1 1.0000 condition_record_support_limited 20 0 1 Metabolic_disease 238 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HADHA medgen_c1833202 LCHAD deficiency with maternal acute fatty liver of pregnancy MedGen:C1833202 1 1 1.0000 condition_record_support_limited 20 0 1 LCHAD_deficiency_with_maternal_acute_fatty_liver_of_pregnancy 238 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HADH mondo_mondo_0017182_medgen_c3888018_orphanet_276525 Familial hyperinsulinism MONDO:MONDO:0017182,MedGen:C3888018,Orphanet:276525 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_hyperinsulinism 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HACL1 mondo_mondo_0005439_medgen_c0020445_omim_ps143890 Familial hypercholesterolemia MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_hypercholesterolemia 1 low_record_burden_interpretation_limited low_record_burden_gene HACE1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HACE1 medgen_c5441816 Psychomotor retardation MedGen:C5441816 1 1 1.0000 condition_record_support_limited 20 0 0 Psychomotor_retardation 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HACE1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HACE1 hace1_related_neurodevelopmental_disorder HACE1-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 HACE1-related_neurodevelopmental_disorder 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HACE1 hace1_related_disorder HACE1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 HACE1-related_disorder 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HACE1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HACE1 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture HAAO monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 0 Monogenic_hearing_loss 10 low_record_burden_interpretation_limited low_record_burden_gene H4C5 h4c5_related_disorder H4C5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 H4C5-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene H4C3 hist1h4c_associated_disorder HIST1H4C-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 HIST1H4C-associated_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene H4C3 h4c3_related_disorder H4C3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 H4C3-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene H4C3 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 9 low_record_burden_interpretation_limited low_record_burden_gene H3C1 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 1 low_record_burden_interpretation_limited low_record_burden_gene H3-3B mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture H3-3B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture H3-3B h3_3b_related_disorder H3-3B-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 H3-3B-related_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture H3-3A mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture H2AP human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene H2AC17 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 1 low_record_burden_interpretation_limited low_record_burden_gene H2AC16 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 1 low_record_burden_interpretation_limited low_record_burden_gene H1-4 mondo_mondo_0012589_medgen_c1970431_omim_610954_orphanet_2896 Pitt-Hopkins syndrome MONDO:MONDO:0012589,MedGen:C1970431,OMIM:610954,Orphanet:2896 1 1 1.0000 condition_record_support_limited 20 0 1 Pitt-Hopkins_syndrome 36 single_exon_hotspot_opportunity local_compact_architecture H1-4 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 36 single_exon_hotspot_opportunity local_compact_architecture H1-4 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 36 single_exon_hotspot_opportunity local_compact_architecture H1-4 hist1h1e_related_neurodevelopmental_disorder_with_multiple_anomalies HIST1H1E-related neurodevelopmental disorder with multiple anomalies . 1 1 1.0000 condition_record_support_limited 20 0 1 HIST1H1E-related_neurodevelopmental_disorder_with_multiple_anomalies 36 single_exon_hotspot_opportunity local_compact_architecture H1-4 h1_4_related_disorder H1-4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 H1-4-related_disorder 36 single_exon_hotspot_opportunity local_compact_architecture H1-4 medgen_c2732267 Auditory neuropathy spectrum disorder MedGen:C2732267 1 1 1.0000 condition_record_support_limited 20 0 1 Auditory_neuropathy_spectrum_disorder 36 single_exon_hotspot_opportunity local_compact_architecture GYS1 mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 Glycogen storage disease MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 1 1 1.0000 condition_record_support_limited 20 0 0 Glycogen_storage_disease 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GYPA medgen_c4694044 BLOOD GROUP ERIK MedGen:C4694044 1 1 1.0000 condition_record_support_limited 20 0 0 BLOOD_GROUP_ERIK 1 low_record_burden_interpretation_limited low_record_burden_gene GYG1 mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 Glycogen storage disease MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 1 1 1.0000 condition_record_support_limited 20 0 1 Glycogen_storage_disease 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GYG1 gyg1_related_disorder GYG1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GYG1-related_disorder 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GYG1 human_phenotype_ontology_hp_0008942_medgen_c3807306 Acute rhabdomyolysis Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_rhabdomyolysis 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUSB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUF1 mondo_mondo_0014895_medgen_c4310737_omim_617065_orphanet_3451 Developmental and epileptic encephalopathy, 40 MONDO:MONDO:0014895,MedGen:C4310737,OMIM:617065,Orphanet:3451 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_40 1 low_record_burden_interpretation_limited low_record_burden_gene GUCY2D maculopathy maculopathy . 1 1 1.0000 condition_record_support_limited 20 0 0 maculopathy 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2D human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Visual impairment Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 1.0000 condition_record_support_limited 20 0 1 Visual_impairment 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2D medgen_c0271092 Progressive cone dystrophy (without rod involvement) MedGen:C0271092 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_cone_dystrophy_(without_rod_involvement) 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2D mondo_mondo_0100605_medgen_c5679947_orphanet_289494 POLR-related leukodystrophy MONDO:MONDO:0100605,MedGen:C5679947,Orphanet:289494 1 1 1.0000 condition_record_support_limited 20 0 1 POLR-related_leukodystrophy 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2D human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 1.0000 condition_record_support_limited 20 0 1 Optic_atrophy 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2D human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 1.0000 condition_record_support_limited 20 0 1 Macular_dystrophy 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2D mondo_mondo_0100454_medgen_cn305604 GUCY2D retinopathy MONDO:MONDO:0100454,MedGen:CN305604 1 1 1.0000 condition_record_support_limited 20 0 1 GUCY2D_retinopathy 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2D human_phenotype_ontology_hp_0007706_human_phenotype_ontology_hp_0007875_medgen_c0005754 Congenital blindness Human_Phenotype_Ontology:HP:0007706,Human_Phenotype_Ontology:HP:0007875,MedGen:C0005754 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_blindness 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2D mondo_mondo_0011680_medgen_c3539888_omim_606545 Autosomal recessive congenital ichthyosis 3 MONDO:MONDO:0011680,MedGen:C3539888,OMIM:606545 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_congenital_ichthyosis_3 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCY2C human_phenotype_ontology_hp_0006571_medgen_c4021591 Reduced number of intrahepatic bile ducts Human_Phenotype_Ontology:HP:0006571,MedGen:C4021591 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_number_of_intrahepatic_bile_ducts 13 low_record_burden_interpretation_limited low_record_burden_gene GUCY2C mondo_mondo_0013843_medgen_c4518781_omim_614665_orphanet_314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency MONDO:MONDO:0013843,MedGen:C4518781,OMIM:614665,Orphanet:314376 1 1 1.0000 condition_record_support_limited 20 0 1 Intestinal_obstruction_in_the_newborn_due_to_guanylate_cyclase_2C_deficiency 13 low_record_burden_interpretation_limited low_record_burden_gene GUCY2C human_phenotype_ontology_hp_0002247_mondo_mondo_0009126_medgen_c0266174_omim_223400_orphanet_1203 Duodenal atresia Human_Phenotype_Ontology:HP:0002247,MONDO:MONDO:0009126,MedGen:C0266174,OMIM:223400,Orphanet:1203 1 1 1.0000 condition_record_support_limited 20 0 1 Duodenal_atresia 13 low_record_burden_interpretation_limited low_record_burden_gene GUCY2C human_phenotype_ontology_hp_0001746_medgen_c5779621 Asplenia Human_Phenotype_Ontology:HP:0001746,MedGen:C5779621 1 1 1.0000 condition_record_support_limited 20 0 1 Asplenia 13 low_record_burden_interpretation_limited low_record_burden_gene GUCY2C human_phenotype_ontology_hp_0012440_medgen_c4021086 Abnormal biliary tract morphology Human_Phenotype_Ontology:HP:0012440,MedGen:C4021086 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_biliary_tract_morphology 13 low_record_burden_interpretation_limited low_record_burden_gene GUCY1A1 medgen_c1838021 Myocardial infarction, susceptibility to, 1 MedGen:C1838021 1 1 1.0000 condition_record_support_limited 20 0 0 Myocardial_infarction,_susceptibility_to,_1 14 low_record_burden_interpretation_limited low_record_burden_gene GUCA1B human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 1 low_record_burden_interpretation_limited low_record_burden_gene GUCA1B human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy 1 low_record_burden_interpretation_limited low_record_burden_gene GUCA1B mondo_mondo_0011193_medgen_c1865869_omim_602093_orphanet_1872 Cone dystrophy 3 MONDO:MONDO:0011193,MedGen:C1865869,OMIM:602093,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone_dystrophy_3 1 low_record_burden_interpretation_limited low_record_burden_gene GUCA1A human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCA1A human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 1.0000 condition_record_support_limited 20 0 1 Macular_dystrophy 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GUCA1A mondo_mondo_0957048_medgen_c5681367_orphanet_519302 Isolated macular dystrophy MONDO:MONDO:0957048,MedGen:C5681367,Orphanet:519302 1 1 1.0000 condition_record_support_limited 20 0 1 Isolated_macular_dystrophy 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GTPBP3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GTPBP2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene GTF3C3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene GTF3C3 mondo_mondo_0012864_medgen_c2676739_omim_612313_orphanet_251019 Chromosome 2q32-q33 deletion syndrome MONDO:MONDO:0012864,MedGen:C2676739,OMIM:612313,Orphanet:251019 1 1 1.0000 condition_record_support_limited 20 0 1 Chromosome_2q32-q33_deletion_syndrome 10 low_record_burden_interpretation_limited low_record_burden_gene GTF3C1 human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Esophageal atresia/tracheoesophageal fistula Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 1.0000 condition_record_support_limited 20 0 0 Esophageal_atresia/tracheoesophageal_fistula 2 low_record_burden_interpretation_limited low_record_burden_gene GTF3C1 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 2 low_record_burden_interpretation_limited low_record_burden_gene GTF2IRD1 mondo_mondo_0957430_medgen_c0036346_orphanet_641496 Childhood-onset schizophrenia MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 1.0000 condition_record_support_limited 20 0 0 Childhood-onset_schizophrenia 1 low_record_burden_interpretation_limited low_record_burden_gene GSTZ1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene GSTZ1 gstz1_related_disorder GSTZ1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GSTZ1-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene GSTT2B mondo_mondo_0024555_medgen_c5779875_omim_604004_orphanet_2478 Megalencephalic leukoencephalopathy with subcortical cysts 1 MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004,Orphanet:2478 1 1 1.0000 condition_record_support_limited 20 0 0 Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1 1 low_record_burden_interpretation_limited low_record_burden_gene GSTP1 mondo_mondo_0012660_medgen_c1969649_omim_611381 Kala-azar susceptibility 2 MONDO:MONDO:0012660,MedGen:C1969649,OMIM:611381 1 1 1.0000 condition_record_support_limited 20 0 0 Kala-azar_susceptibility_2 1 low_record_burden_interpretation_limited low_record_burden_gene GSS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GSS gss_related_disorder GSS-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 GSS-related_disorder 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GSR condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene GSPT2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 1 low_record_burden_interpretation_limited low_record_burden_gene GSPT2 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 1 low_record_burden_interpretation_limited low_record_burden_gene GSPT2 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 1 low_record_burden_interpretation_limited low_record_burden_gene GSN mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 6 low_record_burden_interpretation_limited low_record_burden_gene GSK3B human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 3 low_record_burden_interpretation_limited low_record_burden_gene GSDME medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 7 low_record_burden_interpretation_limited low_record_burden_gene GSDME monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 7 low_record_burden_interpretation_limited low_record_burden_gene GRXCR2 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 0 Hearing_loss,_autosomal_recessive 7 low_record_burden_interpretation_limited low_record_burden_gene GRXCR1 monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 17 low_record_burden_interpretation_limited low_record_burden_gene GRXCR1 medgen_c0011053 Deafness MedGen:C0011053 1 1 1.0000 condition_record_support_limited 20 0 1 Deafness 17 low_record_burden_interpretation_limited low_record_burden_gene GRN mondo_mondo_0019806_medgen_c0282513_orphanet_95432 Primary progressive aphasia MONDO:MONDO:0019806,MedGen:C0282513,Orphanet:95432 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_progressive_aphasia 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRN human_phenotype_ontology_hp_0001300_mondo_mondo_0021095_medgen_c0242422 Parkinsonian disorder Human_Phenotype_Ontology:HP:0001300,MONDO:MONDO:0021095,MedGen:C0242422 1 1 1.0000 condition_record_support_limited 20 0 0 Parkinsonian_disorder 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRN human_phenotype_ontology_hp_0002128_human_phenotype_ontology_hp_0002129_human_phenotype_ontology_hp_0002302_human_phenotype_ontology_hp_0002337_human_phenotype_ontology_hp_0002441_human_phenotype_ontology_hp_0006972_human_phenotype_ontology_hp_0006998_human_phenotype_ontology_hp_0007211_human_phenotype_ontology_hp_0100543_medgen_c0338656 Cognitive impairment Human_Phenotype_Ontology:HP:0002128,Human_Phenotype_Ontology:HP:0002129,Human_Phenotype_Ontology:HP:0002302,Human_Phenotype_Ontology:HP:0002337,Human_Phenotype_Ontology:HP:0002441,Human_Phenotype_Ontology:HP:0006972,Human_Phenotype_Ontology:HP:0006998,Human_Phenotype_Ontology:HP:0007211,Human_Phenotype_Ontology:HP:0100543,MedGen:C0338656 1 1 1.0000 condition_record_support_limited 20 0 1 Cognitive_impairment 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRN mondo_mondo_0012790_medgen_c2677565_omim_612069_orphanet_275872_orphanet_803 Amyotrophic lateral sclerosis type 10 MONDO:MONDO:0012790,MedGen:C2677565,OMIM:612069,Orphanet:275872,Orphanet:803 1 1 1.0000 condition_record_support_limited 20 0 1 Amyotrophic_lateral_sclerosis_type_10 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRN human_phenotype_ontology_hp_0002511_human_phenotype_ontology_hp_0006878_human_phenotype_ontology_hp_0007213_mondo_mondo_0004975_mesh_d000544_medgen_c0002395_orphanet_1020 Alzheimer disease Human_Phenotype_Ontology:HP:0002511,Human_Phenotype_Ontology:HP:0006878,Human_Phenotype_Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020 1 1 1.0000 condition_record_support_limited 20 0 1 Alzheimer_disease 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRM7 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 10 low_record_burden_interpretation_limited low_record_burden_gene GRM7 human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Hypoplasia of the corpus callosum Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplasia_of_the_corpus_callosum 10 low_record_burden_interpretation_limited low_record_burden_gene GRM7 human_phenotype_ontology_hp_0011189_medgen_c4023485 Bilateral multifocal epileptiform discharges Human_Phenotype_Ontology:HP:0011189,MedGen:C4023485 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_multifocal_epileptiform_discharges 10 low_record_burden_interpretation_limited low_record_burden_gene GRM6 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 1 Leber_congenital_amaurosis 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRM6 mondo_mondo_0013183_medgen_c2750747_omim_613216_orphanet_215 Congenital stationary night blindness 1C MONDO:MONDO:0013183,MedGen:C2750747,OMIM:613216,Orphanet:215 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_stationary_night_blindness_1C 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRM1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 14 low_record_burden_interpretation_limited low_record_burden_gene GRM1 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebellar_ataxia 14 low_record_burden_interpretation_limited low_record_burden_gene GRK1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 21 compact_adjacent_exon_block_opportunity local_compact_architecture GRK1 human_phenotype_ontology_hp_0007642_human_phenotype_ontology_hp_0007684_human_phenotype_ontology_hp_0007861_human_phenotype_ontology_hp_0007953_mondo_mondo_0016293_medgen_c0339535_omim_ps310500_orphanet_215 Congenital stationary night blindness Human_Phenotype_Ontology:HP:0007642,Human_Phenotype_Ontology:HP:0007684,Human_Phenotype_Ontology:HP:0007861,Human_Phenotype_Ontology:HP:0007953,MONDO:MONDO:0016293,MedGen:C0339535,OMIM:PS310500,Orphanet:215 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_stationary_night_blindness 21 compact_adjacent_exon_block_opportunity local_compact_architecture GRIP1 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B human_phenotype_ontology_hp_0002360_medgen_c0037317 Sleep disturbance Human_Phenotype_Ontology:HP:0002360,MedGen:C0037317 1 1 1.0000 condition_record_support_limited 20 0 1 Sleep_disturbance 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 1.0000 condition_record_support_limited 20 0 1 Scoliosis 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Motor delay Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 1.0000 condition_record_support_limited 20 0 1 Motor_delay 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B human_phenotype_ontology_hp_0006010_human_phenotype_ontology_hp_0100807_medgen_c1858091 Long fingers Human_Phenotype_Ontology:HP:0006010,Human_Phenotype_Ontology:HP:0100807,MedGen:C1858091 1 1 1.0000 condition_record_support_limited 20 0 1 Long_fingers 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B human_phenotype_ontology_hp_0001378_human_phenotype_ontology_hp_0001382_human_phenotype_ontology_hp_0005034_medgen_c1844820 Joint hypermobility Human_Phenotype_Ontology:HP:0001378,Human_Phenotype_Ontology:HP:0001382,Human_Phenotype_Ontology:HP:0005034,MedGen:C1844820 1 1 1.0000 condition_record_support_limited 20 0 1 Joint_hypermobility 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B human_phenotype_ontology_hp_0001511_human_phenotype_ontology_hp_0001515_human_phenotype_ontology_hp_0008862_human_phenotype_ontology_hp_0008892_human_phenotype_ontology_hp_0008931_mondo_mondo_0005030_medgen_c0015934 Fetal growth restriction Human_Phenotype_Ontology:HP:0001511,Human_Phenotype_Ontology:HP:0001515,Human_Phenotype_Ontology:HP:0008862,Human_Phenotype_Ontology:HP:0008892,Human_Phenotype_Ontology:HP:0008931,MONDO:MONDO:0005030,MedGen:C0015934 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_growth_restriction 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B human_phenotype_ontology_hp_0002355_human_phenotype_ontology_hp_0007101_human_phenotype_ontology_hp_0009030_medgen_c0311394 Difficulty walking Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394 1 1 1.0000 condition_record_support_limited 20 0 1 Difficulty_walking 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B medgen_c0424605 Developmental delay MedGen:C0424605 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_delay 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 1.0000 condition_record_support_limited 20 0 1 Craniosynostosis_syndrome 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B mondo_mondo_0015802_medgen_c5680502_orphanet_178469 Autosomal dominant non-syndromic intellectual disability MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_non-syndromic_intellectual_disability 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B human_phenotype_ontology_hp_0000729_medgen_c0856975 Autistic behavior Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 1.0000 condition_record_support_limited 20 0 1 Autistic_behavior 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B human_phenotype_ontology_hp_0000483_mondo_mondo_0011284_medgen_c0004106_omim_603047 Astigmatism Human_Phenotype_Ontology:HP:0000483,MONDO:MONDO:0011284,MedGen:C0004106,OMIM:603047 1 1 1.0000 condition_record_support_limited 20 0 1 Astigmatism 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Absent speech Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 1.0000 condition_record_support_limited 20 0 1 Absent_speech 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2B human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 273 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2A mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 291 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2A human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 291 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2A grin2a_related_disorders GRIN2A-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 GRIN2A-related_disorders 291 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2A mondo_mondo_1060139_medgen_cn379781 GRIN2A-related complex neurodevelopmental disorder MONDO:MONDO:1060139,MedGen:CN379781 1 1 1.0000 condition_record_support_limited 20 0 1 GRIN2A-related_complex_neurodevelopmental_disorder 291 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2A mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy 291 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2A mondo_mondo_0017325_medgen_c4749281_orphanet_289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation MONDO:MONDO:0017325,MedGen:C4749281,Orphanet:289266 1 1 1.0000 condition_record_support_limited 20 0 1 Early-onset_epileptic_encephalopathy_and_intellectual_disability_due_to_GRIN2A_mutation 291 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2A dystonia_intellectual_disability_and_language_impairment Dystonia, intellectual disability and language impairment . 1 1 1.0000 condition_record_support_limited 20 0 0 Dystonia,_intellectual_disability_and_language_impairment 291 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2A mondo_mondo_0014213_medgen_c3809686_omim_615502_orphanet_363611 CTCF-related neurodevelopmental disorder MONDO:MONDO:0014213,MedGen:C3809686,OMIM:615502,Orphanet:363611 1 1 1.0000 condition_record_support_limited 20 0 0 CTCF-related_neurodevelopmental_disorder 291 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN2A human_phenotype_ontology_hp_0002060_medgen_c4021762 Abnormal cerebral morphology Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cerebral_morphology 291 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN1 mondo_mondo_0007295_medgen_c0376532_orphanet_1945 Self-limited epilepsy with centrotemporal spikes MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 1 1 1.0000 condition_record_support_limited 20 0 0 Self-limited_epilepsy_with_centrotemporal_spikes 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN1 neurodevelopmental_disorder_with_hyperkinetic_movements_with_or_without_seizures_autosomal_recessive NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITH OR WITHOUT SEIZURES, AUTOSOMAL RECESSIVE . 1 1 1.0000 condition_record_support_limited 20 0 1 NEURODEVELOPMENTAL_DISORDER_WITH_HYPERKINETIC_MOVEMENTS_WITH_OR_WITHOUT_SEIZURES,_AUTOSOMAL_RECESSIVE 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN1 neurodevelopmental_disorder_with_hyperkinetic_movements_and_with_or_without_seizures_autosomal_dominant NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND WITH OR WITHOUT SEIZURES, AUTOSOMAL DOMINANT . 1 1 1.0000 condition_record_support_limited 20 0 1 NEURODEVELOPMENTAL_DISORDER_WITH_HYPERKINETIC_MOVEMENTS_AND_WITH_OR_WITHOUT_SEIZURES,_AUTOSOMAL_DOMINANT 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIN1 mondo_mondo_0010632_medgen_c3463992_omim_308350 Developmental and epileptic encephalopathy, 1 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_1 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIK2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 13 low_record_burden_interpretation_limited low_record_burden_gene GRIK2 human_phenotype_ontology_hp_0012736_medgen_c3553450 Profound global developmental delay Human_Phenotype_Ontology:HP:0012736,MedGen:C3553450 1 1 1.0000 condition_record_support_limited 20 0 1 Profound_global_developmental_delay 13 low_record_burden_interpretation_limited low_record_burden_gene GRIK2 mondo_mondo_0012614_medgen_c1970198_omim_611092_orphanet_88616 Intellectual disability, autosomal recessive 6 MONDO:MONDO:0012614,MedGen:C1970198,OMIM:611092,Orphanet:88616 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_autosomal_recessive_6 13 low_record_burden_interpretation_limited low_record_burden_gene GRIK2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 13 low_record_burden_interpretation_limited low_record_burden_gene GRIK2 human_phenotype_ontology_hp_0002066_human_phenotype_ontology_hp_0002379_medgen_c0751837 Gait ataxia Human_Phenotype_Ontology:HP:0002066,Human_Phenotype_Ontology:HP:0002379,MedGen:C0751837 1 1 1.0000 condition_record_support_limited 20 0 1 Gait_ataxia 13 low_record_burden_interpretation_limited low_record_burden_gene GRIK2 grik2_related_neurodevelopmental_disorder GRIK2-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GRIK2-related_neurodevelopmental_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene GRIK2 grik2_related_disorder GRIK2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 GRIK2-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene GRIK2 human_phenotype_ontology_hp_0000595_human_phenotype_ontology_hp_0100704_medgen_c4048268_orphanet_447788 Cerebral visual impairment Human_Phenotype_Ontology:HP:0000595,Human_Phenotype_Ontology:HP:0100704,MedGen:C4048268,Orphanet:447788 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_visual_impairment 13 low_record_burden_interpretation_limited low_record_burden_gene GRIK2 human_phenotype_ontology_hp_0000729_medgen_c0856975 Autistic behavior Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 1.0000 condition_record_support_limited 20 0 0 Autistic_behavior 13 low_record_burden_interpretation_limited low_record_burden_gene GRIK2 human_phenotype_ontology_hp_0002500_human_phenotype_ontology_hp_0200100_medgen_c0948163 Abnormal cerebral white matter morphology Human_Phenotype_Ontology:HP:0002500,Human_Phenotype_Ontology:HP:0200100,MedGen:C0948163 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cerebral_white_matter_morphology 13 low_record_burden_interpretation_limited low_record_burden_gene GRID1 grid1_associated_neurodevelopmental_disorder GRID1-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 GRID1-associated_neurodevelopmental_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene GRIA4 human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 1.0000 condition_record_support_limited 20 0 0 Obesity 11 low_record_burden_interpretation_limited low_record_burden_gene GRIA4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene GRIA3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIA3 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIA3 gria3_related_complex_neurodevelopmental_disorder GRIA3-related complex neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 GRIA3-related_complex_neurodevelopmental_disorder 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIA3 mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIA2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIA2 gria2_related_disorder GRIA2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 GRIA2-related_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRIA1 mondo_mondo_0000509_medgen_cn280315 Non-syndromic intellectual disability MONDO:MONDO:0000509,MedGen:CN280315 1 1 1.0000 condition_record_support_limited 20 0 1 Non-syndromic_intellectual_disability 8 low_record_burden_interpretation_limited low_record_burden_gene GRIA1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 8 low_record_burden_interpretation_limited low_record_burden_gene GRIA1 gria1_related_disorder GRIA1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 GRIA1-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene GRIA1 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene GRHPR mondo_mondo_0014744_medgen_c5569084_omim_616719_orphanet_466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:MONDO:0014744,MedGen:C5569084,OMIM:616719,Orphanet:466794 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_infantile_liver_failure-cerebellar_ataxia-peripheral_sensory_motor_neuropathy_syndrome 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GRHL3 grhl3_related_disorder GRHL3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 GRHL3-related_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GREM2 mondo_mondo_0014999_medgen_c4310638_omim_617275 Tooth agenesis, selective, 9 MONDO:MONDO:0014999,MedGen:C4310638,OMIM:617275 1 1 1.0000 condition_record_support_limited 20 0 0 Tooth_agenesis,_selective,_9 1 low_record_burden_interpretation_limited low_record_burden_gene GREB1L human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 86 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture GREB1L renal_agenesis_and_hypodysplasia Renal agenesis and hypodysplasia . 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_agenesis_and_hypodysplasia 86 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture GREB1L human_phenotype_ontology_hp_0012715_medgen_c4022756 Profound hearing impairment Human_Phenotype_Ontology:HP:0012715,MedGen:C4022756 1 1 1.0000 condition_record_support_limited 20 0 1 Profound_hearing_impairment 86 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture GREB1L mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_anomaly_of_kidney_and_urinary_tract 86 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture GRAP mondo_mondo_0032761_medgen_c5193107_omim_618456 Hearing loss, autosomal recessive 114 MONDO:MONDO:0032761,MedGen:C5193107,OMIM:618456 1 1 1.0000 condition_record_support_limited 20 0 0 Hearing_loss,_autosomal_recessive_114 1 low_record_burden_interpretation_limited low_record_burden_gene GRAMD1B human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene GPX4 gpx4_related_disorder GPX4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GPX4-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene GPT2 medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_intellectual_disability 18 low_record_burden_interpretation_limited low_record_burden_gene GPSM2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPSM2 medgen_c0011053 Deafness MedGen:C0011053 1 1 1.0000 condition_record_support_limited 20 0 1 Deafness 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPSM2 mondo_mondo_0012933_medgen_c2675520_omim_612555_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 2 MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 1 Breast-ovarian_cancer,_familial,_susceptibility_to,_2 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPR88 mondo_mondo_0014839_medgen_c4310787_omim_616939 Chorea, childhood-onset, with psychomotor retardation MONDO:MONDO:0014839,MedGen:C4310787,OMIM:616939 1 1 1.0000 condition_record_support_limited 20 0 0 Chorea,_childhood-onset,_with_psychomotor_retardation 1 low_record_burden_interpretation_limited low_record_burden_gene GPR19 mondo_mondo_0012552_medgen_c1970712_omim_610755_orphanet_276152 Multiple endocrine neoplasia type 4 MONDO:MONDO:0012552,MedGen:C1970712,OMIM:610755,Orphanet:276152 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_endocrine_neoplasia_type_4 1 low_record_burden_interpretation_limited low_record_burden_gene GPR179 gpr179_related_disorder GPR179-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GPR179-related_disorder 45 compact_adjacent_exon_block_opportunity local_compact_architecture GPR179 mondo_mondo_0009758_medgen_c1850362_omim_257270_orphanet_215 Congenital stationary night blindness 1B MONDO:MONDO:0009758,MedGen:C1850362,OMIM:257270,Orphanet:215 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_stationary_night_blindness_1B 45 compact_adjacent_exon_block_opportunity local_compact_architecture GPR153 mondo_mondo_0957430_medgen_c0036346_orphanet_641496 Childhood-onset schizophrenia MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 1.0000 condition_record_support_limited 20 0 0 Childhood-onset_schizophrenia 1 low_record_burden_interpretation_limited low_record_burden_gene GPR143 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 112 compact_adjacent_exon_block_opportunity local_compact_architecture GPR143 human_phenotype_ontology_hp_0000817_medgen_c1445953 Reduced eye contact Human_Phenotype_Ontology:HP:0000817,MedGen:C1445953 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_eye_contact 112 compact_adjacent_exon_block_opportunity local_compact_architecture GPR143 human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 1.0000 condition_record_support_limited 20 0 1 Nystagmus 112 compact_adjacent_exon_block_opportunity local_compact_architecture GPR143 albinism_or_congenital_nystagmus Albinism or congenital nystagmus . 1 1 1.0000 condition_record_support_limited 20 0 0 Albinism_or_congenital_nystagmus 112 compact_adjacent_exon_block_opportunity local_compact_architecture GPR101 mondo_mondo_0010492_medgen_c4012409_omim_300943_orphanet_963 Pituitary adenoma, growth hormone-secreting, 2 MONDO:MONDO:0010492,MedGen:C4012409,OMIM:300943,Orphanet:963 1 1 1.0000 condition_record_support_limited 20 0 0 Pituitary_adenoma,_growth_hormone-secreting,_2 1 low_record_burden_interpretation_limited low_record_burden_gene GPN2 mondo_mondo_0009300_medgen_c4551721_omim_233400_orphanet_2855_orphanet_642945 Perrault syndrome 1 MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400,Orphanet:2855,Orphanet:642945 1 1 1.0000 condition_record_support_limited 20 0 0 Perrault_syndrome_1 1 low_record_burden_interpretation_limited low_record_burden_gene GPIHBP1 mondo_mondo_0009387_medgen_c0023817_omim_238600_orphanet_309015_orphanet_444490 Hyperlipoproteinemia, type I MONDO:MONDO:0009387,MedGen:C0023817,OMIM:238600,Orphanet:309015,Orphanet:444490 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperlipoproteinemia,_type_I 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPIHBP1 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPI mondo_mondo_0019350_medgen_c0037889_orphanet_822 Hereditary spherocytosis MONDO:MONDO:0019350,MedGen:C0037889,Orphanet:822 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_spherocytosis 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPI gpi_related_disorder GPI-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 GPI-related_disorder 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPHN mondo_mondo_0019353_medgen_c0271093_orphanet_827 Stargardt disease MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827 1 1 1.0000 condition_record_support_limited 20 0 0 Stargardt_disease 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPHN human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPHN human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPHN human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_palsy 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPHN human_phenotype_ontology_hp_0100702_mondo_mondo_0008813_medgen_c0078981_orphanet_2356 Arachnoid cyst Human_Phenotype_Ontology:HP:0100702,MONDO:MONDO:0008813,MedGen:C0078981,Orphanet:2356 1 1 1.0000 condition_record_support_limited 20 0 1 Arachnoid_cyst 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPHN human_phenotype_ontology_hp_0000739_mondo_mondo_0011918_medgen_c0003467_omim_607834 Anxiety Human_Phenotype_Ontology:HP:0000739,MONDO:MONDO:0011918,MedGen:C0003467,OMIM:607834 1 1 1.0000 condition_record_support_limited 20 0 1 Anxiety 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPHN human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GPD2 human_phenotype_ontology_hp_0005965_human_phenotype_ontology_hp_0005978_human_phenotype_ontology_hp_0100652_mondo_mondo_0005148_mesh_d003924_medgen_c0011860_omim_125853 Type 2 diabetes mellitus Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853 1 1 1.0000 condition_record_support_limited 20 0 0 Type_2_diabetes_mellitus 1 low_record_burden_interpretation_limited low_record_burden_gene GPC4 gpc4_related_disorder GPC4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 GPC4-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene GPC4 human_phenotype_ontology_hp_0006402_medgen_c1840307 Distal shortening of limbs Human_Phenotype_Ontology:HP:0006402,MedGen:C1840307 1 1 1.0000 condition_record_support_limited 20 0 0 Distal_shortening_of_limbs 16 low_record_burden_interpretation_limited low_record_burden_gene GPC4 human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 1.0000 condition_record_support_limited 20 0 0 Craniosynostosis_syndrome 16 low_record_burden_interpretation_limited low_record_burden_gene GPAA1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP9 human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombocytopenia 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP9 gp9_related_disorder GP9-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GP9-related_disorder 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP1BB mild_macrothrombocytopenia Mild macrothrombocytopenia . 1 1 1.0000 condition_record_support_limited 20 0 1 Mild_macrothrombocytopenia 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP1BB human_phenotype_ontology_hp_0011877_medgen_c1096367 Increased mean platelet volume Human_Phenotype_Ontology:HP:0011877,MedGen:C1096367 1 1 1.0000 condition_record_support_limited 20 0 1 Increased_mean_platelet_volume 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP1BB gp1bb_related_disorder GP1BB-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GP1BB-related_disorder 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP1BB mondo_mondo_0015372_medgen_c4304021_orphanet_140957 Autosomal dominant macrothrombocytopenia MONDO:MONDO:0015372,MedGen:C4304021,Orphanet:140957 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_macrothrombocytopenia 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GP1BA human_phenotype_ontology_hp_0011871_medgen_c4023154 Impaired ristocetin-induced platelet aggregation Human_Phenotype_Ontology:HP:0011871,MedGen:C4023154 1 1 1.0000 condition_record_support_limited 20 0 1 Impaired_ristocetin-induced_platelet_aggregation 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GOT1 medgen_c3280741_omim_614419 ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 MedGen:C3280741,OMIM:614419 1 1 1.0000 condition_record_support_limited 20 0 0 ASPARTATE_AMINOTRANSFERASE,_SERUM_LEVEL_OF,_QUANTITATIVE_TRAIT_LOCUS_1 1 low_record_burden_interpretation_limited low_record_burden_gene GOSR2 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GORAB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 49 compact_adjacent_exon_block_opportunity local_compact_architecture GORAB gorab_related_disorder GORAB-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GORAB-related_disorder 49 compact_adjacent_exon_block_opportunity local_compact_architecture GON7 mondo_mondo_0009627_medgen_c0795949_omim_ps251300_orphanet_2065 Galloway-Mowat syndrome MONDO:MONDO:0009627,MedGen:C0795949,OMIM:PS251300,Orphanet:2065 1 1 1.0000 condition_record_support_limited 20 0 1 Galloway-Mowat_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene GOLGA2 mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 Neuromuscular disease MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 1 1 1.0000 condition_record_support_limited 20 0 1 Neuromuscular_disease 10 low_record_burden_interpretation_limited low_record_burden_gene GNS gns_related_disorder GNS-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 GNS-related_disorder 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNRHR isolated_gnrh_deficiency Isolated GnRH Deficiency . 1 1 1.0000 condition_record_support_limited 20 0 1 Isolated_GnRH_Deficiency 43 compact_adjacent_exon_block_opportunity local_compact_architecture GNRHR human_phenotype_ontology_hp_0000789_mondo_mondo_0005047_medgen_c0021359 Infertility disorder Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359 1 1 1.0000 condition_record_support_limited 20 0 1 Infertility_disorder 43 compact_adjacent_exon_block_opportunity local_compact_architecture GNRHR mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 43 compact_adjacent_exon_block_opportunity local_compact_architecture GNRHR human_phenotype_ontology_hp_0008213_medgen_c4552011_orphanet_181387 Gonadotropin deficiency Human_Phenotype_Ontology:HP:0008213,MedGen:C4552011,Orphanet:181387 1 1 1.0000 condition_record_support_limited 20 0 1 Gonadotropin_deficiency 43 compact_adjacent_exon_block_opportunity local_compact_architecture GNRHR human_phenotype_ontology_hp_0000823_human_phenotype_ontology_hp_0008859_human_phenotype_ontology_hp_0010466_human_phenotype_ontology_hp_0010467_medgen_c0034012 Delayed puberty Human_Phenotype_Ontology:HP:0000823,Human_Phenotype_Ontology:HP:0008859,Human_Phenotype_Ontology:HP:0010466,Human_Phenotype_Ontology:HP:0010467,MedGen:C0034012 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_puberty 43 compact_adjacent_exon_block_opportunity local_compact_architecture GNPTAB medgen_c2673375 Mucolipidosis III alpha/beta, atypical MedGen:C2673375 1 1 1.0000 condition_record_support_limited 20 0 1 Mucolipidosis_III_alpha/beta,_atypical 436 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNPTAB human_phenotype_ontology_hp_0003280_human_phenotype_ontology_hp_0005743_human_phenotype_ontology_hp_0006448_human_phenotype_ontology_hp_0010887_mondo_mondo_0007885_medgen_c1442965_omim_150600_orphanet_2380 Legg-Calve-Perthes disease Human_Phenotype_Ontology:HP:0003280,Human_Phenotype_Ontology:HP:0005743,Human_Phenotype_Ontology:HP:0006448,Human_Phenotype_Ontology:HP:0010887,MONDO:MONDO:0007885,MedGen:C1442965,OMIM:150600,Orphanet:2380 1 1 1.0000 condition_record_support_limited 20 0 1 Legg-Calve-Perthes_disease 436 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNPTAB human_phenotype_ontology_hp_0010891_mondo_mondo_0008410_medgen_c0036310_omim_181440_orphanet_3135 Juvenile osteochondrosis of spine Human_Phenotype_Ontology:HP:0010891,MONDO:MONDO:0008410,MedGen:C0036310,OMIM:181440,Orphanet:3135 1 1 1.0000 condition_record_support_limited 20 0 1 Juvenile_osteochondrosis_of_spine 436 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNPNAT1 mondo_mondo_0859203_medgen_c5562013_omim_619598 Rhizomelic dysplasia, Ain-Naz type MONDO:MONDO:0859203,MedGen:C5562013,OMIM:619598 1 1 1.0000 condition_record_support_limited 20 0 0 Rhizomelic_dysplasia,_Ain-Naz_type 1 low_record_burden_interpretation_limited low_record_burden_gene GNPAT gnpat_related_disorder GNPAT-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GNPAT-related_disorder 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNG3 human_phenotype_ontology_hp_0009314_medgen_c4024448 Symphalangism affecting the proximal phalanx of the 4th finger Human_Phenotype_Ontology:HP:0009314,MedGen:C4024448 1 1 1.0000 condition_record_support_limited 20 0 1 Symphalangism_affecting_the_proximal_phalanx_of_the_4th_finger 2 low_record_burden_interpretation_limited low_record_burden_gene GNG3 human_phenotype_ontology_hp_0002972_human_phenotype_ontology_hp_0005434_medgen_c1843386 Reduced delayed hypersensitivity Human_Phenotype_Ontology:HP:0002972,Human_Phenotype_Ontology:HP:0005434,MedGen:C1843386 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_delayed_hypersensitivity 2 low_record_burden_interpretation_limited low_record_burden_gene GNG3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 2 low_record_burden_interpretation_limited low_record_burden_gene GNG3 human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 1 1 1.0000 condition_record_support_limited 20 0 1 Breast_carcinoma 2 low_record_burden_interpretation_limited low_record_burden_gene GNE human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 1.0000 condition_record_support_limited 20 0 0 Thrombocytopenia 223 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNE mondo_mondo_0007827_medgen_c0238190_omim_147421_orphanet_611 Inclusion body myositis MONDO:MONDO:0007827,MedGen:C0238190,OMIM:147421,Orphanet:611 1 1 1.0000 condition_record_support_limited 20 0 1 Inclusion_body_myositis 223 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNE mondo_mondo_0018630_medgen_c1333990_omim_ps120435_orphanet_443909 Hereditary nonpolyposis colon cancer MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:443909 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_nonpolyposis_colon_cancer 223 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB5 lodder_merla_syndrome_type_2_with_developmental_delay_and_cardiac_arrhythmia LODDER-MERLA SYNDROME, TYPE 2, WITH DEVELOPMENTAL DELAY AND CARDIAC ARRHYTHMIA . 1 1 1.0000 condition_record_support_limited 20 0 1 LODDER-MERLA_SYNDROME,_TYPE_2,_WITH_DEVELOPMENTAL_DELAY_AND_CARDIAC_ARRHYTHMIA 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB5 gnb5_reled_disorder GNB5-reled disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GNB5-reled_disorder 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB5 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB5 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 0 Cardiovascular_phenotype 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB5 human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Attention deficit hyperactivity disorder Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 1.0000 condition_record_support_limited 20 0 1 Attention_deficit_hyperactivity_disorder 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB5 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene GNB2 mondo_mondo_0859173_medgen_c5561949_omim_619464 Sick sinus syndrome 4 MONDO:MONDO:0859173,MedGen:C5561949,OMIM:619464 1 1 1.0000 condition_record_support_limited 20 0 0 Sick_sinus_syndrome_4 12 low_record_burden_interpretation_limited low_record_burden_gene GNB2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 12 low_record_burden_interpretation_limited low_record_burden_gene GNB2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 12 low_record_burden_interpretation_limited low_record_burden_gene GNB2 gnb2_related_disorder GNB2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GNB2-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene GNB1 human_phenotype_ontology_hp_0200049_medgen_c4021898 Upper limb hypertonia Human_Phenotype_Ontology:HP:0200049,MedGen:C4021898 1 1 1.0000 condition_record_support_limited 20 0 1 Upper_limb_hypertonia 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 mondo_mondo_0018881_mesh_d009190_medgen_c3463824_omim_614286_orphanet_52688 Myelodysplastic syndrome MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688 1 1 1.0000 condition_record_support_limited 20 0 1 Myelodysplastic_syndrome 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 leukemia_chronic_lymphocytic_somatic LEUKEMIA, CHRONIC LYMPHOCYTIC, SOMATIC . 1 1 1.0000 condition_record_support_limited 20 0 1 LEUKEMIA,_CHRONIC_LYMPHOCYTIC,_SOMATIC 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0009062_medgen_c3806604 Infantile axial hypotonia Human_Phenotype_Ontology:HP:0009062,MedGen:C3806604 1 1 1.0000 condition_record_support_limited 20 0 1 Infantile_axial_hypotonia 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0000821_human_phenotype_ontology_hp_0003222_human_phenotype_ontology_hp_0008203_mondo_mondo_0005420_medgen_c0020676 Hypothyroidism Human_Phenotype_Ontology:HP:0000821,Human_Phenotype_Ontology:HP:0003222,Human_Phenotype_Ontology:HP:0008203,MONDO:MONDO:0005420,MedGen:C0020676 1 1 1.0000 condition_record_support_limited 20 0 1 Hypothyroidism 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 gnb1_related_disorder GNB1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GNB1-related_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Cleft palate Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 1.0000 condition_record_support_limited 20 0 1 Cleft_palate 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_palsy 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 mondo_mondo_0015802_medgen_c5680502_orphanet_178469 Autosomal dominant non-syndromic intellectual disability MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_non-syndromic_intellectual_disability 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNB1 human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Atypical behavior Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 1 1 1.0000 condition_record_support_limited 20 0 1 Atypical_behavior 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAT2 mondo_mondo_0000455_medgen_c0730290_orphanet_1871 Cone dystrophy MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 1.0000 condition_record_support_limited 20 0 1 Cone_dystrophy 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAT2 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_eye 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS-AS1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene GNAS-AS1 mondo_mondo_0012912_medgen_c0033835_omim_612463_orphanet_79445 Pseudopseudohypoparathyroidism MONDO:MONDO:0012912,MedGen:C0033835,OMIM:612463,Orphanet:79445 1 1 1.0000 condition_record_support_limited 20 0 0 Pseudopseudohypoparathyroidism 4 low_record_burden_interpretation_limited low_record_burden_gene GNAS-AS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 4 low_record_burden_interpretation_limited low_record_burden_gene GNAS-AS1 medgen_c4013980 Early onset severe obesity MedGen:C4013980 1 1 1.0000 condition_record_support_limited 20 0 0 Early_onset_severe_obesity 4 low_record_burden_interpretation_limited low_record_burden_gene GNAS human_phenotype_ontology_hp_0001281_medgen_c0039621 Tetany Human_Phenotype_Ontology:HP:0001281,MedGen:C0039621 1 1 1.0000 condition_record_support_limited 20 0 1 Tetany 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS human_phenotype_ontology_hp_0001482_human_phenotype_ontology_hp_0005903_medgen_c0151811 Subcutaneous nodule Human_Phenotype_Ontology:HP:0001482,Human_Phenotype_Ontology:HP:0005903,MedGen:C0151811 1 1 1.0000 condition_record_support_limited 20 0 1 Subcutaneous_nodule 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Skeletal dysplasia Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 1 1 1.0000 condition_record_support_limited 20 0 0 Skeletal_dysplasia 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS human_phenotype_ontology_hp_0000304_human_phenotype_ontology_hp_0000311_human_phenotype_ontology_hp_0004653_medgen_c0239479 Round face Human_Phenotype_Ontology:HP:0000304,Human_Phenotype_Ontology:HP:0000311,Human_Phenotype_Ontology:HP:0004653,MedGen:C0239479 1 1 1.0000 condition_record_support_limited 20 0 1 Round_face 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS medgen_c4016140 PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS MedGen:C4016140 1 1 1.0000 condition_record_support_limited 20 0 0 PSEUDOHYPOPARATHYROIDISM,_TYPE_IA,_WITH_TESTOTOXICOSIS 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS php_type_1a_pphp PHP Type 1a / PPHP . 1 1 1.0000 condition_record_support_limited 20 0 0 PHP_Type_1a_/_PPHP 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 1.0000 condition_record_support_limited 20 0 1 Obesity 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS human_phenotype_ontology_hp_0002901_medgen_c0020598 Hypocalcemia Human_Phenotype_Ontology:HP:0002901,MedGen:C0020598 1 1 1.0000 condition_record_support_limited 20 0 1 Hypocalcemia 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS mondo_mondo_0008438_medgen_c1866855_omim_182601_orphanet_100985 Hereditary spastic paraplegia 4 MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601,Orphanet:100985 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia_4 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS gnas_associated_disease GNAS-associated disease . 1 1 1.0000 condition_record_support_limited 20 0 1 GNAS-associated_disease 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS medgen_c4013980 Early onset severe obesity MedGen:C4013980 1 1 1.0000 condition_record_support_limited 20 0 0 Early_onset_severe_obesity 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS human_phenotype_ontology_hp_0002128_human_phenotype_ontology_hp_0002129_human_phenotype_ontology_hp_0002302_human_phenotype_ontology_hp_0002337_human_phenotype_ontology_hp_0002441_human_phenotype_ontology_hp_0006972_human_phenotype_ontology_hp_0006998_human_phenotype_ontology_hp_0007211_human_phenotype_ontology_hp_0100543_medgen_c0338656 Cognitive impairment Human_Phenotype_Ontology:HP:0002128,Human_Phenotype_Ontology:HP:0002129,Human_Phenotype_Ontology:HP:0002302,Human_Phenotype_Ontology:HP:0002337,Human_Phenotype_Ontology:HP:0002441,Human_Phenotype_Ontology:HP:0006972,Human_Phenotype_Ontology:HP:0006998,Human_Phenotype_Ontology:HP:0007211,Human_Phenotype_Ontology:HP:0100543,MedGen:C0338656 1 1 1.0000 condition_record_support_limited 20 0 1 Cognitive_impairment 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAS human_phenotype_ontology_hp_0001156_human_phenotype_ontology_hp_0001189_human_phenotype_ontology_hp_0001201_human_phenotype_ontology_hp_0005630_human_phenotype_ontology_hp_0005657_human_phenotype_ontology_hp_0005727_human_phenotype_ontology_hp_0006017_human_phenotype_ontology_hp_0006128_human_phenotype_ontology_hp_0100667_mondo_mondo_0021004_medgen_c0221357 Brachydactyly Human_Phenotype_Ontology:HP:0001156,Human_Phenotype_Ontology:HP:0001189,Human_Phenotype_Ontology:HP:0001201,Human_Phenotype_Ontology:HP:0005630,Human_Phenotype_Ontology:HP:0005657,Human_Phenotype_Ontology:HP:0005727,Human_Phenotype_Ontology:HP:0006017,Human_Phenotype_Ontology:HP:0006128,Human_Phenotype_Ontology:HP:0100667,MONDO:MONDO:0021004,MedGen:C0221357 1 1 1.0000 condition_record_support_limited 20 0 1 Brachydactyly 235 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAQ human_phenotype_ontology_hp_0002861_human_phenotype_ontology_hp_0002887_human_phenotype_ontology_hp_0006777_human_phenotype_ontology_hp_0007474_mondo_mondo_0005105_mesh_d008545_medgen_c0025202 Melanoma Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202 1 1 1.0000 condition_record_support_limited 20 0 1 Melanoma 8 low_record_burden_interpretation_limited low_record_burden_gene GNAQ human_phenotype_ontology_hp_0007461_medgen_c1384590 Hemangiomatosis Human_Phenotype_Ontology:HP:0007461,MedGen:C1384590 1 1 1.0000 condition_record_support_limited 20 0 1 Hemangiomatosis 8 low_record_burden_interpretation_limited low_record_burden_gene GNAQ gnaq_related_disorder GNAQ-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GNAQ-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene GNAQ human_phenotype_ontology_hp_0025104_mondo_mondo_0016231_medgen_c0340803_orphanet_211247 Capillary malformation Human_Phenotype_Ontology:HP:0025104,MONDO:MONDO:0016231,MedGen:C0340803,Orphanet:211247 1 1 1.0000 condition_record_support_limited 20 0 1 Capillary_malformation 8 low_record_burden_interpretation_limited low_record_burden_gene GNAQ mondo_mondo_0007864_mesh_d007715_medgen_c0022739_omim_149000_orphanet_2346 Angioosteohypertrophic syndrome MONDO:MONDO:0007864,MeSH:D007715,MedGen:C0022739,OMIM:149000,Orphanet:2346 1 1 1.0000 condition_record_support_limited 20 0 1 Angioosteohypertrophic_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene GNAQ human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Abnormal cardiovascular system morphology Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cardiovascular_system_morphology 8 low_record_burden_interpretation_limited low_record_burden_gene GNAO1 medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_intellectual_disability 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAO1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAO1 mondo_mondo_0100062_medgen_cn379639_omim_ps308350 Genetic developmental and epileptic encephalopathy MONDO:MONDO:0100062,MedGen:CN379639,OMIM:PS308350 1 1 1.0000 condition_record_support_limited 20 0 1 Genetic_developmental_and_epileptic_encephalopathy 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAO1 gnao1_related_neurodevelopmental_disorder GNAO1-Related Neurodevelopmental Disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GNAO1-Related_Neurodevelopmental_Disorder 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAO1 medgen_c0424605 Developmental delay MedGen:C0424605 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_delay 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAO1 mondo_mondo_0010632_medgen_c3463992_omim_308350 Developmental and epileptic encephalopathy, 1 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_1 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAO1 human_phenotype_ontology_hp_0001266_human_phenotype_ontology_hp_0002469_human_phenotype_ontology_hp_0006811_human_phenotype_ontology_hp_0007028_human_phenotype_ontology_hp_0007337_medgen_c0085583 Choreoathetosis Human_Phenotype_Ontology:HP:0001266,Human_Phenotype_Ontology:HP:0002469,Human_Phenotype_Ontology:HP:0006811,Human_Phenotype_Ontology:HP:0007028,Human_Phenotype_Ontology:HP:0007337,MedGen:C0085583 1 1 1.0000 condition_record_support_limited 20 0 1 Choreoathetosis 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAL human_phenotype_ontology_hp_0002451_medgen_c0751093 Limb dystonia Human_Phenotype_Ontology:HP:0002451,MedGen:C0751093 1 1 1.0000 condition_record_support_limited 20 0 1 Limb_dystonia 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAL gnal_related_disorder GNAL-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 GNAL-related_disorder 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAL human_phenotype_ontology_hp_0001260_human_phenotype_ontology_hp_0002327_medgen_c0013362 Dysarthria Human_Phenotype_Ontology:HP:0001260,Human_Phenotype_Ontology:HP:0002327,MedGen:C0013362 1 1 1.0000 condition_record_support_limited 20 0 1 Dysarthria 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAI3 mondo_mondo_0013465_medgen_c1841721_omim_613856_orphanet_49382 Achromatopsia 4 MONDO:MONDO:0013465,MedGen:C1841721,OMIM:613856,Orphanet:49382 1 1 1.0000 condition_record_support_limited 20 0 0 Achromatopsia_4 9 low_record_burden_interpretation_limited low_record_burden_gene GNAI2 medgen_c4016143 Ventricular tachycardia, somatic MedGen:C4016143 1 1 1.0000 condition_record_support_limited 20 0 0 Ventricular_tachycardia,_somatic 5 low_record_burden_interpretation_limited low_record_burden_gene GNAI2 medgen_c2750844 Thecoma, somatic MedGen:C2750844 1 1 1.0000 condition_record_support_limited 20 0 1 Thecoma,_somatic 5 low_record_burden_interpretation_limited low_record_burden_gene GNAI2 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 5 low_record_burden_interpretation_limited low_record_burden_gene GNAI2 human_phenotype_ontology_hp_0012646_medgen_c0520578 Retractile testis Human_Phenotype_Ontology:HP:0012646,MedGen:C0520578 1 1 1.0000 condition_record_support_limited 20 0 1 Retractile_testis 5 low_record_burden_interpretation_limited low_record_burden_gene GNAI2 human_phenotype_ontology_hp_0002719_human_phenotype_ontology_hp_0002957_human_phenotype_ontology_hp_0002964_human_phenotype_ontology_hp_0005405_medgen_c0239998 Recurrent infections Human_Phenotype_Ontology:HP:0002719,Human_Phenotype_Ontology:HP:0002957,Human_Phenotype_Ontology:HP:0002964,Human_Phenotype_Ontology:HP:0005405,MedGen:C0239998 1 1 1.0000 condition_record_support_limited 20 0 1 Recurrent_infections 5 low_record_burden_interpretation_limited low_record_burden_gene GNAI2 mondo_mondo_0009050_medgen_c0221406_omim_219090_orphanet_96253 Pituitary dependent hypercortisolism MONDO:MONDO:0009050,MedGen:C0221406,OMIM:219090,Orphanet:96253 1 1 1.0000 condition_record_support_limited 20 0 0 Pituitary_dependent_hypercortisolism 5 low_record_burden_interpretation_limited low_record_burden_gene GNAI2 mondo_mondo_0023283_medgen_c1370419 Ovarian granulosa cell tumor MONDO:MONDO:0023283,MedGen:C1370419 1 1 1.0000 condition_record_support_limited 20 0 1 Ovarian_granulosa_cell_tumor 5 low_record_burden_interpretation_limited low_record_burden_gene GNAI2 human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Motor delay Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 1.0000 condition_record_support_limited 20 0 1 Motor_delay 5 low_record_burden_interpretation_limited low_record_burden_gene GNAI2 human_phenotype_ontology_hp_0040075_mondo_mondo_0005152_medgen_c0020635 Hypopituitarism Human_Phenotype_Ontology:HP:0040075,MONDO:MONDO:0005152,MedGen:C0020635 1 1 1.0000 condition_record_support_limited 20 0 1 Hypopituitarism 5 low_record_burden_interpretation_limited low_record_burden_gene GNAI2 human_phenotype_ontology_hp_0002850_human_phenotype_ontology_hp_0003147_human_phenotype_ontology_hp_0005385_medgen_c0239989 Decreased circulating total IgM Human_Phenotype_Ontology:HP:0002850,Human_Phenotype_Ontology:HP:0003147,Human_Phenotype_Ontology:HP:0005385,MedGen:C0239989 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_circulating_total_IgM 5 low_record_burden_interpretation_limited low_record_burden_gene GNAI2 medgen_c4016392 Adrenocortical tumor, somatic MedGen:C4016392 1 1 1.0000 condition_record_support_limited 20 0 1 Adrenocortical_tumor,_somatic 5 low_record_burden_interpretation_limited low_record_burden_gene GNAI1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 0 Seizure 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAI1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAI1 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNAI1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNA14 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene GNA14 mondo_mondo_0022096_medgen_c0085653 Pyogenic granuloma MONDO:MONDO:0022096,MedGen:C0085653 1 1 1.0000 condition_record_support_limited 20 0 1 Pyogenic_granuloma 1 low_record_burden_interpretation_limited low_record_burden_gene GNA14 mondo_mondo_0016236_medgen_c1367420_orphanet_2122 Kaposiform hemangioendothelioma MONDO:MONDO:0016236,MedGen:C1367420,Orphanet:2122 1 1 1.0000 condition_record_support_limited 20 0 1 Kaposiform_hemangioendothelioma 1 low_record_burden_interpretation_limited low_record_burden_gene GNA14 congenital_tufted_angioma Congenital tufted angioma . 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_tufted_angioma 1 low_record_burden_interpretation_limited low_record_burden_gene GNA11 human_phenotype_ontology_hp_0012721_medgen_c2937220 Venous malformation Human_Phenotype_Ontology:HP:0012721,MedGen:C2937220 1 1 1.0000 condition_record_support_limited 20 0 0 Venous_malformation 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNA11 mondo_mondo_0024291_medgen_c0158570 Vascular malformation MONDO:MONDO:0024291,MedGen:C0158570 1 1 1.0000 condition_record_support_limited 20 0 0 Vascular_malformation 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNA11 mondo_mondo_0008094_medgen_c2931029_omim_163000_orphanet_624 Familial multiple nevi flammei MONDO:MONDO:0008094,MedGen:C2931029,OMIM:163000,Orphanet:624 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_multiple_nevi_flammei 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GNA11 mondo_mondo_0016390_medgen_c1832648_omim_ps146200_orphanet_2238 Familial hypoparathyroidism MONDO:MONDO:0016390,MedGen:C1832648,OMIM:PS146200,Orphanet:2238 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_hypoparathyroidism 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GMPPB mondo_mondo_0700084_medgen_cn305644 Myopathy caused by variation in GMPPB MONDO:MONDO:0700084,MedGen:CN305644 1 1 1.0000 condition_record_support_limited 20 0 0 Myopathy_caused_by_variation_in_GMPPB 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GMPPB human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Limb-girdle muscular dystrophy Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 1.0000 condition_record_support_limited 20 0 1 Limb-girdle_muscular_dystrophy 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GMPPB human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Elevated circulating creatine kinase concentration Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 1 1 1.0000 condition_record_support_limited 20 0 1 Elevated_circulating_creatine_kinase_concentration 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GMPPB autosomal_recessive_gmppb_related_disorders Autosomal recessive GMPPB-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_GMPPB-related_disorders 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GMPPB human_phenotype_ontology_hp_0008942_medgen_c3807306 Acute rhabdomyolysis Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_rhabdomyolysis 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GMPPA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 17 low_record_burden_interpretation_limited low_record_burden_gene GMPPA mondo_mondo_0008983_medgen_c1859091_omim_215510 Chromosomal instability with tissue-specific radiosensitivity MONDO:MONDO:0008983,MedGen:C1859091,OMIM:215510 1 1 1.0000 condition_record_support_limited 20 0 1 Chromosomal_instability_with_tissue-specific_radiosensitivity 17 low_record_burden_interpretation_limited low_record_burden_gene GM2A mondo_mondo_0010100_medgen_c0039373_omim_272800_orphanet_845 Tay-Sachs disease MONDO:MONDO:0010100,MedGen:C0039373,OMIM:272800,Orphanet:845 1 1 1.0000 condition_record_support_limited 20 0 1 Tay-Sachs_disease 16 low_record_burden_interpretation_limited low_record_burden_gene GLUD2 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 1 low_record_burden_interpretation_limited low_record_burden_gene GLUD1 glud1_related_disorder GLUD1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 GLUD1-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene GLUD1 mondo_mondo_0017182_medgen_c3888018_orphanet_276525 Familial hyperinsulinism MONDO:MONDO:0017182,MedGen:C3888018,Orphanet:276525 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_hyperinsulinism 15 low_record_burden_interpretation_limited low_record_burden_gene GLUD1 familial_hyperinsulinemia Familial hyperinsulinemia . 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_hyperinsulinemia 15 low_record_burden_interpretation_limited low_record_burden_gene GLT8D1 human_phenotype_ontology_hp_0002145_mondo_mondo_0017276_medgen_c0338451_omim_600274_orphanet_282 Frontotemporal dementia Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282 1 1 1.0000 condition_record_support_limited 20 0 0 Frontotemporal_dementia 1 low_record_burden_interpretation_limited low_record_burden_gene GLS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 18 low_record_burden_interpretation_limited low_record_burden_gene GLS human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Esophageal atresia/tracheoesophageal fistula Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 1.0000 condition_record_support_limited 20 0 0 Esophageal_atresia/tracheoesophageal_fistula 18 low_record_burden_interpretation_limited low_record_burden_gene GLRX5 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene GLRB condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLRB human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 0 Seizure 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLRA1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLRA1 glra1_related_disorder GLRA1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GLRA1-related_disorder 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLMN human_phenotype_ontology_hp_0012721_medgen_c2937220 Venous malformation Human_Phenotype_Ontology:HP:0012721,MedGen:C2937220 1 1 1.0000 condition_record_support_limited 20 0 1 Venous_malformation 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLMN mondo_mondo_0007203_medgen_c0346072_omim_112200_orphanet_1059 Blue rubber bleb nevus MONDO:MONDO:0007203,MedGen:C0346072,OMIM:112200,Orphanet:1059 1 1 1.0000 condition_record_support_limited 20 0 0 Blue_rubber_bleb_nevus 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLIS3 glis3_related_disorder GLIS3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GLIS3-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene GLIS2 mondo_mondo_0012680_medgen_c1969092_omim_611498_orphanet_655 Nephronophthisis 7 MONDO:MONDO:0012680,MedGen:C1969092,OMIM:611498,Orphanet:655 1 1 1.0000 condition_record_support_limited 20 0 1 Nephronophthisis_7 1 low_record_burden_interpretation_limited low_record_burden_gene GLIS2 human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Nephronophthisis Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 1 1 1.0000 condition_record_support_limited 20 0 1 Nephronophthisis 1 low_record_burden_interpretation_limited low_record_burden_gene GLIS2 glis2_related_disorder GLIS2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GLIS2-related_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene GLI3 medgen_c0265553 polysyndactyly MedGen:C0265553 1 1 1.0000 condition_record_support_limited 20 0 0 polysyndactyly 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI3 human_phenotype_ontology_hp_0005696_mondo_mondo_0019673_medgen_c3887487_orphanet_93334 Postaxial polydactyly type A Human_Phenotype_Ontology:HP:0005696,MONDO:MONDO:0019673,MedGen:C3887487,Orphanet:93334 1 1 1.0000 condition_record_support_limited 20 0 1 Postaxial_polydactyly_type_A 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI3 pituitary_hormone_deficiency Pituitary hormone deficiency . 1 1 1.0000 condition_record_support_limited 20 0 1 Pituitary_hormone_deficiency 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI3 human_phenotype_ontology_hp_0001161_medgen_c0158733 Hand polydactyly Human_Phenotype_Ontology:HP:0001161,MedGen:C0158733 1 1 1.0000 condition_record_support_limited 20 0 0 Hand_polydactyly 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI3 medgen_c4016299 Greig cephalopolysyndactyly syndrome, severe MedGen:C4016299 1 1 1.0000 condition_record_support_limited 20 0 0 Greig_cephalopolysyndactyly_syndrome,_severe 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI3 human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 1.0000 condition_record_support_limited 20 0 0 Craniosynostosis_syndrome 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI3 human_phenotype_ontology_hp_0001197_medgen_c4025797 Abnormality of prenatal development or birth Human_Phenotype_Ontology:HP:0001197,MedGen:C4025797 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_prenatal_development_or_birth 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI2 mondo_mondo_0014606_medgen_c4225351_omim_616364_orphanet_468678 Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome MONDO:MONDO:0014606,MedGen:C4225351,OMIM:616364,Orphanet:468678 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI2 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_disorder 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI2 human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 1.0000 condition_record_support_limited 20 0 1 Craniosynostosis_syndrome 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI2 mondo_mondo_0013099_medgen_c4273747_omim_ps613038_orphanet_95494 Combined pituitary hormone deficiencies, genetic form MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038,Orphanet:95494 1 1 1.0000 condition_record_support_limited 20 0 0 Combined_pituitary_hormone_deficiencies,_genetic_form 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLI2 human_phenotype_ontology_hp_0002350_medgen_c1847762 Cerebellar cyst Human_Phenotype_Ontology:HP:0002350,MedGen:C1847762 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebellar_cyst 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLE1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLDN mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 26 compact_adjacent_exon_block_opportunity local_compact_architecture GLDN human_phenotype_ontology_hp_0001371_human_phenotype_ontology_hp_0001372_human_phenotype_ontology_hp_0001381_human_phenotype_ontology_hp_0005053_human_phenotype_ontology_hp_0005189_human_phenotype_ontology_hp_0005660_medgen_c0333068 Flexion contracture Human_Phenotype_Ontology:HP:0001371,Human_Phenotype_Ontology:HP:0001372,Human_Phenotype_Ontology:HP:0001381,Human_Phenotype_Ontology:HP:0005053,Human_Phenotype_Ontology:HP:0005189,Human_Phenotype_Ontology:HP:0005660,MedGen:C0333068 1 1 1.0000 condition_record_support_limited 20 0 1 Flexion_contracture 26 compact_adjacent_exon_block_opportunity local_compact_architecture GLDN human_phenotype_ontology_hp_0002803_mondo_mondo_0022823_medgen_c0332878 Congenital contracture Human_Phenotype_Ontology:HP:0002803,MONDO:MONDO:0022823,MedGen:C0332878 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_contracture 26 compact_adjacent_exon_block_opportunity local_compact_architecture GLDN human_phenotype_ontology_hp_0005957_medgen_c3808046 Breathing dysregulation Human_Phenotype_Ontology:HP:0005957,MedGen:C3808046 1 1 1.0000 condition_record_support_limited 20 0 1 Breathing_dysregulation 26 compact_adjacent_exon_block_opportunity local_compact_architecture GLDN human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis_multiplex_congenita 26 compact_adjacent_exon_block_opportunity local_compact_architecture GLDC smith_magenis_syndrome_like Smith-Magenis Syndrome-like . 1 1 1.0000 condition_record_support_limited 20 0 0 Smith-Magenis_Syndrome-like 481 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLDC human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 481 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLDC human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 1.0000 condition_record_support_limited 20 0 1 Obesity 481 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLDC human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 481 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLDC mondo_mondo_0100574_medgen_c0014548 Generalized epilepsy MONDO:MONDO:0100574,MedGen:C0014548 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_epilepsy 481 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLB1 human_phenotype_ontology_hp_0002655_human_phenotype_ontology_hp_0002776_human_phenotype_ontology_hp_0005893_mondo_mondo_0016761_medgen_c0038015_orphanet_253 Spondyloepiphyseal dysplasia Human_Phenotype_Ontology:HP:0002655,Human_Phenotype_Ontology:HP:0002776,Human_Phenotype_Ontology:HP:0005893,MONDO:MONDO:0016761,MedGen:C0038015,Orphanet:253 1 1 1.0000 condition_record_support_limited 20 0 1 Spondyloepiphyseal_dysplasia 322 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLB1 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_ataxia 322 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLB1 mondo_mondo_0015762_medgen_c0268312_omim_ps211600_orphanet_172 Progressive familial intrahepatic cholestasis MONDO:MONDO:0015762,MedGen:C0268312,OMIM:PS211600,Orphanet:172 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_familial_intrahepatic_cholestasis 322 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLB1 mondo_mondo_0002561_medgen_c0085078_orphanet_68366 Lysosomal storage disease MONDO:MONDO:0002561,MedGen:C0085078,Orphanet:68366 1 1 1.0000 condition_record_support_limited 20 0 1 Lysosomal_storage_disease 322 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLA human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 1.0000 condition_record_support_limited 20 0 1 Nephrotic_syndrome 1115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GLA mondo_mondo_0007369_medgen_c0162531_omim_121300_orphanet_79273 Hereditary coproporphyria MONDO:MONDO:0007369,MedGen:C0162531,OMIM:121300,Orphanet:79273 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_coproporphyria 1115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GK gk_related_disorder GK-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 GK-related_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJC2 human_phenotype_ontology_hp_0003269_mondo_mondo_0010714_medgen_c0205711_omim_312080_orphanet_702 Pelizaeus-Merzbacher disease Human_Phenotype_Ontology:HP:0003269,MONDO:MONDO:0010714,MedGen:C0205711,OMIM:312080,Orphanet:702 1 1 1.0000 condition_record_support_limited 20 0 1 Pelizaeus-Merzbacher_disease 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJC2 gjc2_related_disorder GJC2-related disorder MedGen:CN230087 1 1 1.0000 condition_record_support_limited 20 0 1 GJC2-related_disorder 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB6 mondo_mondo_0010576_medgen_c1844678_omim_304400_orphanet_383 X-linked mixed hearing loss with perilymphatic gusher MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400,Orphanet:383 1 1 1.0000 condition_record_support_limited 20 0 1 X-linked_mixed_hearing_loss_with_perilymphatic_gusher 10 low_record_burden_interpretation_limited low_record_burden_gene GJB6 mesh_c580334_medgen_c3711374 Nonsyndromic Deafness MeSH:C580334,MedGen:C3711374 1 1 1.0000 condition_record_support_limited 20 0 0 Nonsyndromic_Deafness 10 low_record_burden_interpretation_limited low_record_burden_gene GJB6 monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 0 Monogenic_hearing_loss 10 low_record_burden_interpretation_limited low_record_burden_gene GJB6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 10 low_record_burden_interpretation_limited low_record_burden_gene GJB6 gjb6_related_disorder GJB6-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GJB6-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene GJB3 ichthyosis_and_erythrokeratoderma Ichthyosis and erythrokeratoderma . 1 1 1.0000 condition_record_support_limited 20 0 0 Ichthyosis_and_erythrokeratoderma 11 low_record_burden_interpretation_limited low_record_burden_gene GJB3 mondo_mondo_0009076_medgen_c2673759_omim_220290_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 1A MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_nonsyndromic_hearing_loss_1A 11 low_record_burden_interpretation_limited low_record_burden_gene GJB3 mondo_mondo_0012976_medgen_c2675236_omim_612644_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 2B MONDO:MONDO:0012976,MedGen:C2675236,OMIM:612644,Orphanet:90635 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_nonsyndromic_hearing_loss_2B 11 low_record_burden_interpretation_limited low_record_burden_gene GJB2 human_phenotype_ontology_hp_0008534_human_phenotype_ontology_hp_0008574_human_phenotype_ontology_hp_0008625_medgen_c4021533 Severe sensorineural hearing impairment Human_Phenotype_Ontology:HP:0008534,Human_Phenotype_Ontology:HP:0008574,Human_Phenotype_Ontology:HP:0008625,MedGen:C4021533 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_sensorineural_hearing_impairment 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 human_phenotype_ontology_hp_0000397_human_phenotype_ontology_hp_0000406_human_phenotype_ontology_hp_0000408_human_phenotype_ontology_hp_0008592_human_phenotype_ontology_hp_0008601_human_phenotype_ontology_hp_0008617_medgen_c1843156 Progressive sensorineural hearing impairment Human_Phenotype_Ontology:HP:0000397,Human_Phenotype_Ontology:HP:0000406,Human_Phenotype_Ontology:HP:0000408,Human_Phenotype_Ontology:HP:0008592,Human_Phenotype_Ontology:HP:0008601,Human_Phenotype_Ontology:HP:0008617,MedGen:C1843156 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_sensorineural_hearing_impairment 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 porokeratotic_adnexal_ostial_nevus Porokeratotic adnexal ostial nevus . 1 1 1.0000 condition_record_support_limited 20 0 1 Porokeratotic_adnexal_ostial_nevus 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 Noonan syndrome 1 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 1 1 1.0000 condition_record_support_limited 20 0 0 Noonan_syndrome_1 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 ichthyosis_and_erythrokeratoderma Ichthyosis and erythrokeratoderma . 1 1 1.0000 condition_record_support_limited 20 0 1 Ichthyosis_and_erythrokeratoderma 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 mondo_mondo_0100213_medgen_c5399971_omim_308205_orphanet_2273_orphanet_85284 IFAP syndrome 1, with or without BRESHECK syndrome MONDO:MONDO:0100213,MedGen:C5399971,OMIM:308205,Orphanet:2273,Orphanet:85284 1 1 1.0000 condition_record_support_limited 20 0 1 IFAP_syndrome_1,_with_or_without_BRESHECK_syndrome 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 medgen_c2673760 Deafness, digenic, GJB2/GJB6 MedGen:C2673760 1 1 1.0000 condition_record_support_limited 20 0 1 Deafness,_digenic,_GJB2/GJB6 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 medgen_c2673761 Deafness, digenic, GJB2/GJB3 MedGen:C2673761 1 1 1.0000 condition_record_support_limited 20 0 1 Deafness,_digenic,_GJB2/GJB3 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 crebbp_related_disorder CREBBP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CREBBP-related_disorder 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Bilateral sensorineural hearing impairment Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_sensorineural_hearing_impairment 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB2 human_phenotype_ontology_hp_0008513_human_phenotype_ontology_hp_0008536_medgen_c0452136 Bilateral conductive hearing impairment Human_Phenotype_Ontology:HP:0008513,Human_Phenotype_Ontology:HP:0008536,MedGen:C0452136 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_conductive_hearing_impairment 247 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB1 hereditary_neuropathy_or_pain_disorder Hereditary neuropathy or pain disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_neuropathy_or_pain_disorder 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB1 human_phenotype_ontology_hp_0006967_human_phenotype_ontology_hp_0008934_human_phenotype_ontology_hp_0008951_human_phenotype_ontology_hp_0009038_human_phenotype_ontology_hp_0009130_medgen_c0239830 Hand muscle atrophy Human_Phenotype_Ontology:HP:0006967,Human_Phenotype_Ontology:HP:0008934,Human_Phenotype_Ontology:HP:0008951,Human_Phenotype_Ontology:HP:0009038,Human_Phenotype_Ontology:HP:0009130,MedGen:C0239830 1 1 1.0000 condition_record_support_limited 20 0 0 Hand_muscle_atrophy 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB1 gjb1_related_disorder GJB1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GJB1-related_disorder 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJB1 mondo_mondo_0007790_medgen_c0011195_omim_145900_orphanet_64748 Dejerine-Sottas disease MONDO:MONDO:0007790,MedGen:C0011195,OMIM:145900,Orphanet:64748 1 1 1.0000 condition_record_support_limited 20 0 1 Dejerine-Sottas_disease 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA8 acorea_microphthalmia_and_cataract_syndrome acorea,microphthalmia and cataract syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 acorea,microphthalmia_and_cataract_syndrome 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA8 human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Microphthalmia Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 1 1 1.0000 condition_record_support_limited 20 0 0 Microphthalmia 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA5 medgen_c4015977 Atrial fibrillation, somatic MedGen:C4015977 1 1 1.0000 condition_record_support_limited 20 0 0 Atrial_fibrillation,_somatic 7 low_record_burden_interpretation_limited low_record_burden_gene GJA4 mondo_mondo_0003110_medgen_c0687140 Skin hemangioma MONDO:MONDO:0003110,MedGen:C0687140 1 1 1.0000 condition_record_support_limited 20 0 1 Skin_hemangioma 1 low_record_burden_interpretation_limited low_record_burden_gene GJA4 human_phenotype_ontology_hp_0031207_mondo_mondo_0002404_medgen_c0238246 Hepatic hemangioma Human_Phenotype_Ontology:HP:0031207,MONDO:MONDO:0002404,MedGen:C0238246 1 1 1.0000 condition_record_support_limited 20 0 1 Hepatic_hemangioma 1 low_record_burden_interpretation_limited low_record_burden_gene GJA4 cutaneous_venous_malformation Cutaneous venous malformation . 1 1 1.0000 condition_record_support_limited 20 0 1 Cutaneous_venous_malformation 1 low_record_burden_interpretation_limited low_record_burden_gene GJA3 mondo_mondo_0011402_medgen_c1858726_omim_604168_orphanet_48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:MONDO:0011402,MedGen:C1858726,OMIM:604168,Orphanet:48431 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cataracts-facial_dysmorphism-neuropathy_syndrome 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA1 human_phenotype_ontology_hp_0000430_human_phenotype_ontology_hp_0004497_human_phenotype_ontology_hp_0004507_human_phenotype_ontology_hp_0005276_human_phenotype_ontology_hp_0005277_human_phenotype_ontology_hp_0005286_medgen_c1834055 Underdeveloped nasal alae Human_Phenotype_Ontology:HP:0000430,Human_Phenotype_Ontology:HP:0004497,Human_Phenotype_Ontology:HP:0004507,Human_Phenotype_Ontology:HP:0005276,Human_Phenotype_Ontology:HP:0005277,Human_Phenotype_Ontology:HP:0005286,MedGen:C1834055 1 1 1.0000 condition_record_support_limited 20 0 1 Underdeveloped_nasal_alae 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA1 human_phenotype_ontology_hp_0002237_human_phenotype_ontology_hp_0002291_human_phenotype_ontology_hp_0004522_human_phenotype_ontology_hp_0004538_human_phenotype_ontology_hp_0008070_medgen_c5551005 Sparse hair Human_Phenotype_Ontology:HP:0002237,Human_Phenotype_Ontology:HP:0002291,Human_Phenotype_Ontology:HP:0004522,Human_Phenotype_Ontology:HP:0004538,Human_Phenotype_Ontology:HP:0008070,MedGen:C5551005 1 1 1.0000 condition_record_support_limited 20 0 1 Sparse_hair 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA1 human_phenotype_ontology_hp_0000446_human_phenotype_ontology_hp_0100782_medgen_c4551564 Narrow nasal bridge Human_Phenotype_Ontology:HP:0000446,Human_Phenotype_Ontology:HP:0100782,MedGen:C4551564 1 1 1.0000 condition_record_support_limited 20 0 1 Narrow_nasal_bridge 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA1 mondo_mondo_0009433_medgen_c4551854_omim_241550_orphanet_2248 Hypoplastic left heart syndrome 1 MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550,Orphanet:2248 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplastic_left_heart_syndrome_1 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA1 human_phenotype_ontology_hp_0006057_human_phenotype_ontology_hp_0006101_medgen_c0221352 Finger syndactyly Human_Phenotype_Ontology:HP:0006057,Human_Phenotype_Ontology:HP:0006101,MedGen:C0221352 1 1 1.0000 condition_record_support_limited 20 0 1 Finger_syndactyly 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA1 human_phenotype_ontology_hp_0012098_medgen_c2919341 Edema of the dorsum of feet Human_Phenotype_Ontology:HP:0012098,MedGen:C2919341 1 1 1.0000 condition_record_support_limited 20 0 1 Edema_of_the_dorsum_of_feet 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA1 human_phenotype_ontology_hp_0001214_human_phenotype_ontology_hp_0005637_human_phenotype_ontology_hp_0006054_human_phenotype_ontology_hp_0006220_human_phenotype_ontology_hp_0010554_medgen_c4021254 Cutaneous finger syndactyly Human_Phenotype_Ontology:HP:0001214,Human_Phenotype_Ontology:HP:0005637,Human_Phenotype_Ontology:HP:0006054,Human_Phenotype_Ontology:HP:0006220,Human_Phenotype_Ontology:HP:0010554,MedGen:C4021254 1 1 1.0000 condition_record_support_limited 20 0 1 Cutaneous_finger_syndactyly 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA1 mondo_mondo_0009035_medgen_c2931244_omim_218400_orphanet_1522 Craniometaphyseal dysplasia, autosomal recessive MONDO:MONDO:0009035,MedGen:C2931244,OMIM:218400,Orphanet:1522 1 1 1.0000 condition_record_support_limited 20 0 1 Craniometaphyseal_dysplasia,_autosomal_recessive 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA1 human_phenotype_ontology_hp_0000204_mondo_mondo_0016043_medgen_c0008924_orphanet_199302 Cleft upper lip Human_Phenotype_Ontology:HP:0000204,MONDO:MONDO:0016043,MedGen:C0008924,Orphanet:199302 1 1 1.0000 condition_record_support_limited 20 0 1 Cleft_upper_lip 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA1 human_phenotype_ontology_hp_0001143_human_phenotype_ontology_hp_0001585_human_phenotype_ontology_hp_0007633_medgen_c1843496 Bilateral microphthalmos Human_Phenotype_Ontology:HP:0001143,Human_Phenotype_Ontology:HP:0001585,Human_Phenotype_Ontology:HP:0007633,MedGen:C1843496 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_microphthalmos 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA1 human_phenotype_ontology_hp_0000427_human_phenotype_ontology_hp_0000435_human_phenotype_ontology_hp_0000441_human_phenotype_ontology_hp_0000463_medgen_c1840077 Anteverted nares Human_Phenotype_Ontology:HP:0000427,Human_Phenotype_Ontology:HP:0000435,Human_Phenotype_Ontology:HP:0000441,Human_Phenotype_Ontology:HP:0000463,MedGen:C1840077 1 1 1.0000 condition_record_support_limited 20 0 1 Anteverted_nares 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GJA1 human_phenotype_ontology_hp_0010705_medgen_c4023731 4-5 finger cutaneous syndactyly Human_Phenotype_Ontology:HP:0010705,MedGen:C4023731 1 1 1.0000 condition_record_support_limited 20 0 1 4-5_finger_cutaneous_syndactyly 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GIPC3 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 0 Sensorineural_hearing_loss_disorder 28 compact_adjacent_exon_block_opportunity local_compact_architecture GIPC3 monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 0 Monogenic_hearing_loss 28 compact_adjacent_exon_block_opportunity local_compact_architecture GIPC3 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive 28 compact_adjacent_exon_block_opportunity local_compact_architecture GIPC3 gipc3_related_disorder GIPC3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 GIPC3-related_disorder 28 compact_adjacent_exon_block_opportunity local_compact_architecture GIMAP6 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene GIMAP6 primary_immune_deficiency Primary Immune Deficiency . 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_Immune_Deficiency 1 low_record_burden_interpretation_limited low_record_burden_gene GIGYF2 human_phenotype_ontology_hp_0011533_mondo_mondo_0008663_medgen_c1860405_omim_193230_orphanet_91496 Snowflake vitreoretinal degeneration Human_Phenotype_Ontology:HP:0011533,MONDO:MONDO:0008663,MedGen:C1860405,OMIM:193230,Orphanet:91496 1 1 1.0000 condition_record_support_limited 20 0 1 Snowflake_vitreoretinal_degeneration 11 low_record_burden_interpretation_limited low_record_burden_gene GIGYF2 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 11 low_record_burden_interpretation_limited low_record_burden_gene GIGYF2 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 1 Leber_congenital_amaurosis 11 low_record_burden_interpretation_limited low_record_burden_gene GIGYF1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene GIGYF1 gigyf1_associated_disorder GIGYF1-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 GIGYF1-associated_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene GHSR condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene GHSR mondo_mondo_0014403_medgen_c5887324_omim_615925_orphanet_314811 Short stature due to growth hormone secretagogue receptor deficiency MONDO:MONDO:0014403,MedGen:C5887324,OMIM:615925,Orphanet:314811 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature_due_to_growth_hormone_secretagogue_receptor_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene GH1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GH1 gh1_related_disorder GH1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GH1-related_disorder 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GGPS1 mondo_mondo_0008051_medgen_c0410207_omim_ps160565_orphanet_2593 Myopathy with tubular aggregates MONDO:MONDO:0008051,MedGen:C0410207,OMIM:PS160565,Orphanet:2593 1 1 1.0000 condition_record_support_limited 20 0 0 Myopathy_with_tubular_aggregates 4 low_record_burden_interpretation_limited low_record_burden_gene GFRA1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene GFRA1 gfra1_related_disorder GFRA1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GFRA1-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene GFPT1 gfpt1_related_myasthenic_syndrome GFPT1-related myasthenic syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 GFPT1-related_myasthenic_syndrome 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GFPT1 gfpt1_related_disorder GFPT1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GFPT1-related_disorder 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GFPT1 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GFM2 gfm2_related_disorder GFM2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 GFM2-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene GFM1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 202 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GFI1B human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombocytopenia 11 low_record_burden_interpretation_limited low_record_burden_gene GFI1B mondo_mondo_0008495_medgen_c0032197_omim_185050_orphanet_734 Storage pool disease of platelets MONDO:MONDO:0008495,MedGen:C0032197,OMIM:185050,Orphanet:734 1 1 1.0000 condition_record_support_limited 20 0 0 Storage_pool_disease_of_platelets 11 low_record_burden_interpretation_limited low_record_burden_gene GFI1B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene GFI1B human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_bleeding 11 low_record_burden_interpretation_limited low_record_burden_gene GFI1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene GFI1 mondo_mondo_0013139_medgen_c2751288_omim_613107_orphanet_486 Neutropenia, severe congenital, 2, autosomal dominant MONDO:MONDO:0013139,MedGen:C2751288,OMIM:613107,Orphanet:486 1 1 1.0000 condition_record_support_limited 20 0 1 Neutropenia,_severe_congenital,_2,_autosomal_dominant 1 low_record_burden_interpretation_limited low_record_burden_gene GFAP mondo_mondo_0015007_medgen_c4284592_omim_617296_orphanet_521390 Spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:MONDO:0015007,MedGen:C4284592,OMIM:617296,Orphanet:521390 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_paraplegia,_intellectual_disability,_nystagmus,_and_obesity 74 compact_adjacent_exon_block_opportunity local_compact_architecture GFAP human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 1.0000 condition_record_support_limited 20 0 0 Scoliosis 74 compact_adjacent_exon_block_opportunity local_compact_architecture GFAP human_phenotype_ontology_hp_0007100_medgen_c1865119 Progressive ventriculomegaly Human_Phenotype_Ontology:HP:0007100,MedGen:C1865119 1 1 1.0000 condition_record_support_limited 20 0 0 Progressive_ventriculomegaly 74 compact_adjacent_exon_block_opportunity local_compact_architecture GFAP mondo_mondo_0018868_medgen_c0023522_omim_250100_orphanet_512 Metachromatic leukodystrophy MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,Orphanet:512 1 1 1.0000 condition_record_support_limited 20 0 0 Metachromatic_leukodystrophy 74 compact_adjacent_exon_block_opportunity local_compact_architecture GFAP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 74 compact_adjacent_exon_block_opportunity local_compact_architecture GET3 mondo_mondo_0859358_medgen_c5774296_omim_620203 Cardiomyopathy, dilated, 2H MONDO:MONDO:0859358,MedGen:C5774296,OMIM:620203 1 1 1.0000 condition_record_support_limited 20 0 0 Cardiomyopathy,_dilated,_2H 1 low_record_burden_interpretation_limited low_record_burden_gene GEMIN5 gemin5_related_neurodevelopmental_disorder GEMIN5-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GEMIN5-related_neurodevelopmental_disorder 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GEMIN4 severe_dystonia Severe dystonia MedGen:CN228291 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_dystonia 3 low_record_burden_interpretation_limited low_record_burden_gene GEMIN4 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 3 low_record_burden_interpretation_limited low_record_burden_gene GEMIN4 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 3 low_record_burden_interpretation_limited low_record_burden_gene GEMIN4 human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_cataract 3 low_record_burden_interpretation_limited low_record_burden_gene GDI1 mondo_mondo_0019181_medgen_c3501611_omim_ps309530_orphanet_777 Non-syndromic X-linked intellectual disability MONDO:MONDO:0019181,MedGen:C3501611,OMIM:PS309530,Orphanet:777 1 1 1.0000 condition_record_support_limited 20 0 0 Non-syndromic_X-linked_intellectual_disability 15 low_record_burden_interpretation_limited low_record_burden_gene GDI1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 15 low_record_burden_interpretation_limited low_record_burden_gene GDF9 medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 1 1 1.0000 condition_record_support_limited 20 0 0 Genetic_non-acquired_premature_ovarian_failure 6 low_record_burden_interpretation_limited low_record_burden_gene GDF6 mondo_mondo_0054752_medgen_c4693531_omim_617898 Multiple synostoses syndrome 4 MONDO:MONDO:0054752,MedGen:C4693531,OMIM:617898 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_synostoses_syndrome_4 5 low_record_burden_interpretation_limited low_record_burden_gene GDF6 mondo_mondo_0014145_medgen_c3715164_omim_615360_orphanet_65 Leber congenital amaurosis 17 MONDO:MONDO:0014145,MedGen:C3715164,OMIM:615360,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 0 Leber_congenital_amaurosis_17 5 low_record_burden_interpretation_limited low_record_burden_gene GDF6 mondo_mondo_0007306_medgen_c1861689_omim_118100_orphanet_2345 Klippel-Feil syndrome 1, autosomal dominant MONDO:MONDO:0007306,MedGen:C1861689,OMIM:118100,Orphanet:2345 1 1 1.0000 condition_record_support_limited 20 0 0 Klippel-Feil_syndrome_1,_autosomal_dominant 5 low_record_burden_interpretation_limited low_record_burden_gene GDF2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene GDF2 human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Pulmonary arterial hypertension Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 1 1 1.0000 condition_record_support_limited 20 0 1 Pulmonary_arterial_hypertension 14 low_record_burden_interpretation_limited low_record_burden_gene GDF2 gdf2_related_vasculopathy GDF2-related vasculopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 GDF2-related_vasculopathy 14 low_record_burden_interpretation_limited low_record_burden_gene GDF11 mondo_mondo_0030871_medgen_c5436851_omim_619122 Vertebral hypersegmentation and orofacial anomalies MONDO:MONDO:0030871,MedGen:C5436851,OMIM:619122 1 1 1.0000 condition_record_support_limited 20 0 1 Vertebral_hypersegmentation_and_orofacial_anomalies 1 low_record_burden_interpretation_limited low_record_burden_gene GDF11 human_phenotype_ontology_hp_0000202_mondo_mondo_0000358_medgen_c3266076_omim_ps119530 Orofacial cleft Human_Phenotype_Ontology:HP:0000202,MONDO:MONDO:0000358,MedGen:C3266076,OMIM:PS119530 1 1 1.0000 condition_record_support_limited 20 0 1 Orofacial_cleft 1 low_record_burden_interpretation_limited low_record_burden_gene GDF1 mondo_mondo_0018677_medgen_c3178805_omim_ps306955_orphanet_450 Visceral heterotaxy MONDO:MONDO:0018677,MedGen:C3178805,OMIM:PS306955,Orphanet:450 1 1 1.0000 condition_record_support_limited 20 0 0 Visceral_heterotaxy 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDF1 human_phenotype_ontology_hp_0001669_mondo_mondo_0000153_medgen_c0040761_orphanet_216675 Transposition of the great arteries Human_Phenotype_Ontology:HP:0001669,MONDO:MONDO:0000153,MedGen:C0040761,Orphanet:216675 1 1 1.0000 condition_record_support_limited 20 0 1 Transposition_of_the_great_arteries 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDF1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDF1 human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Heterotaxy Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 1 1 1.0000 condition_record_support_limited 20 0 1 Heterotaxy 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDF1 human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 1.0000 condition_record_support_limited 20 0 1 Heart,_malformation_of 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDF1 gdf1_related_disorder GDF1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GDF1-related_disorder 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDF1 gdf1_related_disorders GDF1-RELATED DISORDERS . 1 1 1.0000 condition_record_support_limited 20 0 1 GDF1-RELATED_DISORDERS 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDF1 mondo_mondo_0000119_medgen_cn377732 Congenital heart defects, multiple types MONDO:MONDO:0000119,MedGen:CN377732 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_heart_defects,_multiple_types 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDAP2 gdap2_related_disorder GDAP2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 GDAP2-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene GDAP1 human_phenotype_ontology_hp_0000763_human_phenotype_ontology_hp_0003410_human_phenotype_ontology_hp_0006815_human_phenotype_ontology_hp_0007043_human_phenotype_ontology_hp_0007142_mondo_mondo_0002321_medgen_c0151313 Sensory neuropathy Human_Phenotype_Ontology:HP:0000763,Human_Phenotype_Ontology:HP:0003410,Human_Phenotype_Ontology:HP:0006815,Human_Phenotype_Ontology:HP:0007043,Human_Phenotype_Ontology:HP:0007142,MONDO:MONDO:0002321,MedGen:C0151313 1 1 1.0000 condition_record_support_limited 20 0 1 Sensory_neuropathy 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDAP1 human_phenotype_ontology_hp_0001271_human_phenotype_ontology_hp_0006941_human_phenotype_ontology_hp_0007287_mondo_mondo_0001824_medgen_c0152025 Polyneuropathy Human_Phenotype_Ontology:HP:0001271,Human_Phenotype_Ontology:HP:0006941,Human_Phenotype_Ontology:HP:0007287,MONDO:MONDO:0001824,MedGen:C0152025 1 1 1.0000 condition_record_support_limited 20 0 1 Polyneuropathy 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDAP1 human_phenotype_ontology_hp_0003477_human_phenotype_ontology_hp_0006814_human_phenotype_ontology_hp_0006842_human_phenotype_ontology_hp_0007169_human_phenotype_ontology_hp_0008304_mondo_mondo_0004183_medgen_c1263857 Peripheral axonal neuropathy Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857 1 1 1.0000 condition_record_support_limited 20 0 1 Peripheral_axonal_neuropathy 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDAP1 human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Elevated circulating creatine kinase concentration Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 1 1 1.0000 condition_record_support_limited 20 0 1 Elevated_circulating_creatine_kinase_concentration 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDAP1 human_phenotype_ontology_hp_0002911_human_phenotype_ontology_hp_0003155_human_phenotype_ontology_hp_0003636_human_phenotype_ontology_hp_0008296_medgen_c1314665 Elevated circulating alkaline phosphatase concentration Human_Phenotype_Ontology:HP:0002911,Human_Phenotype_Ontology:HP:0003155,Human_Phenotype_Ontology:HP:0003636,Human_Phenotype_Ontology:HP:0008296,MedGen:C1314665 1 1 1.0000 condition_record_support_limited 20 0 1 Elevated_circulating_alkaline_phosphatase_concentration 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GDAP1 mondo_mondo_0018995_medgen_c4082197_orphanet_64749 Charcot-Marie-Tooth disease type 4 MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease_type_4 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCNT2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 12 low_record_burden_interpretation_limited low_record_burden_gene GCNT2 gcnt2_related_disorder GCNT2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GCNT2-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene GCNA human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Azoospermia Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 1.0000 condition_record_support_limited 20 0 1 Azoospermia 4 low_record_burden_interpretation_limited low_record_burden_gene GCM2 gcm2_related_disorder GCM2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GCM2-related_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCK mondo_mondo_0014317_medgen_c3810350_omim_615715_orphanet_401764 Pancytopenia-developmental delay syndrome MONDO:MONDO:0014317,MedGen:C3810350,OMIM:615715,Orphanet:401764 1 1 1.0000 condition_record_support_limited 20 0 1 Pancytopenia-developmental_delay_syndrome 655 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCK mondo_mondo_0009623_medgen_c0398791_omim_251260_orphanet_647 Microcephaly, normal intelligence and immunodeficiency MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260,Orphanet:647 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly,_normal_intelligence_and_immunodeficiency 655 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCK mondo_mondo_0007452_medgen_c1852093_omim_125850_orphanet_552 Maturity-onset diabetes of the young type 1 MONDO:MONDO:0007452,MedGen:C1852093,OMIM:125850,Orphanet:552 1 1 1.0000 condition_record_support_limited 20 0 1 Maturity-onset_diabetes_of_the_young_type_1 655 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCK mondo_mondo_0017182_medgen_c3888018_orphanet_276525 Familial hyperinsulinism MONDO:MONDO:0017182,MedGen:C3888018,Orphanet:276525 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_hyperinsulinism 655 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCK human_phenotype_ontology_hp_0000819_human_phenotype_ontology_hp_0004908_human_phenotype_ontology_hp_0008217_human_phenotype_ontology_hp_0008234_human_phenotype_ontology_hp_0008260_mondo_mondo_0005015_medgen_c0011849 Diabetes mellitus Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849 1 1 1.0000 condition_record_support_limited 20 0 1 Diabetes_mellitus 655 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCK mondo_mondo_0010396_medgen_c4750718_omim_300672_orphanet_1934_orphanet_3451_orphanet_505652 Developmental and epileptic encephalopathy, 2 MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:1934,Orphanet:3451,Orphanet:505652 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_2 655 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCH1 human_phenotype_ontology_hp_0002360_medgen_c0037317 Sleep disturbance Human_Phenotype_Ontology:HP:0002360,MedGen:C0037317 1 1 1.0000 condition_record_support_limited 20 0 1 Sleep_disturbance 113 compact_adjacent_exon_block_opportunity local_compact_architecture GCH1 human_phenotype_ontology_hp_0002063_medgen_c0026837 Rigidity Human_Phenotype_Ontology:HP:0002063,MedGen:C0026837 1 1 1.0000 condition_record_support_limited 20 0 1 Rigidity 113 compact_adjacent_exon_block_opportunity local_compact_architecture GCH1 human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Muscle weakness Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 1 1 1.0000 condition_record_support_limited 20 0 1 Muscle_weakness 113 compact_adjacent_exon_block_opportunity local_compact_architecture GCH1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 113 compact_adjacent_exon_block_opportunity local_compact_architecture GCH1 human_phenotype_ontology_hp_0002141_human_phenotype_ontology_hp_0100683_medgen_c1836150 Gait imbalance Human_Phenotype_Ontology:HP:0002141,Human_Phenotype_Ontology:HP:0100683,MedGen:C1836150 1 1 1.0000 condition_record_support_limited 20 0 1 Gait_imbalance 113 compact_adjacent_exon_block_opportunity local_compact_architecture GCH1 human_phenotype_ontology_hp_0001288_human_phenotype_ontology_hp_0006953_medgen_c0575081 Gait disturbance Human_Phenotype_Ontology:HP:0001288,Human_Phenotype_Ontology:HP:0006953,MedGen:C0575081 1 1 1.0000 condition_record_support_limited 20 0 1 Gait_disturbance 113 compact_adjacent_exon_block_opportunity local_compact_architecture GCH1 human_phenotype_ontology_hp_0002066_human_phenotype_ontology_hp_0002379_medgen_c0751837 Gait ataxia Human_Phenotype_Ontology:HP:0002066,Human_Phenotype_Ontology:HP:0002379,MedGen:C0751837 1 1 1.0000 condition_record_support_limited 20 0 1 Gait_ataxia 113 compact_adjacent_exon_block_opportunity local_compact_architecture GCH1 gch1_related_disorder GCH1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GCH1-related_disorder 113 compact_adjacent_exon_block_opportunity local_compact_architecture GCH1 human_phenotype_ontology_hp_0011442_medgen_c4023354 Abnormal central motor function Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_central_motor_function 113 compact_adjacent_exon_block_opportunity local_compact_architecture GCDH mondo_mondo_0010162_medgen_c0268623_omim_276710_orphanet_69723 Tyrosinemia type III MONDO:MONDO:0010162,MedGen:C0268623,OMIM:276710,Orphanet:69723 1 1 1.0000 condition_record_support_limited 20 0 1 Tyrosinemia_type_III 324 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCDH mondo_mondo_0014378_medgen_c4014534_omim_615872_orphanet_244 Primary ciliary dyskinesia 29 MONDO:MONDO:0014378,MedGen:C4014534,OMIM:615872,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_ciliary_dyskinesia_29 324 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCDH mondo_mondo_0012125_medgen_c1837355_omim_608804_orphanet_280270_orphanet_280282 Hypomyelinating leukodystrophy 2 MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804,Orphanet:280270,Orphanet:280282 1 1 1.0000 condition_record_support_limited 20 0 1 Hypomyelinating_leukodystrophy_2 324 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCDH medgen_c3150805_omim_613566_orphanet_251380 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 MedGen:C3150805,OMIM:613566,Orphanet:251380 1 1 1.0000 condition_record_support_limited 20 0 1 FETAL_HEMOGLOBIN_QUANTITATIVE_TRAIT_LOCUS_6 324 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCDH mondo_mondo_0013355_medgen_c3150926_omim_613673_orphanet_293825 Congenital dyserythropoietic anemia type 4 MONDO:MONDO:0013355,MedGen:C3150926,OMIM:613673,Orphanet:293825 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_dyserythropoietic_anemia_type_4 324 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCDH medgen_c1292231_omim_111150 BLOOD GROUP--LUTHERAN INHIBITOR MedGen:C1292231,OMIM:111150 1 1 1.0000 condition_record_support_limited 20 0 1 BLOOD_GROUP--LUTHERAN_INHIBITOR 324 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GCDH human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 324 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBP1 human_phenotype_ontology_hp_0001932_human_phenotype_ontology_hp_0008264_medgen_c4021547 Neutrophil inclusion bodies Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547 1 1 1.0000 condition_record_support_limited 20 0 0 Neutrophil_inclusion_bodies 1 low_record_burden_interpretation_limited low_record_burden_gene GBF1 medgen_c3807151 Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities MedGen:C3807151 1 1 1.0000 condition_record_support_limited 20 0 1 Cataract_11,_posterior_polar,_with_microphthalmia_and_neurodevelopmental_abnormalities 13 low_record_burden_interpretation_limited low_record_burden_gene GBF1 medgen_c4310917 ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES MedGen:C4310917 1 1 1.0000 condition_record_support_limited 20 0 1 ANTERIOR_SEGMENT_DYSGENESIS_1,_MULTIPLE_SUBTYPES 13 low_record_burden_interpretation_limited low_record_burden_gene GBE1 mondo_mondo_0014086_medgen_c3808844_omim_615220_orphanet_666 Osteogenesis imperfecta type 15 MONDO:MONDO:0014086,MedGen:C3808844,OMIM:615220,Orphanet:666 1 1 1.0000 condition_record_support_limited 20 0 0 Osteogenesis_imperfecta_type_15 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBE1 human_phenotype_ontology_hp_0000726_human_phenotype_ontology_hp_0002274_human_phenotype_ontology_hp_0007122_human_phenotype_ontology_hp_0007150_human_phenotype_ontology_hp_0007283_mondo_mondo_0001627_medgen_c0497327 Dementia Human_Phenotype_Ontology:HP:0000726,Human_Phenotype_Ontology:HP:0002274,Human_Phenotype_Ontology:HP:0007122,Human_Phenotype_Ontology:HP:0007150,Human_Phenotype_Ontology:HP:0007283,MONDO:MONDO:0001627,MedGen:C0497327 1 1 1.0000 condition_record_support_limited 20 0 1 Dementia 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBE1 mondo_mondo_0013754_medgen_c3280798_omim_614437_orphanet_90349 Cutis laxa, autosomal recessive, type 1B MONDO:MONDO:0013754,MedGen:C3280798,OMIM:614437,Orphanet:90349 1 1 1.0000 condition_record_support_limited 20 0 0 Cutis_laxa,_autosomal_recessive,_type_1B 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBE1 autosomal_recessive_gbe1_related_disorders Autosomal recessive GBE1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_GBE1-related_disorders 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBE1 mondo_mondo_0015225_medgen_cn261653_orphanet_109007 Arthrogryposis syndrome MONDO:MONDO:0015225,MedGen:CN261653,Orphanet:109007 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis_syndrome 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA2 gba2_related_disorder GBA2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GBA2-related_disorder 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA2 mondo_mondo_0100451_medgen_cn305601 CEP290-related ciliopathy MONDO:MONDO:0100451,MedGen:CN305601 1 1 1.0000 condition_record_support_limited 20 0 1 CEP290-related_ciliopathy 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA1 mondo_mondo_0017279_medgen_c4275179_orphanet_2828 Young-onset Parkinson disease MONDO:MONDO:0017279,MedGen:C4275179,Orphanet:2828 1 1 1.0000 condition_record_support_limited 20 0 1 Young-onset_Parkinson_disease 360 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA1 human_phenotype_ontology_hp_0002063_medgen_c0026837 Rigidity Human_Phenotype_Ontology:HP:0002063,MedGen:C0026837 1 1 1.0000 condition_record_support_limited 20 0 1 Rigidity 360 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA1 mondo_mondo_0005180_mesh_d010300_medgen_c0030567_omim_ps168600 Parkinson disease MONDO:MONDO:0005180,MeSH:D010300,MedGen:C0030567,OMIM:PS168600 1 1 1.0000 condition_record_support_limited 20 0 1 Parkinson_disease 360 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA1 gba1_related_disorders GBA1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 GBA1-related_disorders 360 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA1 gba_related_disorder GBA-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GBA-related_disorder 360 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA1 medgen_c2676021 Dementia, Lewy body, susceptibility to MedGen:C2676021 1 1 1.0000 condition_record_support_limited 20 0 1 Dementia,_Lewy_body,_susceptibility_to 360 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA1 autosomal_recessive_gba1_related_disorders Autosomal recessive GBA1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_GBA1-related_disorders 360 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA1 autosomal_recessive_gba_related_disorders Autosomal recessive GBA-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_GBA-related_disorders 360 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GBA1 human_phenotype_ontology_hp_0002304_medgen_c0085623 Akinesia Human_Phenotype_Ontology:HP:0002304,MedGen:C0085623 1 1 1.0000 condition_record_support_limited 20 0 1 Akinesia 360 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATM mondo_mondo_0032829_medgen_c5231423_omim_618603 Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities MONDO:MONDO:0032829,MedGen:C5231423,OMIM:618603 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_hypotonia_and_variable_intellectual_and_behavioral_abnormalities 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATC mondo_mondo_0030008_medgen_c5394237_omim_618839 Combined oxidative phosphorylation deficiency 42 MONDO:MONDO:0030008,MedGen:C5394237,OMIM:618839 1 1 1.0000 condition_record_support_limited 20 0 1 Combined_oxidative_phosphorylation_deficiency_42 1 low_record_burden_interpretation_limited low_record_burden_gene GATC medgen_c3532239 Cardiomyopathy, mitochondrial MedGen:C3532239 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy,_mitochondrial 1 low_record_burden_interpretation_limited low_record_burden_gene GATAD2B gatad2b_related_intellectual_disability_syndrome GATAD2B-related intellectual disability syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 GATAD2B-related_intellectual_disability_syndrome 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATAD2A gatad2a_associated_neurodevelopmental_disorder GATAD2A-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 GATAD2A-associated_neurodevelopmental_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene GATAD1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATAD1 peroxisome_biogenesis_disorder_type_1a Peroxisome biogenesis disorder type 1A . 1 1 1.0000 condition_record_support_limited 20 0 1 Peroxisome_biogenesis_disorder_type_1A 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATAD1 mondo_mondo_0100259_medgen_cn305475 Peroxisome biogenesis disorder due to PEX1 defect MONDO:MONDO:0100259,MedGen:CN305475 1 1 1.0000 condition_record_support_limited 20 0 1 Peroxisome_biogenesis_disorder_due_to_PEX1_defect 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATAD1 mondo_mondo_0013848_medgen_c3553409_omim_614672_orphanet_154 Dilated cardiomyopathy 2B MONDO:MONDO:0013848,MedGen:C3553409,OMIM:614672,Orphanet:154 1 1 1.0000 condition_record_support_limited 20 0 0 Dilated_cardiomyopathy_2B 122 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA6 efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_dilated_cardiomyopathy 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA6 mondo_mondo_0032899_medgen_c5203411_omim_618752_orphanet_675767 Neutropenia, severe congenital, 8, autosomal dominant MONDO:MONDO:0032899,MedGen:C5203411,OMIM:618752,Orphanet:675767 1 1 1.0000 condition_record_support_limited 20 0 1 Neutropenia,_severe_congenital,_8,_autosomal_dominant 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA6 mondo_mondo_0015446_medgen_c3496579_orphanet_1456 Atypical coarctation of aorta MONDO:MONDO:0015446,MedGen:C3496579,Orphanet:1456 1 1 1.0000 condition_record_support_limited 20 0 0 Atypical_coarctation_of_aorta 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA4 human_phenotype_ontology_hp_0001669_mondo_mondo_0000153_medgen_c0040761_orphanet_216675 Transposition of the great arteries Human_Phenotype_Ontology:HP:0001669,MONDO:MONDO:0000153,MedGen:C0040761,Orphanet:216675 1 1 1.0000 condition_record_support_limited 20 0 1 Transposition_of_the_great_arteries 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA4 human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 1.0000 condition_record_support_limited 20 0 0 Heart,_malformation_of 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA4 gata4_related_disorder GATA4-related disorder MedGen:CN860321 1 1 1.0000 condition_record_support_limited 20 0 1 GATA4-related_disorder 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA4 gata4_related_dilated_cardiomyopathy GATA4-related dilated cardiomyopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 GATA4-related_dilated_cardiomyopathy 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA4 mondo_mondo_0013066_medgen_c3489793_omim_612965 46,XY sex reversal 3 MONDO:MONDO:0013066,MedGen:C3489793,OMIM:612965 1 1 1.0000 condition_record_support_limited 20 0 0 46,XY_sex_reversal_3 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA3 human_phenotype_ontology_hp_0000101_human_phenotype_ontology_hp_0003774_human_phenotype_ontology_hp_0004720_human_phenotype_ontology_hp_0004725_human_phenotype_ontology_hp_0004733_human_phenotype_ontology_hp_0004738_human_phenotype_ontology_hp_0005570_mondo_mondo_0004375_medgen_c2316810 Stage 5 chronic kidney disease Human_Phenotype_Ontology:HP:0000101,Human_Phenotype_Ontology:HP:0003774,Human_Phenotype_Ontology:HP:0004720,Human_Phenotype_Ontology:HP:0004725,Human_Phenotype_Ontology:HP:0004733,Human_Phenotype_Ontology:HP:0004738,Human_Phenotype_Ontology:HP:0005570,MONDO:MONDO:0004375,MedGen:C2316810 1 1 1.0000 condition_record_support_limited 20 0 1 Stage_5_chronic_kidney_disease 109 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA3 monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 109 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA3 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 0 Hearing_impairment 109 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA3 deafness_autosomal_dominant Deafness, autosomal dominant . 1 1 1.0000 condition_record_support_limited 20 0 0 Deafness,_autosomal_dominant 109 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA3 mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_anomaly_of_kidney_and_urinary_tract 109 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA2 multilineage_dysplasia multilineage dysplasia . 1 1 1.0000 condition_record_support_limited 20 0 0 multilineage_dysplasia 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA2 mondo_mondo_0009934_medgen_c2960310_omim_265380_orphanet_210122 Alveolar capillary dysplasia with pulmonary venous misalignment MONDO:MONDO:0009934,MedGen:C2960310,OMIM:265380,Orphanet:210122 1 1 1.0000 condition_record_support_limited 20 0 0 Alveolar_capillary_dysplasia_with_pulmonary_venous_misalignment 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA1 x_linked_gata1_related_disorders X-linked GATA1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 X-linked_GATA1-related_disorders 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA1 medgen_c1860789 LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME, SOMATIC MedGen:C1860789 1 1 1.0000 condition_record_support_limited 20 0 0 LEUKEMIA,_MEGAKARYOBLASTIC,_OF_DOWN_SYNDROME,_SOMATIC 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA1 mondo_mondo_0009902_medgen_c5886774_omim_263700_orphanet_79277 Cutaneous porphyria MONDO:MONDO:0009902,MedGen:C5886774,OMIM:263700,Orphanet:79277 1 1 1.0000 condition_record_support_limited 20 0 1 Cutaneous_porphyria 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA1 human_phenotype_ontology_hp_0001903_human_phenotype_ontology_hp_0001926_human_phenotype_ontology_hp_0003136_human_phenotype_ontology_hp_0005509_mondo_mondo_0002280_medgen_c0002871 Anemia Human_Phenotype_Ontology:HP:0001903,Human_Phenotype_Ontology:HP:0001926,Human_Phenotype_Ontology:HP:0003136,Human_Phenotype_Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871 1 1 1.0000 condition_record_support_limited 20 0 1 Anemia 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GATA1 human_phenotype_ontology_hp_0006733_mondo_mondo_0018872_mesh_d007947_medgen_c0023462_orphanet_518 Acute megakaryoblastic leukemia Human_Phenotype_Ontology:HP:0006733,MONDO:MONDO:0018872,MeSH:D007947,MedGen:C0023462,Orphanet:518 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_megakaryoblastic_leukemia 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAS2L2 mondo_mondo_0012085_medgen_c1837618_omim_608644_orphanet_244 Primary ciliary dyskinesia 3 MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_ciliary_dyskinesia_3 1 low_record_burden_interpretation_limited low_record_burden_gene GART human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 2 low_record_burden_interpretation_limited low_record_burden_gene GART human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Esophageal atresia/tracheoesophageal fistula Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 1.0000 condition_record_support_limited 20 0 0 Esophageal_atresia/tracheoesophageal_fistula 2 low_record_burden_interpretation_limited low_record_burden_gene GARS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GARS1 gars_associated_growth_retardation_and_developmental_delay GARS-associated growth retardation and developmental delay . 1 1 1.0000 condition_record_support_limited 20 0 0 GARS-associated_growth_retardation_and_developmental_delay 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GARNL3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene GARIN5A emc10_related_disorder EMC10-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 EMC10-related_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene GAREM2 mondo_mondo_0005066_medgen_c0025517 Metabolic disease MONDO:MONDO:0005066,MedGen:C0025517 1 1 1.0000 condition_record_support_limited 20 0 1 Metabolic_disease 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAREM2 medgen_c1833202 LCHAD deficiency with maternal acute fatty liver of pregnancy MedGen:C1833202 1 1 1.0000 condition_record_support_limited 20 0 1 LCHAD_deficiency_with_maternal_acute_fatty_liver_of_pregnancy 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAREM2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 129 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAPDH mondo_mondo_0054804_medgen_c4693831_omim_617983 Microcephaly 21, primary, autosomal recessive MONDO:MONDO:0054804,MedGen:C4693831,OMIM:617983 1 1 1.0000 condition_record_support_limited 20 0 0 Microcephaly_21,_primary,_autosomal_recessive 1 low_record_burden_interpretation_limited low_record_burden_gene GANAB polycystic_kidney_disease_3_without_polycystic_liver_disease POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE . 1 1 1.0000 condition_record_support_limited 20 0 0 POLYCYSTIC_KIDNEY_DISEASE_3_WITHOUT_POLYCYSTIC_LIVER_DISEASE 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GANAB mondo_mondo_0004691_medgen_c0085413_orphanet_730 Autosomal dominant polycystic kidney disease MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_polycystic_kidney_disease 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAN human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAN human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 0 Hypotonia 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAMT mondo_mondo_0008199_medgen_c3160718_omim_168600_orphanet_411602 Parkinson disease, late-onset MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600,Orphanet:411602 1 1 1.0000 condition_record_support_limited 20 0 0 Parkinson_disease,_late-onset 145 compact_adjacent_exon_block_opportunity local_compact_architecture GAMT human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 145 compact_adjacent_exon_block_opportunity local_compact_architecture GAMT human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 145 compact_adjacent_exon_block_opportunity local_compact_architecture GALR2 mondo_mondo_0957809_medgen_c5882756_omim_620534 Neutropenia, severe congenital, 10, autosomal recessive MONDO:MONDO:0957809,MedGen:C5882756,OMIM:620534 1 1 1.0000 condition_record_support_limited 20 0 0 Neutropenia,_severe_congenital,_10,_autosomal_recessive 1 low_record_burden_interpretation_limited low_record_burden_gene GALNTL5 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility 1 low_record_burden_interpretation_limited low_record_burden_gene GALNT4 mondo_mondo_0957430_medgen_c0036346_orphanet_641496 Childhood-onset schizophrenia MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 1.0000 condition_record_support_limited 20 0 0 Childhood-onset_schizophrenia 1 low_record_burden_interpretation_limited low_record_burden_gene GALNT14 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene GALNT14 human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 1.0000 condition_record_support_limited 20 0 1 Non-immune_hydrops_fetalis 1 low_record_burden_interpretation_limited low_record_burden_gene GALNS human_phenotype_ontology_hp_0000924_medgen_c4021790 Abnormality of the skeletal system Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_skeletal_system 299 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALK1 mondo_mondo_0017612_medgen_c0079301_omim_ps226650_orphanet_305 Junctional epidermolysis bullosa MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305 1 1 1.0000 condition_record_support_limited 20 0 1 Junctional_epidermolysis_bullosa 160 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALE mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALE medgen_c4017048 Galactosemia III, severe MedGen:C4017048 1 1 1.0000 condition_record_support_limited 20 0 1 Galactosemia_III,_severe 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALE gale_related_disorder GALE-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GALE-related_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC medgen_c1135954 Incidental Discovery MedGen:C1135954 1 1 1.0000 condition_record_support_limited 20 0 1 Incidental_Discovery 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC human_phenotype_ontology_hp_0001071_mondo_mondo_0010526_medgen_c0002986_omim_301500_orphanet_324 Fabry disease Human_Phenotype_Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324 1 1 1.0000 condition_record_support_limited 20 0 1 Fabry_disease 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GALC human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 365 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAL3ST2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene GAL mondo_mondo_0014650_medgen_c4225318_omim_616461_orphanet_101046 Familial temporal lobe epilepsy 8 MONDO:MONDO:0014650,MedGen:C4225318,OMIM:616461,Orphanet:101046 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_temporal_lobe_epilepsy_8 1 low_record_burden_interpretation_limited low_record_burden_gene GABRG3 mondo_mondo_0007113_medgen_c0162635_omim_105830_orphanet_72 Angelman syndrome MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:72 1 1 1.0000 condition_record_support_limited 20 0 0 Angelman_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene GABRG2 mondo_mondo_1010117_medgen_c3827273 Sudden unexplained death in childhood MONDO:MONDO:1010117,MedGen:C3827273 1 1 1.0000 condition_record_support_limited 20 0 0 Sudden_unexplained_death_in_childhood 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRG2 mondo_mondo_0016532_medgen_c0238111_orphanet_2382 Lennox-Gastaut syndrome MONDO:MONDO:0016532,MedGen:C0238111,Orphanet:2382 1 1 1.0000 condition_record_support_limited 20 0 1 Lennox-Gastaut_syndrome 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRG2 mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRE human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene GABRD condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene GABRD mondo_mondo_0005579_medgen_c0270850_omim_600669_omim_ps600669 Idiopathic generalized epilepsy MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669 1 1 1.0000 condition_record_support_limited 20 0 0 Idiopathic_generalized_epilepsy 4 low_record_burden_interpretation_limited low_record_burden_gene GABRD gabrd_related_disorders GABRD-Related Disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 GABRD-Related_Disorders 4 low_record_burden_interpretation_limited low_record_burden_gene GABRB3 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRB3 mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRB2 cerebral_visual_impairment_and_intellectual_disability Cerebral visual impairment and intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_visual_impairment_and_intellectual_disability 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRB1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene GABRA3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 4 low_record_burden_interpretation_limited low_record_burden_gene GABRA2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRA2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRA2 gabra2_related_disorder GABRA2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 GABRA2-related_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRA2 human_phenotype_ontology_hp_0030955_mondo_mondo_0007079_medgen_c0001973_omim_103780 Alcohol dependence Human_Phenotype_Ontology:HP:0030955,MONDO:MONDO:0007079,MedGen:C0001973,OMIM:103780 1 1 1.0000 condition_record_support_limited 20 0 1 Alcohol_dependence 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRA1 medgen_c2674422 Intractable seizure MedGen:C2674422 1 1 1.0000 condition_record_support_limited 20 0 1 Intractable_seizure 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABRA1 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 0 Epileptic_encephalopathy 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GABBR2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 15 low_record_burden_interpretation_limited low_record_burden_gene GABBR2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 15 low_record_burden_interpretation_limited low_record_burden_gene GABBR2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 15 low_record_burden_interpretation_limited low_record_burden_gene GABBR1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene GABBR1 mondo_mondo_0018975_medgen_c0027831_omim_162200_orphanet_636 Neurofibromatosis, type 1 MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200,Orphanet:636 1 1 1.0000 condition_record_support_limited 20 0 0 Neurofibromatosis,_type_1 7 low_record_burden_interpretation_limited low_record_burden_gene GABBR1 human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Motor delay Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 1.0000 condition_record_support_limited 20 0 1 Motor_delay 7 low_record_burden_interpretation_limited low_record_burden_gene GABBR1 gabbr1_related_neurodevelopmental_disorder GABBR1-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GABBR1-related_neurodevelopmental_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene GABBR1 human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Atypical behavior Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 1 1 1.0000 condition_record_support_limited 20 0 1 Atypical_behavior 7 low_record_burden_interpretation_limited low_record_burden_gene GAB1 mondo_mondo_0011553_medgen_c1854275_omim_605428_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 26 MONDO:MONDO:0011553,MedGen:C1854275,OMIM:605428,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_nonsyndromic_hearing_loss_26 1 low_record_burden_interpretation_limited low_record_burden_gene GAA medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 739 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAA human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 1.0000 condition_record_support_limited 20 0 1 Myopathy 739 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 739 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAA mondo_mondo_0009296_medgen_c1856275_omim_232900 Glycoprotein storage disease MONDO:MONDO:0009296,MedGen:C1856275,OMIM:232900 1 1 1.0000 condition_record_support_limited 20 0 1 Glycoprotein_storage_disease 739 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAA mondo_mondo_0009292_medgen_c0017923_omim_232500_orphanet_367 Glycogen storage disease, type IV MONDO:MONDO:0009292,MedGen:C0017923,OMIM:232500,Orphanet:367 1 1 1.0000 condition_record_support_limited 20 0 1 Glycogen_storage_disease,_type_IV 739 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAA mondo_mondo_0009287_medgen_c2919796_omim_232200_orphanet_364_orphanet_79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type IA MONDO:MONDO:0009287,MedGen:C2919796,OMIM:232200,Orphanet:364,Orphanet:79258 1 1 1.0000 condition_record_support_limited 20 0 1 Glycogen_storage_disease_due_to_glucose-6-phosphatase_deficiency_type_IA 739 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAA human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Elevated circulating creatine kinase concentration Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 1 1 1.0000 condition_record_support_limited 20 0 1 Elevated_circulating_creatine_kinase_concentration 739 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture GAA human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 739 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 1 Hypercholesterolemia,_familial,_1 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD hemolytic_anemia_g6pd_deficient_favism Hemolytic anemia, G6PD deficient (favism) . 1 1 1.0000 condition_record_support_limited 20 0 1 Hemolytic_anemia,_G6PD_deficient_(favism) 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD mondo_mondo_0010600_medgen_c1844376_omim_306400_orphanet_379 Granulomatous disease, chronic, X-linked MONDO:MONDO:0010600,MedGen:C1844376,OMIM:306400,Orphanet:379 1 1 1.0000 condition_record_support_limited 20 0 1 Granulomatous_disease,_chronic,_X-linked 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_zurich G6PD ZURICH . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_ZURICH 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_walter_reed G6PD WALTER REED . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_WALTER_REED 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_viangchan G6PD VIANGCHAN . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_VIANGCHAN 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_varnsdorf G6PD VARNSDORF . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_VARNSDORF 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_tomah G6PD TOMAH . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_TOMAH 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_taiwan_hakka_2 G6PD TAIWAN-HAKKA 2 . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_TAIWAN-HAKKA_2 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_taiwan_hakka G6PD TAIWAN-HAKKA . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_TAIWAN-HAKKA 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_springfield G6PD SPRINGFIELD . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_SPRINGFIELD 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_serres G6PD SERRES . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_SERRES 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_seattle_like G6PD SEATTLE-LIKE . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_SEATTLE-LIKE 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_sassari G6PD SASSARI . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_SASSARI 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_sapporo_like G6PD SAPPORO-LIKE . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_SAPPORO-LIKE 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_santiago_de_cuba G6PD SANTIAGO DE CUBA . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_SANTIAGO_DE_CUBA 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_santiago G6PD SANTIAGO . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_SANTIAGO 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_riverside G6PD RIVERSIDE . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_RIVERSIDE 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_rehovot G6PD REHOVOT . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_REHOVOT 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_quing_yuan G6PD QUING YUAN . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_QUING_YUAN 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_puerto_limon G6PD PUERTO LIMON . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_PUERTO_LIMON 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_portici G6PD PORTICI . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_PORTICI 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_petrich_like G6PD PETRICH-LIKE . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_PETRICH-LIKE 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_orissa G6PD ORISSA . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_ORISSA 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_nilgiri G6PD NILGIRI . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_NILGIRI 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_neapolis G6PD NEAPOLIS . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_NEAPOLIS 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_nashville G6PD NASHVILLE . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_NASHVILLE 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_nankang G6PD NANKANG . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_NANKANG 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_namoru G6PD NAMORU . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_NAMORU 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_modena G6PD MODENA . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_MODENA 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_minnesota G6PD MINNESOTA . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_MINNESOTA 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_mediterranean G6PD MEDITERRANEAN . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_MEDITERRANEAN 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_marion G6PD MARION . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_MARION 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_malaga G6PD MALAGA . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_MALAGA 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_mahidol G6PD MAHIDOL . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_MAHIDOL 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_loma_linda G6PD LOMA LINDA . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_LOMA_LINDA 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_kerala_kalyan G6PD KERALA-KALYAN . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_KERALA-KALYAN 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_kerala G6PD KERALA . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_KERALA 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_kalyan G6PD KALYAN . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_KALYAN 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_kaiping G6PD KAIPING . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_KAIPING 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_japan G6PD JAPAN . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_JAPAN 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_jammu G6PD JAMMU . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_JAMMU 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_iowa_city G6PD IOWA CITY . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_IOWA_CITY 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_iowa G6PD IOWA . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_IOWA 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_ierapetra G6PD IERAPETRA . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_IERAPETRA 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_harilaou G6PD HARILAOU . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_HARILAOU 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_guadalajara G6PD GUADALAJARA . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_GUADALAJARA 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_gifu G6PD GIFU . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_GIFU 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_gastonia G6PD GASTONIA . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_GASTONIA 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_gaohe G6PD GAOHE . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_GAOHE 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_dhon G6PD DHON . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_DHON 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_cosenza G6PD COSENZA . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_COSENZA 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_coimbra G6PD COIMBRA . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_COIMBRA 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_chatham G6PD CHATHAM . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_CHATHAM 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_canton G6PD CANTON . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_CANTON 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_cagliari G6PD CAGLIARI . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_CAGLIARI 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_beverly_hills G6PD BEVERLY HILLS . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_BEVERLY_HILLS 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_aveiro G6PD AVEIRO . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_AVEIRO 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_aures G6PD AURES . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_AURES 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_asahi G6PD ASAHI . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_ASAHI 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_andalus G6PD ANDALUS . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_ANDALUS 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_anant G6PD ANANT . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_ANANT 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_anaheim G6PD ANAHEIM . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_ANAHEIM 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_alhambra G6PD ALHAMBRA . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_ALHAMBRA 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD g6pd_agrigento G6PD AGRIGENTO . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PD_AGRIGENTO 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD human_phenotype_ontology_hp_0004804_human_phenotype_ontology_hp_0004811_human_phenotype_ontology_hp_0004824_mondo_mondo_0003689_medgen_c0002881 Familial hemolytic anemia Human_Phenotype_Ontology:HP:0004804,Human_Phenotype_Ontology:HP:0004811,Human_Phenotype_Ontology:HP:0004824,MONDO:MONDO:0003689,MedGen:C0002881 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_hemolytic_anemia 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD medgen_c4229399 Early-onset coronary artery disease MedGen:C4229399 1 1 1.0000 condition_record_support_limited 20 0 1 Early-onset_coronary_artery_disease 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PD mondo_mondo_0006506_medgen_c0002882_omim_ps300908 Congenital nonspherocytic hemolytic anemia MONDO:MONDO:0006506,MedGen:C0002882,OMIM:PS300908 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_nonspherocytic_hemolytic_anemia 231 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PC3 mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_Immunodeficiency_Diseases 52 compact_adjacent_exon_block_opportunity local_compact_architecture G6PC3 g6pc3_related_disorder G6PC3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 G6PC3-related_disorder 52 compact_adjacent_exon_block_opportunity local_compact_architecture G6PC1 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PC1 human_phenotype_ontology_hp_0006568_medgen_c1856285 Increased hepatic glycogen content Human_Phenotype_Ontology:HP:0006568,MedGen:C1856285 1 1 1.0000 condition_record_support_limited 20 0 0 Increased_hepatic_glycogen_content 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G6PC1 human_phenotype_ontology_hp_0001943_human_phenotype_ontology_hp_0003356_mondo_mondo_0004946_medgen_c0020615 Hypoglycemia Human_Phenotype_Ontology:HP:0001943,Human_Phenotype_Ontology:HP:0003356,MONDO:MONDO:0004946,MedGen:C0020615 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoglycemia 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture G3BP1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene FZR1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene FZR1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 5 low_record_burden_interpretation_limited low_record_burden_gene FZD6 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene FZD6 human_phenotype_ontology_hp_0000115_human_phenotype_ontology_hp_0002667_mondo_mondo_0006058_mesh_d009396_medgen_c0027708_orphanet_654 Nephroblastoma Human_Phenotype_Ontology:HP:0000115,Human_Phenotype_Ontology:HP:0002667,MONDO:MONDO:0006058,MeSH:D009396,MedGen:C0027708,Orphanet:654 1 1 1.0000 condition_record_support_limited 20 0 1 Nephroblastoma 7 low_record_burden_interpretation_limited low_record_burden_gene FZD4 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_disorder 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FZD4 fzd4_related_disorder FZD4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FZD4-related_disorder 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FZD4 medgen_c1858262 Exudative vitreoretinopathy, digenic MedGen:C1858262 1 1 1.0000 condition_record_support_limited 20 0 1 Exudative_vitreoretinopathy,_digenic 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FZD4 human_phenotype_ontology_hp_6000262_mondo_mondo_0010691_medgen_c0266526_omim_310600_orphanet_649 Atrophia bulborum hereditaria Human_Phenotype_Ontology:HP:6000262,MONDO:MONDO:0010691,MedGen:C0266526,OMIM:310600,Orphanet:649 1 1 1.0000 condition_record_support_limited 20 0 1 Atrophia_bulborum_hereditaria 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FZD3 human_phenotype_ontology_hp_0000003_human_phenotype_ontology_hp_0004715_mondo_mondo_0015988_medgen_c3714581_orphanet_1851 Multicystic kidney dysplasia Human_Phenotype_Ontology:HP:0000003,Human_Phenotype_Ontology:HP:0004715,MONDO:MONDO:0015988,MedGen:C3714581,Orphanet:1851 1 1 1.0000 condition_record_support_limited 20 0 1 Multicystic_kidney_dysplasia 2 low_record_burden_interpretation_limited low_record_burden_gene FZD3 human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Hydrocephalus Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 1.0000 condition_record_support_limited 20 0 1 Hydrocephalus 2 low_record_burden_interpretation_limited low_record_burden_gene FZD3 human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Corpus callosum, agenesis of Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 1.0000 condition_record_support_limited 20 0 1 Corpus_callosum,_agenesis_of 2 low_record_burden_interpretation_limited low_record_burden_gene FZD3 mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cerebellar_hypoplasia 2 low_record_burden_interpretation_limited low_record_burden_gene FZD3 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 2 low_record_burden_interpretation_limited low_record_burden_gene FZD3 human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis_multiplex_congenita 2 low_record_burden_interpretation_limited low_record_burden_gene FZD2 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 9 low_record_burden_interpretation_limited low_record_burden_gene FZD2 mondo_mondo_0014819_medgen_c4225164_omim_616894_orphanet_3107_orphanet_97360 Autosomal dominant Robinow syndrome 3 MONDO:MONDO:0014819,MedGen:C4225164,OMIM:616894,Orphanet:3107,Orphanet:97360 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_Robinow_syndrome_3 9 low_record_burden_interpretation_limited low_record_burden_gene FYCO1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FYCO1 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_eye 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FXYD2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene FXYD2 mondo_mondo_0007937_medgen_c1835171_omim_154020_orphanet_34528 Renal hypomagnesemia 2 MONDO:MONDO:0007937,MedGen:C1835171,OMIM:154020,Orphanet:34528 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_hypomagnesemia_2 1 low_record_burden_interpretation_limited low_record_burden_gene FXR1 mondo_mondo_0032936_medgen_c5394189_omim_618822 Myopathy, congenital, with respiratory insufficiency and bone fractures MONDO:MONDO:0032936,MedGen:C5394189,OMIM:618822 1 1 1.0000 condition_record_support_limited 20 0 0 Myopathy,_congenital,_with_respiratory_insufficiency_and_bone_fractures 4 low_record_burden_interpretation_limited low_record_burden_gene FXR1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 4 low_record_burden_interpretation_limited low_record_burden_gene FXN mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FUZ mondo_mondo_0009894_medgen_c0024507_omim_263520 Short-rib thoracic dysplasia 6 with or without polydactyly MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520 1 1 1.0000 condition_record_support_limited 20 0 0 Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly 1 low_record_burden_interpretation_limited low_record_burden_gene FUT8 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene FUT8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 7 low_record_burden_interpretation_limited low_record_burden_gene FUT8 fut8_related_disorder FUT8-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 FUT8-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene FUT1 fut1_related_disorder FUT1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 FUT1-related_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene FUT1 medgen_c4749062 BOMBAY PHENOTYPE, DIGENIC MedGen:C4749062 1 1 1.0000 condition_record_support_limited 20 0 1 BOMBAY_PHENOTYPE,_DIGENIC 6 low_record_burden_interpretation_limited low_record_burden_gene FUS mondo_mondo_0014426_medgen_c4014848_omim_615972_orphanet_35612 Nanophthalmos 4 MONDO:MONDO:0014426,MedGen:C4014848,OMIM:615972,Orphanet:35612 1 1 1.0000 condition_record_support_limited 20 0 0 Nanophthalmos_4 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FUS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FUS medgen_c2750729 Amyotrophic lateral sclerosis 6, autosomal recessive MedGen:C2750729 1 1 1.0000 condition_record_support_limited 20 0 0 Amyotrophic_lateral_sclerosis_6,_autosomal_recessive 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FUNDC2 mondo_mondo_0010602_medgen_c0019069_omim_306700_orphanet_98878 Hereditary factor VIII deficiency disease MONDO:MONDO:0010602,MedGen:C0019069,OMIM:306700,Orphanet:98878 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_factor_VIII_deficiency_disease 1 low_record_burden_interpretation_limited low_record_burden_gene FUCA1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 87 compact_adjacent_exon_block_opportunity local_compact_architecture FUCA1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 87 compact_adjacent_exon_block_opportunity local_compact_architecture FUCA1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 87 compact_adjacent_exon_block_opportunity local_compact_architecture FTSJ1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 15 low_record_burden_interpretation_limited low_record_burden_gene FTO condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene FTO medgen_c2675914_omim_612460 Body mass index quantitative trait locus 14 MedGen:C2675914,OMIM:612460 1 1 1.0000 condition_record_support_limited 20 0 0 Body_mass_index_quantitative_trait_locus_14 3 low_record_burden_interpretation_limited low_record_burden_gene FTL medgen_c4016051 L-FERRITIN DEFICIENCY, AUTOSOMAL RECESSIVE MedGen:C4016051 1 1 1.0000 condition_record_support_limited 20 0 1 L-FERRITIN_DEFICIENCY,_AUTOSOMAL_RECESSIVE 31 compact_adjacent_exon_block_opportunity local_compact_architecture FTL mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 31 compact_adjacent_exon_block_opportunity local_compact_architecture FTH1 mondo_mondo_0013175_medgen_c2750789_omim_613194_orphanet_791 Retinitis pigmentosa 50 MONDO:MONDO:0013175,MedGen:C2750789,OMIM:613194,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa_50 11 low_record_burden_interpretation_limited low_record_burden_gene FTH1 medgen_c1135954 Incidental Discovery MedGen:C1135954 1 1 1.0000 condition_record_support_limited 20 0 1 Incidental_Discovery 11 low_record_burden_interpretation_limited low_record_burden_gene FTH1 mondo_mondo_0014225_medgen_c1851316_omim_615517_orphanet_247790 Hemochromatosis type 5 MONDO:MONDO:0014225,MedGen:C1851316,OMIM:615517,Orphanet:247790 1 1 1.0000 condition_record_support_limited 20 0 0 Hemochromatosis_type_5 11 low_record_burden_interpretation_limited low_record_burden_gene FTH1 best1_related_disorder BEST1-related disorder MedGen:CN239200 1 1 1.0000 condition_record_support_limited 20 0 1 BEST1-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene FSIP2 human_phenotype_ontology_hp_0012207_medgen_c4082176 Reduced sperm motility Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_sperm_motility 21 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FSIP2 mondo_mondo_0001913_mesh_d009845_medgen_c0028960 Oligospermia MONDO:MONDO:0001913,MeSH:D009845,MedGen:C0028960 1 1 1.0000 condition_record_support_limited 20 0 1 Oligospermia 21 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FSIP2 human_phenotype_ontology_hp_0012864_medgen_c0403824 Abnormal sperm morphology Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_sperm_morphology 21 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FSHR mondo_mondo_0010209_medgen_c0268118_omim_278300_orphanet_3467_orphanet_93601 Hereditary xanthinuria type 1 MONDO:MONDO:0010209,MedGen:C0268118,OMIM:278300,Orphanet:3467,Orphanet:93601 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_xanthinuria_type_1 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FSHR human_phenotype_ontology_hp_0000141_mondo_mondo_0001836_medgen_c0002453 Amenorrhea Human_Phenotype_Ontology:HP:0000141,MONDO:MONDO:0001836,MedGen:C0002453 1 1 1.0000 condition_record_support_limited 20 0 0 Amenorrhea 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FSHB condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene FSD1L mondo_mondo_0009360_medgen_c3887608_omim_236600_orphanet_2185 Hydrocephalus, nonsyndromic, autosomal recessive 1 MONDO:MONDO:0009360,MedGen:C3887608,OMIM:236600,Orphanet:2185 1 1 1.0000 condition_record_support_limited 20 0 0 Hydrocephalus,_nonsyndromic,_autosomal_recessive_1 1 low_record_burden_interpretation_limited low_record_burden_gene FRYL fryl_related_disorder FRYL-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 FRYL-related_disorder 23 large_gene_or_donor_burden_stress_case donor_burden_stress FRYL fryl_related_developmental_disorder FRYL-related developmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 FRYL-related_developmental_disorder 23 large_gene_or_donor_burden_stress_case donor_burden_stress FRRS1L mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 39 compact_adjacent_exon_block_opportunity local_compact_architecture FRMPD4 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FRMD7 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FRMD7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FRMD7 frmd7_related_disorder FRMD7-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 FRMD7-related_disorder 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FRG1 human_phenotype_ontology_hp_0004935_medgen_c0265908 Pulmonary artery atresia Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908 1 1 1.0000 condition_record_support_limited 20 0 0 Pulmonary_artery_atresia 1 low_record_burden_interpretation_limited low_record_burden_gene FREM2 human_phenotype_ontology_hp_0000122_mondo_mondo_0019636_medgen_c0266294_orphanet_93100 Unilateral renal agenesis Human_Phenotype_Ontology:HP:0000122,MONDO:MONDO:0019636,MedGen:C0266294,Orphanet:93100 1 1 1.0000 condition_record_support_limited 20 0 1 Unilateral_renal_agenesis 129 compact_adjacent_exon_block_opportunity local_compact_architecture FREM2 human_phenotype_ontology_hp_0001770_human_phenotype_ontology_hp_0001828_human_phenotype_ontology_hp_0005677_medgen_c0265660 Toe syndactyly Human_Phenotype_Ontology:HP:0001770,Human_Phenotype_Ontology:HP:0001828,Human_Phenotype_Ontology:HP:0005677,MedGen:C0265660 1 1 1.0000 condition_record_support_limited 20 0 1 Toe_syndactyly 129 compact_adjacent_exon_block_opportunity local_compact_architecture FREM2 human_phenotype_ontology_hp_0004744_human_phenotype_ontology_hp_0008678_human_phenotype_ontology_hp_0008701_medgen_c1857453 Renal hypoplasia/aplasia Human_Phenotype_Ontology:HP:0004744,Human_Phenotype_Ontology:HP:0008678,Human_Phenotype_Ontology:HP:0008701,MedGen:C1857453 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_hypoplasia/aplasia 129 compact_adjacent_exon_block_opportunity local_compact_architecture FREM2 human_phenotype_ontology_hp_0006057_human_phenotype_ontology_hp_0006101_medgen_c0221352 Finger syndactyly Human_Phenotype_Ontology:HP:0006057,Human_Phenotype_Ontology:HP:0006101,MedGen:C0221352 1 1 1.0000 condition_record_support_limited 20 0 1 Finger_syndactyly 129 compact_adjacent_exon_block_opportunity local_compact_architecture FREM2 human_phenotype_ontology_hp_0011252_medgen_c2315717 Cryptotia Human_Phenotype_Ontology:HP:0011252,MedGen:C2315717 1 1 1.0000 condition_record_support_limited 20 0 1 Cryptotia 129 compact_adjacent_exon_block_opportunity local_compact_architecture FREM2 human_phenotype_ontology_hp_0001126_human_phenotype_ontology_hp_0008032_mondo_mondo_0020153_medgen_c0311249_orphanet_98562 Cryptophthalmia Human_Phenotype_Ontology:HP:0001126,Human_Phenotype_Ontology:HP:0008032,MONDO:MONDO:0020153,MedGen:C0311249,Orphanet:98562 1 1 1.0000 condition_record_support_limited 20 0 1 Cryptophthalmia 129 compact_adjacent_exon_block_opportunity local_compact_architecture FREM2 human_phenotype_ontology_hp_0000776_human_phenotype_ontology_hp_0006604_mondo_mondo_0005711_mesh_d065630_medgen_c0235833_orphanet_2140 Congenital diaphragmatic hernia Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,Orphanet:2140 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_diaphragmatic_hernia 129 compact_adjacent_exon_block_opportunity local_compact_architecture FREM2 mondo_mondo_0957430_medgen_c0036346_orphanet_641496 Childhood-onset schizophrenia MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 1.0000 condition_record_support_limited 20 0 0 Childhood-onset_schizophrenia 129 compact_adjacent_exon_block_opportunity local_compact_architecture FREM2 human_phenotype_ontology_hp_0000062_human_phenotype_ontology_hp_0008685_human_phenotype_ontology_hp_0008693_medgen_c0266362 Ambiguous genitalia Human_Phenotype_Ontology:HP:0000062,Human_Phenotype_Ontology:HP:0008685,Human_Phenotype_Ontology:HP:0008693,MedGen:C0266362 1 1 1.0000 condition_record_support_limited 20 0 1 Ambiguous_genitalia 129 compact_adjacent_exon_block_opportunity local_compact_architecture FREM2 human_phenotype_ontology_hp_0004378_medgen_c4025329 Abnormality of the anus Human_Phenotype_Ontology:HP:0004378,MedGen:C4025329 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_anus 129 compact_adjacent_exon_block_opportunity local_compact_architecture FREM1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 71 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FRAS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 315 large_gene_or_donor_burden_stress_case donor_burden_stress FOXRED1 human_phenotype_ontology_hp_0006789_medgen_c1852373 Mitochondrial encephalopathy Human_Phenotype_Ontology:HP:0006789,MedGen:C1852373 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_encephalopathy 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXRED1 mondo_mondo_0100224_medgen_cn257533_omim_252010 Mitochondrial complex I deficiency, nuclear type 1 MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency,_nuclear_type_1 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXRED1 mondo_mondo_0100133_mesh_c537475_medgen_c1838979_orphanet_2609 Mitochondrial complex I deficiency MONDO:MONDO:0100133,MeSH:C537475,MedGen:C1838979,Orphanet:2609 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXRED1 foxred1_related_disorder FOXRED1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FOXRED1-related_disorder 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP4 human_phenotype_ontology_hp_0001629_human_phenotype_ontology_hp_0001652_mondo_mondo_0002070_medgen_c0018818_omim_ps614429 Ventricular septal defect Human_Phenotype_Ontology:HP:0001629,Human_Phenotype_Ontology:HP:0001652,MONDO:MONDO:0002070,MedGen:C0018818,OMIM:PS614429 1 1 1.0000 condition_record_support_limited 20 0 1 Ventricular_septal_defect 3 low_record_burden_interpretation_limited low_record_burden_gene FOXP4 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 3 low_record_burden_interpretation_limited low_record_burden_gene FOXP4 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorineural_hearing_loss_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene FOXP4 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene FOXP4 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 3 low_record_burden_interpretation_limited low_record_burden_gene FOXP4 human_phenotype_ontology_hp_0003071_human_phenotype_ontology_hp_0004982_human_phenotype_ontology_hp_0005051_human_phenotype_ontology_hp_0005076_human_phenotype_ontology_hp_0005080_medgen_c1857527 Flattened epiphysis Human_Phenotype_Ontology:HP:0003071,Human_Phenotype_Ontology:HP:0004982,Human_Phenotype_Ontology:HP:0005051,Human_Phenotype_Ontology:HP:0005076,Human_Phenotype_Ontology:HP:0005080,MedGen:C1857527 1 1 1.0000 condition_record_support_limited 20 0 1 Flattened_epiphysis 3 low_record_burden_interpretation_limited low_record_burden_gene FOXP4 human_phenotype_ontology_hp_0002656_medgen_c0392476 Epiphyseal dysplasia Human_Phenotype_Ontology:HP:0002656,MedGen:C0392476 1 1 1.0000 condition_record_support_limited 20 0 1 Epiphyseal_dysplasia 3 low_record_burden_interpretation_limited low_record_burden_gene FOXP4 human_phenotype_ontology_hp_0003498_human_phenotype_ontology_hp_0008895_human_phenotype_ontology_hp_0008900_medgen_c0878659 Disproportionate short stature Human_Phenotype_Ontology:HP:0003498,Human_Phenotype_Ontology:HP:0008895,Human_Phenotype_Ontology:HP:0008900,MedGen:C0878659 1 1 1.0000 condition_record_support_limited 20 0 1 Disproportionate_short_stature 3 low_record_burden_interpretation_limited low_record_burden_gene FOXP4 human_phenotype_ontology_hp_0004484_medgen_c4025320 Craniofacial asymmetry Human_Phenotype_Ontology:HP:0004484,MedGen:C4025320 1 1 1.0000 condition_record_support_limited 20 0 1 Craniofacial_asymmetry 3 low_record_burden_interpretation_limited low_record_burden_gene FOXP3 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 1.0000 condition_record_support_limited 20 0 0 Non-obstructive_azoospermia 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP3 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP3 mondo_mondo_0009359_medgen_c1856053_omim_236500_orphanet_500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome MONDO:MONDO:0009359,MedGen:C1856053,OMIM:236500,Orphanet:500135 1 1 1.0000 condition_record_support_limited 20 0 0 Multinucleated_neurons-anhydramnios-renal_dysplasia-cerebellar_hypoplasia-hydranencephaly_syndrome 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP3 mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 Centronuclear myopathy MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 1 1 1.0000 condition_record_support_limited 20 0 0 Centronuclear_myopathy 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP1 human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 1.0000 condition_record_support_limited 20 0 1 Strabismus 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP1 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP1 human_phenotype_ontology_hp_0001076_medgen_c1854408 Glabellar hemangioma Human_Phenotype_Ontology:HP:0001076,MedGen:C1854408 1 1 1.0000 condition_record_support_limited 20 0 1 Glabellar_hemangioma 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP1 foxp1_related_neurodevelopmental_disorder FOXP1-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 FOXP1-related_neurodevelopmental_disorder 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP1 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_disorder 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP1 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP1 mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cerebellar_hypoplasia 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP1 human_phenotype_ontology_hp_0001320_medgen_c1840379 Cerebellar vermis hypoplasia Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_vermis_hypoplasia 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXP1 human_phenotype_ontology_hp_0008604_human_phenotype_ontology_hp_0009908_medgen_c1851897_omim_128950 Anterior creases of earlobe Human_Phenotype_Ontology:HP:0008604,Human_Phenotype_Ontology:HP:0009908,MedGen:C1851897,OMIM:128950 1 1 1.0000 condition_record_support_limited 20 0 1 Anterior_creases_of_earlobe 192 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXO1 mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 Malignant lymphoma, large B-cell, diffuse MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 1 1 1.0000 condition_record_support_limited 20 0 0 Malignant_lymphoma,_large_B-cell,_diffuse 1 low_record_burden_interpretation_limited low_record_burden_gene FOXN1 t_cell_lymphopenia_infantile_without_nail_dystrophy_autosomal_dominant T-CELL LYMPHOPENIA, INFANTILE, WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT . 1 1 1.0000 condition_record_support_limited 20 0 1 T-CELL_LYMPHOPENIA,_INFANTILE,_WITHOUT_NAIL_DYSTROPHY,_AUTOSOMAL_DOMINANT 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOXL2 medgen_c1854128 Blepharophimosis, ptosis, and epicanthus inversus, type II with Duane retraction syndrome MedGen:C1854128 1 1 1.0000 condition_record_support_limited 20 0 1 Blepharophimosis,_ptosis,_and_epicanthus_inversus,_type_II_with_Duane_retraction_syndrome 174 single_exon_hotspot_opportunity local_compact_architecture FOXL2 human_phenotype_ontology_hp_0000507_human_phenotype_ontology_hp_0000513_human_phenotype_ontology_hp_0000581_mondo_mondo_0001008_medgen_c0005744 Blepharophimosis Human_Phenotype_Ontology:HP:0000507,Human_Phenotype_Ontology:HP:0000513,Human_Phenotype_Ontology:HP:0000581,MONDO:MONDO:0001008,MedGen:C0005744 1 1 1.0000 condition_record_support_limited 20 0 0 Blepharophimosis 174 single_exon_hotspot_opportunity local_compact_architecture FOXJ1 foxj1_related_disorder FOXJ1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 FOXJ1-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene FOXI1 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 0 Sensorineural_hearing_loss_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene FOXI1 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 0 Hearing_impairment 5 low_record_burden_interpretation_limited low_record_burden_gene FOXG1 human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 1.0000 condition_record_support_limited 20 0 1 Strabismus 278 single_exon_hotspot_opportunity local_compact_architecture FOXG1 mondo_mondo_0002265_medgen_c0038273 Stereotypic movement disorder MONDO:MONDO:0002265,MedGen:C0038273 1 1 1.0000 condition_record_support_limited 20 0 1 Stereotypic_movement_disorder 278 single_exon_hotspot_opportunity local_compact_architecture FOXG1 human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 278 single_exon_hotspot_opportunity local_compact_architecture FOXG1 severe_intellectual_deficiency Severe intellectual deficiency . 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_deficiency 278 single_exon_hotspot_opportunity local_compact_architecture FOXG1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 0 Seizure 278 single_exon_hotspot_opportunity local_compact_architecture FOXG1 human_phenotype_ontology_hp_0011451_medgen_c2677180 Primary microcephaly Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_microcephaly 278 single_exon_hotspot_opportunity local_compact_architecture FOXG1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 0 Microcephaly 278 single_exon_hotspot_opportunity local_compact_architecture FOXG1 human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Lissencephaly Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 1 1 1.0000 condition_record_support_limited 20 0 0 Lissencephaly 278 single_exon_hotspot_opportunity local_compact_architecture FOXG1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 278 single_exon_hotspot_opportunity local_compact_architecture FOXG1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 278 single_exon_hotspot_opportunity local_compact_architecture FOXG1 mondo_mondo_0014547_medgen_c4015643_omim_616239_orphanet_444458 Combined oxidative phosphorylation defect type 24 MONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239,Orphanet:444458 1 1 1.0000 condition_record_support_limited 20 0 0 Combined_oxidative_phosphorylation_defect_type_24 278 single_exon_hotspot_opportunity local_compact_architecture FOXG1 human_phenotype_ontology_hp_0002320_human_phenotype_ontology_hp_0008936_medgen_c1853743 Axial hypotonia Human_Phenotype_Ontology:HP:0002320,Human_Phenotype_Ontology:HP:0008936,MedGen:C1853743 1 1 1.0000 condition_record_support_limited 20 0 1 Axial_hypotonia 278 single_exon_hotspot_opportunity local_compact_architecture FOXG1 human_phenotype_ontology_hp_0007003_human_phenotype_ontology_hp_0007060_human_phenotype_ontology_hp_0007061_human_phenotype_ontology_hp_0007137_human_phenotype_ontology_hp_0007370_medgen_c1861866 Aplasia/Hypoplasia of the corpus callosum Human_Phenotype_Ontology:HP:0007003,Human_Phenotype_Ontology:HP:0007060,Human_Phenotype_Ontology:HP:0007061,Human_Phenotype_Ontology:HP:0007137,Human_Phenotype_Ontology:HP:0007370,MedGen:C1861866 1 1 1.0000 condition_record_support_limited 20 0 1 Aplasia/Hypoplasia_of_the_corpus_callosum 278 single_exon_hotspot_opportunity local_compact_architecture FOXG1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 278 single_exon_hotspot_opportunity local_compact_architecture FOXG1 human_phenotype_ontology_hp_0000587_medgen_c0029131 Abnormal optic nerve morphology Human_Phenotype_Ontology:HP:0000587,MedGen:C0029131 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_optic_nerve_morphology 278 single_exon_hotspot_opportunity local_compact_architecture FOXG1 human_phenotype_ontology_hp_0002060_medgen_c4021762 Abnormal cerebral morphology Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cerebral_morphology 278 single_exon_hotspot_opportunity local_compact_architecture FOXF1 human_phenotype_ontology_hp_0001629_human_phenotype_ontology_hp_0001652_mondo_mondo_0002070_medgen_c0018818_omim_ps614429 Ventricular septal defect Human_Phenotype_Ontology:HP:0001629,Human_Phenotype_Ontology:HP:0001652,MONDO:MONDO:0002070,MedGen:C0018818,OMIM:PS614429 1 1 1.0000 condition_record_support_limited 20 0 1 Ventricular_septal_defect 66 compact_adjacent_exon_block_opportunity local_compact_architecture FOXF1 mondo_mondo_0008642_medgen_c4225671_omim_192350_orphanet_887 VATER association MONDO:MONDO:0008642,MedGen:C4225671,OMIM:192350,Orphanet:887 1 1 1.0000 condition_record_support_limited 20 0 0 VATER_association 66 compact_adjacent_exon_block_opportunity local_compact_architecture FOXF1 mondo_mondo_0012922_medgen_c2675862_omim_612525 Pyloric stenosis, infantile hypertrophic, 5 MONDO:MONDO:0012922,MedGen:C2675862,OMIM:612525 1 1 1.0000 condition_record_support_limited 20 0 0 Pyloric_stenosis,_infantile_hypertrophic,_5 66 compact_adjacent_exon_block_opportunity local_compact_architecture FOXF1 human_phenotype_ontology_hp_0010956_medgen_c2931117 Fetal megacystis Human_Phenotype_Ontology:HP:0010956,MedGen:C2931117 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_megacystis 66 compact_adjacent_exon_block_opportunity local_compact_architecture FOXF1 foxf1_related_disorder FOXF1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FOXF1-related_disorder 66 compact_adjacent_exon_block_opportunity local_compact_architecture FOXF1 human_phenotype_ontology_hp_0000068_mondo_mondo_0015195_medgen_c0345345_orphanet_105 Atresia of urethra Human_Phenotype_Ontology:HP:0000068,MONDO:MONDO:0015195,MedGen:C0345345,Orphanet:105 1 1 1.0000 condition_record_support_limited 20 0 1 Atresia_of_urethra 66 compact_adjacent_exon_block_opportunity local_compact_architecture FOXE3 human_phenotype_ontology_hp_0000659_mondo_mondo_0011414_medgen_c0344559_omim_604229_orphanet_708 Irido-corneo-trabecular dysgenesis Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708 1 1 1.0000 condition_record_support_limited 20 0 1 Irido-corneo-trabecular_dysgenesis 33 single_exon_hotspot_opportunity local_compact_architecture FOXE3 foxe3_related_disorder FOXE3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 FOXE3-related_disorder 33 single_exon_hotspot_opportunity local_compact_architecture FOXE3 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 33 single_exon_hotspot_opportunity local_compact_architecture FOXE1 congenital_hypothyreodism congenital hypothyreodism . 1 1 1.0000 condition_record_support_limited 20 0 0 congenital_hypothyreodism 6 low_record_burden_interpretation_limited low_record_burden_gene FOXE1 mondo_mondo_0014681_medgen_c4225293_omim_616534 Thyroid cancer, nonmedullary, 4 MONDO:MONDO:0014681,MedGen:C4225293,OMIM:616534 1 1 1.0000 condition_record_support_limited 20 0 0 Thyroid_cancer,_nonmedullary,_4 6 low_record_burden_interpretation_limited low_record_burden_gene FOXD2 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 2 low_record_burden_interpretation_limited low_record_burden_gene FOXD2 foxd2_associated_disorder FOXD2-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 FOXD2-associated_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene FOXC2 medgen_c2675066 LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS MedGen:C2675066 1 1 1.0000 condition_record_support_limited 20 0 0 LYMPHEDEMA-DISTICHIASIS_SYNDROME_WITH_RENAL_DISEASE_AND_DIABETES_MELLITUS 57 single_exon_hotspot_opportunity local_compact_architecture FOXC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 150 single_exon_hotspot_opportunity local_compact_architecture FOXC1 mondo_mondo_0009403_medgen_c1855903_omim_239711 Hypertelorism and tetralogy of fallot MONDO:MONDO:0009403,MedGen:C1855903,OMIM:239711 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertelorism_and_tetralogy_of_fallot 150 single_exon_hotspot_opportunity local_compact_architecture FOXC1 human_phenotype_ontology_hp_0001087_mondo_mondo_0020367_medgen_c2981140_orphanet_98977 Glaucoma of childhood Human_Phenotype_Ontology:HP:0001087,MONDO:MONDO:0020367,MedGen:C2981140,Orphanet:98977 1 1 1.0000 condition_record_support_limited 20 0 0 Glaucoma_of_childhood 150 single_exon_hotspot_opportunity local_compact_architecture FOXC1 mondo_mondo_0100235_medgen_cn323279 FOXC1-related anterior segment dysgenesis MONDO:MONDO:0100235,MedGen:CN323279 1 1 1.0000 condition_record_support_limited 20 0 0 FOXC1-related_anterior_segment_dysgenesis 150 single_exon_hotspot_opportunity local_compact_architecture FOXA2 mondo_mondo_0018762_medgen_c5680091_orphanet_467 Non-acquired combined pituitary hormone deficiency MONDO:MONDO:0018762,MedGen:C5680091,Orphanet:467 1 1 1.0000 condition_record_support_limited 20 0 0 Non-acquired_combined_pituitary_hormone_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene FOXA2 congenital_syndromic_hypopituitarism Congenital syndromic hypopituitarism . 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_syndromic_hypopituitarism 2 low_record_burden_interpretation_limited low_record_burden_gene FOSL2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene FOS human_phenotype_ontology_hp_0011002_mondo_mondo_0017198_medgen_c0029454_orphanet_2781 Osteopetrosis Human_Phenotype_Ontology:HP:0011002,MONDO:MONDO:0017198,MedGen:C0029454,Orphanet:2781 1 1 1.0000 condition_record_support_limited 20 0 0 Osteopetrosis 1 low_record_burden_interpretation_limited low_record_burden_gene FOLR1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOLR1 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 0 Epileptic_encephalopathy 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FOCAD condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene FOCAD focad_related_disorder FOCAD-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 FOCAD-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene FNTA mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 1 low_record_burden_interpretation_limited low_record_burden_gene FN1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FN1 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FN1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FN1 fn1_related_disorder FN1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FN1-related_disorder 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FMR1 mondo_mondo_0010382_medgen_c1839780_omim_300623_orphanet_93256 Fragile X-associated tremor/ataxia syndrome MONDO:MONDO:0010382,MedGen:C1839780,OMIM:300623,Orphanet:93256 1 1 1.0000 condition_record_support_limited 20 0 0 Fragile_X-associated_tremor/ataxia_syndrome 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FMR1 human_phenotype_ontology_hp_0000729_medgen_c0856975 Autistic behavior Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 1.0000 condition_record_support_limited 20 0 1 Autistic_behavior 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FMO3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FMO3 medgen_c4016100 FMO3 activity, decreased MedGen:C4016100 1 1 1.0000 condition_record_support_limited 20 0 1 FMO3_activity,_decreased 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FMNL2 human_phenotype_ontology_hp_0100280_mondo_mondo_0005011_medgen_c0010346 Crohn disease Human_Phenotype_Ontology:HP:0100280,MONDO:MONDO:0005011,MedGen:C0010346 1 1 1.0000 condition_record_support_limited 20 0 0 Crohn_disease 1 low_record_burden_interpretation_limited low_record_burden_gene FMN2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 17 low_record_burden_interpretation_limited low_record_burden_gene FMN1 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_breast_ovarian_cancer_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene FMN1 mondo_mondo_0013669_medgen_c3280345_omim_614291_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 4 MONDO:MONDO:0013669,MedGen:C3280345,OMIM:614291,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 0 Breast-ovarian_cancer,_familial,_susceptibility_to,_4 2 low_record_burden_interpretation_limited low_record_burden_gene FMC1 mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 Usher syndrome MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 1 1 1.0000 condition_record_support_limited 20 0 0 Usher_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene FLVCR2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 21 compact_adjacent_exon_block_opportunity local_compact_architecture FLVCR1 mondo_mondo_0019353_medgen_c0271093_orphanet_827 Stargardt disease MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827 1 1 1.0000 condition_record_support_limited 20 0 0 Stargardt_disease 59 compact_adjacent_exon_block_opportunity local_compact_architecture FLVCR1 mondo_mondo_0015461_medgen_c0036996_orphanet_1505 Short rib-polydactyly syndrome MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505 1 1 1.0000 condition_record_support_limited 20 0 0 Short_rib-polydactyly_syndrome 59 compact_adjacent_exon_block_opportunity local_compact_architecture FLVCR1 mondo_mondo_0018770_medgen_c0265275_omim_ps208500_orphanet_474 Jeune thoracic dystrophy MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474 1 1 1.0000 condition_record_support_limited 20 0 0 Jeune_thoracic_dystrophy 59 compact_adjacent_exon_block_opportunity local_compact_architecture FLVCR1 mondo_mondo_0015364_medgen_c0027889_omim_ps162400_orphanet_140471 Hereditary sensory and autonomic neuropathy MONDO:MONDO:0015364,MedGen:C0027889,OMIM:PS162400,Orphanet:140471 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_sensory_and_autonomic_neuropathy 59 compact_adjacent_exon_block_opportunity local_compact_architecture FLVCR1 flvcr1_related_disorder FLVCR1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FLVCR1-related_disorder 59 compact_adjacent_exon_block_opportunity local_compact_architecture FLT4 human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 1.0000 condition_record_support_limited 20 0 1 Non-immune_hydrops_fetalis 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLT4 flt4_related_disorders FLT4-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 FLT4-related_disorders 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLT4 mondo_mondo_0011191_medgen_c1865871_omim_602089 Capillary infantile hemangioma MONDO:MONDO:0011191,MedGen:C1865871,OMIM:602089 1 1 1.0000 condition_record_support_limited 20 0 1 Capillary_infantile_hemangioma 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FLT3LG mondo_mondo_0975749_medgen_c5975353_omim_620926 Immunodeficiency 125 MONDO:MONDO:0975749,MedGen:C5975353,OMIM:620926 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_125 1 low_record_burden_interpretation_limited low_record_burden_gene FLT3 myelodysplastic_syndrome_progressed_to_acute_myeloid_leukemia Myelodysplastic syndrome progressed to acute myeloid leukemia . 1 1 1.0000 condition_record_support_limited 20 0 0 Myelodysplastic_syndrome_progressed_to_acute_myeloid_leukemia 12 low_record_burden_interpretation_limited low_record_burden_gene FLT3 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 12 low_record_burden_interpretation_limited low_record_burden_gene FLRT3 mondo_mondo_0014107_medgen_c3808986_omim_615271_orphanet_478 Hypogonadotropic hypogonadism 21 with or without anosmia MONDO:MONDO:0014107,MedGen:C3808986,OMIM:615271,Orphanet:478 1 1 1.0000 condition_record_support_limited 20 0 0 Hypogonadotropic_hypogonadism_21_with_or_without_anosmia 1 low_record_burden_interpretation_limited low_record_burden_gene FLNC human_phenotype_ontology_hp_0031122_medgen_c4476982 Two-raphe bicuspid aortic valve Human_Phenotype_Ontology:HP:0031122,MedGen:C4476982 1 1 1.0000 condition_record_support_limited 20 0 1 Two-raphe_bicuspid_aortic_valve 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC human_phenotype_ontology_hp_0001636_mondo_mondo_0008542_medgen_c0039685_omim_187500_orphanet_3303 Tetralogy of Fallot Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303 1 1 1.0000 condition_record_support_limited 20 0 1 Tetralogy_of_Fallot 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_ataxia 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC human_phenotype_ontology_hp_0001655_mondo_mondo_0020439_medgen_c0016522 Patent foramen ovale Human_Phenotype_Ontology:HP:0001655,MONDO:MONDO:0020439,MedGen:C0016522 1 1 1.0000 condition_record_support_limited 20 0 1 Patent_foramen_ovale 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC mondo_mondo_0018958_medgen_c0206157_omim_ps161800_orphanet_607 Nemaline myopathy MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607 1 1 1.0000 condition_record_support_limited 20 0 0 Nemaline_myopathy 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC human_phenotype_ontology_hp_0003715_mondo_mondo_0018943_medgen_c2678065_omim_ps601419_orphanet_593 Myofibrillar myopathy Human_Phenotype_Ontology:HP:0003715,MONDO:MONDO:0018943,MedGen:C2678065,OMIM:PS601419,Orphanet:593 1 1 1.0000 condition_record_support_limited 20 0 1 Myofibrillar_myopathy 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC human_phenotype_ontology_hp_0000324_human_phenotype_ontology_hp_0003775_medgen_c1306710 Facial asymmetry Human_Phenotype_Ontology:HP:0000324,Human_Phenotype_Ontology:HP:0003775,MedGen:C1306710 1 1 1.0000 condition_record_support_limited 20 0 1 Facial_asymmetry 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC flnc_associated_cardiomyopathy FLNC-associated cardiomyopathy . 1 1 1.0000 condition_record_support_limited 20 0 0 FLNC-associated_cardiomyopathy 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC human_phenotype_ontology_hp_0002572_medgen_c1838993 Episodic vomiting Human_Phenotype_Ontology:HP:0002572,MedGen:C1838993 1 1 1.0000 condition_record_support_limited 20 0 1 Episodic_vomiting 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC mondo_mondo_0004995_medgen_c0007222 Disorder of cardiovascular system MONDO:MONDO:0004995,MedGen:C0007222 1 1 1.0000 condition_record_support_limited 20 0 0 Disorder_of_cardiovascular_system 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 Dilated cardiomyopathy 1A MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 1 1 1.0000 condition_record_support_limited 20 0 0 Dilated_cardiomyopathy_1A 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC mondo_mondo_0011076_medgen_c1832370_omim_601419_orphanet_363543_orphanet_98909 Desmin-related myofibrillar myopathy MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419,Orphanet:363543,Orphanet:98909 1 1 1.0000 condition_record_support_limited 20 0 1 Desmin-related_myofibrillar_myopathy 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC mondo_mondo_0100042_medgen_c0264886_omim_115080_orphanet_871 Conduction disorder of the heart MONDO:MONDO:0100042,MedGen:C0264886,OMIM:115080,Orphanet:871 1 1 1.0000 condition_record_support_limited 20 0 1 Conduction_disorder_of_the_heart 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC human_phenotype_ontology_hp_0001555_medgen_c1858033 Asymmetry of the thorax Human_Phenotype_Ontology:HP:0001555,MedGen:C1858033 1 1 1.0000 condition_record_support_limited 20 0 1 Asymmetry_of_the_thorax 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC human_phenotype_ontology_hp_0001670_medgen_c0205700 Asymmetric septal hypertrophy Human_Phenotype_Ontology:HP:0001670,MedGen:C0205700 1 1 1.0000 condition_record_support_limited 20 0 1 Asymmetric_septal_hypertrophy 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC medgen_c5830688 Arrhythmogenic right ventricular dysplasia, familial, 15 MedGen:C5830688 1 1 1.0000 condition_record_support_limited 20 0 0 Arrhythmogenic_right_ventricular_dysplasia,_familial,_15 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 Arrhythmogenic right ventricular cardiomyopathy MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 1 1 1.0000 condition_record_support_limited 20 0 1 Arrhythmogenic_right_ventricular_cardiomyopathy 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC human_phenotype_ontology_hp_0001628_human_phenotype_ontology_hp_0010438_medgen_c4021264 Abnormal ventricular septum morphology Human_Phenotype_Ontology:HP:0001628,Human_Phenotype_Ontology:HP:0010438,MedGen:C4021264 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_ventricular_septum_morphology 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNC human_phenotype_ontology_hp_0031192_medgen_c4531288 Abnormal morphology of left ventricular trabeculae Human_Phenotype_Ontology:HP:0031192,MedGen:C4531288 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_morphology_of_left_ventricular_trabeculae 606 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNB human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 153 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNB human_phenotype_ontology_hp_0003065_human_phenotype_ontology_hp_0005020_medgen_c1840068 Patellar hypoplasia Human_Phenotype_Ontology:HP:0003065,Human_Phenotype_Ontology:HP:0005020,MedGen:C1840068 1 1 1.0000 condition_record_support_limited 20 0 1 Patellar_hypoplasia 153 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNB human_phenotype_ontology_hp_0005085_medgen_c1968606 Limited knee flexion/extension Human_Phenotype_Ontology:HP:0005085,MedGen:C1968606 1 1 1.0000 condition_record_support_limited 20 0 1 Limited_knee_flexion/extension 153 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNB human_phenotype_ontology_hp_0004976_human_phenotype_ontology_hp_0006469_medgen_c0159970 Knee dislocation Human_Phenotype_Ontology:HP:0004976,Human_Phenotype_Ontology:HP:0006469,MedGen:C0159970 1 1 1.0000 condition_record_support_limited 20 0 1 Knee_dislocation 153 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 153 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNB flnb_related_spectrum_disorders FLNB-Related Spectrum Disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 FLNB-Related_Spectrum_Disorders 153 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNB human_phenotype_ontology_hp_0000924_medgen_c4021790 Abnormality of the skeletal system Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_skeletal_system 153 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA x_linked_flna_related_disorders X-linked FLNA-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 X-linked_FLNA-related_disorders 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA human_phenotype_ontology_hp_0002933_medgen_c0019326 Ventral hernia Human_Phenotype_Ontology:HP:0002933,MedGen:C0019326 1 1 1.0000 condition_record_support_limited 20 0 1 Ventral_hernia 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA human_phenotype_ontology_hp_0002617_medgen_c0002940 Vascular dilatation Human_Phenotype_Ontology:HP:0002617,MedGen:C0002940 1 1 1.0000 condition_record_support_limited 20 0 1 Vascular_dilatation 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 0 Seizure 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA human_phenotype_ontology_hp_0001655_mondo_mondo_0020439_medgen_c0016522 Patent foramen ovale Human_Phenotype_Ontology:HP:0001655,MONDO:MONDO:0020439,MedGen:C0016522 1 1 1.0000 condition_record_support_limited 20 0 1 Patent_foramen_ovale 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA human_phenotype_ontology_hp_0040185_medgen_c2751260 Macrothrombocytopenia Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260 1 1 1.0000 condition_record_support_limited 20 0 0 Macrothrombocytopenia 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA medgen_c4016451 HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED, WITH FRONTOMETAPHYSEAL DYSPLASIA MedGen:C4016451 1 1 1.0000 condition_record_support_limited 20 0 0 HETEROTOPIA,_PERIVENTRICULAR_NODULAR,_X-LINKED,_WITH_FRONTOMETAPHYSEAL_DYSPLASIA 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA heterotopia_periventricular_nodular_x_linked_dominant_with_melnick_needles_syndrome HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME . 1 1 1.0000 condition_record_support_limited 20 0 0 HETEROTOPIA,_PERIVENTRICULAR_NODULAR,_X-LINKED_DOMINANT,_WITH_MELNICK-NEEDLES_SYNDROME 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA human_phenotype_ontology_hp_0006989_human_phenotype_ontology_hp_0006996_medgen_c0431369 Dysplastic corpus callosum Human_Phenotype_Ontology:HP:0006989,Human_Phenotype_Ontology:HP:0006996,MedGen:C0431369 1 1 1.0000 condition_record_support_limited 20 0 1 Dysplastic_corpus_callosum 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA human_phenotype_ontology_hp_0000367_human_phenotype_ontology_hp_0000405_human_phenotype_ontology_hp_0008581_mondo_mondo_0020679_medgen_c0018777 Conductive hearing impairment Human_Phenotype_Ontology:HP:0000367,Human_Phenotype_Ontology:HP:0000405,Human_Phenotype_Ontology:HP:0008581,MONDO:MONDO:0020679,MedGen:C0018777 1 1 1.0000 condition_record_support_limited 20 0 1 Conductive_hearing_impairment 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Cleft palate Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 1.0000 condition_record_support_limited 20 0 1 Cleft_palate 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 0 Cardiovascular_phenotype 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA medgen_c3806579 CONGENITAL SHORT BOWEL SYNDROME, X-LINKED MedGen:C3806579 1 1 1.0000 condition_record_support_limited 20 0 1 CONGENITAL_SHORT_BOWEL_SYNDROME,_X-LINKED 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA human_phenotype_ontology_hp_0005116_medgen_c3279191 Arterial tortuosity Human_Phenotype_Ontology:HP:0005116,MedGen:C3279191 1 1 1.0000 condition_record_support_limited 20 0 1 Arterial_tortuosity 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA human_phenotype_ontology_hp_0004420_medgen_c0151942 Arterial thrombosis Human_Phenotype_Ontology:HP:0004420,MedGen:C0151942 1 1 1.0000 condition_record_support_limited 20 0 1 Arterial_thrombosis 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA human_phenotype_ontology_hp_0000271_medgen_c4025871 Abnormality of the face Human_Phenotype_Ontology:HP:0000271,MedGen:C4025871 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_face 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLNA human_phenotype_ontology_hp_0002060_medgen_c4021762 Abnormal cerebral morphology Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_cerebral_morphology 333 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLII efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 3 low_record_burden_interpretation_limited low_record_burden_gene FLI1 human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombocytopenia 9 low_record_burden_interpretation_limited low_record_burden_gene FLI1 bleeding_disorder_platelet_type_macrothrombocytopenia Bleeding disorder platelet type macrothrombocytopenia MedGen:CN233138 1 1 1.0000 condition_record_support_limited 20 0 1 Bleeding_disorder_platelet_type_macrothrombocytopenia 9 low_record_burden_interpretation_limited low_record_burden_gene FLI1 human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_bleeding 9 low_record_burden_interpretation_limited low_record_burden_gene FLG human_phenotype_ontology_hp_0002268_human_phenotype_ontology_hp_0002412_mondo_mondo_0016058_medgen_c0393588_orphanet_200037 Paroxysmal dystonia Human_Phenotype_Ontology:HP:0002268,Human_Phenotype_Ontology:HP:0002412,MONDO:MONDO:0016058,MedGen:C0393588,Orphanet:200037 1 1 1.0000 condition_record_support_limited 20 0 1 Paroxysmal_dystonia 246 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLG human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 246 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLG medgen_c1135954 Incidental Discovery MedGen:C1135954 1 1 1.0000 condition_record_support_limited 20 0 1 Incidental_Discovery 246 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLG human_phenotype_ontology_hp_0000955_human_phenotype_ontology_hp_0007547_human_phenotype_ontology_hp_0008064_mondo_mondo_0019269_medgen_c0020757_orphanet_79354 Ichthyosis Human_Phenotype_Ontology:HP:0000955,Human_Phenotype_Ontology:HP:0007547,Human_Phenotype_Ontology:HP:0008064,MONDO:MONDO:0019269,MedGen:C0020757,Orphanet:79354 1 1 1.0000 condition_record_support_limited 20 0 1 Ichthyosis 246 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLG human_phenotype_ontology_hp_0011968_medgen_c0232466 Feeding difficulties Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466 1 1 1.0000 condition_record_support_limited 20 0 1 Feeding_difficulties 246 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLG human_phenotype_ontology_hp_0000964_human_phenotype_ontology_hp_0000976_human_phenotype_ontology_hp_0001481_medgen_c0013595 Eczematoid dermatitis Human_Phenotype_Ontology:HP:0000964,Human_Phenotype_Ontology:HP:0000976,Human_Phenotype_Ontology:HP:0001481,MedGen:C0013595 1 1 1.0000 condition_record_support_limited 20 0 1 Eczematoid_dermatitis 246 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLG human_phenotype_ontology_hp_0000958_medgen_c0151908 Dry skin Human_Phenotype_Ontology:HP:0000958,MedGen:C0151908 1 1 1.0000 condition_record_support_limited 20 0 1 Dry_skin 246 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLG medgen_c1864155_omim_603165 Dermatitis, atopic MedGen:C1864155,OMIM:603165 1 1 1.0000 condition_record_support_limited 20 0 1 Dermatitis,_atopic 246 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLG mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cerebellar_hypoplasia 246 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLG autosomal_recessive_flg_related_disorders Autosomal recessive FLG-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_FLG-related_disorders 246 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLG human_phenotype_ontology_hp_0001047_human_phenotype_ontology_hp_0007533_human_phenotype_ontology_hp_0007564_mondo_mondo_0004980_medgen_c0011615_omim_ps603165 Atopic eczema Human_Phenotype_Ontology:HP:0001047,Human_Phenotype_Ontology:HP:0007533,Human_Phenotype_Ontology:HP:0007564,MONDO:MONDO:0004980,MedGen:C0011615,OMIM:PS603165 1 1 1.0000 condition_record_support_limited 20 0 1 Atopic_eczema 246 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLG human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Abnormality of the skin Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_skin 246 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLG human_phenotype_ontology_hp_0100755_medgen_c4021978 Abnormality of salivation Human_Phenotype_Ontology:HP:0100755,MedGen:C4021978 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_salivation 246 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FLCN human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Pulmonary arterial hypertension Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 1 1 1.0000 condition_record_support_limited 20 0 1 Pulmonary_arterial_hypertension 425 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FLCN human_phenotype_ontology_hp_0033680_mondo_mondo_0016691_medgen_c0334583_orphanet_251612 Pilocytic astrocytoma Human_Phenotype_Ontology:HP:0033680,MONDO:MONDO:0016691,MedGen:C0334583,Orphanet:251612 1 1 1.0000 condition_record_support_limited 20 0 1 Pilocytic_astrocytoma 425 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FLCN inherited_renal_cancer Inherited renal cancer . 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_renal_cancer 425 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FLCN human_phenotype_ontology_hp_0000829_human_phenotype_ontology_hp_0000856_human_phenotype_ontology_hp_0008292_mondo_mondo_0001220_medgen_c0020626 Hypoparathyroidism Human_Phenotype_Ontology:HP:0000829,Human_Phenotype_Ontology:HP:0000856,Human_Phenotype_Ontology:HP:0008292,MONDO:MONDO:0001220,MedGen:C0020626 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoparathyroidism 425 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FLCN hereditary_renal_cancer Hereditary renal cancer . 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_renal_cancer 425 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FLCN mondo_mondo_0017885_medgen_c1266042_orphanet_319303 Chromophobe renal cell carcinoma MONDO:MONDO:0017885,MedGen:C1266042,Orphanet:319303 1 1 1.0000 condition_record_support_limited 20 0 0 Chromophobe_renal_cell_carcinoma 425 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FLAD1 flad1_related_disorder FLAD1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FLAD1-related_disorder 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKTN mondo_mondo_0700067_medgen_cn305638 Myopathy caused by variation in FKTN MONDO:MONDO:0700067,MedGen:CN305638 1 1 1.0000 condition_record_support_limited 20 0 0 Myopathy_caused_by_variation_in_FKTN 169 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP human_phenotype_ontology_hp_0000783_human_phenotype_ontology_hp_0003691_medgen_c0240953 Scapular winging Human_Phenotype_Ontology:HP:0000783,Human_Phenotype_Ontology:HP:0003691,MedGen:C0240953 1 1 1.0000 condition_record_support_limited 20 0 1 Scapular_winging 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP human_phenotype_ontology_hp_0002082_human_phenotype_ontology_hp_0003401_medgen_c0030554 Paresthesia Human_Phenotype_Ontology:HP:0002082,Human_Phenotype_Ontology:HP:0003401,MedGen:C0030554 1 1 1.0000 condition_record_support_limited 20 0 1 Paresthesia 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP mondo_mondo_0030030_medgen_c5394350_omim_618872 Nizon-Isidor syndrome MONDO:MONDO:0030030,MedGen:C5394350,OMIM:618872 1 1 1.0000 condition_record_support_limited 20 0 1 Nizon-Isidor_syndrome 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP mondo_mondo_0012080_medgen_c2608087_omim_608634_orphanet_139525 Neuronopathy, distal hereditary motor, type 2B MONDO:MONDO:0012080,MedGen:C2608087,OMIM:608634,Orphanet:139525 1 1 1.0000 condition_record_support_limited 20 0 1 Neuronopathy,_distal_hereditary_motor,_type_2B 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 1.0000 condition_record_support_limited 20 0 1 Myopathy 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Muscular dystrophy Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 1 1 1.0000 condition_record_support_limited 20 0 1 Muscular_dystrophy 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Muscle weakness Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 1 1 1.0000 condition_record_support_limited 20 0 1 Muscle_weakness 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Limb-girdle muscular dystrophy Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 1.0000 condition_record_support_limited 20 0 1 Limb-girdle_muscular_dystrophy 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP mondo_mondo_0700223_medgen_cn324038 Hereditary skeletal muscle disorder MONDO:MONDO:0700223,MedGen:CN324038 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_skeletal_muscle_disorder 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP human_phenotype_ontology_hp_0000266_human_phenotype_ontology_hp_0001354_human_phenotype_ontology_hp_0002315_medgen_c0018681 Headache Human_Phenotype_Ontology:HP:0000266,Human_Phenotype_Ontology:HP:0001354,Human_Phenotype_Ontology:HP:0002315,MedGen:C0018681 1 1 1.0000 condition_record_support_limited 20 0 1 Headache 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP human_phenotype_ontology_hp_0002141_human_phenotype_ontology_hp_0100683_medgen_c1836150 Gait imbalance Human_Phenotype_Ontology:HP:0002141,Human_Phenotype_Ontology:HP:0100683,MedGen:C1836150 1 1 1.0000 condition_record_support_limited 20 0 1 Gait_imbalance 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP fkrp_related_muscular_dystrophy_dystroglycanopathy FKRP-related muscular dystrophy-dystroglycanopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 FKRP-related_muscular_dystrophy-dystroglycanopathy 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP human_phenotype_ontology_hp_0002355_human_phenotype_ontology_hp_0007101_human_phenotype_ontology_hp_0009030_medgen_c0311394 Difficulty walking Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394 1 1 1.0000 condition_record_support_limited 20 0 1 Difficulty_walking 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP human_phenotype_ontology_hp_0003698_medgen_c0241237 Difficulty standing Human_Phenotype_Ontology:HP:0003698,MedGen:C0241237 1 1 1.0000 condition_record_support_limited 20 0 1 Difficulty_standing 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP human_phenotype_ontology_hp_0003551_human_phenotype_ontology_hp_0007019_medgen_c0239067 Difficulty climbing stairs Human_Phenotype_Ontology:HP:0003551,Human_Phenotype_Ontology:HP:0007019,MedGen:C0239067 1 1 1.0000 condition_record_support_limited 20 0 1 Difficulty_climbing_stairs 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKRP human_phenotype_ontology_hp_0008942_medgen_c3807306 Acute rhabdomyolysis Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_rhabdomyolysis 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKBP14 human_phenotype_ontology_hp_0002944_human_phenotype_ontology_hp_0004567_human_phenotype_ontology_hp_0004585_medgen_c0749379 Thoracolumbar scoliosis Human_Phenotype_Ontology:HP:0002944,Human_Phenotype_Ontology:HP:0004567,Human_Phenotype_Ontology:HP:0004585,MedGen:C0749379 1 1 1.0000 condition_record_support_limited 20 0 1 Thoracolumbar_scoliosis 20 compact_adjacent_exon_block_opportunity local_compact_architecture FKBP14 human_phenotype_ontology_hp_0008081_medgen_c1578482 Pes valgus Human_Phenotype_Ontology:HP:0008081,MedGen:C1578482 1 1 1.0000 condition_record_support_limited 20 0 1 Pes_valgus 20 compact_adjacent_exon_block_opportunity local_compact_architecture FKBP14 human_phenotype_ontology_hp_0001378_human_phenotype_ontology_hp_0001382_human_phenotype_ontology_hp_0005034_medgen_c1844820 Joint hypermobility Human_Phenotype_Ontology:HP:0001378,Human_Phenotype_Ontology:HP:0001382,Human_Phenotype_Ontology:HP:0005034,MedGen:C1844820 1 1 1.0000 condition_record_support_limited 20 0 1 Joint_hypermobility 20 compact_adjacent_exon_block_opportunity local_compact_architecture FKBP14 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 20 compact_adjacent_exon_block_opportunity local_compact_architecture FKBP14 fkbp14_related_disorder FKBP14-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FKBP14-related_disorder 20 compact_adjacent_exon_block_opportunity local_compact_architecture FKBP14 human_phenotype_ontology_hp_0003741_human_phenotype_ontology_hp_0003793_mondo_mondo_0019950_medgen_c0699743_orphanet_97242 Congenital muscular dystrophy Human_Phenotype_Ontology:HP:0003741,Human_Phenotype_Ontology:HP:0003793,MONDO:MONDO:0019950,MedGen:C0699743,Orphanet:97242 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_muscular_dystrophy 20 compact_adjacent_exon_block_opportunity local_compact_architecture FKBP10 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKBP10 fkbp10_related_disorder FKBP10-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FKBP10-related_disorder 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKBP10 mondo_mondo_0017195_medgen_c0432253_omim_ps259450_orphanet_2771 Bruck syndrome MONDO:MONDO:0017195,MedGen:C0432253,OMIM:PS259450,Orphanet:2771 1 1 1.0000 condition_record_support_limited 20 0 1 Bruck_syndrome 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FKBP10 human_phenotype_ontology_hp_0000924_medgen_c4021790 Abnormality of the skeletal system Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_skeletal_system 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FITM2 fitm2_related_disorder FITM2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 FITM2-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene FIGLA medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 1 1 1.0000 condition_record_support_limited 20 0 0 Genetic_non-acquired_premature_ovarian_failure 6 low_record_burden_interpretation_limited low_record_burden_gene FIG4 human_phenotype_ontology_hp_0011344_medgen_c1837397 Severe global developmental delay Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_global_developmental_delay 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FIG4 human_phenotype_ontology_hp_0003244_medgen_c1691215 Penile hypospadias Human_Phenotype_Ontology:HP:0003244,MedGen:C1691215 1 1 1.0000 condition_record_support_limited 20 0 1 Penile_hypospadias 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FIG4 human_phenotype_ontology_hp_0000038_human_phenotype_ontology_hp_0000054_medgen_c4551492 Micropenis Human_Phenotype_Ontology:HP:0000038,Human_Phenotype_Ontology:HP:0000054,MedGen:C4551492 1 1 1.0000 condition_record_support_limited 20 0 1 Micropenis 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FIG4 human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FIG4 human_phenotype_ontology_hp_0006808_medgen_c2677328 Cerebral hypomyelination Human_Phenotype_Ontology:HP:0006808,MedGen:C2677328 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_hypomyelination 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FIG4 human_phenotype_ontology_hp_0000924_medgen_c4021790 Abnormality of the skeletal system Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_skeletal_system 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FIBP human_phenotype_ontology_hp_0001548_medgen_c1849265 Overgrowth Human_Phenotype_Ontology:HP:0001548,MedGen:C1849265 1 1 1.0000 condition_record_support_limited 20 0 1 Overgrowth 5 low_record_burden_interpretation_limited low_record_burden_gene FIBP human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 5 low_record_burden_interpretation_limited low_record_burden_gene FIBP mondo_mondo_0004681_medgen_c0751265 Learning disability MONDO:MONDO:0004681,MedGen:C0751265 1 1 1.0000 condition_record_support_limited 20 0 1 Learning_disability 5 low_record_burden_interpretation_limited low_record_burden_gene FIBP human_phenotype_ontology_hp_0001176_human_phenotype_ontology_hp_0002820_human_phenotype_ontology_hp_0006044_human_phenotype_ontology_hp_0006219_medgen_c0426870 Large hands Human_Phenotype_Ontology:HP:0001176,Human_Phenotype_Ontology:HP:0002820,Human_Phenotype_Ontology:HP:0006044,Human_Phenotype_Ontology:HP:0006219,MedGen:C0426870 1 1 1.0000 condition_record_support_limited 20 0 1 Large_hands 5 low_record_burden_interpretation_limited low_record_burden_gene FIBP fibp_related_disorder FIBP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 FIBP-related_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene FIBP human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Congenital ocular coloboma Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_ocular_coloboma 5 low_record_burden_interpretation_limited low_record_burden_gene FIBP medgen_c0266617 Congenital anomaly of face MedGen:C0266617 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_anomaly_of_face 5 low_record_burden_interpretation_limited low_record_burden_gene FHOD3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene FHOD3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 5 low_record_burden_interpretation_limited low_record_burden_gene FHL1 mondo_mondo_0009974_medgen_c4551514_omim_267700_orphanet_540 Familial hemophagocytic lymphohistiocytosis type 1 MONDO:MONDO:0009974,MedGen:C4551514,OMIM:267700,Orphanet:540 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_hemophagocytic_lymphohistiocytosis_type_1 101 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FHL1 fhl1_related_disorder FHL1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 FHL1-related_disorder 101 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FHL1 mondo_mondo_0016830_medgen_c0410189_omim_ps310300_orphanet_261 Emery-Dreifuss muscular dystrophy MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261 1 1 1.0000 condition_record_support_limited 20 0 0 Emery-Dreifuss_muscular_dystrophy 101 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FHL1 mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 Centronuclear myopathy MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 1 1 1.0000 condition_record_support_limited 20 0 1 Centronuclear_myopathy 101 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FHL1 human_phenotype_ontology_hp_0001670_medgen_c0205700 Asymmetric septal hypertrophy Human_Phenotype_Ontology:HP:0001670,MedGen:C0205700 1 1 1.0000 condition_record_support_limited 20 0 0 Asymmetric_septal_hypertrophy 101 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FHL1 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 101 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FHIT mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_breast_ovarian_cancer_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene FHIP2A mondo_mondo_0000508_medgen_c5680525_orphanet_183763 Syndromic intellectual disability MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 1.0000 condition_record_support_limited 20 0 0 Syndromic_intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene FH human_phenotype_ontology_hp_0000131_human_phenotype_ontology_hp_0008642_mondo_mondo_0007886_medgen_c0042133_omim_150699 Uterine leiomyoma Human_Phenotype_Ontology:HP:0000131,Human_Phenotype_Ontology:HP:0008642,MONDO:MONDO:0007886,MedGen:C0042133,OMIM:150699 1 1 1.0000 condition_record_support_limited 20 0 1 Uterine_leiomyoma 482 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FH mondo_mondo_0033480_medgen_c4540400_omim_617769_orphanet_589527 Spinocerebellar ataxia 45 MONDO:MONDO:0033480,MedGen:C4540400,OMIM:617769,Orphanet:589527 1 1 1.0000 condition_record_support_limited 20 0 1 Spinocerebellar_ataxia_45 482 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FH inherited_phaeochromocytoma_and_paraganglioma_excluding_nf1 Inherited phaeochromocytoma and paraganglioma excluding NF1 . 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_phaeochromocytoma_and_paraganglioma_excluding_NF1 482 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FH medgen_c1333600 Hereditary cancer MedGen:C1333600 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer 482 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control FGG mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGG mondo_mondo_0008438_medgen_c1866855_omim_182601_orphanet_100985 Hereditary spastic paraplegia 4 MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601,Orphanet:100985 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia_4 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGG fibrinogen_tokyo_2 FIBRINOGEN TOKYO 2 . 1 1 1.0000 condition_record_support_limited 20 0 1 FIBRINOGEN_TOKYO_2 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGG fibrinogen_haifa_1 FIBRINOGEN HAIFA 1 . 1 1 1.0000 condition_record_support_limited 20 0 1 FIBRINOGEN_HAIFA_1 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGG fibrinogen_asahi FIBRINOGEN ASAHI . 1 1 1.0000 condition_record_support_limited 20 0 1 FIBRINOGEN_ASAHI 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGG human_phenotype_ontology_hp_0034287_mesh_d000347_medgen_c0001733_orphanet_200418 Afibrinogenemia Human_Phenotype_Ontology:HP:0034287,MeSH:D000347,MedGen:C0001733,Orphanet:200418 1 1 1.0000 condition_record_support_limited 20 0 1 Afibrinogenemia 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGG human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_bleeding 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0003056_human_phenotype_ontology_hp_0006364_human_phenotype_ontology_hp_0009824_medgen_c1837406 Upper limb undergrowth Human_Phenotype_Ontology:HP:0003056,Human_Phenotype_Ontology:HP:0006364,Human_Phenotype_Ontology:HP:0009824,MedGen:C1837406 1 1 1.0000 condition_record_support_limited 20 0 1 Upper_limb_undergrowth 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0000122_mondo_mondo_0019636_medgen_c0266294_orphanet_93100 Unilateral renal agenesis Human_Phenotype_Ontology:HP:0000122,MONDO:MONDO:0019636,MedGen:C0266294,Orphanet:93100 1 1 1.0000 condition_record_support_limited 20 0 1 Unilateral_renal_agenesis 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0030359_mondo_mondo_0005097_medgen_c0149782 Squamous cell lung carcinoma Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782 1 1 1.0000 condition_record_support_limited 20 0 1 Squamous_cell_lung_carcinoma 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 mondo_mondo_0020513_medgen_c0334517_orphanet_99865 Spermatocytic seminoma MONDO:MONDO:0020513,MedGen:C0334517,Orphanet:99865 1 1 1.0000 condition_record_support_limited 20 0 1 Spermatocytic_seminoma 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0001422_human_phenotype_ontology_hp_0001518_human_phenotype_ontology_hp_0008849_human_phenotype_ontology_hp_0008919_human_phenotype_ontology_hp_0008927_medgen_c0235991 Small for gestational age Human_Phenotype_Ontology:HP:0001422,Human_Phenotype_Ontology:HP:0001518,Human_Phenotype_Ontology:HP:0008849,Human_Phenotype_Ontology:HP:0008919,Human_Phenotype_Ontology:HP:0008927,MedGen:C0235991 1 1 1.0000 condition_record_support_limited 20 0 1 Small_for_gestational_age 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 medgen_c1851152 Skeletal dysplasia with acanthosis nigricans MedGen:C1851152 1 1 1.0000 condition_record_support_limited 20 0 1 Skeletal_dysplasia_with_acanthosis_nigricans 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Skeletal dysplasia Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 1 1 1.0000 condition_record_support_limited 20 0 1 Skeletal_dysplasia 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0000773_human_phenotype_ontology_hp_0000899_human_phenotype_ontology_hp_0000908_human_phenotype_ontology_hp_0009750_medgen_c0426817 Short ribs Human_Phenotype_Ontology:HP:0000773,Human_Phenotype_Ontology:HP:0000899,Human_Phenotype_Ontology:HP:0000908,Human_Phenotype_Ontology:HP:0009750,MedGen:C0426817 1 1 1.0000 condition_record_support_limited 20 0 1 Short_ribs 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 mondo_mondo_0007042_medgen_c0175699_omim_101400_orphanet_794 Saethre-Chotzen syndrome MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400,Orphanet:794 1 1 1.0000 condition_record_support_limited 20 0 1 Saethre-Chotzen_syndrome 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0000774_human_phenotype_ontology_hp_0000909_human_phenotype_ontology_hp_0005252_human_phenotype_ontology_hp_0006588_medgen_c0426790 Narrow chest Human_Phenotype_Ontology:HP:0000774,Human_Phenotype_Ontology:HP:0000909,Human_Phenotype_Ontology:HP:0005252,Human_Phenotype_Ontology:HP:0006588,MedGen:C0426790 1 1 1.0000 condition_record_support_limited 20 0 1 Narrow_chest 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0003087_human_phenotype_ontology_hp_0005884_human_phenotype_ontology_hp_0006399_human_phenotype_ontology_hp_0009816_medgen_c0345371 Lower limb undergrowth Human_Phenotype_Ontology:HP:0003087,Human_Phenotype_Ontology:HP:0005884,Human_Phenotype_Ontology:HP:0006399,Human_Phenotype_Ontology:HP:0009816,MedGen:C0345371 1 1 1.0000 condition_record_support_limited 20 0 1 Lower_limb_undergrowth 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0003506_human_phenotype_ontology_hp_0008909_medgen_c2674171 Lethal short-limbed short stature Human_Phenotype_Ontology:HP:0003506,Human_Phenotype_Ontology:HP:0008909,MedGen:C2674171 1 1 1.0000 condition_record_support_limited 20 0 1 Lethal_short-limbed_short_stature 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 mondo_mondo_0007875_medgen_c0175778_omim_150250_orphanet_503 Larsen syndrome MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250,Orphanet:503 1 1 1.0000 condition_record_support_limited 20 0 1 Larsen_syndrome 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0009062_medgen_c3806604 Infantile axial hypotonia Human_Phenotype_Ontology:HP:0009062,MedGen:C3806604 1 1 1.0000 condition_record_support_limited 20 0 1 Infantile_axial_hypotonia 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0010566_mondo_mondo_0006499_medgen_c0018552 Hamartoma Human_Phenotype_Ontology:HP:0010566,MONDO:MONDO:0006499,MedGen:C0018552 1 1 1.0000 condition_record_support_limited 20 0 1 Hamartoma 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0001434_human_phenotype_ontology_hp_0001510_human_phenotype_ontology_hp_0001512_human_phenotype_ontology_hp_0001514_human_phenotype_ontology_hp_0001517_human_phenotype_ontology_hp_0001532_human_phenotype_ontology_hp_0008847_human_phenotype_ontology_hp_0008870_human_phenotype_ontology_hp_0008886_human_phenotype_ontology_hp_0008893_human_phenotype_ontology_hp_0008926_medgen_c0456070 Growth delay Human_Phenotype_Ontology:HP:0001434,Human_Phenotype_Ontology:HP:0001510,Human_Phenotype_Ontology:HP:0001512,Human_Phenotype_Ontology:HP:0001514,Human_Phenotype_Ontology:HP:0001517,Human_Phenotype_Ontology:HP:0001532,Human_Phenotype_Ontology:HP:0008847,Human_Phenotype_Ontology:HP:0008870,Human_Phenotype_Ontology:HP:0008886,Human_Phenotype_Ontology:HP:0008893,Human_Phenotype_Ontology:HP:0008926,MedGen:C0456070 1 1 1.0000 condition_record_support_limited 20 0 1 Growth_delay 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0002121_human_phenotype_ontology_hp_0007143_human_phenotype_ontology_hp_0011148_medgen_c4316903 Generalized non-motor (absence) seizure Human_Phenotype_Ontology:HP:0002121,Human_Phenotype_Ontology:HP:0007143,Human_Phenotype_Ontology:HP:0011148,MedGen:C4316903 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_non-motor_(absence)_seizure 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0002980_human_phenotype_ontology_hp_0004998_medgen_c1859461 Femoral bowing Human_Phenotype_Ontology:HP:0002980,Human_Phenotype_Ontology:HP:0004998,MedGen:C1859461 1 1 1.0000 condition_record_support_limited 20 0 1 Femoral_bowing 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0000324_human_phenotype_ontology_hp_0003775_medgen_c1306710 Facial asymmetry Human_Phenotype_Ontology:HP:0000324,Human_Phenotype_Ontology:HP:0003775,MedGen:C1306710 1 1 1.0000 condition_record_support_limited 20 0 1 Facial_asymmetry 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0001523_human_phenotype_ontology_hp_0003505_human_phenotype_ontology_hp_0003509_human_phenotype_ontology_hp_0008858_human_phenotype_ontology_hp_0008869_human_phenotype_ontology_hp_0008873_human_phenotype_ontology_hp_0008875_human_phenotype_ontology_hp_0008880_human_phenotype_ontology_hp_0008881_human_phenotype_ontology_hp_0008889_human_phenotype_ontology_hp_0008912_human_phenotype_ontology_hp_0008914_human_phenotype_ontology_hp_0008928_medgen_c1849937 Disproportionate short-limb short stature Human_Phenotype_Ontology:HP:0001523,Human_Phenotype_Ontology:HP:0003505,Human_Phenotype_Ontology:HP:0003509,Human_Phenotype_Ontology:HP:0008858,Human_Phenotype_Ontology:HP:0008869,Human_Phenotype_Ontology:HP:0008873,Human_Phenotype_Ontology:HP:0008875,Human_Phenotype_Ontology:HP:0008880,Human_Phenotype_Ontology:HP:0008881,Human_Phenotype_Ontology:HP:0008889,Human_Phenotype_Ontology:HP:0008912,Human_Phenotype_Ontology:HP:0008914,Human_Phenotype_Ontology:HP:0008928,MedGen:C1849937 1 1 1.0000 condition_record_support_limited 20 0 1 Disproportionate_short-limb_short_stature 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0004439_mondo_mondo_0007405_mesh_d003394_medgen_c0010273_omim_123500_orphanet_207 Crouzon syndrome Human_Phenotype_Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500,Orphanet:207 1 1 1.0000 condition_record_support_limited 20 0 1 Crouzon_syndrome 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 craniosynostosis_nonspecific Craniosynostosis, nonspecific . 1 1 1.0000 condition_record_support_limited 20 0 1 Craniosynostosis,_nonspecific 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0002675_human_phenotype_ontology_hp_0002685_human_phenotype_ontology_hp_0002739_human_phenotype_ontology_hp_0004440_human_phenotype_ontology_hp_0004441_medgen_c1856266 Coronal craniosynostosis Human_Phenotype_Ontology:HP:0002675,Human_Phenotype_Ontology:HP:0002685,Human_Phenotype_Ontology:HP:0002739,Human_Phenotype_Ontology:HP:0004440,Human_Phenotype_Ontology:HP:0004441,MedGen:C1856266 1 1 1.0000 condition_record_support_limited 20 0 1 Coronal_craniosynostosis 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0003865_medgen_c1859460 Bowed humerus Human_Phenotype_Ontology:HP:0003865,MedGen:C1859460 1 1 1.0000 condition_record_support_limited 20 0 1 Bowed_humerus 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0001591_human_phenotype_ontology_hp_0006626_human_phenotype_ontology_hp_0006664_medgen_c1865186 Bell-shaped thorax Human_Phenotype_Ontology:HP:0001591,Human_Phenotype_Ontology:HP:0006626,Human_Phenotype_Ontology:HP:0006664,MedGen:C1865186 1 1 1.0000 condition_record_support_limited 20 0 1 Bell-shaped_thorax 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR3 mondo_mondo_0020040_medgen_c2751824_orphanet_98085 46,XY disorder of sex development MONDO:MONDO:0020040,MedGen:C2751824,Orphanet:98085 1 1 1.0000 condition_record_support_limited 20 0 0 46,XY_disorder_of_sex_development 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0000260_medgen_c1866134 Wide anterior fontanel Human_Phenotype_Ontology:HP:0000260,MedGen:C1866134 1 1 1.0000 condition_record_support_limited 20 0 1 Wide_anterior_fontanel 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0000470_human_phenotype_ontology_hp_0005992_human_phenotype_ontology_hp_0200137_medgen_c0521525 Short neck Human_Phenotype_Ontology:HP:0000470,Human_Phenotype_Ontology:HP:0005992,Human_Phenotype_Ontology:HP:0200137,MedGen:C0521525 1 1 1.0000 condition_record_support_limited 20 0 1 Short_neck 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0000586_human_phenotype_ontology_hp_0002706_medgen_c1865244 Shallow orbits Human_Phenotype_Ontology:HP:0000586,Human_Phenotype_Ontology:HP:0002706,MedGen:C1865244 1 1 1.0000 condition_record_support_limited 20 0 1 Shallow_orbits 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 medgen_c1867564 SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY MedGen:C1867564 1 1 1.0000 condition_record_support_limited 20 0 1 SCAPHOCEPHALY_AND_AXENFELD-RIEGER_ANOMALY 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 mondo_mondo_0019661_medgen_c5438850_orphanet_93260 Pfeiffer syndrome type 3 MONDO:MONDO:0019661,MedGen:C5438850,Orphanet:93260 1 1 1.0000 condition_record_support_limited 20 0 1 Pfeiffer_syndrome_type_3 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 pemigatinib_resistance Pemigatinib resistance . 1 1 1.0000 condition_record_support_limited 20 0 1 Pemigatinib_resistance 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0000314_human_phenotype_ontology_hp_0000341_human_phenotype_ontology_hp_0004674_human_phenotype_ontology_hp_0004677_medgen_c1839758 Narrow forehead Human_Phenotype_Ontology:HP:0000314,Human_Phenotype_Ontology:HP:0000341,Human_Phenotype_Ontology:HP:0004674,Human_Phenotype_Ontology:HP:0004677,MedGen:C1839758 1 1 1.0000 condition_record_support_limited 20 0 1 Narrow_forehead 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0010952_medgen_c4023628 Mild fetal ventriculomegaly Human_Phenotype_Ontology:HP:0010952,MedGen:C4023628 1 1 1.0000 condition_record_support_limited 20 0 1 Mild_fetal_ventriculomegaly 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 mondo_mondo_0009143_medgen_c4552001_omim_224690_orphanet_2554 Meier-Gorlin syndrome 1 MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690,Orphanet:2554 1 1 1.0000 condition_record_support_limited 20 0 1 Meier-Gorlin_syndrome_1 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0000369_medgen_c0239234 Low-set ears Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234 1 1 1.0000 condition_record_support_limited 20 0 1 Low-set_ears 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0006796_human_phenotype_ontology_hp_0006945_human_phenotype_ontology_hp_0006956_human_phenotype_ontology_hp_0007173_medgen_c1856409 Lateral ventricle dilatation Human_Phenotype_Ontology:HP:0006796,Human_Phenotype_Ontology:HP:0006945,Human_Phenotype_Ontology:HP:0006956,Human_Phenotype_Ontology:HP:0007173,MedGen:C1856409 1 1 1.0000 condition_record_support_limited 20 0 1 Lateral_ventricle_dilatation 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0006804_human_phenotype_ontology_hp_0007103_medgen_c4020908 Hypointensity of cerebral white matter on MRI Human_Phenotype_Ontology:HP:0006804,Human_Phenotype_Ontology:HP:0007103,MedGen:C4020908 1 1 1.0000 condition_record_support_limited 20 0 1 Hypointensity_of_cerebral_white_matter_on_MRI 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Hypertelorism Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertelorism 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Hydrocephalus Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 1.0000 condition_record_support_limited 20 0 1 Hydrocephalus 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0000156_human_phenotype_ontology_hp_0000218_human_phenotype_ontology_hp_0009080_human_phenotype_ontology_hp_0009082_human_phenotype_ontology_hp_0009097_medgen_c0240635 High palate Human_Phenotype_Ontology:HP:0000156,Human_Phenotype_Ontology:HP:0000218,Human_Phenotype_Ontology:HP:0009080,Human_Phenotype_Ontology:HP:0009082,Human_Phenotype_Ontology:HP:0009097,MedGen:C0240635 1 1 1.0000 condition_record_support_limited 20 0 1 High_palate 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0000342_human_phenotype_ontology_hp_0000348_medgen_c0239676 High forehead Human_Phenotype_Ontology:HP:0000342,Human_Phenotype_Ontology:HP:0000348,MedGen:C0239676 1 1 1.0000 condition_record_support_limited 20 0 1 High_forehead 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0000247_human_phenotype_ontology_hp_0000249_human_phenotype_ontology_hp_0005469_medgen_c1837402 Flat occiput Human_Phenotype_Ontology:HP:0000247,Human_Phenotype_Ontology:HP:0000249,Human_Phenotype_Ontology:HP:0005469,MedGen:C1837402 1 1 1.0000 condition_record_support_limited 20 0 1 Flat_occiput 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0000324_human_phenotype_ontology_hp_0003775_medgen_c1306710 Facial asymmetry Human_Phenotype_Ontology:HP:0000324,Human_Phenotype_Ontology:HP:0003775,MedGen:C1306710 1 1 1.0000 condition_record_support_limited 20 0 1 Facial_asymmetry 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 fgfr2_related_syndromic_and_non_syndromic_craniosynostoses FGFR2-related syndromic and non-syndromic craniosynostoses . 1 1 1.0000 condition_record_support_limited 20 0 1 FGFR2-related_syndromic_and_non-syndromic_craniosynostoses 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0100257_mondo_mondo_0016576_medgen_c0265554_omim_ps183600_orphanet_2440 Ectrodactyly Human_Phenotype_Ontology:HP:0100257,MONDO:MONDO:0016576,MedGen:C0265554,OMIM:PS183600,Orphanet:2440 1 1 1.0000 condition_record_support_limited 20 0 0 Ectrodactyly 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0000494_human_phenotype_ontology_hp_0007714_human_phenotype_ontology_hp_0007908_medgen_c0423110 Downslanted palpebral fissures Human_Phenotype_Ontology:HP:0000494,Human_Phenotype_Ontology:HP:0007714,Human_Phenotype_Ontology:HP:0007908,MedGen:C0423110 1 1 1.0000 condition_record_support_limited 20 0 1 Downslanted_palpebral_fissures 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0004411_medgen_c0549397 Deviated nasal septum Human_Phenotype_Ontology:HP:0004411,MedGen:C0549397 1 1 1.0000 condition_record_support_limited 20 0 1 Deviated_nasal_septum 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 craniosynostosis_nonspecific Craniosynostosis, nonspecific . 1 1 1.0000 condition_record_support_limited 20 0 0 Craniosynostosis,_nonspecific 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0000267_medgen_c1860245 Cranial asymmetry Human_Phenotype_Ontology:HP:0000267,MedGen:C1860245 1 1 1.0000 condition_record_support_limited 20 0 1 Cranial_asymmetry 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0000452_medgen_c0584837 Choanal stenosis Human_Phenotype_Ontology:HP:0000452,MedGen:C0584837 1 1 1.0000 condition_record_support_limited 20 0 1 Choanal_stenosis 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 medgen_c4016346 CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL MedGen:C4016346 1 1 1.0000 condition_record_support_limited 20 0 1 CRANIOSYNOSTOSIS,_NONSYNDROMIC_UNICORONAL 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 medgen_c1867563 CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT MedGen:C1867563 1 1 1.0000 condition_record_support_limited 20 0 1 CRANIOSYNOSTOSIS,_NONCLASSIFIABLE_AUTOSOMAL_DOMINANT 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 craniofacial_skeletal_dermatologic_dysplasia CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA MedGen:CN042705 1 1 1.0000 condition_record_support_limited 20 0 1 CRANIOFACIAL-SKELETAL-DERMATOLOGIC_DYSPLASIA 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0000244_medgen_c1857484 Brachyturricephaly Human_Phenotype_Ontology:HP:0000244,MedGen:C1857484 1 1 1.0000 condition_record_support_limited 20 0 1 Brachyturricephaly 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Bilateral sensorineural hearing impairment Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 1.0000 condition_record_support_limited 20 0 0 Bilateral_sensorineural_hearing_impairment 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 mondo_mondo_0011921_medgen_c1842937_omim_607842 Aural atresia, congenital MONDO:MONDO:0011921,MedGen:C1842937,OMIM:607842 1 1 1.0000 condition_record_support_limited 20 0 1 Aural_atresia,_congenital 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0010668_human_phenotype_ontology_hp_0012369_medgen_c4023749 Abnormal zygomatic bone morphology Human_Phenotype_Ontology:HP:0010668,Human_Phenotype_Ontology:HP:0012369,MedGen:C4023749 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_zygomatic_bone_morphology 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0000932_human_phenotype_ontology_hp_0007306_medgen_c3280768 Abnormal posterior cranial fossa morphology Human_Phenotype_Ontology:HP:0000932,Human_Phenotype_Ontology:HP:0007306,MedGen:C3280768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_posterior_cranial_fossa_morphology 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR2 human_phenotype_ontology_hp_0000377_human_phenotype_ontology_hp_0000390_human_phenotype_ontology_hp_0000398_human_phenotype_ontology_hp_0004465_human_phenotype_ontology_hp_0008562_human_phenotype_ontology_hp_0008566_human_phenotype_ontology_hp_0008567_human_phenotype_ontology_hp_0008572_human_phenotype_ontology_hp_0008580_human_phenotype_ontology_hp_0008582_human_phenotype_ontology_hp_0008594_human_phenotype_ontology_hp_0008602_human_phenotype_ontology_hp_0040111_medgen_c0857379 Abnormal pinna morphology Human_Phenotype_Ontology:HP:0000377,Human_Phenotype_Ontology:HP:0000390,Human_Phenotype_Ontology:HP:0000398,Human_Phenotype_Ontology:HP:0004465,Human_Phenotype_Ontology:HP:0008562,Human_Phenotype_Ontology:HP:0008566,Human_Phenotype_Ontology:HP:0008567,Human_Phenotype_Ontology:HP:0008572,Human_Phenotype_Ontology:HP:0008580,Human_Phenotype_Ontology:HP:0008582,Human_Phenotype_Ontology:HP:0008594,Human_Phenotype_Ontology:HP:0008602,Human_Phenotype_Ontology:HP:0040111,MedGen:C0857379 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_pinna_morphology 128 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 human_phenotype_ontology_hp_0002507_mondo_mondo_0700419_medgen_c0751617_orphanet_220386 Semilobar holoprosencephaly Human_Phenotype_Ontology:HP:0002507,MONDO:MONDO:0700419,MedGen:C0751617,Orphanet:220386 1 1 1.0000 condition_record_support_limited 20 0 1 Semilobar_holoprosencephaly 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 human_phenotype_ontology_hp_0025171_mondo_mondo_0016736_medgen_c4331262_orphanet_251975 Rosette-forming glioneuronal tumor Human_Phenotype_Ontology:HP:0025171,MONDO:MONDO:0016736,MedGen:C4331262,Orphanet:251975 1 1 1.0000 condition_record_support_limited 20 0 1 Rosette-forming_glioneuronal_tumor 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 mondo_mondo_0016692_medgen_c1519086_orphanet_251615 Pilomyxoid astrocytoma MONDO:MONDO:0016692,MedGen:C1519086,Orphanet:251615 1 1 1.0000 condition_record_support_limited 20 0 1 Pilomyxoid_astrocytoma 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 mondo_mondo_0017219_medgen_c5393309_orphanet_280200 Microform holoprosencephaly MONDO:MONDO:0017219,MedGen:C5393309,Orphanet:280200 1 1 1.0000 condition_record_support_limited 20 0 0 Microform_holoprosencephaly 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 human_phenotype_ontology_hp_0006870_mondo_mondo_0019756_medgen_c0431362_orphanet_93924 Lobar holoprosencephaly Human_Phenotype_Ontology:HP:0006870,MONDO:MONDO:0019756,MedGen:C0431362,Orphanet:93924 1 1 1.0000 condition_record_support_limited 20 0 1 Lobar_holoprosencephaly 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 mondo_mondo_0018800_medgen_c0162809_orphanet_478 Hypogonadism with anosmia MONDO:MONDO:0018800,MedGen:C0162809,Orphanet:478 1 1 1.0000 condition_record_support_limited 20 0 0 Hypogonadism_with_anosmia 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cerebellar_hypoplasia 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 human_phenotype_ontology_hp_0001320_medgen_c1840379 Cerebellar vermis hypoplasia Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_vermis_hypoplasia 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGFR1 autosomal_recessive_fgfr1_related_disorders Autosomal recessive FGFR1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_FGFR1-related_disorders 222 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGF9 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene FGF8 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 18 low_record_burden_interpretation_limited low_record_burden_gene FGF4 mondo_mondo_0979242_medgen_c6012747_omim_621260 Thoracic dysostosis, isolated MONDO:MONDO:0979242,MedGen:C6012747,OMIM:621260 1 1 1.0000 condition_record_support_limited 20 0 0 Thoracic_dysostosis,_isolated 1 low_record_burden_interpretation_limited low_record_burden_gene FGF3 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 0 Hearing_impairment 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGF23 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 13 low_record_burden_interpretation_limited low_record_burden_gene FGF23 human_phenotype_ontology_hp_0004912_mondo_mondo_0024300_mesh_d063730_medgen_c1704375 Hypophosphatemic rickets Human_Phenotype_Ontology:HP:0004912,MONDO:MONDO:0024300,MeSH:D063730,MedGen:C1704375 1 1 1.0000 condition_record_support_limited 20 0 1 Hypophosphatemic_rickets 13 low_record_burden_interpretation_limited low_record_burden_gene FGF23 mondo_mondo_0100251_medgen_c1876187_orphanet_306661 Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:MONDO:0100251,MedGen:C1876187,Orphanet:306661 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_hyperphosphatemic_tumoral_calcinosis/hyperphosphatemic_hyperostosis_syndrome 13 low_record_burden_interpretation_limited low_record_burden_gene FGF17 medgen_c4016855 Hypogonadotropic hypogonadism 20 without anosmia MedGen:C4016855 1 1 1.0000 condition_record_support_limited 20 0 0 Hypogonadotropic_hypogonadism_20_without_anosmia 1 low_record_burden_interpretation_limited low_record_burden_gene FGF16 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene FGF16 fgf16_related_disorder FGF16-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 FGF16-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene FGF14 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 18 low_record_burden_interpretation_limited low_record_burden_gene FGF14 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebellar_ataxia 18 low_record_burden_interpretation_limited low_record_burden_gene FGF12 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 5 low_record_burden_interpretation_limited low_record_burden_gene FGF12 fgf12_related_disorder FGF12-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FGF12-related_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene FGF12 early_onset_epileptic_encephalopathy Early onset epileptic encephalopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 Early_onset_epileptic_encephalopathy 5 low_record_burden_interpretation_limited low_record_burden_gene FGF10 mondo_mondo_0007335_mesh_c566121_medgen_c1861537_omim_119530 Orofacial cleft 1 MONDO:MONDO:0007335,MeSH:C566121,MedGen:C1861537,OMIM:119530 1 1 1.0000 condition_record_support_limited 20 0 0 Orofacial_cleft_1 25 compact_adjacent_exon_block_opportunity local_compact_architecture FGF10 human_phenotype_ontology_hp_0030078_mondo_mondo_0005061_mesh_d000077192_medgen_c0152013 Lung adenocarcinoma Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013 1 1 1.0000 condition_record_support_limited 20 0 0 Lung_adenocarcinoma 25 compact_adjacent_exon_block_opportunity local_compact_architecture FGF10 mondo_mondo_0017014_medgen_c5679752_orphanet_264656 Interstitial lung disease specific to childhood MONDO:MONDO:0017014,MedGen:C5679752,Orphanet:264656 1 1 1.0000 condition_record_support_limited 20 0 0 Interstitial_lung_disease_specific_to_childhood 25 compact_adjacent_exon_block_opportunity local_compact_architecture FGD4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGD4 mondo_mondo_0008961_medgen_c1859198_omim_214400_orphanet_99948 Charcot-Marie-Tooth disease type 4A MONDO:MONDO:0008961,MedGen:C1859198,OMIM:214400,Orphanet:99948 1 1 1.0000 condition_record_support_limited 20 0 0 Charcot-Marie-Tooth_disease_type_4A 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGD1 human_phenotype_ontology_hp_0001561_human_phenotype_ontology_hp_0005098_mondo_mondo_0004585_medgen_c0020224 Polyhydramnios Human_Phenotype_Ontology:HP:0001561,Human_Phenotype_Ontology:HP:0005098,MONDO:MONDO:0004585,MedGen:C0020224 1 1 1.0000 condition_record_support_limited 20 0 0 Polyhydramnios 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGD1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGB fibrinogen_christchurch_2 FIBRINOGEN CHRISTCHURCH 2 . 1 1 1.0000 condition_record_support_limited 20 0 1 FIBRINOGEN_CHRISTCHURCH_2 17 low_record_burden_interpretation_limited low_record_burden_gene FGB human_phenotype_ontology_hp_0034287_mesh_d000347_medgen_c0001733_orphanet_200418 Afibrinogenemia Human_Phenotype_Ontology:HP:0034287,MeSH:D000347,MedGen:C0001733,Orphanet:200418 1 1 1.0000 condition_record_support_limited 20 0 1 Afibrinogenemia 17 low_record_burden_interpretation_limited low_record_burden_gene FGA mondo_mondo_0016638_medgen_c1859970_orphanet_248408 Familial hypodysfibrinogenemia MONDO:MONDO:0016638,MedGen:C1859970,Orphanet:248408 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_hypodysfibrinogenemia 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGA fibrinogen_dusart FIBRINOGEN DUSART . 1 1 1.0000 condition_record_support_limited 20 0 1 FIBRINOGEN_DUSART 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGA fibrinogen_detroit_1 FIBRINOGEN DETROIT 1 . 1 1 1.0000 condition_record_support_limited 20 0 1 FIBRINOGEN_DETROIT_1 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGA fibrinogen_canterbury FIBRINOGEN CANTERBURY . 1 1 1.0000 condition_record_support_limited 20 0 1 FIBRINOGEN_CANTERBURY 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGA fibrinogen_aarhus_1 FIBRINOGEN AARHUS 1 . 1 1 1.0000 condition_record_support_limited 20 0 1 FIBRINOGEN_AARHUS_1 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGA human_phenotype_ontology_hp_0002625_mesh_d020246_medgen_c0149871 Deep venous thrombosis Human_Phenotype_Ontology:HP:0002625,MeSH:D020246,MedGen:C0149871 1 1 1.0000 condition_record_support_limited 20 0 1 Deep_venous_thrombosis 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGA mondo_mondo_0009210_medgen_c0015499_omim_227400_orphanet_326 Congenital factor V deficiency MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_factor_V_deficiency 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGA human_phenotype_ontology_hp_0034287_mesh_d000347_medgen_c0001733_orphanet_200418 Afibrinogenemia Human_Phenotype_Ontology:HP:0034287,MeSH:D000347,MedGen:C0001733,Orphanet:200418 1 1 1.0000 condition_record_support_limited 20 0 1 Afibrinogenemia 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FGA human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_bleeding 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FFAR4 mondo_mondo_0014060_medgen_c3554593_omim_615147_orphanet_352718 Progressive retinal dystrophy due to retinol transport defect MONDO:MONDO:0014060,MedGen:C3554593,OMIM:615147,Orphanet:352718 1 1 1.0000 condition_record_support_limited 20 0 0 Progressive_retinal_dystrophy_due_to_retinol_transport_defect 1 low_record_burden_interpretation_limited low_record_burden_gene FFAR1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 1 low_record_burden_interpretation_limited low_record_burden_gene FEZF2 neurodevelopmental_phenotype Neurodevelopmental phenotype . 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_phenotype 5 low_record_burden_interpretation_limited low_record_burden_gene FEZF2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene FEZF2 fezf2_related_neurodevelopmental_condition FEZF2-related neurodevelopmental condition . 1 1 1.0000 condition_record_support_limited 20 0 0 FEZF2-related_neurodevelopmental_condition 5 low_record_burden_interpretation_limited low_record_burden_gene FERRY3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 19 low_record_burden_interpretation_limited low_record_burden_gene FERRY3 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 19 low_record_burden_interpretation_limited low_record_burden_gene FERRY3 c12orf4_related_disorder C12orf4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 C12orf4-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene FERRY3 human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Attention deficit hyperactivity disorder Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 1.0000 condition_record_support_limited 20 0 1 Attention_deficit_hyperactivity_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene FERMT3 mondo_mondo_0017570_medgen_c0272187_orphanet_2968 Leukocyte adhesion deficiency MONDO:MONDO:0017570,MedGen:C0272187,Orphanet:2968 1 1 1.0000 condition_record_support_limited 20 0 1 Leukocyte_adhesion_deficiency 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FERMT1 human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Abnormality of the skin Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_skin 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FEM1C condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene FEM1C mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene FEM1B mondo_mondo_0979245_medgen_c6012750_omim_621263 Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities MONDO:MONDO:0979245,MedGen:C6012750,OMIM:621263 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_behavioral,_ear,_and_skeletal_abnormalities 1 low_record_burden_interpretation_limited low_record_burden_gene FDXR mondo_mondo_0009861_medgen_c0031485_omim_261600_orphanet_716 Phenylketonuria MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716 1 1 1.0000 condition_record_support_limited 20 0 1 Phenylketonuria 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FDXR mondo_mondo_0034092_medgen_c5681321_orphanet_543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome MONDO:MONDO:0034092,MedGen:C5681321,Orphanet:543470 1 1 1.0000 condition_record_support_limited 20 0 1 Optic_atrophy-ataxia-peripheral_neuropathy-global_developmental_delay_syndrome 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FDXR fdxr_related_mitochondrial_disorder FDXR-related mitochondrial disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FDXR-related_mitochondrial_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FDX2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene FDX2 human_phenotype_ontology_hp_0003737_human_phenotype_ontology_hp_0008960_mondo_mondo_0009637_medgen_c0162670_orphanet_206966 Inborn mitochondrial myopathy Human_Phenotype_Ontology:HP:0003737,Human_Phenotype_Ontology:HP:0008960,MONDO:MONDO:0009637,MedGen:C0162670,Orphanet:206966 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_mitochondrial_myopathy 3 low_record_burden_interpretation_limited low_record_burden_gene FDX2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 3 low_record_burden_interpretation_limited low_record_burden_gene FDPS condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene FCN3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene FCN2 susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 1 low_record_burden_interpretation_limited low_record_burden_gene FCHO1 immunodeficiency_with_t_and_b_cell_lymphopenia Immunodeficiency with T and B cell lymphopenia . 1 1 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency_with_T_and_B_cell_lymphopenia 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FCHO1 fcho1_related_disorder FCHO1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 FCHO1-related_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXW7 mondo_mondo_0000594_medgen_c0524528_orphanet_168778 Pervasive developmental disorder MONDO:MONDO:0000594,MedGen:C0524528,Orphanet:168778 1 1 1.0000 condition_record_support_limited 20 0 1 Pervasive_developmental_disorder 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXW7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXW7 fbxw7_related_neurodevelopmental_disorder FBXW7-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 FBXW7-related_neurodevelopmental_disorder 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXW7 ebv_positive_nodal_t_and_nk_cell_lymphoma EBV-positive nodal T- and NK-cell lymphoma . 1 1 1.0000 condition_record_support_limited 20 0 0 EBV-positive_nodal_T-_and_NK-cell_lymphoma 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXW7 medgen_c0424605 Developmental delay MedGen:C0424605 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_delay 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXW7 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXO7 fbxo7_related_disorder FBXO7-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FBXO7-related_disorder 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXO38 mondo_mondo_0015352_mesh_c580044_medgen_c3711384_orphanet_139525 Distal hereditary motor neuropathy type 2 MONDO:MONDO:0015352,MeSH:C580044,MedGen:C3711384,Orphanet:139525 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_hereditary_motor_neuropathy_type_2 2 low_record_burden_interpretation_limited low_record_burden_gene FBXO32 omim_606604 OMIM: 606604 . 1 1 1.0000 condition_record_support_limited 20 0 0 OMIM:_606604 1 low_record_burden_interpretation_limited low_record_burden_gene FBXO31 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene FBXO31 mondo_mondo_0000396_medgen_c0338596 Spastic cerebral palsy MONDO:MONDO:0000396,MedGen:C0338596 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_cerebral_palsy 3 low_record_burden_interpretation_limited low_record_burden_gene FBXO31 human_phenotype_ontology_hp_0100028_mondo_mondo_0019854_medgen_c0266283_orphanet_95712 Ectopic thyroid Human_Phenotype_Ontology:HP:0100028,MONDO:MONDO:0019854,MedGen:C0266283,Orphanet:95712 1 1 1.0000 condition_record_support_limited 20 0 1 Ectopic_thyroid 3 low_record_burden_interpretation_limited low_record_burden_gene FBXO28 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 9 low_record_burden_interpretation_limited low_record_burden_gene FBXO22 condition_not_provided condition not provided MedGen:CN169374 1 1 1.0000 condition_record_support_limited 20 1 1 not_specified 4 low_record_burden_interpretation_limited low_record_burden_gene FBXO22 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene FBXO11 mondo_mondo_0016268_medgen_c5679804_orphanet_213726 Papillary carcinoma of the corpus uteri MONDO:MONDO:0016268,MedGen:C5679804,Orphanet:213726 1 1 1.0000 condition_record_support_limited 20 0 1 Papillary_carcinoma_of_the_corpus_uteri 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXO11 human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 1.0000 condition_record_support_limited 20 0 0 Obesity 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXO11 marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 1 1 1.0000 condition_record_support_limited 20 0 1 Marfanoid_habitus_and_intellectual_disability 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXO11 mondo_mondo_0013710_medgen_c1833477_omim_614350_orphanet_144 Lynch syndrome 5 MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144 1 1 1.0000 condition_record_support_limited 20 0 1 Lynch_syndrome_5 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXO11 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXO11 mesh_d003123_medgen_c0009405 Hereditary nonpolyposis colorectal neoplasms MeSH:D003123,MedGen:C0009405 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_nonpolyposis_colorectal_neoplasms 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXO11 human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Endometrial carcinoma Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 1 1 1.0000 condition_record_support_limited 20 0 1 Endometrial_carcinoma 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXO11 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_disorder 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXO11 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 145 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL5 mondo_mondo_0010431_medgen_c2749019_omim_300804_orphanet_2754 Joubert syndrome 10 MONDO:MONDO:0010431,MedGen:C2749019,OMIM:300804,Orphanet:2754 1 1 1.0000 condition_record_support_limited 20 0 1 Joubert_syndrome_10 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL5 human_phenotype_ontology_hp_0001197_medgen_c4025797 Abnormality of prenatal development or birth Human_Phenotype_Ontology:HP:0001197,MedGen:C4025797 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_prenatal_development_or_birth 266 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL4 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL4 mondo_mondo_0004675_medgen_c0162666 Mitochondrial encephalomyopathy MONDO:MONDO:0004675,MedGen:C0162666 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_encephalomyopathy 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL4 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBXL4 mondo_mondo_0026771_medgen_c5393312_omim_301044 Developmental and epileptic encephalopathy, 85, with or without midline brain defects MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_85,_with_or_without_midline_brain_defects 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBRSL1 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 1 low_record_burden_interpretation_limited low_record_burden_gene FBP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBP1 mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 Glycogen storage disease MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 1 1 1.0000 condition_record_support_limited 20 0 0 Glycogen_storage_disease 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBP1 medgen_c0019489 Deficiency of fructose-bisphosphatase MedGen:C0019489 1 1 1.0000 condition_record_support_limited 20 0 1 Deficiency_of_fructose-bisphosphatase 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FBN2 human_phenotype_ontology_hp_0003811_human_phenotype_ontology_hp_0003820_human_phenotype_ontology_hp_0003824_medgen_c0410916 Neonatal death Human_Phenotype_Ontology:HP:0003811,Human_Phenotype_Ontology:HP:0003820,Human_Phenotype_Ontology:HP:0003824,MedGen:C0410916 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_death 122 large_gene_or_donor_burden_stress_case donor_burden_stress FBN2 marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 1 1 1.0000 condition_record_support_limited 20 0 0 Marfanoid_habitus_and_intellectual_disability 122 large_gene_or_donor_burden_stress_case donor_burden_stress FBN2 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_akinesia_deformation_sequence_1 122 large_gene_or_donor_burden_stress_case donor_burden_stress FBN2 fbn2_related_disorders FBN2-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 FBN2-related_disorders 122 large_gene_or_donor_burden_stress_case donor_burden_stress FBN2 fbn2_related_disorder FBN2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FBN2-related_disorder 122 large_gene_or_donor_burden_stress_case donor_burden_stress FBN2 mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 Ehlers-Danlos syndrome MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 1 1 1.0000 condition_record_support_limited 20 0 0 Ehlers-Danlos_syndrome 122 large_gene_or_donor_burden_stress_case donor_burden_stress FBN2 human_phenotype_ontology_hp_0002637_mondo_mondo_0005299_medgen_c0917798 Cerebral ischemia Human_Phenotype_Ontology:HP:0002637,MONDO:MONDO:0005299,MedGen:C0917798 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_ischemia 122 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0000424_human_phenotype_ontology_hp_0000431_human_phenotype_ontology_hp_0004500_human_phenotype_ontology_hp_0004504_human_phenotype_ontology_hp_0004650_human_phenotype_ontology_hp_0200139_medgen_c1849367 Wide nasal bridge Human_Phenotype_Ontology:HP:0000424,Human_Phenotype_Ontology:HP:0000431,Human_Phenotype_Ontology:HP:0004500,Human_Phenotype_Ontology:HP:0004504,Human_Phenotype_Ontology:HP:0004650,Human_Phenotype_Ontology:HP:0200139,MedGen:C1849367 1 1 1.0000 condition_record_support_limited 20 0 1 Wide_nasal_bridge 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0000154_human_phenotype_ontology_hp_0000181_human_phenotype_ontology_hp_0002052_medgen_c0024433 Wide mouth Human_Phenotype_Ontology:HP:0000154,Human_Phenotype_Ontology:HP:0000181,Human_Phenotype_Ontology:HP:0002052,MedGen:C0024433 1 1 1.0000 condition_record_support_limited 20 0 1 Wide_mouth 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 thoracic_aortic_disease Thoracic aortic disease . 1 1 1.0000 condition_record_support_limited 20 0 0 Thoracic_aortic_disease 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 mondo_mondo_0013362_medgen_c3150939_omim_613680_orphanet_363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome MONDO:MONDO:0013362,MedGen:C3150939,OMIM:613680,Orphanet:363444 1 1 1.0000 condition_record_support_limited 20 0 1 THOC6-related_developmental_delay-microcephaly-facial_dysmorphism_syndrome 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 structural_eye_disease Structural eye disease . 1 1 1.0000 condition_record_support_limited 20 0 1 Structural_eye_disease 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0000257_human_phenotype_ontology_hp_0001364_human_phenotype_ontology_hp_0004482_medgen_c1849075 Relative macrocephaly Human_Phenotype_Ontology:HP:0000257,Human_Phenotype_Ontology:HP:0001364,Human_Phenotype_Ontology:HP:0004482,MedGen:C1849075 1 1 1.0000 condition_record_support_limited 20 0 1 Relative_macrocephaly 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0004927_medgen_c0428851 Pulmonary artery dilatation Human_Phenotype_Ontology:HP:0004927,MedGen:C0428851 1 1 1.0000 condition_record_support_limited 20 0 1 Pulmonary_artery_dilatation 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0003179_mondo_mondo_0008320_medgen_c0409495_omim_177050 Protrusio acetabuli Human_Phenotype_Ontology:HP:0003179,MONDO:MONDO:0008320,MedGen:C0409495,OMIM:177050 1 1 1.0000 condition_record_support_limited 20 0 1 Protrusio_acetabuli 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 mondo_mondo_0008265_medgen_c0887850_omim_174050_orphanet_2924 Polycystic liver disease 1 MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924 1 1 1.0000 condition_record_support_limited 20 0 1 Polycystic_liver_disease_1 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0008081_medgen_c1578482 Pes valgus Human_Phenotype_Ontology:HP:0008081,MedGen:C1578482 1 1 1.0000 condition_record_support_limited 20 0 1 Pes_valgus 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 mondo_mondo_0009300_medgen_c4551721_omim_233400_orphanet_2855_orphanet_642945 Perrault syndrome 1 MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400,Orphanet:2855,Orphanet:642945 1 1 1.0000 condition_record_support_limited 20 0 0 Perrault_syndrome_1 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0000767_human_phenotype_ontology_hp_0006613_human_phenotype_ontology_hp_0006617_mondo_mondo_0008213_medgen_c2051831_omim_169300 Pectus excavatum Human_Phenotype_Ontology:HP:0000767,Human_Phenotype_Ontology:HP:0006613,Human_Phenotype_Ontology:HP:0006617,MONDO:MONDO:0008213,MedGen:C2051831,OMIM:169300 1 1 1.0000 condition_record_support_limited 20 0 1 Pectus_excavatum 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 1.0000 condition_record_support_limited 20 0 1 Myopathy 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0005871_human_phenotype_ontology_hp_0006377_mondo_mondo_0000138_medgen_c0265290 Metaphyseal chondrodysplasia Human_Phenotype_Ontology:HP:0005871,Human_Phenotype_Ontology:HP:0006377,MONDO:MONDO:0000138,MedGen:C0265290 1 1 1.0000 condition_record_support_limited 20 0 1 Metaphyseal_chondrodysplasia 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0002861_human_phenotype_ontology_hp_0002887_human_phenotype_ontology_hp_0006777_human_phenotype_ontology_hp_0007474_mondo_mondo_0005105_mesh_d008545_medgen_c0025202 Melanoma Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202 1 1 1.0000 condition_record_support_limited 20 0 1 Melanoma 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 medgen_c4016052 MARFAN SYNDROME, SEVERE CLASSIC MedGen:C4016052 1 1 1.0000 condition_record_support_limited 20 0 0 MARFAN_SYNDROME,_SEVERE_CLASSIC 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 medgen_c4016053 MARFAN SYNDROME, MILD VARIABLE MedGen:C4016053 1 1 1.0000 condition_record_support_limited 20 0 1 MARFAN_SYNDROME,_MILD_VARIABLE 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 mondo_mondo_0018954_medgen_c2697932_omim_ps609192_orphanet_60030 Loeys-Dietz syndrome MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030 1 1 1.0000 condition_record_support_limited 20 0 1 Loeys-Dietz_syndrome 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0025168_medgen_c1273070 Left ventricular diastolic dysfunction Human_Phenotype_Ontology:HP:0025168,MedGen:C1273070 1 1 1.0000 condition_record_support_limited 20 0 1 Left_ventricular_diastolic_dysfunction 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0002140_mondo_mondo_1060198_medgen_c0948008_omim_601367 Ischemic stroke Human_Phenotype_Ontology:HP:0002140,MONDO:MONDO:1060198,MedGen:C0948008,OMIM:601367 1 1 1.0000 condition_record_support_limited 20 0 1 Ischemic_stroke 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0000023_medgen_c0019294 Inguinal hernia Human_Phenotype_Ontology:HP:0000023,MedGen:C0019294 1 1 1.0000 condition_record_support_limited 20 0 1 Inguinal_hernia 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 mondo_mondo_0000127_medgen_c3489726_omim_ps231050_orphanet_2623 Geleophysic dysplasia MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050,Orphanet:2623 1 1 1.0000 condition_record_support_limited 20 0 1 Geleophysic_dysplasia 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0000258_human_phenotype_ontology_hp_0000268_human_phenotype_ontology_hp_0005440_medgen_c0221358 Dolichocephaly Human_Phenotype_Ontology:HP:0000258,Human_Phenotype_Ontology:HP:0000268,Human_Phenotype_Ontology:HP:0005440,MedGen:C0221358 1 1 1.0000 condition_record_support_limited 20 0 1 Dolichocephaly 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0002622_medgen_c0012736 Dissecting aortic dilatation Human_Phenotype_Ontology:HP:0002622,MedGen:C0012736 1 1 1.0000 condition_record_support_limited 20 0 1 Dissecting_aortic_dilatation 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0005111_human_phenotype_ontology_hp_0005128_medgen_cn211363 Dilatation of the ascending aorta Human_Phenotype_Ontology:HP:0005111,Human_Phenotype_Ontology:HP:0005128,MedGen:CN211363 1 1 1.0000 condition_record_support_limited 20 0 1 Dilatation_of_the_ascending_aorta 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0000678_medgen_c0040433 Dental crowding Human_Phenotype_Ontology:HP:0000678,MedGen:C0040433 1 1 1.0000 condition_record_support_limited 20 0 1 Dental_crowding 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 connective_tissue_dysplasia Connective tissue dysplasia . 1 1 1.0000 condition_record_support_limited 20 0 1 Connective_tissue_dysplasia 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 medgen_c0559260 Congenital scoliosis MedGen:C0559260 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_scoliosis 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0000776_human_phenotype_ontology_hp_0006604_mondo_mondo_0005711_mesh_d065630_medgen_c0235833_omim_ps142340_orphanet_2140 Congenital diaphragmatic hernia Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_diaphragmatic_hernia 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 mondo_mondo_0007363_medgen_c0220668_omim_121050_orphanet_115 Congenital contractural arachnodactyly MONDO:MONDO:0007363,MedGen:C0220668,OMIM:121050,Orphanet:115 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_contractural_arachnodactyly 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 mondo_mondo_0011001_medgen_c4551804_omim_601144_orphanet_130 Brugada syndrome 1 MONDO:MONDO:0011001,MedGen:C4551804,OMIM:601144,Orphanet:130 1 1 1.0000 condition_record_support_limited 20 0 1 Brugada_syndrome_1 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0004970_medgen_c0856747 Ascending tubular aorta aneurysm Human_Phenotype_Ontology:HP:0004970,MedGen:C0856747 1 1 1.0000 condition_record_support_limited 20 0 1 Ascending_tubular_aorta_aneurysm 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0004933_medgen_c1836653 Ascending aortic dissection Human_Phenotype_Ontology:HP:0004933,MedGen:C1836653 1 1 1.0000 condition_record_support_limited 20 0 1 Ascending_aortic_dissection 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 mondo_mondo_0008822_medgen_c1859722_omim_208085_orphanet_2697 Arthrogryposis, renal dysfunction, and cholestasis 1 MONDO:MONDO:0008822,MedGen:C1859722,OMIM:208085,Orphanet:2697 1 1 1.0000 condition_record_support_limited 20 0 0 Arthrogryposis,_renal_dysfunction,_and_cholestasis_1 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0001724_medgen_c0265004 Aortic dilatation Human_Phenotype_Ontology:HP:0001724,MedGen:C0265004 1 1 1.0000 condition_record_support_limited 20 0 1 Aortic_dilatation 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 human_phenotype_ontology_hp_0004942_mondo_mondo_0005160_medgen_c0003486 Aortic aneurysm Human_Phenotype_Ontology:HP:0004942,MONDO:MONDO:0005160,MedGen:C0003486 1 1 1.0000 condition_record_support_limited 20 0 1 Aortic_aneurysm 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBN1 mondo_mondo_0007037_medgen_c0001080_omim_100800_orphanet_15 Achondroplasia MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800,Orphanet:15 1 1 1.0000 condition_record_support_limited 20 0 1 Achondroplasia 3554 large_gene_or_donor_burden_stress_case donor_burden_stress FBLN5 mondo_mondo_0012145_medgen_c1837187_omim_608895_orphanet_280598 Macular degeneration, age-related, 3 MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895,Orphanet:280598 1 1 1.0000 condition_record_support_limited 20 0 1 Macular_degeneration,_age-related,_3 7 low_record_burden_interpretation_limited low_record_burden_gene FBLN5 mondo_mondo_0017237_medgen_c5190690_orphanet_280598 Hereditary sensorimotor neuropathy with hyperelastic skin MONDO:MONDO:0017237,MedGen:C5190690,Orphanet:280598 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_sensorimotor_neuropathy_with_hyperelastic_skin 7 low_record_burden_interpretation_limited low_record_burden_gene FBLN5 mondo_mondo_0013751_medgen_c3280794_omim_614434_orphanet_90348 Cutis laxa, autosomal dominant 2 MONDO:MONDO:0013751,MedGen:C3280794,OMIM:614434,Orphanet:90348 1 1 1.0000 condition_record_support_limited 20 0 1 Cutis_laxa,_autosomal_dominant_2 7 low_record_burden_interpretation_limited low_record_burden_gene FBLN5 mondo_mondo_0019571_medgen_c0268350_orphanet_90348 Cutis laxa, autosomal dominant MONDO:MONDO:0019571,MedGen:C0268350,Orphanet:90348 1 1 1.0000 condition_record_support_limited 20 0 1 Cutis_laxa,_autosomal_dominant 7 low_record_burden_interpretation_limited low_record_burden_gene FAT4 mondo_mondo_0017813_medgen_c1832390_omim_ps601390_orphanet_314679 Van Maldergem syndrome MONDO:MONDO:0017813,MedGen:C1832390,OMIM:PS601390,Orphanet:314679 1 1 1.0000 condition_record_support_limited 20 0 1 Van_Maldergem_syndrome 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FAT4 autosomal_recessive_fat4_related_disorders Autosomal recessive FAT4-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_FAT4-related_disorders 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FAT2 mondo_mondo_0033480_medgen_c4540400_omim_617769_orphanet_589527 Spinocerebellar ataxia 45 MONDO:MONDO:0033480,MedGen:C4540400,OMIM:617769,Orphanet:589527 1 1 1.0000 condition_record_support_limited 20 0 0 Spinocerebellar_ataxia_45 1 low_record_burden_interpretation_limited low_record_burden_gene FAT1 mondo_mondo_0016073_medgen_c5679782_omim_ps309800_orphanet_202948 Syndromic microphthalmia MONDO:MONDO:0016073,MedGen:C5679782,OMIM:PS309800,Orphanet:202948 1 1 1.0000 condition_record_support_limited 20 0 0 Syndromic_microphthalmia 38 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FAT1 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 38 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FAT1 mondo_mondo_0009732_medgen_c0403399_omim_256300_orphanet_839 Finnish congenital nephrotic syndrome MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839 1 1 1.0000 condition_record_support_limited 20 0 0 Finnish_congenital_nephrotic_syndrome 38 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FAT1 mondo_mondo_0012518_medgen_c3552335_omim_610542_orphanet_353327_orphanet_590 Congenital myasthenic syndrome 12 MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_myasthenic_syndrome_12 38 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FASTKD2 fastkd2_related_disorder FASTKD2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FASTKD2-related_disorder 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FASTKD1 medgen_c3887942_omim_606689 Glaucoma 1, open angle, B MedGen:C3887942,OMIM:606689 1 1 1.0000 condition_record_support_limited 20 0 0 Glaucoma_1,_open_angle,_B 1 low_record_burden_interpretation_limited low_record_burden_gene FASN fasn_associated_disorder FASN-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 FASN-associated_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene FASLG condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene FASLG mondo_mondo_0008903_medgen_c0242379_omim_211980 Lung cancer MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 1 1 1.0000 condition_record_support_limited 20 0 1 Lung_cancer 6 low_record_burden_interpretation_limited low_record_burden_gene FASLG medgen_c1866120 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB MedGen:C1866120 1 1 1.0000 condition_record_support_limited 20 0 1 AUTOIMMUNE_LYMPHOPROLIFERATIVE_SYNDROME,_TYPE_IB 6 low_record_burden_interpretation_limited low_record_burden_gene FAS human_phenotype_ontology_hp_0001744_human_phenotype_ontology_hp_0001745_human_phenotype_ontology_hp_0006269_medgen_c0038002 Splenomegaly Human_Phenotype_Ontology:HP:0001744,Human_Phenotype_Ontology:HP:0001745,Human_Phenotype_Ontology:HP:0006269,MedGen:C0038002 1 1 1.0000 condition_record_support_limited 20 0 1 Splenomegaly 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAS mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_Immunodeficiency_Diseases 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAS fas_related_disorder FAS-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FAS-related_disorder 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAS autoimmune_lymphoproliferative_syndrome_with_defective_apoptosis Autoimmune lymphoproliferative syndrome with defective apoptosis . 1 1 1.0000 condition_record_support_limited 20 0 1 Autoimmune_lymphoproliferative_syndrome_with_defective_apoptosis 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAS mondo_mondo_0017979_medgen_cn301239_orphanet_3261 Autoimmune lymphoproliferative syndrome MONDO:MONDO:0017979,MedGen:CN301239,Orphanet:3261 1 1 1.0000 condition_record_support_limited 20 0 0 Autoimmune_lymphoproliferative_syndrome 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FARSB mondo_mondo_0014206_medgen_c4225400_omim_615486_orphanet_440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency MONDO:MONDO:0014206,MedGen:C4225400,OMIM:615486,Orphanet:440427 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_early-onset_pulmonary_alveolar_proteinosis_due_to_MARS_deficiency 13 low_record_burden_interpretation_limited low_record_burden_gene FARS2 mondo_mondo_0004675_medgen_c0162666 Mitochondrial encephalomyopathy MONDO:MONDO:0004675,MedGen:C0162666 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_encephalomyopathy 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FARS2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FARS2 mondo_mondo_0007086_medgen_c5882663_omim_104200_orphanet_63_orphanet_88918 Autosomal dominant Alport syndrome MONDO:MONDO:0007086,MedGen:C5882663,OMIM:104200,Orphanet:63,Orphanet:88918 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_Alport_syndrome 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAR1 far1_related_neurodevelopmental_disorder FAR1-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FAR1-related_neurodevelopmental_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene FANCM human_phenotype_ontology_hp_0009919_mondo_mondo_0008380_mesh_d012175_medgen_c0035335_omim_180200_orphanet_790 Retinoblastoma Human_Phenotype_Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:790 1 1 1.0000 condition_record_support_limited 20 0 0 Retinoblastoma 201 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FANCM mondo_mondo_0018171_medgen_c0346180_omim_603737_orphanet_35807 Malignant germ cell tumor of ovary MONDO:MONDO:0018171,MedGen:C0346180,OMIM:603737,Orphanet:35807 1 1 1.0000 condition_record_support_limited 20 0 1 Malignant_germ_cell_tumor_of_ovary 201 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FANCM medgen_c5681167_orphanet_399775 Male infertility with spermatogenesis disorder MedGen:C5681167,Orphanet:399775 1 1 1.0000 condition_record_support_limited 20 0 1 Male_infertility_with_spermatogenesis_disorder 201 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FANCM medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 1 1 1.0000 condition_record_support_limited 20 0 1 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 201 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FANCM human_phenotype_ontology_hp_0006716_medgen_c4024989 Hereditary nonpolyposis colorectal carcinoma Human_Phenotype_Ontology:HP:0006716,MedGen:C4024989 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_nonpolyposis_colorectal_carcinoma 201 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FANCM mondo_mondo_0009215_medgen_c3469521_omim_227650_orphanet_84 Fanconi anemia complementation group A MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84 1 1 1.0000 condition_record_support_limited 20 0 1 Fanconi_anemia_complementation_group_A 201 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FANCM human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Azoospermia Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 1.0000 condition_record_support_limited 20 0 1 Azoospermia 201 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture FANCL mondo_mondo_0008642_medgen_c4225671_omim_192350_orphanet_887 VATER association MONDO:MONDO:0008642,MedGen:C4225671,OMIM:192350,Orphanet:887 1 1 1.0000 condition_record_support_limited 20 0 1 VATER_association 120 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCL mondo_mondo_0010752_medgen_c2931228_omim_314390_orphanet_3412 VACTERL association, X-linked, with or without hydrocephalus MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390,Orphanet:3412 1 1 1.0000 condition_record_support_limited 20 0 1 VACTERL_association,_X-linked,_with_or_without_hydrocephalus 120 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCL mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 120 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCL mondo_mondo_0009215_medgen_c3469521_omim_227650_orphanet_84 Fanconi anemia complementation group A MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84 1 1 1.0000 condition_record_support_limited 20 0 0 Fanconi_anemia_complementation_group_A 120 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCL fancl_related_disorder FANCL-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 FANCL-related_disorder 120 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCI mondo_mondo_0008758_medgen_c0205710_omim_203700_orphanet_726 Progressive sclerosing poliodystrophy MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_sclerosing_poliodystrophy 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCI human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 1 1 1.0000 condition_record_support_limited 20 0 1 Gastric_cancer 284 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCG mondo_mondo_0019828_medgen_c4053775_orphanet_95496 Pituitary stalk interruption syndrome MONDO:MONDO:0019828,MedGen:C4053775,Orphanet:95496 1 1 1.0000 condition_record_support_limited 20 0 1 Pituitary_stalk_interruption_syndrome 213 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCG monogenic_short_statue Monogenic short statue . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_short_statue 213 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCG mondo_mondo_0005192_medgen_c0235974_orphanet_1333_orphanet_217074 Carcinoma of pancreas MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074 1 1 1.0000 condition_record_support_limited 20 0 0 Carcinoma_of_pancreas 213 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCG human_phenotype_ontology_hp_0001871_human_phenotype_ontology_hp_0003135_medgen_c0850715 Abnormality of blood and blood-forming tissues Human_Phenotype_Ontology:HP:0001871,Human_Phenotype_Ontology:HP:0003135,MedGen:C0850715 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_blood_and_blood-forming_tissues 213 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCD2OS mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 72 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCD2OS fancd2_related_disorder FANCD2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FANCD2-related_disorder 72 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCD2 pigmentary_skin_disorders Pigmentary skin disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Pigmentary_skin_disorders 279 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCD2 monogenic_short_statue Monogenic short statue . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_short_statue 279 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCD2 mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_cancer_of_breast 279 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCD2 human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Acute myeloid leukemia Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_myeloid_leukemia 279 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCC mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 1 1 1.0000 condition_record_support_limited 20 0 1 Carcinoma_of_colon 301 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCB mondo_mondo_0024772_medgen_c5676881_omim_301076 Intellectual developmental disorder, X-linked, syndromic, Pilorge type MONDO:MONDO:0024772,MedGen:C5676881,OMIM:301076 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder,_X-linked,_syndromic,_Pilorge_type 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCA mondo_mondo_0019828_medgen_c4053775_orphanet_95496 Pituitary stalk interruption syndrome MONDO:MONDO:0019828,MedGen:C4053775,Orphanet:95496 1 1 1.0000 condition_record_support_limited 20 0 1 Pituitary_stalk_interruption_syndrome 955 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCA human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 955 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCA human_phenotype_ontology_hp_0003006_human_phenotype_ontology_hp_0006738_mondo_mondo_0005072_mesh_d009447_medgen_c0027819_orphanet_635 Neuroblastoma Human_Phenotype_Ontology:HP:0003006,Human_Phenotype_Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635 1 1 1.0000 condition_record_support_limited 20 0 1 Neuroblastoma 955 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 955 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FANCA mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer-predisposing_syndrome 955 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAN1 mondo_mondo_0001106_medgen_c0035078 Kidney failure MONDO:MONDO:0001106,MedGen:C0035078 1 1 1.0000 condition_record_support_limited 20 0 1 Kidney_failure 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAM98C mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene FAM98C mondo_mondo_0013127_medgen_c0036069_omim_613091_orphanet_474_orphanet_93269_orphanet_93270_orphanet_93271 Asphyxiating thoracic dystrophy 3 MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271 1 1 1.0000 condition_record_support_limited 20 0 1 Asphyxiating_thoracic_dystrophy_3 1 low_record_burden_interpretation_limited low_record_burden_gene FAM83H condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene FAM50A mondo_mondo_0019181_medgen_c3501611_omim_ps309530_orphanet_777 Non-syndromic X-linked intellectual disability MONDO:MONDO:0019181,MedGen:C3501611,OMIM:PS309530,Orphanet:777 1 1 1.0000 condition_record_support_limited 20 0 0 Non-syndromic_X-linked_intellectual_disability 5 low_record_burden_interpretation_limited low_record_burden_gene FAM50A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 5 low_record_burden_interpretation_limited low_record_burden_gene FAM50A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 5 low_record_burden_interpretation_limited low_record_burden_gene FAM222A human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 1 low_record_burden_interpretation_limited low_record_burden_gene FAM20C ketotic_hypoglycaemia ketotic hypoglycaemia . 1 1 1.0000 condition_record_support_limited 20 0 0 ketotic_hypoglycaemia 27 compact_adjacent_exon_block_opportunity local_compact_architecture FAM20C severe_brain_malformation Severe brain malformation . 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_brain_malformation 27 compact_adjacent_exon_block_opportunity local_compact_architecture FAM20C human_phenotype_ontology_hp_0003811_human_phenotype_ontology_hp_0003820_human_phenotype_ontology_hp_0003824_medgen_c0410916 Neonatal death Human_Phenotype_Ontology:HP:0003811,Human_Phenotype_Ontology:HP:0003820,Human_Phenotype_Ontology:HP:0003824,MedGen:C0410916 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_death 27 compact_adjacent_exon_block_opportunity local_compact_architecture FAM20C human_phenotype_ontology_hp_0002539_human_phenotype_ontology_hp_0007139_mondo_mondo_0017094_medgen_c0431380_orphanet_268950 Cortical dysplasia Human_Phenotype_Ontology:HP:0002539,Human_Phenotype_Ontology:HP:0007139,MONDO:MONDO:0017094,MedGen:C0431380,Orphanet:268950 1 1 1.0000 condition_record_support_limited 20 0 1 Cortical_dysplasia 27 compact_adjacent_exon_block_opportunity local_compact_architecture FAM20C human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 27 compact_adjacent_exon_block_opportunity local_compact_architecture FAM20A fam20a_related_disorder FAM20A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FAM20A-related_disorder 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAM186B human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Nephronophthisis Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 1 1 1.0000 condition_record_support_limited 20 0 0 Nephronophthisis 1 low_record_burden_interpretation_limited low_record_burden_gene FAM177A1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene FAM177A1 mild_obesity Mild obesity MedGen:CN228310 1 1 1.0000 condition_record_support_limited 20 0 1 Mild_obesity 6 low_record_burden_interpretation_limited low_record_burden_gene FAM177A1 human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 6 low_record_burden_interpretation_limited low_record_burden_gene FAM177A1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 6 low_record_burden_interpretation_limited low_record_burden_gene FAM177A1 human_phenotype_ontology_hp_0000258_human_phenotype_ontology_hp_0000268_human_phenotype_ontology_hp_0005440_medgen_c0221358 Dolichocephaly Human_Phenotype_Ontology:HP:0000258,Human_Phenotype_Ontology:HP:0000268,Human_Phenotype_Ontology:HP:0005440,MedGen:C0221358 1 1 1.0000 condition_record_support_limited 20 0 1 Dolichocephaly 6 low_record_burden_interpretation_limited low_record_burden_gene FAM171A2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene FAM171A2 mondo_mondo_0013866_medgen_c3539123_omim_614706_orphanet_314629_orphanet_79262 Neuronal ceroid lipofuscinosis 11 MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706,Orphanet:314629,Orphanet:79262 1 1 1.0000 condition_record_support_limited 20 0 1 Neuronal_ceroid_lipofuscinosis_11 1 low_record_burden_interpretation_limited low_record_burden_gene FAM171A2 mondo_mondo_0011842_medgen_c1843792_omim_607485_orphanet_100070_orphanet_282 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485,Orphanet:100070,Orphanet:282 1 1 1.0000 condition_record_support_limited 20 0 1 GRN-related_frontotemporal_lobar_degeneration_with_Tdp43_inclusions 1 low_record_burden_interpretation_limited low_record_burden_gene FAM167A mondo_mondo_0013242_medgen_c3150618_omim_613375_orphanet_552 Maturity-onset diabetes of the young type 11 MONDO:MONDO:0013242,MedGen:C3150618,OMIM:613375,Orphanet:552 1 1 1.0000 condition_record_support_limited 20 0 0 Maturity-onset_diabetes_of_the_young_type_11 1 low_record_burden_interpretation_limited low_record_burden_gene FAM161A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAM161A fam161a_related_disorder FAM161A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FAM161A-related_disorder 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAM161A human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy 188 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAM149B1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene FAM149B1 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 1 1 1.0000 condition_record_support_limited 20 0 1 Joubert_syndrome 10 low_record_burden_interpretation_limited low_record_burden_gene FAM136A mondo_mondo_0007972_medgen_c0025281_omim_156000 Meniere disease MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000 1 1 1.0000 condition_record_support_limited 20 0 0 Meniere_disease 1 low_record_burden_interpretation_limited low_record_burden_gene FAM131B condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene FAM131B human_phenotype_ontology_hp_0002486_human_phenotype_ontology_hp_0003632_human_phenotype_ontology_hp_0003754_human_phenotype_ontology_hp_0003792_medgen_c0700153 Myotonia Human_Phenotype_Ontology:HP:0002486,Human_Phenotype_Ontology:HP:0003632,Human_Phenotype_Ontology:HP:0003754,Human_Phenotype_Ontology:HP:0003792,MedGen:C0700153 1 1 1.0000 condition_record_support_limited 20 0 1 Myotonia 1 low_record_burden_interpretation_limited low_record_burden_gene FAM131B mondo_mondo_0009715_medgen_c0751360_omim_255700_orphanet_614 Congenital myotonia, autosomal recessive form MONDO:MONDO:0009715,MedGen:C0751360,OMIM:255700,Orphanet:614 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myotonia,_autosomal_recessive_form 1 low_record_burden_interpretation_limited low_record_burden_gene FAM131B mondo_mondo_0008055_medgen_c2936781_omim_160800_orphanet_614 Congenital myotonia, autosomal dominant form MONDO:MONDO:0008055,MedGen:C2936781,OMIM:160800,Orphanet:614 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myotonia,_autosomal_dominant_form 1 low_record_burden_interpretation_limited low_record_burden_gene FAM120AOS human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 1.0000 condition_record_support_limited 20 0 1 Scoliosis 1 low_record_burden_interpretation_limited low_record_burden_gene FAM120AOS human_phenotype_ontology_hp_0000767_human_phenotype_ontology_hp_0006613_human_phenotype_ontology_hp_0006617_mondo_mondo_0008213_medgen_c2051831_omim_169300 Pectus excavatum Human_Phenotype_Ontology:HP:0000767,Human_Phenotype_Ontology:HP:0006613,Human_Phenotype_Ontology:HP:0006617,MONDO:MONDO:0008213,MedGen:C2051831,OMIM:169300 1 1 1.0000 condition_record_support_limited 20 0 1 Pectus_excavatum 1 low_record_burden_interpretation_limited low_record_burden_gene FAM120AOS human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 1 low_record_burden_interpretation_limited low_record_burden_gene FAM120AOS hyperactive_airways Hyperactive airways MedGen:CN228273 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperactive_airways 1 low_record_burden_interpretation_limited low_record_burden_gene FAM120AOS human_phenotype_ontology_hp_0002020_human_phenotype_ontology_hp_0004793_medgen_c4317146 Gastroesophageal reflux Human_Phenotype_Ontology:HP:0002020,Human_Phenotype_Ontology:HP:0004793,MedGen:C4317146 1 1 1.0000 condition_record_support_limited 20 0 1 Gastroesophageal_reflux 1 low_record_burden_interpretation_limited low_record_burden_gene FAM120AOS human_phenotype_ontology_hp_0000973_mondo_mondo_0016175_medgen_c0010495_orphanet_209 Cutis laxa Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209 1 1 1.0000 condition_record_support_limited 20 0 1 Cutis_laxa 1 low_record_burden_interpretation_limited low_record_burden_gene FAM120AOS human_phenotype_ontology_hp_0000280_human_phenotype_ontology_hp_0000281_human_phenotype_ontology_hp_0004640_medgen_c1845847 Coarse facial features Human_Phenotype_Ontology:HP:0000280,Human_Phenotype_Ontology:HP:0000281,Human_Phenotype_Ontology:HP:0004640,MedGen:C1845847 1 1 1.0000 condition_record_support_limited 20 0 1 Coarse_facial_features 1 low_record_burden_interpretation_limited low_record_burden_gene FAM120AOS human_phenotype_ontology_hp_0006528_medgen_c0746102 Chronic lung disease Human_Phenotype_Ontology:HP:0006528,MedGen:C0746102 1 1 1.0000 condition_record_support_limited 20 0 1 Chronic_lung_disease 1 low_record_burden_interpretation_limited low_record_burden_gene FAM120AOS human_phenotype_ontology_hp_0008686_human_phenotype_ontology_hp_0008689_medgen_c0431663 Bilateral cryptorchidism Human_Phenotype_Ontology:HP:0008686,Human_Phenotype_Ontology:HP:0008689,MedGen:C0431663 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_cryptorchidism 1 low_record_burden_interpretation_limited low_record_burden_gene FAM111A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 7 low_record_burden_interpretation_limited low_record_burden_gene FAHD1 mondo_mondo_0054726_medgen_c4540179_omim_617706 Spermatogenic failure 22 MONDO:MONDO:0054726,MedGen:C4540179,OMIM:617706 1 1 1.0000 condition_record_support_limited 20 0 1 Spermatogenic_failure_22 5 low_record_burden_interpretation_limited low_record_burden_gene FAHD1 human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Azoospermia Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 1.0000 condition_record_support_limited 20 0 0 Azoospermia 5 low_record_burden_interpretation_limited low_record_burden_gene FAH mondo_mondo_0010160_medgen_c0268487_omim_276600_orphanet_28378 Tyrosinemia type II MONDO:MONDO:0010160,MedGen:C0268487,OMIM:276600,Orphanet:28378 1 1 1.0000 condition_record_support_limited 20 0 1 Tyrosinemia_type_II 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAH mondo_mondo_0010158_medgen_c1848724_omim_276200 T-substance anomaly MONDO:MONDO:0010158,MedGen:C1848724,OMIM:276200 1 1 1.0000 condition_record_support_limited 20 0 1 T-substance_anomaly 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAH mondo_mondo_0009562_medgen_c4048196_omim_248510_orphanet_118 Beta-D-mannosidosis MONDO:MONDO:0009562,MedGen:C4048196,OMIM:248510,Orphanet:118 1 1 1.0000 condition_record_support_limited 20 0 1 Beta-D-mannosidosis 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture FAAH2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene FAAH2 meckel_like_syndrome Meckel-like syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 Meckel-like_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene FAAH mondo_mondo_0011685_medgen_c1847831_omim_606581 Polysubstance abuse, susceptibility to MONDO:MONDO:0011685,MedGen:C1847831,OMIM:606581 1 1 1.0000 condition_record_support_limited 20 0 0 Polysubstance_abuse,_susceptibility_to 1 low_record_burden_interpretation_limited low_record_burden_gene FA2H human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 1.0000 condition_record_support_limited 20 0 1 Tip-toe_gait 63 compact_adjacent_exon_block_opportunity local_compact_architecture FA2H human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Cerebellar atrophy Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_atrophy 63 compact_adjacent_exon_block_opportunity local_compact_architecture F9 haemophilia_b haemophilia B . 1 1 1.0000 condition_record_support_limited 20 0 0 haemophilia_B 299 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F9 human_phenotype_ontology_hp_0011858_medgen_c4023159 Reduced factor IX activity Human_Phenotype_Ontology:HP:0011858,MedGen:C4023159 1 1 1.0000 condition_record_support_limited 20 0 0 Reduced_factor_IX_activity 299 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F9 mondo_mondo_0015716_medgen_c5679575_orphanet_169796 Moderately severe hemophilia B MONDO:MONDO:0015716,MedGen:C5679575,Orphanet:169796 1 1 1.0000 condition_record_support_limited 20 0 0 Moderately_severe_hemophilia_B 299 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F9 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 299 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F9 medgen_c4016497 HEMOPHILIA B BRANDENBURG MedGen:C4016497 1 1 1.0000 condition_record_support_limited 20 0 0 HEMOPHILIA_B_BRANDENBURG 299 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F8 human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombocytopenia 641 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture F8 mondo_mondo_0012582_medgen_c1970456_omim_610921_orphanet_440402 Interstitial lung disease due to ABCA3 deficiency MONDO:MONDO:0012582,MedGen:C1970456,OMIM:610921,Orphanet:440402 1 1 1.0000 condition_record_support_limited 20 0 1 Interstitial_lung_disease_due_to_ABCA3_deficiency 641 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture F8 mondo_mondo_0100240_medgen_c2584620_omim_ps188050_orphanet_217454 Hereditary thrombophilia MONDO:MONDO:0100240,MedGen:C2584620,OMIM:PS188050,Orphanet:217454 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_thrombophilia 641 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture F8 familial_aortopathy Familial aortopathy MedGen:CN078214 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_aortopathy 641 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture F8 factor_viii_okayama FACTOR VIII (OKAYAMA) . 1 1 1.0000 condition_record_support_limited 20 0 1 FACTOR_VIII_(OKAYAMA) 641 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture F8 factor_viii_east_hartford FACTOR VIII (EAST HARTFORD) . 1 1 1.0000 condition_record_support_limited 20 0 1 FACTOR_VIII_(EAST_HARTFORD) 641 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture F8 f8_related_disorders F8-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 F8-related_disorders 641 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture F7 medgen_c0214776 Factor VII Padua MedGen:C0214776 1 1 1.0000 condition_record_support_limited 20 0 1 Factor_VII_Padua 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F2 mondo_mondo_0005399_mesh_d054556_medgen_c1861172 Venous thromboembolism MONDO:MONDO:0005399,MeSH:D054556,MedGen:C1861172 1 1 1.0000 condition_record_support_limited 20 0 1 Venous_thromboembolism 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F2 thrombophilia_caused_by_f2_prothrombin_deficiency Thrombophilia caused by F2 prothrombin deficiency . 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombophilia_caused_by_F2_prothrombin_deficiency 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F2 dysprothrombinemia_prothrombin_himi_ii DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II . 1 1 1.0000 condition_record_support_limited 20 0 0 DYSPROTHROMBINEMIA_PROTHROMBIN_HIMI-II 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F2 medgen_c0272315 Coagulation factor deficiency syndrome MedGen:C0272315 1 1 1.0000 condition_record_support_limited 20 0 1 Coagulation_factor_deficiency_syndrome 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F2 human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_palsy 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F13B susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 16 low_record_burden_interpretation_limited low_record_burden_gene F13B mondo_mondo_0002241_medgen_c4316906 Factor XIII deficiency MONDO:MONDO:0002241,MedGen:C4316906 1 1 1.0000 condition_record_support_limited 20 0 1 Factor_XIII_deficiency 16 low_record_burden_interpretation_limited low_record_burden_gene F13B f13b_related_disorder F13B-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 F13B-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene F13B medgen_c0272315 Coagulation factor deficiency syndrome MedGen:C0272315 1 1 1.0000 condition_record_support_limited 20 0 1 Coagulation_factor_deficiency_syndrome 16 low_record_burden_interpretation_limited low_record_burden_gene F13B human_phenotype_ontology_hp_0009797_mondo_mondo_0006530_medgen_c0008373 Cholesteatoma Human_Phenotype_Ontology:HP:0009797,MONDO:MONDO:0006530,MedGen:C0008373 1 1 1.0000 condition_record_support_limited 20 0 0 Cholesteatoma 16 low_record_burden_interpretation_limited low_record_burden_gene F13A1 human_phenotype_ontology_hp_0002170_medgen_c0151699 Intracranial hemorrhage Human_Phenotype_Ontology:HP:0002170,MedGen:C0151699 1 1 1.0000 condition_record_support_limited 20 0 1 Intracranial_hemorrhage 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F13A1 mondo_mondo_0018029_mesh_d005177_medgen_c0015530_orphanet_331 Hereditary factor XIII deficiency disease MONDO:MONDO:0018029,MeSH:D005177,MedGen:C0015530,Orphanet:331 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_factor_XIII_deficiency_disease 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F12 human_phenotype_ontology_hp_0001025_mondo_mondo_0005492_medgen_c0042109 Urticaria Human_Phenotype_Ontology:HP:0001025,MONDO:MONDO:0005492,MedGen:C0042109 1 1 1.0000 condition_record_support_limited 20 0 1 Urticaria 19 low_record_burden_interpretation_limited low_record_burden_gene F12 human_phenotype_ontology_hp_0000822_human_phenotype_ontology_hp_0004949_human_phenotype_ontology_hp_0005126_mondo_mondo_0005044_medgen_c0020538 Hypertensive disorder Human_Phenotype_Ontology:HP:0000822,Human_Phenotype_Ontology:HP:0004949,Human_Phenotype_Ontology:HP:0005126,MONDO:MONDO:0005044,MedGen:C0020538 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertensive_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene F12 human_phenotype_ontology_hp_0002904_mondo_mondo_0024288_medgen_c0311468 Hyperbilirubinemia Human_Phenotype_Ontology:HP:0002904,MONDO:MONDO:0024288,MedGen:C0311468 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperbilirubinemia 19 low_record_burden_interpretation_limited low_record_burden_gene F12 mondo_mondo_0019623_medgen_c0019243_omim_ps106100_orphanet_91378 Hereditary angioneurotic edema MONDO:MONDO:0019623,MedGen:C0019243,OMIM:PS106100,Orphanet:91378 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_angioneurotic_edema 19 low_record_burden_interpretation_limited low_record_burden_gene F12 factor_xii_washington_d_c FACTOR XII (WASHINGTON D.C.) . 1 1 1.0000 condition_record_support_limited 20 0 0 FACTOR_XII_(WASHINGTON_D.C.) 19 low_record_burden_interpretation_limited low_record_burden_gene F12 factor_xii_locarno FACTOR XII (LOCARNO) . 1 1 1.0000 condition_record_support_limited 20 0 0 FACTOR_XII_(LOCARNO) 19 low_record_burden_interpretation_limited low_record_burden_gene F12 f12_related_disorder F12-related disorder MedGen:CN239389 1 1 1.0000 condition_record_support_limited 20 0 1 F12-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene F12 human_phenotype_ontology_hp_0100665_human_phenotype_ontology_hp_0100666_mondo_mondo_0010481_mesh_d000799_medgen_c0002994 Angioedema Human_Phenotype_Ontology:HP:0100665,Human_Phenotype_Ontology:HP:0100666,MONDO:MONDO:0010481,MeSH:D000799,MedGen:C0002994 1 1 1.0000 condition_record_support_limited 20 0 1 Angioedema 19 low_record_burden_interpretation_limited low_record_burden_gene F11 human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombocytopenia 216 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F11 mondo_mondo_0020587_medgen_c4321502 Factor XI deficiency MONDO:MONDO:0020587,MedGen:C4321502 1 1 1.0000 condition_record_support_limited 20 0 1 Factor_XI_deficiency 216 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F11 factor_xi Factor XI . 1 1 1.0000 condition_record_support_limited 20 0 1 Factor_XI 216 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F11 medgen_c0272315 Coagulation factor deficiency syndrome MedGen:C0272315 1 1 1.0000 condition_record_support_limited 20 0 1 Coagulation_factor_deficiency_syndrome 216 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F10 factor_x_deficiency_autosomal_dominant Factor x deficiency, autosomal dominant . 1 1 1.0000 condition_record_support_limited 20 0 0 Factor_x_deficiency,_autosomal_dominant 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture F10 human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_bleeding 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EZH2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EZH2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EZH2 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer-predisposing_syndrome 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EZH2 mondo_mondo_0021079_medgen_c1368871 Childhood neoplasm MONDO:MONDO:0021079,MedGen:C1368871 1 1 1.0000 condition_record_support_limited 20 0 1 Childhood_neoplasm 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EZH1 ezh1_related_disorder EZH1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 EZH1-related_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene EYS mondo_mondo_0018877_medgen_c1405854_orphanet_52427 Retinitis punctata albescens MONDO:MONDO:0018877,MedGen:C1405854,Orphanet:52427 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_punctata_albescens 1068 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EYS human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 1068 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EYS mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 1068 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EYS human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy 1068 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EYS human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_eye 1068 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EYA4 mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 Primary familial dilated cardiomyopathy MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_familial_dilated_cardiomyopathy 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA4 mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 1.0000 condition_record_support_limited 20 0 0 Nonsyndromic_genetic_hearing_loss 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA4 monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA4 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 0 Hearing_impairment 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA1 mondo_mondo_0010952_medgen_c1833213_omim_600886_orphanet_163 Hereditary hyperferritinemia with congenital cataracts MONDO:MONDO:0010952,MedGen:C1833213,OMIM:600886,Orphanet:163 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_hyperferritinemia_with_congenital_cataracts 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA1 mondo_mondo_0100309_medgen_c0004138_orphanet_183518 Hereditary ataxia MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_ataxia 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA1 human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 1.0000 condition_record_support_limited 20 0 1 Focal_segmental_glomerulosclerosis 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA1 human_phenotype_ontology_hp_0010958_mondo_mondo_0015986_medgen_c1609433_orphanet_1848 Bilateral renal agenesis Human_Phenotype_Ontology:HP:0010958,MONDO:MONDO:0015986,MedGen:C1609433,Orphanet:1848 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_renal_agenesis 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA1 medgen_c4016751 Anterior segment anomalies and cataract MedGen:C4016751 1 1 1.0000 condition_record_support_limited 20 0 0 Anterior_segment_anomalies_and_cataract 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA1 human_phenotype_ontology_hp_0025700_medgen_c0730379 Anhydramnios Human_Phenotype_Ontology:HP:0025700,MedGen:C0730379 1 1 1.0000 condition_record_support_limited 20 0 1 Anhydramnios 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EYA1 human_phenotype_ontology_hp_0000593_medgen_c3152182 Abnormal anterior chamber morphology Human_Phenotype_Ontology:HP:0000593,MedGen:C3152182 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_anterior_chamber_morphology 198 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXTL3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene EXT2 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer-predisposing_syndrome 221 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXT2 human_phenotype_ontology_hp_0002884_mondo_mondo_0018666_medgen_c0206624_orphanet_449 Hepatoblastoma Human_Phenotype_Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624,Orphanet:449 1 1 1.0000 condition_record_support_limited 20 0 0 Hepatoblastoma 221 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXT1 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 516 compact_adjacent_exon_block_opportunity local_compact_architecture EXT1 human_phenotype_ontology_hp_0100777_mondo_mondo_0002181_medgen_c1442903 Exostoses Human_Phenotype_Ontology:HP:0100777,MONDO:MONDO:0002181,MedGen:C1442903 1 1 1.0000 condition_record_support_limited 20 0 1 Exostoses 516 compact_adjacent_exon_block_opportunity local_compact_architecture EXT1 human_phenotype_ontology_hp_0000924_medgen_c4021790 Abnormality of the skeletal system Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_skeletal_system 516 compact_adjacent_exon_block_opportunity local_compact_architecture EXPH5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 15 low_record_burden_interpretation_limited low_record_burden_gene EXOSC9 mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 Pontoneocerebellar hypoplasia MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 1 1 1.0000 condition_record_support_limited 20 0 1 Pontoneocerebellar_hypoplasia 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXOSC9 mondo_mondo_0010465_medgen_c3275495_omim_300867_orphanet_2322 Kabuki syndrome 2 MONDO:MONDO:0010465,MedGen:C3275495,OMIM:300867,Orphanet:2322 1 1 1.0000 condition_record_support_limited 20 0 1 Kabuki_syndrome_2 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXOSC9 human_phenotype_ontology_hp_0002059_human_phenotype_ontology_hp_0002422_human_phenotype_ontology_hp_0006890_medgen_c0235946 Cerebral atrophy Human_Phenotype_Ontology:HP:0002059,Human_Phenotype_Ontology:HP:0002422,Human_Phenotype_Ontology:HP:0006890,MedGen:C0235946 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_atrophy 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EXOSC8 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia 2 low_record_burden_interpretation_limited low_record_burden_gene EXOSC8 mondo_mondo_0014485_medgen_c4015160_omim_616081_orphanet_2254 Pontocerebellar hypoplasia, type 1C MONDO:MONDO:0014485,MedGen:C4015160,OMIM:616081,Orphanet:2254 1 1 1.0000 condition_record_support_limited 20 0 0 Pontocerebellar_hypoplasia,_type_1C 2 low_record_burden_interpretation_limited low_record_burden_gene EXOSC5 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene EXOSC3 human_phenotype_ontology_hp_0008846_human_phenotype_ontology_hp_0008899_human_phenotype_ontology_hp_0008906_medgen_c1855843 Severe intrauterine growth retardation Human_Phenotype_Ontology:HP:0008846,Human_Phenotype_Ontology:HP:0008899,Human_Phenotype_Ontology:HP:0008906,MedGen:C1855843 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intrauterine_growth_retardation 50 compact_adjacent_exon_block_opportunity local_compact_architecture EXOSC3 human_phenotype_ontology_hp_0007277_medgen_c2673351 Paucity of anterior horn motor neurons Human_Phenotype_Ontology:HP:0007277,MedGen:C2673351 1 1 1.0000 condition_record_support_limited 20 0 1 Paucity_of_anterior_horn_motor_neurons 50 compact_adjacent_exon_block_opportunity local_compact_architecture EXOSC3 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 50 compact_adjacent_exon_block_opportunity local_compact_architecture EXOSC3 human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Lissencephaly Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 1 1 1.0000 condition_record_support_limited 20 0 1 Lissencephaly 50 compact_adjacent_exon_block_opportunity local_compact_architecture EXOSC3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 50 compact_adjacent_exon_block_opportunity local_compact_architecture EXOSC3 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 50 compact_adjacent_exon_block_opportunity local_compact_architecture EXOSC3 human_phenotype_ontology_hp_0012110_medgen_c1848529 Hypoplasia of the pons Human_Phenotype_Ontology:HP:0012110,MedGen:C1848529 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplasia_of_the_pons 50 compact_adjacent_exon_block_opportunity local_compact_architecture EXOSC3 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_akinesia_deformation_sequence_1 50 compact_adjacent_exon_block_opportunity local_compact_architecture EXOSC3 exosc3_related_disorder EXOSC3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 EXOSC3-related_disorder 50 compact_adjacent_exon_block_opportunity local_compact_architecture EXOSC3 mondo_mondo_0016396_medgen_c5442006_orphanet_2254 Congenital pontocerebellar hypoplasia type 1 MONDO:MONDO:0016396,MedGen:C5442006,Orphanet:2254 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_pontocerebellar_hypoplasia_type_1 50 compact_adjacent_exon_block_opportunity local_compact_architecture EXOSC3 mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 Congenital myopathy MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myopathy 50 compact_adjacent_exon_block_opportunity local_compact_architecture EXOSC3 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 50 compact_adjacent_exon_block_opportunity local_compact_architecture EXOSC3 human_phenotype_ontology_hp_0001317_medgen_c1866129 Abnormal cerebellum morphology Human_Phenotype_Ontology:HP:0001317,MedGen:C1866129 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cerebellum_morphology 50 compact_adjacent_exon_block_opportunity local_compact_architecture EXOSC2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene EXOSC1 mondo_mondo_0030261_medgen_c5543331_omim_619304 Pontocerebellar hypoplasia, type 1F MONDO:MONDO:0030261,MedGen:C5543331,OMIM:619304 1 1 1.0000 condition_record_support_limited 20 0 0 Pontocerebellar_hypoplasia,_type_1F 1 low_record_burden_interpretation_limited low_record_burden_gene EXOC8 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene EXOC7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 5 low_record_burden_interpretation_limited low_record_burden_gene EXOC4 mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 Meckel-Gruber syndrome MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 1 1 1.0000 condition_record_support_limited 20 0 0 Meckel-Gruber_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene EXOC3L2 meckel_like_syndrome Meckel-like syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 Meckel-like_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene EXOC3L2 mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 Meckel-Gruber syndrome MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 1 1 1.0000 condition_record_support_limited 20 0 1 Meckel-Gruber_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene EXOC3L2 exoc3l2_related_brain_malformations_and_or_renal_disease EXOC3L2-related brain malformations and/or renal disease . 1 1 1.0000 condition_record_support_limited 20 0 0 EXOC3L2-related_brain_malformations_and/or_renal_disease 3 low_record_burden_interpretation_limited low_record_burden_gene EXOC3L2 mondo_mondo_0975799_medgen_c5975390_omim_620943 Brain malformation renal syndrome MONDO:MONDO:0975799,MedGen:C5975390,OMIM:620943 1 1 1.0000 condition_record_support_limited 20 0 1 Brain_malformation_renal_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene EXOC2 mondo_mondo_0859141_medgen_c5543332_omim_619306 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia MONDO:MONDO:0859141,MedGen:C5543332,OMIM:619306 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_dysmorphic_facies_and_cerebellar_hypoplasia 1 low_record_burden_interpretation_limited low_record_burden_gene EXO1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene EVX2 mondo_mondo_0008513_medgen_c5574994_omim_186000_orphanet_295195 Synpolydactyly type 1 MONDO:MONDO:0008513,MedGen:C5574994,OMIM:186000,Orphanet:295195 1 1 1.0000 condition_record_support_limited 20 0 0 Synpolydactyly_type_1 1 low_record_burden_interpretation_limited low_record_burden_gene EVI2A human_phenotype_ontology_hp_0012209_mondo_mondo_0011908_medgen_c0349639_omim_607785_orphanet_86834 Juvenile myelomonocytic leukemia Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834 1 1 1.0000 condition_record_support_limited 20 0 1 Juvenile_myelomonocytic_leukemia 3 low_record_burden_interpretation_limited low_record_burden_gene EVI2A mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer-predisposing_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene EVI2A cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 3 low_record_burden_interpretation_limited low_record_burden_gene EVC evc_associated_disorder EVC-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 EVC-associated_disorder 320 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETV6 mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 Malignant lymphoma, large B-cell, diffuse MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 1 1 1.0000 condition_record_support_limited 20 0 0 Malignant_lymphoma,_large_B-cell,_diffuse 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETV6 mondo_mondo_0008748_medgen_c2931875_omim_203300_orphanet_231500_orphanet_79430 Hermansky-Pudlak syndrome 1 MONDO:MONDO:0008748,MedGen:C2931875,OMIM:203300,Orphanet:231500,Orphanet:79430 1 1 1.0000 condition_record_support_limited 20 0 1 Hermansky-Pudlak_syndrome_1 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETV6 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer-predisposing_syndrome 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETV6 human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_bleeding 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETV5 mondo_mondo_0002380_mesh_d009208_medgen_c0027070 Myoepithelial tumor MONDO:MONDO:0002380,MeSH:D009208,MedGen:C0027070 1 1 1.0000 condition_record_support_limited 20 0 0 Myoepithelial_tumor 1 low_record_burden_interpretation_limited low_record_burden_gene ETV4 mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_anomaly_of_kidney_and_urinary_tract 1 low_record_burden_interpretation_limited low_record_burden_gene ETS1 ets1_related_disorder ETS1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ETS1-related_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene ETS1 mondo_mondo_0007838_medgen_c0795841_omim_147791_orphanet_2308 11q partial monosomy syndrome MONDO:MONDO:0007838,MedGen:C0795841,OMIM:147791,Orphanet:2308 1 1 1.0000 condition_record_support_limited 20 0 0 11q_partial_monosomy_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene ETHE1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETFDH other_rare_neuromuscular_disorders Other rare neuromuscular disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Other_rare_neuromuscular_disorders 301 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ETFDH acyl_coa_dehydrogenase_deficiency_glutaric_acidemia_type_ii Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II . 1 1 1.0000 condition_record_support_limited 20 0 1 Acyl-CoA_dehydrogenase_deficiency,_glutaric_acidemia_type_II 301 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ESX1 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 1 low_record_burden_interpretation_limited low_record_burden_gene ESRRB monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 0 Monogenic_hearing_loss 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ESRRB esrrb_related_disorder ESRRB-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ESRRB-related_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ESR2 mondo_mondo_0032590_medgen_c4748626_omim_618187 Ovarian dysgenesis 8 MONDO:MONDO:0032590,MedGen:C4748626,OMIM:618187 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_dysgenesis_8 1 low_record_burden_interpretation_limited low_record_burden_gene ESR1 mondo_mondo_0008419_medgen_c2700406_omim_181800 Scoliosis, isolated, susceptibility to, 1 MONDO:MONDO:0008419,MedGen:C2700406,OMIM:181800 1 1 1.0000 condition_record_support_limited 20 0 1 Scoliosis,_isolated,_susceptibility_to,_1 6 low_record_burden_interpretation_limited low_record_burden_gene ESR1 medgen_c4016037 Estrogen receptor mutant, temperature-sensitive MedGen:C4016037 1 1 1.0000 condition_record_support_limited 20 0 0 Estrogen_receptor_mutant,_temperature-sensitive 6 low_record_burden_interpretation_limited low_record_burden_gene ESR1 mondo_mondo_0016044_medgen_c0158646_orphanet_199306 Cleft lip/palate MONDO:MONDO:0016044,MedGen:C0158646,Orphanet:199306 1 1 1.0000 condition_record_support_limited 20 0 1 Cleft_lip/palate 6 low_record_burden_interpretation_limited low_record_burden_gene ESR1 mondo_mondo_0032778_medgen_c5193121_omim_618484 Arthrogryposis multiplex congenita 3, myogenic type MONDO:MONDO:0032778,MedGen:C5193121,OMIM:618484 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis_multiplex_congenita_3,_myogenic_type 6 low_record_burden_interpretation_limited low_record_burden_gene ESPN mondo_mondo_0032841_medgen_c5231434_omim_618632 Usher syndrome, type 1M MONDO:MONDO:0032841,MedGen:C5231434,OMIM:618632 1 1 1.0000 condition_record_support_limited 20 0 1 Usher_syndrome,_type_1M 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ESPN mondo_mondo_0010168_medgen_c1568247_omim_276900_orphanet_231169_orphanet_886 Usher syndrome type 1 MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886 1 1 1.0000 condition_record_support_limited 20 0 1 Usher_syndrome_type_1 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ESPN human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ESPN mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ESPN medgen_c3502293 Deafness, autosomal recessive 36, without vestibular involvement MedGen:C3502293 1 1 1.0000 condition_record_support_limited 20 0 0 Deafness,_autosomal_recessive_36,_without_vestibular_involvement 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ESCO2 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 155 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERMAP scianna_blood_group_system_sc_1_2 SCIANNA BLOOD GROUP SYSTEM, SC:-1,-2 . 1 1 1.0000 condition_record_support_limited 20 0 0 SCIANNA_BLOOD_GROUP_SYSTEM,_SC:-1,-2 1 low_record_burden_interpretation_limited low_record_burden_gene ERLIN2 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERLIN1 mondo_mondo_0017593_medgen_c3468114_orphanet_300605 Juvenile amyotrophic lateral sclerosis MONDO:MONDO:0017593,MedGen:C3468114,Orphanet:300605 1 1 1.0000 condition_record_support_limited 20 0 0 Juvenile_amyotrophic_lateral_sclerosis 5 low_record_burden_interpretation_limited low_record_burden_gene ERLIN1 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia 5 low_record_burden_interpretation_limited low_record_burden_gene ERI1 human_phenotype_ontology_hp_0000122_mondo_mondo_0019636_medgen_c0266294_orphanet_93100 Unilateral renal agenesis Human_Phenotype_Ontology:HP:0000122,MONDO:MONDO:0019636,MedGen:C0266294,Orphanet:93100 1 1 1.0000 condition_record_support_limited 20 0 1 Unilateral_renal_agenesis 13 low_record_burden_interpretation_limited low_record_burden_gene ERI1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 13 low_record_burden_interpretation_limited low_record_burden_gene ERI1 eri1_associated_disorder ERI1-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ERI1-associated_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene ERI1 human_phenotype_ontology_hp_0000280_human_phenotype_ontology_hp_0000281_human_phenotype_ontology_hp_0004640_medgen_c1845847 Coarse facial features Human_Phenotype_Ontology:HP:0000280,Human_Phenotype_Ontology:HP:0000281,Human_Phenotype_Ontology:HP:0004640,MedGen:C1845847 1 1 1.0000 condition_record_support_limited 20 0 1 Coarse_facial_features 13 low_record_burden_interpretation_limited low_record_burden_gene ERI1 human_phenotype_ontology_hp_0001167_human_phenotype_ontology_hp_0003035_medgen_c2674737 Abnormal finger morphology Human_Phenotype_Ontology:HP:0001167,Human_Phenotype_Ontology:HP:0003035,MedGen:C2674737 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_finger_morphology 13 low_record_burden_interpretation_limited low_record_burden_gene ERGIC3 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene ERGIC2 mondo_mondo_0011911_medgen_c1843042_omim_607812_orphanet_50814 Craniolenticulosutural dysplasia MONDO:MONDO:0011911,MedGen:C1843042,OMIM:607812,Orphanet:50814 1 1 1.0000 condition_record_support_limited 20 0 0 Craniolenticulosutural_dysplasia 1 low_record_burden_interpretation_limited low_record_burden_gene ERGIC1 human_phenotype_ontology_hp_0001371_human_phenotype_ontology_hp_0001372_human_phenotype_ontology_hp_0001381_human_phenotype_ontology_hp_0005053_human_phenotype_ontology_hp_0005189_human_phenotype_ontology_hp_0005660_medgen_c0333068 Flexion contracture Human_Phenotype_Ontology:HP:0001371,Human_Phenotype_Ontology:HP:0001372,Human_Phenotype_Ontology:HP:0001381,Human_Phenotype_Ontology:HP:0005053,Human_Phenotype_Ontology:HP:0005189,Human_Phenotype_Ontology:HP:0005660,MedGen:C0333068 1 1 1.0000 condition_record_support_limited 20 0 0 Flexion_contracture 2 low_record_burden_interpretation_limited low_record_burden_gene ERGIC1 mondo_mondo_0008823_medgen_c5435650_omim_208100_orphanet_1143 Arthrogryposis multiplex congenita 2, neurogenic type MONDO:MONDO:0008823,MedGen:C5435650,OMIM:208100,Orphanet:1143 1 1 1.0000 condition_record_support_limited 20 0 0 Arthrogryposis_multiplex_congenita_2,_neurogenic_type 2 low_record_burden_interpretation_limited low_record_burden_gene ERF mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 Noonan syndrome MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 1 1 1.0000 condition_record_support_limited 20 0 1 Noonan_syndrome 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERF mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERF medgen_c0235820 Neonatal encephalopathy MedGen:C0235820 1 1 1.0000 condition_record_support_limited 20 0 0 Neonatal_encephalopathy 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERF common_craniosynostosis_syndromes Common craniosynostosis syndromes . 1 1 1.0000 condition_record_support_limited 20 0 0 Common_craniosynostosis_syndromes 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC8 ndufaf2_related_disorder NDUFAF2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 NDUFAF2-related_disorder 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC8 mondo_mondo_0100224_medgen_cn257533_omim_252010 Mitochondrial complex I deficiency, nuclear type 1 MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_I_deficiency,_nuclear_type_1 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC6L2 human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 1.0000 condition_record_support_limited 20 0 0 Thrombocytopenia 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC6L2 human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Premature ovarian insufficiency Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 1 1 1.0000 condition_record_support_limited 20 0 1 Premature_ovarian_insufficiency 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC6L2 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer-predisposing_syndrome 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC6L2 mondo_mondo_0100211_medgen_c5435698_omim_245590_orphanet_220465 Growth hormone insensitivity with immune dysregulation 1, autosomal recessive MONDO:MONDO:0100211,MedGen:C5435698,OMIM:245590,Orphanet:220465 1 1 1.0000 condition_record_support_limited 20 0 1 Growth_hormone_insensitivity_with_immune_dysregulation_1,_autosomal_recessive 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC6 medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 1 1 1.0000 condition_record_support_limited 20 0 0 Genetic_non-acquired_premature_ovarian_failure 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC6 autosomal_recessive_ercc6_related_disorders Autosomal recessive ERCC6-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_ERCC6-related_disorders 349 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC5 mondo_mondo_0016354_medgen_c4304411_orphanet_220295 Xeroderma pigmentosum-Cockayne syndrome complex MONDO:MONDO:0016354,MedGen:C4304411,Orphanet:220295 1 1 1.0000 condition_record_support_limited 20 0 0 Xeroderma_pigmentosum-Cockayne_syndrome_complex 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC5 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_paraplegia 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC5 human_phenotype_ontology_hp_0001271_human_phenotype_ontology_hp_0006941_human_phenotype_ontology_hp_0007287_mondo_mondo_0001824_medgen_c0152025 Polyneuropathy Human_Phenotype_Ontology:HP:0001271,Human_Phenotype_Ontology:HP:0006941,Human_Phenotype_Ontology:HP:0007287,MONDO:MONDO:0001824,MedGen:C0152025 1 1 1.0000 condition_record_support_limited 20 0 1 Polyneuropathy 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC5 human_phenotype_ontology_hp_0001761_medgen_c0728829 Pes cavus Human_Phenotype_Ontology:HP:0001761,MedGen:C0728829 1 1 1.0000 condition_record_support_limited 20 0 1 Pes_cavus 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC5 human_phenotype_ontology_hp_0000767_human_phenotype_ontology_hp_0006613_human_phenotype_ontology_hp_0006617_mondo_mondo_0008213_medgen_c2051831_omim_169300 Pectus excavatum Human_Phenotype_Ontology:HP:0000767,Human_Phenotype_Ontology:HP:0006613,Human_Phenotype_Ontology:HP:0006617,MONDO:MONDO:0008213,MedGen:C2051831,OMIM:169300 1 1 1.0000 condition_record_support_limited 20 0 1 Pectus_excavatum 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC5 human_phenotype_ontology_hp_0002884_mondo_mondo_0018666_medgen_c0206624_orphanet_449 Hepatoblastoma Human_Phenotype_Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624,Orphanet:449 1 1 1.0000 condition_record_support_limited 20 0 0 Hepatoblastoma 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC5 human_phenotype_ontology_hp_0001260_human_phenotype_ontology_hp_0002327_medgen_c0013362 Dysarthria Human_Phenotype_Ontology:HP:0001260,Human_Phenotype_Ontology:HP:0002327,MedGen:C0013362 1 1 1.0000 condition_record_support_limited 20 0 1 Dysarthria 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC5 human_phenotype_ontology_hp_0002128_human_phenotype_ontology_hp_0002129_human_phenotype_ontology_hp_0002302_human_phenotype_ontology_hp_0002337_human_phenotype_ontology_hp_0002441_human_phenotype_ontology_hp_0006972_human_phenotype_ontology_hp_0006998_human_phenotype_ontology_hp_0007211_human_phenotype_ontology_hp_0100543_medgen_c0338656 Cognitive impairment Human_Phenotype_Ontology:HP:0002128,Human_Phenotype_Ontology:HP:0002129,Human_Phenotype_Ontology:HP:0002302,Human_Phenotype_Ontology:HP:0002337,Human_Phenotype_Ontology:HP:0002441,Human_Phenotype_Ontology:HP:0006972,Human_Phenotype_Ontology:HP:0006998,Human_Phenotype_Ontology:HP:0007211,Human_Phenotype_Ontology:HP:0100543,MedGen:C0338656 1 1 1.0000 condition_record_support_limited 20 0 1 Cognitive_impairment 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC5 human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Cerebellar atrophy Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_atrophy 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC5 human_phenotype_ontology_hp_0001273_human_phenotype_ontology_hp_0007323_medgen_c1842581 Abnormal corpus callosum morphology Human_Phenotype_Ontology:HP:0001273,Human_Phenotype_Ontology:HP:0007323,MedGen:C1842581 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_corpus_callosum_morphology 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC4 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_ataxia 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC4 human_phenotype_ontology_hp_0004812_mondo_mondo_0020511_medgen_c0349636_orphanet_99860 Precursor B-cell acute lymphoblastic leukemia Human_Phenotype_Ontology:HP:0004812,MONDO:MONDO:0020511,MedGen:C0349636,Orphanet:99860 1 1 1.0000 condition_record_support_limited 20 0 1 Precursor_B-cell_acute_lymphoblastic_leukemia 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC4 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC4 mondo_mondo_0008310_medgen_c0033300_omim_176670_orphanet_740 Hutchinson-Gilford syndrome MONDO:MONDO:0008310,MedGen:C0033300,OMIM:176670,Orphanet:740 1 1 1.0000 condition_record_support_limited 20 0 1 Hutchinson-Gilford_syndrome 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC4 ercc4_related_disorder ERCC4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ERCC4-related_disorder 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC4 mondo_mondo_0015244_medgen_c5575375_omim_ps213200_orphanet_1172 Autosomal recessive cerebellar ataxia MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200,Orphanet:1172 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_cerebellar_ataxia 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC4 human_phenotype_ontology_hp_0001871_human_phenotype_ontology_hp_0003135_medgen_c0850715 Abnormality of blood and blood-forming tissues Human_Phenotype_Ontology:HP:0001871,Human_Phenotype_Ontology:HP:0003135,MedGen:C0850715 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_blood_and_blood-forming_tissues 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC3 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC3 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer-predisposing_syndrome 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC2 mondo_mondo_0019600_medgen_c0043346_omim_ps278700_orphanet_910 Xeroderma pigmentosum MONDO:MONDO:0019600,MedGen:C0043346,OMIM:PS278700,Orphanet:910 1 1 1.0000 condition_record_support_limited 20 0 1 Xeroderma_pigmentosum 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC2 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 1 Ovarian_cancer 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC2 medgen_c2826055 Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified MedGen:C2826055 1 1 1.0000 condition_record_support_limited 20 0 1 Mixed_Phenotype_Acute_Leukemia,_T/Myeloid,_Not_Otherwise_Specified 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC2 human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Leukodystrophy Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 1.0000 condition_record_support_limited 20 0 1 Leukodystrophy 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC2 mondo_mondo_0009960_medgen_cn260071_omim_266600 Inflammatory bowel disease 1 MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600 1 1 1.0000 condition_record_support_limited 20 0 1 Inflammatory_bowel_disease_1 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC2 mondo_mondo_0018914_mesh_c537160_medgen_c1854310_orphanet_55654 Hypotrichosis simplex MONDO:MONDO:0018914,MeSH:C537160,MedGen:C1854310,Orphanet:55654 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotrichosis_simplex 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC2 human_phenotype_ontology_hp_0030062_mondo_mondo_0018907_mesh_d003397_medgen_c0010276_orphanet_54595 Craniopharyngioma Human_Phenotype_Ontology:HP:0030062,MONDO:MONDO:0018907,MeSH:D003397,MedGen:C0010276,Orphanet:54595 1 1 1.0000 condition_record_support_limited 20 0 1 Craniopharyngioma 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERCC1 human_phenotype_ontology_hp_0001587_human_phenotype_ontology_hp_0008209_human_phenotype_ontology_hp_0100805_mondo_mondo_0001119_medgen_c0025322 Premature ovarian insufficiency Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322 1 1 1.0000 condition_record_support_limited 20 0 1 Premature_ovarian_insufficiency 15 low_record_burden_interpretation_limited low_record_burden_gene ERCC1 human_phenotype_ontology_hp_0012573_medgen_c4022839 Global proximal tubulopathy Human_Phenotype_Ontology:HP:0012573,MedGen:C4022839 1 1 1.0000 condition_record_support_limited 20 0 1 Global_proximal_tubulopathy 15 low_record_burden_interpretation_limited low_record_burden_gene ERCC1 human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive 15 low_record_burden_interpretation_limited low_record_burden_gene ERCC1 human_phenotype_ontology_hp_0000992_human_phenotype_ontology_hp_0005594_human_phenotype_ontology_hp_0006831_human_phenotype_ontology_hp_0007538_mondo_mondo_0005434_medgen_c0349506 Cutaneous photosensitivity Human_Phenotype_Ontology:HP:0000992,Human_Phenotype_Ontology:HP:0005594,Human_Phenotype_Ontology:HP:0006831,Human_Phenotype_Ontology:HP:0007538,MONDO:MONDO:0005434,MedGen:C0349506 1 1 1.0000 condition_record_support_limited 20 0 1 Cutaneous_photosensitivity 15 low_record_burden_interpretation_limited low_record_burden_gene ERCC1 mondo_mondo_0016006_medgen_c0009207_orphanet_191 Cockayne syndrome MONDO:MONDO:0016006,MedGen:C0009207,Orphanet:191 1 1 1.0000 condition_record_support_limited 20 0 1 Cockayne_syndrome 15 low_record_burden_interpretation_limited low_record_burden_gene ERCC1 human_phenotype_ontology_hp_0002611_medgen_c0860204 Cholestatic liver disease Human_Phenotype_Ontology:HP:0002611,MedGen:C0860204 1 1 1.0000 condition_record_support_limited 20 0 1 Cholestatic_liver_disease 15 low_record_burden_interpretation_limited low_record_burden_gene ERC1 mondo_mondo_0014863_medgen_c4310766_omim_617011_orphanet_457359 Macrocephaly, dysmorphic facies, and psychomotor retardation MONDO:MONDO:0014863,MedGen:C4310766,OMIM:617011,Orphanet:457359 1 1 1.0000 condition_record_support_limited 20 0 0 Macrocephaly,_dysmorphic_facies,_and_psychomotor_retardation 1 low_record_burden_interpretation_limited low_record_burden_gene ERBB4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene ERBB4 mondo_mondo_0016996_medgen_c4509932_orphanet_263665 NK-cell enteropathy MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665 1 1 1.0000 condition_record_support_limited 20 0 0 NK-cell_enteropathy 10 low_record_burden_interpretation_limited low_record_burden_gene ERBB4 human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Amyotrophic lateral sclerosis Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 1 1 1.0000 condition_record_support_limited 20 0 0 Amyotrophic_lateral_sclerosis 10 low_record_burden_interpretation_limited low_record_burden_gene ERBB2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERBB2 mondo_mondo_0030399_medgen_c5561950_omim_619465 Visceral neuropathy, familial, 2, autosomal recessive MONDO:MONDO:0030399,MedGen:C5561950,OMIM:619465 1 1 1.0000 condition_record_support_limited 20 0 0 Visceral_neuropathy,_familial,_2,_autosomal_recessive 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERBB2 human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Ovarian neoplasm Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_neoplasm 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERBB2 mondo_mondo_0024498_medgen_c2750850_omim_137800 Glioma susceptibility 1 MONDO:MONDO:0024498,MedGen:C2750850,OMIM:137800 1 1 1.0000 condition_record_support_limited 20 0 0 Glioma_susceptibility_1 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERBB2 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 1 1 1.0000 condition_record_support_limited 20 0 0 Gastric_cancer 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ERAP1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene ERAL1 mondo_mondo_0033047_medgen_c4479656_omim_617565 Perrault syndrome 6 MONDO:MONDO:0033047,MedGen:C4479656,OMIM:617565 1 1 1.0000 condition_record_support_limited 20 0 1 Perrault_syndrome_6 1 low_record_burden_interpretation_limited low_record_burden_gene ERAL1 mondo_mondo_0017312_medgen_c0685838_omim_ps233400_orphanet_2855 Perrault syndrome MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855 1 1 1.0000 condition_record_support_limited 20 0 1 Perrault_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene EPRS1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 18 low_record_burden_interpretation_limited low_record_burden_gene EPRS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 18 low_record_burden_interpretation_limited low_record_burden_gene EPRS1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 18 low_record_burden_interpretation_limited low_record_burden_gene EPOR mondo_mondo_0018004_medgen_c5679860_orphanet_329469 Acute megakaryoblastic leukemia without down syndrome MONDO:MONDO:0018004,MedGen:C5679860,Orphanet:329469 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_megakaryoblastic_leukemia_without_down_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene EPO mondo_mondo_0060662_medgen_c4693556_omim_617911 Diamond-Blackfan anemia-like MONDO:MONDO:0060662,MedGen:C4693556,OMIM:617911 1 1 1.0000 condition_record_support_limited 20 0 0 Diamond-Blackfan_anemia-like 3 low_record_burden_interpretation_limited low_record_burden_gene EPM2A mondo_mondo_0007295_medgen_c0376532_orphanet_1945 Self-limited epilepsy with centrotemporal spikes MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 1 1 1.0000 condition_record_support_limited 20 0 0 Self-limited_epilepsy_with_centrotemporal_spikes 55 compact_adjacent_exon_block_opportunity local_compact_architecture EPM2A epm2a_related_disorder EPM2A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 EPM2A-related_disorder 55 compact_adjacent_exon_block_opportunity local_compact_architecture EPM2A human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 55 compact_adjacent_exon_block_opportunity local_compact_architecture EPHX1 mondo_mondo_0020087_medgen_c4511302_orphanet_98305 Hereditary lipodystrophy MONDO:MONDO:0020087,MedGen:C4511302,Orphanet:98305 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_lipodystrophy 1 low_record_burden_interpretation_limited low_record_burden_gene EPHB4 human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 1.0000 condition_record_support_limited 20 0 0 Non-immune_hydrops_fetalis 135 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPHB4 human_phenotype_ontology_hp_0100026_mesh_d001165_medgen_c0003857 Arteriovenous malformation Human_Phenotype_Ontology:HP:0100026,MeSH:D001165,MedGen:C0003857 1 1 1.0000 condition_record_support_limited 20 0 0 Arteriovenous_malformation 135 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPHB2 mondo_mondo_0011361_medgen_c1863600_omim_603688_orphanet_1331 Prostate cancer/brain cancer susceptibility MONDO:MONDO:0011361,MedGen:C1863600,OMIM:603688,Orphanet:1331 1 1 1.0000 condition_record_support_limited 20 0 0 Prostate_cancer/brain_cancer_susceptibility 2 low_record_burden_interpretation_limited low_record_burden_gene EPHB2 mondo_mondo_0032765_medgen_c5193111_omim_618462 Bleeding disorder, platelet-type, 22 MONDO:MONDO:0032765,MedGen:C5193111,OMIM:618462 1 1 1.0000 condition_record_support_limited 20 0 0 Bleeding_disorder,_platelet-type,_22 2 low_record_burden_interpretation_limited low_record_burden_gene EPHA4 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 2 low_record_burden_interpretation_limited low_record_burden_gene EPHA4 atypical_cerebral_palsy atypical cerebral palsy . 1 1 1.0000 condition_record_support_limited 20 0 0 atypical_cerebral_palsy 2 low_record_burden_interpretation_limited low_record_burden_gene EPHA2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 17 low_record_burden_interpretation_limited low_record_burden_gene EPHA2 human_phenotype_ontology_hp_0000526_mondo_mondo_0019172_medgen_c0003076 Congenital aniridia Human_Phenotype_Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_aniridia 17 low_record_burden_interpretation_limited low_record_burden_gene EPHA2 human_phenotype_ontology_hp_0000518_mondo_mondo_0005129_mesh_d002386_medgen_c0086543_omim_ps116200 Cataract Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200 1 1 1.0000 condition_record_support_limited 20 0 1 Cataract 17 low_record_burden_interpretation_limited low_record_burden_gene EPHA2 human_phenotype_ontology_hp_0001143_human_phenotype_ontology_hp_0001585_human_phenotype_ontology_hp_0007633_medgen_c1843496 Bilateral microphthalmos Human_Phenotype_Ontology:HP:0001143,Human_Phenotype_Ontology:HP:0001585,Human_Phenotype_Ontology:HP:0007633,MedGen:C1843496 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_microphthalmos 17 low_record_burden_interpretation_limited low_record_burden_gene EPHA10 mesh_c580334_medgen_c3711374 Nonsyndromic Deafness MeSH:C580334,MedGen:C3711374 1 1 1.0000 condition_record_support_limited 20 0 1 Nonsyndromic_Deafness 1 low_record_burden_interpretation_limited low_record_burden_gene EPHA10 mondo_mondo_0859527_medgen_c5830355_omim_620283 Hearing loss, autosomal dominant 88 MONDO:MONDO:0859527,MedGen:C5830355,OMIM:620283 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_dominant_88 1 low_record_burden_interpretation_limited low_record_burden_gene EPCAM mondo_mondo_0007356_medgen_c2936783_omim_120435_orphanet_144 Lynch syndrome 1 MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144 1 1 1.0000 condition_record_support_limited 20 0 0 Lynch_syndrome_1 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPCAM mesh_d003123_medgen_c0009405 Hereditary nonpolyposis colorectal neoplasms MeSH:D003123,MedGen:C0009405 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_nonpolyposis_colorectal_neoplasms 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPCAM mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer-predisposing_syndrome 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPCAM human_phenotype_ontology_hp_0100273_mondo_mondo_0005401_mesh_d003110_medgen_c0009375 Colonic neoplasm Human_Phenotype_Ontology:HP:0100273,MONDO:MONDO:0005401,MeSH:D003110,MedGen:C0009375 1 1 1.0000 condition_record_support_limited 20 0 0 Colonic_neoplasm 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPB41L4A human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_paraplegia 1 low_record_burden_interpretation_limited low_record_burden_gene EPB41L4A human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive 1 low_record_burden_interpretation_limited low_record_burden_gene EPB41L1 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 1 low_record_burden_interpretation_limited low_record_burden_gene EPB41 mondo_mondo_0017319_medgen_c0013902_orphanet_288 Hereditary elliptocytosis MONDO:MONDO:0017319,MedGen:C0013902,Orphanet:288 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_elliptocytosis 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EPAS1 mondo_mondo_0012353_medgen_c1853286_omim_609820_orphanet_247511 Erythrocytosis, familial, 3 MONDO:MONDO:0012353,MedGen:C1853286,OMIM:609820,Orphanet:247511 1 1 1.0000 condition_record_support_limited 20 0 0 Erythrocytosis,_familial,_3 8 low_record_burden_interpretation_limited low_record_burden_gene EP300 intellectual_deficiency intellectual deficiency MedGen:CN228659 1 1 1.0000 condition_record_support_limited 20 0 1 intellectual_deficiency 264 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EP300 medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_intellectual_disability 264 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EP300 human_phenotype_ontology_hp_0005808_human_phenotype_ontology_hp_0100259_mondo_mondo_0020927_medgen_c0220697_omim_ps174200 Postaxial polydactyly Human_Phenotype_Ontology:HP:0005808,Human_Phenotype_Ontology:HP:0100259,MONDO:MONDO:0020927,MedGen:C0220697,OMIM:PS174200 1 1 1.0000 condition_record_support_limited 20 0 1 Postaxial_polydactyly 264 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EP300 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 264 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EP300 medgen_c0000772 Multiple congenital anomalies MedGen:C0000772 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_congenital_anomalies 264 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EP300 mondo_mondo_0008965_medgen_c0265354_orphanet_138 CHARGE syndrome MONDO:MONDO:0008965,MedGen:C0265354,Orphanet:138 1 1 1.0000 condition_record_support_limited 20 0 1 CHARGE_syndrome 264 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EP300 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 264 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture EOGT mondo_mondo_0007034_medgen_c0265268_omim_ps100300_orphanet_974 Adams-Oliver syndrome MONDO:MONDO:0007034,MedGen:C0265268,OMIM:PS100300,Orphanet:974 1 1 1.0000 condition_record_support_limited 20 0 1 Adams-Oliver_syndrome 13 low_record_burden_interpretation_limited low_record_burden_gene ENTREP2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene ENTPD2 susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 1 low_record_burden_interpretation_limited low_record_burden_gene ENTPD1 entpd1_related_disorder ENTPD1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ENTPD1-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene ENPP1 human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 1.0000 condition_record_support_limited 20 0 1 Obesity 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENPP1 autosomal_recessive_enpp1_related_disorders Autosomal recessive ENPP1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_ENPP1-related_disorders 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENPP1 medgen_c2936858_omim_201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY MedGen:C2936858,OMIM:201910 1 1 1.0000 condition_record_support_limited 20 0 1 ADRENAL_HYPERPLASIA,_CONGENITAL,_DUE_TO_21-HYDROXYLASE_DEFICIENCY 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENO3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene ENG human_phenotype_ontology_hp_0100585_medgen_c4022018 Telangiectasia of the skin Human_Phenotype_Ontology:HP:0100585,MedGen:C4022018 1 1 1.0000 condition_record_support_limited 20 0 1 Telangiectasia_of_the_skin 607 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENG human_phenotype_ontology_hp_0003684_human_phenotype_ontology_hp_0004406_medgen_c3809715 Spontaneous, recurrent epistaxis Human_Phenotype_Ontology:HP:0003684,Human_Phenotype_Ontology:HP:0004406,MedGen:C3809715 1 1 1.0000 condition_record_support_limited 20 0 1 Spontaneous,_recurrent_epistaxis 607 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENG mondo_mondo_0024533_medgen_c4552070_omim_178600_orphanet_422 Pulmonary hypertension, primary, 1 MONDO:MONDO:0024533,MedGen:C4552070,OMIM:178600,Orphanet:422 1 1 1.0000 condition_record_support_limited 20 0 0 Pulmonary_hypertension,_primary,_1 607 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENG human_phenotype_ontology_hp_0002114_human_phenotype_ontology_hp_0006537_human_phenotype_ontology_hp_0006548_medgen_c1857690 Pulmonary arteriovenous malformation Human_Phenotype_Ontology:HP:0002114,Human_Phenotype_Ontology:HP:0006537,Human_Phenotype_Ontology:HP:0006548,MedGen:C1857690 1 1 1.0000 condition_record_support_limited 20 0 1 Pulmonary_arteriovenous_malformation 607 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENG human_phenotype_ontology_hp_0000229_human_phenotype_ontology_hp_0002707_medgen_c1857699 Palate telangiectasia Human_Phenotype_Ontology:HP:0000229,Human_Phenotype_Ontology:HP:0002707,MedGen:C1857699 1 1 1.0000 condition_record_support_limited 20 0 1 Palate_telangiectasia 607 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENG human_phenotype_ontology_hp_0000228_medgen_c4025877 Oral cavity telangiectasia Human_Phenotype_Ontology:HP:0000228,MedGen:C4025877 1 1 1.0000 condition_record_support_limited 20 0 1 Oral_cavity_telangiectasia 607 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENG mondo_mondo_0017380_medgen_c0345893_omim_174900_orphanet_2929 Juvenile polyposis syndrome MONDO:MONDO:0017380,MedGen:C0345893,OMIM:174900,Orphanet:2929 1 1 1.0000 condition_record_support_limited 20 0 1 Juvenile_polyposis_syndrome 607 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENG haemorrhagic_telangiectasia_1 Haemorrhagic telangiectasia 1 . 1 1 1.0000 condition_record_support_limited 20 0 1 Haemorrhagic_telangiectasia_1 607 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENG human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Cerebral arteriovenous malformation Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_arteriovenous_malformation 607 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ENAM mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 15 low_record_burden_interpretation_limited low_record_burden_gene ENAM human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Amelogenesis imperfecta Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 1 1 1.0000 condition_record_support_limited 20 0 0 Amelogenesis_imperfecta 15 low_record_burden_interpretation_limited low_record_burden_gene EN1 mondo_mondo_0030979_medgen_c5543142_omim_619218 ENDOVE syndrome, limb-brain type MONDO:MONDO:0030979,MedGen:C5543142,OMIM:619218 1 1 1.0000 condition_record_support_limited 20 0 1 ENDOVE_syndrome,_limb-brain_type 1 low_record_burden_interpretation_limited low_record_burden_gene EN1 en1_syndrome EN1 syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 EN1_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene EML6 human_phenotype_ontology_hp_0000569_human_phenotype_ontology_hp_0011003_medgen_c0271183 High myopia Human_Phenotype_Ontology:HP:0000569,Human_Phenotype_Ontology:HP:0011003,MedGen:C0271183 1 1 1.0000 condition_record_support_limited 20 0 0 High_myopia 1 low_record_burden_interpretation_limited low_record_burden_gene EMILIN1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene EMILIN1 mondo_mondo_0859300_medgen_c5774234_omim_620080 Neuronopathy, distal hereditary motor, autosomal dominant 10 MONDO:MONDO:0859300,MedGen:C5774234,OMIM:620080 1 1 1.0000 condition_record_support_limited 20 0 0 Neuronopathy,_distal_hereditary_motor,_autosomal_dominant_10 6 low_record_burden_interpretation_limited low_record_burden_gene EMG1 mondo_mondo_0008879_medgen_c1859405_omim_211180_orphanet_1270 Bowen-Conradi syndrome MONDO:MONDO:0008879,MedGen:C1859405,OMIM:211180,Orphanet:1270 1 1 1.0000 condition_record_support_limited 20 0 0 Bowen-Conradi_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene EME2 mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 1 1 1.0000 condition_record_support_limited 20 0 1 Leigh_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene EME2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 4 low_record_burden_interpretation_limited low_record_burden_gene EMD mondo_mondo_0010401_medgen_c2678055_omim_300696_orphanet_178461 X-linked myopathy with postural muscle atrophy MONDO:MONDO:0010401,MedGen:C2678055,OMIM:300696,Orphanet:178461 1 1 1.0000 condition_record_support_limited 20 0 0 X-linked_myopathy_with_postural_muscle_atrophy 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EMD mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 Primary familial dilated cardiomyopathy MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_familial_dilated_cardiomyopathy 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EMD human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 1.0000 condition_record_support_limited 20 0 1 Myopathy 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EMD human_phenotype_ontology_hp_0001371_human_phenotype_ontology_hp_0001372_human_phenotype_ontology_hp_0001381_human_phenotype_ontology_hp_0005053_human_phenotype_ontology_hp_0005189_human_phenotype_ontology_hp_0005660_medgen_c0333068 Flexion contracture Human_Phenotype_Ontology:HP:0001371,Human_Phenotype_Ontology:HP:0001372,Human_Phenotype_Ontology:HP:0001381,Human_Phenotype_Ontology:HP:0005053,Human_Phenotype_Ontology:HP:0005189,Human_Phenotype_Ontology:HP:0005660,MedGen:C0333068 1 1 1.0000 condition_record_support_limited 20 0 1 Flexion_contracture 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EMD human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EMD emd_related_disorder EMD-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 EMD-related_disorder 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EMD mondo_mondo_0018993_medgen_c0270914_orphanet_64746 Charcot-Marie-Tooth disease type 2 MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease_type_2 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EMD cardiomyopathy_dilated_3c CARDIOMYOPATHY, DILATED, 3C MedGen:CN380879,OMIM:301163 1 1 1.0000 condition_record_support_limited 20 0 1 CARDIOMYOPATHY,_DILATED,_3C 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EMC10 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 13 low_record_burden_interpretation_limited low_record_burden_gene EMC10 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 13 low_record_burden_interpretation_limited low_record_burden_gene EMC10 emc10_related_disorder EMC10-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 EMC10-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene EMC1 human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 1.0000 condition_record_support_limited 20 0 1 Obesity 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EMC1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EMC1 mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_anomaly_of_kidney_and_urinary_tract 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EMC1 human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Cerebellar atrophy Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_atrophy 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELP6 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene ELP4 human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Visual impairment Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 1.0000 condition_record_support_limited 20 0 1 Visual_impairment 19 low_record_burden_interpretation_limited low_record_burden_gene ELP4 sporadic_aniridia Sporadic aniridia . 1 1 1.0000 condition_record_support_limited 20 0 1 Sporadic_aniridia 19 low_record_burden_interpretation_limited low_record_burden_gene ELP4 pax6_related_disorder PAX6-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PAX6-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene ELP4 human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 1.0000 condition_record_support_limited 20 0 1 Nystagmus 19 low_record_burden_interpretation_limited low_record_burden_gene ELP4 mondo_mondo_0008136_medgen_c1833797_omim_165550_orphanet_637061 Isolated optic nerve hypoplasia MONDO:MONDO:0008136,MedGen:C1833797,OMIM:165550,Orphanet:637061 1 1 1.0000 condition_record_support_limited 20 0 1 Isolated_optic_nerve_hypoplasia 19 low_record_burden_interpretation_limited low_record_burden_gene ELP4 human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Hypertelorism Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertelorism 19 low_record_burden_interpretation_limited low_record_burden_gene ELP4 human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Congenital ocular coloboma Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_ocular_coloboma 19 low_record_burden_interpretation_limited low_record_burden_gene ELP4 human_phenotype_ontology_hp_0000588_human_phenotype_ontology_hp_0007997_mondo_mondo_0007354_medgen_c0155299_omim_120430_orphanet_35737_orphanet_98947 Coloboma of optic nerve Human_Phenotype_Ontology:HP:0000588,Human_Phenotype_Ontology:HP:0007997,MONDO:MONDO:0007354,MedGen:C0155299,OMIM:120430,Orphanet:35737,Orphanet:98947 1 1 1.0000 condition_record_support_limited 20 0 1 Coloboma_of_optic_nerve 19 low_record_burden_interpretation_limited low_record_burden_gene ELP4 mondo_mondo_0007848_medgen_c1835698_omim_148190_orphanet_2334 Autosomal dominant keratitis MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190,Orphanet:2334 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_keratitis 19 low_record_burden_interpretation_limited low_record_burden_gene ELP4 mondo_mondo_0008681_medgen_c0206115_omim_194072_orphanet_893 11p partial monosomy syndrome MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072,Orphanet:893 1 1 1.0000 condition_record_support_limited 20 0 1 11p_partial_monosomy_syndrome 19 low_record_burden_interpretation_limited low_record_burden_gene ELOVL4 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELOVL4 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELOVL4 elovl4_related_ataxia ELOVL4-related ataxia . 1 1 1.0000 condition_record_support_limited 20 0 0 ELOVL4-related_ataxia 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELOVL1 mondo_mondo_0032798_medgen_c5193147_omim_618527 Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features MONDO:MONDO:0032798,MedGen:C5193147,OMIM:618527 1 1 1.0000 condition_record_support_limited 20 0 0 Ichthyotic_keratoderma,_spasticity,_hypomyelination,_and_dysmorphic_facial_features 1 low_record_burden_interpretation_limited low_record_burden_gene ELMOD3 mondo_mondo_0014182_medgen_c2829267_omim_615429_orphanet_90636 Autosomal recessive nonsyndromic hearing loss 88 MONDO:MONDO:0014182,MedGen:C2829267,OMIM:615429,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_nonsyndromic_hearing_loss_88 1 low_record_burden_interpretation_limited low_record_burden_gene ELFN1 developmental_and_epileptic_encephalopathy_with_joint_laxity Developmental and Epileptic Encephalopathy with Joint Laxity . 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_Epileptic_Encephalopathy_with_Joint_Laxity 5 low_record_burden_interpretation_limited low_record_burden_gene ELF2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene ELF2 mondo_mondo_0044720_medgen_c3281223_omim_614575_orphanet_504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome MONDO:MONDO:0044720,MedGen:C3281223,OMIM:614575,Orphanet:504476 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia_with_neuropathy_and_bilateral_vestibular_areflexia_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene ELANE mondo_mondo_0008742_medgen_c4749612_orphanet_486 Autosomal dominant severe congenital neutropenia MONDO:MONDO:0008742,MedGen:C4749612,Orphanet:486 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_severe_congenital_neutropenia 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELAC2 prostate_cancer_hereditary_2_susceptibility_to Prostate cancer, hereditary, 2, susceptibility to . 1 1 1.0000 condition_record_support_limited 20 0 1 Prostate_cancer,_hereditary,_2,_susceptibility_to 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELAC2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ELAC2 elac2_related_disorder ELAC2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ELAC2-related_disorder 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF5A mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene EIF4G3 mondo_mondo_0012876_medgen_c0398626_omim_612356 Heparin cofactor II deficiency MONDO:MONDO:0012876,MedGen:C0398626,OMIM:612356 1 1 1.0000 condition_record_support_limited 20 0 0 Heparin_cofactor_II_deficiency 1 low_record_burden_interpretation_limited low_record_burden_gene EIF4A3 mondo_mondo_0009998_medgen_c1849348_omim_268305_orphanet_3102 Richieri Costa-Pereira syndrome MONDO:MONDO:0009998,MedGen:C1849348,OMIM:268305,Orphanet:3102 1 1 1.0000 condition_record_support_limited 20 0 0 Richieri_Costa-Pereira_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene EIF4A2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 18 low_record_burden_interpretation_limited low_record_burden_gene EIF4A2 intellectual_disability_with_muscular_spams Intellectual disability with muscular spams . 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability_with_muscular_spams 18 low_record_burden_interpretation_limited low_record_burden_gene EIF3F condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene EIF3F mondo_mondo_0060596_medgen_c4540327_omim_617755_orphanet_686482 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies MONDO:MONDO:0060596,MedGen:C4540327,OMIM:617755,Orphanet:686482 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_dysmorphic_facies_and_distal_limb_anomalies 4 low_record_burden_interpretation_limited low_record_burden_gene EIF3F mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene EIF3F human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 4 low_record_burden_interpretation_limited low_record_burden_gene EIF3F mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 4 low_record_burden_interpretation_limited low_record_burden_gene EIF3F eif3f_related_disorder EIF3F-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 EIF3F-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene EIF2S3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene EIF2B5 medgen_c1847967_orphanet_99853 Ovarioleukodystrophy MedGen:C1847967,Orphanet:99853 1 1 1.0000 condition_record_support_limited 20 0 1 Ovarioleukodystrophy 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2B5 human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Leukodystrophy Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 1.0000 condition_record_support_limited 20 0 1 Leukodystrophy 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2B5 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_breast_ovarian_cancer_syndrome 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2B3 mondo_mondo_0020507_medgen_c5779972_omim_603896_orphanet_99854 Leukoencephalopathy with vanishing white matter 1 MONDO:MONDO:0020507,MedGen:C5779972,OMIM:603896,Orphanet:99854 1 1 1.0000 condition_record_support_limited 20 0 1 Leukoencephalopathy_with_vanishing_white_matter_1 16 low_record_burden_interpretation_limited low_record_burden_gene EIF2B3 eif2b3_related_disorder EIF2B3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 EIF2B3-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene EIF2B2 mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 Osteogenesis imperfecta MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 1 1 1.0000 condition_record_support_limited 20 0 1 Osteogenesis_imperfecta 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2B2 mondo_mondo_0020507_medgen_c5779972_omim_603896_orphanet_99854 Leukoencephalopathy with vanishing white matter 1 MONDO:MONDO:0020507,MedGen:C5779972,OMIM:603896,Orphanet:99854 1 1 1.0000 condition_record_support_limited 20 0 1 Leukoencephalopathy_with_vanishing_white_matter_1 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2B2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2AK4 mondo_mondo_0020713_medgen_c3887658_omim_265450_orphanet_31837 Pulmonary venoocclusive disease 1 MONDO:MONDO:0020713,MedGen:C3887658,OMIM:265450,Orphanet:31837 1 1 1.0000 condition_record_support_limited 20 0 0 Pulmonary_venoocclusive_disease_1 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2AK3 mondo_mondo_0010651_medgen_c0022716_omim_309400_orphanet_565 Menkes kinky-hair syndrome MONDO:MONDO:0010651,MedGen:C0022716,OMIM:309400,Orphanet:565 1 1 1.0000 condition_record_support_limited 20 0 1 Menkes_kinky-hair_syndrome 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EIF2AK2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene EIF2AK1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene EIF2AK1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 3 low_record_burden_interpretation_limited low_record_burden_gene EIF1AX human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 1 low_record_burden_interpretation_limited low_record_burden_gene EI24 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene EHMT2 ehmt2_related_kleefstra_like_syndrome EHMT2-related Kleefstra-like syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 EHMT2-related_Kleefstra-like_syndrome 7 low_record_burden_interpretation_limited low_record_burden_gene EHMT1 human_phenotype_ontology_hp_0000664_human_phenotype_ontology_hp_0002210_medgen_c0431447 Synophrys Human_Phenotype_Ontology:HP:0000664,Human_Phenotype_Ontology:HP:0002210,MedGen:C0431447 1 1 1.0000 condition_record_support_limited 20 0 1 Synophrys 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EHMT1 human_phenotype_ontology_hp_0100753_mondo_mondo_0005090_mesh_d012559_medgen_c0036341_omim_181500 Schizophrenia Human_Phenotype_Ontology:HP:0100753,MONDO:MONDO:0005090,MeSH:D012559,MedGen:C0036341,OMIM:181500 1 1 1.0000 condition_record_support_limited 20 0 1 Schizophrenia 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EHMT1 human_phenotype_ontology_hp_0002126_mondo_mondo_0000087_medgen_c0266464_orphanet_35981 Polymicrogyria Human_Phenotype_Ontology:HP:0002126,MONDO:MONDO:0000087,MedGen:C0266464,Orphanet:35981 1 1 1.0000 condition_record_support_limited 20 0 1 Polymicrogyria 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EHMT1 human_phenotype_ontology_hp_0002355_human_phenotype_ontology_hp_0007101_human_phenotype_ontology_hp_0009030_medgen_c0311394 Difficulty walking Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394 1 1 1.0000 condition_record_support_limited 20 0 1 Difficulty_walking 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EHMT1 human_phenotype_ontology_hp_0000280_human_phenotype_ontology_hp_0000281_human_phenotype_ontology_hp_0004640_medgen_c1845847 Coarse facial features Human_Phenotype_Ontology:HP:0000280,Human_Phenotype_Ontology:HP:0000281,Human_Phenotype_Ontology:HP:0004640,MedGen:C1845847 1 1 1.0000 condition_record_support_limited 20 0 1 Coarse_facial_features 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EHMT1 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EHMT1 human_phenotype_ontology_hp_0000427_human_phenotype_ontology_hp_0000435_human_phenotype_ontology_hp_0000441_human_phenotype_ontology_hp_0000463_medgen_c1840077 Anteverted nares Human_Phenotype_Ontology:HP:0000427,Human_Phenotype_Ontology:HP:0000435,Human_Phenotype_Ontology:HP:0000441,Human_Phenotype_Ontology:HP:0000463,MedGen:C1840077 1 1 1.0000 condition_record_support_limited 20 0 1 Anteverted_nares 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EHMT1 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 256 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EHBP1L1 human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 1.0000 condition_record_support_limited 20 0 0 Non-immune_hydrops_fetalis 1 low_record_burden_interpretation_limited low_record_burden_gene EGFR mondo_mondo_0010150_mesh_d000077195_medgen_c1168401_omim_275355_orphanet_67037 Squamous cell carcinoma of the head and neck MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037 1 1 1.0000 condition_record_support_limited 20 0 1 Squamous_cell_carcinoma_of_the_head_and_neck 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EGFR mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EGFR mondo_mondo_0023644_medgen_c0220641 Lip and oral cavity carcinoma MONDO:MONDO:0023644,MedGen:C0220641 1 1 1.0000 condition_record_support_limited 20 0 0 Lip_and_oral_cavity_carcinoma 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EGFR mondo_mondo_0008021_medgen_cn072330_omim_158350 Cowden syndrome 1 MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350 1 1 1.0000 condition_record_support_limited 20 0 0 Cowden_syndrome_1 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EGF condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene EGF mondo_mondo_0012717_medgen_c2673648_omim_611718_orphanet_34527 Renal hypomagnesemia 4 MONDO:MONDO:0012717,MedGen:C2673648,OMIM:611718,Orphanet:34527 1 1 1.0000 condition_record_support_limited 20 0 0 Renal_hypomagnesemia_4 2 low_record_burden_interpretation_limited low_record_burden_gene EFTUD2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFTUD2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFTUD2 human_phenotype_ontology_hp_0005321_mondo_mondo_0015483_medgen_cn004722_orphanet_155899 Mandibulofacial dysostosis Human_Phenotype_Ontology:HP:0005321,MONDO:MONDO:0015483,MedGen:CN004722,Orphanet:155899 1 1 1.0000 condition_record_support_limited 20 0 1 Mandibulofacial_dysostosis 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFTUD2 medgen_c5680982_orphanet_363294 Hereditary syndromic Pierre Robin syndrome MedGen:C5680982,Orphanet:363294 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_syndromic_Pierre_Robin_syndrome 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFTUD2 human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Esophageal atresia/tracheoesophageal fistula Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 1.0000 condition_record_support_limited 20 0 0 Esophageal_atresia/tracheoesophageal_fistula 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFTUD2 human_phenotype_ontology_hp_0002032_mondo_mondo_0001044_mesh_d004933_medgen_c0014850 Esophageal atresia Human_Phenotype_Ontology:HP:0002032,MONDO:MONDO:0001044,MeSH:D004933,MedGen:C0014850 1 1 1.0000 condition_record_support_limited 20 0 0 Esophageal_atresia 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFTUD2 mondo_mondo_0016044_medgen_c0158646_orphanet_199306 Cleft lip/palate MONDO:MONDO:0016044,MedGen:C0158646,Orphanet:199306 1 1 1.0000 condition_record_support_limited 20 0 0 Cleft_lip/palate 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFTUD2 chromatinopathy Chromatinopathy . 1 1 1.0000 condition_record_support_limited 20 0 0 Chromatinopathy 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFNB2 condition_not_provided condition not provided MedGen:CN169374 1 1 1.0000 condition_record_support_limited 20 1 0 not_specified 1 low_record_burden_interpretation_limited low_record_burden_gene EFNB1 efnb1_related_disorder EFNB1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 EFNB1-related_disorder 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFHC1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene EFEMP2 familial_aortopathy Familial aortopathy MedGen:CN078214 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_aortopathy 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFEMP2 human_phenotype_ontology_hp_0000973_mondo_mondo_0016175_medgen_c0010495_orphanet_209 Cutis laxa Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209 1 1 1.0000 condition_record_support_limited 20 0 0 Cutis_laxa 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EFEMP1 human_phenotype_ontology_hp_0007698_human_phenotype_ontology_hp_0007722_human_phenotype_ontology_hp_0008017_medgen_c1840457 Retinal pigment epithelial atrophy Human_Phenotype_Ontology:HP:0007698,Human_Phenotype_Ontology:HP:0007722,Human_Phenotype_Ontology:HP:0008017,MedGen:C1840457 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_pigment_epithelial_atrophy 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 human_phenotype_ontology_hp_0012426_mondo_mondo_0001746_medgen_c0029128 Optic disc drusen Human_Phenotype_Ontology:HP:0012426,MONDO:MONDO:0001746,MedGen:C0029128 1 1 1.0000 condition_record_support_limited 20 0 1 Optic_disc_drusen 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 human_phenotype_ontology_hp_0000662_human_phenotype_ontology_hp_0007653_human_phenotype_ontology_hp_0007725_human_phenotype_ontology_hp_0007865_human_phenotype_ontology_hp_0007895_mondo_mondo_0004588_medgen_c0028077 Night blindness Human_Phenotype_Ontology:HP:0000662,Human_Phenotype_Ontology:HP:0007653,Human_Phenotype_Ontology:HP:0007725,Human_Phenotype_Ontology:HP:0007865,Human_Phenotype_Ontology:HP:0007895,MONDO:MONDO:0004588,MedGen:C0028077 1 1 1.0000 condition_record_support_limited 20 0 1 Night_blindness 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 1.0000 condition_record_support_limited 20 0 1 Macular_dystrophy 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 efemp1_related_disorder EFEMP1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 EFEMP1-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 efemp1_related_connective_tissue_condition EFEMP1-related connective tissue condition . 1 1 1.0000 condition_record_support_limited 20 0 0 EFEMP1-related_connective_tissue_condition 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 mondo_mondo_0007471_medgen_c1832174_omim_126600_orphanet_75376 Doyne honeycomb retinal dystrophy MONDO:MONDO:0007471,MedGen:C1832174,OMIM:126600,Orphanet:75376 1 1 1.0000 condition_record_support_limited 20 0 1 Doyne_honeycomb_retinal_dystrophy 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 human_phenotype_ontology_hp_0000973_mondo_mondo_0016175_medgen_c0010495_orphanet_209 Cutis laxa Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209 1 1 1.0000 condition_record_support_limited 20 0 1 Cutis_laxa 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 1 1 1.0000 condition_record_support_limited 20 0 0 Connective_tissue_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene EFEMP1 human_phenotype_ontology_hp_0000618_human_phenotype_ontology_hp_0007839_mondo_mondo_0001941_medgen_c0456909 Blindness Human_Phenotype_Ontology:HP:0000618,Human_Phenotype_Ontology:HP:0007839,MONDO:MONDO:0001941,MedGen:C0456909 1 1 1.0000 condition_record_support_limited 20 0 1 Blindness 14 low_record_burden_interpretation_limited low_record_burden_gene EEFSEC mondo_mondo_0013351_medgen_c3150921_omim_613668_orphanet_402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly MONDO:MONDO:0013351,MedGen:C3150921,OMIM:613668,Orphanet:402364 1 1 1.0000 condition_record_support_limited 20 0 1 Infantile_cerebral_and_cerebellar_atrophy_with_postnatal_progressive_microcephaly 4 low_record_burden_interpretation_limited low_record_burden_gene EEFSEC mondo_mondo_0019502_medgen_c5680181_omim_ps249500_orphanet_88616 Autosomal recessive non-syndromic intellectual disability MONDO:MONDO:0019502,MedGen:C5680181,OMIM:PS249500,Orphanet:88616 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_non-syndromic_intellectual_disability 4 low_record_burden_interpretation_limited low_record_burden_gene EEF2KMT condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene EEF2KMT mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 4 low_record_burden_interpretation_limited low_record_burden_gene EEF2KMT mondo_mondo_0015286_medgen_c0282577_orphanet_137 Congenital disorder of glycosylation MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_disorder_of_glycosylation 4 low_record_burden_interpretation_limited low_record_burden_gene EEF1D mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene EEF1D mondo_mondo_0007925_medgen_c1292779_omim_153550_orphanet_86841 Myelodysplastic syndrome associated with isolated del(5q) MONDO:MONDO:0007925,MedGen:C1292779,OMIM:153550,Orphanet:86841 1 1 1.0000 condition_record_support_limited 20 0 0 Myelodysplastic_syndrome_associated_with_isolated_del(5q) 9 low_record_burden_interpretation_limited low_record_burden_gene EEF1D medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 9 low_record_burden_interpretation_limited low_record_burden_gene EEF1D mondo_mondo_0019502_medgen_c5680181_omim_ps249500_orphanet_88616 Autosomal recessive non-syndromic intellectual disability MONDO:MONDO:0019502,MedGen:C5680181,OMIM:PS249500,Orphanet:88616 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_non-syndromic_intellectual_disability 9 low_record_burden_interpretation_limited low_record_burden_gene EEF1B2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 3 low_record_burden_interpretation_limited low_record_burden_gene EEF1B2 human_phenotype_ontology_hp_0011343_medgen_c2237142 Moderate global developmental delay Human_Phenotype_Ontology:HP:0011343,MedGen:C2237142 1 1 1.0000 condition_record_support_limited 20 0 1 Moderate_global_developmental_delay 3 low_record_burden_interpretation_limited low_record_burden_gene EEF1B2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 3 low_record_burden_interpretation_limited low_record_burden_gene EEF1AKMT4 mondo_mondo_0010998_medgen_c1832736_omim_601110_orphanet_79321 ALG3-congenital disorder of glycosylation MONDO:MONDO:0010998,MedGen:C1832736,OMIM:601110,Orphanet:79321 1 1 1.0000 condition_record_support_limited 20 0 0 ALG3-congenital_disorder_of_glycosylation 1 low_record_burden_interpretation_limited low_record_burden_gene EEF1A2 mondo_mondo_0100038_medgen_c5568766_orphanet_528084 Complex neurodevelopmental disorder MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 1 1 1.0000 condition_record_support_limited 20 0 1 Complex_neurodevelopmental_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EED human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 13 low_record_burden_interpretation_limited low_record_burden_gene EED mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene EDNRB medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_deafness 41 compact_adjacent_exon_block_opportunity local_compact_architecture EDNRB monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 41 compact_adjacent_exon_block_opportunity local_compact_architecture EDNRB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 41 compact_adjacent_exon_block_opportunity local_compact_architecture EDNRB mondo_mondo_0010833_medgen_c1838564_omim_600155_orphanet_388 Hirschsprung disease, susceptibility to, 2 MONDO:MONDO:0010833,MedGen:C1838564,OMIM:600155,Orphanet:388 1 1 1.0000 condition_record_support_limited 20 0 1 Hirschsprung_disease,_susceptibility_to,_2 41 compact_adjacent_exon_block_opportunity local_compact_architecture EDNRB human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 41 compact_adjacent_exon_block_opportunity local_compact_architecture EDNRB mondo_mondo_0010895_medgen_c1838099_omim_600501 ABCD syndrome MONDO:MONDO:0010895,MedGen:C1838099,OMIM:600501 1 1 1.0000 condition_record_support_limited 20 0 1 ABCD_syndrome 41 compact_adjacent_exon_block_opportunity local_compact_architecture EDN3 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 0 Sensorineural_hearing_loss_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene EDEM3 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 15 low_record_burden_interpretation_limited low_record_burden_gene EDARADD human_phenotype_ontology_hp_0009804_medgen_c4024202 Tooth agenesis Human_Phenotype_Ontology:HP:0009804,MedGen:C4024202 1 1 1.0000 condition_record_support_limited 20 0 0 Tooth_agenesis 16 low_record_burden_interpretation_limited low_record_burden_gene EDARADD ectodermal_dysplasia_11b_hypohidrotic_hair_tooth_type_autosomal_dominant ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT . 1 1 1.0000 condition_record_support_limited 20 0 1 ECTODERMAL_DYSPLASIA_11B,_HYPOHIDROTIC/HAIR/TOOTH_TYPE,_AUTOSOMAL_DOMINANT 16 low_record_burden_interpretation_limited low_record_burden_gene EDAR human_phenotype_ontology_hp_0000677_human_phenotype_ontology_hp_0000702_medgen_c4082304 Oligodontia Human_Phenotype_Ontology:HP:0000677,Human_Phenotype_Ontology:HP:0000702,MedGen:C4082304 1 1 1.0000 condition_record_support_limited 20 0 1 Oligodontia 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EDAR mondo_mondo_0013983_medgen_c3539920_omim_614941_orphanet_238468_orphanet_248 Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive MONDO:MONDO:0013983,MedGen:C3539920,OMIM:614941,Orphanet:238468,Orphanet:248 1 1 1.0000 condition_record_support_limited 20 0 1 Ectodermal_dysplasia_11B,_hypohidrotic/hair/tooth_type,_autosomal_recessive 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EDAR edar_related_disorder EDAR-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 EDAR-related_disorder 91 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EDA2R human_phenotype_ontology_hp_0000668_mondo_mondo_0005486_medgen_c0020608_omim_ps106600_orphanet_99798 Hypodontia Human_Phenotype_Ontology:HP:0000668,MONDO:MONDO:0005486,MedGen:C0020608,OMIM:PS106600,Orphanet:99798 1 1 1.0000 condition_record_support_limited 20 0 0 Hypodontia 1 low_record_burden_interpretation_limited low_record_burden_gene EDA mondo_mondo_0011265_medgen_c1865092_omim_602639 Tooth agenesis, selective, 2 MONDO:MONDO:0011265,MedGen:C1865092,OMIM:602639 1 1 1.0000 condition_record_support_limited 20 0 0 Tooth_agenesis,_selective,_2 276 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EDA human_phenotype_ontology_hp_0000677_human_phenotype_ontology_hp_0000702_medgen_c4082304 Oligodontia Human_Phenotype_Ontology:HP:0000677,Human_Phenotype_Ontology:HP:0000702,MedGen:C4082304 1 1 1.0000 condition_record_support_limited 20 0 0 Oligodontia 276 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ECEL1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ECEL1 mondo_mondo_0008779_medgen_c0003886 Arthrogryposis MONDO:MONDO:0008779,MedGen:C0003886 1 1 1.0000 condition_record_support_limited 20 0 0 Arthrogryposis 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBP ebp_related_disorder EBP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 EBP-related_disorder 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBP mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 1 1 1.0000 condition_record_support_limited 20 0 1 Connective_tissue_disorder 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBP medgen_c4016464 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL MedGen:C4016464 1 1 1.0000 condition_record_support_limited 20 0 0 CHONDRODYSPLASIA_PUNCTATA_2,_X-LINKED_DOMINANT,_ATYPICAL 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBF3 human_phenotype_ontology_hp_0000076_human_phenotype_ontology_hp_0005998_human_phenotype_ontology_hp_0006002_human_phenotype_ontology_hp_0008667_mondo_mondo_0006007_medgen_c0042580 Vesicoureteral reflux Human_Phenotype_Ontology:HP:0000076,Human_Phenotype_Ontology:HP:0005998,Human_Phenotype_Ontology:HP:0006002,Human_Phenotype_Ontology:HP:0008667,MONDO:MONDO:0006007,MedGen:C0042580 1 1 1.0000 condition_record_support_limited 20 0 1 Vesicoureteral_reflux 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBF3 human_phenotype_ontology_hp_0008660_mondo_mondo_0017609_medgen_c0266313_orphanet_3033 Renal tubular dysgenesis Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_tubular_dysgenesis 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBF3 human_phenotype_ontology_hp_0000010_human_phenotype_ontology_hp_0000094_medgen_c0262655 Recurrent urinary tract infections Human_Phenotype_Ontology:HP:0000010,Human_Phenotype_Ontology:HP:0000094,MedGen:C0262655 1 1 1.0000 condition_record_support_limited 20 0 1 Recurrent_urinary_tract_infections 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBF3 mondo_mondo_0008006_medgen_c0221060_omim_157900_orphanet_570 Oromandibular-limb hypogenesis spectrum MONDO:MONDO:0008006,MedGen:C0221060,OMIM:157900,Orphanet:570 1 1 1.0000 condition_record_support_limited 20 0 1 Oromandibular-limb_hypogenesis_spectrum 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBF3 human_phenotype_ontology_hp_0000011_medgen_c0005697 Neurogenic bladder Human_Phenotype_Ontology:HP:0000011,MedGen:C0005697 1 1 1.0000 condition_record_support_limited 20 0 1 Neurogenic_bladder 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBF3 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBF3 human_phenotype_ontology_hp_0000201_mondo_mondo_0009869_medgen_c0031900_omim_261800_orphanet_718 Isolated Pierre-Robin syndrome Human_Phenotype_Ontology:HP:0000201,MONDO:MONDO:0009869,MedGen:C0031900,OMIM:261800,Orphanet:718 1 1 1.0000 condition_record_support_limited 20 0 1 Isolated_Pierre-Robin_syndrome 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBF3 hhypotonia_ataxia_and_delayed_development_syndrome Hhypotonia, ataxia, and delayed development syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 Hhypotonia,_ataxia,_and_delayed_development_syndrome 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBF3 human_phenotype_ontology_hp_0001507_human_phenotype_ontology_hp_0008904_medgen_c0262361 Growth abnormality Human_Phenotype_Ontology:HP:0001507,Human_Phenotype_Ontology:HP:0008904,MedGen:C0262361 1 1 1.0000 condition_record_support_limited 20 0 1 Growth_abnormality 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBF3 human_phenotype_ontology_hp_0002376_human_phenotype_ontology_hp_0002471_human_phenotype_ontology_hp_0002489_human_phenotype_ontology_hp_0006797_human_phenotype_ontology_hp_0006828_human_phenotype_ontology_hp_0006854_human_phenotype_ontology_hp_0007037_human_phenotype_ontology_hp_0007242_human_phenotype_ontology_hp_0007247_medgen_c1836830 Developmental regression Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_regression 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBF3 human_phenotype_ontology_hp_0002019_human_phenotype_ontology_hp_0002241_human_phenotype_ontology_hp_0003786_mondo_mondo_0002203_medgen_c0009806 Constipation Human_Phenotype_Ontology:HP:0002019,Human_Phenotype_Ontology:HP:0002241,Human_Phenotype_Ontology:HP:0003786,MONDO:MONDO:0002203,MedGen:C0009806 1 1 1.0000 condition_record_support_limited 20 0 1 Constipation 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBF3 human_phenotype_ontology_hp_0002136_medgen_c0856863 Broad-based gait Human_Phenotype_Ontology:HP:0002136,MedGen:C0856863 1 1 1.0000 condition_record_support_limited 20 0 1 Broad-based_gait 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBF3 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EBF3 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EARS2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EARS2 human_phenotype_ontology_hp_0011220_human_phenotype_ontology_hp_0200061_medgen_c1837260 Prominent forehead Human_Phenotype_Ontology:HP:0011220,Human_Phenotype_Ontology:HP:0200061,MedGen:C1837260 1 1 1.0000 condition_record_support_limited 20 0 1 Prominent_forehead 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EARS2 human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Motor delay Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 1.0000 condition_record_support_limited 20 0 1 Motor_delay 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EARS2 human_phenotype_ontology_hp_0200085_medgen_c0235081 Limb tremor Human_Phenotype_Ontology:HP:0200085,MedGen:C0235081 1 1 1.0000 condition_record_support_limited 20 0 1 Limb_tremor 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EARS2 human_phenotype_ontology_hp_0000156_human_phenotype_ontology_hp_0000218_human_phenotype_ontology_hp_0009080_human_phenotype_ontology_hp_0009082_human_phenotype_ontology_hp_0009097_medgen_c0240635 High palate Human_Phenotype_Ontology:HP:0000156,Human_Phenotype_Ontology:HP:0000218,Human_Phenotype_Ontology:HP:0009080,Human_Phenotype_Ontology:HP:0009082,Human_Phenotype_Ontology:HP:0009097,MedGen:C0240635 1 1 1.0000 condition_record_support_limited 20 0 1 High_palate 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EARS2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EARS2 ears2_related_disorder EARS2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 EARS2-related_disorder 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EARS2 human_phenotype_ontology_hp_0001306_human_phenotype_ontology_hp_0002069_human_phenotype_ontology_hp_0002407_human_phenotype_ontology_hp_0007252_medgen_c0494475 Bilateral tonic-clonic seizure Human_Phenotype_Ontology:HP:0001306,Human_Phenotype_Ontology:HP:0002069,Human_Phenotype_Ontology:HP:0002407,Human_Phenotype_Ontology:HP:0007252,MedGen:C0494475 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_tonic-clonic_seizure 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EARS2 human_phenotype_ontology_hp_0000377_human_phenotype_ontology_hp_0000390_human_phenotype_ontology_hp_0000398_human_phenotype_ontology_hp_0004465_human_phenotype_ontology_hp_0008562_human_phenotype_ontology_hp_0008566_human_phenotype_ontology_hp_0008567_human_phenotype_ontology_hp_0008572_human_phenotype_ontology_hp_0008580_human_phenotype_ontology_hp_0008582_human_phenotype_ontology_hp_0008594_human_phenotype_ontology_hp_0008602_human_phenotype_ontology_hp_0040111_medgen_c0857379 Abnormal pinna morphology Human_Phenotype_Ontology:HP:0000377,Human_Phenotype_Ontology:HP:0000390,Human_Phenotype_Ontology:HP:0000398,Human_Phenotype_Ontology:HP:0004465,Human_Phenotype_Ontology:HP:0008562,Human_Phenotype_Ontology:HP:0008566,Human_Phenotype_Ontology:HP:0008567,Human_Phenotype_Ontology:HP:0008572,Human_Phenotype_Ontology:HP:0008580,Human_Phenotype_Ontology:HP:0008582,Human_Phenotype_Ontology:HP:0008594,Human_Phenotype_Ontology:HP:0008602,Human_Phenotype_Ontology:HP:0040111,MedGen:C0857379 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_pinna_morphology 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture EARS2 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture E4F1 mondo_mondo_0019169_medgen_c0034345_omim_ps312170_orphanet_765_orphanet_79243 Pyruvate dehydrogenase complex deficiency MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:765,Orphanet:79243 1 1 1.0000 condition_record_support_limited 20 0 0 Pyruvate_dehydrogenase_complex_deficiency 1 low_record_burden_interpretation_limited low_record_burden_gene E2F6 mondo_mondo_0032664_medgen_c4749028_omim_618300 Ciliary dyskinesia, primary, 40 MONDO:MONDO:0032664,MedGen:C4749028,OMIM:618300 1 1 1.0000 condition_record_support_limited 20 0 0 Ciliary_dyskinesia,_primary,_40 1 low_record_burden_interpretation_limited low_record_burden_gene DYSF human_phenotype_ontology_hp_0003432_human_phenotype_ontology_hp_0003475_human_phenotype_ontology_hp_0003701_human_phenotype_ontology_hp_0007195_human_phenotype_ontology_hp_0008950_human_phenotype_ontology_hp_0008961_human_phenotype_ontology_hp_0008975_human_phenotype_ontology_hp_0009033_human_phenotype_ontology_hp_0009075_medgen_c0221629 Proximal muscle weakness Human_Phenotype_Ontology:HP:0003432,Human_Phenotype_Ontology:HP:0003475,Human_Phenotype_Ontology:HP:0003701,Human_Phenotype_Ontology:HP:0007195,Human_Phenotype_Ontology:HP:0008950,Human_Phenotype_Ontology:HP:0008961,Human_Phenotype_Ontology:HP:0008975,Human_Phenotype_Ontology:HP:0009033,Human_Phenotype_Ontology:HP:0009075,MedGen:C0221629 1 1 1.0000 condition_record_support_limited 20 0 1 Proximal_muscle_weakness 913 large_gene_or_donor_burden_stress_case donor_burden_stress DYSF human_phenotype_ontology_hp_0008939_human_phenotype_ontology_hp_0008982_human_phenotype_ontology_hp_0009049_medgen_c1389118 Peroneal muscle atrophy Human_Phenotype_Ontology:HP:0008939,Human_Phenotype_Ontology:HP:0008982,Human_Phenotype_Ontology:HP:0009049,MedGen:C1389118 1 1 1.0000 condition_record_support_limited 20 0 1 Peroneal_muscle_atrophy 913 large_gene_or_donor_burden_stress_case donor_burden_stress DYSF human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Muscular dystrophy Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 1 1 1.0000 condition_record_support_limited 20 0 1 Muscular_dystrophy 913 large_gene_or_donor_burden_stress_case donor_burden_stress DYSF human_phenotype_ontology_hp_0003377_human_phenotype_ontology_hp_0009027_medgen_c1866141 Foot dorsiflexor weakness Human_Phenotype_Ontology:HP:0003377,Human_Phenotype_Ontology:HP:0009027,MedGen:C1866141 1 1 1.0000 condition_record_support_limited 20 0 1 Foot_dorsiflexor_weakness 913 large_gene_or_donor_burden_stress_case donor_burden_stress DYSF human_phenotype_ontology_hp_0030114_medgen_c4022631 Absent muscle fiber dysferlin Human_Phenotype_Ontology:HP:0030114,MedGen:C4022631 1 1 1.0000 condition_record_support_limited 20 0 1 Absent_muscle_fiber_dysferlin 913 large_gene_or_donor_burden_stress_case donor_burden_stress DYRK1B condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene DYRK1A human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Microphthalmia Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 1 1 1.0000 condition_record_support_limited 20 0 1 Microphthalmia 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYRK1A human_phenotype_ontology_hp_0002197_human_phenotype_ontology_hp_0002409_human_phenotype_ontology_hp_0007114_human_phenotype_ontology_hp_0007339_medgen_c0234533 Generalized-onset seizure Human_Phenotype_Ontology:HP:0002197,Human_Phenotype_Ontology:HP:0002409,Human_Phenotype_Ontology:HP:0007114,Human_Phenotype_Ontology:HP:0007339,MedGen:C0234533 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized-onset_seizure 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYRK1A mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 258 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNLT2B mondo_mondo_0013127_medgen_c0036069_omim_613091_orphanet_474_orphanet_93269_orphanet_93270_orphanet_93271 Asphyxiating thoracic dystrophy 3 MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271 1 1 1.0000 condition_record_support_limited 20 0 1 Asphyxiating_thoracic_dystrophy_3 8 low_record_burden_interpretation_limited low_record_burden_gene DYNC2I2 dync2i2_related_disorder DYNC2I2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DYNC2I2-related_disorder 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC2I1 dync2i1_related_disorder DYNC2I1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 DYNC2I1-related_disorder 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC2I1 cystic_renal_disease Cystic renal disease . 1 1 1.0000 condition_record_support_limited 20 0 0 Cystic_renal_disease 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYNC2H1 human_phenotype_ontology_hp_0000773_human_phenotype_ontology_hp_0000899_human_phenotype_ontology_hp_0000908_human_phenotype_ontology_hp_0009750_medgen_c0426817 Short ribs Human_Phenotype_Ontology:HP:0000773,Human_Phenotype_Ontology:HP:0000899,Human_Phenotype_Ontology:HP:0000908,Human_Phenotype_Ontology:HP:0009750,MedGen:C0426817 1 1 1.0000 condition_record_support_limited 20 0 1 Short_ribs 566 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC2H1 mondo_mondo_0015461_medgen_c0036996_orphanet_1505 Short rib-polydactyly syndrome MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505 1 1 1.0000 condition_record_support_limited 20 0 1 Short_rib-polydactyly_syndrome 566 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC2H1 human_phenotype_ontology_hp_0000949_human_phenotype_ontology_hp_0003026_human_phenotype_ontology_hp_0004983_human_phenotype_ontology_hp_0004988_human_phenotype_ontology_hp_0005000_human_phenotype_ontology_hp_0005029_human_phenotype_ontology_hp_0005044_human_phenotype_ontology_hp_0005052_human_phenotype_ontology_hp_0005077_human_phenotype_ontology_hp_0005083_human_phenotype_ontology_hp_0005647_human_phenotype_ontology_hp_0005822_human_phenotype_ontology_hp_0006382_human_phenotype_ontology_hp_0006457_human_phenotype_ontology_hp_0006472_medgen_c1854912 Short long bone Human_Phenotype_Ontology:HP:0000949,Human_Phenotype_Ontology:HP:0003026,Human_Phenotype_Ontology:HP:0004983,Human_Phenotype_Ontology:HP:0004988,Human_Phenotype_Ontology:HP:0005000,Human_Phenotype_Ontology:HP:0005029,Human_Phenotype_Ontology:HP:0005044,Human_Phenotype_Ontology:HP:0005052,Human_Phenotype_Ontology:HP:0005077,Human_Phenotype_Ontology:HP:0005083,Human_Phenotype_Ontology:HP:0005647,Human_Phenotype_Ontology:HP:0005822,Human_Phenotype_Ontology:HP:0006382,Human_Phenotype_Ontology:HP:0006457,Human_Phenotype_Ontology:HP:0006472,MedGen:C1854912 1 1 1.0000 condition_record_support_limited 20 0 1 Short_long_bone 566 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC2H1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 566 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC2H1 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_disorder 566 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC2H1 human_phenotype_ontology_hp_0002643_medgen_c4281993 Neonatal respiratory distress Human_Phenotype_Ontology:HP:0002643,MedGen:C4281993 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_respiratory_distress 566 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC2H1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 566 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC2H1 human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 1.0000 condition_record_support_limited 20 0 1 Heart,_malformation_of 566 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC2H1 human_phenotype_ontology_hp_0000886_medgen_c1838659 Deformed rib cage Human_Phenotype_Ontology:HP:0000886,MedGen:C1838659 1 1 1.0000 condition_record_support_limited 20 0 1 Deformed_rib_cage 566 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC2H1 mondo_mondo_0009889_mesh_d017044_medgen_c0085548_orphanet_731_orphanet_8378 Autosomal recessive polycystic kidney disease MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_polycystic_kidney_disease 566 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC2H1 mondo_mondo_0014591_medgen_c4225363_omim_616331_orphanet_3107_orphanet_97360 Autosomal dominant Robinow syndrome 2 MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_Robinow_syndrome_2 566 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC2H1 mondo_mondo_0013441_medgen_c3151185_omim_613819_orphanet_474 Asphyxiating thoracic dystrophy 4 MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819,Orphanet:474 1 1 1.0000 condition_record_support_limited 20 0 1 Asphyxiating_thoracic_dystrophy_4 566 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC2H1 mondo_mondo_0012434_medgen_c1857777_omim_610193 Arrhythmogenic right ventricular dysplasia 10 MONDO:MONDO:0012434,MedGen:C1857777,OMIM:610193 1 1 1.0000 condition_record_support_limited 20 0 0 Arrhythmogenic_right_ventricular_dysplasia_10 566 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC2H1 human_phenotype_ontology_hp_0002088_medgen_c4021760 Abnormality of the lung Human_Phenotype_Ontology:HP:0002088,MedGen:C4021760 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_lung 566 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC1I2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene DYNC1H1 human_phenotype_ontology_hp_0007269_mondo_mondo_0001516_mesh_d009134_medgen_c0026847_omim_ps253300 Spinal muscular atrophy Human_Phenotype_Ontology:HP:0007269,MONDO:MONDO:0001516,MeSH:D009134,MedGen:C0026847,OMIM:PS253300 1 1 1.0000 condition_record_support_limited 20 0 1 Spinal_muscular_atrophy 176 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC1H1 human_phenotype_ontology_hp_0003323_human_phenotype_ontology_hp_0009032_medgen_c0240421 Progressive muscle weakness Human_Phenotype_Ontology:HP:0003323,Human_Phenotype_Ontology:HP:0009032,MedGen:C0240421 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_muscle_weakness 176 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC1H1 human_phenotype_ontology_hp_0002126_mondo_mondo_0000087_medgen_c0266464_orphanet_35981 Polymicrogyria Human_Phenotype_Ontology:HP:0002126,MONDO:MONDO:0000087,MedGen:C0266464,Orphanet:35981 1 1 1.0000 condition_record_support_limited 20 0 1 Polymicrogyria 176 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC1H1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 176 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC1H1 human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Motor delay Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 1.0000 condition_record_support_limited 20 0 1 Motor_delay 176 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC1H1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 176 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC1H1 mondo_mondo_0014407_medgen_c4014738_omim_615937_orphanet_83473 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MONDO:MONDO:0014407,MedGen:C4014738,OMIM:615937,Orphanet:83473 1 1 1.0000 condition_record_support_limited 20 0 1 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_2 176 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC1H1 human_phenotype_ontology_hp_0002065_human_phenotype_ontology_hp_0002477_human_phenotype_ontology_hp_0007340_human_phenotype_ontology_hp_0009047_medgen_c1836296 Lower limb muscle weakness Human_Phenotype_Ontology:HP:0002065,Human_Phenotype_Ontology:HP:0002477,Human_Phenotype_Ontology:HP:0007340,Human_Phenotype_Ontology:HP:0009047,MedGen:C1836296 1 1 1.0000 condition_record_support_limited 20 0 0 Lower_limb_muscle_weakness 176 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC1H1 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 176 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC1H1 mondo_mondo_0015358_medgen_c0027888 Hereditary motor and sensory neuropathy MONDO:MONDO:0015358,MedGen:C0027888 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_motor_and_sensory_neuropathy 176 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC1H1 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 176 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC1H1 human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Delayed gross motor development Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_gross_motor_development 176 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC1H1 dync1h1_related_neurodevelopmental_disorders DYNC1H1-related neurodevelopmental disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 DYNC1H1-related_neurodevelopmental_disorders 176 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC1H1 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease 176 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC1H1 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 176 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC1H1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 176 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC1H1 human_phenotype_ontology_hp_0002269_human_phenotype_ontology_hp_0007317_medgen_c1837249 Abnormality of neuronal migration Human_Phenotype_Ontology:HP:0002269,Human_Phenotype_Ontology:HP:0007317,MedGen:C1837249 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_neuronal_migration 176 large_gene_or_donor_burden_stress_case donor_burden_stress DYNC1H1 human_phenotype_ontology_hp_0002060_medgen_c4021762 Abnormal cerebral morphology Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_cerebral_morphology 176 large_gene_or_donor_burden_stress_case donor_burden_stress DYM mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DYM human_phenotype_ontology_hp_0011142_mondo_mondo_0011060_medgen_c1832423_omim_601371_orphanet_91492 Early-onset non-syndromic cataract Human_Phenotype_Ontology:HP:0011142,MONDO:MONDO:0011060,MedGen:C1832423,OMIM:601371,Orphanet:91492 1 1 1.0000 condition_record_support_limited 20 0 1 Early-onset_non-syndromic_cataract 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DVL3 human_phenotype_ontology_hp_0010804_human_phenotype_ontology_hp_0100895_medgen_c1839767 Tented upper lip vermilion Human_Phenotype_Ontology:HP:0010804,Human_Phenotype_Ontology:HP:0100895,MedGen:C1839767 1 1 1.0000 condition_record_support_limited 20 0 1 Tented_upper_lip_vermilion 19 low_record_burden_interpretation_limited low_record_burden_gene DVL3 human_phenotype_ontology_hp_0001767_human_phenotype_ontology_hp_0001781_human_phenotype_ontology_hp_0001831_human_phenotype_ontology_hp_0001855_human_phenotype_ontology_hp_0004701_human_phenotype_ontology_hp_0005889_human_phenotype_ontology_hp_0008099_medgen_c1836195 Short toe Human_Phenotype_Ontology:HP:0001767,Human_Phenotype_Ontology:HP:0001781,Human_Phenotype_Ontology:HP:0001831,Human_Phenotype_Ontology:HP:0001855,Human_Phenotype_Ontology:HP:0004701,Human_Phenotype_Ontology:HP:0005889,Human_Phenotype_Ontology:HP:0008099,MedGen:C1836195 1 1 1.0000 condition_record_support_limited 20 0 1 Short_toe 19 low_record_burden_interpretation_limited low_record_burden_gene DVL3 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 19 low_record_burden_interpretation_limited low_record_burden_gene DVL3 human_phenotype_ontology_hp_0004098_human_phenotype_ontology_hp_0006015_human_phenotype_ontology_hp_0009381_medgen_c1844548 Short finger Human_Phenotype_Ontology:HP:0004098,Human_Phenotype_Ontology:HP:0006015,Human_Phenotype_Ontology:HP:0009381,MedGen:C1844548 1 1 1.0000 condition_record_support_limited 20 0 1 Short_finger 19 low_record_burden_interpretation_limited low_record_burden_gene DVL3 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 19 low_record_burden_interpretation_limited low_record_burden_gene DVL3 human_phenotype_ontology_hp_0011800_human_phenotype_ontology_hp_0040199_medgen_c1853242 Midface retrusion Human_Phenotype_Ontology:HP:0011800,Human_Phenotype_Ontology:HP:0040199,MedGen:C1853242 1 1 1.0000 condition_record_support_limited 20 0 1 Midface_retrusion 19 low_record_burden_interpretation_limited low_record_burden_gene DVL3 human_phenotype_ontology_hp_0002938_human_phenotype_ontology_hp_0002941_human_phenotype_ontology_hp_0004560_human_phenotype_ontology_hp_0004574_human_phenotype_ontology_hp_0004596_medgen_c1184923 Lumbar hyperlordosis Human_Phenotype_Ontology:HP:0002938,Human_Phenotype_Ontology:HP:0002941,Human_Phenotype_Ontology:HP:0004560,Human_Phenotype_Ontology:HP:0004574,Human_Phenotype_Ontology:HP:0004596,MedGen:C1184923 1 1 1.0000 condition_record_support_limited 20 0 1 Lumbar_hyperlordosis 19 low_record_burden_interpretation_limited low_record_burden_gene DVL3 human_phenotype_ontology_hp_0002857_human_phenotype_ontology_hp_0004999_medgen_c0576093 Genu valgum Human_Phenotype_Ontology:HP:0002857,Human_Phenotype_Ontology:HP:0004999,MedGen:C0576093 1 1 1.0000 condition_record_support_limited 20 0 1 Genu_valgum 19 low_record_burden_interpretation_limited low_record_burden_gene DVL3 human_phenotype_ontology_hp_0000678_medgen_c0040433 Dental crowding Human_Phenotype_Ontology:HP:0000678,MedGen:C0040433 1 1 1.0000 condition_record_support_limited 20 0 1 Dental_crowding 19 low_record_burden_interpretation_limited low_record_burden_gene DVL3 human_phenotype_ontology_hp_0001158_human_phenotype_ontology_hp_0001588_human_phenotype_ontology_hp_0004209_human_phenotype_ontology_hp_0004212_human_phenotype_ontology_hp_0006083_human_phenotype_ontology_hp_0006181_human_phenotype_ontology_hp_0009181_medgen_c1850049 Clinodactyly of the 5th finger Human_Phenotype_Ontology:HP:0001158,Human_Phenotype_Ontology:HP:0001588,Human_Phenotype_Ontology:HP:0004209,Human_Phenotype_Ontology:HP:0004212,Human_Phenotype_Ontology:HP:0006083,Human_Phenotype_Ontology:HP:0006181,Human_Phenotype_Ontology:HP:0009181,MedGen:C1850049 1 1 1.0000 condition_record_support_limited 20 0 1 Clinodactyly_of_the_5th_finger 19 low_record_burden_interpretation_limited low_record_burden_gene DVL3 human_phenotype_ontology_hp_0000427_human_phenotype_ontology_hp_0000435_human_phenotype_ontology_hp_0000441_human_phenotype_ontology_hp_0000463_medgen_c1840077 Anteverted nares Human_Phenotype_Ontology:HP:0000427,Human_Phenotype_Ontology:HP:0000435,Human_Phenotype_Ontology:HP:0000441,Human_Phenotype_Ontology:HP:0000463,MedGen:C1840077 1 1 1.0000 condition_record_support_limited 20 0 1 Anteverted_nares 19 low_record_burden_interpretation_limited low_record_burden_gene DVL2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene DVL2 acadvl_related_disorder ACADVL-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ACADVL-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene DVL1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DUT mondo_mondo_0859288_medgen_c5774218_omim_620044 Bone marrow failure and diabetes mellitus syndrome MONDO:MONDO:0859288,MedGen:C5774218,OMIM:620044 1 1 1.0000 condition_record_support_limited 20 0 0 Bone_marrow_failure_and_diabetes_mellitus_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene DUSP6 mondo_mondo_0014105_medgen_c3808981_omim_615269_orphanet_478 Hypogonadotropic hypogonadism 19 with or without anosmia MONDO:MONDO:0014105,MedGen:C3808981,OMIM:615269,Orphanet:478 1 1 1.0000 condition_record_support_limited 20 0 0 Hypogonadotropic_hypogonadism_19_with_or_without_anosmia 1 low_record_burden_interpretation_limited low_record_burden_gene DUS4L mondo_mondo_0013325_medgen_c3150876_omim_613612_orphanet_263487 COG5-congenital disorder of glycosylation MONDO:MONDO:0013325,MedGen:C3150876,OMIM:613612,Orphanet:263487 1 1 1.0000 condition_record_support_limited 20 0 0 COG5-congenital_disorder_of_glycosylation 1 low_record_burden_interpretation_limited low_record_burden_gene DUS1L human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 1 low_record_burden_interpretation_limited low_record_burden_gene DUS1L human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene DUS1L human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 1 low_record_burden_interpretation_limited low_record_burden_gene DUOXA2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 27 compact_adjacent_exon_block_opportunity local_compact_architecture DTNBP1 mondo_mondo_0019312_medgen_c0079504_omim_ps203300_orphanet_79430 Hermansky-Pudlak syndrome MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430 1 1 1.0000 condition_record_support_limited 20 0 1 Hermansky-Pudlak_syndrome 15 low_record_burden_interpretation_limited low_record_burden_gene DTNA mondo_mondo_0975830_medgen_c5975449_omim_620971 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 MONDO:MONDO:0975830,MedGen:C5975449,OMIM:620971 1 1 1.0000 condition_record_support_limited 20 0 0 Myopathy_with_myalgia,_increased_serum_creatine_kinase,_and_with_or_without_episodic_rhabdomyolysis_2 1 low_record_burden_interpretation_limited low_record_burden_gene DSTYK mondo_mondo_0010046_medgen_c0796019_omim_270750_orphanet_101003 Hereditary spastic paraplegia 23 MONDO:MONDO:0010046,MedGen:C0796019,OMIM:270750,Orphanet:101003 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia_23 6 low_record_burden_interpretation_limited low_record_burden_gene DST mondo_mondo_0005301_medgen_c0026769 Multiple sclerosis MONDO:MONDO:0005301,MedGen:C0026769 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_sclerosis 196 large_gene_or_donor_burden_stress_case donor_burden_stress DST human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 196 large_gene_or_donor_burden_stress_case donor_burden_stress DST human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 196 large_gene_or_donor_burden_stress_case donor_burden_stress DST mondo_mondo_0018894_medgen_c0393541_orphanet_53739 Distal spinal muscular atrophy MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_spinal_muscular_atrophy 196 large_gene_or_donor_burden_stress_case donor_burden_stress DST human_phenotype_ontology_hp_0002803_mondo_mondo_0022823_medgen_c0332878 Congenital contracture Human_Phenotype_Ontology:HP:0002803,MONDO:MONDO:0022823,MedGen:C0332878 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_contracture 196 large_gene_or_donor_burden_stress_case donor_burden_stress DST human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy 196 large_gene_or_donor_burden_stress_case donor_burden_stress DSPP monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSPP autosomal_dominant_dspp_related_disorders Autosomal dominant DSPP-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_DSPP-related_disorders 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSP efo_the_experimental_factor_ontology_efo_0005306_human_phenotype_ontology_hp_0004756_mondo_mondo_0005477_medgen_c0042514 Ventricular tachycardia EFO:_The_Experimental_Factor_Ontology:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514 1 1 1.0000 condition_record_support_limited 20 0 1 Ventricular_tachycardia 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSP efo_the_experimental_factor_ontology_efo_0004287_human_phenotype_ontology_hp_0001663_human_phenotype_ontology_hp_0005166_mondo_mondo_0000190_medgen_c0042510 Ventricular fibrillation EFO:_The_Experimental_Factor_Ontology:EFO_0004287,Human_Phenotype_Ontology:HP:0001663,Human_Phenotype_Ontology:HP:0005166,MONDO:MONDO:0000190,MedGen:C0042510 1 1 1.0000 condition_record_support_limited 20 0 1 Ventricular_fibrillation 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSP human_phenotype_ontology_hp_0004308_medgen_c0085612 Ventricular arrhythmia Human_Phenotype_Ontology:HP:0004308,MedGen:C0085612 1 1 1.0000 condition_record_support_limited 20 0 1 Ventricular_arrhythmia 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSP efo_the_experimental_factor_ontology_efo_0004278_human_phenotype_ontology_hp_0001645_human_phenotype_ontology_hp_0005161_mesh_d016757_medgen_c0085298 Sudden cardiac death EFO:_The_Experimental_Factor_Ontology:EFO_0004278,Human_Phenotype_Ontology:HP:0001645,Human_Phenotype_Ontology:HP:0005161,MeSH:D016757,MedGen:C0085298 1 1 1.0000 condition_record_support_limited 20 0 1 Sudden_cardiac_death 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSP mondo_mondo_0011882_medgen_c4755263_orphanet_293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome MONDO:MONDO:0011882,MedGen:C4755263,Orphanet:293165 1 1 1.0000 condition_record_support_limited 20 0 1 Skin_fragility-woolly_hair-palmoplantar_keratoderma_syndrome 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSP human_phenotype_ontology_hp_0011663_medgen_c2063326 Right ventricular cardiomyopathy Human_Phenotype_Ontology:HP:0011663,MedGen:C2063326 1 1 1.0000 condition_record_support_limited 20 0 1 Right_ventricular_cardiomyopathy 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSP mondo_mondo_0019490_medgen_cn230454_omim_ps113900_orphanet_871 Progressive familial heart block MONDO:MONDO:0019490,MedGen:CN230454,OMIM:PS113900,Orphanet:871 1 1 1.0000 condition_record_support_limited 20 0 0 Progressive_familial_heart_block 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSP mondo_mondo_0005418_medgen_c4324548 Non-compaction cardiomyopathy MONDO:MONDO:0005418,MedGen:C4324548 1 1 1.0000 condition_record_support_limited 20 0 0 Non-compaction_cardiomyopathy 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSP mondo_mondo_0100316_medgen_c4551647_omim_192500_orphanet_101016_orphanet_768 Long QT syndrome 1 MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768 1 1 1.0000 condition_record_support_limited 20 0 1 Long_QT_syndrome_1 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSP mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 1.0000 condition_record_support_limited 20 0 1 Long_QT_syndrome 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSP human_phenotype_ontology_hp_0011664_medgen_c4021133 Left ventricular noncompaction cardiomyopathy Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133 1 1 1.0000 condition_record_support_limited 20 0 1 Left_ventricular_noncompaction_cardiomyopathy 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSP human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSP mondo_mondo_0011400_medgen_c1858763_omim_604145_orphanet_154 Dilated cardiomyopathy 1G MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154 1 1 1.0000 condition_record_support_limited 20 0 0 Dilated_cardiomyopathy_1G 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSP mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 Dilated cardiomyopathy 1A MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 1 1 1.0000 condition_record_support_limited 20 0 1 Dilated_cardiomyopathy_1A 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSP dsp_related_cardiomyopathy DSP-related cardiomyopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 DSP-related_cardiomyopathy 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSP dsp_related_arrhythmogenic_cardiomyopathy DSP-related arrhythmogenic cardiomyopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 DSP-related_arrhythmogenic_cardiomyopathy 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSP human_phenotype_ontology_hp_0001695_mondo_mondo_0000745_medgen_c0018790 Cardiac arrest Human_Phenotype_Ontology:HP:0001695,MONDO:MONDO:0000745,MedGen:C0018790 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiac_arrest 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSP human_phenotype_ontology_hp_0001647_medgen_c0149630 Bicuspid aortic valve Human_Phenotype_Ontology:HP:0001647,MedGen:C0149630 1 1 1.0000 condition_record_support_limited 20 0 1 Bicuspid_aortic_valve 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSP human_phenotype_ontology_hp_0001724_medgen_c0265004 Aortic dilatation Human_Phenotype_Ontology:HP:0001724,MedGen:C0265004 1 1 1.0000 condition_record_support_limited 20 0 1 Aortic_dilatation 816 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DSG4 human_phenotype_ontology_hp_0000968_human_phenotype_ontology_hp_0007436_human_phenotype_ontology_hp_0007615_mondo_mondo_0019287_medgen_c0013575_omim_ps305100_orphanet_79373 Ectodermal dysplasia Human_Phenotype_Ontology:HP:0000968,Human_Phenotype_Ontology:HP:0007436,Human_Phenotype_Ontology:HP:0007615,MONDO:MONDO:0019287,MedGen:C0013575,OMIM:PS305100,Orphanet:79373 1 1 1.0000 condition_record_support_limited 20 0 0 Ectodermal_dysplasia 17 low_record_burden_interpretation_limited low_record_burden_gene DSG3 mondo_mondo_0030986_medgen_c5543184_omim_619226 Blistering, acantholytic, of oral and laryngeal mucosa MONDO:MONDO:0030986,MedGen:C5543184,OMIM:619226 1 1 1.0000 condition_record_support_limited 20 0 0 Blistering,_acantholytic,_of_oral_and_laryngeal_mucosa 1 low_record_burden_interpretation_limited low_record_burden_gene DSG2 efo_efo_0004278_human_phenotype_ontology_hp_0001645_human_phenotype_ontology_hp_0005161_mesh_d016757_medgen_c0085298 Sudden cardiac death EFO:EFO_0004278,Human_Phenotype_Ontology:HP:0001645,Human_Phenotype_Ontology:HP:0005161,MeSH:D016757,MedGen:C0085298 1 1 1.0000 condition_record_support_limited 20 0 0 Sudden_cardiac_death 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSG2 mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 1.0000 condition_record_support_limited 20 0 0 Long_QT_syndrome 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSG2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSG2 mondo_mondo_0012180_medgen_c1836906_omim_609040 Arrhythmogenic right ventricular dysplasia 9 MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040 1 1 1.0000 condition_record_support_limited 20 0 1 Arrhythmogenic_right_ventricular_dysplasia_9 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSG1 mondo_mondo_0019268_medgen_c5681492_orphanet_79353 Epidermal disease MONDO:MONDO:0019268,MedGen:C5681492,Orphanet:79353 1 1 1.0000 condition_record_support_limited 20 0 1 Epidermal_disease 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSG1 human_phenotype_ontology_hp_0007435_human_phenotype_ontology_hp_0007447_mondo_mondo_0017666_medgen_c0022584_orphanet_307141 Diffuse palmoplantar hyperkeratosis Human_Phenotype_Ontology:HP:0007435,Human_Phenotype_Ontology:HP:0007447,MONDO:MONDO:0017666,MedGen:C0022584,Orphanet:307141 1 1 1.0000 condition_record_support_limited 20 0 1 Diffuse_palmoplantar_hyperkeratosis 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSG1 human_phenotype_ontology_hp_0001647_medgen_c0149630 Bicuspid aortic valve Human_Phenotype_Ontology:HP:0001647,MedGen:C0149630 1 1 1.0000 condition_record_support_limited 20 0 1 Bicuspid_aortic_valve 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSG1 human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Abnormality of the skin Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_skin 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSE mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 15 low_record_burden_interpretation_limited low_record_burden_gene DSCAM condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 6 low_record_burden_interpretation_limited low_record_burden_gene DSCAM dscam_related_disorder DSCAM-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 DSCAM-related_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene DSCAM human_phenotype_ontology_hp_0002029_human_phenotype_ontology_hp_0002030_human_phenotype_ontology_hp_0002251_human_phenotype_ontology_hp_0002606_human_phenotype_ontology_hp_0004391_mondo_mondo_0018309_mesh_d006627_medgen_c0019569_omim_ps142623_orphanet_388 Aganglionic megacolon Human_Phenotype_Ontology:HP:0002029,Human_Phenotype_Ontology:HP:0002030,Human_Phenotype_Ontology:HP:0002251,Human_Phenotype_Ontology:HP:0002606,Human_Phenotype_Ontology:HP:0004391,MONDO:MONDO:0018309,MeSH:D006627,MedGen:C0019569,OMIM:PS142623,Orphanet:388 1 1 1.0000 condition_record_support_limited 20 0 0 Aganglionic_megacolon 6 low_record_burden_interpretation_limited low_record_burden_gene DSC2 mondo_mondo_0016342_medgen_c4274968_omim_ps107970_orphanet_217656 Familial isolated arrhythmogenic right ventricular dysplasia MONDO:MONDO:0016342,MedGen:C4274968,OMIM:PS107970,Orphanet:217656 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_isolated_arrhythmogenic_right_ventricular_dysplasia 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSC2 dsc2_related_disorder DSC2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 DSC2-related_disorder 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSC2 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 1.0000 condition_record_support_limited 20 0 0 Cardiomyopathy 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSC2 medgen_c3552311 Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair MedGen:C3552311 1 1 1.0000 condition_record_support_limited 20 0 0 Arrhythmogenic_right_ventricular_dysplasia,_familial,_11,_with_mild_palmoplantar_keratoderma_and_woolly_hair 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DSC2 arrhythmogenic_right_ventricular_dysplasia_familial_11_with_or_without_mild_palmoplantar_keratoderma ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA . 1 1 1.0000 condition_record_support_limited 20 0 1 ARRHYTHMOGENIC_RIGHT_VENTRICULAR_DYSPLASIA,_FAMILIAL,_11,_WITH_OR_WITHOUT_MILD_PALMOPLANTAR_KERATODERMA 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DRP2 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease 17 low_record_burden_interpretation_limited low_record_burden_gene DROSHA mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_breast_ovarian_cancer_syndrome 9 low_record_burden_interpretation_limited low_record_burden_gene DROSHA human_phenotype_ontology_hp_0002884_mondo_mondo_0018666_medgen_c0206624_orphanet_449 Hepatoblastoma Human_Phenotype_Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624,Orphanet:449 1 1 1.0000 condition_record_support_limited 20 0 0 Hepatoblastoma 9 low_record_burden_interpretation_limited low_record_burden_gene DRG1 human_phenotype_ontology_hp_0001371_human_phenotype_ontology_hp_0001372_human_phenotype_ontology_hp_0001381_human_phenotype_ontology_hp_0005053_human_phenotype_ontology_hp_0005189_human_phenotype_ontology_hp_0005660_medgen_c0333068 Flexion contracture Human_Phenotype_Ontology:HP:0001371,Human_Phenotype_Ontology:HP:0001372,Human_Phenotype_Ontology:HP:0001381,Human_Phenotype_Ontology:HP:0005053,Human_Phenotype_Ontology:HP:0005189,Human_Phenotype_Ontology:HP:0005660,MedGen:C0333068 1 1 1.0000 condition_record_support_limited 20 0 0 Flexion_contracture 5 low_record_burden_interpretation_limited low_record_burden_gene DRD4 mondo_mondo_0100518_medgen_cn324066_omim_143465 Hereditary attention deficit-hyperactivity disorder MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_attention_deficit-hyperactivity_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene DRC4 gas8_related_disorder GAS8-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GAS8-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene DRC2 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_ciliary_dyskinesia 19 low_record_burden_interpretation_limited low_record_burden_gene DRC1 mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 Kartagener syndrome MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 0 Kartagener_syndrome 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DRAM2 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_disorder 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DRAM2 end_stage_retinitis_pigmentosa End-stage retinitis pigmentosa . 1 1 1.0000 condition_record_support_limited 20 0 0 End-stage_retinitis_pigmentosa 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DPYSL5 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene DPYSL5 mondo_mondo_0030331_medgen_c5561939_omim_619435 Ritscher-Schinzel syndrome 4 MONDO:MONDO:0030331,MedGen:C5561939,OMIM:619435 1 1 1.0000 condition_record_support_limited 20 0 1 Ritscher-Schinzel_syndrome_4 1 low_record_burden_interpretation_limited low_record_burden_gene DPYSL5 dpysl5_related_disorder DPYSL5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DPYSL5-related_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene DPYSL2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 1 low_record_burden_interpretation_limited low_record_burden_gene DPYD human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DPYD mondo_mondo_0027652_medgen_cn077983 Fluorouracil response MONDO:MONDO:0027652,MedGen:CN077983 1 1 1.0000 condition_record_support_limited 20 0 0 Fluorouracil_response 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DPYD 5_fluorouracil_response 5-fluorouracil response . 1 1 1.0000 condition_record_support_limited 20 0 1 5-fluorouracil_response 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DPT human_phenotype_ontology_hp_0000397_human_phenotype_ontology_hp_0000406_human_phenotype_ontology_hp_0000408_human_phenotype_ontology_hp_0008592_human_phenotype_ontology_hp_0008601_human_phenotype_ontology_hp_0008617_medgen_c1843156 Progressive sensorineural hearing impairment Human_Phenotype_Ontology:HP:0000397,Human_Phenotype_Ontology:HP:0000406,Human_Phenotype_Ontology:HP:0000408,Human_Phenotype_Ontology:HP:0008592,Human_Phenotype_Ontology:HP:0008601,Human_Phenotype_Ontology:HP:0008617,MedGen:C1843156 1 1 1.0000 condition_record_support_limited 20 0 0 Progressive_sensorineural_hearing_impairment 1 low_record_burden_interpretation_limited low_record_burden_gene DPRX human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene DPPA2 mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 1 low_record_burden_interpretation_limited low_record_burden_gene DPP9 susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 4 low_record_burden_interpretation_limited low_record_burden_gene DPP6 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene DPP6 mondo_mondo_0013063_medgen_c2751829_omim_612956_orphanet_228140 Ventricular fibrillation, paroxysmal familial, 2 MONDO:MONDO:0013063,MedGen:C2751829,OMIM:612956,Orphanet:228140 1 1 1.0000 condition_record_support_limited 20 0 1 Ventricular_fibrillation,_paroxysmal_familial,_2 2 low_record_burden_interpretation_limited low_record_burden_gene DPP6 mondo_mondo_0014580_medgen_c4225375_omim_616311 Intellectual disability, autosomal dominant 33 MONDO:MONDO:0014580,MedGen:C4225375,OMIM:616311 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_autosomal_dominant_33 2 low_record_burden_interpretation_limited low_record_burden_gene DPM3 human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 1.0000 condition_record_support_limited 20 0 1 Myopathy 13 low_record_burden_interpretation_limited low_record_burden_gene DPM3 human_phenotype_ontology_hp_0003322_human_phenotype_ontology_hp_0003458_human_phenotype_ontology_hp_0003711_human_phenotype_ontology_hp_0009021_medgen_c4021726 EMG: myopathic abnormalities Human_Phenotype_Ontology:HP:0003322,Human_Phenotype_Ontology:HP:0003458,Human_Phenotype_Ontology:HP:0003711,Human_Phenotype_Ontology:HP:0009021,MedGen:C4021726 1 1 1.0000 condition_record_support_limited 20 0 1 EMG:_myopathic_abnormalities 13 low_record_burden_interpretation_limited low_record_burden_gene DPM3 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy 13 low_record_burden_interpretation_limited low_record_burden_gene DPM1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DPM1 dpm1_related_disorder DPM1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DPM1-related_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DPH2 diphthamide_deficiency_syndrome diphthamide-deficiency syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 diphthamide-deficiency_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene DPH1 human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Hydrocephalus Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 1.0000 condition_record_support_limited 20 0 1 Hydrocephalus 14 low_record_burden_interpretation_limited low_record_burden_gene DPH1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 14 low_record_burden_interpretation_limited low_record_burden_gene DPH1 mondo_mondo_0009072_mesh_d003616_medgen_c0010964_omim_220200_orphanet_217 Dandy-Walker syndrome MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217 1 1 1.0000 condition_record_support_limited 20 0 1 Dandy-Walker_syndrome 14 low_record_burden_interpretation_limited low_record_burden_gene DPH1 dph1_related_disorder DPH1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DPH1-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene DPH1 human_phenotype_ontology_hp_0001320_medgen_c1840379 Cerebellar vermis hypoplasia Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_vermis_hypoplasia 14 low_record_burden_interpretation_limited low_record_burden_gene DPF2 mondo_mondo_0007617_medgen_c3281201_omim_135900_orphanet_1465 Coffin-Siris syndrome 1 MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900,Orphanet:1465 1 1 1.0000 condition_record_support_limited 20 0 1 Coffin-Siris_syndrome_1 17 low_record_burden_interpretation_limited low_record_burden_gene DPAGT1 mondo_mondo_0008051_medgen_c0410207_omim_ps160565_orphanet_2593 Myopathy with tubular aggregates MONDO:MONDO:0008051,MedGen:C0410207,OMIM:PS160565,Orphanet:2593 1 1 1.0000 condition_record_support_limited 20 0 0 Myopathy_with_tubular_aggregates 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DPAGT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DPAGT1 human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOT1L mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 9 low_record_burden_interpretation_limited low_record_burden_gene DOT1L dot1l_related_condition DOT1L-related condition . 1 1 1.0000 condition_record_support_limited 20 0 1 DOT1L-related_condition 9 low_record_burden_interpretation_limited low_record_burden_gene DOP1A condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene DOP1A mondo_mondo_0018037_medgen_c3887645_omim_ps147060_orphanet_331223 Hyper-IgE syndrome MONDO:MONDO:0018037,MedGen:C3887645,OMIM:PS147060,Orphanet:331223 1 1 1.0000 condition_record_support_limited 20 0 1 Hyper-IgE_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene DONSON mondo_mondo_0009143_medgen_c4552001_omim_224690_orphanet_2554 Meier-Gorlin syndrome 1 MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690,Orphanet:2554 1 1 1.0000 condition_record_support_limited 20 0 1 Meier-Gorlin_syndrome_1 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DONSON meier_gorlin_syndrome_10 MEIER-GORLIN SYNDROME 10 MedGen:CN381026,OMIM:621528 1 1 1.0000 condition_record_support_limited 20 0 1 MEIER-GORLIN_SYNDROME_10 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DONSON mondo_mondo_0035534_medgen_c5681722_orphanet_572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum MONDO:MONDO:0035534,MedGen:C5681722,Orphanet:572761 1 1 1.0000 condition_record_support_limited 20 0 0 DONSON-related_microcephaly-short_stature-limb_abnormalities_spectrum 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOK7 mondo_mondo_0010726_medgen_c0035372_omim_312750_orphanet_3095_orphanet_778 Rett syndrome MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:3095,Orphanet:778 1 1 1.0000 condition_record_support_limited 20 0 1 Rett_syndrome 144 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOK7 autosomal_recessive_dok7_related_disorders Autosomal recessive DOK7-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_DOK7-related_disorders 144 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOK7 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 144 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DOCK8 susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 120 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DOCK8 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 120 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DOCK7 mondo_mondo_0100103_medgen_c4760599_omim_618389 Fetal akinesia deformation sequence 3 MONDO:MONDO:0100103,MedGen:C4760599,OMIM:618389 1 1 1.0000 condition_record_support_limited 20 0 0 Fetal_akinesia_deformation_sequence_3 111 large_gene_or_donor_burden_stress_case donor_burden_stress DOCK7 angptl3_related_disorder ANGPTL3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ANGPTL3-related_disorder 111 large_gene_or_donor_burden_stress_case donor_burden_stress DOCK6 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DOCK6 mondo_mondo_0031446_medgen_c5542604_omim_607748_orphanet_238475 Hypercholanemia, familial 1 MONDO:MONDO:0031446,MedGen:C5542604,OMIM:607748,Orphanet:238475 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholanemia,_familial_1 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DOCK6 mondo_mondo_0024506_medgen_c4551482_omim_100300_orphanet_974 Adams-Oliver syndrome 1 MONDO:MONDO:0024506,MedGen:C4551482,OMIM:100300,Orphanet:974 1 1 1.0000 condition_record_support_limited 20 0 1 Adams-Oliver_syndrome_1 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DOCK1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 1 low_record_burden_interpretation_limited low_record_burden_gene DNMT3A human_phenotype_ontology_hp_0001328_human_phenotype_ontology_hp_0007234_mondo_mondo_0016225_medgen_c4025790_orphanet_211047 Specific learning disability Human_Phenotype_Ontology:HP:0001328,Human_Phenotype_Ontology:HP:0007234,MONDO:MONDO:0016225,MedGen:C4025790,Orphanet:211047 1 1 1.0000 condition_record_support_limited 20 0 1 Specific_learning_disability 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT3A medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_intellectual_disability 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT3A human_phenotype_ontology_hp_0000543_human_phenotype_ontology_hp_0001148_human_phenotype_ontology_hp_0001484_medgen_c0554970 Optic disc pallor Human_Phenotype_Ontology:HP:0000543,Human_Phenotype_Ontology:HP:0001148,Human_Phenotype_Ontology:HP:0001484,MedGen:C0554970 1 1 1.0000 condition_record_support_limited 20 0 1 Optic_disc_pallor 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT3A human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 1.0000 condition_record_support_limited 20 0 1 Obesity 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT3A human_phenotype_ontology_hp_0001319_human_phenotype_ontology_hp_0008976_medgen_c2267233 Neonatal hypotonia Human_Phenotype_Ontology:HP:0001319,Human_Phenotype_Ontology:HP:0008976,MedGen:C2267233 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_hypotonia 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT3A human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT3A human_phenotype_ontology_hp_0002861_human_phenotype_ontology_hp_0002887_human_phenotype_ontology_hp_0006777_human_phenotype_ontology_hp_0007474_mondo_mondo_0005105_mesh_d008545_medgen_c0025202 Melanoma Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202 1 1 1.0000 condition_record_support_limited 20 0 1 Melanoma 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT3A human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT3A human_phenotype_ontology_hp_0001520_human_phenotype_ontology_hp_0001825_medgen_c1848395 Large for gestational age Human_Phenotype_Ontology:HP:0001520,Human_Phenotype_Ontology:HP:0001825,MedGen:C1848395 1 1 1.0000 condition_record_support_limited 20 0 1 Large_for_gestational_age 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT3A human_phenotype_ontology_hp_0000829_human_phenotype_ontology_hp_0000856_human_phenotype_ontology_hp_0008292_mondo_mondo_0001220_medgen_c0020626 Hypoparathyroidism Human_Phenotype_Ontology:HP:0000829,Human_Phenotype_Ontology:HP:0000856,Human_Phenotype_Ontology:HP:0008292,MONDO:MONDO:0001220,MedGen:C0020626 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoparathyroidism 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT3A human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT3A mondo_mondo_0018177_mesh_d005909_medgen_c0017636_orphanet_360 Glioblastoma MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360 1 1 1.0000 condition_record_support_limited 20 0 0 Glioblastoma 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT3A mondo_mondo_0100291_medgen_c4329780 Early T cell progenitor acute lymphoblastic leukemia MONDO:MONDO:0100291,MedGen:C4329780 1 1 1.0000 condition_record_support_limited 20 0 0 Early_T_cell_progenitor_acute_lymphoblastic_leukemia 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT3A medgen_c5442191 Clonal Cytopenia of Undetermined Significance MedGen:C5442191 1 1 1.0000 condition_record_support_limited 20 0 1 Clonal_Cytopenia_of_Undetermined_Significance 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT3A human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 207 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNMT1 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia 13 low_record_burden_interpretation_limited low_record_burden_gene DNMT1 mondo_mondo_0019828_medgen_c4053775_orphanet_95496 Pituitary stalk interruption syndrome MONDO:MONDO:0019828,MedGen:C4053775,Orphanet:95496 1 1 1.0000 condition_record_support_limited 20 0 0 Pituitary_stalk_interruption_syndrome 13 low_record_burden_interpretation_limited low_record_burden_gene DNMT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 13 low_record_burden_interpretation_limited low_record_burden_gene DNMT1 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease 13 low_record_burden_interpretation_limited low_record_burden_gene DNMBP mondo_mondo_0009360_medgen_c3887608_omim_236600_orphanet_2185 Hydrocephalus, nonsyndromic, autosomal recessive 1 MONDO:MONDO:0009360,MedGen:C3887608,OMIM:236600,Orphanet:2185 1 1 1.0000 condition_record_support_limited 20 0 0 Hydrocephalus,_nonsyndromic,_autosomal_recessive_1 5 low_record_burden_interpretation_limited low_record_burden_gene DNM2 human_phenotype_ontology_hp_0007055_human_phenotype_ontology_hp_0007141_human_phenotype_ontology_hp_0007237_medgen_c1112256 Sensorimotor neuropathy Human_Phenotype_Ontology:HP:0007055,Human_Phenotype_Ontology:HP:0007141,Human_Phenotype_Ontology:HP:0007237,MedGen:C1112256 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorimotor_neuropathy 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM2 human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 1.0000 condition_record_support_limited 20 0 1 Myopathy 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM2 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM2 human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Limb-girdle muscular dystrophy Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 1.0000 condition_record_support_limited 20 0 1 Limb-girdle_muscular_dystrophy 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM2 mondo_mondo_0014149_medgen_c4706410_omim_615368_orphanet_363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome MONDO:MONDO:0014149,MedGen:C4706410,OMIM:615368,Orphanet:363409 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_akinesia-cerebral_and_retinal_hemorrhage_syndrome 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM2 dnm2_related_disorders DNM2-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 DNM2-related_disorders 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM2 mondo_mondo_0016431_medgen_c4304672_orphanet_228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M MONDO:MONDO:0016431,MedGen:C4304672,Orphanet:228179 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_Charcot-Marie-Tooth_disease_type_2M 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM2 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1L mondo_mondo_0054865_medgen_c5681458_omim_ps614388_orphanet_527276 Encephalopathy due to mitochondrial and peroxisomal fission defect MONDO:MONDO:0054865,MedGen:C5681458,OMIM:PS614388,Orphanet:527276 1 1 1.0000 condition_record_support_limited 20 0 0 Encephalopathy_due_to_mitochondrial_and_peroxisomal_fission_defect 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1L dnm1l_related_movement_disorder DNM1L-related movement disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DNM1L-related_movement_disorder 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1L dnm1l_related_mitochondrial_disorders DNM1L-related mitochondrial disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 DNM1L-related_mitochondrial_disorders 65 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1 mondo_mondo_0018097_medgen_c0037769_orphanet_3451_orphanet_697160 West syndrome MONDO:MONDO:0018097,MedGen:C0037769,Orphanet:3451,Orphanet:697160 1 1 1.0000 condition_record_support_limited 20 0 1 West_syndrome 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1 mondo_mondo_0002265_medgen_c0038273 Stereotypic movement disorder MONDO:MONDO:0002265,MedGen:C0038273 1 1 1.0000 condition_record_support_limited 20 0 1 Stereotypic_movement_disorder 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1 mondo_mondo_0016532_medgen_c0238111_orphanet_2382 Lennox-Gastaut syndrome MONDO:MONDO:0016532,MedGen:C0238111,Orphanet:2382 1 1 1.0000 condition_record_support_limited 20 0 1 Lennox-Gastaut_syndrome 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 1 Epileptic_encephalopathy 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1 mondo_mondo_0010632_medgen_c3463992_omim_308350 Developmental and epileptic encephalopathy, 1 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_1 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1 dnm1_related_disorders DNM1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 DNM1-related_disorders 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1 dnm1_related_disorder DNM1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 DNM1-related_disorder 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNM1 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNASE1L3 dnase1l3_related_disorder DNASE1L3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DNASE1L3-related_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene DNASE1 human_phenotype_ontology_hp_0002725_mondo_mondo_0007915_medgen_c0024141_omim_152700_orphanet_536 Systemic lupus erythematosus Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536 1 1 1.0000 condition_record_support_limited 20 0 0 Systemic_lupus_erythematosus 2 low_record_burden_interpretation_limited low_record_burden_gene DNASE1 gene_100034704_mondo_mondo_0012561_medgen_c1835826_omim_610805 Congenital anomalies of kidney and urinary tract 1 Gene:100034704,MONDO:MONDO:0012561,MedGen:C1835826,OMIM:610805 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_anomalies_of_kidney_and_urinary_tract_1 2 low_record_burden_interpretation_limited low_record_burden_gene DNALI1 mondo_mondo_0957250_medgen_c5830470_omim_620354 Spermatogenic failure 83 MONDO:MONDO:0957250,MedGen:C5830470,OMIM:620354 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_83 1 low_record_burden_interpretation_limited low_record_burden_gene DNAL4 mondo_mondo_0014478_medgen_c4015124_omim_616059_orphanet_238722 Mirror movements 3 MONDO:MONDO:0014478,MedGen:C4015124,OMIM:616059,Orphanet:238722 1 1 1.0000 condition_record_support_limited 20 0 0 Mirror_movements_3 1 low_record_burden_interpretation_limited low_record_burden_gene DNAL1 mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 Kartagener syndrome MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 1 Kartagener_syndrome 10 low_record_burden_interpretation_limited low_record_burden_gene DNAJC6 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene DNAJC6 human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Prostate cancer Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 1 1 1.0000 condition_record_support_limited 20 0 1 Prostate_cancer 13 low_record_burden_interpretation_limited low_record_burden_gene DNAJC6 mondo_mondo_0800369_medgen_c4310802 Parkinson disease 19B, early-onset MONDO:MONDO:0800369,MedGen:C4310802 1 1 1.0000 condition_record_support_limited 20 0 1 Parkinson_disease_19B,_early-onset 13 low_record_burden_interpretation_limited low_record_burden_gene DNAJC6 mondo_mondo_0014523_medgen_c4015436_omim_616192_orphanet_445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:MONDO:0014523,MedGen:C4015436,OMIM:616192,Orphanet:445062 1 1 1.0000 condition_record_support_limited 20 0 1 Juvenile-onset_diabetes_mellitus-central_and_peripheral_neurodegeneration_syndrome 13 low_record_burden_interpretation_limited low_record_burden_gene DNAJC5 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene DNAJC5 mondo_mondo_0016295_medgen_c0027877_omim_ps256730_orphanet_216_orphanet_79263 Neuronal ceroid lipofuscinosis MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263 1 1 1.0000 condition_record_support_limited 20 0 1 Neuronal_ceroid_lipofuscinosis 4 low_record_burden_interpretation_limited low_record_burden_gene DNAJC30 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene DNAJC30 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 9 low_record_burden_interpretation_limited low_record_burden_gene DNAJC30 mondo_mondo_0010640_medgen_c1839891_omim_308905_orphanet_104 Leber optic atrophy, susceptibility to MONDO:MONDO:0010640,MedGen:C1839891,OMIM:308905,Orphanet:104 1 1 1.0000 condition_record_support_limited 20 0 1 Leber_optic_atrophy,_susceptibility_to 9 low_record_burden_interpretation_limited low_record_burden_gene DNAJC30 dnajc30_related_disorder DNAJC30-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 DNAJC30-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene DNAJC30 dnajc30_associated_disorder DNAJC30-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DNAJC30-associated_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene DNAJC3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 10 low_record_burden_interpretation_limited low_record_burden_gene DNAJC21 mondo_mondo_0044204_medgen_c4692625_omim_260400 Shwachman-Diamond syndrome 1 MONDO:MONDO:0044204,MedGen:C4692625,OMIM:260400 1 1 1.0000 condition_record_support_limited 20 0 1 Shwachman-Diamond_syndrome_1 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJC21 mondo_mondo_0009833_medgen_c0272170_omim_ps260400_orphanet_811 Shwachman syndrome MONDO:MONDO:0009833,MedGen:C0272170,OMIM:PS260400,Orphanet:811 1 1 1.0000 condition_record_support_limited 20 0 1 Shwachman_syndrome 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJC21 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJC19 dnajc19_related_disorder DNAJC19-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DNAJC19-related_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJC19 mondo_mondo_0009787_medgen_c0574084_omim_258501_orphanet_67047 3-Methylglutaconic aciduria type 3 MONDO:MONDO:0009787,MedGen:C0574084,OMIM:258501,Orphanet:67047 1 1 1.0000 condition_record_support_limited 20 0 1 3-Methylglutaconic_aciduria_type_3 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJC12 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJC12 dnajc12_related_disorder DNAJC12-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DNAJC12-related_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJB6 mondo_mondo_0019568_medgen_c0268336_omim_130010_orphanet_287_orphanet_90318 Ehlers-Danlos syndrome, classic type, 2 MONDO:MONDO:0019568,MedGen:C0268336,OMIM:130010,Orphanet:287,Orphanet:90318 1 1 1.0000 condition_record_support_limited 20 0 1 Ehlers-Danlos_syndrome,_classic_type,_2 14 low_record_burden_interpretation_limited low_record_burden_gene DNAJB6 mondo_mondo_0019567_medgen_c0268335_omim_130000 Ehlers-Danlos syndrome, classic type, 1 MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000 1 1 1.0000 condition_record_support_limited 20 0 1 Ehlers-Danlos_syndrome,_classic_type,_1 14 low_record_burden_interpretation_limited low_record_burden_gene DNAJB6 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 14 low_record_burden_interpretation_limited low_record_burden_gene DNAJB2 mondo_mondo_0014866_medgen_c4015635_omim_617017_orphanet_443950 Charcot-Marie-Tooth disease axonal type 2T MONDO:MONDO:0014866,MedGen:C4015635,OMIM:617017,Orphanet:443950 1 1 1.0000 condition_record_support_limited 20 0 0 Charcot-Marie-Tooth_disease_axonal_type_2T 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJB2 mondo_mondo_0010549_medgen_c0393808_omim_302800_orphanet_101075 Charcot-Marie-Tooth disease X-linked dominant 1 MONDO:MONDO:0010549,MedGen:C0393808,OMIM:302800,Orphanet:101075 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease_X-linked_dominant_1 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJB11 human_phenotype_ontology_hp_0000088_human_phenotype_ontology_hp_0000107_human_phenotype_ontology_hp_0000109_mondo_mondo_0002473_medgen_c3887499 Renal cyst Human_Phenotype_Ontology:HP:0000088,Human_Phenotype_Ontology:HP:0000107,Human_Phenotype_Ontology:HP:0000109,MONDO:MONDO:0002473,MedGen:C3887499 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_cyst 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJB11 human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Polycystic kidney disease Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 1 1 1.0000 condition_record_support_limited 20 0 1 Polycystic_kidney_disease 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJB11 human_phenotype_ontology_hp_0005562_medgen_c0431718 Multiple renal cysts Human_Phenotype_Ontology:HP:0005562,MedGen:C0431718 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_renal_cysts 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJB11 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJB11 human_phenotype_ontology_hp_0000105_medgen_c0542518 Enlarged kidney Human_Phenotype_Ontology:HP:0000105,MedGen:C0542518 1 1 1.0000 condition_record_support_limited 20 0 1 Enlarged_kidney 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAJB11 human_phenotype_ontology_hp_0025700_medgen_c0730379 Anhydramnios Human_Phenotype_Ontology:HP:0025700,MedGen:C0730379 1 1 1.0000 condition_record_support_limited 20 0 1 Anhydramnios 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAI2 respiratory_ciliopathies_including_non_cf_bronchiectasis Respiratory ciliopathies including non-CF bronchiectasis . 1 1 1.0000 condition_record_support_limited 20 0 1 Respiratory_ciliopathies_including_non-CF_bronchiectasis 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAI1 respiratory_ciliopathies_including_non_cf_bronchiectasis Respiratory ciliopathies including non-CF bronchiectasis . 1 1 1.0000 condition_record_support_limited 20 0 1 Respiratory_ciliopathies_including_non-CF_bronchiectasis 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAI1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAH9 human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 1.0000 condition_record_support_limited 20 0 1 Non-immune_hydrops_fetalis 157 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH9 human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Hydrocephalus Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 1.0000 condition_record_support_limited 20 0 1 Hydrocephalus 157 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH9 human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Abnormal cardiovascular system morphology Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cardiovascular_system_morphology 157 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH8 mondo_mondo_0019182_medgen_c4054476_omim_601665_orphanet_77828 Inherited obesity MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_obesity 156 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH7 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 7 low_record_burden_interpretation_limited low_record_burden_gene DNAH7 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_ciliary_dyskinesia 7 low_record_burden_interpretation_limited low_record_burden_gene DNAH7 human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Hypoplasia of the corpus callosum Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplasia_of_the_corpus_callosum 7 low_record_burden_interpretation_limited low_record_burden_gene DNAH7 human_phenotype_ontology_hp_0002094_medgen_c0013404 Dyspnea Human_Phenotype_Ontology:HP:0002094,MedGen:C0013404 1 1 1.0000 condition_record_support_limited 20 0 1 Dyspnea 7 low_record_burden_interpretation_limited low_record_burden_gene DNAH7 human_phenotype_ontology_hp_0003808_medgen_c0852413 Abnormal muscle tone Human_Phenotype_Ontology:HP:0003808,MedGen:C0852413 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_muscle_tone 7 low_record_burden_interpretation_limited low_record_burden_gene DNAH7 human_phenotype_ontology_hp_0002134_human_phenotype_ontology_hp_0006952_human_phenotype_ontology_hp_0007257_mondo_mondo_0003996_medgen_c4520981 Abnormal basal ganglia morphology Human_Phenotype_Ontology:HP:0002134,Human_Phenotype_Ontology:HP:0006952,Human_Phenotype_Ontology:HP:0007257,MONDO:MONDO:0003996,MedGen:C4520981 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_basal_ganglia_morphology 7 low_record_burden_interpretation_limited low_record_burden_gene DNAH7 human_phenotype_ontology_hp_0003363_medgen_c0037221 Abdominal situs inversus Human_Phenotype_Ontology:HP:0003363,MedGen:C0037221 1 1 1.0000 condition_record_support_limited 20 0 1 Abdominal_situs_inversus 7 low_record_burden_interpretation_limited low_record_burden_gene DNAH6 mondo_mondo_0032924_medgen_c5394104_omim_618801 Ciliary dyskinesia, primary, 45 MONDO:MONDO:0032924,MedGen:C5394104,OMIM:618801 1 1 1.0000 condition_record_support_limited 20 0 0 Ciliary_dyskinesia,_primary,_45 1 low_record_burden_interpretation_limited low_record_burden_gene DNAH5 primary_ciliary_dyskinesia_dnah5_related Primary Ciliary Dyskinesia (DNAH5-related) . 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_Ciliary_Dyskinesia_(DNAH5-related) 1093 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH5 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 1.0000 condition_record_support_limited 20 0 1 Male_infertility 1093 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH5 human_phenotype_ontology_hp_0000789_mondo_mondo_0005047_medgen_c0021359 Infertility disorder Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359 1 1 1.0000 condition_record_support_limited 20 0 1 Infertility_disorder 1093 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH5 mondo_mondo_0958179_medgen_cn376801_omim_605899 Glycine encephalopathy 1 MONDO:MONDO:0958179,MedGen:CN376801,OMIM:605899 1 1 1.0000 condition_record_support_limited 20 0 1 Glycine_encephalopathy_1 1093 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH17 medgen_c5681167_orphanet_399775 Male infertility with spermatogenesis disorder MedGen:C5681167,Orphanet:399775 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_spermatogenesis_disorder 23 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH11 human_phenotype_ontology_hp_0001696_mondo_mondo_0010029_medgen_c4551493_orphanet_101063 Situs inversus Human_Phenotype_Ontology:HP:0001696,MONDO:MONDO:0010029,MedGen:C4551493,Orphanet:101063 1 1 1.0000 condition_record_support_limited 20 0 1 Situs_inversus 574 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH11 mondo_mondo_0033204_medgen_c4539798_omim_617577 Ciliary dyskinesia, primary, 37 MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577 1 1 1.0000 condition_record_support_limited 20 0 0 Ciliary_dyskinesia,_primary,_37 574 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH11 ciliary_dyskinesia_primary_7_with_situs_inversus CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS . 1 1 1.0000 condition_record_support_limited 20 0 1 CILIARY_DYSKINESIA,_PRIMARY,_7,_WITH_SITUS_INVERSUS 574 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH10 human_phenotype_ontology_hp_0012207_medgen_c4082176 Reduced sperm motility Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_sperm_motility 6 low_record_burden_interpretation_limited low_record_burden_gene DNAH10 mondo_mondo_0001913_mesh_d009845_medgen_c0028960 Oligospermia MONDO:MONDO:0001913,MeSH:D009845,MedGen:C0028960 1 1 1.0000 condition_record_support_limited 20 0 1 Oligospermia 6 low_record_burden_interpretation_limited low_record_burden_gene DNAH10 human_phenotype_ontology_hp_0012864_medgen_c0403824 Abnormal sperm morphology Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_sperm_morphology 6 low_record_burden_interpretation_limited low_record_burden_gene DNAH1 human_phenotype_ontology_hp_0012207_medgen_c4082176 Reduced sperm motility Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_sperm_motility 139 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH1 mondo_mondo_0001913_mesh_d009845_medgen_c0028960 Oligospermia MONDO:MONDO:0001913,MeSH:D009845,MedGen:C0028960 1 1 1.0000 condition_record_support_limited 20 0 1 Oligospermia 139 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH1 medgen_c0403811_orphanet_276234 Non-syndromic male infertility due to sperm motility disorder MedGen:C0403811,Orphanet:276234 1 1 1.0000 condition_record_support_limited 20 0 0 Non-syndromic_male_infertility_due_to_sperm_motility_disorder 139 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH1 mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 Kartagener syndrome MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 1 Kartagener_syndrome 139 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH1 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer-predisposing_syndrome 139 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH1 mondo_mondo_0018961_medgen_c1512419_orphanet_618 Familial melanoma MONDO:MONDO:0018961,MedGen:C1512419,Orphanet:618 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_melanoma 139 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH1 mondo_mondo_0013692_medgen_c3280492_omim_614327_orphanet_289539 BAP1-related tumor predisposition syndrome MONDO:MONDO:0013692,MedGen:C3280492,OMIM:614327,Orphanet:289539 1 1 1.0000 condition_record_support_limited 20 0 1 BAP1-related_tumor_predisposition_syndrome 139 large_gene_or_donor_burden_stress_case donor_burden_stress DNAH1 human_phenotype_ontology_hp_0012864_medgen_c0403824 Abnormal sperm morphology Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_sperm_morphology 139 large_gene_or_donor_burden_stress_case donor_burden_stress DNAAF6 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_ciliary_dyskinesia 12 low_record_burden_interpretation_limited low_record_burden_gene DNAAF5 dnaaf5_related_disorder DNAAF5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DNAAF5-related_disorder 50 compact_adjacent_exon_block_opportunity local_compact_architecture DNAAF4 respiratory_ciliopathies_including_non_cf_bronchiectasis Respiratory ciliopathies including non-CF bronchiectasis . 1 1 1.0000 condition_record_support_limited 20 0 1 Respiratory_ciliopathies_including_non-CF_bronchiectasis 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF3 mondo_mondo_0007268_medgen_c1861862_omim_115197 Hypertrophic cardiomyopathy 4 MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197 1 1 1.0000 condition_record_support_limited 20 0 0 Hypertrophic_cardiomyopathy_4 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 50 compact_adjacent_exon_block_opportunity local_compact_architecture DNAAF19 human_phenotype_ontology_hp_0001696_mondo_mondo_0010029_medgen_c4551493_orphanet_101063 Situs inversus Human_Phenotype_Ontology:HP:0001696,MONDO:MONDO:0010029,MedGen:C4551493,Orphanet:101063 1 1 1.0000 condition_record_support_limited 20 0 1 Situs_inversus 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF19 respiratory_ciliopathies_including_non_cf_bronchiectasis Respiratory ciliopathies including non-CF bronchiectasis . 1 1 1.0000 condition_record_support_limited 20 0 1 Respiratory_ciliopathies_including_non-CF_bronchiectasis 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF19 human_phenotype_ontology_hp_0000789_mondo_mondo_0005047_medgen_c0021359 Infertility disorder Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359 1 1 1.0000 condition_record_support_limited 20 0 1 Infertility_disorder 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF19 mondo_mondo_0013048_medgen_c2752008_omim_612936_orphanet_280763 Hereditary spastic paraplegia 50 MONDO:MONDO:0013048,MedGen:C2752008,OMIM:612936,Orphanet:280763 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia_50 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF19 mondo_mondo_0030335_medgen_c5561942_omim_619445 Diarrhea 12, with microvillus atrophy MONDO:MONDO:0030335,MedGen:C5561942,OMIM:619445 1 1 1.0000 condition_record_support_limited 20 0 1 Diarrhea_12,_with_microvillus_atrophy 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF19 ccdc103_related_disorder CCDC103-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CCDC103-related_disorder 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF19 human_phenotype_ontology_hp_0012259_medgen_c4022986 Absent inner and outer dynein arms Human_Phenotype_Ontology:HP:0012259,MedGen:C4022986 1 1 1.0000 condition_record_support_limited 20 0 1 Absent_inner_and_outer_dynein_arms 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF11 mondo_mondo_0009484_medgen_c4551906_omim_244400_orphanet_244 Kartagener syndrome MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 1 Kartagener_syndrome 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF11 human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Heterotaxy Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 1 1 1.0000 condition_record_support_limited 20 0 1 Heterotaxy 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNAAF1 respiratory_ciliopathies_including_non_cf_bronchiectasis Respiratory ciliopathies including non-CF bronchiectasis . 1 1 1.0000 condition_record_support_limited 20 0 1 Respiratory_ciliopathies_including_non-CF_bronchiectasis 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DNA2 autosomal_recessive_dna2_related_disorders Autosomal recessive DNA2-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_DNA2-related_disorders 17 low_record_burden_interpretation_limited low_record_burden_gene DNA2 mondo_mondo_0009876_medgen_c0342573_omim_262400_orphanet_231662_orphanet_631 Ateleiotic dwarfism MONDO:MONDO:0009876,MedGen:C0342573,OMIM:262400,Orphanet:231662,Orphanet:631 1 1 1.0000 condition_record_support_limited 20 0 1 Ateleiotic_dwarfism 17 low_record_burden_interpretation_limited low_record_burden_gene DMXL2 mondo_mondo_0033258_medgen_c4539881_omim_617605 Hearing loss, autosomal dominant 71 MONDO:MONDO:0033258,MedGen:C4539881,OMIM:617605 1 1 1.0000 condition_record_support_limited 20 0 0 Hearing_loss,_autosomal_dominant_71 61 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DMXL2 dmxl2_related_disorder DMXL2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DMXL2-related_disorder 61 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DMRT3 mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 1 low_record_burden_interpretation_limited low_record_burden_gene DMRT2 spondylocostal_dysostosis_7_autosomal_recessive SPONDYLOCOSTAL DYSOSTOSIS 7, AUTOSOMAL RECESSIVE MedGen:CN380900,OMIM:621523 1 1 1.0000 condition_record_support_limited 20 0 1 SPONDYLOCOSTAL_DYSOSTOSIS_7,_AUTOSOMAL_RECESSIVE 2 low_record_burden_interpretation_limited low_record_burden_gene DMRT1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene DMRT1 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 1.0000 condition_record_support_limited 20 0 0 Non-obstructive_azoospermia 9 low_record_burden_interpretation_limited low_record_burden_gene DMRT1 mondo_mondo_0007938_medgen_c2752149_omim_154230 46,XY sex reversal 4 MONDO:MONDO:0007938,MedGen:C2752149,OMIM:154230 1 1 1.0000 condition_record_support_limited 20 0 0 46,XY_sex_reversal_4 9 low_record_burden_interpretation_limited low_record_burden_gene DMPK mondo_mondo_0024530_medgen_cn029274_omim_158810_orphanet_610 Bethlem myopathy 1A MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610 1 1 1.0000 condition_record_support_limited 20 0 0 Bethlem_myopathy_1A 174 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DMGDH condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene DMD x_linked_dmd_related_dystrophinopathy X-linked DMD-related dystrophinopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 X-linked_DMD-related_dystrophinopathy 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD human_phenotype_ontology_hp_0003432_human_phenotype_ontology_hp_0003475_human_phenotype_ontology_hp_0003701_human_phenotype_ontology_hp_0007195_human_phenotype_ontology_hp_0008950_human_phenotype_ontology_hp_0008961_human_phenotype_ontology_hp_0008975_human_phenotype_ontology_hp_0009033_human_phenotype_ontology_hp_0009075_medgen_c0221629 Proximal muscle weakness Human_Phenotype_Ontology:HP:0003432,Human_Phenotype_Ontology:HP:0003475,Human_Phenotype_Ontology:HP:0003701,Human_Phenotype_Ontology:HP:0007195,Human_Phenotype_Ontology:HP:0008950,Human_Phenotype_Ontology:HP:0008961,Human_Phenotype_Ontology:HP:0008975,Human_Phenotype_Ontology:HP:0009033,Human_Phenotype_Ontology:HP:0009075,MedGen:C0221629 1 1 1.0000 condition_record_support_limited 20 0 1 Proximal_muscle_weakness 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD human_phenotype_ontology_hp_0002455_human_phenotype_ontology_hp_0008941_human_phenotype_ontology_hp_0008994_medgen_c1866010 Proximal lower limb muscle weakness Human_Phenotype_Ontology:HP:0002455,Human_Phenotype_Ontology:HP:0008941,Human_Phenotype_Ontology:HP:0008994,MedGen:C1866010 1 1 1.0000 condition_record_support_limited 20 0 1 Proximal_lower_limb_muscle_weakness 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD human_phenotype_ontology_hp_0008965_human_phenotype_ontology_hp_0009073_medgen_c1836156 Progressive proximal muscle weakness Human_Phenotype_Ontology:HP:0008965,Human_Phenotype_Ontology:HP:0009073,MedGen:C1836156 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_proximal_muscle_weakness 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD human_phenotype_ontology_hp_0003323_human_phenotype_ontology_hp_0009032_medgen_c0240421 Progressive muscle weakness Human_Phenotype_Ontology:HP:0003323,Human_Phenotype_Ontology:HP:0009032,MedGen:C0240421 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_muscle_weakness 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Muscle weakness Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 1 1 1.0000 condition_record_support_limited 20 0 1 Muscle_weakness 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD human_phenotype_ontology_hp_0003394_human_phenotype_ontology_hp_0009018_medgen_c0037763 Muscle spasm Human_Phenotype_Ontology:HP:0003394,Human_Phenotype_Ontology:HP:0009018,MedGen:C0037763 1 1 1.0000 condition_record_support_limited 20 0 1 Muscle_spasm 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD human_phenotype_ontology_hp_0009045_medgen_c4021526 Exercise-induced rhabdomyolysis Human_Phenotype_Ontology:HP:0009045,MedGen:C4021526 1 1 1.0000 condition_record_support_limited 20 0 1 Exercise-induced_rhabdomyolysis 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD human_phenotype_ontology_hp_0003738_medgen_c1850830 Exercise-induced myalgia Human_Phenotype_Ontology:HP:0003738,MedGen:C1850830 1 1 1.0000 condition_record_support_limited 20 0 1 Exercise-induced_myalgia 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD human_phenotype_ontology_hp_0003633_human_phenotype_ontology_hp_0008967_medgen_c1855579 Exercise-induced muscle stiffness Human_Phenotype_Ontology:HP:0003633,Human_Phenotype_Ontology:HP:0008967,MedGen:C1855579 1 1 1.0000 condition_record_support_limited 20 0 1 Exercise-induced_muscle_stiffness 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD human_phenotype_ontology_hp_0009020_medgen_c1855580 Exercise-induced muscle fatigue Human_Phenotype_Ontology:HP:0009020,MedGen:C1855580 1 1 1.0000 condition_record_support_limited 20 0 1 Exercise-induced_muscle_fatigue 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD human_phenotype_ontology_hp_0003710_human_phenotype_ontology_hp_0008983_human_phenotype_ontology_hp_0009000_medgen_c1855578 Exercise-induced muscle cramps Human_Phenotype_Ontology:HP:0003710,Human_Phenotype_Ontology:HP:0008983,Human_Phenotype_Ontology:HP:0009000,MedGen:C1855578 1 1 1.0000 condition_record_support_limited 20 0 1 Exercise-induced_muscle_cramps 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD human_phenotype_ontology_hp_0002177_human_phenotype_ontology_hp_0003457_human_phenotype_ontology_hp_0003751_human_phenotype_ontology_hp_0003753_human_phenotype_ontology_hp_0100286_medgen_c0476403 EMG abnormality Human_Phenotype_Ontology:HP:0002177,Human_Phenotype_Ontology:HP:0003457,Human_Phenotype_Ontology:HP:0003751,Human_Phenotype_Ontology:HP:0003753,Human_Phenotype_Ontology:HP:0100286,MedGen:C0476403 1 1 1.0000 condition_record_support_limited 20 0 1 EMG_abnormality 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD human_phenotype_ontology_hp_0001823_human_phenotype_ontology_hp_0001826_human_phenotype_ontology_hp_0004325_medgen_c5574742 Decreased body weight Human_Phenotype_Ontology:HP:0001823,Human_Phenotype_Ontology:HP:0001826,Human_Phenotype_Ontology:HP:0004325,MedGen:C5574742 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_body_weight 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD mondo_mondo_0700285_medgen_cn379372 DMD-related muscular dystrophy MONDO:MONDO:0700285,MedGen:CN379372 1 1 1.0000 condition_record_support_limited 20 0 1 DMD-related_muscular_dystrophy 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD human_phenotype_ontology_hp_0000551_medgen_c0234629 Color vision defect Human_Phenotype_Ontology:HP:0000551,MedGen:C0234629 1 1 1.0000 condition_record_support_limited 20 0 1 Color_vision_defect 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD human_phenotype_ontology_hp_0001630_human_phenotype_ontology_hp_0001631_mondo_mondo_0006664_medgen_c0018817_omim_ps108800_orphanet_1478 Atrial septal defect Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478 1 1 1.0000 condition_record_support_limited 20 0 1 Atrial_septal_defect 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD human_phenotype_ontology_hp_0008942_medgen_c3807306 Acute rhabdomyolysis Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_rhabdomyolysis 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMD human_phenotype_ontology_hp_0030096_medgen_c4022648 Abnormal muscle fiber dystrophin expression Human_Phenotype_Ontology:HP:0030096,MedGen:C4022648 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_muscle_fiber_dystrophin_expression 2119 large_gene_or_donor_burden_stress_case donor_burden_stress DMBX1 human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 1.0000 condition_record_support_limited 20 0 1 Strabismus 1 low_record_burden_interpretation_limited low_record_burden_gene DMBX1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 1 low_record_burden_interpretation_limited low_record_burden_gene DMBX1 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 1 low_record_burden_interpretation_limited low_record_burden_gene DMBX1 human_phenotype_ontology_hp_0000540_mondo_mondo_0004891_medgen_c0020490 Hypermetropia Human_Phenotype_Ontology:HP:0000540,MONDO:MONDO:0004891,MedGen:C0020490 1 1 1.0000 condition_record_support_limited 20 0 1 Hypermetropia 1 low_record_burden_interpretation_limited low_record_burden_gene DMBX1 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 1 low_record_burden_interpretation_limited low_record_burden_gene DMBX1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene DMAP1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 1 low_record_burden_interpretation_limited low_record_burden_gene DMAP1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene DMAP1 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 1 low_record_burden_interpretation_limited low_record_burden_gene DMAC2L mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 2 low_record_burden_interpretation_limited low_record_burden_gene DLX3 human_phenotype_ontology_hp_0004957_human_phenotype_ontology_hp_0004969_medgen_c0345030 Peripheral pulmonary artery stenosis Human_Phenotype_Ontology:HP:0004957,Human_Phenotype_Ontology:HP:0004969,MedGen:C0345030 1 1 1.0000 condition_record_support_limited 20 0 1 Peripheral_pulmonary_artery_stenosis 8 low_record_burden_interpretation_limited low_record_burden_gene DLX3 dlx3_related_disorder DLX3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DLX3-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene DLX3 human_phenotype_ontology_hp_0000705_human_phenotype_ontology_hp_0006284_human_phenotype_ontology_hp_0006310_human_phenotype_ontology_hp_0006325_human_phenotype_ontology_hp_0006327_human_phenotype_ontology_hp_0006331_mondo_mondo_0019507_medgen_c0002452_omim_ps104500_orphanet_88661 Amelogenesis imperfecta Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661 1 1 1.0000 condition_record_support_limited 20 0 1 Amelogenesis_imperfecta 8 low_record_burden_interpretation_limited low_record_burden_gene DLL4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLL3 human_phenotype_ontology_hp_0000880_human_phenotype_ontology_hp_0000902_medgen_c0265695 Rib fusion Human_Phenotype_Ontology:HP:0000880,Human_Phenotype_Ontology:HP:0000902,MedGen:C0265695 1 1 1.0000 condition_record_support_limited 20 0 1 Rib_fusion 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLL3 mondo_mondo_0014766_medgen_c4225213_omim_616763 Leukodystrophy and acquired microcephaly with or without dystonia MONDO:MONDO:0014766,MedGen:C4225213,OMIM:616763 1 1 1.0000 condition_record_support_limited 20 0 1 Leukodystrophy_and_acquired_microcephaly_with_or_without_dystonia%3B 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLL3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLL3 human_phenotype_ontology_hp_0002937_medgen_c0265677 Hemivertebrae Human_Phenotype_Ontology:HP:0002937,MedGen:C0265677 1 1 1.0000 condition_record_support_limited 20 0 1 Hemivertebrae 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLL3 dll3_related_disorder DLL3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DLL3-related_disorder 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLL1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLK1 mondo_mondo_0019165_medgen_c0342543_omim_ps176400_orphanet_650063 Central precocious puberty MONDO:MONDO:0019165,MedGen:C0342543,OMIM:PS176400,Orphanet:650063 1 1 1.0000 condition_record_support_limited 20 0 0 Central_precocious_puberty 1 low_record_burden_interpretation_limited low_record_burden_gene DLG5 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene DLG4 human_phenotype_ontology_hp_0003201_medgen_c0035410 Rhabdomyolysis Human_Phenotype_Ontology:HP:0003201,MedGen:C0035410 1 1 1.0000 condition_record_support_limited 20 0 1 Rhabdomyolysis 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLG4 mondo_mondo_0010802_medgen_c2931296_omim_600001_orphanet_2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:MONDO:0010802,MedGen:C2931296,OMIM:600001,Orphanet:2255 1 1 1.0000 condition_record_support_limited 20 0 1 Pancreatic_hypoplasia-diabetes-congenital_heart_disease_syndrome 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLG4 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLG4 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLG4 dlg4_related_disorder DLG4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DLG4-related_disorder 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLG4 cerebral_visual_impairment_and_intellectual_disability Cerebral visual impairment and intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_visual_impairment_and_intellectual_disability 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLG4 human_phenotype_ontology_hp_0011021_medgen_c4023591 Abnormal circulating enzyme concentration Human_Phenotype_Ontology:HP:0011021,MedGen:C4023591 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_circulating_enzyme_concentration 116 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLG3 dlg3_related_disorder DLG3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DLG3-related_disorder 40 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture DLD human_phenotype_ontology_hp_0003128_human_phenotype_ontology_hp_0003255_human_phenotype_ontology_hp_0005960_mondo_mondo_0006040_medgen_c0001125 Lactic acidosis Human_Phenotype_Ontology:HP:0003128,Human_Phenotype_Ontology:HP:0003255,Human_Phenotype_Ontology:HP:0005960,MONDO:MONDO:0006040,MedGen:C0001125 1 1 1.0000 condition_record_support_limited 20 0 1 Lactic_acidosis 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DLC1 mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 1 1 1.0000 condition_record_support_limited 20 0 0 Carcinoma_of_colon 1 low_record_burden_interpretation_limited low_record_burden_gene DLAT mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 17 low_record_burden_interpretation_limited low_record_burden_gene DKC1 mondo_mondo_0018045_medgen_c1846142_orphanet_3322 Hoyeraal-Hreidarsson syndrome MONDO:MONDO:0018045,MedGen:C1846142,Orphanet:3322 1 1 1.0000 condition_record_support_limited 20 0 1 Hoyeraal-Hreidarsson_syndrome 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DKC1 mondo_mondo_0100152_medgen_cn294808 DKC1-related disorder MONDO:MONDO:0100152,MedGen:CN294808 1 1 1.0000 condition_record_support_limited 20 0 1 DKC1-related_disorder 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DKC1 mondo_mondo_0958178_medgen_c5829571_omim_301108 Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 MONDO:MONDO:0958178,MedGen:C5829571,OMIM:301108 1 1 1.0000 condition_record_support_limited 20 0 0 Cataracts,_hearing_impairment,_nephrotic_syndrome,_and_enterocolitis_1 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIXDC1 human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 1.0000 condition_record_support_limited 20 0 0 Obesity 1 low_record_burden_interpretation_limited low_record_burden_gene DISP1 mondo_mondo_0976262_medgen_cn379202_omim_621143 Holoprosencephaly 10 MONDO:MONDO:0976262,MedGen:CN379202,OMIM:621143 1 1 1.0000 condition_record_support_limited 20 0 0 Holoprosencephaly_10 5 low_record_burden_interpretation_limited low_record_burden_gene DIS3L2 human_phenotype_ontology_hp_0000115_human_phenotype_ontology_hp_0002667_mondo_mondo_0006058_mesh_d009396_medgen_c0027708_orphanet_654 Nephroblastoma Human_Phenotype_Ontology:HP:0000115,Human_Phenotype_Ontology:HP:0002667,MONDO:MONDO:0006058,MeSH:D009396,MedGen:C0027708,Orphanet:654 1 1 1.0000 condition_record_support_limited 20 0 0 Nephroblastoma 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIS3 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 2 low_record_burden_interpretation_limited low_record_burden_gene DIS3 multiple_myeloma_predisposition Multiple Myeloma Predisposition . 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_Myeloma_Predisposition 2 low_record_burden_interpretation_limited low_record_burden_gene DIPK1A human_phenotype_ontology_hp_0000260_medgen_c1866134 Wide anterior fontanel Human_Phenotype_Ontology:HP:0000260,MedGen:C1866134 1 1 1.0000 condition_record_support_limited 20 0 1 Wide_anterior_fontanel 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIPK1A human_phenotype_ontology_hp_0100673_medgen_cn117565 Vaginal hydrocele Human_Phenotype_Ontology:HP:0100673,MedGen:CN117565 1 1 1.0000 condition_record_support_limited 20 0 1 Vaginal_hydrocele 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIPK1A human_phenotype_ontology_hp_0000257_human_phenotype_ontology_hp_0001364_human_phenotype_ontology_hp_0004482_medgen_c1849075 Relative macrocephaly Human_Phenotype_Ontology:HP:0000257,Human_Phenotype_Ontology:HP:0001364,Human_Phenotype_Ontology:HP:0004482,MedGen:C1849075 1 1 1.0000 condition_record_support_limited 20 0 1 Relative_macrocephaly 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIPK1A rpl5_related_disorder RPL5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 RPL5-related_disorder 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIPK1A human_phenotype_ontology_hp_0002092_human_phenotype_ontology_hp_0006546_mondo_mondo_0015924_mesh_d000081029_medgen_c2973725_orphanet_182090 Pulmonary arterial hypertension Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orphanet:182090 1 1 1.0000 condition_record_support_limited 20 0 1 Pulmonary_arterial_hypertension 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIPK1A human_phenotype_ontology_hp_0000368_medgen_c1857486 Low-set, posteriorly rotated ears Human_Phenotype_Ontology:HP:0000368,MedGen:C1857486 1 1 1.0000 condition_record_support_limited 20 0 1 Low-set,_posteriorly_rotated_ears 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIPK1A human_phenotype_ontology_hp_0006796_human_phenotype_ontology_hp_0006945_human_phenotype_ontology_hp_0006956_human_phenotype_ontology_hp_0007173_medgen_c1856409 Lateral ventricle dilatation Human_Phenotype_Ontology:HP:0006796,Human_Phenotype_Ontology:HP:0006945,Human_Phenotype_Ontology:HP:0006956,Human_Phenotype_Ontology:HP:0007173,MedGen:C1856409 1 1 1.0000 condition_record_support_limited 20 0 1 Lateral_ventricle_dilatation 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIPK1A human_phenotype_ontology_hp_0007229_medgen_c1837246 Intracerebral periventricular calcifications Human_Phenotype_Ontology:HP:0007229,MedGen:C1837246 1 1 1.0000 condition_record_support_limited 20 0 1 Intracerebral_periventricular_calcifications 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIPK1A human_phenotype_ontology_hp_0000601_human_phenotype_ontology_hp_0007877_medgen_c0424711 Hypotelorism Human_Phenotype_Ontology:HP:0000601,Human_Phenotype_Ontology:HP:0007877,MedGen:C0424711 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotelorism 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIPK1A human_phenotype_ontology_hp_0001393_human_phenotype_ontology_hp_0001398_human_phenotype_ontology_hp_0002240_medgen_c0019209 Hepatomegaly Human_Phenotype_Ontology:HP:0001393,Human_Phenotype_Ontology:HP:0001398,Human_Phenotype_Ontology:HP:0002240,MedGen:C0019209 1 1 1.0000 condition_record_support_limited 20 0 1 Hepatomegaly 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIPK1A human_phenotype_ontology_hp_0001028_human_phenotype_ontology_hp_0007444_mondo_mondo_0006500_medgen_c0018916 Hemangioma Human_Phenotype_Ontology:HP:0001028,Human_Phenotype_Ontology:HP:0007444,MONDO:MONDO:0006500,MedGen:C0018916 1 1 1.0000 condition_record_support_limited 20 0 1 Hemangioma 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIPK1A human_phenotype_ontology_hp_0012133_medgen_c0542035 Erythroid hypoplasia Human_Phenotype_Ontology:HP:0012133,MedGen:C0542035 1 1 1.0000 condition_record_support_limited 20 0 1 Erythroid_hypoplasia 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIPK1A human_phenotype_ontology_hp_0000958_medgen_c0151908 Dry skin Human_Phenotype_Ontology:HP:0000958,MedGen:C0151908 1 1 1.0000 condition_record_support_limited 20 0 1 Dry_skin 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIPK1A human_phenotype_ontology_hp_0000494_human_phenotype_ontology_hp_0007714_human_phenotype_ontology_hp_0007908_medgen_c0423110 Downslanted palpebral fissures Human_Phenotype_Ontology:HP:0000494,Human_Phenotype_Ontology:HP:0007714,Human_Phenotype_Ontology:HP:0007908,MedGen:C0423110 1 1 1.0000 condition_record_support_limited 20 0 1 Downslanted_palpebral_fissures 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIPK1A mondo_mondo_0007110_medgen_c2676137_omim_105650_orphanet_124 Diamond-Blackfan anemia 1 MONDO:MONDO:0007110,MedGen:C2676137,OMIM:105650,Orphanet:124 1 1 1.0000 condition_record_support_limited 20 0 1 Diamond-Blackfan_anemia_1 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIPK1A human_phenotype_ontology_hp_0001630_human_phenotype_ontology_hp_0001631_mondo_mondo_0006664_medgen_c0018817_omim_ps108800_orphanet_1478 Atrial septal defect Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478 1 1 1.0000 condition_record_support_limited 20 0 1 Atrial_septal_defect 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIPK1A human_phenotype_ontology_hp_0001915_mondo_mondo_0015909_medgen_c0002874_omim_609135_orphanet_182040_orphanet_88 Aplastic anemia Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88 1 1 1.0000 condition_record_support_limited 20 0 1 Aplastic_anemia 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIPK1A human_phenotype_ontology_hp_0010463_medgen_c0266368 Aplasia of the ovary Human_Phenotype_Ontology:HP:0010463,MedGen:C0266368 1 1 1.0000 condition_record_support_limited 20 0 1 Aplasia_of_the_ovary 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIPK1A human_phenotype_ontology_hp_0000377_human_phenotype_ontology_hp_0000390_human_phenotype_ontology_hp_0000398_human_phenotype_ontology_hp_0004465_human_phenotype_ontology_hp_0008562_human_phenotype_ontology_hp_0008566_human_phenotype_ontology_hp_0008567_human_phenotype_ontology_hp_0008572_human_phenotype_ontology_hp_0008580_human_phenotype_ontology_hp_0008582_human_phenotype_ontology_hp_0008594_human_phenotype_ontology_hp_0008602_human_phenotype_ontology_hp_0040111_medgen_c0857379 Abnormal pinna morphology Human_Phenotype_Ontology:HP:0000377,Human_Phenotype_Ontology:HP:0000390,Human_Phenotype_Ontology:HP:0000398,Human_Phenotype_Ontology:HP:0004465,Human_Phenotype_Ontology:HP:0008562,Human_Phenotype_Ontology:HP:0008566,Human_Phenotype_Ontology:HP:0008567,Human_Phenotype_Ontology:HP:0008572,Human_Phenotype_Ontology:HP:0008580,Human_Phenotype_Ontology:HP:0008582,Human_Phenotype_Ontology:HP:0008594,Human_Phenotype_Ontology:HP:0008602,Human_Phenotype_Ontology:HP:0040111,MedGen:C0857379 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_pinna_morphology 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIP2C mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene DIP2C dip2c_related_neurodevelopmental_disorder DIP2C-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 DIP2C-related_neurodevelopmental_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene DICER1 mondo_mondo_0032607_medgen_c4748741_omim_618223 Vertebral anomalies and variable endocrine and T-cell dysfunction MONDO:MONDO:0032607,MedGen:C4748741,OMIM:618223 1 1 1.0000 condition_record_support_limited 20 0 1 Vertebral_anomalies_and_variable_endocrine_and_T-cell_dysfunction 833 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control DICER1 mondo_mondo_0003145_medgen_c1336538 Supratentorial primitive neuroectodermal tumor MONDO:MONDO:0003145,MedGen:C1336538 1 1 1.0000 condition_record_support_limited 20 0 1 Supratentorial_primitive_neuroectodermal_tumor 833 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control DICER1 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 833 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control DIAPH3 mondo_mondo_0012196_medgen_c1836743_omim_609129_orphanet_90635 Autosomal dominant auditory neuropathy 1 MONDO:MONDO:0012196,MedGen:C1836743,OMIM:609129,Orphanet:90635 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_auditory_neuropathy_1 1 low_record_burden_interpretation_limited low_record_burden_gene DIAPH1 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIAPH1 mondo_mondo_0010134_medgen_c0271829_omim_274600_orphanet_705 Pendred syndrome MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705 1 1 1.0000 condition_record_support_limited 20 0 0 Pendred_syndrome 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIAPH1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIAPH1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIAPH1 human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIAPH1 mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIAPH1 medgen_c0011053 Deafness MedGen:C0011053 1 1 1.0000 condition_record_support_limited 20 0 1 Deafness 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DIAPH1 medgen_c2732267 Auditory neuropathy spectrum disorder MedGen:C2732267 1 1 1.0000 condition_record_support_limited 20 0 0 Auditory_neuropathy_spectrum_disorder 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHX9 dhx9_related_neurodevelopmental_disorder DHX9-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 DHX9-related_neurodevelopmental_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene DHX9 dhx9_related_disorder DHX9-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DHX9-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene DHX9 dhx9_associated_neurodevelopmental_disorder DHX9-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 DHX9-associated_neurodevelopmental_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene DHX9 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 1.0000 condition_record_support_limited 20 0 0 Charcot-Marie-Tooth_disease 17 low_record_burden_interpretation_limited low_record_burden_gene DHX8 mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_anomaly_of_kidney_and_urinary_tract 1 low_record_burden_interpretation_limited low_record_burden_gene DHX38 mondo_mondo_0032604_medgen_c4748725_omim_618220 Retinitis pigmentosa 84 MONDO:MONDO:0032604,MedGen:C4748725,OMIM:618220 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa_84 4 low_record_burden_interpretation_limited low_record_burden_gene DHX38 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 4 low_record_burden_interpretation_limited low_record_burden_gene DHX38 medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_retinitis_pigmentosa 4 low_record_burden_interpretation_limited low_record_burden_gene DHX37 human_phenotype_ontology_hp_0002126_mondo_mondo_0000087_medgen_c0266464_orphanet_35981 Polymicrogyria Human_Phenotype_Ontology:HP:0002126,MONDO:MONDO:0000087,MedGen:C0266464,Orphanet:35981 1 1 1.0000 condition_record_support_limited 20 0 1 Polymicrogyria 15 low_record_burden_interpretation_limited low_record_burden_gene DHX37 differences_in_sex_development Differences in sex development . 1 1 1.0000 condition_record_support_limited 20 0 1 Differences_in_sex_development 15 low_record_burden_interpretation_limited low_record_burden_gene DHX37 human_phenotype_ontology_hp_0000588_human_phenotype_ontology_hp_0007997_mondo_mondo_0007354_medgen_c0155299_omim_120430_orphanet_35737_orphanet_98947 Coloboma of optic nerve Human_Phenotype_Ontology:HP:0000588,Human_Phenotype_Ontology:HP:0007997,MONDO:MONDO:0007354,MedGen:C0155299,OMIM:120430,Orphanet:35737,Orphanet:98947 1 1 1.0000 condition_record_support_limited 20 0 1 Coloboma_of_optic_nerve 15 low_record_burden_interpretation_limited low_record_burden_gene DHX37 human_phenotype_ontology_hp_0007786_human_phenotype_ontology_hp_0007858_medgen_c1844751 Chorioretinal lacunae Human_Phenotype_Ontology:HP:0007786,Human_Phenotype_Ontology:HP:0007858,MedGen:C1844751 1 1 1.0000 condition_record_support_limited 20 0 1 Chorioretinal_lacunae 15 low_record_burden_interpretation_limited low_record_burden_gene DHX37 human_phenotype_ontology_hp_0001266_human_phenotype_ontology_hp_0002469_human_phenotype_ontology_hp_0006811_human_phenotype_ontology_hp_0007028_human_phenotype_ontology_hp_0007337_medgen_c0085583 Choreoathetosis Human_Phenotype_Ontology:HP:0001266,Human_Phenotype_Ontology:HP:0002469,Human_Phenotype_Ontology:HP:0006811,Human_Phenotype_Ontology:HP:0007028,Human_Phenotype_Ontology:HP:0007337,MedGen:C0085583 1 1 1.0000 condition_record_support_limited 20 0 1 Choreoathetosis 15 low_record_burden_interpretation_limited low_record_burden_gene DHX37 human_phenotype_ontology_hp_0006893_human_phenotype_ontology_hp_0007033_medgen_c3278322 Cerebellar dysplasia Human_Phenotype_Ontology:HP:0006893,Human_Phenotype_Ontology:HP:0007033,MedGen:C3278322 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_dysplasia 15 low_record_burden_interpretation_limited low_record_burden_gene DHX37 human_phenotype_ontology_hp_0002269_human_phenotype_ontology_hp_0007317_medgen_c1837249 Abnormality of neuronal migration Human_Phenotype_Ontology:HP:0002269,Human_Phenotype_Ontology:HP:0007317,MedGen:C1837249 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_neuronal_migration 15 low_record_burden_interpretation_limited low_record_burden_gene DHX37 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_morphology 15 low_record_burden_interpretation_limited low_record_burden_gene DHX34 human_phenotype_ontology_hp_0000122_mondo_mondo_0019636_medgen_c0266294_orphanet_93100 Unilateral renal agenesis Human_Phenotype_Ontology:HP:0000122,MONDO:MONDO:0019636,MedGen:C0266294,Orphanet:93100 1 1 1.0000 condition_record_support_limited 20 0 1 Unilateral_renal_agenesis 3 low_record_burden_interpretation_limited low_record_burden_gene DHX34 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 3 low_record_burden_interpretation_limited low_record_burden_gene DHX34 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 3 low_record_burden_interpretation_limited low_record_burden_gene DHX34 human_phenotype_ontology_hp_0005565_human_phenotype_ontology_hp_0005573_medgen_c3807131 Reduced renal corticomedullary differentiation Human_Phenotype_Ontology:HP:0005565,Human_Phenotype_Ontology:HP:0005573,MedGen:C3807131 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_renal_corticomedullary_differentiation 3 low_record_burden_interpretation_limited low_record_burden_gene DHX34 human_phenotype_ontology_hp_0005808_human_phenotype_ontology_hp_0100259_mondo_mondo_0020927_medgen_c0220697_omim_ps174200 Postaxial polydactyly Human_Phenotype_Ontology:HP:0005808,Human_Phenotype_Ontology:HP:0100259,MONDO:MONDO:0020927,MedGen:C0220697,OMIM:PS174200 1 1 1.0000 condition_record_support_limited 20 0 1 Postaxial_polydactyly 3 low_record_burden_interpretation_limited low_record_burden_gene DHX34 human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Polycystic kidney disease Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 1 1 1.0000 condition_record_support_limited 20 0 1 Polycystic_kidney_disease 3 low_record_burden_interpretation_limited low_record_burden_gene DHX34 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene DHX34 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 3 low_record_burden_interpretation_limited low_record_burden_gene DHX34 human_phenotype_ontology_hp_0002097_human_phenotype_ontology_hp_0006534_mondo_mondo_0004849_medgen_c0034067 Emphysema Human_Phenotype_Ontology:HP:0002097,Human_Phenotype_Ontology:HP:0006534,MONDO:MONDO:0004849,MedGen:C0034067 1 1 1.0000 condition_record_support_limited 20 0 1 Emphysema 3 low_record_burden_interpretation_limited low_record_burden_gene DHX30 human_phenotype_ontology_hp_0002317_medgen_c0231686 Unsteady gait Human_Phenotype_Ontology:HP:0002317,MedGen:C0231686 1 1 1.0000 condition_record_support_limited 20 0 1 Unsteady_gait 19 low_record_burden_interpretation_limited low_record_burden_gene DHX30 human_phenotype_ontology_hp_0002360_medgen_c0037317 Sleep disturbance Human_Phenotype_Ontology:HP:0002360,MedGen:C0037317 1 1 1.0000 condition_record_support_limited 20 0 1 Sleep_disturbance 19 low_record_burden_interpretation_limited low_record_burden_gene DHX30 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 19 low_record_burden_interpretation_limited low_record_burden_gene DHX30 human_phenotype_ontology_hp_0000628_human_phenotype_ontology_hp_0000657_human_phenotype_ontology_hp_0007764_medgen_c3489733 Oculomotor apraxia Human_Phenotype_Ontology:HP:0000628,Human_Phenotype_Ontology:HP:0000657,Human_Phenotype_Ontology:HP:0007764,MedGen:C3489733 1 1 1.0000 condition_record_support_limited 20 0 1 Oculomotor_apraxia 19 low_record_burden_interpretation_limited low_record_burden_gene DHX30 human_phenotype_ontology_hp_0001007_medgen_c0019572 Hirsutism Human_Phenotype_Ontology:HP:0001007,MedGen:C0019572 1 1 1.0000 condition_record_support_limited 20 0 1 Hirsutism 19 low_record_burden_interpretation_limited low_record_burden_gene DHX30 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 19 low_record_burden_interpretation_limited low_record_burden_gene DHX30 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 19 low_record_burden_interpretation_limited low_record_burden_gene DHX30 human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive 19 low_record_burden_interpretation_limited low_record_burden_gene DHX30 human_phenotype_ontology_hp_0001346_human_phenotype_ontology_hp_0002353_human_phenotype_ontology_hp_0002429_human_phenotype_ontology_hp_0006841_medgen_c0151611 EEG abnormality Human_Phenotype_Ontology:HP:0001346,Human_Phenotype_Ontology:HP:0002353,Human_Phenotype_Ontology:HP:0002429,Human_Phenotype_Ontology:HP:0006841,MedGen:C0151611 1 1 1.0000 condition_record_support_limited 20 0 1 EEG_abnormality 19 low_record_burden_interpretation_limited low_record_burden_gene DHX30 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 19 low_record_burden_interpretation_limited low_record_burden_gene DHX30 human_phenotype_ontology_hp_0002320_human_phenotype_ontology_hp_0008936_medgen_c1853743 Axial hypotonia Human_Phenotype_Ontology:HP:0002320,Human_Phenotype_Ontology:HP:0008936,MedGen:C1853743 1 1 1.0000 condition_record_support_limited 20 0 1 Axial_hypotonia 19 low_record_burden_interpretation_limited low_record_burden_gene DHX30 mondo_mondo_0020836_medgen_cn301178_omim_ps209850 Autism, susceptiblity to MONDO:MONDO:0020836,MedGen:CN301178,OMIM:PS209850 1 1 1.0000 condition_record_support_limited 20 0 0 Autism,_susceptiblity_to 19 low_record_burden_interpretation_limited low_record_burden_gene DHX30 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 19 low_record_burden_interpretation_limited low_record_burden_gene DHX30 human_phenotype_ontology_hp_0002500_human_phenotype_ontology_hp_0200100_medgen_c0948163 Abnormal cerebral white matter morphology Human_Phenotype_Ontology:HP:0002500,Human_Phenotype_Ontology:HP:0200100,MedGen:C0948163 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cerebral_white_matter_morphology 19 low_record_burden_interpretation_limited low_record_burden_gene DHX16 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene DHX16 human_phenotype_ontology_hp_0005565_human_phenotype_ontology_hp_0005573_medgen_c3807131 Reduced renal corticomedullary differentiation Human_Phenotype_Ontology:HP:0005565,Human_Phenotype_Ontology:HP:0005573,MedGen:C3807131 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_renal_corticomedullary_differentiation 7 low_record_burden_interpretation_limited low_record_burden_gene DHX16 human_phenotype_ontology_hp_0002272_human_phenotype_ontology_hp_0007165_medgen_c5399973 Periventricular heterotopia Human_Phenotype_Ontology:HP:0002272,Human_Phenotype_Ontology:HP:0007165,MedGen:C5399973 1 1 1.0000 condition_record_support_limited 20 0 1 Periventricular_heterotopia 7 low_record_burden_interpretation_limited low_record_burden_gene DHX16 human_phenotype_ontology_hp_0005562_medgen_c0431718 Multiple renal cysts Human_Phenotype_Ontology:HP:0005562,MedGen:C0431718 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_renal_cysts 7 low_record_burden_interpretation_limited low_record_burden_gene DHX16 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 7 low_record_burden_interpretation_limited low_record_burden_gene DHX16 human_phenotype_ontology_hp_0000105_medgen_c0542518 Enlarged kidney Human_Phenotype_Ontology:HP:0000105,MedGen:C0542518 1 1 1.0000 condition_record_support_limited 20 0 1 Enlarged_kidney 7 low_record_burden_interpretation_limited low_record_burden_gene DHX16 human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Corpus callosum, agenesis of Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 1.0000 condition_record_support_limited 20 0 1 Corpus_callosum,_agenesis_of 7 low_record_burden_interpretation_limited low_record_burden_gene DHX16 human_phenotype_ontology_hp_0007786_human_phenotype_ontology_hp_0007858_medgen_c1844751 Chorioretinal lacunae Human_Phenotype_Ontology:HP:0007786,Human_Phenotype_Ontology:HP:0007858,MedGen:C1844751 1 1 1.0000 condition_record_support_limited 20 0 1 Chorioretinal_lacunae 7 low_record_burden_interpretation_limited low_record_burden_gene DHRSX mondo_mondo_0975846_medgen_c5974887_omim_301133 Congenital disorder of glycosylation, type 1DD MONDO:MONDO:0975846,MedGen:C5974887,OMIM:301133 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_disorder_of_glycosylation,_type_1DD 1 low_record_burden_interpretation_limited low_record_burden_gene DHRS3 mondo_mondo_0980974_medgen_cn380869_omim_621499 Craniosynostosis-scoliosis syndrome MONDO:MONDO:0980974,MedGen:CN380869,OMIM:621499 1 1 1.0000 condition_record_support_limited 20 0 1 Craniosynostosis-scoliosis_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene DHODH dhodh_related_disorder DHODH-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DHODH-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene DHH dhh_related_disorder DHH-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 DHH-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene DHDDS human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHDDS dhdds_related_disorder DHDDS-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 DHDDS-related_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHCR7 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 300 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHCR7 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_morphology 300 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DHCR24 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene DHCR24 human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 1.0000 condition_record_support_limited 20 0 1 Non-immune_hydrops_fetalis 6 low_record_burden_interpretation_limited low_record_burden_gene DGUOK human_phenotype_ontology_hp_0001409_mondo_mondo_0005080_mesh_d006975_medgen_c0020541 Portal hypertension Human_Phenotype_Ontology:HP:0001409,MONDO:MONDO:0005080,MeSH:D006975,MedGen:C0020541 1 1 1.0000 condition_record_support_limited 20 0 0 Portal_hypertension 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DGKZ atypical_cerebral_palsy atypical cerebral palsy . 1 1 1.0000 condition_record_support_limited 20 0 0 atypical_cerebral_palsy 1 low_record_burden_interpretation_limited low_record_burden_gene DGKH mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 1 low_record_burden_interpretation_limited low_record_burden_gene DGKG mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 1 low_record_burden_interpretation_limited low_record_burden_gene DGKE susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DGKE human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 1.0000 condition_record_support_limited 20 0 1 Nephrotic_syndrome 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DGKE human_phenotype_ontology_hp_0005575_mondo_mondo_0001549_medgen_c0019061_orphanet_544458 Hemolytic-uremic syndrome Human_Phenotype_Ontology:HP:0005575,MONDO:MONDO:0001549,MedGen:C0019061,Orphanet:544458 1 1 1.0000 condition_record_support_limited 20 0 1 Hemolytic-uremic_syndrome 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DGKE mondo_mondo_0009335_medgen_c2749604_omim_235400_orphanet_2134_orphanet_90038 Hemolytic uremic syndrome, atypical, susceptibility to, 1 MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038 1 1 1.0000 condition_record_support_limited 20 0 0 Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DGKE dgke_related_disorder DGKE-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DGKE-related_disorder 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DGAT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 74 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DES mondo_mondo_0019490_medgen_cn230454_omim_ps113900_orphanet_871 Progressive familial heart block MONDO:MONDO:0019490,MedGen:CN230454,OMIM:PS113900,Orphanet:871 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_familial_heart_block 123 compact_adjacent_exon_block_opportunity local_compact_architecture DES mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 Primary familial hypertrophic cardiomyopathy MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_familial_hypertrophic_cardiomyopathy 123 compact_adjacent_exon_block_opportunity local_compact_architecture DES mondo_mondo_0016333_medgen_c0340427_omim_ps115200_orphanet_217607 Primary familial dilated cardiomyopathy MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_familial_dilated_cardiomyopathy 123 compact_adjacent_exon_block_opportunity local_compact_architecture DES human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Limb-girdle muscular dystrophy Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 1.0000 condition_record_support_limited 20 0 1 Limb-girdle_muscular_dystrophy 123 compact_adjacent_exon_block_opportunity local_compact_architecture DES mondo_mondo_0013262_medgen_c1834481_omim_613426_orphanet_154_orphanet_54260 Dilated cardiomyopathy 1S MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426,Orphanet:154,Orphanet:54260 1 1 1.0000 condition_record_support_limited 20 0 0 Dilated_cardiomyopathy_1S 123 compact_adjacent_exon_block_opportunity local_compact_architecture DES des_related_desminopathy DES-related desminopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 DES-related_desminopathy 123 compact_adjacent_exon_block_opportunity local_compact_architecture DES des_related_cardiomyopathy DES-related cardiomyopathy . 1 1 1.0000 condition_record_support_limited 20 0 0 DES-related_cardiomyopathy 123 compact_adjacent_exon_block_opportunity local_compact_architecture DES human_phenotype_ontology_hp_0001662_medgen_c0428977 Bradycardia Human_Phenotype_Ontology:HP:0001662,MedGen:C0428977 1 1 1.0000 condition_record_support_limited 20 0 1 Bradycardia 123 compact_adjacent_exon_block_opportunity local_compact_architecture DES mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 Arrhythmogenic right ventricular cardiomyopathy MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 1 1 1.0000 condition_record_support_limited 20 0 1 Arrhythmogenic_right_ventricular_cardiomyopathy 123 compact_adjacent_exon_block_opportunity local_compact_architecture DES human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 123 compact_adjacent_exon_block_opportunity local_compact_architecture DEPDC5 efo_the_experimental_factor_ontology_efo_0005303_mesh_d013398_medgen_c0038644_omim_272120 SUDDEN INFANT DEATH SYNDROME EFO:_The_Experimental_Factor_Ontology:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120 1 1 1.0000 condition_record_support_limited 20 0 1 SUDDEN_INFANT_DEATH_SYNDROME 382 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DEPDC5 efo_efo_0005303_mesh_d013398_medgen_c0038644_omim_272120 SUDDEN INFANT DEATH SYNDROME EFO:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120 1 1 1.0000 condition_record_support_limited 20 0 1 SUDDEN_INFANT_DEATH_SYNDROME 382 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DEPDC5 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 382 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DEPDC5 mondo_mondo_0100062_medgen_cn379639_omim_ps308350 Genetic developmental and epileptic encephalopathy MONDO:MONDO:0100062,MedGen:CN379639,OMIM:PS308350 1 1 1.0000 condition_record_support_limited 20 0 0 Genetic_developmental_and_epileptic_encephalopathy 382 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DEPDC5 mondo_mondo_0957780_medgen_c5882690_omim_620504 Developmental and epileptic encephalopathy 111 MONDO:MONDO:0957780,MedGen:C5882690,OMIM:620504 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy_111 382 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DEPDC5 human_phenotype_ontology_hp_0002539_human_phenotype_ontology_hp_0007139_mondo_mondo_0017094_medgen_c0431380_orphanet_268950 Cortical dysplasia Human_Phenotype_Ontology:HP:0002539,Human_Phenotype_Ontology:HP:0007139,MONDO:MONDO:0017094,MedGen:C0431380,Orphanet:268950 1 1 1.0000 condition_record_support_limited 20 0 1 Cortical_dysplasia 382 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DENND5B condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene DENND5B dennd5b_related_neurodevelopmental_disorder DENND5B-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DENND5B-related_neurodevelopmental_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene DENND5A mondo_mondo_0011738_medgen_c1847352_omim_606854_orphanet_101070 Bilateral frontoparietal polymicrogyria MONDO:MONDO:0011738,MedGen:C1847352,OMIM:606854,Orphanet:101070 1 1 1.0000 condition_record_support_limited 20 0 0 Bilateral_frontoparietal_polymicrogyria 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DENND4B human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene DENND4A condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene DENND3 mondo_mondo_0007723_medgen_c3888239_omim_142623_orphanet_388 Hirschsprung disease, susceptibility to, 1 MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388 1 1 1.0000 condition_record_support_limited 20 0 0 Hirschsprung_disease,_susceptibility_to,_1 1 low_record_burden_interpretation_limited low_record_burden_gene DEGS1 human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Leukodystrophy Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 1.0000 condition_record_support_limited 20 0 1 Leukodystrophy 19 low_record_burden_interpretation_limited low_record_burden_gene DEAF1 mondo_mondo_0015802_medgen_c5680502_orphanet_178469 Autosomal dominant non-syndromic intellectual disability MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_non-syndromic_intellectual_disability 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DEAF1 mondo_mondo_0020836_medgen_cn301178_omim_ps209850 Autism, susceptiblity to MONDO:MONDO:0020836,MedGen:CN301178,OMIM:PS209850 1 1 1.0000 condition_record_support_limited 20 0 0 Autism,_susceptiblity_to 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DEAF1 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DEAF1 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 0 Autism 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX54 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 3 low_record_burden_interpretation_limited low_record_burden_gene DDX41 mondo_mondo_0017893_medgen_c4707228_orphanet_319465 Inherited acute myeloid leukemia MONDO:MONDO:0017893,MedGen:C4707228,Orphanet:319465 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_acute_myeloid_leukemia 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX41 mondo_mondo_0014539_medgen_c4015555_omim_616220_orphanet_656 Focal segmental glomerulosclerosis 9 MONDO:MONDO:0014539,MedGen:C4015555,OMIM:616220,Orphanet:656 1 1 1.0000 condition_record_support_limited 20 0 1 Focal_segmental_glomerulosclerosis_9 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX41 human_phenotype_ontology_hp_0005528_human_phenotype_ontology_hp_0005529_human_phenotype_ontology_hp_0100549_medgen_c1855710 Bone marrow hypocellularity Human_Phenotype_Ontology:HP:0005528,Human_Phenotype_Ontology:HP:0005529,Human_Phenotype_Ontology:HP:0100549,MedGen:C1855710 1 1 1.0000 condition_record_support_limited 20 0 1 Bone_marrow_hypocellularity 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX3X mondo_mondo_0010355_medgen_c1845243_omim_300534_orphanet_85279 Syndromic X-linked intellectual disability Claes-Jensen type MONDO:MONDO:0010355,MedGen:C1845243,OMIM:300534,Orphanet:85279 1 1 1.0000 condition_record_support_limited 20 0 1 Syndromic_X-linked_intellectual_disability_Claes-Jensen_type 366 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX3X human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 366 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX3X human_phenotype_ontology_hp_0002885_mondo_mondo_0007959_mesh_d008527_medgen_c0025149_omim_155255_orphanet_616 Medulloblastoma Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616 1 1 1.0000 condition_record_support_limited 20 0 1 Medulloblastoma 366 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX3X marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 1 1 1.0000 condition_record_support_limited 20 0 0 Marfanoid_habitus_and_intellectual_disability 366 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX3X human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 366 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX3X ddx3x_related_x_linked_intellectual_disability DDX3X-related X-linked intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 0 DDX3X-related_X-linked_intellectual_disability 366 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX3X ddx3x_related_neurodevelopmental_disorder DDX3X-Related Neurodevelopmental Disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 DDX3X-Related_Neurodevelopmental_Disorder 366 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX3X human_phenotype_ontology_hp_0001320_medgen_c1840379 Cerebellar vermis hypoplasia Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_vermis_hypoplasia 366 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX39A condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene DDX25 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene DDX25 mondo_mondo_0009365_medgen_c1856016_omim_236680_orphanet_2189 Hydrolethalus syndrome 1 MONDO:MONDO:0009365,MedGen:C1856016,OMIM:236680,Orphanet:2189 1 1 1.0000 condition_record_support_limited 20 0 1 Hydrolethalus_syndrome_1 2 low_record_burden_interpretation_limited low_record_burden_gene DDX25 mondo_mondo_0006037_medgen_c2931104_omim_ps236680_orphanet_2189 Hydrolethalus syndrome MONDO:MONDO:0006037,MedGen:C2931104,OMIM:PS236680,Orphanet:2189 1 1 1.0000 condition_record_support_limited 20 0 1 Hydrolethalus_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene DDX25 human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Azoospermia Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 1.0000 condition_record_support_limited 20 0 0 Azoospermia 2 low_record_burden_interpretation_limited low_record_burden_gene DDX23 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene DDX23 human_phenotype_ontology_hp_0032407_mondo_mondo_0020340_medgen_c1845668_orphanet_98889 Congenital bilateral perisylvian syndrome Human_Phenotype_Ontology:HP:0032407,MONDO:MONDO:0020340,MedGen:C1845668,Orphanet:98889 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_bilateral_perisylvian_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene DDX17 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene DDX11 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDX11 ddx11_related_condition DDX11-related condition . 1 1 1.0000 condition_record_support_limited 20 0 1 DDX11-related_condition 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDR2 mondo_mondo_0032579_medgen_c5193019_omim_618175 Warburg-cinotti syndrome MONDO:MONDO:0032579,MedGen:C5193019,OMIM:618175 1 1 1.0000 condition_record_support_limited 20 0 1 Warburg-cinotti_syndrome 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDR2 human_phenotype_ontology_hp_0001511_human_phenotype_ontology_hp_0001515_human_phenotype_ontology_hp_0008862_human_phenotype_ontology_hp_0008892_human_phenotype_ontology_hp_0008931_mondo_mondo_0005030_medgen_c0015934 Fetal growth restriction Human_Phenotype_Ontology:HP:0001511,Human_Phenotype_Ontology:HP:0001515,Human_Phenotype_Ontology:HP:0008862,Human_Phenotype_Ontology:HP:0008892,Human_Phenotype_Ontology:HP:0008931,MONDO:MONDO:0005030,MedGen:C0015934 1 1 1.0000 condition_record_support_limited 20 0 0 Fetal_growth_restriction 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDHD2 mondo_mondo_0012433_medgen_c1857779_omim_610189_orphanet_3156 Senior-Loken syndrome 6 MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156 1 1 1.0000 condition_record_support_limited 20 0 1 Senior-Loken_syndrome_6 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDHD2 human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 1.0000 condition_record_support_limited 20 0 1 Obesity 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDHD2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDHD2 mondo_mondo_0100574_medgen_c0014548 Generalized epilepsy MONDO:MONDO:0100574,MedGen:C0014548 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_epilepsy 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDHD1 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia 30 compact_adjacent_exon_block_opportunity local_compact_architecture DDC mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 1 1 1.0000 condition_record_support_limited 20 0 1 RASopathy 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DDB1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene DDB1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 5 low_record_burden_interpretation_limited low_record_burden_gene DCXR mondo_mondo_0009846_medgen_c0268162_omim_260800_orphanet_2843 Essential pentosuria MONDO:MONDO:0009846,MedGen:C0268162,OMIM:260800,Orphanet:2843 1 1 1.0000 condition_record_support_limited 20 0 1 Essential_pentosuria 1 low_record_burden_interpretation_limited low_record_burden_gene DCXR dcxr_related_disorder DCXR-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DCXR-related_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene DCX human_phenotype_ontology_hp_0032409_mondo_mondo_0020491_medgen_c1848201_orphanet_99796 Subcortical band heterotopia Human_Phenotype_Ontology:HP:0032409,MONDO:MONDO:0020491,MedGen:C1848201,Orphanet:99796 1 1 1.0000 condition_record_support_limited 20 0 0 Subcortical_band_heterotopia 165 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCX mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 165 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCX mondo_mondo_0009254_medgen_c0016788_omim_230000_orphanet_349 Fucosidosis MONDO:MONDO:0009254,MedGen:C0016788,OMIM:230000,Orphanet:349 1 1 1.0000 condition_record_support_limited 20 0 0 Fucosidosis 165 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCX dcx_related_disorder DCX-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 DCX-related_disorder 165 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCX human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 165 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCTN5 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene DCTN5 mondo_mondo_0013236_medgen_c3150547_omim_613348_orphanet_1333 Pancreatic cancer, susceptibility to, 3 MONDO:MONDO:0013236,MedGen:C3150547,OMIM:613348,Orphanet:1333 1 1 1.0000 condition_record_support_limited 20 0 1 Pancreatic_cancer,_susceptibility_to,_3 1 low_record_burden_interpretation_limited low_record_burden_gene DCTN5 palb2_related_disorder PALB2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PALB2-related_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene DCTN5 inherited_prostate_cancer Inherited prostate cancer . 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_prostate_cancer 1 low_record_burden_interpretation_limited low_record_burden_gene DCTN5 inherited_ovarian_cancer_without_breast_cancer Inherited ovarian cancer (without breast cancer) . 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_ovarian_cancer_(without_breast_cancer) 1 low_record_burden_interpretation_limited low_record_burden_gene DCTN5 inherited_breast_cancer_and_ovarian_cancer Inherited breast cancer and ovarian cancer . 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_breast_cancer_and_ovarian_cancer 1 low_record_burden_interpretation_limited low_record_burden_gene DCTN5 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer-predisposing_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene DCTN5 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_breast_ovarian_cancer_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene DCTN5 mondo_mondo_0012565_medgen_c1835817_omim_610832_orphanet_84 Fanconi anemia complementation group N MONDO:MONDO:0012565,MedGen:C1835817,OMIM:610832,Orphanet:84 1 1 1.0000 condition_record_support_limited 20 0 1 Fanconi_anemia_complementation_group_N 1 low_record_burden_interpretation_limited low_record_burden_gene DCTN5 mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_cancer_of_breast 1 low_record_burden_interpretation_limited low_record_burden_gene DCTN5 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 1 Colorectal_cancer 1 low_record_burden_interpretation_limited low_record_burden_gene DCTN5 mondo_mondo_0957530_medgen_c5830615_omim_620442 Breast-ovarian cancer, familial, susceptibility to, 5 MONDO:MONDO:0957530,MedGen:C5830615,OMIM:620442 1 1 1.0000 condition_record_support_limited 20 0 1 Breast-ovarian_cancer,_familial,_susceptibility_to,_5 1 low_record_burden_interpretation_limited low_record_burden_gene DCTN5 breast_and_or_ovarian_cancer Breast and/or ovarian cancer MedGen:CN221562 1 1 1.0000 condition_record_support_limited 20 0 1 Breast_and/or_ovarian_cancer 1 low_record_burden_interpretation_limited low_record_burden_gene DCTN1 dctn1_related_disorder DCTN1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DCTN1-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene DCT condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene DCPS condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene DCLRE1C medgen_c1865373 Severe combined immunodeficiency, partial MedGen:C1865373 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_combined_immunodeficiency,_partial 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCLRE1C mondo_mondo_0016002_medgen_c0268342_omim_225400_orphanet_1900 Ehlers-Danlos syndrome, kyphoscoliotic type 1 MONDO:MONDO:0016002,MedGen:C0268342,OMIM:225400,Orphanet:1900 1 1 1.0000 condition_record_support_limited 20 0 1 Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCLRE1C mondo_mondo_0009165_medgen_c0796126_omim_225750_orphanet_51 Aicardi-Goutieres syndrome 1 MONDO:MONDO:0009165,MedGen:C0796126,OMIM:225750,Orphanet:51 1 1 1.0000 condition_record_support_limited 20 0 1 Aicardi-Goutieres_syndrome_1 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCLRE1B condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene DCLRE1B mondo_mondo_0013551_medgen_c3279738_omim_614066_orphanet_280763 Hereditary spastic paraplegia 47 MONDO:MONDO:0013551,MedGen:C3279738,OMIM:614066,Orphanet:280763 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia_47 6 low_record_burden_interpretation_limited low_record_burden_gene DCHS1 dchs1_related_disorders DCHS1-Related Disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 DCHS1-Related_Disorders 40 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture DCDC2 mesh_c580334_medgen_c3711374 Nonsyndromic Deafness MeSH:C580334,MedGen:C3711374 1 1 1.0000 condition_record_support_limited 20 0 1 Nonsyndromic_Deafness 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCDC2 mondo_mondo_0010843_medgen_c1838436_omim_600202 Dyslexia, susceptibility to, 2 MONDO:MONDO:0010843,MedGen:C1838436,OMIM:600202 1 1 1.0000 condition_record_support_limited 20 0 1 Dyslexia,_susceptibility_to,_2 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCDC2 mondo_mondo_0009528_medgen_c0795956_omim_246700_orphanet_71 Chylomicron retention disease MONDO:MONDO:0009528,MedGen:C0795956,OMIM:246700,Orphanet:71 1 1 1.0000 condition_record_support_limited 20 0 0 Chylomicron_retention_disease 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCDC1 susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 1 low_record_burden_interpretation_limited low_record_burden_gene DCC human_phenotype_ontology_hp_0001338_human_phenotype_ontology_hp_0006982_human_phenotype_ontology_hp_0007090_human_phenotype_ontology_hp_0007128_medgen_c0431368 Partial agenesis of the corpus callosum Human_Phenotype_Ontology:HP:0001338,Human_Phenotype_Ontology:HP:0006982,Human_Phenotype_Ontology:HP:0007090,Human_Phenotype_Ontology:HP:0007128,MedGen:C0431368 1 1 1.0000 condition_record_support_limited 20 0 0 Partial_agenesis_of_the_corpus_callosum 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCC mondo_mondo_0100515_medgen_cn322311 Mirror movements 1 and/or agenesis of the corpus callosum MONDO:MONDO:0100515,MedGen:CN322311 1 1 1.0000 condition_record_support_limited 20 0 0 Mirror_movements_1_and/or_agenesis_of_the_corpus_callosum 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCC medgen_c4015970 Esophageal carcinoma, somatic MedGen:C4015970 1 1 1.0000 condition_record_support_limited 20 0 0 Esophageal_carcinoma,_somatic 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCC mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCC mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 1 1 1.0000 condition_record_support_limited 20 0 0 Carcinoma_of_colon 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCC mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCAF8 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene DCAF8 mondo_mondo_0012411_medgen_c1864695_omim_610100_orphanet_401964 Giant axonal neuropathy 2 MONDO:MONDO:0012411,MedGen:C1864695,OMIM:610100,Orphanet:401964 1 1 1.0000 condition_record_support_limited 20 0 1 Giant_axonal_neuropathy_2 1 low_record_burden_interpretation_limited low_record_burden_gene DCAF6 human_phenotype_ontology_hp_0012207_medgen_c4082176 Reduced sperm motility Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_sperm_motility 9 low_record_burden_interpretation_limited low_record_burden_gene DCAF6 mondo_mondo_0007748_medgen_c0342639_omim_143870 Familial idiopathic hypercalciuria MONDO:MONDO:0007748,MedGen:C0342639,OMIM:143870 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_idiopathic_hypercalciuria 9 low_record_burden_interpretation_limited low_record_burden_gene DCAF6 human_phenotype_ontology_hp_0012864_medgen_c0403824 Abnormal sperm morphology Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_sperm_morphology 9 low_record_burden_interpretation_limited low_record_burden_gene DCAF6 adcy10_related_disorder ADCY10-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ADCY10-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene DCAF17 dcaf17_related_disorder DCAF17-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DCAF17-related_disorder 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DCAF12L1 medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 1 low_record_burden_interpretation_limited low_record_burden_gene DBR1 mondo_mondo_0030334_medgen_c5561941_omim_619441 Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 MONDO:MONDO:0030334,MedGen:C5561941,OMIM:619441 1 1 1.0000 condition_record_support_limited 20 0 0 Encephalitis,_acute,_infection_(viral)-induced,_susceptibility_to,_11 1 low_record_burden_interpretation_limited low_record_burden_gene DBNL human_phenotype_ontology_hp_0003201_medgen_c0035410 Rhabdomyolysis Human_Phenotype_Ontology:HP:0003201,MedGen:C0035410 1 1 1.0000 condition_record_support_limited 20 0 0 Rhabdomyolysis 12 low_record_burden_interpretation_limited low_record_burden_gene DBNL pgam2_related_disorder PGAM2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PGAM2-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene DBH condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene DBH mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 10 low_record_burden_interpretation_limited low_record_burden_gene DARS2 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DARS2 dars2_related_disorder DARS2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DARS2-related_disorder 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DARS1 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 11 low_record_burden_interpretation_limited low_record_burden_gene DAP3 dap3_related_disorder DAP3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 DAP3-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene DAND5 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene DAND5 human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Heterotaxy Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 1 1 1.0000 condition_record_support_limited 20 0 1 Heterotaxy 1 low_record_burden_interpretation_limited low_record_burden_gene DAGLA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 8 low_record_burden_interpretation_limited low_record_burden_gene DAGLA mondo_mondo_0020380_medgen_c4087347_omim_ps164400_orphanet_99 Autosomal dominant cerebellar ataxia MONDO:MONDO:0020380,MedGen:C4087347,OMIM:PS164400,Orphanet:99 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_cerebellar_ataxia 8 low_record_burden_interpretation_limited low_record_burden_gene DAG1 human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Elevated circulating creatine kinase concentration Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 1 1 1.0000 condition_record_support_limited 20 0 0 Elevated_circulating_creatine_kinase_concentration 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DAG1 dag1_related_disorder DAG1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 DAG1-related_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture DACT1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene DACT1 dact1_related_neural_tube_defects DACT1-related neural tube defects . 1 1 1.0000 condition_record_support_limited 20 0 0 DACT1-related_neural_tube_defects 8 low_record_burden_interpretation_limited low_record_burden_gene DAB1 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia 1 low_record_burden_interpretation_limited low_record_burden_gene D2HGDH mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture D2HGDH d2hgdh_related_disorder D2HGDH-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 D2HGDH-related_disorder 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYS1 mondo_mondo_0009889_mesh_d017044_medgen_c0085548_orphanet_731_orphanet_8378 Autosomal recessive polycystic kidney disease MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_polycystic_kidney_disease 1 low_record_burden_interpretation_limited low_record_burden_gene CYP7B1 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP7A1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene CYP51A1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene CYP4V2 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP4V2 human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 1.0000 condition_record_support_limited 20 0 1 Optic_atrophy 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP4V2 human_phenotype_ontology_hp_0001139_mondo_mondo_0010557_medgen_c0008525_omim_303100_orphanet_180 Choroideremia Human_Phenotype_Ontology:HP:0001139,MONDO:MONDO:0010557,MedGen:C0008525,OMIM:303100,Orphanet:180 1 1 1.0000 condition_record_support_limited 20 0 1 Choroideremia 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP4F22 cyp4f22_related_disorder CYP4F22-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CYP4F22-related_disorder 56 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP3A4 mondo_mondo_0033640_medgen_c5436733_omim_619073 Vitamin D-dependent rickets, type 3 MONDO:MONDO:0033640,MedGen:C5436733,OMIM:619073 1 1 1.0000 condition_record_support_limited 20 0 0 Vitamin_D-dependent_rickets,_type_3 2 low_record_burden_interpretation_limited low_record_burden_gene CYP3A4 mondo_mondo_0005439_medgen_c0020445_omim_ps143890 Familial hypercholesterolemia MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_hypercholesterolemia 2 low_record_burden_interpretation_limited low_record_burden_gene CYP2U1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 51 compact_adjacent_exon_block_opportunity local_compact_architecture CYP2U1 human_phenotype_ontology_hp_0002180_mondo_mondo_0005559_medgen_c0027746 Neurodegeneration Human_Phenotype_Ontology:HP:0002180,MONDO:MONDO:0005559,MedGen:C0027746 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodegeneration 51 compact_adjacent_exon_block_opportunity local_compact_architecture CYP2U1 human_phenotype_ontology_hp_0002061_medgen_c1271100 Lower limb spasticity Human_Phenotype_Ontology:HP:0002061,MedGen:C1271100 1 1 1.0000 condition_record_support_limited 20 0 1 Lower_limb_spasticity 51 compact_adjacent_exon_block_opportunity local_compact_architecture CYP2U1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 51 compact_adjacent_exon_block_opportunity local_compact_architecture CYP2U1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 51 compact_adjacent_exon_block_opportunity local_compact_architecture CYP2U1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 51 compact_adjacent_exon_block_opportunity local_compact_architecture CYP2U1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 51 compact_adjacent_exon_block_opportunity local_compact_architecture CYP2R1 mondo_mondo_0009924_medgen_c0268689_orphanet_289157 Vitamin D-dependent rickets, type 1 MONDO:MONDO:0009924,MedGen:C0268689,Orphanet:289157 1 1 1.0000 condition_record_support_limited 20 0 1 Vitamin_D-dependent_rickets,_type_1 30 compact_adjacent_exon_block_opportunity local_compact_architecture CYP2R1 hypophosphataemia_or_rickets Hypophosphataemia or rickets . 1 1 1.0000 condition_record_support_limited 20 0 1 Hypophosphataemia_or_rickets 30 compact_adjacent_exon_block_opportunity local_compact_architecture CYP2C9 mondo_mondo_0007390_medgen_c0750384_omim_122700 Warfarin response MONDO:MONDO:0007390,MedGen:C0750384,OMIM:122700 1 1 1.0000 condition_record_support_limited 20 0 0 Warfarin_response 1 low_record_burden_interpretation_limited low_record_burden_gene CYP2C8 medgen_c4693948_omim_618018 DRUG METABOLISM, ALTERED, CYP2C8-RELATED MedGen:C4693948,OMIM:618018 1 1 1.0000 condition_record_support_limited 20 0 0 DRUG_METABOLISM,_ALTERED,_CYP2C8-RELATED 1 low_record_burden_interpretation_limited low_record_burden_gene CYP27B1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP27A1 mondo_mondo_0009962_medgen_c4551559_omim_266900_orphanet_3156 Senior-Loken syndrome 1 MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900,Orphanet:3156 1 1 1.0000 condition_record_support_limited 20 0 1 Senior-Loken_syndrome_1 214 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP26C1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene CYP24A1 renal_tubulopathies Renal tubulopathies . 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_tubulopathies 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP24A1 human_phenotype_ontology_hp_0003394_human_phenotype_ontology_hp_0009018_medgen_c0037763 Muscle spasm Human_Phenotype_Ontology:HP:0003394,Human_Phenotype_Ontology:HP:0009018,MedGen:C0037763 1 1 1.0000 condition_record_support_limited 20 0 1 Muscle_spasm 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP21A2 medgen_c1859995 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency MedGen:C1859995 1 1 1.0000 condition_record_support_limited 20 0 0 Hyperandrogenism,_nonclassic_type,_due_to_21-hydroxylase_deficiency 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP21A2 mondo_mondo_0008725_medgen_c0342474_omim_201710_orphanet_418_orphanet_90790 Congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:MONDO:0008725,MedGen:C0342474,OMIM:201710,Orphanet:418,Orphanet:90790 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_lipoid_adrenal_hyperplasia_due_to_STAR_deficency 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP21A2 medgen_c1859998 Carcinoma, adrenocortical, androgen-secreting MedGen:C1859998 1 1 1.0000 condition_record_support_limited 20 0 1 Carcinoma,_adrenocortical,_androgen-secreting 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP21A2 medgen_c3151153 Adenoma, cortisol-producing MedGen:C3151153 1 1 1.0000 condition_record_support_limited 20 0 1 Adenoma,_cortisol-producing 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP1B1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP1B1 human_phenotype_ontology_hp_0001087_mondo_mondo_0020367_medgen_c2981140_orphanet_98977 Glaucoma of childhood Human_Phenotype_Ontology:HP:0001087,MONDO:MONDO:0020367,MedGen:C2981140,Orphanet:98977 1 1 1.0000 condition_record_support_limited 20 0 1 Glaucoma_of_childhood 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP1B1 human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Congenital ocular coloboma Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_ocular_coloboma 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP1B1 mondo_mondo_0012688_medgen_c3888124_omim_611544_orphanet_91492 Cataract 17 multiple types MONDO:MONDO:0012688,MedGen:C3888124,OMIM:611544,Orphanet:91492 1 1 1.0000 condition_record_support_limited 20 0 1 Cataract_17_multiple_types 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP19A1 differences_in_sex_development Differences in sex development . 1 1 1.0000 condition_record_support_limited 20 0 0 Differences_in_sex_development 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP17A1 medgen_c3469522 Breast cancer, susceptibility to MedGen:C3469522 1 1 1.0000 condition_record_support_limited 20 0 1 Breast_cancer,_susceptibility_to 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP11B2 mondo_mondo_0018541_medgen_c4275180_orphanet_427 Familial hypoaldosteronism MONDO:MONDO:0018541,MedGen:C4275180,Orphanet:427 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_hypoaldosteronism 131 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP11B2 medgen_c4289986 Aldosterone Synthase Deficiency MedGen:C4289986 1 1 1.0000 condition_record_support_limited 20 0 1 Aldosterone_Synthase_Deficiency 131 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP11A1 mondo_mondo_0010200_medgen_c0019202_omim_277900_orphanet_905 Wilson disease MONDO:MONDO:0010200,MedGen:C0019202,OMIM:277900,Orphanet:905 1 1 1.0000 condition_record_support_limited 20 0 0 Wilson_disease 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP11A1 human_phenotype_ontology_hp_0008258_mondo_mondo_0018479_medgen_c0001627_orphanet_418 Congenital adrenal hyperplasia Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_adrenal_hyperplasia 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP11A1 medgen_c3502131 Congenital Adrenal Insufficiency MedGen:C3502131 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_Adrenal_Insufficiency 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYP11A1 cyp11a1_related_disorder CYP11A1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CYP11A1-related_disorder 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYLD mondo_mondo_0010478_medgen_c3806688_omim_300896_orphanet_356961 SLC35A2-congenital disorder of glycosylation MONDO:MONDO:0010478,MedGen:C3806688,OMIM:300896,Orphanet:356961 1 1 1.0000 condition_record_support_limited 20 0 1 SLC35A2-congenital_disorder_of_glycosylation 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYLD human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYLD mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_cancer-predisposing_syndrome 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYFIP2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYFIP2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYFIP2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYFIP2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYFIP2 cyfip2_related_disorder CYFIP2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CYFIP2-related_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYFIP2 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 0 Autism 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYCS condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene CYCS cycs_related_disorder CYCS-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CYCS-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene CYC1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene CYBC1 mondo_mondo_0030066_medgen_c5394542_omim_618935 Granulomatous disease, chronic, autosomal recessive, 5 MONDO:MONDO:0030066,MedGen:C5394542,OMIM:618935 1 1 1.0000 condition_record_support_limited 20 0 0 Granulomatous_disease,_chronic,_autosomal_recessive,_5 5 low_record_burden_interpretation_limited low_record_burden_gene CYBA mondo_mondo_0009411_medgen_c0085859_omim_240300_orphanet_3453 Polyglandular autoimmune syndrome, type 1 MONDO:MONDO:0009411,MedGen:C0085859,OMIM:240300,Orphanet:3453 1 1 1.0000 condition_record_support_limited 20 0 1 Polyglandular_autoimmune_syndrome,_type_1 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYB5R3 mondo_mondo_0007294_medgen_c5830701_omim_117000_orphanet_597 Central core myopathy MONDO:MONDO:0007294,MedGen:C5830701,OMIM:117000,Orphanet:597 1 1 1.0000 condition_record_support_limited 20 0 1 Central_core_myopathy 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CYB561D2 mondo_mondo_0032788_medgen_c5193132_omim_618501 Cerebellar atrophy with seizures and variable developmental delay MONDO:MONDO:0032788,MedGen:C5193132,OMIM:618501 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebellar_atrophy_with_seizures_and_variable_developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene CXORF65 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene CXORF65 mondo_mondo_0010315_medgen_c1279481_omim_300400_orphanet_276 X-linked severe combined immunodeficiency MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276 1 1 1.0000 condition_record_support_limited 20 0 1 X-linked_severe_combined_immunodeficiency 1 low_record_burden_interpretation_limited low_record_burden_gene CXCR4 mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_Immunodeficiency_Diseases 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CWF19L1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CWF19L1 cwf19l1_related_disorder CWF19L1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CWF19L1-related_disorder 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUX2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene CUL7 mondo_mondo_0800412_medgen_cn043155 Yakut short stature syndrome MONDO:MONDO:0800412,MedGen:CN043155 1 1 1.0000 condition_record_support_limited 20 0 0 Yakut_short_stature_syndrome 126 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CUL7 cul7_related_disorder CUL7-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CUL7-related_disorder 126 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CUL4B human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL4B human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL4B human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL4B cul4b_related_disorder CUL4B-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CUL4B-related_disorder 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL4B cul4b_related_x_linked_intellectual_disability CUL4B-related X-linked intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 1 CUL4B-related_X-linked_intellectual_disability 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL4B human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 61 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL3 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL3 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL3 mondo_mondo_0016996_medgen_c4509932_orphanet_263665 NK-cell enteropathy MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665 1 1 1.0000 condition_record_support_limited 20 0 0 NK-cell_enteropathy 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL3 neurodevelopmental_disorder_with_autism_without_seizures NEURODEVELOPMENTAL DISORDER WITH AUTISM WITHOUT SEIZURES . 1 1 1.0000 condition_record_support_limited 20 0 0 NEURODEVELOPMENTAL_DISORDER_WITH_AUTISM_WITHOUT_SEIZURES 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL3 neurodevelopmental_disorder_with_autism_and_seizures NEURODEVELOPMENTAL DISORDER WITH AUTISM AND SEIZURES . 1 1 1.0000 condition_record_support_limited 20 0 0 NEURODEVELOPMENTAL_DISORDER_WITH_AUTISM_AND_SEIZURES 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL3 mondo_mondo_0100038_medgen_c5568766_orphanet_528084 Complex neurodevelopmental disorder MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 1 1 1.0000 condition_record_support_limited 20 0 0 Complex_neurodevelopmental_disorder 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL3 mondo_mondo_0008329_medgen_c1449842_omim_177735_orphanet_171871_orphanet_756 Autosomal dominant pseudohypoaldosteronism type 1 MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_pseudohypoaldosteronism_type_1 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL3 human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Abnormal cardiovascular system morphology Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cardiovascular_system_morphology 105 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CUL2 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 1 low_record_burden_interpretation_limited low_record_burden_gene CUBN human_phenotype_ontology_hp_0000093_mondo_mondo_0003634_medgen_c0033687 Proteinuria Human_Phenotype_Ontology:HP:0000093,MONDO:MONDO:0003634,MedGen:C0033687 1 1 1.0000 condition_record_support_limited 20 0 1 Proteinuria 206 large_gene_or_donor_burden_stress_case donor_burden_stress CUBN human_phenotype_ontology_hp_0000106_human_phenotype_ontology_hp_0001918_human_phenotype_ontology_hp_0008671_human_phenotype_ontology_hp_0012622_mondo_mondo_0005300_medgen_c1561643 Chronic kidney disease Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643 1 1 1.0000 condition_record_support_limited 20 0 1 Chronic_kidney_disease 206 large_gene_or_donor_burden_stress_case donor_burden_stress CUBN mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 206 large_gene_or_donor_burden_stress_case donor_burden_stress CTU2 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 8 low_record_burden_interpretation_limited low_record_burden_gene CTU2 ctu2_related_disorder CTU2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CTU2-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene CTSK human_phenotype_ontology_hp_0002943_human_phenotype_ontology_hp_0004615_medgen_c1857790 Thoracic scoliosis Human_Phenotype_Ontology:HP:0002943,Human_Phenotype_Ontology:HP:0004615,MedGen:C1857790 1 1 1.0000 condition_record_support_limited 20 0 1 Thoracic_scoliosis 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSK human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Skeletal dysplasia Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 1 1 1.0000 condition_record_support_limited 20 0 1 Skeletal_dysplasia 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSK human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSK human_phenotype_ontology_hp_0001168_human_phenotype_ontology_hp_0005771_human_phenotype_ontology_hp_0006087_human_phenotype_ontology_hp_0006126_human_phenotype_ontology_hp_0009803_medgen_c0877165 Short phalanx of finger Human_Phenotype_Ontology:HP:0001168,Human_Phenotype_Ontology:HP:0005771,Human_Phenotype_Ontology:HP:0006087,Human_Phenotype_Ontology:HP:0006126,Human_Phenotype_Ontology:HP:0009803,MedGen:C0877165 1 1 1.0000 condition_record_support_limited 20 0 1 Short_phalanx_of_finger 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSK human_phenotype_ontology_hp_0004098_human_phenotype_ontology_hp_0006015_human_phenotype_ontology_hp_0009381_medgen_c1844548 Short finger Human_Phenotype_Ontology:HP:0004098,Human_Phenotype_Ontology:HP:0006015,Human_Phenotype_Ontology:HP:0009381,MedGen:C1844548 1 1 1.0000 condition_record_support_limited 20 0 1 Short_finger 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSK human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 1.0000 condition_record_support_limited 20 0 1 Scoliosis 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSK human_phenotype_ontology_hp_0000165_human_phenotype_ontology_hp_0000704_human_phenotype_ontology_hp_0006301_mondo_mondo_0005076_medgen_c0031099 Periodontitis Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099 1 1 1.0000 condition_record_support_limited 20 0 1 Periodontitis 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSK human_phenotype_ontology_hp_0005446_medgen_c4038738 Obtuse angle of mandible Human_Phenotype_Ontology:HP:0005446,MedGen:C4038738 1 1 1.0000 condition_record_support_limited 20 0 1 Obtuse_angle_of_mandible 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSK human_phenotype_ontology_hp_0001793_human_phenotype_ontology_hp_0001794_human_phenotype_ontology_hp_0001797_human_phenotype_ontology_hp_0002164_human_phenotype_ontology_hp_0008387_human_phenotype_ontology_hp_0008403_human_phenotype_ontology_hp_0008409_human_phenotype_ontology_hp_0008412_medgen_c1834405 Nail dysplasia Human_Phenotype_Ontology:HP:0001793,Human_Phenotype_Ontology:HP:0001794,Human_Phenotype_Ontology:HP:0001797,Human_Phenotype_Ontology:HP:0002164,Human_Phenotype_Ontology:HP:0008387,Human_Phenotype_Ontology:HP:0008403,Human_Phenotype_Ontology:HP:0008409,Human_Phenotype_Ontology:HP:0008412,MedGen:C1834405 1 1 1.0000 condition_record_support_limited 20 0 1 Nail_dysplasia 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSK human_phenotype_ontology_hp_0011800_human_phenotype_ontology_hp_0040199_medgen_c1853242 Midface retrusion Human_Phenotype_Ontology:HP:0011800,Human_Phenotype_Ontology:HP:0040199,MedGen:C1853242 1 1 1.0000 condition_record_support_limited 20 0 1 Midface_retrusion 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSK human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSK human_phenotype_ontology_hp_0002659_human_phenotype_ontology_hp_0002662_human_phenotype_ontology_hp_0002798_human_phenotype_ontology_hp_0005710_human_phenotype_ontology_hp_0005783_human_phenotype_ontology_hp_0005931_medgen_c1390474 Increased susceptibility to fractures Human_Phenotype_Ontology:HP:0002659,Human_Phenotype_Ontology:HP:0002662,Human_Phenotype_Ontology:HP:0002798,Human_Phenotype_Ontology:HP:0005710,Human_Phenotype_Ontology:HP:0005783,Human_Phenotype_Ontology:HP:0005931,MedGen:C1390474 1 1 1.0000 condition_record_support_limited 20 0 1 Increased_susceptibility_to_fractures 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSK mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSK human_phenotype_ontology_hp_0000671_human_phenotype_ontology_hp_0001565_human_phenotype_ontology_hp_0003770_human_phenotype_ontology_hp_0006297_mondo_mondo_0004038_medgen_c0011351 Enamel hypoplasia Human_Phenotype_Ontology:HP:0000671,Human_Phenotype_Ontology:HP:0001565,Human_Phenotype_Ontology:HP:0003770,Human_Phenotype_Ontology:HP:0006297,MONDO:MONDO:0004038,MedGen:C0011351 1 1 1.0000 condition_record_support_limited 20 0 1 Enamel_hypoplasia 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSK human_phenotype_ontology_hp_0000678_medgen_c0040433 Dental crowding Human_Phenotype_Ontology:HP:0000678,MedGen:C0040433 1 1 1.0000 condition_record_support_limited 20 0 1 Dental_crowding 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSK human_phenotype_ontology_hp_0000270_human_phenotype_ontology_hp_0002704_human_phenotype_ontology_hp_0003794_medgen_c0277828 Delayed cranial suture closure Human_Phenotype_Ontology:HP:0000270,Human_Phenotype_Ontology:HP:0002704,Human_Phenotype_Ontology:HP:0003794,MedGen:C0277828 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_cranial_suture_closure 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSK human_phenotype_ontology_hp_0001476_medgen_c3840083 Delayed closure of the anterior fontanelle Human_Phenotype_Ontology:HP:0001476,MedGen:C3840083 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_closure_of_the_anterior_fontanelle 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSK human_phenotype_ontology_hp_0000924_medgen_c4021790 Abnormality of the skeletal system Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_skeletal_system 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSK human_phenotype_ontology_hp_0000929_medgen_c0235942 Abnormal skull morphology Human_Phenotype_Ontology:HP:0000929,MedGen:C0235942 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_skull_morphology 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSK human_phenotype_ontology_hp_0000235_medgen_c4025876 Abnormal cranial suture/fontanelle morphology Human_Phenotype_Ontology:HP:0000235,MedGen:C4025876 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cranial_suture/fontanelle_morphology 133 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSF mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSF ctsf_related_disorder CTSF-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CTSF-related_disorder 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSD severe_microlissencephaly Severe microlissencephaly . 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_microlissencephaly 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSD mondo_mondo_0011778_medgen_c1846722_omim_607131_orphanet_166024 Multiple epiphyseal dysplasia, Al-Gazali type MONDO:MONDO:0011778,MedGen:C1846722,OMIM:607131,Orphanet:166024 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_epiphyseal_dysplasia,_Al-Gazali_type 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSD human_phenotype_ontology_hp_0002267_medgen_c1740801 Exaggerated startle response Human_Phenotype_Ontology:HP:0002267,MedGen:C1740801 1 1 1.0000 condition_record_support_limited 20 0 1 Exaggerated_startle_response 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSA human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 1.0000 condition_record_support_limited 20 0 1 Non-immune_hydrops_fetalis 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSA mondo_mondo_0007356_medgen_c2936783_omim_120435_orphanet_144 Lynch syndrome 1 MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144 1 1 1.0000 condition_record_support_limited 20 0 0 Lynch_syndrome_1 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSA medgen_c4017294 GALACTOSIALIDOSIS, EARLY INFANTILE MedGen:C4017294 1 1 1.0000 condition_record_support_limited 20 0 0 GALACTOSIALIDOSIS,_EARLY_INFANTILE 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSA medgen_c4017293 GALACTOSIALIDOSIS, ADULT MedGen:C4017293 1 1 1.0000 condition_record_support_limited 20 0 1 GALACTOSIALIDOSIS,_ADULT 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTSA human_phenotype_ontology_hp_0001197_medgen_c4025797 Abnormality of prenatal development or birth Human_Phenotype_Ontology:HP:0001197,MedGen:C4025797 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_prenatal_development_or_birth 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTRC medgen_c1969419 Pancreatitis, chronic, susceptibility to MedGen:C1969419 1 1 1.0000 condition_record_support_limited 20 0 1 Pancreatitis,_chronic,_susceptibility_to 17 low_record_burden_interpretation_limited low_record_burden_gene CTRC human_phenotype_ontology_hp_0006280_mondo_mondo_0005003_medgen_c0149521 Chronic pancreatitis Human_Phenotype_Ontology:HP:0006280,MONDO:MONDO:0005003,MedGen:C0149521 1 1 1.0000 condition_record_support_limited 20 0 0 Chronic_pancreatitis 17 low_record_burden_interpretation_limited low_record_burden_gene CTR9 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene CTPS1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene CTPS1 mondo_mondo_0014391_medgen_c4014617_omim_615897_orphanet_420573 Combined immunodeficiency due to CTPS1 deficiency MONDO:MONDO:0014391,MedGen:C4014617,OMIM:615897,Orphanet:420573 1 1 1.0000 condition_record_support_limited 20 0 1 Combined_immunodeficiency_due_to_CTPS1_deficiency 1 low_record_burden_interpretation_limited low_record_burden_gene CTNS human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 1.0000 condition_record_support_limited 20 0 1 Nephrotic_syndrome 195 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNND1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 human_phenotype_ontology_hp_0009792_mondo_mondo_0002601_medgen_c0039538 Teratoma Human_Phenotype_Ontology:HP:0009792,MONDO:MONDO:0002601,MedGen:C0039538 1 1 1.0000 condition_record_support_limited 20 0 1 Teratoma 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Prostate cancer Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 1 1 1.0000 condition_record_support_limited 20 0 1 Prostate_cancer 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 1 Ovarian_cancer 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 mondo_mondo_0014031_medgen_c3554439_omim_615071_orphanet_319671 Microcephalic primordial dwarfism, Alazami type MONDO:MONDO:0014031,MedGen:C3554439,OMIM:615071,Orphanet:319671 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephalic_primordial_dwarfism,_Alazami_type 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 human_phenotype_ontology_hp_0001550_human_phenotype_ontology_hp_0002023_mondo_mondo_0001046_medgen_c0003466_omim_207500_omim_301800_orphanet_557 Imperforate anus Human_Phenotype_Ontology:HP:0001550,Human_Phenotype_Ontology:HP:0002023,MONDO:MONDO:0001046,MedGen:C0003466,OMIM:207500,OMIM:301800,Orphanet:557 1 1 1.0000 condition_record_support_limited 20 0 1 Imperforate_anus 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 mondo_mondo_0005411_medgen_c0153452 Gallbladder cancer MONDO:MONDO:0005411,MedGen:C0153452 1 1 1.0000 condition_record_support_limited 20 0 1 Gallbladder_cancer 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_disorder 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 mondo_mondo_0100168_medgen_c2675440 Desmoid tumor caused by somatic mutation MONDO:MONDO:0100168,MedGen:C2675440 1 1 1.0000 condition_record_support_limited 20 0 1 Desmoid_tumor_caused_by_somatic_mutation 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 human_phenotype_ontology_hp_6001034_mondo_mondo_0007608_medgen_c0079218_orphanet_873 Desmoid tumor Human_Phenotype_Ontology:HP:6001034,MONDO:MONDO:0007608,MedGen:C0079218,Orphanet:873 1 1 1.0000 condition_record_support_limited 20 0 1 Desmoid_tumor 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 human_phenotype_ontology_hp_0100024_medgen_c4021029 Conspicuously happy disposition Human_Phenotype_Ontology:HP:0100024,MedGen:C4021029 1 1 1.0000 condition_record_support_limited 20 0 1 Conspicuously_happy_disposition 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 ctnnb1_related_syndromic_intellectual_disability CTNNB1-related syndromic intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 0 CTNNB1-related_syndromic_intellectual_disability 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Autosomal dominant polycystic liver disease Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_polycystic_liver_disease 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 mondo_mondo_0006096_medgen_c0349579 Atypical endometrial hyperplasia MONDO:MONDO:0006096,MedGen:C0349579 1 1 1.0000 condition_record_support_limited 20 0 1 Atypical_endometrial_hyperplasia 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 human_phenotype_ontology_hp_0100641_mondo_mondo_0036591_medgen_c0001618 Adrenal cortex neoplasm Human_Phenotype_Ontology:HP:0100641,MONDO:MONDO:0036591,MedGen:C0001618 1 1 1.0000 condition_record_support_limited 20 0 1 Adrenal_cortex_neoplasm 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Absent speech Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 1.0000 condition_record_support_limited 20 0 1 Absent_speech 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNB1 abnormal_lung_growth_pulmonary_hypertension_microcephaly_and_spasticity Abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity . 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_lung_growth,_pulmonary_hypertension,_microcephaly,_and_spasticity 246 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNA3 mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 1 1 1.0000 condition_record_support_limited 20 0 0 Malignant_tumor_of_urinary_bladder 5 low_record_burden_interpretation_limited low_record_burden_gene CTNNA3 mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 1.0000 condition_record_support_limited 20 0 0 Long_QT_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene CTNNA3 mondo_mondo_0016587_mesh_d019571_medgen_c0349788_orphanet_247 Arrhythmogenic right ventricular cardiomyopathy MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247 1 1 1.0000 condition_record_support_limited 20 0 1 Arrhythmogenic_right_ventricular_cardiomyopathy 5 low_record_burden_interpretation_limited low_record_burden_gene CTNNA2 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_breast_ovarian_cancer_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene CTNNA2 ctnna2_related_disorder CTNNA2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CTNNA2-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene CTNNA1 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_breast_ovarian_cancer_syndrome 233 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNA1 human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 1.0000 condition_record_support_limited 20 0 0 Craniosynostosis_syndrome 233 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNA1 mondo_mondo_0100256_medgen_cn324029 CTNNA1-related diffuse gastric and lobular breast cancer syndrome MONDO:MONDO:0100256,MedGen:CN324029 1 1 1.0000 condition_record_support_limited 20 0 1 CTNNA1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome 233 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTNNA1 ctnna1_associated_fevr CTNNA1-associated FEVR . 1 1 1.0000 condition_record_support_limited 20 0 1 CTNNA1-associated_FEVR 233 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTLA4 mondo_mondo_0011864_medgen_c3149378_omim_607594_orphanet_1572_orphanet_695183 Immunodeficiency, common variable, 1 MONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594,Orphanet:1572,Orphanet:695183 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency,_common_variable,_1 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTLA4 ctla4_haploinsufficiency CTLA4 Haploinsufficiency . 1 1 1.0000 condition_record_support_limited 20 0 0 CTLA4_Haploinsufficiency 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTHRC1 medgen_c3277074 BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA MedGen:C3277074 1 1 1.0000 condition_record_support_limited 20 0 0 BARRETT_ESOPHAGUS/ESOPHAGEAL_ADENOCARCINOMA 1 low_record_burden_interpretation_limited low_record_burden_gene CTH condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene CTDP1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene CTDP1 mondo_mondo_0011402_medgen_c1858726_omim_604168_orphanet_48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:MONDO:0011402,MedGen:C1858726,OMIM:604168,Orphanet:48431 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cataracts-facial_dysmorphism-neuropathy_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene CTDP1 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease 1 low_record_burden_interpretation_limited low_record_burden_gene CTCF mondo_mondo_0016711_medgen_c0751291_orphanet_251863 Desmoplastic/nodular medulloblastoma MONDO:MONDO:0016711,MedGen:C0751291,Orphanet:251863 1 1 1.0000 condition_record_support_limited 20 0 1 Desmoplastic/nodular_medulloblastoma 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTCF ctcf_related_syndromic_intellectual_disability CTCF-related syndromic intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 1 CTCF-related_syndromic_intellectual_disability 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CTBP1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene CTBP1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 2 low_record_burden_interpretation_limited low_record_burden_gene CTBP1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 2 low_record_burden_interpretation_limited low_record_burden_gene CTBP1 mondo_mondo_0060666_medgen_c4693578_omim_617915 Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome MONDO:MONDO:0060666,MedGen:C4693578,OMIM:617915 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia,_ataxia,_developmental_delay,_and_tooth_enamel_defect_syndrome 2 low_record_burden_interpretation_limited low_record_burden_gene CT55 mondo_mondo_0957202_medgen_c5829567_omim_301106 Spermatogenic failure, X-linked, 7 MONDO:MONDO:0957202,MedGen:C5829567,OMIM:301106 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure,_X-linked,_7 1 low_record_burden_interpretation_limited low_record_burden_gene CSTF2 mondo_mondo_0958200_medgen_c5882666_omim_301116 Intellectual developmental disorder, X-linked 113 MONDO:MONDO:0958200,MedGen:C5882666,OMIM:301116 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder,_X-linked_113 1 low_record_burden_interpretation_limited low_record_burden_gene CSTB human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 20 compact_adjacent_exon_block_opportunity local_compact_architecture CSTB human_phenotype_ontology_hp_0011344_medgen_c1837397 Severe global developmental delay Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_global_developmental_delay 20 compact_adjacent_exon_block_opportunity local_compact_architecture CSTB mondo_mondo_0007295_medgen_c0376532_orphanet_1945 Self-limited epilepsy with centrotemporal spikes MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945 1 1 1.0000 condition_record_support_limited 20 0 1 Self-limited_epilepsy_with_centrotemporal_spikes 20 compact_adjacent_exon_block_opportunity local_compact_architecture CSTB human_phenotype_ontology_hp_0000253_medgen_c1850456 Progressive microcephaly Human_Phenotype_Ontology:HP:0000253,MedGen:C1850456 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_microcephaly 20 compact_adjacent_exon_block_opportunity local_compact_architecture CSTB human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Motor delay Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 1.0000 condition_record_support_limited 20 0 1 Motor_delay 20 compact_adjacent_exon_block_opportunity local_compact_architecture CSTB human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 20 compact_adjacent_exon_block_opportunity local_compact_architecture CSTB human_phenotype_ontology_hp_0002283_human_phenotype_ontology_hp_0002369_human_phenotype_ontology_hp_0002462_medgen_c0241816 Global brain atrophy Human_Phenotype_Ontology:HP:0002283,Human_Phenotype_Ontology:HP:0002369,Human_Phenotype_Ontology:HP:0002462,MedGen:C0241816 1 1 1.0000 condition_record_support_limited 20 0 1 Global_brain_atrophy 20 compact_adjacent_exon_block_opportunity local_compact_architecture CSTB human_phenotype_ontology_hp_0001298_medgen_c0085584 Encephalopathy Human_Phenotype_Ontology:HP:0001298,MedGen:C0085584 1 1 1.0000 condition_record_support_limited 20 0 1 Encephalopathy 20 compact_adjacent_exon_block_opportunity local_compact_architecture CSTB human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 1.0000 condition_record_support_limited 20 0 1 Dystonic_disorder 20 compact_adjacent_exon_block_opportunity local_compact_architecture CSTB human_phenotype_ontology_hp_0002072_human_phenotype_ontology_hp_0002397_mondo_mondo_0001595_medgen_c0008489_orphanet_1429 Chorea Human_Phenotype_Ontology:HP:0002072,Human_Phenotype_Ontology:HP:0002397,MONDO:MONDO:0001595,MedGen:C0008489,Orphanet:1429 1 1 1.0000 condition_record_support_limited 20 0 1 Chorea 20 compact_adjacent_exon_block_opportunity local_compact_architecture CSTB human_phenotype_ontology_hp_0007134_human_phenotype_ontology_hp_0007217_human_phenotype_ontology_hp_0007266_medgen_c1854885 Cerebral dysmyelination Human_Phenotype_Ontology:HP:0007134,Human_Phenotype_Ontology:HP:0007217,Human_Phenotype_Ontology:HP:0007266,MedGen:C1854885 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_dysmyelination 20 compact_adjacent_exon_block_opportunity local_compact_architecture CSTB human_phenotype_ontology_hp_0007003_human_phenotype_ontology_hp_0007060_human_phenotype_ontology_hp_0007061_human_phenotype_ontology_hp_0007137_human_phenotype_ontology_hp_0007370_medgen_c1861866 Aplasia/Hypoplasia of the corpus callosum Human_Phenotype_Ontology:HP:0007003,Human_Phenotype_Ontology:HP:0007060,Human_Phenotype_Ontology:HP:0007061,Human_Phenotype_Ontology:HP:0007137,Human_Phenotype_Ontology:HP:0007370,MedGen:C1861866 1 1 1.0000 condition_record_support_limited 20 0 1 Aplasia/Hypoplasia_of_the_corpus_callosum 20 compact_adjacent_exon_block_opportunity local_compact_architecture CSTA csta_related_disorder CSTA-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CSTA-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene CST6 mondo_mondo_0032804_medgen_c5193145_omim_618535 Ectodermal dysplasia 15, hypohidrotic/hair type MONDO:MONDO:0032804,MedGen:C5193145,OMIM:618535 1 1 1.0000 condition_record_support_limited 20 0 0 Ectodermal_dysplasia_15,_hypohidrotic/hair_type 1 low_record_burden_interpretation_limited low_record_burden_gene CST3 mondo_mondo_0007098_medgen_c1527338_omim_105150_orphanet_100008_orphanet_85458 Hereditary cerebral amyloid angiopathy, Icelandic type MONDO:MONDO:0007098,MedGen:C1527338,OMIM:105150,Orphanet:100008,Orphanet:85458 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_cerebral_amyloid_angiopathy,_Icelandic_type 1 low_record_burden_interpretation_limited low_record_burden_gene CSRP3 mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 Primary familial hypertrophic cardiomyopathy MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_familial_hypertrophic_cardiomyopathy 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSRP3 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 1.0000 condition_record_support_limited 20 0 0 Hypertrophic_cardiomyopathy 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSPP1 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 1 1 1.0000 condition_record_support_limited 20 0 1 Joubert_syndrome 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSPP1 human_phenotype_ontology_hp_0001305_human_phenotype_ontology_hp_0001313_human_phenotype_ontology_hp_0006809_medgen_c2931867 Dandy-Walker malformation Human_Phenotype_Ontology:HP:0001305,Human_Phenotype_Ontology:HP:0001313,Human_Phenotype_Ontology:HP:0006809,MedGen:C2931867 1 1 1.0000 condition_record_support_limited 20 0 0 Dandy-Walker_malformation 117 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B human_phenotype_ontology_hp_0000430_human_phenotype_ontology_hp_0004497_human_phenotype_ontology_hp_0004507_human_phenotype_ontology_hp_0005276_human_phenotype_ontology_hp_0005277_human_phenotype_ontology_hp_0005286_medgen_c1834055 Underdeveloped nasal alae Human_Phenotype_Ontology:HP:0000430,Human_Phenotype_Ontology:HP:0004497,Human_Phenotype_Ontology:HP:0004507,Human_Phenotype_Ontology:HP:0005276,Human_Phenotype_Ontology:HP:0005277,Human_Phenotype_Ontology:HP:0005286,MedGen:C1834055 1 1 1.0000 condition_record_support_limited 20 0 1 Underdeveloped_nasal_alae 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B human_phenotype_ontology_hp_0001863_medgen_c4021770 Toe clinodactyly Human_Phenotype_Ontology:HP:0001863,MedGen:C4021770 1 1 1.0000 condition_record_support_limited 20 0 1 Toe_clinodactyly 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B human_phenotype_ontology_hp_0000219_human_phenotype_ontology_hp_0200062_human_phenotype_ontology_hp_0200086_medgen_c1865017 Thin upper lip vermilion Human_Phenotype_Ontology:HP:0000219,Human_Phenotype_Ontology:HP:0200062,Human_Phenotype_Ontology:HP:0200086,MedGen:C1865017 1 1 1.0000 condition_record_support_limited 20 0 1 Thin_upper_lip_vermilion 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B human_phenotype_ontology_hp_0001182_human_phenotype_ontology_hp_0005795_human_phenotype_ontology_hp_0005800_human_phenotype_ontology_hp_0006032_human_phenotype_ontology_hp_0006080_human_phenotype_ontology_hp_0006098_human_phenotype_ontology_hp_0006111_human_phenotype_ontology_hp_0006125_human_phenotype_ontology_hp_0006244_human_phenotype_ontology_hp_0007532_medgen_c0426886 Tapered finger Human_Phenotype_Ontology:HP:0001182,Human_Phenotype_Ontology:HP:0005795,Human_Phenotype_Ontology:HP:0005800,Human_Phenotype_Ontology:HP:0006032,Human_Phenotype_Ontology:HP:0006080,Human_Phenotype_Ontology:HP:0006098,Human_Phenotype_Ontology:HP:0006111,Human_Phenotype_Ontology:HP:0006125,Human_Phenotype_Ontology:HP:0006244,Human_Phenotype_Ontology:HP:0007532,MedGen:C0426886 1 1 1.0000 condition_record_support_limited 20 0 1 Tapered_finger 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B human_phenotype_ontology_hp_0001159_human_phenotype_ontology_hp_0001206_human_phenotype_ontology_hp_0001236_mondo_mondo_0021002_medgen_c0039075 Syndactyly Human_Phenotype_Ontology:HP:0001159,Human_Phenotype_Ontology:HP:0001206,Human_Phenotype_Ontology:HP:0001236,MONDO:MONDO:0021002,MedGen:C0039075 1 1 1.0000 condition_record_support_limited 20 0 1 Syndactyly 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B human_phenotype_ontology_hp_0000307_human_phenotype_ontology_hp_0005330_medgen_c1844505 Pointed chin Human_Phenotype_Ontology:HP:0000307,Human_Phenotype_Ontology:HP:0005330,MedGen:C1844505 1 1 1.0000 condition_record_support_limited 20 0 1 Pointed_chin 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B human_phenotype_ontology_hp_0000251_human_phenotype_ontology_hp_0000279_human_phenotype_ontology_hp_0000303_human_phenotype_ontology_hp_0000328_human_phenotype_ontology_hp_0002051_human_phenotype_ontology_hp_0004648_human_phenotype_ontology_hp_0004656_human_phenotype_ontology_hp_0008514_mondo_mondo_0008312_mesh_d008313_medgen_c0399526_omim_176700_orphanet_2964 Mandibular prognathia Human_Phenotype_Ontology:HP:0000251,Human_Phenotype_Ontology:HP:0000279,Human_Phenotype_Ontology:HP:0000303,Human_Phenotype_Ontology:HP:0000328,Human_Phenotype_Ontology:HP:0002051,Human_Phenotype_Ontology:HP:0004648,Human_Phenotype_Ontology:HP:0004656,Human_Phenotype_Ontology:HP:0008514,MONDO:MONDO:0008312,MeSH:D008313,MedGen:C0399526,OMIM:176700,Orphanet:2964 1 1 1.0000 condition_record_support_limited 20 0 1 Mandibular_prognathia 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B intellectual_disability_craniodigital_syndrome Intellectual disability-craniodigital syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability-craniodigital_syndrome 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B intellectual_disability_and_seizures Intellectual disability and seizures MedGen:CN231403 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability_and_seizures 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B medgen_c0424605 Developmental delay MedGen:C0424605 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_delay 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B human_phenotype_ontology_hp_0000490_human_phenotype_ontology_hp_0000663_mondo_mondo_0001210_medgen_c0423224 Deeply set eye Human_Phenotype_Ontology:HP:0000490,Human_Phenotype_Ontology:HP:0000663,MONDO:MONDO:0001210,MedGen:C0423224 1 1 1.0000 condition_record_support_limited 20 0 1 Deeply_set_eye 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B csnk2b_related_intellectual_disability_with_or_without_epilepsy CSNK2B-related intellectual disability with or without epilepsy . 1 1 1.0000 condition_record_support_limited 20 0 0 CSNK2B-related_intellectual_disability_with_or_without_epilepsy 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B mondo_mondo_0015802_medgen_c5680502_orphanet_178469 Autosomal dominant non-syndromic intellectual disability MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_non-syndromic_intellectual_disability 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B human_phenotype_ontology_hp_0010722_medgen_c1168239 Asymmetry of the ears Human_Phenotype_Ontology:HP:0010722,MedGen:C1168239 1 1 1.0000 condition_record_support_limited 20 0 1 Asymmetry_of_the_ears 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2B human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2A1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2A1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2A1 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_disorder 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK2A1 csnk2a1_related_neurodevelopmental_syndrome CSNK2A1-related neurodevelopmental syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 CSNK2A1-related_neurodevelopmental_syndrome 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSNK1G1 csnk1g1_related_developmental_disorder_with_autism_spectrum_disorder CSNK1G1-related developmental disorder with autism spectrum disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CSNK1G1-related_developmental_disorder_with_autism_spectrum_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene CSNK1E mondo_mondo_0010632_medgen_c3463992_omim_308350 Developmental and epileptic encephalopathy, 1 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_1 1 low_record_burden_interpretation_limited low_record_burden_gene CSMD1 csmd1_related_disorder CSMD1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CSMD1-related_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene CSMD1 csmd1_associated_neurodevelopmental_disorder CSMD1-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CSMD1-associated_neurodevelopmental_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene CSF3R mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_Immunodeficiency_Diseases 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSF3R mondo_mondo_0100291_medgen_c4329780 Early T cell progenitor acute lymphoblastic leukemia MONDO:MONDO:0100291,MedGen:C4329780 1 1 1.0000 condition_record_support_limited 20 0 1 Early_T_cell_progenitor_acute_lymphoblastic_leukemia 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSF3R csf3r_related_disorders CSF3R-Related Disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 CSF3R-Related_Disorders 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSF2RB mondo_mondo_0013712_medgen_c3280574_omim_614370_orphanet_264675 Surfactant metabolism dysfunction, pulmonary, 5 MONDO:MONDO:0013712,MedGen:C3280574,OMIM:614370,Orphanet:264675 1 1 1.0000 condition_record_support_limited 20 0 0 Surfactant_metabolism_dysfunction,_pulmonary,_5 1 low_record_burden_interpretation_limited low_record_burden_gene CSF1R csf1r_related_leukoencephalopathy CSF1R-related leukoencephalopathy . 1 1 1.0000 condition_record_support_limited 20 0 0 CSF1R-related_leukoencephalopathy 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CSDE1 csde1_related_neurodevelopmental_disorder CSDE1-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CSDE1-related_neurodevelopmental_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene CRYGS human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 7 low_record_burden_interpretation_limited low_record_burden_gene CRYGS human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_cataract 7 low_record_burden_interpretation_limited low_record_burden_gene CRYGD mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 17 low_record_burden_interpretation_limited low_record_burden_gene CRYGC mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRYGC medgen_c4015995 Cataract 2, Coppock-like MedGen:C4015995 1 1 1.0000 condition_record_support_limited 20 0 1 Cataract_2,_Coppock-like 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRYGB mondo_mondo_0014075_medgen_c3808800_omim_615188_orphanet_91492 Cataract 39 multiple types MONDO:MONDO:0014075,MedGen:C3808800,OMIM:615188,Orphanet:91492 1 1 1.0000 condition_record_support_limited 20 0 0 Cataract_39_multiple_types 1 low_record_burden_interpretation_limited low_record_burden_gene CRYBB3 human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Microphthalmia Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 1 1 1.0000 condition_record_support_limited 20 0 1 Microphthalmia 6 low_record_burden_interpretation_limited low_record_burden_gene CRYBB3 human_phenotype_ontology_hp_0000518_mondo_mondo_0005129_mesh_d002386_medgen_c0086543_omim_ps116200 Cataract Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200 1 1 1.0000 condition_record_support_limited 20 0 1 Cataract 6 low_record_burden_interpretation_limited low_record_burden_gene CRYBB2 crybb2_related_disorder CRYBB2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CRYBB2-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene CRYBB1 human_phenotype_ontology_hp_0011142_mondo_mondo_0011060_medgen_c1832423_omim_601371_orphanet_91492 Early-onset non-syndromic cataract Human_Phenotype_Ontology:HP:0011142,MONDO:MONDO:0011060,MedGen:C1832423,OMIM:601371,Orphanet:91492 1 1 1.0000 condition_record_support_limited 20 0 0 Early-onset_non-syndromic_cataract 14 low_record_burden_interpretation_limited low_record_burden_gene CRYBB1 human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_cataract 14 low_record_burden_interpretation_limited low_record_burden_gene CRYBB1 cataract_17 Cataract 17 . 1 1 1.0000 condition_record_support_limited 20 0 1 Cataract_17 14 low_record_burden_interpretation_limited low_record_burden_gene CRYBA4 human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_cataract 20 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture CRYBA4 cataract_17 Cataract 17 . 1 1 1.0000 condition_record_support_limited 20 0 1 Cataract_17 20 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture CRYBA1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 16 low_record_burden_interpretation_limited low_record_burden_gene CRYAB human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_cataract 18 low_record_burden_interpretation_limited low_record_burden_gene CRYAB mondo_mondo_0007270_medgen_c1861861_omim_115210_orphanet_75249 Cardiomyopathy, familial restrictive, 1 MONDO:MONDO:0007270,MedGen:C1861861,OMIM:115210,Orphanet:75249 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy,_familial_restrictive,_1 18 low_record_burden_interpretation_limited low_record_burden_gene CRYAB cryab_related_disorder CRYAB-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CRYAB-related_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene CRYAA mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene CRYAA medgen_c4015984 Cataract 9, autosomal recessive MedGen:C4015984 1 1 1.0000 condition_record_support_limited 20 0 1 Cataract_9,_autosomal_recessive 11 low_record_burden_interpretation_limited low_record_burden_gene CRYAA human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_eye 11 low_record_burden_interpretation_limited low_record_burden_gene CRX maculopathy maculopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 maculopathy 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRX mondo_mondo_0019353_medgen_c0271093_omim_ps248200_orphanet_827 Stargardt disease MONDO:MONDO:0019353,MedGen:C0271093,OMIM:PS248200,Orphanet:827 1 1 1.0000 condition_record_support_limited 20 0 1 Stargardt_disease 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRX human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 1.0000 condition_record_support_limited 20 0 0 Macular_dystrophy 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRX medgen_c0339525 Autosomal dominant retinitis pigmentosa MedGen:C0339525 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_retinitis_pigmentosa 140 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRPPA mondo_mondo_0013904_medgen_c3553813_omim_614830_orphanet_899 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 MONDO:MONDO:0013904,MedGen:C3553813,OMIM:614830,Orphanet:899 1 1 1.0000 condition_record_support_limited 20 0 1 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_8 57 compact_adjacent_exon_block_opportunity local_compact_architecture CRPPA mondo_mondo_0018276_medgen_c5679911_orphanet_370953 Muscular dystrophy-dystroglycanopathy MONDO:MONDO:0018276,MedGen:C5679911,Orphanet:370953 1 1 1.0000 condition_record_support_limited 20 0 0 Muscular_dystrophy-dystroglycanopathy 57 compact_adjacent_exon_block_opportunity local_compact_architecture CRPPA ispd_related_disorder ISPD-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ISPD-related_disorder 57 compact_adjacent_exon_block_opportunity local_compact_architecture CRPPA mondo_mondo_0013177_medgen_c2750786_omim_613204_orphanet_34520 Congenital muscular dystrophy due to integrin alpha-7 deficiency MONDO:MONDO:0013177,MedGen:C2750786,OMIM:613204,Orphanet:34520 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_muscular_dystrophy_due_to_integrin_alpha-7_deficiency 57 compact_adjacent_exon_block_opportunity local_compact_architecture CRPPA crppa_related_disorder CRPPA-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CRPPA-related_disorder 57 compact_adjacent_exon_block_opportunity local_compact_architecture CRMP1 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 1 low_record_burden_interpretation_limited low_record_burden_gene CRLF1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRLF1 crisponi_cold_induced_sweating_syndrome Crisponi/Cold-induced sweating syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 Crisponi/Cold-induced_sweating_syndrome 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRLF1 mondo_mondo_0012983_medgen_c2675210_omim_612657_orphanet_1872 Cone-rod dystrophy 12 MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy_12 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRLF1 crlf1_related_disorder CRLF1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CRLF1-related_disorder 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRELD1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 14 low_record_burden_interpretation_limited low_record_burden_gene CREBL2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene CREBBP human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 1.0000 condition_record_support_limited 20 0 0 Tip-toe_gait 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CREBBP human_phenotype_ontology_hp_0000213_human_phenotype_ontology_hp_0000233_medgen_c0578038 Thin vermilion border Human_Phenotype_Ontology:HP:0000213,Human_Phenotype_Ontology:HP:0000233,MedGen:C0578038 1 1 1.0000 condition_record_support_limited 20 0 1 Thin_vermilion_border 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CREBBP human_phenotype_ontology_hp_0000664_human_phenotype_ontology_hp_0002210_medgen_c0431447 Synophrys Human_Phenotype_Ontology:HP:0000664,Human_Phenotype_Ontology:HP:0002210,MedGen:C0431447 1 1 1.0000 condition_record_support_limited 20 0 1 Synophrys 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CREBBP human_phenotype_ontology_hp_0010301_medgen_c0344479 Spinal dysraphism Human_Phenotype_Ontology:HP:0010301,MedGen:C0344479 1 1 1.0000 condition_record_support_limited 20 0 1 Spinal_dysraphism 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CREBBP human_phenotype_ontology_hp_0001257_medgen_c0026838 Spasticity Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 1 1 1.0000 condition_record_support_limited 20 0 1 Spasticity 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CREBBP human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 1.0000 condition_record_support_limited 20 0 1 Scoliosis 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CREBBP mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 Noonan syndrome MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 1 1 1.0000 condition_record_support_limited 20 0 0 Noonan_syndrome 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CREBBP mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CREBBP human_phenotype_ontology_hp_0002011_human_phenotype_ontology_hp_0002405_human_phenotype_ontology_hp_0002413_human_phenotype_ontology_hp_0002481_human_phenotype_ontology_hp_0007319_mondo_mondo_0002602_medgen_c4021765 Morphological central nervous system abnormality Human_Phenotype_Ontology:HP:0002011,Human_Phenotype_Ontology:HP:0002405,Human_Phenotype_Ontology:HP:0002413,Human_Phenotype_Ontology:HP:0002481,Human_Phenotype_Ontology:HP:0007319,MONDO:MONDO:0002602,MedGen:C4021765 1 1 1.0000 condition_record_support_limited 20 0 1 Morphological_central_nervous_system_abnormality 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CREBBP mondo_mondo_0020774_medgen_c5681632_omim_ps618332_orphanet_592574 Menke-Hennekam syndrome MONDO:MONDO:0020774,MedGen:C5681632,OMIM:PS618332,Orphanet:592574 1 1 1.0000 condition_record_support_limited 20 0 1 Menke-Hennekam_syndrome 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CREBBP mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 Malignant lymphoma, large B-cell, diffuse MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 1 1 1.0000 condition_record_support_limited 20 0 0 Malignant_lymphoma,_large_B-cell,_diffuse 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CREBBP kabuki_like_syndrome Kabuki-like syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 Kabuki-like_syndrome 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CREBBP human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CREBBP human_phenotype_ontology_hp_0000501_mondo_mondo_0005041_medgen_c0017601 Glaucoma Human_Phenotype_Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601 1 1 1.0000 condition_record_support_limited 20 0 1 Glaucoma 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CREBBP human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Corpus callosum, agenesis of Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 1.0000 condition_record_support_limited 20 0 1 Corpus_callosum,_agenesis_of 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CREBBP congenital_heart_anomalies Congenital heart anomalies . 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_heart_anomalies 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CREBBP human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 0 Cone-rod_dystrophy 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CREBBP human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CREBBP human_phenotype_ontology_hp_0002060_medgen_c4021762 Abnormal cerebral morphology Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cerebral_morphology 514 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CREB3L1 mondo_mondo_0019019_mesh_d010013_medgen_c0029434_omim_ps166200_orphanet_666 Osteogenesis imperfecta MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666 1 1 1.0000 condition_record_support_limited 20 0 1 Osteogenesis_imperfecta 15 low_record_burden_interpretation_limited low_record_burden_gene CREB3 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_paraplegia 1 low_record_burden_interpretation_limited low_record_burden_gene CREB3 mondo_mondo_0013737_medgen_c2828721_omim_614409_orphanet_320391 Hereditary spastic paraplegia 46 MONDO:MONDO:0013737,MedGen:C2828721,OMIM:614409,Orphanet:320391 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia_46 1 low_record_burden_interpretation_limited low_record_burden_gene CRBN human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 12 low_record_burden_interpretation_limited low_record_burden_gene CRB2 mondo_mondo_0019006_medgen_c4273714_orphanet_656 Familial idiopathic steroid-resistant nephrotic syndrome MONDO:MONDO:0019006,MedGen:C4273714,Orphanet:656 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_idiopathic_steroid-resistant_nephrotic_syndrome 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRB2 autosomal_recessive_crb2_related_disorders Autosomal recessive CRB2-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_CRB2-related_disorders 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRB1 mondo_mondo_0019353_medgen_c0271093_omim_ps248200_orphanet_827 Stargardt disease MONDO:MONDO:0019353,MedGen:C0271093,OMIM:PS248200,Orphanet:827 1 1 1.0000 condition_record_support_limited 20 0 1 Stargardt_disease 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRB1 mondo_mondo_0009549_mesh_d000080362_medgen_c1855465_omim_248200_orphanet_364055_orphanet_827 Severe early-childhood-onset retinal dystrophy MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_early-childhood-onset_retinal_dystrophy 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRB1 mondo_mondo_0010775_medgen_c5779620_omim_500004 Retinitis pigmentosa-deafness syndrome MONDO:MONDO:0010775,MedGen:C5779620,OMIM:500004 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa-deafness_syndrome 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRB1 mondo_mondo_0000455_medgen_c0730290_orphanet_1871 Cone dystrophy MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 1.0000 condition_record_support_limited 20 0 1 Cone_dystrophy 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRB1 autosomal_recessive_crb1_related_disorders Autosomal recessive CRB1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_CRB1-related_disorders 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRB1 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_eye 574 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CRADD human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Moderate intellectual disability Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 1 1 1.0000 condition_record_support_limited 20 0 0 Moderate_intellectual_disability 8 low_record_burden_interpretation_limited low_record_burden_gene CRADD mondo_mondo_0016342_medgen_c4274968_omim_ps107970_orphanet_217656 Familial isolated arrhythmogenic right ventricular dysplasia MONDO:MONDO:0016342,MedGen:C4274968,OMIM:PS107970,Orphanet:217656 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_isolated_arrhythmogenic_right_ventricular_dysplasia 8 low_record_burden_interpretation_limited low_record_burden_gene CR2 mondo_mondo_0009413_medgen_c3150354_omim_240500_orphanet_1572 Immunodeficiency, common variable, 2 MONDO:MONDO:0009413,MedGen:C3150354,OMIM:240500,Orphanet:1572 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency,_common_variable,_2 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CR2 autosomal_recessive_cr2_related_disorders Autosomal recessive CR2-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_CR2-related_disorders 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPZ human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene CPT2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPT2 human_phenotype_ontology_hp_0003201_medgen_c0035410 Rhabdomyolysis Human_Phenotype_Ontology:HP:0003201,MedGen:C0035410 1 1 1.0000 condition_record_support_limited 20 0 1 Rhabdomyolysis 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPT2 autosomal_recessive_cpt2_related_disorders Autosomal recessive CPT2-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_CPT2-related_disorders 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPT2 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPT2 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPT1C condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene CPT1A cpt1a_polymorphism CPT1A POLYMORPHISM . 1 1 1.0000 condition_record_support_limited 20 0 1 CPT1A_POLYMORPHISM 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPT1A cpt1a_arctic_variant CPT1A ARCTIC VARIANT . 1 1 1.0000 condition_record_support_limited 20 0 1 CPT1A_ARCTIC_VARIANT 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPSF3 mondo_mondo_0030025_medgen_c5394312_omim_618862 Neurodevelopmental disorder with hypotonia, microcephaly, and seizures MONDO:MONDO:0030025,MedGen:C5394312,OMIM:618862 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_hypotonia,_microcephaly,_and_seizures 2 low_record_burden_interpretation_limited low_record_burden_gene CPSF3 hp_0001252_hp_0001776_hp_0000252_hp_0001270_hp_0000592 HP:0001252; HP:0001776; HP:0000252; HP:0001270; HP:0000592 . 1 1 1.0000 condition_record_support_limited 20 0 0 HP:0001252%3B_HP:0001776%3B_HP:0000252%3B_HP:0001270%3B_HP:0000592 2 low_record_burden_interpretation_limited low_record_burden_gene CPS1 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_breast_ovarian_cancer_syndrome 400 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPOX medgen_c4017281 COPROPORPHYRIA, DIGENIC MedGen:C4017281 1 1 1.0000 condition_record_support_limited 20 0 0 COPROPORPHYRIA,_DIGENIC 40 compact_adjacent_exon_block_opportunity local_compact_architecture CPLX1 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_morphology 3 low_record_burden_interpretation_limited low_record_burden_gene CPLANE1 typical_joubert_syndrome_mri_findings Typical Joubert syndrome MRI findings MedGen:CN228298 1 1 1.0000 condition_record_support_limited 20 0 1 Typical_Joubert_syndrome_MRI_findings 343 large_gene_or_donor_burden_stress_case donor_burden_stress CPE mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 8 low_record_burden_interpretation_limited low_record_burden_gene CPE medgen_c4013980 Early onset severe obesity MedGen:C4013980 1 1 1.0000 condition_record_support_limited 20 0 0 Early_onset_severe_obesity 8 low_record_burden_interpretation_limited low_record_burden_gene CPE blakemore_durmaz_vasileiou_bdv_syndrome Blakemore-Durmaz-Vasileiou (BDV) syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 Blakemore-Durmaz-Vasileiou_(BDV)_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene CPAP mondo_mondo_0013443_medgen_c3151187_omim_613823_orphanet_808 Seckel syndrome 5 MONDO:MONDO:0013443,MedGen:C3151187,OMIM:613823,Orphanet:808 1 1 1.0000 condition_record_support_limited 20 0 0 Seckel_syndrome_5 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPAP human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPAP human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Lissencephaly Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 1 1 1.0000 condition_record_support_limited 20 0 1 Lissencephaly 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPAP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPAP cenpj_related_disorder CENPJ-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CENPJ-related_disorder 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPAP mondo_mondo_0016660_medgen_c3711387_omim_ps251200_orphanet_2512 Autosomal recessive primary microcephaly MONDO:MONDO:0016660,MedGen:C3711387,OMIM:PS251200,Orphanet:2512 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_primary_microcephaly 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPAP mondo_mondo_0008822_medgen_c1859722_omim_208085_orphanet_2697 Arthrogryposis, renal dysfunction, and cholestasis 1 MONDO:MONDO:0008822,MedGen:C1859722,OMIM:208085,Orphanet:2697 1 1 1.0000 condition_record_support_limited 20 0 0 Arthrogryposis,_renal_dysfunction,_and_cholestasis_1 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CPAMD8 mondo_mondo_0009277_medgen_c1856439_omim_231300_orphanet_98976_orphanet_98977 Glaucoma 3A MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977 1 1 1.0000 condition_record_support_limited 20 0 0 Glaucoma_3A 27 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CPAMD8 human_phenotype_ontology_hp_0004328_medgen_c4025355 Abnormal anterior eye segment morphology Human_Phenotype_Ontology:HP:0004328,MedGen:C4025355 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_anterior_eye_segment_morphology 27 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CPA6 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene CPA6 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 4 low_record_burden_interpretation_limited low_record_burden_gene CPA6 mondo_mondo_0024566_medgen_c3280734_omim_614418 Febrile seizures, familial, 11 MONDO:MONDO:0024566,MedGen:C3280734,OMIM:614418 1 1 1.0000 condition_record_support_limited 20 0 0 Febrile_seizures,_familial,_11 4 low_record_burden_interpretation_limited low_record_burden_gene CPA6 cpa6_related_disorder CPA6-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CPA6-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene CP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COXFA4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene COX8A mondo_mondo_0700250_medgen_c5435656_omim_220110 Mitochondrial complex IV deficiency, nuclear type 1 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_IV_deficiency,_nuclear_type_1 1 low_record_burden_interpretation_limited low_record_burden_gene COX7B condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene COX6B1 mondo_mondo_0033637_medgen_c5436685_omim_619051 Mitochondrial complex IV deficiency, nuclear type 7 MONDO:MONDO:0033637,MedGen:C5436685,OMIM:619051 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_IV_deficiency,_nuclear_type_7 2 low_record_burden_interpretation_limited low_record_burden_gene COX6A2 mondo_mondo_0033653_medgen_c5436720_omim_619062 Mitochondrial complex IV deficiency, nuclear type 18 MONDO:MONDO:0033653,MedGen:C5436720,OMIM:619062 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_IV_deficiency,_nuclear_type_18 1 low_record_burden_interpretation_limited low_record_burden_gene COX6A1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene COX6A1 mondo_mondo_0014467_medgen_c5569027_omim_616039_orphanet_435998 Charcot-Marie-Tooth disease recessive intermediate D MONDO:MONDO:0014467,MedGen:C5569027,OMIM:616039,Orphanet:435998 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease_recessive_intermediate_D 1 low_record_burden_interpretation_limited low_record_burden_gene COX4I1 mondo_mondo_0033651_medgen_c5436714_omim_619060 Mitochondrial complex IV deficiency, nuclear type 16 MONDO:MONDO:0033651,MedGen:C5436714,OMIM:619060 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_IV_deficiency,_nuclear_type_16 2 low_record_burden_interpretation_limited low_record_burden_gene COX4I1 mondo_mondo_0700250_medgen_c5435656_omim_220110 Mitochondrial complex IV deficiency, nuclear type 1 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_IV_deficiency,_nuclear_type_1 2 low_record_burden_interpretation_limited low_record_burden_gene COX20 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_disease 15 low_record_burden_interpretation_limited low_record_burden_gene COX20 mondo_mondo_0700250_medgen_c5435656_omim_220110 Mitochondrial complex IV deficiency, nuclear type 1 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_IV_deficiency,_nuclear_type_1 15 low_record_burden_interpretation_limited low_record_burden_gene COX20 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 15 low_record_burden_interpretation_limited low_record_burden_gene COX20 cox20_related_disorder COX20-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 COX20-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene COX16 mondo_mondo_0859160_medgen_c5543491_omim_619355 Mitochondrial complex IV deficiency, nuclear type 22 MONDO:MONDO:0859160,MedGen:C5543491,OMIM:619355 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_IV_deficiency,_nuclear_type_22 1 low_record_burden_interpretation_limited low_record_burden_gene COX15 cox15_related_disorder COX15-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 COX15-related_disorder 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COX14 condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene COX14 mondo_mondo_0033639_medgen_c5436692_omim_619053 Mitochondrial complex IV deficiency, nuclear type 10 MONDO:MONDO:0033639,MedGen:C5436692,OMIM:619053 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_IV_deficiency,_nuclear_type_10 2 low_record_burden_interpretation_limited low_record_burden_gene COX10 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 15 low_record_burden_interpretation_limited low_record_burden_gene CORO1A condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene CORO1A mondo_mondo_0000469_medgen_c0428908 Sinoatrial node disorder MONDO:MONDO:0000469,MedGen:C0428908 1 1 1.0000 condition_record_support_limited 20 0 0 Sinoatrial_node_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene CORO1A human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 1 1 1.0000 condition_record_support_limited 20 0 0 Severe_combined_immunodeficiency_disease 17 low_record_burden_interpretation_limited low_record_burden_gene CORIN human_phenotype_ontology_hp_0001685_medgen_c0151654 Myocardial fibrosis Human_Phenotype_Ontology:HP:0001685,MedGen:C0151654 1 1 1.0000 condition_record_support_limited 20 0 1 Myocardial_fibrosis 4 low_record_burden_interpretation_limited low_record_burden_gene CORIN human_phenotype_ontology_hp_0000822_human_phenotype_ontology_hp_0004949_human_phenotype_ontology_hp_0005126_mondo_mondo_0005044_medgen_c0020538 Hypertensive disorder Human_Phenotype_Ontology:HP:0000822,Human_Phenotype_Ontology:HP:0004949,Human_Phenotype_Ontology:HP:0005126,MONDO:MONDO:0005044,MedGen:C0020538 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertensive_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene CORIN human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy 4 low_record_burden_interpretation_limited low_record_burden_gene CORIN efo_the_experimental_factor_ontology_efo_0000275_human_phenotype_ontology_hp_0001715_human_phenotype_ontology_hp_0005110_human_phenotype_ontology_hp_0005179_mondo_mondo_0004981_medgen_c0004238 Atrial fibrillation EFO:_The_Experimental_Factor_Ontology:EFO_0000275,Human_Phenotype_Ontology:HP:0001715,Human_Phenotype_Ontology:HP:0005110,Human_Phenotype_Ontology:HP:0005179,MONDO:MONDO:0004981,MedGen:C0004238 1 1 1.0000 condition_record_support_limited 20 0 1 Atrial_fibrillation 4 low_record_burden_interpretation_limited low_record_burden_gene COQ9 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ8A human_phenotype_ontology_hp_0001350_medgen_c0234518 Slurred speech Human_Phenotype_Ontology:HP:0001350,MedGen:C0234518 1 1 1.0000 condition_record_support_limited 20 0 1 Slurred_speech 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ8A slightly_reduced_reflexes Slightly reduced reflexes . 1 1 1.0000 condition_record_support_limited 20 0 1 Slightly_reduced_reflexes 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ8A human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 1.0000 condition_record_support_limited 20 0 1 Nystagmus 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ8A human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ8A human_phenotype_ontology_hp_0001310_medgen_c0234162 Dysmetria Human_Phenotype_Ontology:HP:0001310,MedGen:C0234162 1 1 1.0000 condition_record_support_limited 20 0 1 Dysmetria 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ8A human_phenotype_ontology_hp_0002075_human_phenotype_ontology_hp_0002426_medgen_c0234979 Dysdiadochokinesis Human_Phenotype_Ontology:HP:0002075,Human_Phenotype_Ontology:HP:0002426,MedGen:C0234979 1 1 1.0000 condition_record_support_limited 20 0 1 Dysdiadochokinesis 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ8A human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Cerebellar atrophy Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_atrophy 106 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ4 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COQ2 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 1.0000 condition_record_support_limited 20 0 1 Nephrotic_syndrome 40 compact_adjacent_exon_block_opportunity local_compact_architecture COQ2 medgen_c0235820 Neonatal encephalopathy MedGen:C0235820 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_encephalopathy 40 compact_adjacent_exon_block_opportunity local_compact_architecture COQ2 mondo_mondo_0007803_medgen_c0393571_orphanet_102 Multiple system atrophy MONDO:MONDO:0007803,MedGen:C0393571,Orphanet:102 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_system_atrophy 40 compact_adjacent_exon_block_opportunity local_compact_architecture COQ2 coq2_related_disorder COQ2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 COQ2-related_disorder 40 compact_adjacent_exon_block_opportunity local_compact_architecture COPB2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 9 low_record_burden_interpretation_limited low_record_burden_gene COPB1 human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Skeletal dysplasia Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 1 1 1.0000 condition_record_support_limited 20 0 1 Skeletal_dysplasia 3 low_record_burden_interpretation_limited low_record_burden_gene COPB1 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 3 low_record_burden_interpretation_limited low_record_burden_gene COPB1 human_phenotype_ontology_hp_0002721_human_phenotype_ontology_hp_0005362_human_phenotype_ontology_hp_0005371_mondo_mondo_0021094_medgen_c0021051_omim_ps300755 Immunodeficiency Human_Phenotype_Ontology:HP:0002721,Human_Phenotype_Ontology:HP:0005362,Human_Phenotype_Ontology:HP:0005371,MONDO:MONDO:0021094,MedGen:C0021051,OMIM:PS300755 1 1 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency 3 low_record_burden_interpretation_limited low_record_burden_gene COPB1 human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive 3 low_record_burden_interpretation_limited low_record_burden_gene COPB1 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 3 low_record_burden_interpretation_limited low_record_burden_gene COMT mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 1.0000 condition_record_support_limited 20 0 0 Bardet-Biedl_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene COMP pseudoachondroplasia_severe Pseudoachondroplasia, severe . 1 1 1.0000 condition_record_support_limited 20 0 1 Pseudoachondroplasia,_severe 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COMP human_phenotype_ontology_hp_0000924_medgen_c4021790 Abnormality of the skeletal system Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_skeletal_system 170 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COLQ medgen_c0751885_orphanet_590 Slow-Channel Congenital Myasthenia Syndrome MedGen:C0751885,Orphanet:590 1 1 1.0000 condition_record_support_limited 20 0 1 Slow-Channel_Congenital_Myasthenia_Syndrome 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COLQ colq_related_disorder COLQ-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 COLQ-related_disorder 115 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COLGALT1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene COLGALT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 7 low_record_burden_interpretation_limited low_record_burden_gene COLEC11 mondo_mondo_0017398_medgen_c4303860_omim_ps257920_orphanet_293843 3MC syndrome MONDO:MONDO:0017398,MedGen:C4303860,OMIM:PS257920,Orphanet:293843 1 1 1.0000 condition_record_support_limited 20 0 0 3MC_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene COLEC10 colec10_related_disorder COLEC10-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 COLEC10-related_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene COL9A3 human_phenotype_ontology_hp_0000541_human_phenotype_ontology_hp_0007864_human_phenotype_ontology_hp_0008021_mondo_mondo_0008375_medgen_c0035305_omim_180050 Retinal detachment Human_Phenotype_Ontology:HP:0000541,Human_Phenotype_Ontology:HP:0007864,Human_Phenotype_Ontology:HP:0008021,MONDO:MONDO:0008375,MedGen:C0035305,OMIM:180050 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_detachment 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A3 human_phenotype_ontology_hp_0007992_mondo_mondo_0001455_medgen_c0154856 Lattice retinal degeneration Human_Phenotype_Ontology:HP:0007992,MONDO:MONDO:0001455,MedGen:C0154856 1 1 1.0000 condition_record_support_limited 20 0 1 Lattice_retinal_degeneration 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A3 mondo_mondo_0044339_medgen_c0158252_omim_603932 Intervertebral disc disorder MONDO:MONDO:0044339,MedGen:C0158252,OMIM:603932 1 1 1.0000 condition_record_support_limited 20 0 1 Intervertebral_disc_disorder 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A3 medgen_c3152083 Epiphyseal dysplasia, multiple, 3, with myopathy MedGen:C3152083 1 1 1.0000 condition_record_support_limited 20 0 1 Epiphyseal_dysplasia,_multiple,_3,_with_myopathy 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A3 medgen_c5439212_orphanet_250984 Autosomal recessive Stickler syndrome MedGen:C5439212,Orphanet:250984 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_Stickler_syndrome 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A2 mondo_mondo_0019354_medgen_c0265253_omim_ps108300_orphanet_828 Stickler syndrome MONDO:MONDO:0019354,MedGen:C0265253,OMIM:PS108300,Orphanet:828 1 1 1.0000 condition_record_support_limited 20 0 1 Stickler_syndrome 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A2 human_phenotype_ontology_hp_0002656_medgen_c0392476 Epiphyseal dysplasia Human_Phenotype_Ontology:HP:0002656,MedGen:C0392476 1 1 1.0000 condition_record_support_limited 20 0 0 Epiphyseal_dysplasia 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A1 mondo_mondo_0019354_medgen_c0265253_omim_ps108300_orphanet_828 Stickler syndrome MONDO:MONDO:0019354,MedGen:C0265253,OMIM:PS108300,Orphanet:828 1 1 1.0000 condition_record_support_limited 20 0 0 Stickler_syndrome 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A1 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 0 Sensorineural_hearing_loss_disorder 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL9A1 monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 0 Monogenic_hearing_loss 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A6 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene COL6A3 human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 1.0000 condition_record_support_limited 20 0 0 Tip-toe_gait 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL6A3 human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 1.0000 condition_record_support_limited 20 0 1 Myopathy 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL6A3 human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Limb-girdle muscular dystrophy Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 1.0000 condition_record_support_limited 20 0 1 Limb-girdle_muscular_dystrophy 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL6A3 mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 Congenital myopathy MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_myopathy 205 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL6A2 human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 1.0000 condition_record_support_limited 20 0 0 Tip-toe_gait 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A2 medgen_c5680804_orphanet_207090 Qualitative or quantitative defects of collagen 6 MedGen:C5680804,Orphanet:207090 1 1 1.0000 condition_record_support_limited 20 0 1 Qualitative_or_quantitative_defects_of_collagen_6 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A2 human_phenotype_ontology_hp_0003432_human_phenotype_ontology_hp_0003475_human_phenotype_ontology_hp_0003701_human_phenotype_ontology_hp_0007195_human_phenotype_ontology_hp_0008950_human_phenotype_ontology_hp_0008961_human_phenotype_ontology_hp_0008975_human_phenotype_ontology_hp_0009033_human_phenotype_ontology_hp_0009075_medgen_c0221629 Proximal muscle weakness Human_Phenotype_Ontology:HP:0003432,Human_Phenotype_Ontology:HP:0003475,Human_Phenotype_Ontology:HP:0003701,Human_Phenotype_Ontology:HP:0007195,Human_Phenotype_Ontology:HP:0008950,Human_Phenotype_Ontology:HP:0008961,Human_Phenotype_Ontology:HP:0008975,Human_Phenotype_Ontology:HP:0009033,Human_Phenotype_Ontology:HP:0009075,MedGen:C0221629 1 1 1.0000 condition_record_support_limited 20 0 1 Proximal_muscle_weakness 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A2 human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 1.0000 condition_record_support_limited 20 0 0 Myopathy 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A2 human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Muscular dystrophy Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 1 1 1.0000 condition_record_support_limited 20 0 1 Muscular_dystrophy 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A2 human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Muscle weakness Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 1 1 1.0000 condition_record_support_limited 20 0 1 Muscle_weakness 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A2 human_phenotype_ontology_hp_0003325_human_phenotype_ontology_hp_0008971_medgen_c1858127 Limb-girdle muscle weakness Human_Phenotype_Ontology:HP:0003325,Human_Phenotype_Ontology:HP:0008971,MedGen:C1858127 1 1 1.0000 condition_record_support_limited 20 0 1 Limb-girdle_muscle_weakness 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A2 human_phenotype_ontology_hp_0005639_medgen_c1856877 Hyperextensible hand joints Human_Phenotype_Ontology:HP:0005639,MedGen:C1856877 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperextensible_hand_joints 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A2 human_phenotype_ontology_hp_0012515_medgen_c3279725 Hip flexor weakness Human_Phenotype_Ontology:HP:0012515,MedGen:C3279725 1 1 1.0000 condition_record_support_limited 20 0 1 Hip_flexor_weakness 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A2 human_phenotype_ontology_hp_0012378_medgen_c0015672 Fatigue Human_Phenotype_Ontology:HP:0012378,MedGen:C0015672 1 1 1.0000 condition_record_support_limited 20 0 1 Fatigue 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A2 human_phenotype_ontology_hp_0002527_medgen_c0085639 Falls Human_Phenotype_Ontology:HP:0002527,MedGen:C0085639 1 1 1.0000 condition_record_support_limited 20 0 1 Falls 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A2 human_phenotype_ontology_hp_0002355_human_phenotype_ontology_hp_0007101_human_phenotype_ontology_hp_0009030_medgen_c0311394 Difficulty walking Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394 1 1 1.0000 condition_record_support_limited 20 0 1 Difficulty_walking 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A2 human_phenotype_ontology_hp_0001374_medgen_c0019555 Congenital hip dislocation Human_Phenotype_Ontology:HP:0001374,MedGen:C0019555 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_hip_dislocation 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A2 col6a2_related_core_myopathy COL6A2-related core myopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 COL6A2-related_core_myopathy 262 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A1 human_phenotype_ontology_hp_0007055_human_phenotype_ontology_hp_0007141_human_phenotype_ontology_hp_0007237_medgen_c1112256 Sensorimotor neuropathy Human_Phenotype_Ontology:HP:0007055,Human_Phenotype_Ontology:HP:0007141,Human_Phenotype_Ontology:HP:0007237,MedGen:C1112256 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorimotor_neuropathy 194 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A1 human_phenotype_ontology_hp_0003432_human_phenotype_ontology_hp_0003475_human_phenotype_ontology_hp_0003701_human_phenotype_ontology_hp_0007195_human_phenotype_ontology_hp_0008950_human_phenotype_ontology_hp_0008961_human_phenotype_ontology_hp_0008975_human_phenotype_ontology_hp_0009033_human_phenotype_ontology_hp_0009075_medgen_c0221629 Proximal muscle weakness Human_Phenotype_Ontology:HP:0003432,Human_Phenotype_Ontology:HP:0003475,Human_Phenotype_Ontology:HP:0003701,Human_Phenotype_Ontology:HP:0007195,Human_Phenotype_Ontology:HP:0008950,Human_Phenotype_Ontology:HP:0008961,Human_Phenotype_Ontology:HP:0008975,Human_Phenotype_Ontology:HP:0009033,Human_Phenotype_Ontology:HP:0009075,MedGen:C0221629 1 1 1.0000 condition_record_support_limited 20 0 0 Proximal_muscle_weakness 194 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A1 other_rare_neuromuscular_disorders Other rare neuromuscular disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Other_rare_neuromuscular_disorders 194 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A1 human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 1.0000 condition_record_support_limited 20 0 1 Myopathy 194 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL6A1 mondo_mondo_0958233_medgen_c5935580_omim_620725 Bethlem myopathy 1B MONDO:MONDO:0958233,MedGen:C5935580,OMIM:620725 1 1 1.0000 condition_record_support_limited 20 0 1 Bethlem_myopathy_1B 194 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL5A2 human_phenotype_ontology_hp_0000506_mondo_mondo_0008537_medgen_c0423113_omim_187350_orphanet_98575 Telecanthus Human_Phenotype_Ontology:HP:0000506,MONDO:MONDO:0008537,MedGen:C0423113,OMIM:187350,Orphanet:98575 1 1 1.0000 condition_record_support_limited 20 0 1 Telecanthus 62 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A2 human_phenotype_ontology_hp_0008443_medgen_c5702564 Neuropathic spinal arthropathy Human_Phenotype_Ontology:HP:0008443,MedGen:C5702564 1 1 1.0000 condition_record_support_limited 20 0 1 Neuropathic_spinal_arthropathy 62 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A2 human_phenotype_ontology_hp_0000563_mondo_mondo_0015486_mesh_d007640_medgen_c0022578_omim_ps148300 Keratoconus Human_Phenotype_Ontology:HP:0000563,MONDO:MONDO:0015486,MeSH:D007640,MedGen:C0022578,OMIM:PS148300 1 1 1.0000 condition_record_support_limited 20 0 0 Keratoconus 62 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A2 human_phenotype_ontology_hp_0001378_human_phenotype_ontology_hp_0001382_human_phenotype_ontology_hp_0005034_medgen_c1844820 Joint hypermobility Human_Phenotype_Ontology:HP:0001378,Human_Phenotype_Ontology:HP:0001382,Human_Phenotype_Ontology:HP:0005034,MedGen:C1844820 1 1 1.0000 condition_record_support_limited 20 0 1 Joint_hypermobility 62 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A2 human_phenotype_ontology_hp_0000974_human_phenotype_ontology_hp_0007389_human_phenotype_ontology_hp_0007493_human_phenotype_ontology_hp_0007578_medgen_c0241074 Hyperextensible skin Human_Phenotype_Ontology:HP:0000974,Human_Phenotype_Ontology:HP:0007389,Human_Phenotype_Ontology:HP:0007493,Human_Phenotype_Ontology:HP:0007578,MedGen:C0241074 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperextensible_skin 62 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A2 mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 Ehlers-Danlos syndrome MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 1 1 1.0000 condition_record_support_limited 20 0 0 Ehlers-Danlos_syndrome 62 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 thoracic_aortic_aneurysm_or_dissection Thoracic aortic aneurysm or dissection . 1 1 1.0000 condition_record_support_limited 20 0 1 Thoracic_aortic_aneurysm_or_dissection 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0002107_mondo_mondo_0002076_medgen_c0032326 Pneumothorax Human_Phenotype_Ontology:HP:0002107,MONDO:MONDO:0002076,MedGen:C0032326 1 1 1.0000 condition_record_support_limited 20 0 1 Pneumothorax 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0002999_medgen_c1135812 Patellar dislocation Human_Phenotype_Ontology:HP:0002999,MedGen:C1135812 1 1 1.0000 condition_record_support_limited 20 0 1 Patellar_dislocation 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0012531_medgen_c0030193 Pain Human_Phenotype_Ontology:HP:0012531,MedGen:C0030193 1 1 1.0000 condition_record_support_limited 20 0 1 Pain 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0001634_mondo_mondo_0004910_medgen_c0026267 Mitral valve prolapse Human_Phenotype_Ontology:HP:0001634,MONDO:MONDO:0004910,MedGen:C0026267 1 1 1.0000 condition_record_support_limited 20 0 1 Mitral_valve_prolapse 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0005008_medgen_c4025260 Large joint dislocations Human_Phenotype_Ontology:HP:0005008,MedGen:C4025260 1 1 1.0000 condition_record_support_limited 20 0 1 Large_joint_dislocations 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0005692_medgen_c1862377 Joint hyperflexibility Human_Phenotype_Ontology:HP:0005692,MedGen:C1862377 1 1 1.0000 condition_record_support_limited 20 0 1 Joint_hyperflexibility 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0000023_medgen_c0019294 Inguinal hernia Human_Phenotype_Ontology:HP:0000023,MedGen:C0019294 1 1 1.0000 condition_record_support_limited 20 0 1 Inguinal_hernia 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0002020_human_phenotype_ontology_hp_0004793_medgen_c4317146 Gastroesophageal reflux Human_Phenotype_Ontology:HP:0002020,Human_Phenotype_Ontology:HP:0004793,MedGen:C4317146 1 1 1.0000 condition_record_support_limited 20 0 1 Gastroesophageal_reflux 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0012098_medgen_c2919341 Edema of the dorsum of feet Human_Phenotype_Ontology:HP:0012098,MedGen:C2919341 1 1 1.0000 condition_record_support_limited 20 0 1 Edema_of_the_dorsum_of_feet 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0002355_human_phenotype_ontology_hp_0007101_human_phenotype_ontology_hp_0009030_medgen_c0311394 Difficulty walking Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394 1 1 1.0000 condition_record_support_limited 20 0 1 Difficulty_walking 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0000973_mondo_mondo_0016175_medgen_c0010495_orphanet_209 Cutis laxa Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209 1 1 1.0000 condition_record_support_limited 20 0 1 Cutis_laxa 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0012185_medgen_c4023009 Constrictive median neuropathy Human_Phenotype_Ontology:HP:0012185,MedGen:C4023009 1 1 1.0000 condition_record_support_limited 20 0 1 Constrictive_median_neuropathy 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 1 1 1.0000 condition_record_support_limited 20 0 0 Connective_tissue_disorder 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0001374_medgen_c0019555 Congenital hip dislocation Human_Phenotype_Ontology:HP:0001374,MedGen:C0019555 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_hip_dislocation 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0001762_mondo_mondo_0007342_medgen_c0009081_omim_119800_orphanet_199315 Clubfoot Human_Phenotype_Ontology:HP:0001762,MONDO:MONDO:0007342,MedGen:C0009081,OMIM:119800,Orphanet:199315 1 1 1.0000 condition_record_support_limited 20 0 1 Clubfoot 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0001073_medgen_c1851828 Cigarette-paper scars Human_Phenotype_Ontology:HP:0001073,MedGen:C1851828 1 1 1.0000 condition_record_support_limited 20 0 1 Cigarette-paper_scars 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0000518_mondo_mondo_0005129_mesh_d002386_medgen_c0086543_omim_ps116200 Cataract Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200 1 1 1.0000 condition_record_support_limited 20 0 1 Cataract 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 col5a1_related_disorders COL5A1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 COL5A1-related_disorders 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0001776_medgen_c1837835 Bilateral talipes equinovarus Human_Phenotype_Ontology:HP:0001776,MedGen:C1837835 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_talipes_equinovarus 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL5A1 human_phenotype_ontology_hp_0008067_medgen_c4024736 Abnormally lax or hyperextensible skin Human_Phenotype_Ontology:HP:0008067,MedGen:C4024736 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormally_lax_or_hyperextensible_skin 361 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A6 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene COL4A6 col4a6_related_disorder COL4A6-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 COL4A6-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene COL4A5 human_phenotype_ontology_hp_0012588_mondo_mondo_0044765_medgen_c0403397 Steroid-resistant nephrotic syndrome Human_Phenotype_Ontology:HP:0012588,MONDO:MONDO:0044765,MedGen:C0403397 1 1 1.0000 condition_record_support_limited 20 0 0 Steroid-resistant_nephrotic_syndrome 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A5 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A5 monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A5 human_phenotype_ontology_hp_0012595_medgen_c4022832 Mild proteinuria Human_Phenotype_Ontology:HP:0012595,MedGen:C4022832 1 1 1.0000 condition_record_support_limited 20 0 1 Mild_proteinuria 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A5 medgen_c1408258 Kidney damage MedGen:C1408258 1 1 1.0000 condition_record_support_limited 20 0 1 Kidney_damage 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A5 mondo_mondo_0957048_medgen_c5681367_orphanet_519302 Isolated macular dystrophy MONDO:MONDO:0957048,MedGen:C5681367,Orphanet:519302 1 1 1.0000 condition_record_support_limited 20 0 1 Isolated_macular_dystrophy 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A5 human_phenotype_ontology_hp_0000822_human_phenotype_ontology_hp_0004949_human_phenotype_ontology_hp_0005126_mondo_mondo_0005044_medgen_c0020538 Hypertensive disorder Human_Phenotype_Ontology:HP:0000822,Human_Phenotype_Ontology:HP:0004949,Human_Phenotype_Ontology:HP:0005126,MONDO:MONDO:0005044,MedGen:C0020538 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertensive_disorder 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A5 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A5 human_phenotype_ontology_hp_0008636_human_phenotype_ontology_hp_0100820_mondo_mondo_0019722_medgen_c0268731_orphanet_93548 Glomerulopathy Human_Phenotype_Ontology:HP:0008636,Human_Phenotype_Ontology:HP:0100820,MONDO:MONDO:0019722,MedGen:C0268731,Orphanet:93548 1 1 1.0000 condition_record_support_limited 20 0 1 Glomerulopathy 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A5 human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 1.0000 condition_record_support_limited 20 0 1 Focal_segmental_glomerulosclerosis 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A5 medgen_c1305904 Familial hematuria MedGen:C1305904 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_hematuria 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A5 human_phenotype_ontology_hp_0004972_medgen_c1840376 Elevated mean arterial pressure Human_Phenotype_Ontology:HP:0004972,MedGen:C1840376 1 1 1.0000 condition_record_support_limited 20 0 1 Elevated_mean_arterial_pressure 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A5 human_phenotype_ontology_hp_0000494_human_phenotype_ontology_hp_0007714_human_phenotype_ontology_hp_0007908_medgen_c0423110 Downslanted palpebral fissures Human_Phenotype_Ontology:HP:0000494,Human_Phenotype_Ontology:HP:0007714,Human_Phenotype_Ontology:HP:0007908,MedGen:C0423110 1 1 1.0000 condition_record_support_limited 20 0 1 Downslanted_palpebral_fissures 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A5 human_phenotype_ontology_hp_0000106_human_phenotype_ontology_hp_0001918_human_phenotype_ontology_hp_0008671_human_phenotype_ontology_hp_0012622_mondo_mondo_0005300_medgen_c1561643 Chronic kidney disease Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643 1 1 1.0000 condition_record_support_limited 20 0 1 Chronic_kidney_disease 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A5 mondo_mondo_0016244_medgen_c2931788_orphanet_2134 Atypical hemolytic-uremic syndrome MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134 1 1 1.0000 condition_record_support_limited 20 0 1 Atypical_hemolytic-uremic_syndrome 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A5 alport_syndrome_1 Alport syndrome 1 . 1 1 1.0000 condition_record_support_limited 20 0 1 Alport_syndrome_1 1369 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A4 human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Polycystic kidney disease Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 1 1 1.0000 condition_record_support_limited 20 0 0 Polycystic_kidney_disease 860 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL4A4 mondo_mondo_0007972_medgen_c0025281_omim_156000 Meniere disease MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000 1 1 1.0000 condition_record_support_limited 20 0 1 Meniere_disease 860 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL4A4 medgen_c1408258 Kidney damage MedGen:C1408258 1 1 1.0000 condition_record_support_limited 20 0 1 Kidney_damage 860 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL4A4 human_phenotype_ontology_hp_0000099_mondo_mondo_0002462_medgen_c0017658 Glomerulonephritis Human_Phenotype_Ontology:HP:0000099,MONDO:MONDO:0002462,MedGen:C0017658 1 1 1.0000 condition_record_support_limited 20 0 1 Glomerulonephritis 860 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL4A4 human_phenotype_ontology_hp_0001967_human_phenotype_ontology_hp_0004728_medgen_c0268747 Diffuse mesangial sclerosis Human_Phenotype_Ontology:HP:0001967,Human_Phenotype_Ontology:HP:0004728,MedGen:C0268747 1 1 1.0000 condition_record_support_limited 20 0 1 Diffuse_mesangial_sclerosis 860 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL4A4 autosomal_dominant_col4a4_related_disorders Autosomal dominant COL4A4-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_COL4A4-related_disorders 860 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL4A4 mondo_mondo_0957811_medgen_c5882699_omim_620536 Alport syndrome 3b, autosomal recessive MONDO:MONDO:0957811,MedGen:C5882699,OMIM:620536 1 1 1.0000 condition_record_support_limited 20 0 1 Alport_syndrome_3b,_autosomal_recessive 860 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture COL4A3 human_phenotype_ontology_hp_0000093_mondo_mondo_0003634_medgen_c0033687 Proteinuria Human_Phenotype_Ontology:HP:0000093,MONDO:MONDO:0003634,MedGen:C0033687 1 1 1.0000 condition_record_support_limited 20 0 1 Proteinuria 855 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A3 mondo_mondo_0060568_medgen_c4540131_omim_617682_orphanet_529965 Pilarowski-Bjornsson syndrome MONDO:MONDO:0060568,MedGen:C4540131,OMIM:617682,Orphanet:529965 1 1 1.0000 condition_record_support_limited 20 0 1 Pilarowski-Bjornsson_syndrome 855 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A3 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 1.0000 condition_record_support_limited 20 0 1 Nephrotic_syndrome 855 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A3 human_phenotype_ontology_hp_0012594_medgen_c1654921 Moderate albuminuria Human_Phenotype_Ontology:HP:0012594,MedGen:C1654921 1 1 1.0000 condition_record_support_limited 20 0 1 Moderate_albuminuria 855 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A3 human_phenotype_ontology_hp_0012587_medgen_c0473237 Macroscopic hematuria Human_Phenotype_Ontology:HP:0012587,MedGen:C0473237 1 1 1.0000 condition_record_support_limited 20 0 1 Macroscopic_hematuria 855 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A3 medgen_c0236038 Hereditary hearing loss and deafness MedGen:C0236038 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_hearing_loss_and_deafness 855 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A2 human_phenotype_ontology_hp_0030746_medgen_c0240059 Intraventricular hemorrhage Human_Phenotype_Ontology:HP:0030746,MedGen:C0240059 1 1 1.0000 condition_record_support_limited 20 0 1 Intraventricular_hemorrhage 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A2 mondo_mondo_0980747_medgen_cn380402_omim_621414 Brain small vessel disease 2B, autosomal recessive MONDO:MONDO:0980747,MedGen:CN380402,OMIM:621414 1 1 1.0000 condition_record_support_limited 20 0 0 Brain_small_vessel_disease_2B,_autosomal_recessive 84 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL4A1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 0 Seizure 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 retinal_arteries Retinal arteries . 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_arteries 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 mondo_mondo_0017410_medgen_c4082173_orphanet_2940 Porencephaly MONDO:MONDO:0017410,MedGen:C4082173,Orphanet:2940 1 1 1.0000 condition_record_support_limited 20 0 0 Porencephaly 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 human_phenotype_ontology_hp_0000609_human_phenotype_ontology_hp_0007273_medgen_c0338502 Optic nerve hypoplasia Human_Phenotype_Ontology:HP:0000609,Human_Phenotype_Ontology:HP:0007273,MedGen:C0338502 1 1 1.0000 condition_record_support_limited 20 0 0 Optic_nerve_hypoplasia 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 mondo_mondo_0005066_medgen_c0025517 Metabolic disease MONDO:MONDO:0005066,MedGen:C0025517 1 1 1.0000 condition_record_support_limited 20 0 0 Metabolic_disease 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 human_phenotype_ontology_hp_0000563_mondo_mondo_0015486_mesh_d007640_medgen_c0022578_omim_ps148300 Keratoconus Human_Phenotype_Ontology:HP:0000563,MONDO:MONDO:0015486,MeSH:D007640,MedGen:C0022578,OMIM:PS148300 1 1 1.0000 condition_record_support_limited 20 0 0 Keratoconus 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 human_phenotype_ontology_hp_0000659_mondo_mondo_0011414_medgen_c0344559_omim_604229_orphanet_708 Irido-corneo-trabecular dysgenesis Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708 1 1 1.0000 condition_record_support_limited 20 0 1 Irido-corneo-trabecular_dysgenesis 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 human_phenotype_ontology_hp_0030746_medgen_c0240059 Intraventricular hemorrhage Human_Phenotype_Ontology:HP:0030746,MedGen:C0240059 1 1 1.0000 condition_record_support_limited 20 0 1 Intraventricular_hemorrhage 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 human_phenotype_ontology_hp_0002170_medgen_c0151699 Intracranial hemorrhage Human_Phenotype_Ontology:HP:0002170,MedGen:C0151699 1 1 1.0000 condition_record_support_limited 20 0 1 Intracranial_hemorrhage 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 ebv_positive_nodal_t_and_nk_cell_lymphoma EBV-positive nodal T- and NK-cell lymphoma . 1 1 1.0000 condition_record_support_limited 20 0 1 EBV-positive_nodal_T-_and_NK-cell_lymphoma 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_cataract 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Corpus callosum, agenesis of Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 1.0000 condition_record_support_limited 20 0 1 Corpus_callosum,_agenesis_of 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_anomaly_of_kidney_and_urinary_tract 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 human_phenotype_ontology_hp_0030048_mondo_mondo_0022236_medgen_c0431384 Colpocephaly Human_Phenotype_Ontology:HP:0030048,MONDO:MONDO:0022236,MedGen:C0431384 1 1 1.0000 condition_record_support_limited 20 0 1 Colpocephaly 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 human_phenotype_ontology_hp_0002502_human_phenotype_ontology_hp_0002514_human_phenotype_ontology_hp_0005806_human_phenotype_ontology_hp_0006848_medgen_c0270685 Cerebral calcification Human_Phenotype_Ontology:HP:0002502,Human_Phenotype_Ontology:HP:0002514,Human_Phenotype_Ontology:HP:0005806,Human_Phenotype_Ontology:HP:0006848,MedGen:C0270685 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_calcification 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 mondo_mondo_0008070_medgen_c3711389_omim_161800_orphanet_98904 Actin accumulation myopathy MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904 1 1 1.0000 condition_record_support_limited 20 0 0 Actin_accumulation_myopathy 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 human_phenotype_ontology_hp_0001273_human_phenotype_ontology_hp_0007323_medgen_c1842581 Abnormal corpus callosum morphology Human_Phenotype_Ontology:HP:0001273,Human_Phenotype_Ontology:HP:0007323,MedGen:C1842581 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_corpus_callosum_morphology 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 human_phenotype_ontology_hp_0002060_medgen_c4021762 Abnormal cerebral morphology Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_cerebral_morphology 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL4A1 human_phenotype_ontology_hp_0002538_medgen_c4025701 Abnormal cerebral cortex morphology Human_Phenotype_Ontology:HP:0002538,MedGen:C4025701 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cerebral_cortex_morphology 396 large_gene_or_donor_burden_stress_case donor_burden_stress COL3A1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 937 large_gene_or_donor_burden_stress_case donor_burden_stress COL3A1 polymicrogyria_without_vascular_type_ehlers_danlos_syndrome POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME . 1 1 1.0000 condition_record_support_limited 20 0 1 POLYMICROGYRIA_WITHOUT_VASCULAR-TYPE_EHLERS-DANLOS_SYNDROME 937 large_gene_or_donor_burden_stress_case donor_burden_stress COL3A1 human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Micrognathia Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 1.0000 condition_record_support_limited 20 0 1 Micrognathia 937 large_gene_or_donor_burden_stress_case donor_burden_stress COL3A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 937 large_gene_or_donor_burden_stress_case donor_burden_stress COL3A1 mondo_mondo_0007523_medgen_c0268337_omim_130020_orphanet_285 Ehlers-Danlos syndrome, type 3 MONDO:MONDO:0007523,MedGen:C0268337,OMIM:130020,Orphanet:285 1 1 1.0000 condition_record_support_limited 20 0 1 Ehlers-Danlos_syndrome,_type_3 937 large_gene_or_donor_burden_stress_case donor_burden_stress COL3A1 mondo_mondo_0007524_medgen_c0268339 Ehlers-Danlos syndrome, dominant type 4 MONDO:MONDO:0007524,MedGen:C0268339 1 1 1.0000 condition_record_support_limited 20 0 1 Ehlers-Danlos_syndrome,_dominant_type_4 937 large_gene_or_donor_burden_stress_case donor_burden_stress COL3A1 ehlers_danlos_syndrome_nonvascular_variant EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT . 1 1 1.0000 condition_record_support_limited 20 0 0 EHLERS-DANLOS_SYNDROME,_NONVASCULAR_VARIANT 937 large_gene_or_donor_burden_stress_case donor_burden_stress COL3A1 human_phenotype_ontology_hp_0100898_medgen_c0334083 Connective tissue nevi Human_Phenotype_Ontology:HP:0100898,MedGen:C0334083 1 1 1.0000 condition_record_support_limited 20 0 1 Connective_tissue_nevi 937 large_gene_or_donor_burden_stress_case donor_burden_stress COL3A1 medgen_c1333150 Connective and Soft Tissue Disorder MedGen:C1333150 1 1 1.0000 condition_record_support_limited 20 0 1 Connective_and_Soft_Tissue_Disorder 937 large_gene_or_donor_burden_stress_case donor_burden_stress COL3A1 mondo_mondo_0024559_medgen_c0345050_omim_607086_orphanet_229 Congenital aneurysm of ascending aorta MONDO:MONDO:0024559,MedGen:C0345050,OMIM:607086,Orphanet:229 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_aneurysm_of_ascending_aorta 937 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 mondo_mondo_0019353_medgen_c0271093_omim_ps248200_orphanet_827 Stargardt disease MONDO:MONDO:0019353,MedGen:C0271093,OMIM:PS248200,Orphanet:827 1 1 1.0000 condition_record_support_limited 20 0 1 Stargardt_disease 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 human_phenotype_ontology_hp_0000773_human_phenotype_ontology_hp_0000899_human_phenotype_ontology_hp_0000908_human_phenotype_ontology_hp_0009750_medgen_c0426817 Short ribs Human_Phenotype_Ontology:HP:0000773,Human_Phenotype_Ontology:HP:0000899,Human_Phenotype_Ontology:HP:0000908,Human_Phenotype_Ontology:HP:0009750,MedGen:C0426817 1 1 1.0000 condition_record_support_limited 20 0 1 Short_ribs 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 1.0000 condition_record_support_limited 20 0 1 Scoliosis 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 human_phenotype_ontology_hp_0000541_human_phenotype_ontology_hp_0007864_human_phenotype_ontology_hp_0008021_mondo_mondo_0008375_medgen_c0035305_omim_180050 Retinal detachment Human_Phenotype_Ontology:HP:0000541,Human_Phenotype_Ontology:HP:0007864,Human_Phenotype_Ontology:HP:0008021,MONDO:MONDO:0008375,MedGen:C0035305,OMIM:180050 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_detachment 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 mondo_mondo_0044206_medgen_cn034493_omim_215150_orphanet_1427 Otospondylomegaepiphyseal dysplasia, autosomal recessive MONDO:MONDO:0044206,MedGen:CN034493,OMIM:215150,Orphanet:1427 1 1 1.0000 condition_record_support_limited 20 0 0 Otospondylomegaepiphyseal_dysplasia,_autosomal_recessive 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 human_phenotype_ontology_hp_0000774_human_phenotype_ontology_hp_0000909_human_phenotype_ontology_hp_0005252_human_phenotype_ontology_hp_0006588_medgen_c0426790 Narrow chest Human_Phenotype_Ontology:HP:0000774,Human_Phenotype_Ontology:HP:0000909,Human_Phenotype_Ontology:HP:0005252,Human_Phenotype_Ontology:HP:0006588,MedGen:C0426790 1 1 1.0000 condition_record_support_limited 20 0 1 Narrow_chest 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Myopia Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 1 1 1.0000 condition_record_support_limited 20 0 1 Myopia 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 human_phenotype_ontology_hp_0002654_mondo_mondo_0016648_medgen_c0026760_omim_ps132400_orphanet_251 Multiple epiphyseal dysplasia Human_Phenotype_Ontology:HP:0002654,MONDO:MONDO:0016648,MedGen:C0026760,OMIM:PS132400,Orphanet:251 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_epiphyseal_dysplasia 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Micrognathia Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 1.0000 condition_record_support_limited 20 0 1 Micrognathia 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 mondo_mondo_0013808_medgen_c0024454_omim_614569_orphanet_163634 Maffucci syndrome MONDO:MONDO:0013808,MedGen:C0024454,OMIM:614569,Orphanet:163634 1 1 1.0000 condition_record_support_limited 20 0 0 Maffucci_syndrome 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 mondo_mondo_0011431_medgen_c1858556_omim_604308 MASS syndrome MONDO:MONDO:0011431,MedGen:C1858556,OMIM:604308 1 1 1.0000 condition_record_support_limited 20 0 0 MASS_syndrome 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 mondo_mondo_0007846_medgen_c0220687_omim_148050_orphanet_2332 KBG syndrome MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332 1 1 1.0000 condition_record_support_limited 20 0 0 KBG_syndrome 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 human_phenotype_ontology_hp_0003274_medgen_c1846442 Hypoplastic acetabulae Human_Phenotype_Ontology:HP:0003274,MedGen:C1846442 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplastic_acetabulae 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 1.0000 condition_record_support_limited 20 0 1 Heart,_malformation_of 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 human_phenotype_ontology_hp_0001523_human_phenotype_ontology_hp_0003505_human_phenotype_ontology_hp_0003509_human_phenotype_ontology_hp_0008858_human_phenotype_ontology_hp_0008869_human_phenotype_ontology_hp_0008873_human_phenotype_ontology_hp_0008875_human_phenotype_ontology_hp_0008880_human_phenotype_ontology_hp_0008881_human_phenotype_ontology_hp_0008889_human_phenotype_ontology_hp_0008912_human_phenotype_ontology_hp_0008914_human_phenotype_ontology_hp_0008928_medgen_c1849937 Disproportionate short-limb short stature Human_Phenotype_Ontology:HP:0001523,Human_Phenotype_Ontology:HP:0003505,Human_Phenotype_Ontology:HP:0003509,Human_Phenotype_Ontology:HP:0008858,Human_Phenotype_Ontology:HP:0008869,Human_Phenotype_Ontology:HP:0008873,Human_Phenotype_Ontology:HP:0008875,Human_Phenotype_Ontology:HP:0008880,Human_Phenotype_Ontology:HP:0008881,Human_Phenotype_Ontology:HP:0008889,Human_Phenotype_Ontology:HP:0008912,Human_Phenotype_Ontology:HP:0008914,Human_Phenotype_Ontology:HP:0008928,MedGen:C1849937 1 1 1.0000 condition_record_support_limited 20 0 1 Disproportionate_short-limb_short_stature 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 human_phenotype_ontology_hp_0001385_human_phenotype_ontology_hp_0008787_mondo_mondo_0000158_medgen_c4551649_omim_ps142700 Developmental dysplasia of the hip Human_Phenotype_Ontology:HP:0001385,Human_Phenotype_Ontology:HP:0008787,MONDO:MONDO:0000158,MedGen:C4551649,OMIM:PS142700 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_dysplasia_of_the_hip 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 col2a1_related_phenotype COL2A1-related phenotype . 1 1 1.0000 condition_record_support_limited 20 0 0 COL2A1-related_phenotype 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 autosomal_dominant_col2a1_related_disorders Autosomal dominant COL2A1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_COL2A1-related_disorders 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 human_phenotype_ontology_hp_0008799_human_phenotype_ontology_hp_0008807_medgen_c1328407 Acetabular dysplasia Human_Phenotype_Ontology:HP:0008799,Human_Phenotype_Ontology:HP:0008807,MedGen:C1328407 1 1 1.0000 condition_record_support_limited 20 0 1 Acetabular_dysplasia 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 human_phenotype_ontology_hp_0004605_medgen_c1860191 Absent vertebral body mineralization Human_Phenotype_Ontology:HP:0004605,MedGen:C1860191 1 1 1.0000 condition_record_support_limited 20 0 1 Absent_vertebral_body_mineralization 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL2A1 human_phenotype_ontology_hp_0000924_medgen_c4021790 Abnormality of the skeletal system Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_skeletal_system 1101 large_gene_or_donor_burden_stress_case donor_burden_stress COL25A1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene COL25A1 human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 1.0000 condition_record_support_limited 20 0 0 Arthrogryposis_multiplex_congenita 9 low_record_burden_interpretation_limited low_record_burden_gene COL25A1 mondo_mondo_0008779_medgen_c0003886 Arthrogryposis MONDO:MONDO:0008779,MedGen:C0003886 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis 9 low_record_burden_interpretation_limited low_record_burden_gene COL1A2 human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Skeletal dysplasia Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 1 1 1.0000 condition_record_support_limited 20 0 1 Skeletal_dysplasia 722 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A2 human_phenotype_ontology_hp_0011428_medgen_c0743924 Short fetal femur length Human_Phenotype_Ontology:HP:0011428,MedGen:C0743924 1 1 1.0000 condition_record_support_limited 20 0 1 Short_fetal_femur_length 722 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A2 medgen_c4015953 Osteogenesis imperfecta, mild MedGen:C4015953 1 1 1.0000 condition_record_support_limited 20 0 1 Osteogenesis_imperfecta,_mild 722 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A2 human_phenotype_ontology_hp_0002811_human_phenotype_ontology_hp_0005761_human_phenotype_ontology_hp_0005855_medgen_c1853171 Multiple prenatal fractures Human_Phenotype_Ontology:HP:0002811,Human_Phenotype_Ontology:HP:0005761,Human_Phenotype_Ontology:HP:0005855,MedGen:C1853171 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_prenatal_fractures 722 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A2 human_phenotype_ontology_hp_0002659_human_phenotype_ontology_hp_0002662_human_phenotype_ontology_hp_0002798_human_phenotype_ontology_hp_0005710_human_phenotype_ontology_hp_0005783_human_phenotype_ontology_hp_0005931_medgen_c1390474 Increased susceptibility to fractures Human_Phenotype_Ontology:HP:0002659,Human_Phenotype_Ontology:HP:0002662,Human_Phenotype_Ontology:HP:0002798,Human_Phenotype_Ontology:HP:0005710,Human_Phenotype_Ontology:HP:0005783,Human_Phenotype_Ontology:HP:0005931,MedGen:C1390474 1 1 1.0000 condition_record_support_limited 20 0 1 Increased_susceptibility_to_fractures 722 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A2 collagen_type_1_disorder Collagen type 1 disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 Collagen_type_1_disorder 722 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A2 mondo_mondo_0100596_medgen_cn379211 COL1A2-related osteogenesis imperfecta MONDO:MONDO:0100596,MedGen:CN379211 1 1 1.0000 condition_record_support_limited 20 0 1 COL1A2-related_osteogenesis_imperfecta 722 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A2 mondo_mondo_0009806_medgen_c1850168_omim_259450_orphanet_1149_orphanet_2771 Bruck syndrome 1 MONDO:MONDO:0009806,MedGen:C1850168,OMIM:259450,Orphanet:1149,Orphanet:2771 1 1 1.0000 condition_record_support_limited 20 0 1 Bruck_syndrome_1 722 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 wiedemann_rautenstrauch_like_progeroid_syndrome Wiedemann-Rautenstrauch-like progeroid syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 Wiedemann-Rautenstrauch-like_progeroid_syndrome 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0010537_medgen_c0410935 Wide cranial sutures Human_Phenotype_Ontology:HP:0010537,MedGen:C0410935 1 1 1.0000 condition_record_support_limited 20 0 1 Wide_cranial_sutures 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0000260_medgen_c1866134 Wide anterior fontanel Human_Phenotype_Ontology:HP:0000260,MedGen:C1866134 1 1 1.0000 condition_record_support_limited 20 0 1 Wide_anterior_fontanel 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0000325_human_phenotype_ontology_hp_0004645_human_phenotype_ontology_hp_0004662_human_phenotype_ontology_hp_0004668_medgen_c1835884 Triangular face Human_Phenotype_Ontology:HP:0000325,Human_Phenotype_Ontology:HP:0004645,Human_Phenotype_Ontology:HP:0004662,Human_Phenotype_Ontology:HP:0004668,MedGen:C1835884 1 1 1.0000 condition_record_support_limited 20 0 1 Triangular_face 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Skeletal dysplasia Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 1 1 1.0000 condition_record_support_limited 20 0 1 Skeletal_dysplasia 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0002968_human_phenotype_ontology_hp_0003520_human_phenotype_ontology_hp_0008852_human_phenotype_ontology_hp_0008877_human_phenotype_ontology_hp_0008905_medgen_c1866730 Rhizomelia Human_Phenotype_Ontology:HP:0002968,Human_Phenotype_Ontology:HP:0003520,Human_Phenotype_Ontology:HP:0008852,Human_Phenotype_Ontology:HP:0008877,Human_Phenotype_Ontology:HP:0008905,MedGen:C1866730 1 1 1.0000 condition_record_support_limited 20 0 1 Rhizomelia 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0004349_medgen_c2674432 Reduced bone mineral density Human_Phenotype_Ontology:HP:0004349,MedGen:C2674432 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_bone_mineral_density 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0003084_human_phenotype_ontology_hp_0005847_medgen_c0240231 Recurrent long bone fractures Human_Phenotype_Ontology:HP:0003084,Human_Phenotype_Ontology:HP:0005847,MedGen:C0240231 1 1 1.0000 condition_record_support_limited 20 0 1 Recurrent_long_bone_fractures 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0001622_medgen_c0151526 Premature birth Human_Phenotype_Ontology:HP:0001622,MedGen:C0151526 1 1 1.0000 condition_record_support_limited 20 0 1 Premature_birth 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 mondo_mondo_0009861_medgen_c0031485_omim_261600_orphanet_716 Phenylketonuria MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716 1 1 1.0000 condition_record_support_limited 20 0 0 Phenylketonuria 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0002756_human_phenotype_ontology_hp_0005633_medgen_c0016663 Pathologic fracture Human_Phenotype_Ontology:HP:0002756,Human_Phenotype_Ontology:HP:0005633,MedGen:C0016663 1 1 1.0000 condition_record_support_limited 20 0 1 Pathologic_fracture 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 medgen_c4015948 Osteogenesis imperfecta, type III/IV MedGen:C4015948 1 1 1.0000 condition_record_support_limited 20 0 1 Osteogenesis_imperfecta,_type_III/IV 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 osteogenesis_imperfecta_type_2_thin_bone Osteogenesis imperfecta type 2, thin-bone MedGen:CN071440 1 1 1.0000 condition_record_support_limited 20 0 0 Osteogenesis_imperfecta_type_2,_thin-bone 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 medgen_c4015949 OSTEOGENESIS IMPERFECTA, TYPE IIC MedGen:C4015949 1 1 1.0000 condition_record_support_limited 20 0 0 OSTEOGENESIS_IMPERFECTA,_TYPE_IIC 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0001536_human_phenotype_ontology_hp_0008894_human_phenotype_ontology_hp_0008902_human_phenotype_ontology_hp_0008921_human_phenotype_ontology_hp_0008924_medgen_c1850171 Neonatal short-limb short stature Human_Phenotype_Ontology:HP:0001536,Human_Phenotype_Ontology:HP:0008894,Human_Phenotype_Ontology:HP:0008902,Human_Phenotype_Ontology:HP:0008921,Human_Phenotype_Ontology:HP:0008924,MedGen:C1850171 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_short-limb_short_stature 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0012768_mondo_mondo_0006663_medgen_c0004045_orphanet_137577 Neonatal asphyxia Human_Phenotype_Ontology:HP:0012768,MONDO:MONDO:0006663,MedGen:C0004045,Orphanet:137577 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_asphyxia 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 mondo_mondo_0007561_medgen_c1838280_omim_132400_orphanet_93308 Multiple epiphyseal dysplasia type 1 MONDO:MONDO:0007561,MedGen:C1838280,OMIM:132400,Orphanet:93308 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_epiphyseal_dysplasia_type_1 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0008071_medgen_c0565599 Maternal hypertension Human_Phenotype_Ontology:HP:0008071,MedGen:C0565599 1 1 1.0000 condition_record_support_limited 20 0 1 Maternal_hypertension 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0000368_medgen_c1857486 Low-set, posteriorly rotated ears Human_Phenotype_Ontology:HP:0000368,MedGen:C1857486 1 1 1.0000 condition_record_support_limited 20 0 1 Low-set,_posteriorly_rotated_ears 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0002659_human_phenotype_ontology_hp_0002662_human_phenotype_ontology_hp_0002798_human_phenotype_ontology_hp_0005710_human_phenotype_ontology_hp_0005783_human_phenotype_ontology_hp_0005931_medgen_c1390474 Increased susceptibility to fractures Human_Phenotype_Ontology:HP:0002659,Human_Phenotype_Ontology:HP:0002662,Human_Phenotype_Ontology:HP:0002798,Human_Phenotype_Ontology:HP:0005710,Human_Phenotype_Ontology:HP:0005783,Human_Phenotype_Ontology:HP:0005931,MedGen:C1390474 1 1 1.0000 condition_record_support_limited 20 0 1 Increased_susceptibility_to_fractures 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Hypertelorism Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertelorism 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0001030_medgen_c0241181 Fragile skin Human_Phenotype_Ontology:HP:0001030,MedGen:C0241181 1 1 1.0000 condition_record_support_limited 20 0 1 Fragile_skin 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0000247_human_phenotype_ontology_hp_0000249_human_phenotype_ontology_hp_0005469_medgen_c1837402 Flat occiput Human_Phenotype_Ontology:HP:0000247,Human_Phenotype_Ontology:HP:0000249,Human_Phenotype_Ontology:HP:0005469,MedGen:C1837402 1 1 1.0000 condition_record_support_limited 20 0 1 Flat_occiput 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 mondo_mondo_0007522_medgen_c4225429_orphanet_287 Ehlers-Danlos syndrome, classic type MONDO:MONDO:0007522,MedGen:C4225429,Orphanet:287 1 1 1.0000 condition_record_support_limited 20 0 1 Ehlers-Danlos_syndrome,_classic_type 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0000494_human_phenotype_ontology_hp_0007714_human_phenotype_ontology_hp_0007908_medgen_c0423110 Downslanted palpebral fissures Human_Phenotype_Ontology:HP:0000494,Human_Phenotype_Ontology:HP:0007714,Human_Phenotype_Ontology:HP:0007908,MedGen:C0423110 1 1 1.0000 condition_record_support_limited 20 0 1 Downslanted_palpebral_fissures 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0000425_human_phenotype_ontology_hp_0000428_human_phenotype_ontology_hp_0000439_human_phenotype_ontology_hp_0000459_human_phenotype_ontology_hp_0004413_human_phenotype_ontology_hp_0004505_human_phenotype_ontology_hp_0004506_human_phenotype_ontology_hp_0004666_human_phenotype_ontology_hp_0005119_human_phenotype_ontology_hp_0005280_human_phenotype_ontology_hp_0005284_medgen_c1836542 Depressed nasal bridge Human_Phenotype_Ontology:HP:0000425,Human_Phenotype_Ontology:HP:0000428,Human_Phenotype_Ontology:HP:0000439,Human_Phenotype_Ontology:HP:0000459,Human_Phenotype_Ontology:HP:0004413,Human_Phenotype_Ontology:HP:0004505,Human_Phenotype_Ontology:HP:0004506,Human_Phenotype_Ontology:HP:0004666,Human_Phenotype_Ontology:HP:0005119,Human_Phenotype_Ontology:HP:0005280,Human_Phenotype_Ontology:HP:0005284,MedGen:C1836542 1 1 1.0000 condition_record_support_limited 20 0 1 Depressed_nasal_bridge 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0002701_human_phenotype_ontology_hp_0002702_human_phenotype_ontology_hp_0005454_human_phenotype_ontology_hp_0005471_human_phenotype_ontology_hp_0005474_medgen_c1833762 Decreased calvarial ossification Human_Phenotype_Ontology:HP:0002701,Human_Phenotype_Ontology:HP:0002702,Human_Phenotype_Ontology:HP:0005454,Human_Phenotype_Ontology:HP:0005471,Human_Phenotype_Ontology:HP:0005474,MedGen:C1833762 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_calvarial_ossification 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0006367_medgen_c1970497 Crumpled long bones Human_Phenotype_Ontology:HP:0006367,MedGen:C1970497 1 1 1.0000 condition_record_support_limited 20 0 1 Crumpled_long_bones 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0005461_medgen_c1867114 Craniofacial disproportion Human_Phenotype_Ontology:HP:0005461,MedGen:C1867114 1 1 1.0000 condition_record_support_limited 20 0 1 Craniofacial_disproportion 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0000267_medgen_c1860245 Cranial asymmetry Human_Phenotype_Ontology:HP:0000267,MedGen:C1860245 1 1 1.0000 condition_record_support_limited 20 0 1 Cranial_asymmetry 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 mondo_mondo_0100599_medgen_cn379214 COL1A1-related Ehlers-Danlos syndrome MONDO:MONDO:0100599,MedGen:CN379214 1 1 1.0000 condition_record_support_limited 20 0 1 COL1A1-related_Ehlers-Danlos_syndrome 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0000959_human_phenotype_ontology_hp_0000978_human_phenotype_ontology_hp_0007433_human_phenotype_ontology_hp_0007472_medgen_c0423798 Bruising susceptibility Human_Phenotype_Ontology:HP:0000959,Human_Phenotype_Ontology:HP:0000978,Human_Phenotype_Ontology:HP:0007433,Human_Phenotype_Ontology:HP:0007472,MedGen:C0423798 1 1 1.0000 condition_record_support_limited 20 0 1 Bruising_susceptibility 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0000337_human_phenotype_ontology_hp_0000352_human_phenotype_ontology_hp_0000354_medgen_c1849089 Broad forehead Human_Phenotype_Ontology:HP:0000337,Human_Phenotype_Ontology:HP:0000352,Human_Phenotype_Ontology:HP:0000354,MedGen:C1849089 1 1 1.0000 condition_record_support_limited 20 0 1 Broad_forehead 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0003023_medgen_c1850178 Bowing of limbs due to multiple fractures Human_Phenotype_Ontology:HP:0003023,MedGen:C1850178 1 1 1.0000 condition_record_support_limited 20 0 1 Bowing_of_limbs_due_to_multiple_fractures 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0000427_human_phenotype_ontology_hp_0000435_human_phenotype_ontology_hp_0000441_human_phenotype_ontology_hp_0000463_medgen_c1840077 Anteverted nares Human_Phenotype_Ontology:HP:0000427,Human_Phenotype_Ontology:HP:0000435,Human_Phenotype_Ontology:HP:0000441,Human_Phenotype_Ontology:HP:0000463,MedGen:C1840077 1 1 1.0000 condition_record_support_limited 20 0 1 Anteverted_nares 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0000377_human_phenotype_ontology_hp_0000390_human_phenotype_ontology_hp_0000398_human_phenotype_ontology_hp_0004465_human_phenotype_ontology_hp_0008562_human_phenotype_ontology_hp_0008566_human_phenotype_ontology_hp_0008567_human_phenotype_ontology_hp_0008572_human_phenotype_ontology_hp_0008580_human_phenotype_ontology_hp_0008582_human_phenotype_ontology_hp_0008594_human_phenotype_ontology_hp_0008602_human_phenotype_ontology_hp_0040111_medgen_c0857379 Abnormal pinna morphology Human_Phenotype_Ontology:HP:0000377,Human_Phenotype_Ontology:HP:0000390,Human_Phenotype_Ontology:HP:0000398,Human_Phenotype_Ontology:HP:0004465,Human_Phenotype_Ontology:HP:0008562,Human_Phenotype_Ontology:HP:0008566,Human_Phenotype_Ontology:HP:0008567,Human_Phenotype_Ontology:HP:0008572,Human_Phenotype_Ontology:HP:0008580,Human_Phenotype_Ontology:HP:0008582,Human_Phenotype_Ontology:HP:0008594,Human_Phenotype_Ontology:HP:0008602,Human_Phenotype_Ontology:HP:0040111,MedGen:C0857379 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_pinna_morphology 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL1A1 human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_bleeding 1430 large_gene_or_donor_burden_stress_case donor_burden_stress COL18A1 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 214 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL18A1 human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 1.0000 condition_record_support_limited 20 0 1 Macular_dystrophy 214 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL18A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 214 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL18A1 mondo_mondo_0008021_medgen_cn072330_omim_158350 Cowden syndrome 1 MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350 1 1 1.0000 condition_record_support_limited 20 0 1 Cowden_syndrome_1 214 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COL17A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 180 large_gene_or_donor_burden_stress_case donor_burden_stress COL17A1 mondo_mondo_0007550_medgen_c0079295_omim_131760_orphanet_79396 Epidermolysis bullosa simplex 1A, generalized severe MONDO:MONDO:0007550,MedGen:C0079295,OMIM:131760,Orphanet:79396 1 1 1.0000 condition_record_support_limited 20 0 0 Epidermolysis_bullosa_simplex_1A,_generalized_severe 180 large_gene_or_donor_burden_stress_case donor_burden_stress COL17A1 human_phenotype_ontology_hp_0001131_human_phenotype_ontology_hp_0007775_mondo_mondo_0018102_medgen_c0010036_orphanet_34533 Corneal dystrophy Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533 1 1 1.0000 condition_record_support_limited 20 0 1 Corneal_dystrophy 180 large_gene_or_donor_burden_stress_case donor_burden_stress COL17A1 mondo_mondo_0007092_medgen_c0399368_omim_104500_orphanet_88661 Amelogenesis imperfecta - hypoplastic autosomal dominant - local MONDO:MONDO:0007092,MedGen:C0399368,OMIM:104500,Orphanet:88661 1 1 1.0000 condition_record_support_limited 20 0 1 Amelogenesis_imperfecta_-_hypoplastic_autosomal_dominant_-_local 180 large_gene_or_donor_burden_stress_case donor_burden_stress COL17A1 human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Abnormality of the skin Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_skin 180 large_gene_or_donor_burden_stress_case donor_burden_stress COL12A1 mondo_mondo_0009681_medgen_c0410179_omim_254090_orphanet_75840 Ullrich congenital muscular dystrophy 1A MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840 1 1 1.0000 condition_record_support_limited 20 0 1 Ullrich_congenital_muscular_dystrophy_1A 132 large_gene_or_donor_burden_stress_case donor_burden_stress COL12A1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 132 large_gene_or_donor_burden_stress_case donor_burden_stress COL12A1 medgen_c5680153 Myopathic Ehlers-Danlos syndrome MedGen:C5680153 1 1 1.0000 condition_record_support_limited 20 0 0 Myopathic_Ehlers-Danlos_syndrome 132 large_gene_or_donor_burden_stress_case donor_burden_stress COL12A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 132 large_gene_or_donor_burden_stress_case donor_burden_stress COL12A1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 132 large_gene_or_donor_burden_stress_case donor_burden_stress COL12A1 human_phenotype_ontology_hp_0003549_medgen_c4025596 Abnormality of connective tissue Human_Phenotype_Ontology:HP:0003549,MedGen:C4025596 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_connective_tissue 132 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A2 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 0 Sensorineural_hearing_loss_disorder 197 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A2 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 197 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A2 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 197 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A2 mondo_mondo_0009768_medgen_c2749477_omim_257850_orphanet_2710 Oculodentodigital dysplasia, autosomal recessive MONDO:MONDO:0009768,MedGen:C2749477,OMIM:257850,Orphanet:2710 1 1 1.0000 condition_record_support_limited 20 0 1 Oculodentodigital_dysplasia,_autosomal_recessive 197 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A2 mesh_c580334_medgen_c3711374 Nonsyndromic Deafness MeSH:C580334,MedGen:C3711374 1 1 1.0000 condition_record_support_limited 20 0 1 Nonsyndromic_Deafness 197 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A1 sporadic_abdominal_aortic_aneurysm sporadic abdominal aortic aneurysm . 1 1 1.0000 condition_record_support_limited 20 0 0 sporadic_abdominal_aortic_aneurysm 248 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A1 human_phenotype_ontology_hp_0000506_mondo_mondo_0008537_medgen_c0423113_omim_187350_orphanet_98575 Telecanthus Human_Phenotype_Ontology:HP:0000506,MONDO:MONDO:0008537,MedGen:C0423113,OMIM:187350,Orphanet:98575 1 1 1.0000 condition_record_support_limited 20 0 1 Telecanthus 248 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A1 human_phenotype_ontology_hp_0000440_human_phenotype_ontology_hp_0000449_human_phenotype_ontology_hp_0000450_human_phenotype_ontology_hp_0003192_human_phenotype_ontology_hp_0003195_human_phenotype_ontology_hp_0003196_human_phenotype_ontology_hp_0005270_human_phenotype_ontology_hp_0200092_medgen_c1854114 Short nose Human_Phenotype_Ontology:HP:0000440,Human_Phenotype_Ontology:HP:0000449,Human_Phenotype_Ontology:HP:0000450,Human_Phenotype_Ontology:HP:0003192,Human_Phenotype_Ontology:HP:0003195,Human_Phenotype_Ontology:HP:0003196,Human_Phenotype_Ontology:HP:0005270,Human_Phenotype_Ontology:HP:0200092,MedGen:C1854114 1 1 1.0000 condition_record_support_limited 20 0 1 Short_nose 248 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 248 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 248 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A1 human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Myopia Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 1 1 1.0000 condition_record_support_limited 20 0 1 Myopia 248 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A1 human_phenotype_ontology_hp_0000485_human_phenotype_ontology_hp_0007660_mondo_mondo_0009576_medgen_c5574682_omim_249300 Megalocornea Human_Phenotype_Ontology:HP:0000485,Human_Phenotype_Ontology:HP:0007660,MONDO:MONDO:0009576,MedGen:C5574682,OMIM:249300 1 1 1.0000 condition_record_support_limited 20 0 1 Megalocornea 248 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A1 medgen_c4015965 Marshall/Stickler syndrome MedGen:C4015965 1 1 1.0000 condition_record_support_limited 20 0 0 Marshall/Stickler_syndrome 248 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 248 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A1 human_phenotype_ontology_hp_0000327_human_phenotype_ontology_hp_0004644_medgen_c0240310 Hypoplasia of the maxilla Human_Phenotype_Ontology:HP:0000327,Human_Phenotype_Ontology:HP:0004644,MedGen:C0240310 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplasia_of_the_maxilla 248 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A1 human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Hypertelorism Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertelorism 248 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A1 human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Cleft palate Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 1.0000 condition_record_support_limited 20 0 1 Cleft_palate 248 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A1 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 248 large_gene_or_donor_burden_stress_case donor_burden_stress COL11A1 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 248 large_gene_or_donor_burden_stress_case donor_burden_stress COG6 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COG6 human_phenotype_ontology_hp_0000966_human_phenotype_ontology_hp_0007551_human_phenotype_ontology_hp_0007571_medgen_c0020620 Hypohidrosis Human_Phenotype_Ontology:HP:0000966,Human_Phenotype_Ontology:HP:0007551,Human_Phenotype_Ontology:HP:0007571,MedGen:C0020620 1 1 1.0000 condition_record_support_limited 20 0 1 Hypohidrosis 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COG6 mondo_mondo_0014558_medgen_c4225396_omim_616268_orphanet_457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome MONDO:MONDO:0014558,MedGen:C4225396,OMIM:616268,Orphanet:457193 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_intellectual_disability-craniofacial_anomalies-cardiac_defects_syndrome 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COG5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COG5 cog5_related_disorder COG5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 COG5-related_disorder 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COG4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COG4 human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Delayed gross motor development Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_gross_motor_development 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COG4 cog4_related_disorder COG4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 COG4-related_disorder 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COG1 human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 1.0000 condition_record_support_limited 20 0 1 Nephrotic_syndrome 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COCH human_phenotype_ontology_hp_0000399_human_phenotype_ontology_hp_0001731_medgen_c4021806 Prelingual sensorineural hearing impairment Human_Phenotype_Ontology:HP:0000399,Human_Phenotype_Ontology:HP:0001731,MedGen:C4021806 1 1 1.0000 condition_record_support_limited 20 0 1 Prelingual_sensorineural_hearing_impairment 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COCH mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 1.0000 condition_record_support_limited 20 0 1 Nonsyndromic_genetic_hearing_loss 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COCH human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Bilateral sensorineural hearing impairment Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_sensorineural_hearing_impairment 35 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture COASY mondo_mondo_0012444_medgen_c1857747_omim_610217_orphanet_35069 Neurodegeneration with brain iron accumulation 2B MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217,Orphanet:35069 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodegeneration_with_brain_iron_accumulation_2B 30 compact_adjacent_exon_block_opportunity local_compact_architecture COASY mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_cerebellar_hypoplasia 30 compact_adjacent_exon_block_opportunity local_compact_architecture COASY coasy_related_disorder COASY-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 COASY-related_disorder 30 compact_adjacent_exon_block_opportunity local_compact_architecture COA8 mondo_mondo_0700250_medgen_c5435656_omim_220110 Mitochondrial complex IV deficiency, nuclear type 1 MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_complex_IV_deficiency,_nuclear_type_1 15 low_record_burden_interpretation_limited low_record_burden_gene COA5 mondo_mondo_0014667_medgen_c4225154_omim_616500_orphanet_1561 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 MONDO:MONDO:0014667,MedGen:C4225154,OMIM:616500,Orphanet:1561 1 1 1.0000 condition_record_support_limited 20 0 0 Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_3 1 low_record_burden_interpretation_limited low_record_burden_gene CNTNAP2 mondo_mondo_0016377_medgen_c4751168 Pitt-Hopkins-like syndrome MONDO:MONDO:0016377,MedGen:C4751168 1 1 1.0000 condition_record_support_limited 20 0 0 Pitt-Hopkins-like_syndrome 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNTNAP2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNTNAP2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNTNAP2 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 99 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNTNAP1 congenital_hypomyelination_neuropathy_with_or_without_arthrogryposis Congenital hypomyelination neuropathy with or without arthrogryposis . 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_hypomyelination_neuropathy_with_or_without_arthrogryposis 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNTNAP1 mondo_mondo_0007157_medgen_c0220662_omim_108120_orphanet_1146 Arthrogryposis, distal, type 1A MONDO:MONDO:0007157,MedGen:C0220662,OMIM:108120,Orphanet:1146 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis,_distal,_type_1A 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNTN6 human_phenotype_ontology_hp_0000729_medgen_c0856975 Autistic behavior Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 1.0000 condition_record_support_limited 20 0 0 Autistic_behavior 2 low_record_burden_interpretation_limited low_record_burden_gene CNTN6 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene CNTN2 mondo_mondo_0100038_medgen_c5568766_orphanet_528084 Complex neurodevelopmental disorder MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 1 1 1.0000 condition_record_support_limited 20 0 0 Complex_neurodevelopmental_disorder 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNTN1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNPY3 condition_not_provided condition not provided MedGen:CN169374 1 1 1.0000 condition_record_support_limited 20 1 1 not_specified 8 low_record_burden_interpretation_limited low_record_burden_gene CNPY2 human_phenotype_ontology_hp_0001363_human_phenotype_ontology_hp_0001365_human_phenotype_ontology_hp_0004494_human_phenotype_ontology_hp_0005448_human_phenotype_ontology_hp_0005457_human_phenotype_ontology_hp_0005467_human_phenotype_ontology_hp_0008492_mondo_mondo_0015469_mesh_d003398_medgen_c0010278_omim_ps123100_orphanet_1531 Craniosynostosis syndrome Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531 1 1 1.0000 condition_record_support_limited 20 0 1 Craniosynostosis_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene CNPY2 human_phenotype_ontology_hp_0000271_medgen_c4025871 Abnormality of the face Human_Phenotype_Ontology:HP:0000271,MedGen:C4025871 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_face 1 low_record_burden_interpretation_limited low_record_burden_gene CNP mondo_mondo_0033657_medgen_c5436730_omim_619071 Leukodystrophy, hypomyelinating, 20 MONDO:MONDO:0033657,MedGen:C5436730,OMIM:619071 1 1 1.0000 condition_record_support_limited 20 0 0 Leukodystrophy,_hypomyelinating,_20 6 low_record_burden_interpretation_limited low_record_burden_gene CNOT3 cnot3_associated_disorder CNOT3-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CNOT3-associated_disorder 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNOT2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene CNOT2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene CNOT2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 6 low_record_burden_interpretation_limited low_record_burden_gene CNOT2 mondo_mondo_0014379_medgen_c4014538_omim_615873_orphanet_404448 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder MONDO:MONDO:0014379,MedGen:C4014538,OMIM:615873,Orphanet:404448 1 1 1.0000 condition_record_support_limited 20 0 0 ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene CNOT1 nuerodevelopment_disorder Nuerodevelopment disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 Nuerodevelopment_disorder 45 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CNOT1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 45 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CNOT1 human_phenotype_ontology_hp_0001360_human_phenotype_ontology_hp_0009807_mondo_mondo_0016296_medgen_c0079541_omim_ps236100_orphanet_2162 Holoprosencephaly sequence Human_Phenotype_Ontology:HP:0001360,Human_Phenotype_Ontology:HP:0009807,MONDO:MONDO:0016296,MedGen:C0079541,OMIM:PS236100,Orphanet:2162 1 1 1.0000 condition_record_support_limited 20 0 1 Holoprosencephaly_sequence 45 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CNOT1 mondo_mondo_0100038_medgen_c5568766_orphanet_528084 Complex neurodevelopmental disorder MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 1 1 1.0000 condition_record_support_limited 20 0 1 Complex_neurodevelopmental_disorder 45 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CNOT1 mondo_mondo_0030009_medgen_c5394241_omim_618840 Alopecia-intellectual disability syndrome 4 MONDO:MONDO:0030009,MedGen:C5394241,OMIM:618840 1 1 1.0000 condition_record_support_limited 20 0 0 Alopecia-intellectual_disability_syndrome_4 45 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CNNM4 cnnm4_related_disorder CNNM4-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CNNM4-related_disorder 49 compact_adjacent_exon_block_opportunity local_compact_architecture CNNM2 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 39 compact_adjacent_exon_block_opportunity local_compact_architecture CNNM2 human_phenotype_ontology_hp_0002917_human_phenotype_ontology_hp_0003284_mondo_mondo_0018100_medgen_c0151723_omim_ps602014 Hypomagnesemia Human_Phenotype_Ontology:HP:0002917,Human_Phenotype_Ontology:HP:0003284,MONDO:MONDO:0018100,MedGen:C0151723,OMIM:PS602014 1 1 1.0000 condition_record_support_limited 20 0 0 Hypomagnesemia 39 compact_adjacent_exon_block_opportunity local_compact_architecture CNNM2 cnnm2_related_disorders CNNM2-Related Disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 CNNM2-Related_Disorders 39 compact_adjacent_exon_block_opportunity local_compact_architecture CNKSR2 x_linked_recessive_seizure_and_neurodevelopmental_deficit X-linked recessive seizure and neurodevelopmental deficit . 1 1 1.0000 condition_record_support_limited 20 0 0 X-linked_recessive_seizure_and_neurodevelopmental_deficit 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNKSR2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNKSR2 cnksr2_related_disorder CNKSR2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CNKSR2-related_disorder 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGB3 human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 1.0000 condition_record_support_limited 20 0 1 Optic_atrophy 271 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGB3 human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 1.0000 condition_record_support_limited 20 0 1 Nystagmus 271 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGB3 human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 1.0000 condition_record_support_limited 20 0 1 Macular_dystrophy 271 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGB3 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy 271 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGB3 mondo_mondo_0100446_medgen_cn305596 CNGB3-related retinopathy MONDO:MONDO:0100446,MedGen:CN305596 1 1 1.0000 condition_record_support_limited 20 0 1 CNGB3-related_retinopathy 271 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGB3 human_phenotype_ontology_hp_0000512_human_phenotype_ontology_hp_0003285_medgen_c0476397 Abnormal electroretinogram Human_Phenotype_Ontology:HP:0000512,Human_Phenotype_Ontology:HP:0003285,MedGen:C0476397 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_electroretinogram 271 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGB1 mondo_mondo_0800403_medgen_cn322609 CNGB1-related retinopathy MONDO:MONDO:0800403,MedGen:CN322609 1 1 1.0000 condition_record_support_limited 20 0 1 CNGB1-related_retinopathy 181 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA3 maculopathy maculopathy . 1 1 1.0000 condition_record_support_limited 20 0 0 maculopathy 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA3 human_phenotype_ontology_hp_0000613_medgen_c0085636 Photophobia Human_Phenotype_Ontology:HP:0000613,MedGen:C0085636 1 1 1.0000 condition_record_support_limited 20 0 1 Photophobia 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA3 human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 1.0000 condition_record_support_limited 20 0 1 Optic_atrophy 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA3 human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 1.0000 condition_record_support_limited 20 0 1 Macular_dystrophy 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA3 human_phenotype_ontology_hp_0000608_human_phenotype_ontology_hp_0007694_mondo_mondo_0003004_medgen_c0024437 Macular degeneration Human_Phenotype_Ontology:HP:0000608,Human_Phenotype_Ontology:HP:0007694,MONDO:MONDO:0003004,MedGen:C0024437 1 1 1.0000 condition_record_support_limited 20 0 1 Macular_degeneration 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA3 human_phenotype_ontology_hp_0000551_medgen_c0234629 Color vision defect Human_Phenotype_Ontology:HP:0000551,MedGen:C0234629 1 1 1.0000 condition_record_support_limited 20 0 1 Color_vision_defect 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA3 mondo_mondo_0800102_medgen_cn315672 CNGA3-related retinopathy MONDO:MONDO:0800102,MedGen:CN315672 1 1 1.0000 condition_record_support_limited 20 0 1 CNGA3-related_retinopathy 224 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA1 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA1 human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 1.0000 condition_record_support_limited 20 0 1 Macular_dystrophy 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA1 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CNGA1 mondo_mondo_0800405_medgen_cn322611 CNGA1-related retinopathy MONDO:MONDO:0800405,MedGen:CN322611 1 1 1.0000 condition_record_support_limited 20 0 1 CNGA1-related_retinopathy 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLUAP1 mondo_mondo_0010854_medgen_c1838329_omim_600268_orphanet_3339 Toriello-Lacassie-Droste syndrome MONDO:MONDO:0010854,MedGen:C1838329,OMIM:600268,Orphanet:3339 1 1 1.0000 condition_record_support_limited 20 0 1 Toriello-Lacassie-Droste_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene CLUAP1 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 1 Leber_congenital_amaurosis 1 low_record_burden_interpretation_limited low_record_burden_gene CLTC mondo_mondo_0012371_medgen_c1860991_omim_609942_orphanet_648 Noonan syndrome 3 MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648 1 1 1.0000 condition_record_support_limited 20 0 0 Noonan_syndrome_3 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLTC mondo_mondo_8000012_medgen_c4015728_omim_616263_orphanet_456312 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:MONDO:8000012,MedGen:C4015728,OMIM:616263,Orphanet:456312 1 1 1.0000 condition_record_support_limited 20 0 1 Neurologic,_endocrine,_and_pancreatic_disease,_multisystem,_infantile-onset_1 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLTC mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLTC human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLTC human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLTC human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLTC cltc_related_disorder CLTC-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CLTC-related_disorder 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLTC mondo_mondo_0015802_medgen_c5680502_orphanet_178469 Autosomal dominant non-syndromic intellectual disability MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_non-syndromic_intellectual_disability 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLTC human_phenotype_ontology_hp_0001273_human_phenotype_ontology_hp_0007323_medgen_c1842581 Abnormal corpus callosum morphology Human_Phenotype_Ontology:HP:0001273,Human_Phenotype_Ontology:HP:0007323,MedGen:C1842581 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_corpus_callosum_morphology 123 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLRN2 mondo_mondo_0030905_medgen_c5436937_omim_619174 Hearing loss, autosomal recessive 117 MONDO:MONDO:0030905,MedGen:C5436937,OMIM:619174 1 1 1.0000 condition_record_support_limited 20 0 0 Hearing_loss,_autosomal_recessive_117 1 low_record_burden_interpretation_limited low_record_burden_gene CLRN1 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 97 compact_adjacent_exon_block_opportunity local_compact_architecture CLPX mondo_mondo_0060729_medgen_c4693947_omim_618015 Protoporphyria, erythropoietic, 2 MONDO:MONDO:0060729,MedGen:C4693947,OMIM:618015 1 1 1.0000 condition_record_support_limited 20 0 0 Protoporphyria,_erythropoietic,_2 1 low_record_burden_interpretation_limited low_record_burden_gene CLPP mondo_mondo_0009300_medgen_c4551721_omim_233400_orphanet_2855_orphanet_642945 Perrault syndrome 1 MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400,Orphanet:2855,Orphanet:642945 1 1 1.0000 condition_record_support_limited 20 0 0 Perrault_syndrome_1 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLPP autosomal_recessive_hearing_impairment_with_normal_menstrual_cycles Autosomal recessive hearing impairment with normal menstrual cycles . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_hearing_impairment_with_normal_menstrual_cycles 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLPB human_phenotype_ontology_hp_0410253_medgen_c0151787 Myeloid maturation arrest Human_Phenotype_Ontology:HP:0410253,MedGen:C0151787 1 1 1.0000 condition_record_support_limited 20 0 1 Myeloid_maturation_arrest 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLPB human_phenotype_ontology_hp_0001935_mondo_mondo_0001245_medgen_c5194182 Microcytic anemia Human_Phenotype_Ontology:HP:0001935,MONDO:MONDO:0001245,MedGen:C5194182 1 1 1.0000 condition_record_support_limited 20 0 1 Microcytic_anemia 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLPB human_phenotype_ontology_hp_0003344_medgen_c3151952 3-Methylglutaric aciduria Human_Phenotype_Ontology:HP:0003344,MedGen:C3151952 1 1 1.0000 condition_record_support_limited 20 0 1 3-Methylglutaric_aciduria 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLPB human_phenotype_ontology_hp_0003535_mondo_mondo_0017359_medgen_c3696376_omim_ps250950_orphanet_289902 3-Methylglutaconic aciduria Human_Phenotype_Ontology:HP:0003535,MONDO:MONDO:0017359,MedGen:C3696376,OMIM:PS250950,Orphanet:289902 1 1 1.0000 condition_record_support_limited 20 0 1 3-Methylglutaconic_aciduria 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLP1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene CLP1 mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 Pontoneocerebellar hypoplasia MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 1 1 1.0000 condition_record_support_limited 20 0 1 Pontoneocerebellar_hypoplasia 4 low_record_burden_interpretation_limited low_record_burden_gene CLN8 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 0 Seizure 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN8 cln8_related_disorder CLN8-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CLN8-related_disorder 87 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN6 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_ataxia 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN6 mondo_mondo_0009061_medgen_c0010674_omim_219700_orphanet_586 Cystic fibrosis MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586 1 1 1.0000 condition_record_support_limited 20 0 1 Cystic_fibrosis 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN6 cln6_related_disorder CLN6-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CLN6-related_disorder 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN5 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN5 cln5_related_disorder CLN5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CLN5-related_disorder 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN5 human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_metabolism/homeostasis 152 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN3 early_onset_and_severe_retinal_dystrophy early onset and severe retinal dystrophy . 1 1 1.0000 condition_record_support_limited 20 0 1 early_onset_and_severe_retinal_dystrophy 220 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLN3 cln3_related_disorder CLN3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CLN3-related_disorder 220 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLMP mondo_mondo_0014097_medgen_c5441717_orphanet_2301 Congenital short bowel syndrome MONDO:MONDO:0014097,MedGen:C5441717,Orphanet:2301 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_short_bowel_syndrome 9 low_record_burden_interpretation_limited low_record_burden_gene CLIP1 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene CLIC5 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 0 Hearing_loss,_autosomal_recessive 3 low_record_burden_interpretation_limited low_record_burden_gene CLIC4 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene CLHC1 human_phenotype_ontology_hp_0002515_medgen_c0231712 Waddling gait Human_Phenotype_Ontology:HP:0002515,MedGen:C0231712 1 1 1.0000 condition_record_support_limited 20 0 1 Waddling_gait 1 low_record_burden_interpretation_limited low_record_burden_gene CLHC1 marked_hypotonia Marked Hypotonia MedGen:CN228301 1 1 1.0000 condition_record_support_limited 20 0 1 Marked_Hypotonia 1 low_record_burden_interpretation_limited low_record_burden_gene CLGN human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene CLEC3B mondo_mondo_0859568_medgen_c5774187_omim_619977 Macular dystrophy, retinal, 4 MONDO:MONDO:0859568,MedGen:C5774187,OMIM:619977 1 1 1.0000 condition_record_support_limited 20 0 0 Macular_dystrophy,_retinal,_4 1 low_record_burden_interpretation_limited low_record_burden_gene CLDN9 medgen_c3887873 Hearing loss MedGen:C3887873 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_loss 3 low_record_burden_interpretation_limited low_record_burden_gene CLDN5 mondo_mondo_0002254_medgen_c0039082 Syndromic disease MONDO:MONDO:0002254,MedGen:C0039082 1 1 1.0000 condition_record_support_limited 20 0 1 Syndromic_disease 6 low_record_burden_interpretation_limited low_record_burden_gene CLDN5 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene CLDN5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 6 low_record_burden_interpretation_limited low_record_burden_gene CLDN5 cldn5_deficiency CLDN5 deficiency . 1 1 1.0000 condition_record_support_limited 20 0 0 CLDN5_deficiency 6 low_record_burden_interpretation_limited low_record_burden_gene CLDN2 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 1.0000 condition_record_support_limited 20 0 1 Male_infertility 1 low_record_burden_interpretation_limited low_record_burden_gene CLDN2 mondo_mondo_0025356_medgen_c5542351_omim_301060 Azoospermia, obstructive, with nephrolithiasis MONDO:MONDO:0025356,MedGen:C5542351,OMIM:301060 1 1 1.0000 condition_record_support_limited 20 0 1 Azoospermia,_obstructive,_with_nephrolithiasis 1 low_record_burden_interpretation_limited low_record_burden_gene CLDN19 cldn19_related_disorder CLDN19-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CLDN19-related_disorder 25 compact_adjacent_exon_block_opportunity local_compact_architecture CLDN16 mondo_mondo_0014536_medgen_c4015537_omim_616216 Thrombocytopenia 5 MONDO:MONDO:0014536,MedGen:C4015537,OMIM:616216 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombocytopenia_5 56 compact_adjacent_exon_block_opportunity local_compact_architecture CLDN16 mondo_mondo_0009548_medgen_c4721891_omim_248190_orphanet_2196 Renal hypomagnesemia 5 with ocular involvement MONDO:MONDO:0009548,MedGen:C4721891,OMIM:248190,Orphanet:2196 1 1 1.0000 condition_record_support_limited 20 0 0 Renal_hypomagnesemia_5_with_ocular_involvement 56 compact_adjacent_exon_block_opportunity local_compact_architecture CLDN16 medgen_c3151482 HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING MedGen:C3151482 1 1 1.0000 condition_record_support_limited 20 0 0 HYPERCALCIURIA,_CHILDHOOD,_SELF-LIMITING 56 compact_adjacent_exon_block_opportunity local_compact_architecture CLDN14 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 0 Sensorineural_hearing_loss_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene CLCNKB human_phenotype_ontology_hp_0000093_mondo_mondo_0003634_medgen_c0033687 Proteinuria Human_Phenotype_Ontology:HP:0000093,MONDO:MONDO:0003634,MedGen:C0033687 1 1 1.0000 condition_record_support_limited 20 0 1 Proteinuria 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCNKB human_phenotype_ontology_hp_0000790_medgen_c0018965 Hematuria Human_Phenotype_Ontology:HP:0000790,MedGen:C0018965 1 1 1.0000 condition_record_support_limited 20 0 1 Hematuria 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCNKB mondo_mondo_0024556_medgen_c4551983_omim_604364 Epilepsy, familial focal, with variable foci 1 MONDO:MONDO:0024556,MedGen:C4551983,OMIM:604364 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy,_familial_focal,_with_variable_foci_1 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCNKB bartter_syndrome_type_4b_with_sensorineural_deafness BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS . 1 1 1.0000 condition_record_support_limited 20 0 0 BARTTER_SYNDROME,_TYPE_4B,_WITH_SENSORINEURAL_DEAFNESS 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCNKB autosomal_recessive_clcnkb_related_disorders Autosomal recessive CLCNKB-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_CLCNKB-related_disorders 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCNKB mondo_mondo_0011877_medgen_c1843330_omim_607634_orphanet_2783 Autosomal dominant osteopetrosis 1 MONDO:MONDO:0011877,MedGen:C1843330,OMIM:607634,Orphanet:2783 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_osteopetrosis_1 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCNKA mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive 5 low_record_burden_interpretation_limited low_record_burden_gene CLCNKA medgen_c0011053 Deafness MedGen:C0011053 1 1 1.0000 condition_record_support_limited 20 0 1 Deafness 5 low_record_burden_interpretation_limited low_record_burden_gene CLCN7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN7 human_phenotype_ontology_hp_0000924_medgen_c4021790 Abnormality of the skeletal system Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_skeletal_system 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN6 mondo_mondo_0030947_medgen_c5543020_omim_619173_orphanet_610573 Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities MONDO:MONDO:0030947,MedGen:C5543020,OMIM:619173,Orphanet:610573 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodegeneration,_childhood-onset,_with_hypotonia,_respiratory_insufficiency,_and_brain_imaging_abnormalities 1 low_record_burden_interpretation_limited low_record_burden_gene CLCN5 human_phenotype_ontology_hp_0005569_human_phenotype_ontology_hp_0008659_human_phenotype_ontology_hp_0100956_medgen_c4024644 Multiple small medullary renal cysts Human_Phenotype_Ontology:HP:0005569,Human_Phenotype_Ontology:HP:0008659,Human_Phenotype_Ontology:HP:0100956,MedGen:C4024644 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_small_medullary_renal_cysts 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN5 human_phenotype_ontology_hp_0003126_medgen_c1839606 Low-molecular-weight proteinuria Human_Phenotype_Ontology:HP:0003126,MedGen:C1839606 1 1 1.0000 condition_record_support_limited 20 0 1 Low-molecular-weight_proteinuria 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN5 hypophosphataemia_x_linked Hypophosphataemia, X-linked . 1 1 1.0000 condition_record_support_limited 20 0 0 Hypophosphataemia,_X-linked 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN5 human_phenotype_ontology_hp_0002153_medgen_c0020461 Hyperkalemia Human_Phenotype_Ontology:HP:0002153,MedGen:C0020461 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperkalemia 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN5 mondo_mondo_0010619_medgen_c0733682_omim_307800_orphanet_89936 Familial X-linked hypophosphatemic vitamin D refractory rickets MONDO:MONDO:0010619,MedGen:C0733682,OMIM:307800,Orphanet:89936 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN4 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 0 Seizure 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN4 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN3 mondo_mondo_0859188_medgen_c5561979_omim_619517 Neurodevelopmental disorder with seizures and brain abnormalities MONDO:MONDO:0859188,MedGen:C5561979,OMIM:619517 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_seizures_and_brain_abnormalities 17 low_record_burden_interpretation_limited low_record_burden_gene CLCN3 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene CLCN3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 17 low_record_burden_interpretation_limited low_record_burden_gene CLCN3 mondo_mondo_0020836_medgen_cn301178_omim_ps209850 Autism, susceptiblity to MONDO:MONDO:0020836,MedGen:CN301178,OMIM:PS209850 1 1 1.0000 condition_record_support_limited 20 0 0 Autism,_susceptiblity_to 17 low_record_burden_interpretation_limited low_record_burden_gene CLCN1 human_phenotype_ontology_hp_0003712_medgen_c2265792 Skeletal muscle hypertrophy Human_Phenotype_Ontology:HP:0003712,MedGen:C2265792 1 1 1.0000 condition_record_support_limited 20 0 1 Skeletal_muscle_hypertrophy 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 mondo_mondo_0021060_medgen_c5555857_orphanet_536391 RASopathy MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391 1 1 1.0000 condition_record_support_limited 20 0 1 RASopathy 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 1.0000 condition_record_support_limited 20 0 1 Myopathy 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 human_phenotype_ontology_hp_0003394_human_phenotype_ontology_hp_0009018_medgen_c0037763 Muscle spasm Human_Phenotype_Ontology:HP:0003394,Human_Phenotype_Ontology:HP:0009018,MedGen:C0037763 1 1 1.0000 condition_record_support_limited 20 0 1 Muscle_spasm 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 human_phenotype_ontology_hp_0002076_human_phenotype_ontology_hp_0007194_mondo_mondo_0005277_medgen_c0149931 Migraine Human_Phenotype_Ontology:HP:0002076,Human_Phenotype_Ontology:HP:0007194,MONDO:MONDO:0005277,MedGen:C0149931 1 1 1.0000 condition_record_support_limited 20 0 1 Migraine 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 mondo_mondo_0018868_medgen_c0023522_omim_250100_orphanet_512 Metachromatic leukodystrophy MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,Orphanet:512 1 1 1.0000 condition_record_support_limited 20 0 1 Metachromatic_leukodystrophy 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 human_phenotype_ontology_hp_0000747_human_phenotype_ontology_hp_0002081_human_phenotype_ontology_hp_0002354_medgen_c0233794 Memory impairment Human_Phenotype_Ontology:HP:0000747,Human_Phenotype_Ontology:HP:0002081,Human_Phenotype_Ontology:HP:0002354,MedGen:C0233794 1 1 1.0000 condition_record_support_limited 20 0 1 Memory_impairment 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 human_phenotype_ontology_hp_0002938_human_phenotype_ontology_hp_0002941_human_phenotype_ontology_hp_0004560_human_phenotype_ontology_hp_0004574_human_phenotype_ontology_hp_0004596_medgen_c1184923 Lumbar hyperlordosis Human_Phenotype_Ontology:HP:0002938,Human_Phenotype_Ontology:HP:0002941,Human_Phenotype_Ontology:HP:0004560,Human_Phenotype_Ontology:HP:0004574,Human_Phenotype_Ontology:HP:0004596,MedGen:C1184923 1 1 1.0000 condition_record_support_limited 20 0 1 Lumbar_hyperlordosis 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 human_phenotype_ontology_hp_0009763_medgen_c0030196 Limb pain Human_Phenotype_Ontology:HP:0009763,MedGen:C0030196 1 1 1.0000 condition_record_support_limited 20 0 1 Limb_pain 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 human_phenotype_ontology_hp_0000327_human_phenotype_ontology_hp_0004644_medgen_c0240310 Hypoplasia of the maxilla Human_Phenotype_Ontology:HP:0000327,Human_Phenotype_Ontology:HP:0004644,MedGen:C0240310 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplasia_of_the_maxilla 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 mondo_mondo_0042979_medgen_c3714580_omim_170400_orphanet_681 Hypokalemic periodic paralysis, type 1 MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681 1 1 1.0000 condition_record_support_limited 20 0 0 Hypokalemic_periodic_paralysis,_type_1 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 human_phenotype_ontology_hp_0007215_mondo_mondo_0008224_medgen_c0238357_omim_170500_orphanet_682 Hyperkalemic periodic paralysis Human_Phenotype_Ontology:HP:0007215,MONDO:MONDO:0008224,MedGen:C0238357,OMIM:170500,Orphanet:682 1 1 1.0000 condition_record_support_limited 20 0 0 Hyperkalemic_periodic_paralysis 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 human_phenotype_ontology_hp_0002178_human_phenotype_ontology_hp_0002547_human_phenotype_ontology_hp_0003445_human_phenotype_ontology_hp_0007279_medgen_c4021727 EMG: neuropathic changes Human_Phenotype_Ontology:HP:0002178,Human_Phenotype_Ontology:HP:0002547,Human_Phenotype_Ontology:HP:0003445,Human_Phenotype_Ontology:HP:0007279,MedGen:C4021727 1 1 1.0000 condition_record_support_limited 20 0 1 EMG:_neuropathic_changes 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 human_phenotype_ontology_hp_0003730_medgen_c4025576 EMG: myotonic runs Human_Phenotype_Ontology:HP:0003730,MedGen:C4025576 1 1 1.0000 condition_record_support_limited 20 0 1 EMG:_myotonic_runs 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 human_phenotype_ontology_hp_0003322_human_phenotype_ontology_hp_0003458_human_phenotype_ontology_hp_0003711_human_phenotype_ontology_hp_0009021_medgen_c4021726 EMG: myopathic abnormalities Human_Phenotype_Ontology:HP:0003322,Human_Phenotype_Ontology:HP:0003458,Human_Phenotype_Ontology:HP:0003711,Human_Phenotype_Ontology:HP:0009021,MedGen:C4021726 1 1 1.0000 condition_record_support_limited 20 0 1 EMG:_myopathic_abnormalities 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_palsy 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 clcn1_related_myotonia_congenita CLCN1-related myotonia congenita . 1 1 1.0000 condition_record_support_limited 20 0 1 CLCN1-related_myotonia_congenita 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 mondo_mondo_0019548_medgen_c5680178_orphanet_90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease MONDO:MONDO:0019548,MedGen:C5680178,Orphanet:90114 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_intermediate_Charcot-Marie-Tooth_disease 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCN1 human_phenotype_ontology_hp_0001771_human_phenotype_ontology_hp_0004711_human_phenotype_ontology_hp_0005031_human_phenotype_ontology_hp_0006430_medgen_c0410264 Achilles tendon contracture Human_Phenotype_Ontology:HP:0001771,Human_Phenotype_Ontology:HP:0004711,Human_Phenotype_Ontology:HP:0005031,Human_Phenotype_Ontology:HP:0006430,MedGen:C0410264 1 1 1.0000 condition_record_support_limited 20 0 1 Achilles_tendon_contracture 342 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CLCC1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene CLCC1 mondo_mondo_0012363_medgen_c1835927_omim_609913_orphanet_791 Retinitis pigmentosa 32 MONDO:MONDO:0012363,MedGen:C1835927,OMIM:609913,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa_32 1 low_record_burden_interpretation_limited low_record_burden_gene CLCC1 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 1 low_record_burden_interpretation_limited low_record_burden_gene CLASP1 rnu4atac_related_spliceosomopathies RNU4ATAC-related spliceosomopathies . 1 1 1.0000 condition_record_support_limited 20 0 1 RNU4ATAC-related_spliceosomopathies 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CKAP2L human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CKAP2L human_phenotype_ontology_hp_0000135_mondo_mondo_0002146_medgen_c0020619 Hypogonadism Human_Phenotype_Ontology:HP:0000135,MONDO:MONDO:0002146,MedGen:C0020619 1 1 1.0000 condition_record_support_limited 20 0 1 Hypogonadism 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CKAP2L ckap2l_related_disorder CKAP2L-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CKAP2L-related_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CIZ1 mondo_mondo_0002265_medgen_c0038273 Stereotypic movement disorder MONDO:MONDO:0002265,MedGen:C0038273 1 1 1.0000 condition_record_support_limited 20 0 1 Stereotypic_movement_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene CIZ1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 6 low_record_burden_interpretation_limited low_record_burden_gene CIZ1 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 6 low_record_burden_interpretation_limited low_record_burden_gene CIZ1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 6 low_record_burden_interpretation_limited low_record_burden_gene CIZ1 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 1 Epileptic_encephalopathy 6 low_record_burden_interpretation_limited low_record_burden_gene CIZ1 mondo_mondo_0957248_medgen_c5830459_omim_620352 Developmental and epileptic encephalopathy, 31B MONDO:MONDO:0957248,MedGen:C5830459,OMIM:620352 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_31B 6 low_record_burden_interpretation_limited low_record_burden_gene CIZ1 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 6 low_record_burden_interpretation_limited low_record_burden_gene CITED2 mondo_mondo_0013750_medgen_c3280790_omim_614433_orphanet_1478 Atrial septal defect 8 MONDO:MONDO:0013750,MedGen:C3280790,OMIM:614433,Orphanet:1478 1 1 1.0000 condition_record_support_limited 20 0 0 Atrial_septal_defect_8 1 low_record_burden_interpretation_limited low_record_burden_gene CINP human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 1 low_record_burden_interpretation_limited low_record_burden_gene CINP human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 1 low_record_burden_interpretation_limited low_record_burden_gene CINP human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene CILK1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene CILK1 mondo_mondo_0015461_medgen_c0036996_orphanet_1505 Short rib-polydactyly syndrome MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505 1 1 1.0000 condition_record_support_limited 20 0 0 Short_rib-polydactyly_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene CILK1 mondo_mondo_0060671_medgen_c4693613_omim_617924 Epilepsy, juvenile myoclonic, susceptibility to, 10 MONDO:MONDO:0060671,MedGen:C4693613,OMIM:617924 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy,_juvenile_myoclonic,_susceptibility_to,_10 6 low_record_burden_interpretation_limited low_record_burden_gene CILK1 mondo_mondo_0979883_medgen_cn379911_omim_621337 Cranioectodermal dysplasia 6 MONDO:MONDO:0979883,MedGen:CN379911,OMIM:621337 1 1 1.0000 condition_record_support_limited 20 0 1 Cranioectodermal_dysplasia_6 6 low_record_burden_interpretation_limited low_record_burden_gene CILK1 mondo_mondo_0009032_medgen_c4551571_omim_ps218330_orphanet_1515 Cranioectodermal dysplasia MONDO:MONDO:0009032,MedGen:C4551571,OMIM:PS218330,Orphanet:1515 1 1 1.0000 condition_record_support_limited 20 0 1 Cranioectodermal_dysplasia 6 low_record_burden_interpretation_limited low_record_burden_gene CIDEC mondo_mondo_0014098_medgen_c3808940_omim_615238_orphanet_435651 CIDEC-related familial partial lipodystrophy MONDO:MONDO:0014098,MedGen:C3808940,OMIM:615238,Orphanet:435651 1 1 1.0000 condition_record_support_limited 20 0 0 CIDEC-related_familial_partial_lipodystrophy 1 low_record_burden_interpretation_limited low_record_burden_gene CIC human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 75 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CIC marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 1 1 1.0000 condition_record_support_limited 20 0 1 Marfanoid_habitus_and_intellectual_disability 75 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CIC mondo_mondo_0007974_medgen_c1969562_omim_156200_orphanet_228402 Intellectual disability, autosomal dominant 1 MONDO:MONDO:0007974,MedGen:C1969562,OMIM:156200,Orphanet:228402 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_autosomal_dominant_1 75 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CIC cic_related_neurodevelopmental_disorders CIC-related neurodevelopmental disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 CIC-related_neurodevelopmental_disorders 75 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CIC mondo_mondo_0015802_medgen_c5680502_orphanet_178469 Autosomal dominant non-syndromic intellectual disability MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_non-syndromic_intellectual_disability 75 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CIC mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 75 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CIBAR1 human_phenotype_ontology_hp_0005696_mondo_mondo_0019673_medgen_c3887487_orphanet_93334 Postaxial polydactyly type A Human_Phenotype_Ontology:HP:0005696,MONDO:MONDO:0019673,MedGen:C3887487,Orphanet:93334 1 1 1.0000 condition_record_support_limited 20 0 1 Postaxial_polydactyly_type_A 3 low_record_burden_interpretation_limited low_record_burden_gene CIB2 mondo_mondo_0010168_medgen_c1568247_omim_276900_orphanet_231169_orphanet_886 Usher syndrome type 1 MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886 1 1 1.0000 condition_record_support_limited 20 0 1 Usher_syndrome_type_1 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CIB2 mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 Usher syndrome MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 1 1 1.0000 condition_record_support_limited 20 0 1 Usher_syndrome 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CIB2 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CIB2 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CIB2 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CIB2 cib2_related_disorder CIB2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CIB2-related_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CIAO1 mondo_mondo_0019056_mesh_d009468_medgen_c0027868_orphanet_68381 Neuromuscular disease MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381 1 1 1.0000 condition_record_support_limited 20 0 1 Neuromuscular_disease 3 low_record_burden_interpretation_limited low_record_burden_gene CHUK mondo_mondo_0013334_medgen_c3150891_omim_613630_orphanet_465824 Cocoon syndrome MONDO:MONDO:0013334,MedGen:C3150891,OMIM:613630,Orphanet:465824 1 1 1.0000 condition_record_support_limited 20 0 0 Cocoon_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene CHUK mondo_mondo_0859154_medgen_c5543445_omim_619339 Bartsocas-Papas syndrome 2 MONDO:MONDO:0859154,MedGen:C5543445,OMIM:619339 1 1 1.0000 condition_record_support_limited 20 0 0 Bartsocas-Papas_syndrome_2 6 low_record_burden_interpretation_limited low_record_burden_gene CHSY1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 7 low_record_burden_interpretation_limited low_record_burden_gene CHST6 medgen_c1691013 Macular corneal dystrophy, type II MedGen:C1691013 1 1 1.0000 condition_record_support_limited 20 0 1 Macular_corneal_dystrophy,_type_II 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHST6 chst6_related_disorder CHST6-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CHST6-related_disorder 53 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHST3 mondo_mondo_0009511_medgen_c3278404_omim_245600_orphanet_284139 Larsen-like syndrome, B3GAT3 type MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139 1 1 1.0000 condition_record_support_limited 20 0 1 Larsen-like_syndrome,_B3GAT3_type 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHST3 mondo_mondo_0007875_medgen_c0175778_omim_150250_orphanet_503 Larsen syndrome MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250,Orphanet:503 1 1 1.0000 condition_record_support_limited 20 0 0 Larsen_syndrome 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHST14 chst14_related_disorder CHST14-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CHST14-related_disorder 37 single_exon_hotspot_opportunity local_compact_architecture CHRNG human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Peripheral neuropathy Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 1.0000 condition_record_support_limited 20 0 1 Peripheral_neuropathy 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNG other_rare_neuromuscular_disorders Other rare neuromuscular disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Other_rare_neuromuscular_disorders 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNG human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_akinesia_deformation_sequence_1 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNG human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis_multiplex_congenita 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNG human_phenotype_ontology_hp_0001197_medgen_c4025797 Abnormality of prenatal development or birth Human_Phenotype_Ontology:HP:0001197,MedGen:C4025797 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_prenatal_development_or_birth 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNE medgen_c0751885_orphanet_590 Slow-Channel Congenital Myasthenia Syndrome MedGen:C0751885,Orphanet:590 1 1 1.0000 condition_record_support_limited 20 0 1 Slow-Channel_Congenital_Myasthenia_Syndrome 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNE human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNE human_phenotype_ontology_hp_0031165_medgen_c3281034 Multifocal seizures Human_Phenotype_Ontology:HP:0031165,MedGen:C3281034 1 1 1.0000 condition_record_support_limited 20 0 1 Multifocal_seizures 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNE mondo_mondo_0013367_medgen_c3150943_omim_613688_orphanet_101016_orphanet_768 Long QT syndrome 2 MONDO:MONDO:0013367,MedGen:C3150943,OMIM:613688,Orphanet:101016,Orphanet:768 1 1 1.0000 condition_record_support_limited 20 0 1 Long_QT_syndrome_2 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNE mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNE mondo_mondo_1040021_medgen_cn378141 Congenital myasthenic syndrome 4 MONDO:MONDO:1040021,MedGen:CN378141 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myasthenic_syndrome_4 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNE mondo_mondo_0011088_medgen_c2931107_omim_601462 Congenital myasthenic syndrome 1A MONDO:MONDO:0011088,MedGen:C2931107,OMIM:601462 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myasthenic_syndrome_1A 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRND human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_akinesia_deformation_sequence_1 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRND human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis_multiplex_congenita 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNB4 human_phenotype_ontology_hp_0006510_mondo_mondo_0005002_medgen_c0024117_omim_606963 Chronic obstructive pulmonary disease Human_Phenotype_Ontology:HP:0006510,MONDO:MONDO:0005002,MedGen:C0024117,OMIM:606963 1 1 1.0000 condition_record_support_limited 20 0 0 Chronic_obstructive_pulmonary_disease 3 low_record_burden_interpretation_limited low_record_burden_gene CHRNB2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 7 low_record_burden_interpretation_limited low_record_burden_gene CHRNB2 mondo_mondo_0010899_medgen_c1838049_omim_600513_orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy 1 MONDO:MONDO:0010899,MedGen:C1838049,OMIM:600513,Orphanet:98784 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_1 7 low_record_burden_interpretation_limited low_record_burden_gene CHRNA4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 8 low_record_burden_interpretation_limited low_record_burden_gene CHRNA3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 16 low_record_burden_interpretation_limited low_record_burden_gene CHRNA3 chrna3_related_disorder CHRNA3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CHRNA3-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene CHRNA2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene CHRNA1 medgen_c0751885_orphanet_590 Slow-Channel Congenital Myasthenia Syndrome MedGen:C0751885,Orphanet:590 1 1 1.0000 condition_record_support_limited 20 0 0 Slow-Channel_Congenital_Myasthenia_Syndrome 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNA1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNA1 human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 1.0000 condition_record_support_limited 20 0 0 Non-immune_hydrops_fetalis 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNA1 mondo_mondo_0019952_medgen_c0270960_omim_ps117000_orphanet_97245 Congenital myopathy MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myopathy 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNA1 mondo_mondo_0018940_mesh_d020294_medgen_c0751882_omim_ps601462_orphanet_590 Congenital myasthenic syndrome MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myasthenic_syndrome 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNA1 mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 Centronuclear myopathy MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 1 1 1.0000 condition_record_support_limited 20 0 1 Centronuclear_myopathy 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRNA1 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHRM1 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 1 See_cases 1 low_record_burden_interpretation_limited low_record_burden_gene CHRM1 chrm1_related_neurodevelopmental_disorder CHRM1-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CHRM1-related_neurodevelopmental_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene CHRDL1 mondo_mondo_0000942_medgen_c0010034 Corneal disorder MONDO:MONDO:0000942,MedGen:C0010034 1 1 1.0000 condition_record_support_limited 20 0 0 Corneal_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHP1 mondo_mondo_0032753_medgen_c5193100_omim_618438 Spastic ataxia 9, autosomal recessive MONDO:MONDO:0032753,MedGen:C5193100,OMIM:618438 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia_9,_autosomal_recessive 1 low_record_burden_interpretation_limited low_record_burden_gene CHN1 mondo_mondo_0008006_medgen_c0221060_omim_157900_orphanet_570 Oromandibular-limb hypogenesis spectrum MONDO:MONDO:0008006,MedGen:C0221060,OMIM:157900,Orphanet:570 1 1 1.0000 condition_record_support_limited 20 0 0 Oromandibular-limb_hypogenesis_spectrum 13 low_record_burden_interpretation_limited low_record_burden_gene CHN1 mondo_mondo_0014591_medgen_c4225363_omim_616331_orphanet_3107_orphanet_97360 Autosomal dominant Robinow syndrome 2 MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_Robinow_syndrome_2 13 low_record_burden_interpretation_limited low_record_burden_gene CHMP1A mondo_mondo_0020135_medgen_c1261175_omim_ps607596_orphanet_98523 Pontoneocerebellar hypoplasia MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523 1 1 1.0000 condition_record_support_limited 20 0 0 Pontoneocerebellar_hypoplasia 5 low_record_burden_interpretation_limited low_record_burden_gene CHM human_phenotype_ontology_hp_0000662_human_phenotype_ontology_hp_0007653_human_phenotype_ontology_hp_0007725_human_phenotype_ontology_hp_0007865_human_phenotype_ontology_hp_0007895_mondo_mondo_0004588_medgen_c0028077 Night blindness Human_Phenotype_Ontology:HP:0000662,Human_Phenotype_Ontology:HP:0007653,Human_Phenotype_Ontology:HP:0007725,Human_Phenotype_Ontology:HP:0007865,Human_Phenotype_Ontology:HP:0007895,MONDO:MONDO:0004588,MedGen:C0028077 1 1 1.0000 condition_record_support_limited 20 0 1 Night_blindness 314 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHM medgen_c4016478 Choroideremia, Salla type MedGen:C4016478 1 1 1.0000 condition_record_support_limited 20 0 1 Choroideremia,_Salla_type 314 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHM human_phenotype_ontology_hp_0000533_human_phenotype_ontology_hp_0001150_human_phenotype_ontology_hp_0007884_human_phenotype_ontology_hp_0007918_human_phenotype_ontology_hp_0007931_medgen_c4048273 Chorioretinal atrophy Human_Phenotype_Ontology:HP:0000533,Human_Phenotype_Ontology:HP:0001150,Human_Phenotype_Ontology:HP:0007884,Human_Phenotype_Ontology:HP:0007918,Human_Phenotype_Ontology:HP:0007931,MedGen:C4048273 1 1 1.0000 condition_record_support_limited 20 0 1 Chorioretinal_atrophy 314 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHM human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_eye 314 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHKB human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Muscular dystrophy Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 1 1 1.0000 condition_record_support_limited 20 0 0 Muscular_dystrophy 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHKB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHKB chkb_related_disorder CHKB-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CHKB-related_disorder 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHKA condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene CHFR condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene CHEK2 mondo_mondo_0006003_medgen_cn277893 Uterine corpus cancer MONDO:MONDO:0006003,MedGen:CN277893 1 1 1.0000 condition_record_support_limited 20 0 1 Uterine_corpus_cancer 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 tumor_predisposition_syndrome_4_breast_prostate_colorectal TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL . 1 1 1.0000 condition_record_support_limited 20 0 1 TUMOR_PREDISPOSITION_SYNDROME_4,_BREAST/PROSTATE/COLORECTAL 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 human_phenotype_ontology_hp_0100242_mondo_mondo_0005089_medgen_c1261473 Sarcoma Human_Phenotype_Ontology:HP:0100242,MONDO:MONDO:0005089,MedGen:C1261473 1 1 1.0000 condition_record_support_limited 20 0 1 Sarcoma 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 1 Premature_ovarian_failure 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Ovarian neoplasm Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 1 1 1.0000 condition_record_support_limited 20 0 1 Ovarian_neoplasm 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 human_phenotype_ontology_hp_0025318_mondo_mondo_0005140_medgen_c4721610 Ovarian carcinoma Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610 1 1 1.0000 condition_record_support_limited 20 0 1 Ovarian_carcinoma 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 human_phenotype_ontology_hp_0000115_human_phenotype_ontology_hp_0002667_mondo_mondo_0006058_mesh_d009396_medgen_c0027708_orphanet_654 Nephroblastoma Human_Phenotype_Ontology:HP:0000115,Human_Phenotype_Ontology:HP:0002667,MONDO:MONDO:0006058,MeSH:D009396,MedGen:C0027708,Orphanet:654 1 1 1.0000 condition_record_support_limited 20 0 0 Nephroblastoma 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 nice_approved_parp_inhibitor_treatment NICE approved PARP inhibitor treatment . 1 1 1.0000 condition_record_support_limited 20 0 1 NICE_approved_PARP_inhibitor_treatment 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 human_phenotype_ontology_hp_0002861_human_phenotype_ontology_hp_0002887_human_phenotype_ontology_hp_0006777_human_phenotype_ontology_hp_0007474_mondo_mondo_0005105_mesh_d008545_medgen_c0025202 Melanoma Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202 1 1 1.0000 condition_record_support_limited 20 0 1 Melanoma 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 Malignant lymphoma, large B-cell, diffuse MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 1 1 1.0000 condition_record_support_limited 20 0 1 Malignant_lymphoma,_large_B-cell,_diffuse 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 mondo_mondo_0007356_medgen_c2936783_omim_120435_orphanet_144 Lynch syndrome 1 MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144 1 1 1.0000 condition_record_support_limited 20 0 0 Lynch_syndrome_1 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 human_phenotype_ontology_hp_0100243_mondo_mondo_0005058_medgen_c0023269_orphanet_64720 Leiomyosarcoma Human_Phenotype_Ontology:HP:0100243,MONDO:MONDO:0005058,MedGen:C0023269,Orphanet:64720 1 1 1.0000 condition_record_support_limited 20 0 1 Leiomyosarcoma 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 medgen_c1135954 Incidental Discovery MedGen:C1135954 1 1 1.0000 condition_record_support_limited 20 0 1 Incidental_Discovery 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 mondo_mondo_0016248_medgen_c5679802 Familial ovarian cancer MONDO:MONDO:0016248,MedGen:C5679802 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_ovarian_cancer 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 mondo_mondo_0013988_medgen_c3554194_omim_614954 Congenital heart defects, multiple types, 3 MONDO:MONDO:0013988,MedGen:C3554194,OMIM:614954 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_heart_defects,_multiple_types,_3 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 mondo_mondo_0021079_medgen_c1368871 Childhood neoplasm MONDO:MONDO:0021079,MedGen:C1368871 1 1 1.0000 condition_record_support_limited 20 0 1 Childhood_neoplasm 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 mondo_mondo_0045024_medgen_cn377727 Cancer or benign tumor MONDO:MONDO:0045024,MedGen:CN377727 1 1 1.0000 condition_record_support_limited 20 0 1 Cancer_or_benign_tumor 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK2 human_phenotype_ontology_hp_0009592_mondo_mondo_0019781_mesh_d001254_medgen_c0004114 Astrocytoma Human_Phenotype_Ontology:HP:0009592,MONDO:MONDO:0019781,MeSH:D001254,MedGen:C0004114 1 1 1.0000 condition_record_support_limited 20 0 1 Astrocytoma 1025 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CHEK1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene CHEK1 medgen_c5680033_orphanet_399764 Male infertility due to gonadal dysgenesis or sperm disorder MedGen:C5680033,Orphanet:399764 1 1 1.0000 condition_record_support_limited 20 0 1 Male_infertility_due_to_gonadal_dysgenesis_or_sperm_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene CHD8 medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_intellectual_disability 212 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD8 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 212 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD8 marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 1 1 1.0000 condition_record_support_limited 20 0 0 Marfanoid_habitus_and_intellectual_disability 212 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD8 human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 0 Macrocephaly 212 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD8 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_disorder 212 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD8 chd8_associated_neurodevelopmental_syndrome CHD8-associated Neurodevelopmental syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 CHD8-associated_Neurodevelopmental_syndrome 212 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD8 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 212 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 mondo_mondo_0011518_medgen_c1854630_omim_605130_orphanet_319182 Wiedemann-Steiner syndrome MONDO:MONDO:0011518,MedGen:C1854630,OMIM:605130,Orphanet:319182 1 1 1.0000 condition_record_support_limited 20 0 0 Wiedemann-Steiner_syndrome 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 mondo_mondo_0012115_medgen_c1837461_omim_608765 Scoliosis, isolated, susceptibility to, 3 MONDO:MONDO:0012115,MedGen:C1837461,OMIM:608765 1 1 1.0000 condition_record_support_limited 20 0 0 Scoliosis,_isolated,_susceptibility_to,_3 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 1.0000 condition_record_support_limited 20 0 1 Scoliosis 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 human_phenotype_ontology_hp_0000480_human_phenotype_ontology_hp_0007808_medgen_c3540764 Retinal coloboma Human_Phenotype_Ontology:HP:0000480,Human_Phenotype_Ontology:HP:0007808,MedGen:C3540764 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_coloboma 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 mondo_mondo_0001561_medgen_c0034194 Pyloric stenosis MONDO:MONDO:0001561,MedGen:C0034194 1 1 1.0000 condition_record_support_limited 20 0 1 Pyloric_stenosis 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 human_phenotype_ontology_hp_0004935_medgen_c0265908 Pulmonary artery atresia Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908 1 1 1.0000 condition_record_support_limited 20 0 1 Pulmonary_artery_atresia 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 human_phenotype_ontology_hp_0001730_human_phenotype_ontology_hp_0008590_medgen_c1842138 Progressive hearing impairment Human_Phenotype_Ontology:HP:0001730,Human_Phenotype_Ontology:HP:0008590,MedGen:C1842138 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_hearing_impairment 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 human_phenotype_ontology_hp_0002370_medgen_c0563243 Poor coordination Human_Phenotype_Ontology:HP:0002370,MedGen:C0563243 1 1 1.0000 condition_record_support_limited 20 0 1 Poor_coordination 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Myopia Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 1 1 1.0000 condition_record_support_limited 20 0 1 Myopia 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 1 1 1.0000 condition_record_support_limited 20 0 1 Joubert_syndrome 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 mondo_mondo_0016764_medgen_c5679828_orphanet_2542 Isolated anophthalmia-microphthalmia syndrome MONDO:MONDO:0016764,MedGen:C5679828,Orphanet:2542 1 1 1.0000 condition_record_support_limited 20 0 1 Isolated_anophthalmia-microphthalmia_syndrome 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 human_phenotype_ontology_hp_0000612_mondo_mondo_0020356_medgen_c0240063_orphanet_98944 Iris coloboma Human_Phenotype_Ontology:HP:0000612,MONDO:MONDO:0020356,MedGen:C0240063,Orphanet:98944 1 1 1.0000 condition_record_support_limited 20 0 0 Iris_coloboma 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 human_phenotype_ontology_hp_0000821_human_phenotype_ontology_hp_0003222_human_phenotype_ontology_hp_0008203_mondo_mondo_0005420_medgen_c0020676 Hypothyroidism Human_Phenotype_Ontology:HP:0000821,Human_Phenotype_Ontology:HP:0003222,Human_Phenotype_Ontology:HP:0008203,MONDO:MONDO:0005420,MedGen:C0020676 1 1 1.0000 condition_record_support_limited 20 0 1 Hypothyroidism 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 human_phenotype_ontology_hp_0000044_human_phenotype_ontology_hp_0003335_human_phenotype_ontology_hp_0008224_mondo_mondo_0018555_medgen_c0271623_omim_ps147950_orphanet_432 Hypogonadotropic hypogonadism Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432 1 1 1.0000 condition_record_support_limited 20 0 0 Hypogonadotropic_hypogonadism 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 medgen_c3552136 HYPOGONADOTROPIC HYPOGONADISM 5 WITHOUT ANOSMIA MedGen:C3552136 1 1 1.0000 condition_record_support_limited 20 0 1 HYPOGONADOTROPIC_HYPOGONADISM_5_WITHOUT_ANOSMIA 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 human_phenotype_ontology_hp_0000258_human_phenotype_ontology_hp_0000268_human_phenotype_ontology_hp_0005440_medgen_c0221358 Dolichocephaly Human_Phenotype_Ontology:HP:0000258,Human_Phenotype_Ontology:HP:0000268,Human_Phenotype_Ontology:HP:0005440,MedGen:C0221358 1 1 1.0000 condition_record_support_limited 20 0 1 Dolichocephaly 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 mondo_mondo_0009061_medgen_c0010674_omim_219700_orphanet_586 Cystic fibrosis MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586 1 1 1.0000 condition_record_support_limited 20 0 1 Cystic_fibrosis 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 medgen_c3805326 Congenital heart disease (variable) MedGen:C3805326 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_heart_disease_(variable) 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 chromatinopathy Chromatinopathy . 1 1 1.0000 condition_record_support_limited 20 0 0 Chromatinopathy 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 human_phenotype_ontology_hp_0000567_human_phenotype_ontology_hp_0000611_human_phenotype_ontology_hp_0007718_human_phenotype_ontology_hp_0007784_medgen_c0240896 Chorioretinal coloboma Human_Phenotype_Ontology:HP:0000567,Human_Phenotype_Ontology:HP:0000611,Human_Phenotype_Ontology:HP:0007718,Human_Phenotype_Ontology:HP:0007784,MedGen:C0240896 1 1 1.0000 condition_record_support_limited 20 0 1 Chorioretinal_coloboma 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 human_phenotype_ontology_hp_0000416_human_phenotype_ontology_hp_0000453_human_phenotype_ontology_hp_0004496_human_phenotype_ontology_hp_0004503_mondo_mondo_0012155_medgen_c0008297_orphanet_137914 Choanal atresia Human_Phenotype_Ontology:HP:0000416,Human_Phenotype_Ontology:HP:0000453,Human_Phenotype_Ontology:HP:0004496,Human_Phenotype_Ontology:HP:0004503,MONDO:MONDO:0012155,MedGen:C0008297,Orphanet:137914 1 1 1.0000 condition_record_support_limited 20 0 1 Choanal_atresia 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 chd7_disorder CHD7 disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CHD7_disorder 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 human_phenotype_ontology_hp_0001630_human_phenotype_ontology_hp_0001631_mondo_mondo_0006664_medgen_c0018817_omim_ps108800_orphanet_1478 Atrial septal defect Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478 1 1 1.0000 condition_record_support_limited 20 0 1 Atrial_septal_defect 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD7 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 829 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD5 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 39 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD5 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 39 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD5 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 39 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 39 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD5 chd5_related_disorder CHD5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CHD5-related_disorder 39 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD4 medgen_c0235820 Neonatal encephalopathy MedGen:C0235820 1 1 1.0000 condition_record_support_limited 20 0 0 Neonatal_encephalopathy 69 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD3 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 122 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD3 marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 1 1 1.0000 condition_record_support_limited 20 0 1 Marfanoid_habitus_and_intellectual_disability 122 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD3 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 122 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD2 speech_and_developmental_delay Speech and developmental delay . 1 1 1.0000 condition_record_support_limited 20 0 0 Speech_and_developmental_delay 368 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD2 mondo_mondo_0014946_medgen_c4310688_omim_617159_orphanet_653712 Sifrim-Hitz-Weiss syndrome MONDO:MONDO:0014946,MedGen:C4310688,OMIM:617159,Orphanet:653712 1 1 1.0000 condition_record_support_limited 20 0 0 Sifrim-Hitz-Weiss_syndrome 368 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 368 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 368 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD2 mondo_mondo_0016532_medgen_c0238111_orphanet_2382 Lennox-Gastaut syndrome MONDO:MONDO:0016532,MedGen:C0238111,Orphanet:2382 1 1 1.0000 condition_record_support_limited 20 0 0 Lennox-Gastaut_syndrome 368 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD2 chd2_related_neurodevelopmental_disorder CHD2-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CHD2-related_neurodevelopmental_disorder 368 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD2 human_phenotype_ontology_hp_0000729_medgen_c0856975 Autistic behavior Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 1.0000 condition_record_support_limited 20 0 1 Autistic_behavior 368 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHD2 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 368 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CHCHD4 human_phenotype_ontology_hp_0003128_human_phenotype_ontology_hp_0003255_human_phenotype_ontology_hp_0005960_mondo_mondo_0006040_medgen_c0001125 Lactic acidosis Human_Phenotype_Ontology:HP:0003128,Human_Phenotype_Ontology:HP:0003255,Human_Phenotype_Ontology:HP:0005960,MONDO:MONDO:0006040,MedGen:C0001125 1 1 1.0000 condition_record_support_limited 20 0 1 Lactic_acidosis 1 low_record_burden_interpretation_limited low_record_burden_gene CHCHD4 human_phenotype_ontology_hp_0001943_human_phenotype_ontology_hp_0003356_mondo_mondo_0004946_medgen_c0020615 Hypoglycemia Human_Phenotype_Ontology:HP:0001943,Human_Phenotype_Ontology:HP:0003356,MONDO:MONDO:0004946,MedGen:C0020615 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoglycemia 1 low_record_burden_interpretation_limited low_record_burden_gene CHCHD4 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene CHCHD4 human_phenotype_ontology_hp_0001511_human_phenotype_ontology_hp_0001515_human_phenotype_ontology_hp_0008862_human_phenotype_ontology_hp_0008892_human_phenotype_ontology_hp_0008931_mondo_mondo_0005030_medgen_c0015934 Fetal growth restriction Human_Phenotype_Ontology:HP:0001511,Human_Phenotype_Ontology:HP:0001515,Human_Phenotype_Ontology:HP:0008862,Human_Phenotype_Ontology:HP:0008892,Human_Phenotype_Ontology:HP:0008931,MONDO:MONDO:0005030,MedGen:C0015934 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_growth_restriction 1 low_record_burden_interpretation_limited low_record_burden_gene CHCHD4 human_phenotype_ontology_hp_0001298_medgen_c0085584 Encephalopathy Human_Phenotype_Ontology:HP:0001298,MedGen:C0085584 1 1 1.0000 condition_record_support_limited 20 0 1 Encephalopathy 1 low_record_burden_interpretation_limited low_record_burden_gene CHCHD4 human_phenotype_ontology_hp_0001410_human_phenotype_ontology_hp_0004393_human_phenotype_ontology_hp_0005228_human_phenotype_ontology_hp_0006570_medgen_c0232744 Decreased liver function Human_Phenotype_Ontology:HP:0001410,Human_Phenotype_Ontology:HP:0004393,Human_Phenotype_Ontology:HP:0005228,Human_Phenotype_Ontology:HP:0006570,MedGen:C0232744 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_liver_function 1 low_record_burden_interpretation_limited low_record_burden_gene CHCHD4 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_morphology 1 low_record_burden_interpretation_limited low_record_burden_gene CHCHD4 human_phenotype_ontology_hp_0025045_medgen_c4476564 Abnormal brain lactate level by MRS Human_Phenotype_Ontology:HP:0025045,MedGen:C4476564 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_lactate_level_by_MRS 1 low_record_burden_interpretation_limited low_record_burden_gene CHCHD2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene CHAT mondo_mondo_0014983_medgen_c4310654_omim_617239 Congenital myasthenic syndrome 21 MONDO:MONDO:0014983,MedGen:C4310654,OMIM:617239 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_myasthenic_syndrome_21 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHAT human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHAMP1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CHAF1B human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene CHAF1B human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene CHAF1B human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Attention deficit hyperactivity disorder Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 1.0000 condition_record_support_limited 20 0 1 Attention_deficit_hyperactivity_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene CHAF1A condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene CGNL1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene CFTR ivacaftor_tezacaftor_response_efficacy ivacaftor / tezacaftor response - Efficacy . 1 1 1.0000 condition_record_support_limited 20 0 1 ivacaftor_/_tezacaftor_response_-_Efficacy 1471 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFTR ivacaftor_lumacaftor_response_efficacy ivacaftor / lumacaftor response - Efficacy MedGen:CN322746 1 1 1.0000 condition_record_support_limited 20 0 1 ivacaftor_/_lumacaftor_response_-_Efficacy 1471 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFTR medgen_c4016791 Sweat chloride elevation without cystic fibrosis MedGen:C4016791 1 1 1.0000 condition_record_support_limited 20 0 1 Sweat_chloride_elevation_without_cystic_fibrosis 1471 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFTR mondo_mondo_0010767_medgen_c1839071_omim_415000_orphanet_1646 Spermatogenic failure, Y-linked, 2 MONDO:MONDO:0010767,MedGen:C1839071,OMIM:415000,Orphanet:1646 1 1 1.0000 condition_record_support_limited 20 0 1 Spermatogenic_failure,_Y-linked,_2 1471 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFTR human_phenotype_ontology_hp_0100027_medgen_c4551632 Recurrent pancreatitis Human_Phenotype_Ontology:HP:0100027,MedGen:C4551632 1 1 1.0000 condition_record_support_limited 20 0 1 Recurrent_pancreatitis 1471 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFTR mondo_mondo_0011713_medgen_c1838547_omim_606719_orphanet_404560 Melanoma-pancreatic cancer syndrome MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719,Orphanet:404560 1 1 1.0000 condition_record_support_limited 20 0 1 Melanoma-pancreatic_cancer_syndrome 1471 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFTR mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 1471 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFTR mondo_mondo_0018630_medgen_c1333990_omim_ps120435_orphanet_443909 Hereditary nonpolyposis colon cancer MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:443909 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_nonpolyposis_colon_cancer 1471 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFTR human_phenotype_ontology_hp_0005205_human_phenotype_ontology_hp_0010449_human_phenotype_ontology_hp_0100867_medgen_c0238093 Duodenal stenosis Human_Phenotype_Ontology:HP:0005205,Human_Phenotype_Ontology:HP:0010449,Human_Phenotype_Ontology:HP:0100867,MedGen:C0238093 1 1 1.0000 condition_record_support_limited 20 0 1 Duodenal_stenosis 1471 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFTR medgen_c4017631 Bronchiectasis with or without elevated sweat chloride 1, modifier of MedGen:C4017631 1 1 1.0000 condition_record_support_limited 20 0 1 Bronchiectasis_with_or_without_elevated_sweat_chloride_1,_modifier_of 1471 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFTR human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 1471 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFP medgen_c1839456 Properdin deficiency, type III MedGen:C1839456 1 1 1.0000 condition_record_support_limited 20 0 0 Properdin_deficiency,_type_III 8 low_record_burden_interpretation_limited low_record_burden_gene CFL2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene CFL2 cfl2_related_disorder CFL2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CFL2-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene CFHR5 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene CFHR3 mondo_mondo_0009335_medgen_c2749604_omim_235400_orphanet_2134_orphanet_90038 Hemolytic uremic syndrome, atypical, susceptibility to, 1 MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038 1 1 1.0000 condition_record_support_limited 20 0 0 Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1 1 low_record_burden_interpretation_limited low_record_burden_gene CFHR1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene CFD elane_related_disorder ELANE-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ELANE-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene CFB condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 13 low_record_burden_interpretation_limited low_record_burden_gene CFB mondo_mondo_0014255_medgen_c3809950_omim_615561 Complement factor b deficiency MONDO:MONDO:0014255,MedGen:C3809950,OMIM:615561 1 1 1.0000 condition_record_support_limited 20 0 0 Complement_factor_b_deficiency 13 low_record_burden_interpretation_limited low_record_burden_gene CFB cfb_related_disorder CFB-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CFB-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene CFAP91 mondo_mondo_0018394_medgen_c4706677_orphanet_399808 Male infertility with teratozoospermia due to single gene mutation MONDO:MONDO:0018394,MedGen:C4706677,Orphanet:399808 1 1 1.0000 condition_record_support_limited 20 0 1 Male_infertility_with_teratozoospermia_due_to_single_gene_mutation 2 low_record_burden_interpretation_limited low_record_burden_gene CFAP74 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene CFAP70 mondo_mondo_0032863_medgen_c5231455_omim_618670 Spermatogenic failure 41 MONDO:MONDO:0032863,MedGen:C5231455,OMIM:618670 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_41 1 low_record_burden_interpretation_limited low_record_burden_gene CFAP69 susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 6 low_record_burden_interpretation_limited low_record_burden_gene CFAP69 medgen_c0403811_orphanet_276234 Non-syndromic male infertility due to sperm motility disorder MedGen:C0403811,Orphanet:276234 1 1 1.0000 condition_record_support_limited 20 0 0 Non-syndromic_male_infertility_due_to_sperm_motility_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene CFAP65 susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 8 low_record_burden_interpretation_limited low_record_burden_gene CFAP65 cfap65_related_disorder CFAP65-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CFAP65-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene CFAP57 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene CFAP57 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_ciliary_dyskinesia 2 low_record_burden_interpretation_limited low_record_burden_gene CFAP54 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene CFAP54 mondo_mondo_0100607_medgen_c6012704_omim_621125 Ciliary dyskinesia, primary, 54 MONDO:MONDO:0100607,MedGen:C6012704,OMIM:621125 1 1 1.0000 condition_record_support_limited 20 0 1 Ciliary_dyskinesia,_primary,_54 7 low_record_burden_interpretation_limited low_record_burden_gene CFAP53 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene CFAP53 human_phenotype_ontology_hp_0001651_mondo_mondo_0015661_medgen_c0011813_orphanet_1666 Dextrocardia Human_Phenotype_Ontology:HP:0001651,MONDO:MONDO:0015661,MedGen:C0011813,Orphanet:1666 1 1 1.0000 condition_record_support_limited 20 0 0 Dextrocardia 12 low_record_burden_interpretation_limited low_record_burden_gene CFAP53 cfap53_related_disorder CFAP53-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CFAP53-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene CFAP52 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene CFAP52 human_phenotype_ontology_hp_0001696_mondo_mondo_0010029_medgen_c4551493_orphanet_101063 Situs inversus Human_Phenotype_Ontology:HP:0001696,MONDO:MONDO:0010029,MedGen:C4551493,Orphanet:101063 1 1 1.0000 condition_record_support_limited 20 0 0 Situs_inversus 4 low_record_burden_interpretation_limited low_record_burden_gene CFAP47 mondo_mondo_0025354_medgen_c5542347_omim_301059 Spermatogenic failure, X-linked, 3 MONDO:MONDO:0025354,MedGen:C5542347,OMIM:301059 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure,_X-linked,_3 1 low_record_burden_interpretation_limited low_record_burden_gene CFAP43 human_phenotype_ontology_hp_0012207_medgen_c4082176 Reduced sperm motility Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_sperm_motility 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP43 mondo_mondo_0001913_mesh_d009845_medgen_c0028960 Oligospermia MONDO:MONDO:0001913,MeSH:D009845,MedGen:C0028960 1 1 1.0000 condition_record_support_limited 20 0 1 Oligospermia 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP43 cfap43_related_disorder CFAP43-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CFAP43-related_disorder 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP43 human_phenotype_ontology_hp_0012864_medgen_c0403824 Abnormal sperm morphology Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_sperm_morphology 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP418 medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_retinitis_pigmentosa 26 compact_adjacent_exon_block_opportunity local_compact_architecture CFAP410 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP410 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 0 Leber_congenital_amaurosis 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP410 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 0 Cone-rod_dystrophy 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP410 mondo_mondo_0000455_medgen_c0730290_orphanet_1871 Cone dystrophy MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 1.0000 condition_record_support_limited 20 0 1 Cone_dystrophy 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP300 human_phenotype_ontology_hp_0012265_mondo_mondo_0016575_medgen_c0008780_omim_ps244400_orphanet_244 Primary ciliary dyskinesia Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_ciliary_dyskinesia 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP300 human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Heterotaxy Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 1 1 1.0000 condition_record_support_limited 20 0 0 Heterotaxy 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CFAP298 human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Heterotaxy Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 1 1 1.0000 condition_record_support_limited 20 0 0 Heterotaxy 12 low_record_burden_interpretation_limited low_record_burden_gene CFAP251 multiple_morphologic_abnormalities_of_the_sperm_flagellum multiple morphologic abnormalities of the sperm flagellum . 1 1 1.0000 condition_record_support_limited 20 0 1 multiple_morphologic_abnormalities_of_the_sperm_flagellum 10 low_record_burden_interpretation_limited low_record_burden_gene CFAP251 dysplasia_of_the_mitochondrial_sheath dysplasia of the mitochondrial sheath . 1 1 1.0000 condition_record_support_limited 20 0 1 dysplasia_of_the_mitochondrial_sheath 10 low_record_burden_interpretation_limited low_record_burden_gene CFAP251 mondo_mondo_0054615_medgen_c4539783_omim_617576 Spermatogenic failure 18 MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576 1 1 1.0000 condition_record_support_limited 20 0 1 Spermatogenic_failure_18 10 low_record_burden_interpretation_limited low_record_burden_gene CFAP251 human_phenotype_ontology_hp_0012207_medgen_c4082176 Reduced sperm motility Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_sperm_motility 10 low_record_burden_interpretation_limited low_record_burden_gene CFAP251 cfap251_related_disorder CFAP251-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CFAP251-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene CFAP206 mondo_mondo_0980708_medgen_cn380056_omim_621387 Spermatogenic failure 102 MONDO:MONDO:0980708,MedGen:CN380056,OMIM:621387 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_102 2 low_record_burden_interpretation_limited low_record_burden_gene CFAP206 human_phenotype_ontology_hp_0012868_medgen_c4022699 Abnormal sperm tail morphology Human_Phenotype_Ontology:HP:0012868,MedGen:C4022699 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_sperm_tail_morphology 2 low_record_burden_interpretation_limited low_record_burden_gene CFAP126 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene CFAP126 mondo_mondo_0011544_medgen_c1854336_omim_605373_orphanet_29072 Pheochromocytoma/paraganglioma syndrome 3 MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373,Orphanet:29072 1 1 1.0000 condition_record_support_limited 20 0 0 Pheochromocytoma/paraganglioma_syndrome_3 2 low_record_burden_interpretation_limited low_record_burden_gene CETP condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene CETP mondo_mondo_0013552_medgen_c3279743_omim_614067_orphanet_280763 Hereditary spastic paraplegia 52 MONDO:MONDO:0013552,MedGen:C3279743,OMIM:614067,Orphanet:280763 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia_52 10 low_record_burden_interpretation_limited low_record_burden_gene CETP mondo_mondo_0007744_medgen_c3875011 Cholesterol-ester transfer protein deficiency MONDO:MONDO:0007744,MedGen:C3875011 1 1 1.0000 condition_record_support_limited 20 0 0 Cholesterol-ester_transfer_protein_deficiency 10 low_record_burden_interpretation_limited low_record_burden_gene CETP cetp_related_disorder CETP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CETP-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene CERT1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 13 low_record_burden_interpretation_limited low_record_burden_gene CERS3 ichthyosis_and_erythrokeratoderma Ichthyosis and erythrokeratoderma . 1 1 1.0000 condition_record_support_limited 20 0 0 Ichthyosis_and_erythrokeratoderma 19 low_record_burden_interpretation_limited low_record_burden_gene CERS3 human_phenotype_ontology_hp_0000955_human_phenotype_ontology_hp_0007547_human_phenotype_ontology_hp_0008064_mondo_mondo_0019269_medgen_c0020757_orphanet_79354 Ichthyosis Human_Phenotype_Ontology:HP:0000955,Human_Phenotype_Ontology:HP:0007547,Human_Phenotype_Ontology:HP:0008064,MONDO:MONDO:0019269,MedGen:C0020757,Orphanet:79354 1 1 1.0000 condition_record_support_limited 20 0 1 Ichthyosis 19 low_record_burden_interpretation_limited low_record_burden_gene CERS1 mondo_mondo_0018677_medgen_c3178805_omim_ps306955_orphanet_450 Visceral heterotaxy MONDO:MONDO:0018677,MedGen:C3178805,OMIM:PS306955,Orphanet:450 1 1 1.0000 condition_record_support_limited 20 0 0 Visceral_heterotaxy 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CERS1 human_phenotype_ontology_hp_0001669_mondo_mondo_0000153_medgen_c0040761_orphanet_216675 Transposition of the great arteries Human_Phenotype_Ontology:HP:0001669,MONDO:MONDO:0000153,MedGen:C0040761,Orphanet:216675 1 1 1.0000 condition_record_support_limited 20 0 1 Transposition_of_the_great_arteries 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CERS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CERS1 human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Heterotaxy Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 1 1 1.0000 condition_record_support_limited 20 0 1 Heterotaxy 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CERS1 human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 1.0000 condition_record_support_limited 20 0 1 Heart,_malformation_of 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CERS1 gdf1_related_disorder GDF1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GDF1-related_disorder 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CERS1 gdf1_related_disorders GDF1-RELATED DISORDERS . 1 1 1.0000 condition_record_support_limited 20 0 1 GDF1-RELATED_DISORDERS 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CERS1 mondo_mondo_0000119_medgen_cn377732 Congenital heart defects, multiple types MONDO:MONDO:0000119,MedGen:CN377732 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_heart_defects,_multiple_types 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CERKL mondo_mondo_0019353_medgen_c0271093_omim_ps248200_orphanet_827 Stargardt disease MONDO:MONDO:0019353,MedGen:C0271093,OMIM:PS248200,Orphanet:827 1 1 1.0000 condition_record_support_limited 20 0 1 Stargardt_disease 202 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CERKL human_phenotype_ontology_hp_0007537_medgen_c1849186 Severe photosensitivity Human_Phenotype_Ontology:HP:0007537,MedGen:C1849186 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_photosensitivity 202 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CERKL human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 202 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CERKL human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 1.0000 condition_record_support_limited 20 0 1 Macular_dystrophy 202 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CERKL mondo_mondo_0800401_medgen_cn322607 CERKL-related retinopathy MONDO:MONDO:0800401,MedGen:CN322607 1 1 1.0000 condition_record_support_limited 20 0 1 CERKL-related_retinopathy 202 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CERKL cerkl_related_disorder CERKL-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CERKL-related_disorder 202 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CERKL human_phenotype_ontology_hp_0007830_medgen_c4024790 Adult-onset night blindness Human_Phenotype_Ontology:HP:0007830,MedGen:C4024790 1 1 1.0000 condition_record_support_limited 20 0 1 Adult-onset_night_blindness 202 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP97 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene CEP97 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene CEP85L human_phenotype_ontology_hp_0006805_human_phenotype_ontology_hp_0006807_human_phenotype_ontology_hp_0007074_human_phenotype_ontology_hp_0200009_human_phenotype_ontology_hp_0200010_medgen_c1835194 Thick corpus callosum Human_Phenotype_Ontology:HP:0006805,Human_Phenotype_Ontology:HP:0006807,Human_Phenotype_Ontology:HP:0007074,Human_Phenotype_Ontology:HP:0200009,Human_Phenotype_Ontology:HP:0200010,MedGen:C1835194 1 1 1.0000 condition_record_support_limited 20 0 1 Thick_corpus_callosum 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP85L efo_the_experimental_factor_ontology_efo_0004278_human_phenotype_ontology_hp_0001645_human_phenotype_ontology_hp_0005161_mesh_d016757_medgen_c0085298 Sudden cardiac death EFO:_The_Experimental_Factor_Ontology:EFO_0004278,Human_Phenotype_Ontology:HP:0001645,Human_Phenotype_Ontology:HP:0005161,MeSH:D016757,MedGen:C0085298 1 1 1.0000 condition_record_support_limited 20 0 1 Sudden_cardiac_death 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP85L efo_the_experimental_factor_ontology_efo_0005303_mesh_d013398_medgen_c0038644_omim_272120 SUDDEN INFANT DEATH SYNDROME EFO:_The_Experimental_Factor_Ontology:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120 1 1 1.0000 condition_record_support_limited 20 0 1 SUDDEN_INFANT_DEATH_SYNDROME 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP85L pln_related_disorder PLN-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 PLN-related_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP85L pln_related_cardiomyopathy PLN-related cardiomyopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 PLN-related_cardiomyopathy 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP85L mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP85L mondo_mondo_0000591_medgen_cn305117 Intrinsic cardiomyopathy MONDO:MONDO:0000591,MedGen:CN305117 1 1 1.0000 condition_record_support_limited 20 0 1 Intrinsic_cardiomyopathy 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP85L human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrophic_cardiomyopathy 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP85L human_phenotype_ontology_hp_0001695_mondo_mondo_0000745_medgen_c0018790 Cardiac arrest Human_Phenotype_Ontology:HP:0001695,MONDO:MONDO:0000745,MedGen:C0018790 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiac_arrest 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP85L mondo_mondo_0012180_medgen_c1836906_omim_609040 Arrhythmogenic right ventricular dysplasia 9 MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040 1 1 1.0000 condition_record_support_limited 20 0 1 Arrhythmogenic_right_ventricular_dysplasia_9 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP83 human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Nephronophthisis Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 1 1 1.0000 condition_record_support_limited 20 0 1 Nephronophthisis 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP83 mondo_mondo_0005308_medgen_c4277690_orphanet_363250 Ciliopathy MONDO:MONDO:0005308,MedGen:C4277690,Orphanet:363250 1 1 1.0000 condition_record_support_limited 20 0 0 Ciliopathy 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP78 mondo_mondo_0014980_medgen_cn263092_omim_ps617236 Cone-rod dystrophy and hearing loss MONDO:MONDO:0014980,MedGen:CN263092,OMIM:PS617236 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy_and_hearing_loss 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP76 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 13 low_record_burden_interpretation_limited low_record_burden_gene CEP63 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP63 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP57 mondo_mondo_0009759_medgen_c1850343_omim_257300_orphanet_1052 Mosaic variegated aneuploidy syndrome 1 MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300,Orphanet:1052 1 1 1.0000 condition_record_support_limited 20 0 1 Mosaic_variegated_aneuploidy_syndrome_1 19 low_record_burden_interpretation_limited low_record_burden_gene CEP57 mondo_mondo_0000141_medgen_c4551972_omim_ps257300_orphanet_1052 Mosaic variegated aneuploidy syndrome MONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300,Orphanet:1052 1 1 1.0000 condition_record_support_limited 20 0 0 Mosaic_variegated_aneuploidy_syndrome 19 low_record_burden_interpretation_limited low_record_burden_gene CEP55 human_phenotype_ontology_hp_0001197_medgen_c4025797 Abnormality of prenatal development or birth Human_Phenotype_Ontology:HP:0001197,MedGen:C4025797 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_prenatal_development_or_birth 12 low_record_burden_interpretation_limited low_record_burden_gene CEP41 familial_autism_spectrum_disorder Familial Autism Spectrum Disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_Autism_Spectrum_Disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP41 cep41_related_disorder CEP41-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CEP41-related_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP290 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_ataxia 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 mondo_mondo_0009962_medgen_c4551559_omim_266900_orphanet_3156 Senior-Loken syndrome 1 MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900,Orphanet:3156 1 1 1.0000 condition_record_support_limited 20 0 1 Senior-Loken_syndrome_1 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 mondo_mondo_0017842_medgen_c0403553_omim_ps266900_orphanet_3156 Renal dysplasia and retinal aplasia MONDO:MONDO:0017842,MedGen:C0403553,OMIM:PS266900,Orphanet:3156 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_dysplasia_and_retinal_aplasia 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0000662_human_phenotype_ontology_hp_0007653_human_phenotype_ontology_hp_0007725_human_phenotype_ontology_hp_0007865_human_phenotype_ontology_hp_0007895_mondo_mondo_0004588_medgen_c0028077 Night blindness Human_Phenotype_Ontology:HP:0000662,Human_Phenotype_Ontology:HP:0007653,Human_Phenotype_Ontology:HP:0007725,Human_Phenotype_Ontology:HP:0007865,Human_Phenotype_Ontology:HP:0007895,MONDO:MONDO:0004588,MedGen:C0028077 1 1 1.0000 condition_record_support_limited 20 0 1 Night_blindness 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Micrognathia Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 1.0000 condition_record_support_limited 20 0 1 Micrognathia 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0000112_mondo_mondo_0005240_medgen_c0022658 Kidney disorder Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658 1 1 1.0000 condition_record_support_limited 20 0 1 Kidney_disorder 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 1 1 1.0000 condition_record_support_limited 20 0 0 Joubert_syndrome_and_related_disorders 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 mondo_mondo_0012118_medgen_c2931010_omim_608779_orphanet_79333 COG7 congenital disorder of glycosylation MONDO:MONDO:0012118,MedGen:C2931010,OMIM:608779,Orphanet:79333 1 1 1.0000 condition_record_support_limited 20 0 1 COG7_congenital_disorder_of_glycosylation 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 cep20_related_disorder CEP20-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CEP20-related_disorder 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 1.0000 condition_record_support_limited 20 0 1 Bardet-Biedl_syndrome 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP290 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 949 large_gene_or_donor_burden_stress_case donor_burden_stress CEP250 mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 Usher syndrome MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 1 1 1.0000 condition_record_support_limited 20 0 1 Usher_syndrome 102 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CEP250 monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 0 Monogenic_hearing_loss 102 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CEP19 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 1.0000 condition_record_support_limited 20 0 0 Bardet-Biedl_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene CEP164 mondo_mondo_0017842_medgen_c0403553_omim_ps266900_orphanet_3156 Renal dysplasia and retinal aplasia MONDO:MONDO:0017842,MedGen:C0403553,OMIM:PS266900,Orphanet:3156 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_dysplasia_and_retinal_aplasia 136 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP152 mondo_mondo_0019342_medgen_c0265202_omim_ps210600_orphanet_324761_orphanet_808 Seckel syndrome MONDO:MONDO:0019342,MedGen:C0265202,OMIM:PS210600,Orphanet:324761,Orphanet:808 1 1 1.0000 condition_record_support_limited 20 0 1 Seckel_syndrome 142 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CEP152 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 142 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CEP128 mondo_mondo_0010142_medgen_c3493776_omim_275200_orphanet_90673 Hypothyroidism due to TSH receptor mutations MONDO:MONDO:0010142,MedGen:C3493776,OMIM:275200,Orphanet:90673 1 1 1.0000 condition_record_support_limited 20 0 0 Hypothyroidism_due_to_TSH_receptor_mutations 6 low_record_burden_interpretation_limited low_record_burden_gene CEP120 mondo_mondo_0009892_medgen_c1837915_omim_263400_orphanet_238557 Chuvash polycythemia MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557 1 1 1.0000 condition_record_support_limited 20 0 1 Chuvash_polycythemia 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP104 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP104 human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 1.0000 condition_record_support_limited 20 0 1 Dystonic_disorder 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP104 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP104 autosomal_recessive_cep104_related_disorders Autosomal recessive CEP104-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_CEP104-related_disorders 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CEP104 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CENPT mondo_mondo_0032875_medgen_c5231467_omim_618702 Short stature and microcephaly with genital anomalies MONDO:MONDO:0032875,MedGen:C5231467,OMIM:618702 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature_and_microcephaly_with_genital_anomalies 2 low_record_burden_interpretation_limited low_record_burden_gene CENPT mondo_mondo_0975798_medgen_c5975387_omim_620940 Methylmalonic aciduria and homocystinuria, cb1L type MONDO:MONDO:0975798,MedGen:C5975387,OMIM:620940 1 1 1.0000 condition_record_support_limited 20 0 1 Methylmalonic_aciduria_and_homocystinuria,_cb1L_type 2 low_record_burden_interpretation_limited low_record_burden_gene CENPT mondo_mondo_0010657_medgen_c0796208_omim_309541_orphanet_369962 Methylmalonic acidemia with homocystinuria, type cblX MONDO:MONDO:0010657,MedGen:C0796208,OMIM:309541,Orphanet:369962 1 1 1.0000 condition_record_support_limited 20 0 1 Methylmalonic_acidemia_with_homocystinuria,_type_cblX 2 low_record_burden_interpretation_limited low_record_burden_gene CENPT disorders_of_intracellular_cobalamin_metabolism Disorders of Intracellular Cobalamin Metabolism MedGen:CN043592 1 1 1.0000 condition_record_support_limited 20 0 1 Disorders_of_Intracellular_Cobalamin_Metabolism 2 low_record_burden_interpretation_limited low_record_burden_gene CENPP human_phenotype_ontology_hp_0008573_medgen_c3810445 Low-frequency sensorineural hearing impairment Human_Phenotype_Ontology:HP:0008573,MedGen:C3810445 1 1 1.0000 condition_record_support_limited 20 0 1 Low-frequency_sensorineural_hearing_impairment 1 low_record_burden_interpretation_limited low_record_burden_gene CENPP human_phenotype_ontology_hp_0008542_medgen_c0271514 Low-frequency hearing loss Human_Phenotype_Ontology:HP:0008542,MedGen:C0271514 1 1 1.0000 condition_record_support_limited 20 0 1 Low-frequency_hearing_loss 1 low_record_burden_interpretation_limited low_record_burden_gene CENPO condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene CENPO adcy3_related_disorder ADCY3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ADCY3-related_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene CENPF susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 60 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CENPF mondo_mondo_0014378_medgen_c4014534_omim_615872_orphanet_244 Primary ciliary dyskinesia 29 MONDO:MONDO:0014378,MedGen:C4014534,OMIM:615872,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_ciliary_dyskinesia_29 60 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CENPF human_phenotype_ontology_hp_0003131_mondo_mondo_0009067_medgen_c0010691_omim_220100_orphanet_214 Cystinuria Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214 1 1 1.0000 condition_record_support_limited 20 0 0 Cystinuria 60 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CENPE condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene CELSR2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 2 low_record_burden_interpretation_limited low_record_burden_gene CELSR2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 2 low_record_burden_interpretation_limited low_record_burden_gene CELSR2 human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Esophageal atresia/tracheoesophageal fistula Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 1.0000 condition_record_support_limited 20 0 0 Esophageal_atresia/tracheoesophageal_fistula 2 low_record_burden_interpretation_limited low_record_burden_gene CELSR1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 14 low_record_burden_interpretation_limited low_record_burden_gene CELSR1 mondo_mondo_0007921_medgen_c0221348_omim_153300_orphanet_662 Yellow nail syndrome MONDO:MONDO:0007921,MedGen:C0221348,OMIM:153300,Orphanet:662 1 1 1.0000 condition_record_support_limited 20 0 0 Yellow_nail_syndrome 14 low_record_burden_interpretation_limited low_record_burden_gene CELSR1 moderate_ndd Moderate NDD . 1 1 1.0000 condition_record_support_limited 20 0 0 Moderate_NDD 14 low_record_burden_interpretation_limited low_record_burden_gene CELSR1 mild_ndd Mild NDD . 1 1 1.0000 condition_record_support_limited 20 0 0 Mild_NDD 14 low_record_burden_interpretation_limited low_record_burden_gene CELF2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene CELF2 celf2_related_disorder CELF2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CELF2-related_disorder 15 low_record_burden_interpretation_limited low_record_burden_gene CELA2A cela2a_related_disorder CELA2A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CELA2A-related_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene CEL condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene CEBPE condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene CEBPE specific_granule_deficiency_1_autosomal_dominant SPECIFIC GRANULE DEFICIENCY 1, AUTOSOMAL DOMINANT . 1 1 1.0000 condition_record_support_limited 20 0 1 SPECIFIC_GRANULE_DEFICIENCY_1,_AUTOSOMAL_DOMINANT 11 low_record_burden_interpretation_limited low_record_burden_gene CEBPE mondo_mondo_0009842_medgen_c1850054_omim_260570 Pelger-Huet-like anomaly and episodic fever with abdominal pain MONDO:MONDO:0009842,MedGen:C1850054,OMIM:260570 1 1 1.0000 condition_record_support_limited 20 0 0 Pelger-Huet-like_anomaly_and_episodic_fever_with_abdominal_pain 11 low_record_burden_interpretation_limited low_record_burden_gene CEACAM16 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_deafness 15 low_record_burden_interpretation_limited low_record_burden_gene CEACAM16 mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 1.0000 condition_record_support_limited 20 0 0 Nonsyndromic_genetic_hearing_loss 15 low_record_burden_interpretation_limited low_record_burden_gene CEACAM16 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 0 Hearing_loss,_autosomal_recessive 15 low_record_burden_interpretation_limited low_record_burden_gene CEACAM16 human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 1.0000 condition_record_support_limited 20 0 0 Ear_malformation 15 low_record_burden_interpretation_limited low_record_burden_gene CDX2 human_phenotype_ontology_hp_0010497_mondo_mondo_0017850_medgen_c0037205_orphanet_3169 Sirenomelia Human_Phenotype_Ontology:HP:0010497,MONDO:MONDO:0017850,MedGen:C0037205,Orphanet:3169 1 1 1.0000 condition_record_support_limited 20 0 0 Sirenomelia 1 low_record_burden_interpretation_limited low_record_burden_gene CDT1 mondo_mondo_0016817_medgen_c1868684_omim_ps224690_orphanet_2554 Meier-Gorlin syndrome MONDO:MONDO:0016817,MedGen:C1868684,OMIM:PS224690,Orphanet:2554 1 1 1.0000 condition_record_support_limited 20 0 1 Meier-Gorlin_syndrome 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDSN condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene CDSN cdsn_related_disorder CDSN-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CDSN-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene CDON condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene CDON mondo_mondo_0019828_medgen_c4053775_orphanet_95496 Pituitary stalk interruption syndrome MONDO:MONDO:0019828,MedGen:C4053775,Orphanet:95496 1 1 1.0000 condition_record_support_limited 20 0 0 Pituitary_stalk_interruption_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene CDON human_phenotype_ontology_hp_0000589_human_phenotype_ontology_hp_0007767_human_phenotype_ontology_hp_0007995_mondo_mondo_0001476_medgen_c0009363_orphanet_194 Congenital ocular coloboma Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_ocular_coloboma 5 low_record_burden_interpretation_limited low_record_burden_gene CDKN2C human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 1 low_record_burden_interpretation_limited low_record_burden_gene CDKN2B-AS1 medgen_c3272265 Three Vessel Coronary Disease MedGen:C3272265 1 1 1.0000 condition_record_support_limited 20 0 1 Three_Vessel_Coronary_Disease 5 low_record_burden_interpretation_limited low_record_burden_gene CDKN2B medgen_c3272265 Three Vessel Coronary Disease MedGen:C3272265 1 1 1.0000 condition_record_support_limited 20 0 1 Three_Vessel_Coronary_Disease 5 low_record_burden_interpretation_limited low_record_burden_gene CDKN2A human_phenotype_ontology_hp_0030359_mondo_mondo_0005097_medgen_c0149782 Squamous cell lung carcinoma Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782 1 1 1.0000 condition_record_support_limited 20 0 1 Squamous_cell_lung_carcinoma 168 compact_adjacent_exon_block_opportunity local_compact_architecture CDKN2A human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Ovarian neoplasm Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 1 1 1.0000 condition_record_support_limited 20 0 1 Ovarian_neoplasm 168 compact_adjacent_exon_block_opportunity local_compact_architecture CDKN2A mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 1 1 1.0000 condition_record_support_limited 20 0 1 Malignant_tumor_of_urinary_bladder 168 compact_adjacent_exon_block_opportunity local_compact_architecture CDKN2A human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 1 1 1.0000 condition_record_support_limited 20 0 0 Gastric_cancer 168 compact_adjacent_exon_block_opportunity local_compact_architecture CDKN2A mondo_mondo_0011789_medgen_c3551915_omim_607174_orphanet_263662 Familial meningioma MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174,Orphanet:263662 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_meningioma 168 compact_adjacent_exon_block_opportunity local_compact_architecture CDKN1C mondo_mondo_0020796_medgen_c5393125_omim_180860_orphanet_813 Silver-Russell syndrome 1 MONDO:MONDO:0020796,MedGen:C5393125,OMIM:180860,Orphanet:813 1 1 1.0000 condition_record_support_limited 20 0 1 Silver-Russell_syndrome_1 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKN1C monogenic_short_statue Monogenic short statue . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_short_statue 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKN1B cdkn1b_related_disorder CDKN1B-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CDKN1B-related_disorder 114 compact_adjacent_exon_block_opportunity local_compact_architecture CDKN1A mondo_mondo_0001187_medgen_c0005684_omim_109800 Malignant tumor of urinary bladder MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800 1 1 1.0000 condition_record_support_limited 20 0 0 Malignant_tumor_of_urinary_bladder 1 low_record_burden_interpretation_limited low_record_burden_gene CDKL5 human_phenotype_ontology_hp_0012171_medgen_c0562479 Stereotypical hand wringing Human_Phenotype_Ontology:HP:0012171,MedGen:C0562479 1 1 1.0000 condition_record_support_limited 20 0 1 Stereotypical_hand_wringing 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 human_phenotype_ontology_hp_0012172_medgen_c4023013 Stereotypical body rocking Human_Phenotype_Ontology:HP:0012172,MedGen:C4023013 1 1 1.0000 condition_record_support_limited 20 0 1 Stereotypical_body_rocking 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 mondo_mondo_0002265_medgen_c0038273 Stereotypic movement disorder MONDO:MONDO:0002265,MedGen:C0038273 1 1 1.0000 condition_record_support_limited 20 0 1 Stereotypic_movement_disorder 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 medgen_c4068740 Peripheral schisis MedGen:C4068740 1 1 1.0000 condition_record_support_limited 20 0 1 Peripheral_schisis 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 mondo_mondo_0011053_medgen_c1303073_omim_601358_orphanet_3051 Nicolaides-Baraitser syndrome MONDO:MONDO:0011053,MedGen:C1303073,OMIM:601358,Orphanet:3051 1 1 1.0000 condition_record_support_limited 20 0 0 Nicolaides-Baraitser_syndrome 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 human_phenotype_ontology_hp_0011511_medgen_c4023321 Macular schisis Human_Phenotype_Ontology:HP:0011511,MedGen:C4023321 1 1 1.0000 condition_record_support_limited 20 0 1 Macular_schisis 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 mondo_mondo_0005384_mesh_d004828_medgen_c0014547 Focal epilepsy MONDO:MONDO:0005384,MeSH:D004828,MedGen:C0014547 1 1 1.0000 condition_record_support_limited 20 0 0 Focal_epilepsy 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 mondo_mondo_0012812_medgen_c2677326_omim_612164_orphanet_1934_orphanet_33069_orphanet_599373 Developmental and epileptic encephalopathy, 4 MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164,Orphanet:1934,Orphanet:33069,Orphanet:599373 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_4 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 mondo_mondo_0010632_medgen_c3463992_omim_308350 Developmental and epileptic encephalopathy, 1 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_1 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 human_phenotype_ontology_hp_0003763_mondo_mondo_0002443_medgen_c0006325 Bruxism Human_Phenotype_Ontology:HP:0003763,MONDO:MONDO:0002443,MedGen:C0006325 1 1 1.0000 condition_record_support_limited 20 0 1 Bruxism 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 mondo_mondo_0007113_medgen_c0162635_omim_105830_orphanet_72 Angelman syndrome MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:72 1 1 1.0000 condition_record_support_limited 20 0 1 Angelman_syndrome 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL5 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 806 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDKL2 cdkl2_related_condition CDKL2-related condition . 1 1 1.0000 condition_record_support_limited 20 0 0 CDKL2-related_condition 1 low_record_burden_interpretation_limited low_record_burden_gene CDK9 condition_not_provided condition not provided MedGen:CN169374 1 1 1.0000 condition_record_support_limited 20 1 1 not_specified 1 low_record_burden_interpretation_limited low_record_burden_gene CDK8 human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Ventriculomegaly Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 1 1 1.0000 condition_record_support_limited 20 0 1 Ventriculomegaly 19 low_record_burden_interpretation_limited low_record_burden_gene CDK8 human_phenotype_ontology_hp_0001624_human_phenotype_ontology_hp_0001625_human_phenotype_ontology_hp_0003826_medgen_c0595939 Stillbirth Human_Phenotype_Ontology:HP:0001624,Human_Phenotype_Ontology:HP:0001625,Human_Phenotype_Ontology:HP:0003826,MedGen:C0595939 1 1 1.0000 condition_record_support_limited 20 0 1 Stillbirth 19 low_record_burden_interpretation_limited low_record_burden_gene CDK8 human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 1.0000 condition_record_support_limited 20 0 1 Heart,_malformation_of 19 low_record_burden_interpretation_limited low_record_burden_gene CDK8 human_phenotype_ontology_hp_0006674_human_phenotype_ontology_hp_0010316_mondo_mondo_0009144_medgen_c0013481_omim_224700_orphanet_1880 Ebstein anomaly Human_Phenotype_Ontology:HP:0006674,Human_Phenotype_Ontology:HP:0010316,MONDO:MONDO:0009144,MedGen:C0013481,OMIM:224700,Orphanet:1880 1 1 1.0000 condition_record_support_limited 20 0 1 Ebstein_anomaly 19 low_record_burden_interpretation_limited low_record_burden_gene CDK8 human_phenotype_ontology_hp_0000776_human_phenotype_ontology_hp_0006604_mondo_mondo_0005711_mesh_d065630_medgen_c0235833_omim_ps142340_orphanet_2140 Congenital diaphragmatic hernia Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_diaphragmatic_hernia 19 low_record_burden_interpretation_limited low_record_burden_gene CDK8 mondo_mondo_0100465_medgen_cn315647 Complex neurodevelopmental disorder with or without congenital anomalies MONDO:MONDO:0100465,MedGen:CN315647 1 1 1.0000 condition_record_support_limited 20 0 1 Complex_neurodevelopmental_disorder_with_or_without_congenital_anomalies 19 low_record_burden_interpretation_limited low_record_burden_gene CDK8 human_phenotype_ontology_hp_0011565_medgen_c0392482 Common atrium Human_Phenotype_Ontology:HP:0011565,MedGen:C0392482 1 1 1.0000 condition_record_support_limited 20 0 1 Common_atrium 19 low_record_burden_interpretation_limited low_record_burden_gene CDK8 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 19 low_record_burden_interpretation_limited low_record_burden_gene CDK6 mondo_mondo_0014484_medgen_c4015156_omim_616080_orphanet_2512 Microcephaly 12, primary, autosomal recessive MONDO:MONDO:0014484,MedGen:C4015156,OMIM:616080,Orphanet:2512 1 1 1.0000 condition_record_support_limited 20 0 0 Microcephaly_12,_primary,_autosomal_recessive 1 low_record_burden_interpretation_limited low_record_burden_gene CDK5RAP2 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 0 Microcephaly 78 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CDK5RAP2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 78 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CDK4 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene CDK4 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 1 1 1.0000 condition_record_support_limited 20 0 0 Gastric_cancer 3 low_record_burden_interpretation_limited low_record_burden_gene CDK16 human_phenotype_ontology_hp_0012207_medgen_c4082176 Reduced sperm motility Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_sperm_motility 1 low_record_burden_interpretation_limited low_record_burden_gene CDK16 mondo_mondo_0001913_mesh_d009845_medgen_c0028960 Oligospermia MONDO:MONDO:0001913,MeSH:D009845,MedGen:C0028960 1 1 1.0000 condition_record_support_limited 20 0 1 Oligospermia 1 low_record_burden_interpretation_limited low_record_burden_gene CDK16 human_phenotype_ontology_hp_0012864_medgen_c0403824 Abnormal sperm morphology Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_sperm_morphology 1 low_record_burden_interpretation_limited low_record_burden_gene CDK13 mondo_mondo_0000508_medgen_c5680525_orphanet_183763 Syndromic intellectual disability MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 1.0000 condition_record_support_limited 20 0 1 Syndromic_intellectual_disability 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDK13 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDK13 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDK13 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDK13 marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 1 1 1.0000 condition_record_support_limited 20 0 1 Marfanoid_habitus_and_intellectual_disability 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDK13 human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 1.0000 condition_record_support_limited 20 0 1 Heart,_malformation_of 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDK13 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 86 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDK12 human_phenotype_ontology_hp_0030078_mondo_mondo_0005061_mesh_d000077192_medgen_c0152013 Lung adenocarcinoma Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013 1 1 1.0000 condition_record_support_limited 20 0 0 Lung_adenocarcinoma 1 low_record_burden_interpretation_limited low_record_burden_gene CDK10 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDK10 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDHR1 mondo_mondo_0018998_mesh_d057130_medgen_c0339527_omim_ps204000_orphanet_65 Leber congenital amaurosis MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65 1 1 1.0000 condition_record_support_limited 20 0 1 Leber_congenital_amaurosis 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDHR1 mondo_mondo_0012983_medgen_c2675210_omim_612657_orphanet_1872 Cone-rod dystrophy 12 MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 0 Cone-rod_dystrophy_12 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDHR1 mondo_mondo_0000455_medgen_c0730290_orphanet_1871 Cone dystrophy MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 1.0000 condition_record_support_limited 20 0 1 Cone_dystrophy 100 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH4 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 1 low_record_burden_interpretation_limited low_record_burden_gene CDH3 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH3 human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 1.0000 condition_record_support_limited 20 0 1 Macular_dystrophy 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH3 mondo_mondo_0018914_mesh_c537160_medgen_c1854310_orphanet_55654 Hypotrichosis simplex MONDO:MONDO:0018914,MeSH:C537160,MedGen:C1854310,Orphanet:55654 1 1 1.0000 condition_record_support_limited 20 0 0 Hypotrichosis_simplex 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH3 human_phenotype_ontology_hp_0001006_human_phenotype_ontology_hp_0002551_human_phenotype_ontology_hp_0004525_human_phenotype_ontology_hp_0004874_mondo_mondo_0003037_medgen_c0020678_omim_ps605389 Hypotrichosis Human_Phenotype_Ontology:HP:0001006,Human_Phenotype_Ontology:HP:0002551,Human_Phenotype_Ontology:HP:0004525,Human_Phenotype_Ontology:HP:0004874,MONDO:MONDO:0003037,MedGen:C0020678,OMIM:PS605389 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotrichosis 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH3 cdh3_related_disorder CDH3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CDH3-related_disorder 55 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH23 mondo_mondo_0010169_medgen_c1848634_omim_276901_orphanet_231178_orphanet_886 Usher syndrome type 2A MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886 1 1 1.0000 condition_record_support_limited 20 0 1 Usher_syndrome_type_2A 725 large_gene_or_donor_burden_stress_case donor_burden_stress CDH23 mondo_mondo_0016484_medgen_c0339534_orphanet_231178 Usher syndrome type 2 MONDO:MONDO:0016484,MedGen:C0339534,Orphanet:231178 1 1 1.0000 condition_record_support_limited 20 0 1 Usher_syndrome_type_2 725 large_gene_or_donor_burden_stress_case donor_burden_stress CDH23 medgen_c3276419 USHER SYNDROME, TYPE ID/F, DIGENIC MedGen:C3276419 1 1 1.0000 condition_record_support_limited 20 0 1 USHER_SYNDROME,_TYPE_ID/F,_DIGENIC 725 large_gene_or_donor_burden_stress_case donor_burden_stress CDH23 medgen_c5680332_orphanet_98661 Syndromic retinitis pigmentosa MedGen:C5680332,Orphanet:98661 1 1 1.0000 condition_record_support_limited 20 0 1 Syndromic_retinitis_pigmentosa 725 large_gene_or_donor_burden_stress_case donor_burden_stress CDH23 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 725 large_gene_or_donor_burden_stress_case donor_burden_stress CDH23 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 725 large_gene_or_donor_burden_stress_case donor_burden_stress CDH23 medgen_c0011053 Deafness MedGen:C0011053 1 1 1.0000 condition_record_support_limited 20 0 1 Deafness 725 large_gene_or_donor_burden_stress_case donor_burden_stress CDH23 mondo_mondo_0012719_medgen_c2673635_omim_611721_orphanet_139406 Combined PSAP deficiency MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orphanet:139406 1 1 1.0000 condition_record_support_limited 20 0 0 Combined_PSAP_deficiency 725 large_gene_or_donor_burden_stress_case donor_burden_stress CDH23 human_phenotype_ontology_hp_0008530_human_phenotype_ontology_hp_0008539_human_phenotype_ontology_hp_0008579_human_phenotype_ontology_hp_0008585_human_phenotype_ontology_hp_0008619_medgen_c0452138 Bilateral sensorineural hearing impairment Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_sensorineural_hearing_impairment 725 large_gene_or_donor_burden_stress_case donor_burden_stress CDH2 human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Cerebral arteriovenous malformation Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_arteriovenous_malformation 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH2 cdh2_related_disorder CDH2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CDH2-related_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH2 mondo_mondo_0021944_medgen_c1852271_omim_ps609129 Auditory neuropathy MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 1 1 1.0000 condition_record_support_limited 20 0 0 Auditory_neuropathy 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH2 mondo_mondo_0859261_medgen_c5677018_omim_619957 Attention deficit-hyperactivity disorder 8 MONDO:MONDO:0859261,MedGen:C5677018,OMIM:619957 1 1 1.0000 condition_record_support_limited 20 0 1 Attention_deficit-hyperactivity_disorder_8 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDH1 mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 Familial prostate cancer MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_prostate_cancer 622 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CDH1 mondo_mondo_1060171_medgen_c5669877 Diffuse midline glioma, H3 K27-altered MONDO:MONDO:1060171,MedGen:C5669877 1 1 1.0000 condition_record_support_limited 20 0 0 Diffuse_midline_glioma,_H3_K27-altered 622 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CDH1 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 622 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CDH1 mondo_mondo_0000552_medgen_c0206692 Breast lobular carcinoma MONDO:MONDO:0000552,MedGen:C0206692 1 1 1.0000 condition_record_support_limited 20 0 1 Breast_lobular_carcinoma 622 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CDH1 human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 1 1 1.0000 condition_record_support_limited 20 0 0 Breast_carcinoma 622 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control CDCA3 mondo_mondo_0014872_medgen_c4310758_omim_617024 Congenital stationary night blindness 1H MONDO:MONDO:0014872,MedGen:C4310758,OMIM:617024 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_stationary_night_blindness_1H 1 low_record_burden_interpretation_limited low_record_burden_gene CDC73 human_phenotype_ontology_hp_0002897_human_phenotype_ontology_hp_0008257_mondo_mondo_0006890_medgen_c0262587 Parathyroid gland adenoma Human_Phenotype_Ontology:HP:0002897,Human_Phenotype_Ontology:HP:0008257,MONDO:MONDO:0006890,MedGen:C0262587 1 1 1.0000 condition_record_support_limited 20 0 1 Parathyroid_gland_adenoma 152 compact_adjacent_exon_block_opportunity local_compact_architecture CDC73 medgen_c2675664 Parathyroid adenoma, somatic MedGen:C2675664 1 1 1.0000 condition_record_support_limited 20 0 1 Parathyroid_adenoma,_somatic 152 compact_adjacent_exon_block_opportunity local_compact_architecture CDC73 mondo_mondo_0007540_mesh_d018761_medgen_c0025267_omim_131100_orphanet_652 Multiple endocrine neoplasia, type 1 MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:652 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_endocrine_neoplasia,_type_1 152 compact_adjacent_exon_block_opportunity local_compact_architecture CDC73 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 152 compact_adjacent_exon_block_opportunity local_compact_architecture CDC73 mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_cancer_of_breast 152 compact_adjacent_exon_block_opportunity local_compact_architecture CDC73 medgen_c4017087 Cystic parathyroid adenoma MedGen:C4017087 1 1 1.0000 condition_record_support_limited 20 0 0 Cystic_parathyroid_adenoma 152 compact_adjacent_exon_block_opportunity local_compact_architecture CDC42BPB mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC42BPB mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC42BPB mondo_mondo_0100157_medgen_c4016948_omim_618882 Imerslund-Grasbeck syndrome type 2 MONDO:MONDO:0100157,MedGen:C4016948,OMIM:618882 1 1 1.0000 condition_record_support_limited 20 0 1 Imerslund-Grasbeck_syndrome_type_2 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC42BPB mondo_mondo_0100156_medgen_c4016819_omim_261100 Imerslund-Grasbeck syndrome type 1 MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100 1 1 1.0000 condition_record_support_limited 20 0 1 Imerslund-Grasbeck_syndrome_type_1 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC42BPB mondo_mondo_0009853_medgen_c4551825_omim_ps261100_orphanet_35858 Imerslund-Grasbeck syndrome MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858 1 1 1.0000 condition_record_support_limited 20 0 1 Imerslund-Grasbeck_syndrome 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC42BPB cdc42bpb_related_disorder CDC42BPB-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CDC42BPB-related_disorder 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC42BPB mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC42 medgen_c1834120 Noonan-like syndrome MedGen:C1834120 1 1 1.0000 condition_record_support_limited 20 0 1 Noonan-like_syndrome 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC42 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC42 mondo_mondo_0015541_medgen_c0272199_omim_ps267700_orphanet_158038_orphanet_540 Familial hemophagocytic lymphohistiocytosis MONDO:MONDO:0015541,MedGen:C0272199,OMIM:PS267700,Orphanet:158038,Orphanet:540 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_hemophagocytic_lymphohistiocytosis 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC42 mondo_mondo_0005453_medgen_c0152021 Congenital heart disease MONDO:MONDO:0005453,MedGen:C0152021 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_heart_disease 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC42 cdc42_associated_inflammatory_disease CDC42-associated inflammatory disease . 1 1 1.0000 condition_record_support_limited 20 0 1 CDC42-associated_inflammatory_disease 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC40 mondo_mondo_0030259_medgen_c5543326_omim_619302 Pontocerebellar hypoplasia, type 15 MONDO:MONDO:0030259,MedGen:C5543326,OMIM:619302 1 1 1.0000 condition_record_support_limited 20 0 1 Pontocerebellar_hypoplasia,_type_15 1 low_record_burden_interpretation_limited low_record_burden_gene CDC40 mesh_c580383_medgen_c0266468 Congenital pontocerebellar hypoplasia MeSH:C580383,MedGen:C0266468 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_pontocerebellar_hypoplasia 1 low_record_burden_interpretation_limited low_record_burden_gene CDC27 human_phenotype_ontology_hp_0004935_medgen_c0265908 Pulmonary artery atresia Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908 1 1 1.0000 condition_record_support_limited 20 0 0 Pulmonary_artery_atresia 1 low_record_burden_interpretation_limited low_record_burden_gene CDC25A human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Autosomal dominant polycystic liver disease Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_polycystic_liver_disease 1 low_record_burden_interpretation_limited low_record_burden_gene CDC14A human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 0 Sensorineural_hearing_loss_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC14A medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_genetic_deafness 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CDC14A cdc14a_related_disorder CDC14A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CDC14A-related_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD8A mondo_mondo_0012161_medgen_c1837065_omim_608957_orphanet_169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation MONDO:MONDO:0012161,MedGen:C1837065,OMIM:608957,Orphanet:169085 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_respiratory_infections_associated_with_CD8alpha_chain_mutation 1 low_record_burden_interpretation_limited low_record_burden_gene CD79B mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 Malignant lymphoma, large B-cell, diffuse MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 1 1 1.0000 condition_record_support_limited 20 0 0 Malignant_lymphoma,_large_B-cell,_diffuse 4 low_record_burden_interpretation_limited low_record_burden_gene CD79A mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 1 1 1.0000 condition_record_support_limited 20 0 0 Inherited_Immunodeficiency_Diseases 8 low_record_burden_interpretation_limited low_record_burden_gene CD63 rdh5_related_disorder RDH5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RDH5-related_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD55 cromer_blood_group_system_dr_a_phenotype CROMER BLOOD GROUP SYSTEM, Dr(a-) PHENOTYPE . 1 1 1.0000 condition_record_support_limited 20 0 1 CROMER_BLOOD_GROUP_SYSTEM,_Dr(a-)_PHENOTYPE 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD46 mondo_mondo_0019737_mesh_d057049_medgen_c2717961_orphanet_93573 Thrombotic microangiopathy MONDO:MONDO:0019737,MeSH:D057049,MedGen:C2717961,Orphanet:93573 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombotic_microangiopathy 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD46 cd46_related_disorder CD46-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CD46-related_disorder 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD46 cd46_related_atypical_hemolytic_uremic_syndrome CD46-related atypical hemolytic uremic syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 CD46-related_atypical_hemolytic_uremic_syndrome 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD46 autosomal_dominant_and_autosomal_recessive_cd46_related_disorders Autosomal dominant and autosomal recessive CD46-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_and_autosomal_recessive_CD46-related_disorders 69 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD40LG mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD40LG mondo_mondo_0003947_medgen_c0272236_omim_ps308230 Hyperimmunoglobulin M syndrome MONDO:MONDO:0003947,MedGen:C0272236,OMIM:PS308230 1 1 1.0000 condition_record_support_limited 20 0 0 Hyperimmunoglobulin_M_syndrome 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD40LG mondo_mondo_0015517_medgen_c0009447_omim_ps607594_orphanet_1572 Common variable immunodeficiency MONDO:MONDO:0015517,MedGen:C0009447,OMIM:PS607594,Orphanet:1572 1 1 1.0000 condition_record_support_limited 20 0 1 Common_variable_immunodeficiency 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD3G condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD3E condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD3E human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_combined_immunodeficiency_disease 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD3E medgen_c3810128 Immunodeficiency 18, severe combined immunodeficiency variant MedGen:C3810128 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_18,_severe_combined_immunodeficiency_variant 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD3D condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 17 low_record_burden_interpretation_limited low_record_burden_gene CD3D human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 1 1 1.0000 condition_record_support_limited 20 0 0 Severe_combined_immunodeficiency_disease 17 low_record_burden_interpretation_limited low_record_burden_gene CD3D cd3d_related_disorder CD3D-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CD3D-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene CD36 medgen_c1969379 Malaria, cerebral, resistance to MedGen:C1969379 1 1 1.0000 condition_record_support_limited 20 0 1 Malaria,_cerebral,_resistance_to 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD36 mondo_mondo_0000009_mesh_d001791_medgen_c0005818_omim_ps231200_orphanet_248326 Inherited bleeding disorder, platelet-type MONDO:MONDO:0000009,MeSH:D001791,MedGen:C0005818,OMIM:PS231200,Orphanet:248326 1 1 1.0000 condition_record_support_limited 20 0 0 Inherited_bleeding_disorder,_platelet-type 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CD2AP medgen_c4016880 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3 MedGen:C4016880 1 1 1.0000 condition_record_support_limited 20 0 1 FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS_3 17 low_record_burden_interpretation_limited low_record_burden_gene CD2AP cd2ap_related_disorder CD2AP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CD2AP-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene CD28 mondo_mondo_0971177_medgen_c5935639_omim_620901 Immunodeficiency 123 with HPV-related verrucosis MONDO:MONDO:0971177,MedGen:C5935639,OMIM:620901 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_123_with_HPV-related_verrucosis 1 low_record_burden_interpretation_limited low_record_burden_gene CD27 human_phenotype_ontology_hp_0002721_human_phenotype_ontology_hp_0005362_human_phenotype_ontology_hp_0005371_mondo_mondo_0021094_medgen_c0021051_omim_ps300755 Immunodeficiency Human_Phenotype_Ontology:HP:0002721,Human_Phenotype_Ontology:HP:0005362,Human_Phenotype_Ontology:HP:0005371,MONDO:MONDO:0021094,MedGen:C0021051,OMIM:PS300755 1 1 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency 17 low_record_burden_interpretation_limited low_record_burden_gene CD27 human_phenotype_ontology_hp_0005387_mondo_mondo_0015131_medgen_c2711630_orphanet_101972 Combined immunodeficiency Human_Phenotype_Ontology:HP:0005387,MONDO:MONDO:0015131,MedGen:C2711630,Orphanet:101972 1 1 1.0000 condition_record_support_limited 20 0 1 Combined_immunodeficiency 17 low_record_burden_interpretation_limited low_record_burden_gene CD247 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene CD247 human_phenotype_ontology_hp_0004430_mondo_mondo_0015974_mesh_d016511_medgen_c0085110_orphanet_183660 Severe combined immunodeficiency disease Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_combined_immunodeficiency_disease 8 low_record_burden_interpretation_limited low_record_burden_gene CD247 cd247_related_disorder CD247-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CD247-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene CCT7 medgen_c1838021 Myocardial infarction, susceptibility to, 1 MedGen:C1838021 1 1 1.0000 condition_record_support_limited 20 0 0 Myocardial_infarction,_susceptibility_to,_1 1 low_record_burden_interpretation_limited low_record_burden_gene CCT5 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene CCT5 mondo_mondo_0009748_medgen_c1850395_omim_256840_orphanet_139578 Hereditary sensory and autonomic neuropathy with spastic paraplegia MONDO:MONDO:0009748,MedGen:C1850395,OMIM:256840,Orphanet:139578 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_sensory_and_autonomic_neuropathy_with_spastic_paraplegia 1 low_record_burden_interpretation_limited low_record_burden_gene CCPG1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene CCPG1 mondo_mondo_0032822_medgen_c5231418_omim_618580 Developmental and epileptic encephalopathy, 80 MONDO:MONDO:0032822,MedGen:C5231418,OMIM:618580 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_80 1 low_record_burden_interpretation_limited low_record_burden_gene CCNK mondo_mondo_0029143_medgen_c4748381_omim_618147 Intellectual developmental disorder with hypertelorism and distinctive facies MONDO:MONDO:0029143,MedGen:C4748381,OMIM:618147 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder_with_hypertelorism_and_distinctive_facies 1 low_record_burden_interpretation_limited low_record_burden_gene CCNH gene_4183_mondo_mondo_0010758_medgen_c0796200_omim_314580_orphanet_3454_orphanet_85283 Wieacker-Wolff syndrome Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580,Orphanet:3454,Orphanet:85283 1 1 1.0000 condition_record_support_limited 20 0 0 Wieacker-Wolff_syndrome 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCNH mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCNH mondo_mondo_0019180_medgen_c0039445_omim_ps187300_orphanet_774 Hereditary hemorrhagic telangiectasia MONDO:MONDO:0019180,MedGen:C0039445,OMIM:PS187300,Orphanet:774 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_hemorrhagic_telangiectasia 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCNH human_phenotype_ontology_hp_0025104_mondo_mondo_0016231_medgen_c0340803_orphanet_211247 Capillary malformation Human_Phenotype_Ontology:HP:0025104,MONDO:MONDO:0016231,MedGen:C0340803,Orphanet:211247 1 1 1.0000 condition_record_support_limited 20 0 0 Capillary_malformation 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCNH mondo_mondo_0011191_medgen_c1865871_omim_602089 Capillary infantile hemangioma MONDO:MONDO:0011191,MedGen:C1865871,OMIM:602089 1 1 1.0000 condition_record_support_limited 20 0 0 Capillary_infantile_hemangioma 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCNH human_phenotype_ontology_hp_0100026_mesh_d001165_medgen_c0003857 Arteriovenous malformation Human_Phenotype_Ontology:HP:0100026,MeSH:D001165,MedGen:C0003857 1 1 1.0000 condition_record_support_limited 20 0 0 Arteriovenous_malformation 255 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCNF condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene CCND2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 17 low_record_burden_interpretation_limited low_record_burden_gene CCND2 mondo_mondo_0011313_medgen_c4012727_omim_603387_orphanet_83473 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 MONDO:MONDO:0011313,MedGen:C4012727,OMIM:603387,Orphanet:83473 1 1 1.0000 condition_record_support_limited 20 0 1 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_1 17 low_record_burden_interpretation_limited low_record_burden_gene CCNB3 mondo_mondo_0013727_medgen_c3280670_omim_614389 Pregnancy loss, recurrent, susceptibility to, 1 MONDO:MONDO:0013727,MedGen:C3280670,OMIM:614389 1 1 1.0000 condition_record_support_limited 20 0 0 Pregnancy_loss,_recurrent,_susceptibility_to,_1 1 low_record_burden_interpretation_limited low_record_burden_gene CCN2 mondo_mondo_0976230_medgen_c6012697_omim_621099 Spondyloepimetaphyseal dysplasia, Li-Shao-Li type MONDO:MONDO:0976230,MedGen:C6012697,OMIM:621099 1 1 1.0000 condition_record_support_limited 20 0 0 Spondyloepimetaphyseal_dysplasia,_Li-Shao-Li_type 3 low_record_burden_interpretation_limited low_record_burden_gene CCM2 subcutaneous_venous_lacunae Subcutaneous venous lacunae . 1 1 1.0000 condition_record_support_limited 20 0 1 Subcutaneous_venous_lacunae 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCM2 cerebral_cavernous_angioma Cerebral cavernous angioma . 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_cavernous_angioma 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCM2 human_phenotype_ontology_hp_0001048_mondo_mondo_0003155_medgen_c0018920 Cavernous hemangioma Human_Phenotype_Ontology:HP:0001048,MONDO:MONDO:0003155,MedGen:C0018920 1 1 1.0000 condition_record_support_limited 20 0 0 Cavernous_hemangioma 110 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCL5 medgen_c4016387 Human immunodeficiency virus type 1, rapid disease progression with infection by MedGen:C4016387 1 1 1.0000 condition_record_support_limited 20 0 0 Human_immunodeficiency_virus_type_1,_rapid_disease_progression_with_infection_by 1 low_record_burden_interpretation_limited low_record_burden_gene CCKBR mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC88C mondo_mondo_0016349_medgen_c0020256_omim_ps236600_orphanet_2185 Congenital hydrocephalus MONDO:MONDO:0016349,MedGen:C0020256,OMIM:PS236600,Orphanet:2185 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_hydrocephalus 113 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CCDC82 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene CCDC82 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 3 low_record_burden_interpretation_limited low_record_burden_gene CCDC82 ccdc82_related_disorder CCDC82-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CCDC82-related_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene CCDC68 human_phenotype_ontology_hp_0200067_medgen_c3279439 Recurrent spontaneous abortion Human_Phenotype_Ontology:HP:0200067,MedGen:C3279439 1 1 1.0000 condition_record_support_limited 20 0 0 Recurrent_spontaneous_abortion 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC62 mondo_mondo_0030718_medgen_c5676947_omim_619803 Spermatogenic failure 67 MONDO:MONDO:0030718,MedGen:C5676947,OMIM:619803 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_67 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC47 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene CCDC40 respiratory_ciliopathies_including_non_cf_bronchiectasis Respiratory ciliopathies including non-CF bronchiectasis . 1 1 1.0000 condition_record_support_limited 20 0 1 Respiratory_ciliopathies_including_non-CF_bronchiectasis 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCDC40 mondo_mondo_0012085_medgen_c1837618_omim_608644_orphanet_244 Primary ciliary dyskinesia 3 MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_ciliary_dyskinesia_3 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCDC40 mondo_mondo_0014716_medgen_c4225259_omim_616638_orphanet_457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome MONDO:MONDO:0014716,MedGen:C4225259,OMIM:616638,Orphanet:457485 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly-intellectual_disability-neurodevelopmental_disorder-small_thorax_syndrome 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCDC40 human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Heterotaxy Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 1 1 1.0000 condition_record_support_limited 20 0 0 Heterotaxy 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCDC40 mondo_mondo_0009290_medgen_c0017921_omim_232300_orphanet_365 Glycogen storage disease, type II MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365 1 1 1.0000 condition_record_support_limited 20 0 1 Glycogen_storage_disease,_type_II 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCDC40 mondo_mondo_0002412_medgen_c0017919_omim_ps232200_orphanet_79201 Glycogen storage disease MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200,Orphanet:79201 1 1 1.0000 condition_record_support_limited 20 0 1 Glycogen_storage_disease 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCDC40 gaa_related_disorder GAA-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 GAA-related_disorder 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCDC40 mondo_mondo_0009478_medgen_c4722305_omim_243700_orphanet_217390 Combined immunodeficiency due to DOCK8 deficiency MONDO:MONDO:0009478,MedGen:C4722305,OMIM:243700,Orphanet:217390 1 1 1.0000 condition_record_support_limited 20 0 1 Combined_immunodeficiency_due_to_DOCK8_deficiency 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCDC39 human_phenotype_ontology_hp_0000789_mondo_mondo_0005047_medgen_c0021359 Infertility disorder Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359 1 1 1.0000 condition_record_support_limited 20 0 1 Infertility_disorder 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCDC39 human_phenotype_ontology_hp_0030853_medgen_c0266642_orphanet_157769 Heterotaxy Human_Phenotype_Ontology:HP:0030853,MedGen:C0266642,Orphanet:157769 1 1 1.0000 condition_record_support_limited 20 0 1 Heterotaxy 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CCDC33 mondo_mondo_0011010_medgen_c1832661_omim_601186_orphanet_2470 Matthew-Wood syndrome MONDO:MONDO:0011010,MedGen:C1832661,OMIM:601186,Orphanet:2470 1 1 1.0000 condition_record_support_limited 20 0 0 Matthew-Wood_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC30 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene CCDC22 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene CCDC186 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC186 human_phenotype_ontology_hp_0011344_medgen_c1837397 Severe global developmental delay Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_global_developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC186 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC186 human_phenotype_ontology_hp_0000257_human_phenotype_ontology_hp_0001364_human_phenotype_ontology_hp_0004482_medgen_c1849075 Relative macrocephaly Human_Phenotype_Ontology:HP:0000257,Human_Phenotype_Ontology:HP:0001364,Human_Phenotype_Ontology:HP:0004482,MedGen:C1849075 1 1 1.0000 condition_record_support_limited 20 0 1 Relative_macrocephaly 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC186 mondo_mondo_0006936_medgen_c0034089 Pulmonary valve stenosis MONDO:MONDO:0006936,MedGen:C0034089 1 1 1.0000 condition_record_support_limited 20 0 1 Pulmonary_valve_stenosis 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC186 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC186 human_phenotype_ontology_hp_0000821_human_phenotype_ontology_hp_0003222_human_phenotype_ontology_hp_0008203_mondo_mondo_0005420_medgen_c0020676 Hypothyroidism Human_Phenotype_Ontology:HP:0000821,Human_Phenotype_Ontology:HP:0003222,Human_Phenotype_Ontology:HP:0008203,MONDO:MONDO:0005420,MedGen:C0020676 1 1 1.0000 condition_record_support_limited 20 0 1 Hypothyroidism 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC186 human_phenotype_ontology_hp_0001434_human_phenotype_ontology_hp_0001510_human_phenotype_ontology_hp_0001512_human_phenotype_ontology_hp_0001514_human_phenotype_ontology_hp_0001517_human_phenotype_ontology_hp_0001532_human_phenotype_ontology_hp_0008847_human_phenotype_ontology_hp_0008870_human_phenotype_ontology_hp_0008886_human_phenotype_ontology_hp_0008893_human_phenotype_ontology_hp_0008926_medgen_c0456070 Growth delay Human_Phenotype_Ontology:HP:0001434,Human_Phenotype_Ontology:HP:0001510,Human_Phenotype_Ontology:HP:0001512,Human_Phenotype_Ontology:HP:0001514,Human_Phenotype_Ontology:HP:0001517,Human_Phenotype_Ontology:HP:0001532,Human_Phenotype_Ontology:HP:0008847,Human_Phenotype_Ontology:HP:0008870,Human_Phenotype_Ontology:HP:0008886,Human_Phenotype_Ontology:HP:0008893,Human_Phenotype_Ontology:HP:0008926,MedGen:C0456070 1 1 1.0000 condition_record_support_limited 20 0 1 Growth_delay 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC186 human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC186 human_phenotype_ontology_hp_0010850_medgen_c4023683 EEG with spike-wave complexes Human_Phenotype_Ontology:HP:0010850,MedGen:C4023683 1 1 1.0000 condition_record_support_limited 20 0 1 EEG_with_spike-wave_complexes 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC186 human_phenotype_ontology_hp_0007130_human_phenotype_ontology_hp_0007198_human_phenotype_ontology_hp_0007281_medgen_c1848980 Developmental stagnation Human_Phenotype_Ontology:HP:0007130,Human_Phenotype_Ontology:HP:0007198,Human_Phenotype_Ontology:HP:0007281,MedGen:C1848980 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_stagnation 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC183 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 2 low_record_burden_interpretation_limited low_record_burden_gene CCDC183 mondo_mondo_0003233_medgen_c0270736_omim_ps190300 Essential tremor MONDO:MONDO:0003233,MedGen:C0270736,OMIM:PS190300 1 1 1.0000 condition_record_support_limited 20 0 0 Essential_tremor 2 low_record_burden_interpretation_limited low_record_burden_gene CCDC174 mondo_mondo_0014784_medgen_c4225196_omim_616816_orphanet_467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome MONDO:MONDO:0014784,MedGen:C4225196,OMIM:616816,Orphanet:467176 1 1 1.0000 condition_record_support_limited 20 0 0 Severe_hypotonia-psychomotor_developmental_delay-strabismus-cardiac_septal_defect_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC134 severe_progressive_deforming_recessive_osteogenesis_imperfecta_type_iii Severe progressive deforming recessive osteogenesis imperfecta (type III) . 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_progressive_deforming_recessive_osteogenesis_imperfecta_(type_III) 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC134 human_phenotype_ontology_hp_0002660_human_phenotype_ontology_hp_0002757_human_phenotype_ontology_hp_0002767_human_phenotype_ontology_hp_0002809_medgen_c0016655 Recurrent fractures Human_Phenotype_Ontology:HP:0002660,Human_Phenotype_Ontology:HP:0002757,Human_Phenotype_Ontology:HP:0002767,Human_Phenotype_Ontology:HP:0002809,MedGen:C0016655 1 1 1.0000 condition_record_support_limited 20 0 1 Recurrent_fractures 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC134 mondo_mondo_0030714_medgen_c5676943_omim_619795 Osteogenesis imperfecta, IIA 22 MONDO:MONDO:0030714,MedGen:C5676943,OMIM:619795 1 1 1.0000 condition_record_support_limited 20 0 1 Osteogenesis_imperfecta,_IIA_22 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC107 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC107 rmrp_related_disorder RMRP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 RMRP-related_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC107 mondo_mondo_0009601_medgen_c1834821_omim_250460 Metaphyseal dysplasia without hypotrichosis MONDO:MONDO:0009601,MedGen:C1834821,OMIM:250460 1 1 1.0000 condition_record_support_limited 20 0 1 Metaphyseal_dysplasia_without_hypotrichosis 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC107 mondo_mondo_0009595_medgen_c0220748_omim_250250_orphanet_175 Metaphyseal chondrodysplasia, McKusick type MONDO:MONDO:0009595,MedGen:C0220748,OMIM:250250,Orphanet:175 1 1 1.0000 condition_record_support_limited 20 0 1 Metaphyseal_chondrodysplasia,_McKusick_type 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC107 mondo_mondo_0054560_medgen_c4551965_omim_607095_orphanet_93347 Anauxetic dysplasia 1 MONDO:MONDO:0054560,MedGen:C4551965,OMIM:607095,Orphanet:93347 1 1 1.0000 condition_record_support_limited 20 0 1 Anauxetic_dysplasia_1 1 low_record_burden_interpretation_limited low_record_burden_gene CCDC107 mondo_mondo_0011773_medgen_c1846796_omim_ps607095_orphanet_93347 Anauxetic dysplasia MONDO:MONDO:0011773,MedGen:C1846796,OMIM:PS607095,Orphanet:93347 1 1 1.0000 condition_record_support_limited 20 0 1 Anauxetic_dysplasia 1 low_record_burden_interpretation_limited low_record_burden_gene CC2D2A susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A medgen_c3280898 Joubert syndrome 9/15, digenic MedGen:C3280898 1 1 1.0000 condition_record_support_limited 20 0 1 Joubert_syndrome_9/15,_digenic 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A mondo_mondo_0010431_medgen_c2749019_omim_300804_orphanet_2754 Joubert syndrome 10 MONDO:MONDO:0010431,MedGen:C2749019,OMIM:300804,Orphanet:2754 1 1 1.0000 condition_record_support_limited 20 0 1 Joubert_syndrome_10 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D2A human_phenotype_ontology_hp_0001197_medgen_c4025797 Abnormality of prenatal development or birth Human_Phenotype_Ontology:HP:0001197,MedGen:C4025797 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_prenatal_development_or_birth 328 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D1A human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Visual impairment Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 1.0000 condition_record_support_limited 20 0 1 Visual_impairment 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D1A mondo_mondo_0030985_medgen_c5543229_omim_619245 Premature ovarian failure 19 MONDO:MONDO:0030985,MedGen:C5543229,OMIM:619245 1 1 1.0000 condition_record_support_limited 20 0 1 Premature_ovarian_failure_19 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D1A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D1A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D1A human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D1A human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_palsy 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D1A mondo_mondo_0019502_medgen_c5680181_omim_ps249500_orphanet_88616 Autosomal recessive non-syndromic intellectual disability MONDO:MONDO:0019502,MedGen:C5680181,OMIM:PS249500,Orphanet:88616 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_non-syndromic_intellectual_disability 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CC2D1A human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBS thoracic_aortic_aneurysm_or_dissection Thoracic aortic aneurysm or dissection . 1 1 1.0000 condition_record_support_limited 20 0 1 Thoracic_aortic_aneurysm_or_dissection 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBS human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBS mondo_mondo_0004743_medgen_c0598608_omim_603174 Hyperhomocysteinemia MONDO:MONDO:0004743,MedGen:C0598608,OMIM:603174 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperhomocysteinemia 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBS mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 1 1 1.0000 condition_record_support_limited 20 0 1 Connective_tissue_disorder 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBS human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_metabolism/homeostasis 280 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBL mondo_mondo_0008104_medgen_c4551602_omim_163950_orphanet_648 Noonan syndrome 1 MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648 1 1 1.0000 condition_record_support_limited 20 0 1 Noonan_syndrome_1 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBL mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBL mondo_mondo_0018171_medgen_c0346180_omim_603737_orphanet_35807 Malignant germ cell tumor of ovary MONDO:MONDO:0018171,MedGen:C0346180,OMIM:603737,Orphanet:35807 1 1 1.0000 condition_record_support_limited 20 0 1 Malignant_germ_cell_tumor_of_ovary 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CBL fragile_site_11b Fragile site 11b MedGen:CN296118,OMIM:600651 1 1 1.0000 condition_record_support_limited 20 0 1 Fragile_site_11b 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAVIN1 human_phenotype_ontology_hp_0009059_mondo_mondo_0006536_medgen_c0221032_omim_ps608594 Congenital generalized lipodystrophy Human_Phenotype_Ontology:HP:0009059,MONDO:MONDO:0006536,MedGen:C0221032,OMIM:PS608594 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_generalized_lipodystrophy 16 low_record_burden_interpretation_limited low_record_burden_gene CAVIN1 cavin1_related_disorder CAVIN1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CAVIN1-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene CAV3 mondo_mondo_0008051_medgen_c0410207_omim_ps160565_orphanet_2593 Myopathy with tubular aggregates MONDO:MONDO:0008051,MedGen:C0410207,OMIM:PS160565,Orphanet:2593 1 1 1.0000 condition_record_support_limited 20 0 1 Myopathy_with_tubular_aggregates 26 compact_adjacent_exon_block_opportunity local_compact_architecture CAV3 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 26 compact_adjacent_exon_block_opportunity local_compact_architecture CAV3 cav3_related_disorder CAV3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CAV3-related_disorder 26 compact_adjacent_exon_block_opportunity local_compact_architecture CAV3 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_musculature 26 compact_adjacent_exon_block_opportunity local_compact_architecture CAV1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 12 low_record_burden_interpretation_limited low_record_burden_gene CAV1 cav1_related_disorder CAV1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CAV1-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene CATSPERB human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility 1 low_record_burden_interpretation_limited low_record_burden_gene CATIP mondo_mondo_0023664_medgen_c5543570_omim_619379 Spermatogenic failure 54 MONDO:MONDO:0023664,MedGen:C5543570,OMIM:619379 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_54 1 low_record_burden_interpretation_limited low_record_burden_gene CAT condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene CAT mondo_mondo_0013571_medgen_c0268419_omim_614097_orphanet_926 Acatalasia MONDO:MONDO:0013571,MedGen:C0268419,OMIM:614097,Orphanet:926 1 1 1.0000 condition_record_support_limited 20 0 0 Acatalasia 4 low_record_burden_interpretation_limited low_record_burden_gene CASZ1 casz1_related_dilated_cardiomyopathy CASZ1-related dilated cardiomyopathy . 1 1 1.0000 condition_record_support_limited 20 0 0 CASZ1-related_dilated_cardiomyopathy 7 low_record_burden_interpretation_limited low_record_burden_gene CASZ1 casz1_associated_cardiomyopathy CASZ1-associated cardiomyopathy . 1 1 1.0000 condition_record_support_limited 20 0 0 CASZ1-associated_cardiomyopathy 7 low_record_burden_interpretation_limited low_record_burden_gene CAST human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 1.0000 condition_record_support_limited 20 0 0 Obesity 51 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture CAST medgen_c4013980 Early onset severe obesity MedGen:C4013980 1 1 1.0000 condition_record_support_limited 20 0 0 Early_onset_severe_obesity 51 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture CASR human_phenotype_ontology_hp_0008200_human_phenotype_ontology_hp_0008254_mondo_mondo_0010837_medgen_c0221002 Primary hyperparathyroidism Human_Phenotype_Ontology:HP:0008200,Human_Phenotype_Ontology:HP:0008254,MONDO:MONDO:0010837,MedGen:C0221002 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_hyperparathyroidism 313 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASR human_phenotype_ontology_hp_0002897_human_phenotype_ontology_hp_0008257_mondo_mondo_0006890_medgen_c0262587 Parathyroid gland adenoma Human_Phenotype_Ontology:HP:0002897,Human_Phenotype_Ontology:HP:0008257,MONDO:MONDO:0006890,MedGen:C0262587 1 1 1.0000 condition_record_support_limited 20 0 1 Parathyroid_gland_adenoma 313 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASR mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 313 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASR human_phenotype_ontology_hp_0003127_medgen_c0020599 Hypocalciuria Human_Phenotype_Ontology:HP:0003127,MedGen:C0020599 1 1 1.0000 condition_record_support_limited 20 0 1 Hypocalciuria 313 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASR human_phenotype_ontology_hp_0002901_medgen_c0020598 Hypocalcemia Human_Phenotype_Ontology:HP:0002901,MedGen:C0020598 1 1 1.0000 condition_record_support_limited 20 0 1 Hypocalcemia 313 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASR human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrophic_cardiomyopathy 313 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASR human_phenotype_ontology_hp_0003072_mondo_mondo_0001566_medgen_c0020437 Hypercalcemia Human_Phenotype_Ontology:HP:0003072,MONDO:MONDO:0001566,MedGen:C0020437 1 1 1.0000 condition_record_support_limited 20 0 1 Hypercalcemia 313 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASR casr_related_calcium_metabolism_disorders CASR-related calcium metabolism disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 CASR-related_calcium_metabolism_disorders 313 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASQ2 human_phenotype_ontology_hp_0001716_mondo_mondo_0008685_medgen_c0043202_omim_194200 Wolff-Parkinson-White pattern Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200 1 1 1.0000 condition_record_support_limited 20 0 1 Wolff-Parkinson-White_pattern 79 compact_adjacent_exon_block_opportunity local_compact_architecture CASQ2 mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 1.0000 condition_record_support_limited 20 0 1 Long_QT_syndrome 79 compact_adjacent_exon_block_opportunity local_compact_architecture CASQ1 mondo_mondo_0008051_medgen_c0410207_omim_ps160565_orphanet_2593 Myopathy with tubular aggregates MONDO:MONDO:0008051,MedGen:C0410207,OMIM:PS160565,Orphanet:2593 1 1 1.0000 condition_record_support_limited 20 0 0 Myopathy_with_tubular_aggregates 5 low_record_burden_interpretation_limited low_record_burden_gene CASP8 mondo_mondo_0008903_medgen_c0242379_omim_211980 Lung cancer MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 1 1 1.0000 condition_record_support_limited 20 0 0 Lung_cancer 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASP8 human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Hepatocellular carcinoma Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 1 1 1.0000 condition_record_support_limited 20 0 0 Hepatocellular_carcinoma 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASP10 susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 5 low_record_burden_interpretation_limited low_record_burden_gene CASP10 human_phenotype_ontology_hp_0012126_mondo_mondo_0001056_mesh_d013274_medgen_c0024623_omim_613659 Gastric cancer Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659 1 1 1.0000 condition_record_support_limited 20 0 1 Gastric_cancer 5 low_record_burden_interpretation_limited low_record_burden_gene CASP10 mondo_mondo_0011383_medgen_c1858968_omim_603909_orphanet_3261 Autoimmune lymphoproliferative syndrome type 2A MONDO:MONDO:0011383,MedGen:C1858968,OMIM:603909,Orphanet:3261 1 1 1.0000 condition_record_support_limited 20 0 0 Autoimmune_lymphoproliferative_syndrome_type_2A 5 low_record_burden_interpretation_limited low_record_burden_gene CASK mondo_mondo_0020119_medgen_cn228426_omim_ps309510 X-linked syndromic intellectual disability MONDO:MONDO:0020119,MedGen:CN228426,OMIM:PS309510 1 1 1.0000 condition_record_support_limited 20 0 0 X-linked_syndromic_intellectual_disability 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASK smith_magenis_syndrome_like Smith-Magenis Syndrome-like . 1 1 1.0000 condition_record_support_limited 20 0 1 Smith-Magenis_Syndrome-like 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASK human_phenotype_ontology_hp_0011451_medgen_c2677180 Primary microcephaly Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_microcephaly 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASK human_phenotype_ontology_hp_0002540_medgen_c0560046 Inability to walk Human_Phenotype_Ontology:HP:0002540,MedGen:C0560046 1 1 1.0000 condition_record_support_limited 20 0 1 Inability_to_walk 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASK human_phenotype_ontology_hp_0001276_human_phenotype_ontology_hp_0002388_medgen_c0026826 Hypertonia Human_Phenotype_Ontology:HP:0001276,Human_Phenotype_Ontology:HP:0002388,MedGen:C0026826 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertonia 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASK human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASK mondo_mondo_0100062_medgen_cn379639_omim_ps308350 Genetic developmental and epileptic encephalopathy MONDO:MONDO:0100062,MedGen:CN379639,OMIM:PS308350 1 1 1.0000 condition_record_support_limited 20 0 0 Genetic_developmental_and_epileptic_encephalopathy 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASK human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 1.0000 condition_record_support_limited 20 0 1 Dystonic_disorder 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASK mondo_mondo_0015270_medgen_c1283400_omim_617936_orphanet_132 Deficiency of butyrylcholinesterase MONDO:MONDO:0015270,MedGen:C1283400,OMIM:617936,Orphanet:132 1 1 1.0000 condition_record_support_limited 20 0 1 Deficiency_of_butyrylcholinesterase 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASK cask_related_intellectual_disability_and_microcephaly_with_pontine_and_cerebellar_hypoplasia CASK-related intellectual disability and microcephaly with pontine and cerebellar hypoplasia . 1 1 1.0000 condition_record_support_limited 20 0 0 CASK-related_intellectual_disability_and_microcephaly_with_pontine_and_cerebellar_hypoplasia 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASK human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 190 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CASD1 mondo_mondo_0000903_medgen_cn295306_orphanet_36899 Myoclonus-dystonia syndrome MONDO:MONDO:0000903,MedGen:CN295306,Orphanet:36899 1 1 1.0000 condition_record_support_limited 20 0 1 Myoclonus-dystonia_syndrome 153 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CARS2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene CARS2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 4 low_record_burden_interpretation_limited low_record_burden_gene CARNMT1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene CARMIL2 human_phenotype_ontology_hp_0100281_medgen_c0267375 Chronic colitis Human_Phenotype_Ontology:HP:0100281,MedGen:C0267375 1 1 1.0000 condition_record_support_limited 20 0 1 Chronic_colitis 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CARMIL2 mondo_mondo_0017265_medgen_c1274215_omim_ps242300_orphanet_281097 Autosomal recessive congenital ichthyosis MONDO:MONDO:0017265,MedGen:C1274215,OMIM:PS242300,Orphanet:281097 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_congenital_ichthyosis 81 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CARD9 mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 1 1 1.0000 condition_record_support_limited 20 0 0 Inherited_Immunodeficiency_Diseases 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CARD8 mondo_mondo_0033643_medgen_c5436750_omim_619079 Inflammatory bowel disease 30 MONDO:MONDO:0033643,MedGen:C5436750,OMIM:619079 1 1 1.0000 condition_record_support_limited 20 0 0 Inflammatory_bowel_disease_30 1 low_record_burden_interpretation_limited low_record_burden_gene CARD14 mondo_mondo_0018937_medgen_c0026706_orphanet_581 Sanfilippo syndrome MONDO:MONDO:0018937,MedGen:C0026706,Orphanet:581 1 1 1.0000 condition_record_support_limited 20 0 1 Sanfilippo_syndrome 16 low_record_burden_interpretation_limited low_record_burden_gene CARD14 sgsh_related_disorder SGSH-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SGSH-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene CARD14 medgen_c4017074 PSORIASIS 2, PUSTULAR MedGen:C4017074 1 1 1.0000 condition_record_support_limited 20 0 1 PSORIASIS_2,_PUSTULAR 16 low_record_burden_interpretation_limited low_record_burden_gene CARD14 human_phenotype_ontology_hp_0002180_mondo_mondo_0005559_medgen_c0027746 Neurodegeneration Human_Phenotype_Ontology:HP:0002180,MONDO:MONDO:0005559,MedGen:C0027746 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodegeneration 16 low_record_burden_interpretation_limited low_record_burden_gene CARD14 mondo_mondo_0009655_medgen_c0086647_omim_252900_orphanet_581_orphanet_79269 Mucopolysaccharidosis, MPS-III-A MONDO:MONDO:0009655,MedGen:C0086647,OMIM:252900,Orphanet:581,Orphanet:79269 1 1 1.0000 condition_record_support_limited 20 0 1 Mucopolysaccharidosis,_MPS-III-A 16 low_record_burden_interpretation_limited low_record_burden_gene CARD14 mondo_mondo_0019249_mesh_d009083_medgen_c0026703_omim_ps607014_orphanet_79213 Mucopolysaccharidosis MONDO:MONDO:0019249,MeSH:D009083,MedGen:C0026703,OMIM:PS607014,Orphanet:79213 1 1 1.0000 condition_record_support_limited 20 0 1 Mucopolysaccharidosis 16 low_record_burden_interpretation_limited low_record_burden_gene CARD14 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 16 low_record_burden_interpretation_limited low_record_burden_gene CARD11 human_phenotype_ontology_hp_0001744_human_phenotype_ontology_hp_0001745_human_phenotype_ontology_hp_0006269_medgen_c0038002 Splenomegaly Human_Phenotype_Ontology:HP:0001744,Human_Phenotype_Ontology:HP:0001745,Human_Phenotype_Ontology:HP:0006269,MedGen:C0038002 1 1 1.0000 condition_record_support_limited 20 0 1 Splenomegaly 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CARD11 human_phenotype_ontology_hp_0000938_human_phenotype_ontology_hp_0002768_human_phenotype_ontology_hp_0002799_human_phenotype_ontology_hp_0002800_medgen_c0029453 Osteopenia Human_Phenotype_Ontology:HP:0000938,Human_Phenotype_Ontology:HP:0002768,Human_Phenotype_Ontology:HP:0002799,Human_Phenotype_Ontology:HP:0002800,MedGen:C0029453 1 1 1.0000 condition_record_support_limited 20 0 1 Osteopenia 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CARD11 human_phenotype_ontology_hp_0002099_human_phenotype_ontology_hp_0002112_mondo_mondo_0004979_medgen_c0004096 Asthma Human_Phenotype_Ontology:HP:0002099,Human_Phenotype_Ontology:HP:0002112,MONDO:MONDO:0004979,MedGen:C0004096 1 1 1.0000 condition_record_support_limited 20 0 1 Asthma 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CARD10 mondo_mondo_0030484_medgen_c5562027_omim_619632 Immunodeficiency 89 and autoimmunity MONDO:MONDO:0030484,MedGen:C5562027,OMIM:619632 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_89_and_autoimmunity 1 low_record_burden_interpretation_limited low_record_burden_gene CAPZA2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 2 low_record_burden_interpretation_limited low_record_burden_gene CAPRIN1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPRIN1 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPRIN1 human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Moderate intellectual disability Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 1 1 1.0000 condition_record_support_limited 20 0 1 Moderate_intellectual_disability 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPRIN1 human_phenotype_ontology_hp_0011343_medgen_c2237142 Moderate global developmental delay Human_Phenotype_Ontology:HP:0011343,MedGen:C2237142 1 1 1.0000 condition_record_support_limited 20 0 1 Moderate_global_developmental_delay 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPRIN1 mondo_mondo_0009696_medgen_c0270853_omim_ps254770_orphanet_307 Juvenile myoclonic epilepsy MONDO:MONDO:0009696,MedGen:C0270853,OMIM:PS254770,Orphanet:307 1 1 1.0000 condition_record_support_limited 20 0 0 Juvenile_myoclonic_epilepsy 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPRIN1 human_phenotype_ontology_hp_0002358_human_phenotype_ontology_hp_0007359_medgen_c0751495 Focal-onset seizure Human_Phenotype_Ontology:HP:0002358,Human_Phenotype_Ontology:HP:0007359,MedGen:C0751495 1 1 1.0000 condition_record_support_limited 20 0 1 Focal-onset_seizure 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPRIN1 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 1 Epileptic_encephalopathy 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPRIN1 caprin1_related_neurodevelopmental_disorders CAPRIN1-related neurodevelopmental disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 CAPRIN1-related_neurodevelopmental_disorders 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPRIN1 caprin1_related_disorder CAPRIN1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CAPRIN1-related_disorder 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPRIN1 human_phenotype_ontology_hp_0000729_medgen_c0856975 Autistic behavior Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975 1 1 1.0000 condition_record_support_limited 20 0 1 Autistic_behavior 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPRIN1 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN6 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 2 low_record_burden_interpretation_limited low_record_burden_gene CAPN6 mondo_mondo_0003233_medgen_c0270736_omim_ps190300 Essential tremor MONDO:MONDO:0003233,MedGen:C0270736,OMIM:PS190300 1 1 1.0000 condition_record_support_limited 20 0 0 Essential_tremor 2 low_record_burden_interpretation_limited low_record_burden_gene CAPN5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 4 low_record_burden_interpretation_limited low_record_burden_gene CAPN5 capn5_related_disorder CAPN5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CAPN5-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene CAPN5 mondo_mondo_0100450_medgen_c4721549_orphanet_329211 Autosomal dominant neovascular inflammatory vitreoretinopathy MONDO:MONDO:0100450,MedGen:C4721549,Orphanet:329211 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_neovascular_inflammatory_vitreoretinopathy 4 low_record_burden_interpretation_limited low_record_burden_gene CAPN3 human_phenotype_ontology_hp_0003547_human_phenotype_ontology_hp_0003695_human_phenotype_ontology_hp_0009009_medgen_c0427063 Shoulder girdle muscle weakness Human_Phenotype_Ontology:HP:0003547,Human_Phenotype_Ontology:HP:0003695,Human_Phenotype_Ontology:HP:0009009,MedGen:C0427063 1 1 1.0000 condition_record_support_limited 20 0 1 Shoulder_girdle_muscle_weakness 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 medgen_c5680830_orphanet_207104 Qualitative or quantitative defects of calpain MedGen:C5680830,Orphanet:207104 1 1 1.0000 condition_record_support_limited 20 0 1 Qualitative_or_quantitative_defects_of_calpain 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 medgen_c1299884 Myositis, eosinophilic MedGen:C1299884 1 1 1.0000 condition_record_support_limited 20 0 1 Myositis,_eosinophilic 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 limb_girdle_muscular_dystrophy_recessive Limb-girdle muscular dystrophy, recessive MedGen:CN239352 1 1 1.0000 condition_record_support_limited 20 0 1 Limb-girdle_muscular_dystrophy,_recessive 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 human_phenotype_ontology_hp_0003325_human_phenotype_ontology_hp_0008971_medgen_c1858127 Limb-girdle muscle weakness Human_Phenotype_Ontology:HP:0003325,Human_Phenotype_Ontology:HP:0008971,MedGen:C1858127 1 1 1.0000 condition_record_support_limited 20 0 1 Limb-girdle_muscle_weakness 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 human_phenotype_ontology_hp_0003322_human_phenotype_ontology_hp_0003458_human_phenotype_ontology_hp_0003711_human_phenotype_ontology_hp_0009021_medgen_c4021726 EMG: myopathic abnormalities Human_Phenotype_Ontology:HP:0003322,Human_Phenotype_Ontology:HP:0003458,Human_Phenotype_Ontology:HP:0003711,Human_Phenotype_Ontology:HP:0009021,MedGen:C4021726 1 1 1.0000 condition_record_support_limited 20 0 1 EMG:_myopathic_abnormalities 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 human_phenotype_ontology_hp_0003741_human_phenotype_ontology_hp_0003793_mondo_mondo_0019950_medgen_c0699743_orphanet_97242 Congenital muscular dystrophy Human_Phenotype_Ontology:HP:0003741,Human_Phenotype_Ontology:HP:0003793,MONDO:MONDO:0019950,MedGen:C0699743,Orphanet:97242 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_muscular_dystrophy 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 human_phenotype_ontology_hp_0003703_human_phenotype_ontology_hp_0008981_human_phenotype_ontology_hp_0009024_medgen_c1843057 Calf muscle hypertrophy Human_Phenotype_Ontology:HP:0003703,Human_Phenotype_Ontology:HP:0008981,Human_Phenotype_Ontology:HP:0009024,MedGen:C1843057 1 1 1.0000 condition_record_support_limited 20 0 1 Calf_muscle_hypertrophy 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN3 mondo_mondo_0006025_medgen_c0265388 Autosomal recessive disease MONDO:MONDO:0006025,MedGen:C0265388 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_disease 509 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAPN15 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene CAPN10 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene CAPN10 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 4 low_record_burden_interpretation_limited low_record_burden_gene CAPN10 mondo_mondo_0011027_medgen_c1832544_omim_601283 Diabetes mellitus, noninsulin-dependent, 1 MONDO:MONDO:0011027,MedGen:C1832544,OMIM:601283 1 1 1.0000 condition_record_support_limited 20 0 0 Diabetes_mellitus,_noninsulin-dependent,_1 4 low_record_burden_interpretation_limited low_record_burden_gene CAPN10 capn10_related_disorder CAPN10-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CAPN10-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene CAPN1 mondo_mondo_0011445_medgen_c1858479_omim_604360_orphanet_2822 Hereditary spastic paraplegia 11 MONDO:MONDO:0011445,MedGen:C1858479,OMIM:604360,Orphanet:2822 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia_11 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CANT1 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CANT1 human_phenotype_ontology_hp_0002654_mondo_mondo_0016648_medgen_c0026760_omim_ps132400_orphanet_251 Multiple epiphyseal dysplasia Human_Phenotype_Ontology:HP:0002654,MONDO:MONDO:0016648,MedGen:C0026760,OMIM:PS132400,Orphanet:251 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_epiphyseal_dysplasia 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CANT1 human_phenotype_ontology_hp_0001373_human_phenotype_ontology_hp_0002772_medgen_c0012691 Joint dislocation Human_Phenotype_Ontology:HP:0001373,Human_Phenotype_Ontology:HP:0002772,MedGen:C0012691 1 1 1.0000 condition_record_support_limited 20 0 1 Joint_dislocation 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CANT1 human_phenotype_ontology_hp_0000924_medgen_c4021790 Abnormality of the skeletal system Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_skeletal_system 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAMTA1 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAMTA1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 97 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAMK4 human_phenotype_ontology_hp_0004305_human_phenotype_ontology_hp_0007120_medgen_c0427086 Involuntary movements Human_Phenotype_Ontology:HP:0004305,Human_Phenotype_Ontology:HP:0007120,MedGen:C0427086 1 1 1.0000 condition_record_support_limited 20 0 1 Involuntary_movements 2 low_record_burden_interpretation_limited low_record_burden_gene CAMK4 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 2 low_record_burden_interpretation_limited low_record_burden_gene CAMK2G condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 6 low_record_burden_interpretation_limited low_record_burden_gene CAMK2G human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 6 low_record_burden_interpretation_limited low_record_burden_gene CAMK2G human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 6 low_record_burden_interpretation_limited low_record_burden_gene CAMK2G human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 6 low_record_burden_interpretation_limited low_record_burden_gene CAMK2G human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 6 low_record_burden_interpretation_limited low_record_burden_gene CAMK2D mondo_mondo_1040008_medgen_cn378761 CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy MONDO:MONDO:1040008,MedGen:CN378761 1 1 1.0000 condition_record_support_limited 20 0 0 CAMK2D-related_neurodevelopmental_disorder_and_dilated_cardiomyopathy 9 low_record_burden_interpretation_limited low_record_burden_gene CAMK2D camk2d_related_condition CAMK2D-related condition . 1 1 1.0000 condition_record_support_limited 20 0 1 CAMK2D-related_condition 9 low_record_burden_interpretation_limited low_record_burden_gene CAMK2B human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 17 low_record_burden_interpretation_limited low_record_burden_gene CAMK2B human_phenotype_ontology_hp_0002883_medgen_c0020578 Hyperventilation Human_Phenotype_Ontology:HP:0002883,MedGen:C0020578 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperventilation 17 low_record_burden_interpretation_limited low_record_burden_gene CAMK2B human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 17 low_record_burden_interpretation_limited low_record_burden_gene CAMK2B human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 1.0000 condition_record_support_limited 20 0 1 Dystonic_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene CAMK2B human_phenotype_ontology_hp_0002104_human_phenotype_ontology_hp_0005936_human_phenotype_ontology_hp_0005958_medgen_c0003578 Apnea Human_Phenotype_Ontology:HP:0002104,Human_Phenotype_Ontology:HP:0005936,Human_Phenotype_Ontology:HP:0005958,MedGen:C0003578 1 1 1.0000 condition_record_support_limited 20 0 1 Apnea 17 low_record_burden_interpretation_limited low_record_burden_gene CAMK2B human_phenotype_ontology_hp_0000713_medgen_c0085631 Agitation Human_Phenotype_Ontology:HP:0000713,MedGen:C0085631 1 1 1.0000 condition_record_support_limited 20 0 1 Agitation 17 low_record_burden_interpretation_limited low_record_burden_gene CAMK2B human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 17 low_record_burden_interpretation_limited low_record_burden_gene CAMK2A human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CAMK1D human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene CALU medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene CALM2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene CALM2 efo_the_experimental_factor_ontology_efo_0005303_mesh_d013398_medgen_c0038644_omim_272120 SUDDEN INFANT DEATH SYNDROME EFO:_The_Experimental_Factor_Ontology:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120 1 1 1.0000 condition_record_support_limited 20 0 0 SUDDEN_INFANT_DEATH_SYNDROME 19 low_record_burden_interpretation_limited low_record_burden_gene CALM2 mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 1.0000 condition_record_support_limited 20 0 1 Long_QT_syndrome 19 low_record_burden_interpretation_limited low_record_burden_gene CALM2 cardiovascular_phenotype Cardiovascular phenotype MedGen:CN230736 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiovascular_phenotype 19 low_record_burden_interpretation_limited low_record_burden_gene CALM1 mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 1.0000 condition_record_support_limited 20 0 0 Long_QT_syndrome 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CALM1 mondo_mondo_0017990_medgen_c5574922_omim_ps604772_orphanet_3286 Catecholaminergic polymorphic ventricular tachycardia MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286 1 1 1.0000 condition_record_support_limited 20 0 1 Catecholaminergic_polymorphic_ventricular_tachycardia 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CALHM1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene CALCRL mondo_mondo_0032907_medgen_c5231496_omim_618773 Lymphatic malformation 8 MONDO:MONDO:0032907,MedGen:C5231496,OMIM:618773 1 1 1.0000 condition_record_support_limited 20 0 0 Lymphatic_malformation_8 1 low_record_burden_interpretation_limited low_record_burden_gene CADM3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene CADM3 mondo_mondo_0030433_medgen_c5561981_omim_619519 Charcot-Marie-Tooth disease, axonal, type 2FF MONDO:MONDO:0030433,MedGen:C5561981,OMIM:619519 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease,_axonal,_type_2FF 1 low_record_burden_interpretation_limited low_record_burden_gene CACUL1 human_phenotype_ontology_hp_0001371_human_phenotype_ontology_hp_0001372_human_phenotype_ontology_hp_0001381_human_phenotype_ontology_hp_0005053_human_phenotype_ontology_hp_0005189_human_phenotype_ontology_hp_0005660_medgen_c0333068 Flexion contracture Human_Phenotype_Ontology:HP:0001371,Human_Phenotype_Ontology:HP:0001372,Human_Phenotype_Ontology:HP:0001381,Human_Phenotype_Ontology:HP:0005053,Human_Phenotype_Ontology:HP:0005189,Human_Phenotype_Ontology:HP:0005660,MedGen:C0333068 1 1 1.0000 condition_record_support_limited 20 0 0 Flexion_contracture 1 low_record_burden_interpretation_limited low_record_burden_gene CACNG7 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene CACNB4 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia 3 low_record_burden_interpretation_limited low_record_burden_gene CACNB1 mondo_mondo_0014101_medgen_c3808964_omim_615249_orphanet_899 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:MONDO:0014101,MedGen:C3808964,OMIM:615249,Orphanet:899 1 1 1.0000 condition_record_support_limited 20 0 0 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_12 2 low_record_burden_interpretation_limited low_record_burden_gene CACNB1 congenital_muscular_disorder Congenital muscular disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_muscular_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene CACNA2D4 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 4 low_record_burden_interpretation_limited low_record_burden_gene CACNA2D4 mondo_mondo_0012507_medgen_c1864849_omim_610478_orphanet_1872 Retinal cone dystrophy 4 MONDO:MONDO:0012507,MedGen:C1864849,OMIM:610478,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_cone_dystrophy_4 4 low_record_burden_interpretation_limited low_record_burden_gene CACNA2D2 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 0 Epileptic_encephalopathy 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNA2D2 mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CACNA1S mondo_mondo_0800188_medgen_c5437603_omim_ps145600 Malignant hyperthermia, susceptibility to MONDO:MONDO:0800188,MedGen:C5437603,OMIM:PS145600 1 1 1.0000 condition_record_support_limited 20 0 0 Malignant_hyperthermia,_susceptibility_to 126 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1S human_phenotype_ontology_hp_0034733_mondo_mondo_0018493_medgen_c0024591_orphanet_423 Malignant hyperthermia of anesthesia Human_Phenotype_Ontology:HP:0034733,MONDO:MONDO:0018493,MedGen:C0024591,Orphanet:423 1 1 1.0000 condition_record_support_limited 20 0 1 Malignant_hyperthermia_of_anesthesia 126 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1S mondo_mondo_0002442_mesh_d008133_medgen_c0023976 Long QT syndrome MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976 1 1 1.0000 condition_record_support_limited 20 0 0 Long_QT_syndrome 126 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1S mondo_mondo_0008223_medgen_c0238358_orphanet_681 Hypokalemic periodic paralysis MONDO:MONDO:0008223,MedGen:C0238358,Orphanet:681 1 1 1.0000 condition_record_support_limited 20 0 1 Hypokalemic_periodic_paralysis 126 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1S cacna1s_related_disorder CACNA1S-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 CACNA1S-related_disorder 126 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1H mondo_mondo_0005579_medgen_c0270850_omim_600669_omim_ps600669 Idiopathic generalized epilepsy MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669 1 1 1.0000 condition_record_support_limited 20 0 1 Idiopathic_generalized_epilepsy 8 low_record_burden_interpretation_limited low_record_burden_gene CACNA1H mondo_mondo_0012763_medgen_c2749872_omim_611942_orphanet_64280 Epilepsy, childhood absence, susceptibility to, 6 MONDO:MONDO:0012763,MedGen:C2749872,OMIM:611942,Orphanet:64280 1 1 1.0000 condition_record_support_limited 20 0 0 Epilepsy,_childhood_absence,_susceptibility_to,_6 8 low_record_burden_interpretation_limited low_record_burden_gene CACNA1H human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 8 low_record_burden_interpretation_limited low_record_burden_gene CACNA1G human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1G human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1G human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1G mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1G human_phenotype_ontology_hp_0001007_medgen_c0019572 Hirsutism Human_Phenotype_Ontology:HP:0001007,MedGen:C0019572 1 1 1.0000 condition_record_support_limited 20 0 1 Hirsutism 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1G cacna1g_related_disorder CACNA1G-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CACNA1G-related_disorder 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1G human_phenotype_ontology_hp_0000924_medgen_c4021790 Abnormality of the skeletal system Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_skeletal_system 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1G human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1F human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 189 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1F medgen_c0271092 Progressive cone dystrophy (without rod involvement) MedGen:C0271092 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_cone_dystrophy_(without_rod_involvement) 189 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1F human_phenotype_ontology_hp_0000545_human_phenotype_ontology_hp_0001110_human_phenotype_ontology_hp_0007847_mondo_mondo_0001384_medgen_c0027092_omim_ps160700 Myopia Human_Phenotype_Ontology:HP:0000545,Human_Phenotype_Ontology:HP:0001110,Human_Phenotype_Ontology:HP:0007847,MONDO:MONDO:0001384,MedGen:C0027092,OMIM:PS160700 1 1 1.0000 condition_record_support_limited 20 0 1 Myopia 189 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1F mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 189 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1F medgen_c4016457 Congenital stationary night blindness, type 2A, severe MedGen:C4016457 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_stationary_night_blindness,_type_2A,_severe 189 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1F mondo_mondo_0700243_medgen_cn375918 CACNA1F-related retinopathy MONDO:MONDO:0700243,MedGen:CN375918 1 1 1.0000 condition_record_support_limited 20 0 0 CACNA1F-related_retinopathy 189 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1F human_phenotype_ontology_hp_0000646_mondo_mondo_0001020_medgen_c0002418 Amblyopia Human_Phenotype_Ontology:HP:0000646,MONDO:MONDO:0001020,MedGen:C0002418 1 1 1.0000 condition_record_support_limited 20 0 1 Amblyopia 189 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1F human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_eye 189 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1E mondo_mondo_0007333_medgen_c4551864_omim_119300 Van der Woude syndrome 1 MONDO:MONDO:0007333,MedGen:C4551864,OMIM:119300 1 1 1.0000 condition_record_support_limited 20 0 1 Van_der_Woude_syndrome_1 33 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1E cacna1e_related_disorder CACNA1E-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CACNA1E-related_disorder 33 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1D mondo_mondo_0859223_medgen_c5562068_omim_619714 Congenital disorder of glycosylation, type Iw, autosomal dominant MONDO:MONDO:0859223,MedGen:C5562068,OMIM:619714 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_disorder_of_glycosylation,_type_Iw,_autosomal_dominant 21 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1C mondo_mondo_0011376_medgen_c2751898_omim_603829_orphanet_228140 Ventricular fibrillation, paroxysmal familial, type 1 MONDO:MONDO:0011376,MedGen:C2751898,OMIM:603829,Orphanet:228140 1 1 1.0000 condition_record_support_limited 20 0 1 Ventricular_fibrillation,_paroxysmal_familial,_type_1 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1C human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 0 Seizure 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1C mondo_mondo_0060596_medgen_c4540327_omim_617755_orphanet_686482 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies MONDO:MONDO:0060596,MedGen:C4540327,OMIM:617755,Orphanet:686482 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_dysmorphic_facies_and_distal_limb_anomalies 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1C human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1C mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1C human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1C mondo_mondo_0008647_medgen_c3495498_omim_192600 Hypertrophic cardiomyopathy 1 MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrophic_cardiomyopathy_1 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1C mondo_mondo_0100042_medgen_c0264886_omim_115080_orphanet_871 Conduction disorder of the heart MONDO:MONDO:0100042,MedGen:C0264886,OMIM:115080,Orphanet:871 1 1 1.0000 condition_record_support_limited 20 0 0 Conduction_disorder_of_the_heart 97 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1B cacna1b_related_disorder CACNA1B-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CACNA1B-related_disorder 54 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 1.0000 condition_record_support_limited 20 0 0 Tip-toe_gait 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 1.0000 condition_record_support_limited 20 0 1 Strabismus 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A mondo_mondo_0020757_medgen_c1832903 Sporadic hemiplegic migraine MONDO:MONDO:0020757,MedGen:C1832903 1 1 1.0000 condition_record_support_limited 20 0 1 Sporadic_hemiplegic_migraine 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A human_phenotype_ontology_hp_0002205_human_phenotype_ontology_hp_0002782_human_phenotype_ontology_hp_0002873_medgen_c3806482 Recurrent respiratory infections Human_Phenotype_Ontology:HP:0002205,Human_Phenotype_Ontology:HP:0002782,Human_Phenotype_Ontology:HP:0002873,MedGen:C3806482 1 1 1.0000 condition_record_support_limited 20 0 1 Recurrent_respiratory_infections 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A non_progressive_congenital_cerebellar_ataxia Non-progressive congenital cerebellar ataxia . 1 1 1.0000 condition_record_support_limited 20 0 1 Non-progressive_congenital_cerebellar_ataxia 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A mondo_mondo_0859286_medgen_c5774213_omim_620029 Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures MONDO:MONDO:0859286,MedGen:C5774213,OMIM:620029 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_hypotonia,_language_delay,_and_skeletal_defects_with_or_without_seizures 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A medgen_c1832885 Migraine, sporadic hemiplegic, with progressive cerebellar ataxia MedGen:C1832885 1 1 1.0000 condition_record_support_limited 20 0 1 Migraine,_sporadic_hemiplegic,_with_progressive_cerebellar_ataxia 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A human_phenotype_ontology_hp_0002076_human_phenotype_ontology_hp_0007194_mondo_mondo_0005277_medgen_c0149931 Migraine Human_Phenotype_Ontology:HP:0002076,Human_Phenotype_Ontology:HP:0007194,MONDO:MONDO:0005277,MedGen:C0149931 1 1 1.0000 condition_record_support_limited 20 0 1 Migraine 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A human_phenotype_ontology_hp_0002066_human_phenotype_ontology_hp_0002379_medgen_c0751837 Gait ataxia Human_Phenotype_Ontology:HP:0002066,Human_Phenotype_Ontology:HP:0002379,MedGen:C0751837 1 1 1.0000 condition_record_support_limited 20 0 1 Gait_ataxia 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A mondo_mondo_0005384_mesh_d004828_medgen_c0014547 Focal epilepsy MONDO:MONDO:0005384,MeSH:D004828,MedGen:C0014547 1 1 1.0000 condition_record_support_limited 20 0 1 Focal_epilepsy 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A human_phenotype_ontology_hp_0002175_human_phenotype_ontology_hp_0002373_human_phenotype_ontology_hp_0007102_medgen_c0009952 Febrile seizure (within the age range of 3 months to 6 years) Human_Phenotype_Ontology:HP:0002175,Human_Phenotype_Ontology:HP:0002373,Human_Phenotype_Ontology:HP:0007102,MedGen:C0009952 1 1 1.0000 condition_record_support_limited 20 0 1 Febrile_seizure_(within_the_age_range_of_3_months_to_6_years) 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A medgen_c4016713 Episodic ataxia, type 2, and epilepsy MedGen:C4016713 1 1 1.0000 condition_record_support_limited 20 0 1 Episodic_ataxia,_type_2,_and_epilepsy 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A human_phenotype_ontology_hp_0002280_mondo_mondo_0019953_medgen_c1853377_orphanet_97252 Enlarged cisterna magna Human_Phenotype_Ontology:HP:0002280,MONDO:MONDO:0019953,MedGen:C1853377,Orphanet:97252 1 1 1.0000 condition_record_support_limited 20 0 1 Enlarged_cisterna_magna 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A early_infantile_epileptic_encephalopathy_autosomal_dominant Early Infantile Epileptic Encephalopathy, Autosomal Dominant . 1 1 1.0000 condition_record_support_limited 20 0 1 Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A mondo_mondo_0002145_medgen_c2930619_orphanet_90771 Disorder of sexual differentiation MONDO:MONDO:0002145,MedGen:C2930619,Orphanet:90771 1 1 1.0000 condition_record_support_limited 20 0 0 Disorder_of_sexual_differentiation 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Delayed gross motor development Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_gross_motor_development 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A chronic_and_progressive_ataxia Chronic and progressive ataxia . 1 1 1.0000 condition_record_support_limited 20 0 1 Chronic_and_progressive_ataxia 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_palsy 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A human_phenotype_ontology_hp_0001272_human_phenotype_ontology_hp_0002364_human_phenotype_ontology_hp_0006839_human_phenotype_ontology_hp_0007072_human_phenotype_ontology_hp_0007203_medgen_c0740279 Cerebellar atrophy Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_atrophy 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A cacna1a_associated_disorders CACNA1A-associated disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 CACNA1A-associated_disorders 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A cacna1a_associated_disorder CACNA1A-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CACNA1A-associated_disorder 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A human_phenotype_ontology_hp_0001283_human_phenotype_ontology_hp_0003441_human_phenotype_ontology_hp_0003709_medgen_c4082299 Bulbar palsy Human_Phenotype_Ontology:HP:0001283,Human_Phenotype_Ontology:HP:0003441,Human_Phenotype_Ontology:HP:0003709,MedGen:C4082299 1 1 1.0000 condition_record_support_limited 20 0 1 Bulbar_palsy 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A mondo_mondo_0021944_medgen_c1852271_omim_ps609129 Auditory neuropathy MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129 1 1 1.0000 condition_record_support_limited 20 0 0 Auditory_neuropathy 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A ataxia_neurologic_child_onset Ataxia Neurologic (child onset) . 1 1 1.0000 condition_record_support_limited 20 0 1 Ataxia___Neurologic_(child_onset) 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A human_phenotype_ontology_hp_0001251_human_phenotype_ontology_hp_0001253_human_phenotype_ontology_hp_0002513_human_phenotype_ontology_hp_0007050_human_phenotype_ontology_hp_0007157_medgen_c0004134 Ataxia Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MedGen:C0004134 1 1 1.0000 condition_record_support_limited 20 0 1 Ataxia 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A mondo_mondo_0007087_medgen_c3549447_omim_104290_orphanet_2131 Alternating hemiplegia of childhood 1 MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131 1 1 1.0000 condition_record_support_limited 20 0 0 Alternating_hemiplegia_of_childhood_1 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CACNA1A human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 554 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture CABP4 mondo_mondo_0005328_medgen_c0015397 Disorder of eye MONDO:MONDO:0005328,MedGen:C0015397 1 1 1.0000 condition_record_support_limited 20 0 1 Disorder_of_eye 30 compact_adjacent_exon_block_opportunity local_compact_architecture CABP4 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy 30 compact_adjacent_exon_block_opportunity local_compact_architecture CABP4 mondo_mondo_0000455_medgen_c0730290_orphanet_1871 Cone dystrophy MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 1.0000 condition_record_support_limited 20 0 1 Cone_dystrophy 30 compact_adjacent_exon_block_opportunity local_compact_architecture CABP4 human_phenotype_ontology_hp_0011516_mondo_mondo_0018852_medgen_c0152200_orphanet_49382 Achromatopsia Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382 1 1 1.0000 condition_record_support_limited 20 0 1 Achromatopsia 30 compact_adjacent_exon_block_opportunity local_compact_architecture CABP2 monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 0 Monogenic_hearing_loss 11 low_record_burden_interpretation_limited low_record_burden_gene CA5A condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene CA5A ca5a_related_disorder CA5A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 CA5A-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene CA2 human_phenotype_ontology_hp_0011002_mondo_mondo_0017198_medgen_c0029454_orphanet_2781 Osteopetrosis Human_Phenotype_Ontology:HP:0011002,MONDO:MONDO:0017198,MedGen:C0029454,Orphanet:2781 1 1 1.0000 condition_record_support_limited 20 0 1 Osteopetrosis 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture CA1 medgen_c4015931 Carbonic anhydrase I, Guam MedGen:C4015931 1 1 1.0000 condition_record_support_limited 20 0 0 Carbonic_anhydrase_I,_Guam 2 low_record_burden_interpretation_limited low_record_burden_gene CA1 medgen_c4015932 Carbonic anhydrase I deficiency MedGen:C4015932 1 1 1.0000 condition_record_support_limited 20 0 0 Carbonic_anhydrase_I_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene C6ORF89 mondo_mondo_0030258_medgen_c5543322_omim_619301_orphanet_613274 Pontocerebellar hypoplasia, type 14 MONDO:MONDO:0030258,MedGen:C5543322,OMIM:619301,Orphanet:613274 1 1 1.0000 condition_record_support_limited 20 0 0 Pontocerebellar_hypoplasia,_type_14 1 low_record_burden_interpretation_limited low_record_burden_gene C6ORF47 mondo_mondo_0030673_medgen_c5676910_omim_619735_orphanet_631085 Spastic paraplegia 86, autosomal recessive MONDO:MONDO:0030673,MedGen:C5676910,OMIM:619735,Orphanet:631085 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_paraplegia_86,_autosomal_recessive 1 low_record_burden_interpretation_limited low_record_burden_gene C6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C6 mondo_mondo_0015700_medgen_c0398765_orphanet_169150 Immunodeficiency due to a late component of complement deficiency MONDO:MONDO:0015700,MedGen:C0398765,Orphanet:169150 1 1 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency_due_to_a_late_component_of_complement_deficiency 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C5 mondo_mondo_0011816_medgen_c1846421_omim_607330_orphanet_46059 Lathosterolosis MONDO:MONDO:0011816,MedGen:C1846421,OMIM:607330,Orphanet:46059 1 1 1.0000 condition_record_support_limited 20 0 1 Lathosterolosis 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C5 c5_related_disorder C5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 C5-related_disorder 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C4B condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene C4B mondo_mondo_0013720_medgen_c5779962_omim_614379 Complement component 4b deficiency MONDO:MONDO:0013720,MedGen:C5779962,OMIM:614379 1 1 1.0000 condition_record_support_limited 20 0 0 Complement_component_4b_deficiency 2 low_record_burden_interpretation_limited low_record_burden_gene C3AR1 mondo_mondo_0009335_medgen_c2749604_omim_235400_orphanet_2134_orphanet_90038 Hemolytic uremic syndrome, atypical, susceptibility to, 1 MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038 1 1 1.0000 condition_record_support_limited 20 0 0 Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1 1 low_record_burden_interpretation_limited low_record_burden_gene C3 c3_related_disorder C3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 C3-related_disorder 76 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C2ORF69 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene C2CD3 human_phenotype_ontology_hp_0004986_human_phenotype_ontology_hp_0006381_medgen_c1844706 Rudimentary fibula Human_Phenotype_Ontology:HP:0004986,Human_Phenotype_Ontology:HP:0006381,MedGen:C1844706 1 1 1.0000 condition_record_support_limited 20 0 1 Rudimentary_fibula 82 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture C2CD3 human_phenotype_ontology_hp_0004985_human_phenotype_ontology_hp_0006403_human_phenotype_ontology_hp_0006466_medgen_c1837407 Ankle flexion contracture Human_Phenotype_Ontology:HP:0004985,Human_Phenotype_Ontology:HP:0006403,Human_Phenotype_Ontology:HP:0006466,MedGen:C1837407 1 1 1.0000 condition_record_support_limited 20 0 1 Ankle_flexion_contracture 82 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture C2 c2_related_disorder C2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 C2-related_disorder 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C2 medgen_c4017352 C2 deficiency, type II MedGen:C4017352 1 1 1.0000 condition_record_support_limited 20 0 0 C2_deficiency,_type_II 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C2 medgen_c4017351 C2 deficiency, type I MedGen:C4017351 1 1 1.0000 condition_record_support_limited 20 0 1 C2_deficiency,_type_I 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C2 mondo_mondo_0014207_medgen_c3809653_omim_615489 Age related macular degeneration 14 MONDO:MONDO:0014207,MedGen:C3809653,OMIM:615489 1 1 1.0000 condition_record_support_limited 20 0 1 Age_related_macular_degeneration_14 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C1S c1s_related_disorder C1S-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 C1S-related_disorder 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C1RL mondo_mondo_0014954_medgen_c4310681_omim_617174 Ehlers-Danlos syndrome, periodontal type 2 MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174 1 1 1.0000 condition_record_support_limited 20 0 1 Ehlers-Danlos_syndrome,_periodontal_type_2 1 low_record_burden_interpretation_limited low_record_burden_gene C1RL mondo_mondo_0020684_medgen_c4551499_omim_130080_orphanet_75392 Ehlers-Danlos syndrome, periodontal type 1 MONDO:MONDO:0020684,MedGen:C4551499,OMIM:130080,Orphanet:75392 1 1 1.0000 condition_record_support_limited 20 0 1 Ehlers-Danlos_syndrome,_periodontal_type_1 1 low_record_burden_interpretation_limited low_record_burden_gene C1R condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C1R mondo_mondo_0020066_medgen_c0013720_omim_ps130000_orphanet_98249 Ehlers-Danlos syndrome MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249 1 1 1.0000 condition_record_support_limited 20 0 0 Ehlers-Danlos_syndrome 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C1QTNF5 mondo_mondo_0005514_medgen_c4274282_omim_ps600165_orphanet_35612 Nanophthalmia MONDO:MONDO:0005514,MedGen:C4274282,OMIM:PS600165,Orphanet:35612 1 1 1.0000 condition_record_support_limited 20 0 1 Nanophthalmia 70 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture C1QTNF5 mfrp_related_disorder MFRP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 MFRP-related_disorder 70 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture C1QBP mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_disease 12 low_record_burden_interpretation_limited low_record_burden_gene C1QB mondo_mondo_0958182_medgen_cn376805_omim_613652 C1Q deficiency 1 MONDO:MONDO:0958182,MedGen:CN376805,OMIM:613652 1 1 1.0000 condition_record_support_limited 20 0 0 C1Q_deficiency_1 7 low_record_burden_interpretation_limited low_record_burden_gene C1QB mondo_mondo_0013343_medgen_c3150902_omim_ps613652 C1Q deficiency MONDO:MONDO:0013343,MedGen:C3150902,OMIM:PS613652 1 1 1.0000 condition_record_support_limited 20 0 1 C1Q_deficiency 7 low_record_burden_interpretation_limited low_record_burden_gene C1QA mondo_mondo_0958182_medgen_cn376805_omim_613652 C1Q deficiency 1 MONDO:MONDO:0958182,MedGen:CN376805,OMIM:613652 1 1 1.0000 condition_record_support_limited 20 0 1 C1Q_deficiency_1 12 low_record_burden_interpretation_limited low_record_burden_gene C1ORF146 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility 1 low_record_burden_interpretation_limited low_record_burden_gene C1ORF122 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene C1ORF122 mondo_mondo_0030476_medgen_c5562020_omim_619609 Galloway-Mowat syndrome 10 MONDO:MONDO:0030476,MedGen:C5562020,OMIM:619609 1 1 1.0000 condition_record_support_limited 20 0 0 Galloway-Mowat_syndrome_10 2 low_record_burden_interpretation_limited low_record_burden_gene C1ORF105 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 7 low_record_burden_interpretation_limited low_record_burden_gene C1GALT1C1 mondo_mondo_0016244_medgen_c2931788_orphanet_2134 Atypical hemolytic-uremic syndrome MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134 1 1 1.0000 condition_record_support_limited 20 0 1 Atypical_hemolytic-uremic_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene C1GALT1C1 human_phenotype_ontology_hp_0012358_medgen_c4022933 Abnormal protein O-linked glycosylation Human_Phenotype_Ontology:HP:0012358,MedGen:C4022933 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_protein_O-linked_glycosylation 8 low_record_burden_interpretation_limited low_record_burden_gene C19ORF12 human_phenotype_ontology_hp_0001295_human_phenotype_ontology_hp_0001309_human_phenotype_ontology_hp_0001337_medgen_c0040822 Tremor Human_Phenotype_Ontology:HP:0001295,Human_Phenotype_Ontology:HP:0001309,Human_Phenotype_Ontology:HP:0001337,MedGen:C0040822 1 1 1.0000 condition_record_support_limited 20 0 1 Tremor 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C19ORF12 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C19ORF12 human_phenotype_ontology_hp_0007994_medgen_c0241688 Peripheral visual field loss Human_Phenotype_Ontology:HP:0007994,MedGen:C0241688 1 1 1.0000 condition_record_support_limited 20 0 1 Peripheral_visual_field_loss 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C19ORF12 mondo_mondo_0018975_medgen_c0027831_omim_162200_orphanet_636 Neurofibromatosis, type 1 MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200,Orphanet:636 1 1 1.0000 condition_record_support_limited 20 0 1 Neurofibromatosis,_type_1 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C19ORF12 human_phenotype_ontology_hp_0001268_human_phenotype_ontology_hp_0002303_human_phenotype_ontology_hp_0006822_human_phenotype_ontology_hp_0007155_human_phenotype_ontology_hp_0007253_human_phenotype_ontology_hp_0007264_human_phenotype_ontology_hp_0007298_medgen_c0234985 Mental deterioration Human_Phenotype_Ontology:HP:0001268,Human_Phenotype_Ontology:HP:0002303,Human_Phenotype_Ontology:HP:0006822,Human_Phenotype_Ontology:HP:0007155,Human_Phenotype_Ontology:HP:0007253,Human_Phenotype_Ontology:HP:0007264,Human_Phenotype_Ontology:HP:0007298,MedGen:C0234985 1 1 1.0000 condition_record_support_limited 20 0 1 Mental_deterioration 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C19ORF12 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C19ORF12 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C19ORF12 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C19ORF12 human_phenotype_ontology_hp_0001332_human_phenotype_ontology_hp_0002328_mondo_mondo_0003441_medgen_c0013421 Dystonic disorder Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421 1 1 1.0000 condition_record_support_limited 20 0 1 Dystonic_disorder 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C19ORF12 human_phenotype_ontology_hp_0007830_medgen_c4024790 Adult-onset night blindness Human_Phenotype_Ontology:HP:0007830,MedGen:C4024790 1 1 1.0000 condition_record_support_limited 20 0 1 Adult-onset_night_blindness 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C19ORF12 human_phenotype_ontology_hp_0011031_medgen_c4023583 Abnormality of iron homeostasis Human_Phenotype_Ontology:HP:0011031,MedGen:C4023583 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_iron_homeostasis 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C19ORF12 human_phenotype_ontology_hp_0011442_medgen_c4023354 Abnormal central motor function Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_central_motor_function 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C17ORF107 medgen_c0751885_orphanet_590 Slow-Channel Congenital Myasthenia Syndrome MedGen:C0751885,Orphanet:590 1 1 1.0000 condition_record_support_limited 20 0 1 Slow-Channel_Congenital_Myasthenia_Syndrome 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C17ORF107 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C17ORF107 human_phenotype_ontology_hp_0031165_medgen_c3281034 Multifocal seizures Human_Phenotype_Ontology:HP:0031165,MedGen:C3281034 1 1 1.0000 condition_record_support_limited 20 0 1 Multifocal_seizures 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C17ORF107 mondo_mondo_0013367_medgen_c3150943_omim_613688_orphanet_101016_orphanet_768 Long QT syndrome 2 MONDO:MONDO:0013367,MedGen:C3150943,OMIM:613688,Orphanet:101016,Orphanet:768 1 1 1.0000 condition_record_support_limited 20 0 1 Long_QT_syndrome_2 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C17ORF107 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C17ORF107 mondo_mondo_0011088_medgen_c2931107_omim_601462 Congenital myasthenic syndrome 1A MONDO:MONDO:0011088,MedGen:C2931107,OMIM:601462 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_myasthenic_syndrome_1A 156 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C14ORF39 human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 1.0000 condition_record_support_limited 20 0 1 Nystagmus 17 low_record_burden_interpretation_limited low_record_burden_gene C14ORF39 human_phenotype_ontology_hp_0000568_human_phenotype_ontology_hp_0007996_mondo_mondo_0021129_medgen_c0026010 Microphthalmia Human_Phenotype_Ontology:HP:0000568,Human_Phenotype_Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010 1 1 1.0000 condition_record_support_limited 20 0 1 Microphthalmia 17 low_record_burden_interpretation_limited low_record_burden_gene C14ORF39 human_phenotype_ontology_hp_0000482_human_phenotype_ontology_hp_0100688_medgen_c0266544 Microcornea Human_Phenotype_Ontology:HP:0000482,Human_Phenotype_Ontology:HP:0100688,MedGen:C0266544 1 1 1.0000 condition_record_support_limited 20 0 1 Microcornea 17 low_record_burden_interpretation_limited low_record_burden_gene C14ORF39 human_phenotype_ontology_hp_0007720_mondo_mondo_0000733_medgen_c0344529_omim_ps121400_orphanet_53691 Cornea plana Human_Phenotype_Ontology:HP:0007720,MONDO:MONDO:0000733,MedGen:C0344529,OMIM:PS121400,Orphanet:53691 1 1 1.0000 condition_record_support_limited 20 0 1 Cornea_plana 17 low_record_burden_interpretation_limited low_record_burden_gene C14ORF39 human_phenotype_ontology_hp_0000027_mondo_mondo_0100459_mesh_d053713_medgen_c0004509 Azoospermia Human_Phenotype_Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509 1 1 1.0000 condition_record_support_limited 20 0 1 Azoospermia 17 low_record_burden_interpretation_limited low_record_burden_gene C12ORF60 wbp11_spliceosomopathy WBP11 spliceosomopathy . 1 1 1.0000 condition_record_support_limited 20 0 0 WBP11_spliceosomopathy 3 low_record_burden_interpretation_limited low_record_burden_gene C12ORF57 human_phenotype_ontology_hp_0000076_human_phenotype_ontology_hp_0005998_human_phenotype_ontology_hp_0006002_human_phenotype_ontology_hp_0008667_mondo_mondo_0006007_medgen_c0042580 Vesicoureteral reflux Human_Phenotype_Ontology:HP:0000076,Human_Phenotype_Ontology:HP:0005998,Human_Phenotype_Ontology:HP:0006002,Human_Phenotype_Ontology:HP:0008667,MONDO:MONDO:0006007,MedGen:C0042580 1 1 1.0000 condition_record_support_limited 20 0 1 Vesicoureteral_reflux 27 compact_adjacent_exon_block_opportunity local_compact_architecture C12ORF57 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 27 compact_adjacent_exon_block_opportunity local_compact_architecture C12ORF57 human_phenotype_ontology_hp_0012585_medgen_c0341698 Renal atrophy Human_Phenotype_Ontology:HP:0012585,MedGen:C0341698 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_atrophy 27 compact_adjacent_exon_block_opportunity local_compact_architecture C12ORF57 mondo_mondo_0000170_medgen_c2931500_omim_ps300345_orphanet_98938 Microphthalmia, isolated, with coloboma MONDO:MONDO:0000170,MedGen:C2931500,OMIM:PS300345,Orphanet:98938 1 1 1.0000 condition_record_support_limited 20 0 1 Microphthalmia,_isolated,_with_coloboma 27 compact_adjacent_exon_block_opportunity local_compact_architecture C12ORF57 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 27 compact_adjacent_exon_block_opportunity local_compact_architecture C12ORF57 human_phenotype_ontology_hp_0000126_mondo_mondo_0005510_medgen_c0020295 Hydronephrosis Human_Phenotype_Ontology:HP:0000126,MONDO:MONDO:0005510,MedGen:C0020295 1 1 1.0000 condition_record_support_limited 20 0 1 Hydronephrosis 27 compact_adjacent_exon_block_opportunity local_compact_architecture C12ORF57 human_phenotype_ontology_hp_0001576_human_phenotype_ontology_hp_0001577_human_phenotype_ontology_hp_0006973_human_phenotype_ontology_hp_0007018_mondo_mondo_0007743_medgen_c1263846 Attention deficit hyperactivity disorder Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846 1 1 1.0000 condition_record_support_limited 20 0 1 Attention_deficit_hyperactivity_disorder 27 compact_adjacent_exon_block_opportunity local_compact_architecture C12ORF57 human_phenotype_ontology_hp_0001273_human_phenotype_ontology_hp_0007323_medgen_c1842581 Abnormal corpus callosum morphology Human_Phenotype_Ontology:HP:0001273,Human_Phenotype_Ontology:HP:0007323,MedGen:C1842581 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_corpus_callosum_morphology 27 compact_adjacent_exon_block_opportunity local_compact_architecture C12ORF43 mondo_mondo_0859278_medgen_c5774200_omim_620009 Keratoderma-ichthyosis-deafness syndrome, autosomal recessive MONDO:MONDO:0859278,MedGen:C5774200,OMIM:620009 1 1 1.0000 condition_record_support_limited 20 0 1 Keratoderma-ichthyosis-deafness_syndrome,_autosomal_recessive 10 low_record_burden_interpretation_limited low_record_burden_gene C11ORF65 mondo_mondo_0006003_medgen_cn277893 Uterine corpus cancer MONDO:MONDO:0006003,MedGen:CN277893 1 1 1.0000 condition_record_support_limited 20 0 1 Uterine_corpus_cancer 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 human_phenotype_ontology_hp_0011797_medgen_c1336839_omim_605074_orphanet_47044 Papillary renal cell carcinoma type 1 Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044 1 1 1.0000 condition_record_support_limited 20 0 1 Papillary_renal_cell_carcinoma_type_1 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 nice_approved_parp_inhibitor_treatment NICE approved PARP inhibitor treatment . 1 1 1.0000 condition_record_support_limited 20 0 1 NICE_approved_PARP_inhibitor_treatment 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 mondo_mondo_0018876_medgen_c4721414_orphanet_52416 Mantle cell lymphoma MONDO:MONDO:0018876,MedGen:C4721414,Orphanet:52416 1 1 1.0000 condition_record_support_limited 20 0 0 Mantle_cell_lymphoma 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 mondo_mondo_0100342_medgen_c0555198 Malignant glioma MONDO:MONDO:0100342,MedGen:C0555198 1 1 1.0000 condition_record_support_limited 20 0 1 Malignant_glioma 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 mondo_mondo_0012496_medgen_c1864871_omim_610443_orphanet_96169 Koolen-de Vries syndrome MONDO:MONDO:0012496,MedGen:C1864871,OMIM:610443,Orphanet:96169 1 1 1.0000 condition_record_support_limited 20 0 1 Koolen-de_Vries_syndrome 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 medgen_c1333600 Hereditary cancer MedGen:C1333600 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 mondo_mondo_0018177_mesh_d005909_medgen_c0017636_orphanet_360 Glioblastoma MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360 1 1 1.0000 condition_record_support_limited 20 0 1 Glioblastoma 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 mondo_mondo_0016248_medgen_c5679802 Familial ovarian cancer MONDO:MONDO:0016248,MedGen:C5679802 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_ovarian_cancer 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 human_phenotype_ontology_hp_0100273_mondo_mondo_0005401_mesh_d003110_medgen_c0009375 Colonic neoplasm Human_Phenotype_Ontology:HP:0100273,MONDO:MONDO:0005401,MeSH:D003110,MedGen:C0009375 1 1 1.0000 condition_record_support_limited 20 0 1 Colonic_neoplasm 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 human_phenotype_ontology_hp_0006770_mondo_mondo_0005005_medgen_c0279702_orphanet_319276 Clear cell carcinoma of kidney Human_Phenotype_Ontology:HP:0006770,MONDO:MONDO:0005005,MedGen:C0279702,Orphanet:319276 1 1 1.0000 condition_record_support_limited 20 0 1 Clear_cell_carcinoma_of_kidney 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 mondo_mondo_0000437_medgen_c0007758_orphanet_102002 Cerebellar ataxia MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_ataxia 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 mondo_mondo_0011450_medgen_c2676676_omim_604370_orphanet_145 Breast-ovarian cancer, familial, susceptibility to, 1 MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 1 Breast-ovarian_cancer,_familial,_susceptibility_to,_1 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 ataxia_telangiectasi Ataxia telangiectasi . 1 1 1.0000 condition_record_support_limited 20 0 1 Ataxia_telangiectasi 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C11ORF65 mondo_mondo_0004970_medgen_c0001418 Adenocarcinoma MONDO:MONDO:0004970,MedGen:C0001418 1 1 1.0000 condition_record_support_limited 20 0 1 Adenocarcinoma 1469 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture C10ORF71 efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 0 Primary_dilated_cardiomyopathy 4 low_record_burden_interpretation_limited low_record_burden_gene C10ORF67 mondo_mondo_0014406_medgen_c4014737_omim_615935_orphanet_2805 Pancreatic agenesis 2 MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805 1 1 1.0000 condition_record_support_limited 20 0 0 Pancreatic_agenesis_2 1 low_record_burden_interpretation_limited low_record_burden_gene C10ORF105 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 65 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture C10ORF105 human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 1.0000 condition_record_support_limited 20 0 0 Ear_malformation 65 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture BUD13 mondo_mondo_0700300_medgen_c6012702_omim_621123 Achalasia-progeroid syndrome MONDO:MONDO:0700300,MedGen:C6012702,OMIM:621123 1 1 1.0000 condition_record_support_limited 20 0 0 Achalasia-progeroid_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene BUB1B mondo_mondo_0000141_medgen_c4551972_omim_ps257300_orphanet_1052 Mosaic variegated aneuploidy syndrome MONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300,Orphanet:1052 1 1 1.0000 condition_record_support_limited 20 0 0 Mosaic_variegated_aneuploidy_syndrome 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BUB1 mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 1 1 1.0000 condition_record_support_limited 20 0 0 Carcinoma_of_colon 6 low_record_burden_interpretation_limited low_record_burden_gene BTK mondo_mondo_0015517_medgen_c0009447_omim_ps607594_orphanet_1572 Common variable immunodeficiency MONDO:MONDO:0015517,MedGen:C0009447,OMIM:PS607594,Orphanet:1572 1 1 1.0000 condition_record_support_limited 20 0 1 Common_variable_immunodeficiency 348 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BTK agammaglobulinaemia_with_absent_btk_expression Agammaglobulinaemia with absent BTK expression . 1 1 1.0000 condition_record_support_limited 20 0 0 Agammaglobulinaemia_with_absent_BTK_expression 348 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BTD possible_mitochondrial_disorder_nuclear_genes Possible mitochondrial disorder - nuclear genes . 1 1 1.0000 condition_record_support_limited 20 0 1 Possible_mitochondrial_disorder_-_nuclear_genes 251 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BTD human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 251 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BTD human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 251 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BTD human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 251 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BTD human_phenotype_ontology_hp_0000028_human_phenotype_ontology_hp_0000797_mondo_mondo_0009047_medgen_c0010417_omim_219050 Cryptorchidism Human_Phenotype_Ontology:HP:0000028,Human_Phenotype_Ontology:HP:0000797,MONDO:MONDO:0009047,MedGen:C0010417,OMIM:219050 1 1 1.0000 condition_record_support_limited 20 0 1 Cryptorchidism 251 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BSND human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 39 compact_adjacent_exon_block_opportunity local_compact_architecture BSND mondo_mondo_0019524_medgen_c3838860_orphanet_89938 Bartter syndrome type 4 MONDO:MONDO:0019524,MedGen:C3838860,Orphanet:89938 1 1 1.0000 condition_record_support_limited 20 0 1 Bartter_syndrome_type_4 39 compact_adjacent_exon_block_opportunity local_compact_architecture BSND bsnd_related_disorder BSND-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 BSND-related_disorder 39 compact_adjacent_exon_block_opportunity local_compact_architecture BSN mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 0 Epilepsy 4 low_record_burden_interpretation_limited low_record_burden_gene BSN bsn_associated_neurodevelopmental_disorder BSN-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 BSN-associated_neurodevelopmental_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene BSN bsn_associated_epilepsy BSN-associated epilepsy . 1 1 1.0000 condition_record_support_limited 20 0 0 BSN-associated_epilepsy 4 low_record_burden_interpretation_limited low_record_burden_gene BSCL2 human_phenotype_ontology_hp_0009314_medgen_c4024448 Symphalangism affecting the proximal phalanx of the 4th finger Human_Phenotype_Ontology:HP:0009314,MedGen:C4024448 1 1 1.0000 condition_record_support_limited 20 0 1 Symphalangism_affecting_the_proximal_phalanx_of_the_4th_finger 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BSCL2 human_phenotype_ontology_hp_0002972_human_phenotype_ontology_hp_0005434_medgen_c1843386 Reduced delayed hypersensitivity Human_Phenotype_Ontology:HP:0002972,Human_Phenotype_Ontology:HP:0005434,MedGen:C1843386 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_delayed_hypersensitivity 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BSCL2 human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Peripheral neuropathy Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 1.0000 condition_record_support_limited 20 0 1 Peripheral_neuropathy 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BSCL2 mondo_mondo_0015967_medgen_c3888631_orphanet_183625 Monogenic diabetes MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_diabetes 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BSCL2 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BSCL2 mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BSCL2 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BSCL2 human_phenotype_ontology_hp_0003002_mondo_mondo_0004989_medgen_c0678222 Breast carcinoma Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222 1 1 1.0000 condition_record_support_limited 20 0 1 Breast_carcinoma 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BSCL2 human_phenotype_ontology_hp_0011442_medgen_c4023354 Abnormal central motor function Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_central_motor_function 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRWD3 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BRWD3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BRWD3 brwd3_related_syndromic_intellectual_disability BRWD3- related syndromic intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 1 BRWD3-_related_syndromic_intellectual_disability 66 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BRWD1 human_phenotype_ontology_hp_0001696_mondo_mondo_0010029_medgen_c4551493_orphanet_101063 Situs inversus Human_Phenotype_Ontology:HP:0001696,MONDO:MONDO:0010029,MedGen:C4551493,Orphanet:101063 1 1 1.0000 condition_record_support_limited 20 0 1 Situs_inversus 2 low_record_burden_interpretation_limited low_record_burden_gene BRWD1 human_phenotype_ontology_hp_0011108_medgen_c0581354 Recurrent sinusitis Human_Phenotype_Ontology:HP:0011108,MedGen:C0581354 1 1 1.0000 condition_record_support_limited 20 0 1 Recurrent_sinusitis 2 low_record_burden_interpretation_limited low_record_burden_gene BRWD1 human_phenotype_ontology_hp_0000403_human_phenotype_ontology_hp_0008622_human_phenotype_ontology_hp_0008623_human_phenotype_ontology_hp_0008624_medgen_c0747085 Recurrent otitis media Human_Phenotype_Ontology:HP:0000403,Human_Phenotype_Ontology:HP:0008622,Human_Phenotype_Ontology:HP:0008623,Human_Phenotype_Ontology:HP:0008624,MedGen:C0747085 1 1 1.0000 condition_record_support_limited 20 0 1 Recurrent_otitis_media 2 low_record_burden_interpretation_limited low_record_burden_gene BRWD1 mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 2 low_record_burden_interpretation_limited low_record_burden_gene BRWD1 human_phenotype_ontology_hp_0003251_mondo_mondo_0005372_mesh_d007248_medgen_c0021364 Male infertility Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MeSH:D007248,MedGen:C0021364 1 1 1.0000 condition_record_support_limited 20 0 1 Male_infertility 2 low_record_burden_interpretation_limited low_record_burden_gene BRWD1 mondo_mondo_0957396_medgen_c5830608_omim_620438 Ciliary dyskinesia, primary, 51 MONDO:MONDO:0957396,MedGen:C5830608,OMIM:620438 1 1 1.0000 condition_record_support_limited 20 0 1 Ciliary_dyskinesia,_primary,_51 2 low_record_burden_interpretation_limited low_record_burden_gene BRWD1 human_phenotype_ontology_hp_0002110_mondo_mondo_0004822_medgen_c0006267_omim_ps211400 Bronchiectasis Human_Phenotype_Ontology:HP:0002110,MONDO:MONDO:0004822,MedGen:C0006267,OMIM:PS211400 1 1 1.0000 condition_record_support_limited 20 0 1 Bronchiectasis 2 low_record_burden_interpretation_limited low_record_burden_gene BRSK2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRSK2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRSK2 brsk2_related_neurodevelopmental_disorder BRSK2-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 BRSK2-related_neurodevelopmental_disorder 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRSK2 brsk2_associated_neurodevelopmental_disorder BRSK2-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 BRSK2-associated_neurodevelopmental_disorder 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRSK1 brsk1_associated_neurodevelopmental_disorder BRSK1-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 BRSK1-associated_neurodevelopmental_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene BRPF1 mondo_mondo_1010117_medgen_c3827273 Sudden unexplained death in childhood MONDO:MONDO:1010117,MedGen:C3827273 1 1 1.0000 condition_record_support_limited 20 0 1 Sudden_unexplained_death_in_childhood 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRPF1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 93 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRME1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene BRME1 mondo_mondo_0030985_medgen_c5543229_omim_619245 Premature ovarian failure 19 MONDO:MONDO:0030985,MedGen:C5543229,OMIM:619245 1 1 1.0000 condition_record_support_limited 20 0 1 Premature_ovarian_failure_19 1 low_record_burden_interpretation_limited low_record_burden_gene BRME1 mondo_mondo_0012037_medgen_c1838023_omim_608443_orphanet_88616 Intellectual disability, autosomal recessive 3 MONDO:MONDO:0012037,MedGen:C1838023,OMIM:608443,Orphanet:88616 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_autosomal_recessive_3 1 low_record_burden_interpretation_limited low_record_burden_gene BRME1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene BRME1 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 1 low_record_burden_interpretation_limited low_record_burden_gene BRIP1 mondo_mondo_0006003_medgen_cn277893 Uterine corpus cancer MONDO:MONDO:0006003,MedGen:CN277893 1 1 1.0000 condition_record_support_limited 20 0 1 Uterine_corpus_cancer 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRIP1 mondo_mondo_0011931_medgen_c2675601_omim_607893 Ovarian cancer, susceptibility to, 1 MONDO:MONDO:0011931,MedGen:C2675601,OMIM:607893 1 1 1.0000 condition_record_support_limited 20 0 1 Ovarian_cancer,_susceptibility_to,_1 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRIP1 ovarian_cancers Ovarian Cancers . 1 1 1.0000 condition_record_support_limited 20 0 1 Ovarian_Cancers 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRIP1 mondo_mondo_0009214_medgen_c3160738_omim_227646_orphanet_84 Fanconi anemia complementation group D2 MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646,Orphanet:84 1 1 1.0000 condition_record_support_limited 20 0 1 Fanconi_anemia_complementation_group_D2 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRIP1 human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Esophageal atresia/tracheoesophageal fistula Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 1.0000 condition_record_support_limited 20 0 1 Esophageal_atresia/tracheoesophageal_fistula 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRIP1 mondo_mondo_0006033_medgen_c2986658_orphanet_497188 Diffuse intrinsic pontine glioma MONDO:MONDO:0006033,MedGen:C2986658,Orphanet:497188 1 1 1.0000 condition_record_support_limited 20 0 1 Diffuse_intrinsic_pontine_glioma 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRIP1 mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 1 1 1.0000 condition_record_support_limited 20 0 1 Carcinoma_of_colon 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRIP1 human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Breast neoplasm Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 1 1 1.0000 condition_record_support_limited 20 0 1 Breast_neoplasm 875 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRF1 mondo_mondo_0005575_medgen_c0346629_omim_114500 Colorectal cancer MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 1 1 1.0000 condition_record_support_limited 20 0 0 Colorectal_cancer 12 low_record_burden_interpretation_limited low_record_burden_gene BRDT mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 1 low_record_burden_interpretation_limited low_record_burden_gene BRD7 mondo_mondo_0003252_medgen_c0334618 Granular cell cancer MONDO:MONDO:0003252,MedGen:C0334618 1 1 1.0000 condition_record_support_limited 20 0 0 Granular_cell_cancer 1 low_record_burden_interpretation_limited low_record_burden_gene BRD4 mondo_mondo_0005084_mesh_d001523_medgen_c0004936 Mental disorder MONDO:MONDO:0005084,MeSH:D001523,MedGen:C0004936 1 1 1.0000 condition_record_support_limited 20 0 0 Mental_disorder 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRD4 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRD4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRD4 mondo_mondo_0016033_medgen_c0270972_omim_ps122470_orphanet_199 De Lange syndrome MONDO:MONDO:0016033,MedGen:C0270972,OMIM:PS122470,Orphanet:199 1 1 1.0000 condition_record_support_limited 20 0 0 De_Lange_syndrome 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRD4 cornelia_de_lange_like_syndrome Cornelia de Lange-like syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 Cornelia_de_Lange-like_syndrome 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRCA2 bilateral_breast_cancer bilateral breast cancer MedGen:CN235586 1 1 1.0000 condition_record_support_limited 20 0 1 bilateral_breast_cancer 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 human_phenotype_ontology_hp_0006034_human_phenotype_ontology_hp_0006046_human_phenotype_ontology_hp_0006123_human_phenotype_ontology_hp_0009605_human_phenotype_ontology_hp_0010442_mondo_mondo_0021003_medgen_c0152427_omim_603596 Polydactyly Human_Phenotype_Ontology:HP:0006034,Human_Phenotype_Ontology:HP:0006046,Human_Phenotype_Ontology:HP:0006123,Human_Phenotype_Ontology:HP:0009605,Human_Phenotype_Ontology:HP:0010442,MONDO:MONDO:0021003,MedGen:C0152427,OMIM:603596 1 1 1.0000 condition_record_support_limited 20 0 1 Polydactyly 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_0003874_medgen_c1335178 Ovarian serous surface papillary adenocarcinoma MONDO:MONDO:0003874,MedGen:C1335178 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_serous_surface_papillary_adenocarcinoma 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_0019954_medgen_c1337011_orphanet_97253 Neuroendocrine tumor of pancreas MONDO:MONDO:0019954,MedGen:C1337011,Orphanet:97253 1 1 1.0000 condition_record_support_limited 20 0 1 Neuroendocrine_tumor_of_pancreas 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_myeloma 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 monogenic_short_statue Monogenic short statue . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_short_statue 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 medgen_c4763838 Metastatic Prostate Small Cell Carcinoma MedGen:C4763838 1 1 1.0000 condition_record_support_limited 20 0 1 Metastatic_Prostate_Small_Cell_Carcinoma 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_0007963_medgen_c1835047_omim_155600_orphanet_618 Melanoma, cutaneous malignant, susceptibility to, 1 MONDO:MONDO:0007963,MedGen:C1835047,OMIM:155600,Orphanet:618 1 1 1.0000 condition_record_support_limited 20 0 1 Melanoma,_cutaneous_malignant,_susceptibility_to,_1 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 Malignant lymphoma, large B-cell, diffuse MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 1 1 1.0000 condition_record_support_limited 20 0 1 Malignant_lymphoma,_large_B-cell,_diffuse 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_0021637_medgen_c1997217 Low grade glioma MONDO:MONDO:0021637,MedGen:C1997217 1 1 1.0000 condition_record_support_limited 20 0 1 Low_grade_glioma 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_0007843_medgen_cn030661_omim_147920_orphanet_2322 Kabuki syndrome 1 MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322 1 1 1.0000 condition_record_support_limited 20 0 1 Kabuki_syndrome_1 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 human_phenotype_ontology_hp_0002358_human_phenotype_ontology_hp_0007359_medgen_c0751495 Focal-onset seizure Human_Phenotype_Ontology:HP:0002358,Human_Phenotype_Ontology:HP:0007359,MedGen:C0751495 1 1 1.0000 condition_record_support_limited 20 0 1 Focal-onset_seizure 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 flg_related_disorder FLG-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 FLG-related_disorder 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_1060171_medgen_c5669877 Diffuse midline glioma, H3 K27-altered MONDO:MONDO:1060171,MedGen:C5669877 1 1 1.0000 condition_record_support_limited 20 0 1 Diffuse_midline_glioma,_H3_K27-altered 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_0006033_medgen_c2986658_orphanet_497188 Diffuse intrinsic pontine glioma MONDO:MONDO:0006033,MedGen:C2986658,Orphanet:497188 1 1 1.0000 condition_record_support_limited 20 0 1 Diffuse_intrinsic_pontine_glioma 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_palsy 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 1 1 1.0000 condition_record_support_limited 20 0 1 Carcinoma_of_colon 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_0045024_medgen_cn377727 Cancer or benign tumor MONDO:MONDO:0045024,MedGen:CN377727 1 1 1.0000 condition_record_support_limited 20 0 1 Cancer_or_benign_tumor 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_0013692_medgen_c3280492_omim_614327_orphanet_289539 BAP1-related tumor predisposition syndrome MONDO:MONDO:0013692,MedGen:C3280492,OMIM:614327,Orphanet:289539 1 1 1.0000 condition_record_support_limited 20 0 1 BAP1-related_tumor_predisposition_syndrome 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA2 mondo_mondo_0009876_medgen_c0342573_omim_262400_orphanet_231662_orphanet_631 Ateleiotic dwarfism MONDO:MONDO:0009876,MedGen:C0342573,OMIM:262400,Orphanet:231662,Orphanet:631 1 1 1.0000 condition_record_support_limited 20 0 1 Ateleiotic_dwarfism 5554 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 bilateral_breast_cancer bilateral breast cancer MedGen:CN235586 1 1 1.0000 condition_record_support_limited 20 0 1 bilateral_breast_cancer 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 mondo_mondo_0006003_medgen_cn277893 Uterine corpus cancer MONDO:MONDO:0006003,MedGen:CN277893 1 1 1.0000 condition_record_support_limited 20 0 1 Uterine_corpus_cancer 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 mondo_mondo_0008292_medgen_c1867982_omim_175860_orphanet_79502 Punctate palmoplantar keratoderma type 2 MONDO:MONDO:0008292,MedGen:C1867982,OMIM:175860,Orphanet:79502 1 1 1.0000 condition_record_support_limited 20 0 1 Punctate_palmoplantar_keratoderma_type_2 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 mondo_mondo_0042486_medgen_c1832587_omim_601228_orphanet_157794 Polyposis syndrome, hereditary mixed, 1 MONDO:MONDO:0042486,MedGen:C1832587,OMIM:601228,Orphanet:157794 1 1 1.0000 condition_record_support_limited 20 0 0 Polyposis_syndrome,_hereditary_mixed,_1 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 human_phenotype_ontology_hp_0032388_mondo_mondo_0020341_mesh_d054091_medgen_c1868720_omim_ps300049_orphanet_98892 Periventricular nodular heterotopia Human_Phenotype_Ontology:HP:0032388,MONDO:MONDO:0020341,MeSH:D054091,MedGen:C1868720,OMIM:PS300049,Orphanet:98892 1 1 1.0000 condition_record_support_limited 20 0 1 Periventricular_nodular_heterotopia 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 mondo_mondo_0002087_medgen_c0153467 Peritoneum cancer MONDO:MONDO:0002087,MedGen:C0153467 1 1 1.0000 condition_record_support_limited 20 0 1 Peritoneum_cancer 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 medgen_c3469525 Pancreatic cancer, susceptibility to MedGen:C3469525 1 1 1.0000 condition_record_support_limited 20 0 1 Pancreatic_cancer,_susceptibility_to 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 mondo_mondo_0003874_medgen_c1335178 Ovarian serous surface papillary adenocarcinoma MONDO:MONDO:0003874,MedGen:C1335178 1 1 1.0000 condition_record_support_limited 20 0 1 Ovarian_serous_surface_papillary_adenocarcinoma 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 mondo_mondo_0007356_medgen_c2936783_omim_120435_orphanet_144 Lynch syndrome 1 MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144 1 1 1.0000 condition_record_support_limited 20 0 1 Lynch_syndrome_1 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 mondo_mondo_0008903_medgen_c0242379_omim_211980 Lung cancer MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980 1 1 1.0000 condition_record_support_limited 20 0 1 Lung_cancer 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 invasive_medullary_breast_carcinoma Invasive medullary breast carcinoma . 1 1 1.0000 condition_record_support_limited 20 0 1 Invasive_medullary_breast_carcinoma 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 mondo_mondo_0858940_medgen_c5669919_orphanet_695136 Infant-type hemispheric glioma MONDO:MONDO:0858940,MedGen:C5669919,Orphanet:695136 1 1 1.0000 condition_record_support_limited 20 0 1 Infant-type_hemispheric_glioma 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 Familial prostate cancer MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_prostate_cancer 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 familial_breast_and_ovarian_cancer Familial breast and ovarian cancer . 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_breast_and_ovarian_cancer 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 human_phenotype_ontology_hp_0100621_mondo_mondo_0003002_medgen_c0013377 Dysgerminoma Human_Phenotype_Ontology:HP:0100621,MONDO:MONDO:0003002,MedGen:C0013377 1 1 1.0000 condition_record_support_limited 20 0 1 Dysgerminoma 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 1 1 1.0000 condition_record_support_limited 20 0 1 Carcinoma_of_colon 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 medgen_c3469522 Breast cancer, susceptibility to MedGen:C3469522 1 1 1.0000 condition_record_support_limited 20 0 0 Breast_cancer,_susceptibility_to 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 breast_and_colorectal_cancer Breast and colorectal cancer MedGen:CN221560 1 1 1.0000 condition_record_support_limited 20 0 1 Breast_and_colorectal_cancer 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRCA1 human_phenotype_ontology_hp_0000137_mondo_mondo_0005558_medgen_c4021818 Abnormality of the ovary Human_Phenotype_Ontology:HP:0000137,MONDO:MONDO:0005558,MedGen:C4021818 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_ovary 4060 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BRAT1 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 0 Seizure 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAT1 brat1_related_neurodevelopmental_disorder BRAT1-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 BRAT1-related_neurodevelopmental_disorder 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAT1 brat1_associated_neurodegenerative_disorder BRAT1-associated neurodegenerative disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 BRAT1-associated_neurodegenerative_disorder 113 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF human_phenotype_ontology_hp_0000779_human_phenotype_ontology_hp_0001554_human_phenotype_ontology_hp_0006610_medgen_c1827524 Wide intermamillary distance Human_Phenotype_Ontology:HP:0000779,Human_Phenotype_Ontology:HP:0001554,Human_Phenotype_Ontology:HP:0006610,MedGen:C1827524 1 1 1.0000 condition_record_support_limited 20 0 1 Wide_intermamillary_distance 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF human_phenotype_ontology_hp_0000465_medgen_c0221217 Webbed neck Human_Phenotype_Ontology:HP:0000465,MedGen:C0221217 1 1 1.0000 condition_record_support_limited 20 0 1 Webbed_neck 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF human_phenotype_ontology_hp_0001629_human_phenotype_ontology_hp_0001652_mondo_mondo_0002070_medgen_c0018818_omim_ps614429 Ventricular septal defect Human_Phenotype_Ontology:HP:0001629,Human_Phenotype_Ontology:HP:0001652,MONDO:MONDO:0002070,MedGen:C0018818,OMIM:PS614429 1 1 1.0000 condition_record_support_limited 20 0 1 Ventricular_septal_defect 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF human_phenotype_ontology_hp_0001714_human_phenotype_ontology_hp_0005167_medgen_c0340279 Ventricular hypertrophy Human_Phenotype_Ontology:HP:0001714,Human_Phenotype_Ontology:HP:0005167,MedGen:C0340279 1 1 1.0000 condition_record_support_limited 20 0 1 Ventricular_hypertrophy 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF mondo_mondo_0008566_medgen_c4225426_omim_188470 Thyroid cancer, nonmedullary, 2 MONDO:MONDO:0008566,MedGen:C4225426,OMIM:188470 1 1 1.0000 condition_record_support_limited 20 0 1 Thyroid_cancer,_nonmedullary,_2 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF human_phenotype_ontology_hp_0002144_mondo_mondo_0006995_medgen_c0080218 Tethered cord Human_Phenotype_Ontology:HP:0002144,MONDO:MONDO:0006995,MedGen:C0080218 1 1 1.0000 condition_record_support_limited 20 0 1 Tethered_cord 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF human_phenotype_ontology_hp_0001642_mondo_mondo_0009938_medgen_c1956257_omim_265500_orphanet_3189 Pulmonic stenosis Human_Phenotype_Ontology:HP:0001642,MONDO:MONDO:0009938,MedGen:C1956257,OMIM:265500,Orphanet:3189 1 1 1.0000 condition_record_support_limited 20 0 1 Pulmonic_stenosis 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF human_phenotype_ontology_hp_0001622_medgen_c0151526 Premature birth Human_Phenotype_Ontology:HP:0001622,MedGen:C0151526 1 1 1.0000 condition_record_support_limited 20 0 1 Premature_birth 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF mondo_mondo_0011676_medgen_c1847874_omim_606519_orphanet_42775 PHACE syndrome MONDO:MONDO:0011676,MedGen:C1847874,OMIM:606519,Orphanet:42775 1 1 1.0000 condition_record_support_limited 20 0 1 PHACE_syndrome 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF human_phenotype_ontology_hp_0100834_mondo_mondo_0005335_mesh_d015179_medgen_c0009404 Neoplasm of the large intestine Human_Phenotype_Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404 1 1 1.0000 condition_record_support_limited 20 0 1 Neoplasm_of_the_large_intestine 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF human_phenotype_ontology_hp_0002643_medgen_c4281993 Neonatal respiratory distress Human_Phenotype_Ontology:HP:0002643,MedGen:C4281993 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_respiratory_distress 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF mondo_mondo_0002380_mesh_d009208_medgen_c0027070 Myoepithelial tumor MONDO:MONDO:0002380,MeSH:D009208,MedGen:C0027070 1 1 1.0000 condition_record_support_limited 20 0 1 Myoepithelial_tumor 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF mondo_mondo_0018905_mesh_d016403_medgen_c0079744_orphanet_544 Malignant lymphoma, large B-cell, diffuse MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544 1 1 1.0000 condition_record_support_limited 20 0 1 Malignant_lymphoma,_large_B-cell,_diffuse 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF mondo_mondo_0019313_medgen_c0398368_omim_ps153100 Lymphatic malformation MONDO:MONDO:0019313,MedGen:C0398368,OMIM:PS153100 1 1 1.0000 condition_record_support_limited 20 0 0 Lymphatic_malformation 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF human_phenotype_ontology_hp_0000368_medgen_c1857486 Low-set, posteriorly rotated ears Human_Phenotype_Ontology:HP:0000368,MedGen:C1857486 1 1 1.0000 condition_record_support_limited 20 0 1 Low-set,_posteriorly_rotated_ears 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF mondo_mondo_0023644_medgen_c0220641 Lip and oral cavity carcinoma MONDO:MONDO:0023644,MedGen:C0220641 1 1 1.0000 condition_record_support_limited 20 0 0 Lip_and_oral_cavity_carcinoma 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF mondo_mondo_0007268_medgen_c1861862_omim_115197 Hypertrophic cardiomyopathy 4 MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197 1 1 1.0000 condition_record_support_limited 20 0 0 Hypertrophic_cardiomyopathy_4 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF human_phenotype_ontology_hp_0000342_human_phenotype_ontology_hp_0000348_medgen_c0239676 High forehead Human_Phenotype_Ontology:HP:0000342,Human_Phenotype_Ontology:HP:0000348,MedGen:C0239676 1 1 1.0000 condition_record_support_limited 20 0 1 High_forehead 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF genetic_syndrome_with_a_dandy_walker_malformation_as_major_feature Genetic syndrome with a Dandy-Walker malformation as major feature . 1 1 1.0000 condition_record_support_limited 20 0 1 Genetic_syndrome_with_a_Dandy-Walker_malformation_as_major_feature 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF mondo_mondo_0005411_medgen_c0153452 Gallbladder cancer MONDO:MONDO:0005411,MedGen:C0153452 1 1 1.0000 condition_record_support_limited 20 0 0 Gallbladder_cancer 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF familial_cardiofaciocutaneous_syndrome Familial cardiofaciocutaneous syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_cardiofaciocutaneous_syndrome 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF human_phenotype_ontology_hp_0000494_human_phenotype_ontology_hp_0007714_human_phenotype_ontology_hp_0007908_medgen_c0423110 Downslanted palpebral fissures Human_Phenotype_Ontology:HP:0000494,Human_Phenotype_Ontology:HP:0007714,Human_Phenotype_Ontology:HP:0007908,MedGen:C0423110 1 1 1.0000 condition_record_support_limited 20 0 1 Downslanted_palpebral_fissures 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF mondo_mondo_0009072_mesh_d003616_medgen_c0010964_omim_220200_orphanet_217 Dandy-Walker syndrome MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217 1 1 1.0000 condition_record_support_limited 20 0 1 Dandy-Walker_syndrome 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF mondo_mondo_0009026_medgen_c0587248_omim_218040_orphanet_3071 Costello syndrome MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071 1 1 1.0000 condition_record_support_limited 20 0 0 Costello_syndrome 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF medgen_c1332969 Childhood ganglioglioma MedGen:C1332969 1 1 1.0000 condition_record_support_limited 20 0 1 Childhood_ganglioglioma 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BRAF human_phenotype_ontology_hp_0002408_mondo_mondo_0007154_medgen_c0917804_omim_108010_orphanet_46724 Cerebral arteriovenous malformation Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_arteriovenous_malformation 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BPTF mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BPTF human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 72 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BPNT1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 1 low_record_burden_interpretation_limited low_record_burden_gene BPHL condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene BPHL mondo_mondo_0014337_medgen_c3810407_omim_615763 Complex cortical dysplasia with other brain malformations 5 MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763 1 1 1.0000 condition_record_support_limited 20 0 1 Complex_cortical_dysplasia_with_other_brain_malformations_5 1 low_record_burden_interpretation_limited low_record_burden_gene BPGM condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene BORCS5 borcs5_related_disorder BORCS5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 BORCS5-related_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene BOLA3 bola3_related_disorder BOLA3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 BOLA3-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene BNC1 mondo_mondo_0032881_medgen_c5231474_omim_618723 Premature ovarian failure 16 MONDO:MONDO:0032881,MedGen:C5231474,OMIM:618723 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure_16 4 low_record_burden_interpretation_limited low_record_burden_gene BNC1 mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 4 low_record_burden_interpretation_limited low_record_burden_gene BMS1 human_phenotype_ontology_hp_0001057_mondo_mondo_0007145_medgen_c0282160_omim_107600_orphanet_1114 Aplasia cutis congenita Human_Phenotype_Ontology:HP:0001057,MONDO:MONDO:0007145,MedGen:C0282160,OMIM:107600,Orphanet:1114 1 1 1.0000 condition_record_support_limited 20 0 0 Aplasia_cutis_congenita 1 low_record_burden_interpretation_limited low_record_burden_gene BMPR2 mondo_mondo_0007129_medgen_c3489529_omim_106600_orphanet_99798 Tooth agenesis, selective, 1 MONDO:MONDO:0007129,MedGen:C3489529,OMIM:106600,Orphanet:99798 1 1 1.0000 condition_record_support_limited 20 0 0 Tooth_agenesis,_selective,_1 502 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMPR2 medgen_c3714844 Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia MedGen:C3714844 1 1 1.0000 condition_record_support_limited 20 0 1 Pulmonary_hypertension,_primary,_1,_with_hereditary_hemorrhagic_telangiectasia 502 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMPR2 mondo_mondo_0005149_medgen_c0020542 Pulmonary hypertension MONDO:MONDO:0005149,MedGen:C0020542 1 1 1.0000 condition_record_support_limited 20 0 0 Pulmonary_hypertension 502 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMPR2 medgen_c3697982_orphanet_275798 Pulmonary arterial hypertension associated with connective tissue disease MedGen:C3697982,Orphanet:275798 1 1 1.0000 condition_record_support_limited 20 0 1 Pulmonary_arterial_hypertension_associated_with_connective_tissue_disease 502 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMPR2 medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 1 1 1.0000 condition_record_support_limited 20 0 0 Genetic_non-acquired_premature_ovarian_failure 502 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMPR2 mondo_mondo_0017149_medgen_c0340544_orphanet_275786 Drug- or toxin-induced pulmonary arterial hypertension MONDO:MONDO:0017149,MedGen:C0340544,Orphanet:275786 1 1 1.0000 condition_record_support_limited 20 0 1 Drug-_or_toxin-induced_pulmonary_arterial_hypertension 502 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMPR1B bmpr1b_related_disorder BMPR1B-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 BMPR1B-related_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene BMPR1B mondo_mondo_0008717_medgen_c2930970_omim_201250_orphanet_968 Acromesomelic dysplasia 2C, Hunter-Thompson type MONDO:MONDO:0008717,MedGen:C2930970,OMIM:201250,Orphanet:968 1 1 1.0000 condition_record_support_limited 20 0 0 Acromesomelic_dysplasia_2C,_Hunter-Thompson_type 18 low_record_burden_interpretation_limited low_record_burden_gene BMPR1B mondo_mondo_0009231_medgen_c1856738_omim_228900_orphanet_2639 Acromesomelic dysplasia 2B MONDO:MONDO:0009231,MedGen:C1856738,OMIM:228900,Orphanet:2639 1 1 1.0000 condition_record_support_limited 20 0 1 Acromesomelic_dysplasia_2B 18 low_record_burden_interpretation_limited low_record_burden_gene BMPR1A mondo_mondo_0018604_medgen_c3896578_orphanet_440437 Familial colorectal cancer type X MONDO:MONDO:0018604,MedGen:C3896578,Orphanet:440437 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_colorectal_cancer_type_X 295 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BMPR1A bmpr1a_related_polyposis_syndrome BMPR1A-Related Polyposis Syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 BMPR1A-Related_Polyposis_Syndrome 295 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BMPER hp_0003549 HP:0003549 . 1 1 1.0000 condition_record_support_limited 20 0 0 HP:0003549 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMPER bmper_related_disorder BMPER-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 BMPER-related_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMP7 mondo_mondo_0013746_medgen_c3280777_omim_614429 Ventricular septal defect 1 MONDO:MONDO:0013746,MedGen:C3280777,OMIM:614429 1 1 1.0000 condition_record_support_limited 20 0 0 Ventricular_septal_defect_1 2 low_record_burden_interpretation_limited low_record_burden_gene BMP7 mondo_mondo_0014344_medgen_c4014310_omim_615779 Congenital heart defects, multiple types, 4 MONDO:MONDO:0014344,MedGen:C4014310,OMIM:615779 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_heart_defects,_multiple_types,_4 2 low_record_burden_interpretation_limited low_record_burden_gene BMP6 mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 1 low_record_burden_interpretation_limited low_record_burden_gene BMP4 human_phenotype_ontology_hp_0000659_mondo_mondo_0011414_medgen_c0344559_omim_604229_orphanet_708 Irido-corneo-trabecular dysgenesis Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708 1 1 1.0000 condition_record_support_limited 20 0 0 Irido-corneo-trabecular_dysgenesis 16 low_record_burden_interpretation_limited low_record_burden_gene BMP4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 16 low_record_burden_interpretation_limited low_record_burden_gene BMP2 mondo_mondo_0013746_medgen_c3280777_omim_614429 Ventricular septal defect 1 MONDO:MONDO:0013746,MedGen:C3280777,OMIM:614429 1 1 1.0000 condition_record_support_limited 20 0 0 Ventricular_septal_defect_1 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMP2 human_phenotype_ontology_hp_0031348_mondo_mondo_0019443_medgen_c3531771_omim_608808_orphanet_860 Dextro-looped transposition of the great arteries Human_Phenotype_Ontology:HP:0031348,MONDO:MONDO:0019443,MedGen:C3531771,OMIM:608808,Orphanet:860 1 1 1.0000 condition_record_support_limited 20 0 0 Dextro-looped_transposition_of_the_great_arteries 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMP2 mondo_mondo_0007172_medgen_c1862389_omim_108800_orphanet_1478 Atrial septal defect 1 MONDO:MONDO:0007172,MedGen:C1862389,OMIM:108800,Orphanet:1478 1 1 1.0000 condition_record_support_limited 20 0 0 Atrial_septal_defect_1 31 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BMP15 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 11 low_record_burden_interpretation_limited low_record_burden_gene BMP15 mondo_mondo_0800317_medgen_c1845295 Premature ovarian failure 4 MONDO:MONDO:0800317,MedGen:C1845295 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure_4 11 low_record_burden_interpretation_limited low_record_burden_gene BMP1 human_phenotype_ontology_hp_0000924_medgen_c4021790 Abnormality of the skeletal system Human_Phenotype_Ontology:HP:0000924,MedGen:C4021790 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_skeletal_system 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BLVRA condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene BLTP1 human_phenotype_ontology_hp_0012020_mondo_mondo_0020417_medgen_c0035615_orphanet_99081 Right aortic arch Human_Phenotype_Ontology:HP:0012020,MONDO:MONDO:0020417,MedGen:C0035615,Orphanet:99081 1 1 1.0000 condition_record_support_limited 20 0 1 Right_aortic_arch 53 large_gene_or_donor_burden_stress_case donor_burden_stress BLTP1 human_phenotype_ontology_hp_0000104_human_phenotype_ontology_hp_0000785_human_phenotype_ontology_hp_0004745_human_phenotype_ontology_hp_0008680_mondo_mondo_0018470_medgen_c0542519_omim_ps191830_orphanet_411709 Renal agenesis Human_Phenotype_Ontology:HP:0000104,Human_Phenotype_Ontology:HP:0000785,Human_Phenotype_Ontology:HP:0004745,Human_Phenotype_Ontology:HP:0008680,MONDO:MONDO:0018470,MedGen:C0542519,OMIM:PS191830,Orphanet:411709 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_agenesis 53 large_gene_or_donor_burden_stress_case donor_burden_stress BLTP1 human_phenotype_ontology_hp_0002202_medgen_c0032227 Pleural effusion Human_Phenotype_Ontology:HP:0002202,MedGen:C0032227 1 1 1.0000 condition_record_support_limited 20 0 1 Pleural_effusion 53 large_gene_or_donor_burden_stress_case donor_burden_stress BLTP1 human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Micrognathia Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 1.0000 condition_record_support_limited 20 0 1 Micrognathia 53 large_gene_or_donor_burden_stress_case donor_burden_stress BLTP1 human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Hydrocephalus Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 1.0000 condition_record_support_limited 20 0 1 Hydrocephalus 53 large_gene_or_donor_burden_stress_case donor_burden_stress BLTP1 human_phenotype_ontology_hp_0002937_medgen_c0265677 Hemivertebrae Human_Phenotype_Ontology:HP:0002937,MedGen:C0265677 1 1 1.0000 condition_record_support_limited 20 0 1 Hemivertebrae 53 large_gene_or_donor_burden_stress_case donor_burden_stress BLTP1 flexed_deformity Flexed deformity MedGen:CN228285 1 1 1.0000 condition_record_support_limited 20 0 1 Flexed_deformity 53 large_gene_or_donor_burden_stress_case donor_burden_stress BLTP1 mondo_mondo_0009072_mesh_d003616_medgen_c0010964_omim_220200_orphanet_217 Dandy-Walker syndrome MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217 1 1 1.0000 condition_record_support_limited 20 0 1 Dandy-Walker_syndrome 53 large_gene_or_donor_burden_stress_case donor_burden_stress BLOC1S6 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BLOC1S5 mondo_mondo_0019312_medgen_c0079504_omim_ps203300_orphanet_79430 Hermansky-Pudlak syndrome MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430 1 1 1.0000 condition_record_support_limited 20 0 1 Hermansky-Pudlak_syndrome 5 low_record_burden_interpretation_limited low_record_burden_gene BLOC1S5 bloc1s5_related_disorder BLOC1S5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 BLOC1S5-related_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene BLM mondo_mondo_0016419_medgen_c0346153_omim_114480_orphanet_227535 Familial cancer of breast MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_cancer_of_breast 583 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BLM human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Endometrial carcinoma Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 1 1 1.0000 condition_record_support_limited 20 0 1 Endometrial_carcinoma 583 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BLK mondo_mondo_0013242_medgen_c3150618_omim_613375_orphanet_552 Maturity-onset diabetes of the young type 11 MONDO:MONDO:0013242,MedGen:C3150618,OMIM:613375,Orphanet:552 1 1 1.0000 condition_record_support_limited 20 0 0 Maturity-onset_diabetes_of_the_young_type_11 3 low_record_burden_interpretation_limited low_record_burden_gene BIN1 bin1_related_disorder BIN1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 BIN1-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene BICRA human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICRA css12_schizoaffective_disorder_bipolar_type_adult_onset_psychiatric_condition CSS12 + schizoaffective disorder, bipolar type/adult-onset psychiatric condition . 1 1 1.0000 condition_record_support_limited 20 0 0 CSS12_+_schizoaffective_disorder,_bipolar_type/adult-onset_psychiatric_condition 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICRA bicra_related_coffin_siris_syndrome BICRA-related Coffin-Siris syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 BICRA-related_Coffin-Siris_syndrome 43 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICD2 human_phenotype_ontology_hp_0001182_human_phenotype_ontology_hp_0005795_human_phenotype_ontology_hp_0005800_human_phenotype_ontology_hp_0006032_human_phenotype_ontology_hp_0006080_human_phenotype_ontology_hp_0006098_human_phenotype_ontology_hp_0006111_human_phenotype_ontology_hp_0006125_human_phenotype_ontology_hp_0006244_human_phenotype_ontology_hp_0007532_medgen_c0426886 Tapered finger Human_Phenotype_Ontology:HP:0001182,Human_Phenotype_Ontology:HP:0005795,Human_Phenotype_Ontology:HP:0005800,Human_Phenotype_Ontology:HP:0006032,Human_Phenotype_Ontology:HP:0006080,Human_Phenotype_Ontology:HP:0006098,Human_Phenotype_Ontology:HP:0006111,Human_Phenotype_Ontology:HP:0006125,Human_Phenotype_Ontology:HP:0006244,Human_Phenotype_Ontology:HP:0007532,MedGen:C0426886 1 1 1.0000 condition_record_support_limited 20 0 1 Tapered_finger 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICD2 spinal_muscular_atrophy_lower_extremity_predominant_2_ad Spinal muscular atrophy, lower extremity-predominant, 2, AD . 1 1 1.0000 condition_record_support_limited 20 0 1 Spinal_muscular_atrophy,_lower_extremity-predominant,_2,_AD 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICD2 mondo_mondo_0018190_medgen_c1834690_omim_ps158600_orphanet_363447 Spinal muscular atrophy with lower extremity predominance MONDO:MONDO:0018190,MedGen:C1834690,OMIM:PS158600,Orphanet:363447 1 1 1.0000 condition_record_support_limited 20 0 0 Spinal_muscular_atrophy_with_lower_extremity_predominance 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICD2 human_phenotype_ontology_hp_0007269_mondo_mondo_0001516_mesh_d009134_medgen_c0026847_omim_ps253300 Spinal muscular atrophy Human_Phenotype_Ontology:HP:0007269,MONDO:MONDO:0001516,MeSH:D009134,MedGen:C0026847,OMIM:PS253300 1 1 1.0000 condition_record_support_limited 20 0 1 Spinal_muscular_atrophy 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICD2 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_paraplegia 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICD2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICD2 human_phenotype_ontology_hp_0002660_human_phenotype_ontology_hp_0002757_human_phenotype_ontology_hp_0002767_human_phenotype_ontology_hp_0002809_medgen_c0016655 Recurrent fractures Human_Phenotype_Ontology:HP:0002660,Human_Phenotype_Ontology:HP:0002757,Human_Phenotype_Ontology:HP:0002767,Human_Phenotype_Ontology:HP:0002809,MedGen:C0016655 1 1 1.0000 condition_record_support_limited 20 0 1 Recurrent_fractures 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICD2 human_phenotype_ontology_hp_0000194_medgen_c0240379 Open mouth Human_Phenotype_Ontology:HP:0000194,MedGen:C0240379 1 1 1.0000 condition_record_support_limited 20 0 1 Open_mouth 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICD2 human_phenotype_ontology_hp_0001299_human_phenotype_ontology_hp_0003202_human_phenotype_ontology_hp_0003545_human_phenotype_ontology_hp_0003671_human_phenotype_ontology_hp_0003702_human_phenotype_ontology_hp_0003746_human_phenotype_ontology_hp_0006995_human_phenotype_ontology_hp_0007171_human_phenotype_ontology_hp_0007356_human_phenotype_ontology_hp_0009010_human_phenotype_ontology_hp_0009048_human_phenotype_ontology_hp_0100868_mondo_mondo_0004323_medgen_c0541794 Muscular atrophy Human_Phenotype_Ontology:HP:0001299,Human_Phenotype_Ontology:HP:0003202,Human_Phenotype_Ontology:HP:0003545,Human_Phenotype_Ontology:HP:0003671,Human_Phenotype_Ontology:HP:0003702,Human_Phenotype_Ontology:HP:0003746,Human_Phenotype_Ontology:HP:0006995,Human_Phenotype_Ontology:HP:0007171,Human_Phenotype_Ontology:HP:0007356,Human_Phenotype_Ontology:HP:0009010,Human_Phenotype_Ontology:HP:0009048,Human_Phenotype_Ontology:HP:0100868,MONDO:MONDO:0004323,MedGen:C0541794 1 1 1.0000 condition_record_support_limited 20 0 1 Muscular_atrophy 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICD2 human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Muscle weakness Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 1 1 1.0000 condition_record_support_limited 20 0 1 Muscle_weakness 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICD2 human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICD2 human_phenotype_ontology_hp_0011968_medgen_c0232466 Feeding difficulties Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466 1 1 1.0000 condition_record_support_limited 20 0 1 Feeding_difficulties 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICD2 human_phenotype_ontology_hp_0001346_human_phenotype_ontology_hp_0002353_human_phenotype_ontology_hp_0002429_human_phenotype_ontology_hp_0006841_medgen_c0151611 EEG abnormality Human_Phenotype_Ontology:HP:0001346,Human_Phenotype_Ontology:HP:0002353,Human_Phenotype_Ontology:HP:0002429,Human_Phenotype_Ontology:HP:0006841,MedGen:C0151611 1 1 1.0000 condition_record_support_limited 20 0 1 EEG_abnormality 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICD2 human_phenotype_ontology_hp_0000192_human_phenotype_ontology_hp_0002714_medgen_c1866195 Downturned corners of mouth Human_Phenotype_Ontology:HP:0000192,Human_Phenotype_Ontology:HP:0002714,MedGen:C1866195 1 1 1.0000 condition_record_support_limited 20 0 1 Downturned_corners_of_mouth 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICD2 mondo_mondo_0018949_medgen_c0751336_omim_ps160500_orphanet_599 Distal myopathy MONDO:MONDO:0018949,MedGen:C0751336,OMIM:PS160500,Orphanet:599 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_myopathy 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICD2 human_phenotype_ontology_hp_0001558_human_phenotype_ontology_hp_0001559_human_phenotype_ontology_hp_0006840_human_phenotype_ontology_hp_0007630_human_phenotype_ontology_hp_0007631_medgen_c0235659 Decreased fetal movement Human_Phenotype_Ontology:HP:0001558,Human_Phenotype_Ontology:HP:0001559,Human_Phenotype_Ontology:HP:0006840,Human_Phenotype_Ontology:HP:0007630,Human_Phenotype_Ontology:HP:0007631,MedGen:C0235659 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_fetal_movement 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICD2 human_phenotype_ontology_hp_0002120_human_phenotype_ontology_hp_0006823_human_phenotype_ontology_hp_0006835_medgen_c4551583 Cerebral cortical atrophy Human_Phenotype_Ontology:HP:0002120,Human_Phenotype_Ontology:HP:0006823,Human_Phenotype_Ontology:HP:0006835,MedGen:C4551583 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_cortical_atrophy 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICD2 bicd2_related_autosomal_recessive_cohen_like_syndrome BICD2-related Autosomal recessive Cohen Like syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 BICD2-related_Autosomal_recessive_Cohen_Like_syndrome 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICD2 medgen_c5680676_orphanet_140456 Autosomal dominant hereditary axonal motor and sensory neuropathy MedGen:C5680676,Orphanet:140456 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_hereditary_axonal_motor_and_sensory_neuropathy 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICD2 human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis_multiplex_congenita 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICD2 human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Absent speech Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 1.0000 condition_record_support_limited 20 0 1 Absent_speech 38 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BICC1 human_phenotype_ontology_hp_0000104_human_phenotype_ontology_hp_0000785_human_phenotype_ontology_hp_0004745_human_phenotype_ontology_hp_0008680_mondo_mondo_0018470_medgen_c0542519_omim_ps191830_orphanet_411709 Renal agenesis Human_Phenotype_Ontology:HP:0000104,Human_Phenotype_Ontology:HP:0000785,Human_Phenotype_Ontology:HP:0004745,Human_Phenotype_Ontology:HP:0008680,MONDO:MONDO:0018470,MedGen:C0542519,OMIM:PS191830,Orphanet:411709 1 1 1.0000 condition_record_support_limited 20 0 0 Renal_agenesis 5 low_record_burden_interpretation_limited low_record_burden_gene BHLHA9 mondo_mondo_0011853_medgen_c1843758_omim_607539 Camptosynpolydactyly, complex MONDO:MONDO:0011853,MedGen:C1843758,OMIM:607539 1 1 1.0000 condition_record_support_limited 20 0 0 Camptosynpolydactyly,_complex 5 low_record_burden_interpretation_limited low_record_burden_gene BGN mondo_mondo_0019625_medgen_c4707243_omim_ps607086_orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_thoracic_aortic_aneurysm_and_aortic_dissection 17 low_record_burden_interpretation_limited low_record_burden_gene BGN familial_aortopathy Familial aortopathy MedGen:CN078214 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_aortopathy 17 low_record_burden_interpretation_limited low_record_burden_gene BFSP2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene BFSP2 human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 1.0000 condition_record_support_limited 20 0 1 Strabismus 3 low_record_burden_interpretation_limited low_record_burden_gene BFSP2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 3 low_record_burden_interpretation_limited low_record_burden_gene BFSP2 human_phenotype_ontology_hp_0000639_mondo_mondo_0004843_medgen_c0028738 Nystagmus Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738 1 1 1.0000 condition_record_support_limited 20 0 1 Nystagmus 3 low_record_burden_interpretation_limited low_record_burden_gene BFSP2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 3 low_record_burden_interpretation_limited low_record_burden_gene BFSP2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 3 low_record_burden_interpretation_limited low_record_burden_gene BFSP2 human_phenotype_ontology_hp_0000518_mondo_mondo_0005129_mesh_d002386_medgen_c0086543_omim_ps116200 Cataract Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200 1 1 1.0000 condition_record_support_limited 20 0 1 Cataract 3 low_record_burden_interpretation_limited low_record_burden_gene BFSP2 bfsp2_related_disorder BFSP2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 BFSP2-related_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene BFSP2 human_phenotype_ontology_hp_0000765_human_phenotype_ontology_hp_0100655_medgen_c4021797 Abnormal thorax morphology Human_Phenotype_Ontology:HP:0000765,Human_Phenotype_Ontology:HP:0100655,MedGen:C4021797 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_thorax_morphology 3 low_record_burden_interpretation_limited low_record_burden_gene BFSP1 human_phenotype_ontology_hp_0000519_human_phenotype_ontology_hp_0001108_human_phenotype_ontology_hp_0007679_human_phenotype_ontology_hp_0007726_human_phenotype_ontology_hp_0007788_medgen_c0009691 Developmental cataract Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_cataract 7 low_record_burden_interpretation_limited low_record_burden_gene BEST1 mondo_mondo_0007933_medgen_c4551953_omim_153840_orphanet_99000 Vitelliform macular dystrophy 1 MONDO:MONDO:0007933,MedGen:C4551953,OMIM:153840,Orphanet:99000 1 1 1.0000 condition_record_support_limited 20 0 1 Vitelliform_macular_dystrophy_1 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BEST1 mondo_mondo_0009549_mesh_d000080362_medgen_c1855465_omim_248200_orphanet_364055_orphanet_827 Severe early-childhood-onset retinal dystrophy MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_early-childhood-onset_retinal_dystrophy 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BEST1 mondo_mondo_0800296_medgen_c5435648 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 MONDO:MONDO:0800296,MedGen:C5435648 1 1 1.0000 condition_record_support_limited 20 0 1 Microcornea,_rod-cone_dystrophy,_cataract,_and_posterior_staphyloma_2 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BEST1 medgen_c1135954 Incidental Discovery MedGen:C1135954 1 1 1.0000 condition_record_support_limited 20 0 1 Incidental_Discovery 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BDP1 medgen_c0011053 Deafness MedGen:C0011053 1 1 1.0000 condition_record_support_limited 20 0 0 Deafness 3 low_record_burden_interpretation_limited low_record_burden_gene BDNF human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 1.0000 condition_record_support_limited 20 0 0 Obesity 2 low_record_burden_interpretation_limited low_record_burden_gene BDNF mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 2 low_record_burden_interpretation_limited low_record_burden_gene BCS1L human_phenotype_ontology_hp_0002237_human_phenotype_ontology_hp_0002291_human_phenotype_ontology_hp_0004522_human_phenotype_ontology_hp_0004538_human_phenotype_ontology_hp_0008070_medgen_c5551005 Sparse hair Human_Phenotype_Ontology:HP:0002237,Human_Phenotype_Ontology:HP:0002291,Human_Phenotype_Ontology:HP:0004522,Human_Phenotype_Ontology:HP:0004538,Human_Phenotype_Ontology:HP:0008070,MedGen:C5551005 1 1 1.0000 condition_record_support_limited 20 0 1 Sparse_hair 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCS1L human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCS1L medgen_c0235820 Neonatal encephalopathy MedGen:C0235820 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_encephalopathy 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCS1L human_phenotype_ontology_hp_0001294_human_phenotype_ontology_hp_0100022_mondo_mondo_0005395_medgen_c0026650 Movement disorder Human_Phenotype_Ontology:HP:0001294,Human_Phenotype_Ontology:HP:0100022,MONDO:MONDO:0005395,MedGen:C0026650 1 1 1.0000 condition_record_support_limited 20 0 1 Movement_disorder 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCS1L human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCS1L human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCS1L autosomal_recessive_bcs1l_related_disorders Autosomal recessive BCS1L-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_BCS1L-related_disorders 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCORL1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 7 low_record_burden_interpretation_limited low_record_burden_gene BCORL1 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 7 low_record_burden_interpretation_limited low_record_burden_gene BCORL1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 7 low_record_burden_interpretation_limited low_record_burden_gene BCOR x_linked_bcor_related_disorders X-linked BCOR-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 X-linked_BCOR-related_disorders 114 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BCOR oculofaciocardiodental_syndrome_ofcd Oculofaciocardiodental syndrome (OFCD) . 1 1 1.0000 condition_record_support_limited 20 0 0 Oculofaciocardiodental_syndrome_(OFCD) 114 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BCOR mondo_mondo_0016764_medgen_c5679828_orphanet_2542 Isolated anophthalmia-microphthalmia syndrome MONDO:MONDO:0016764,MedGen:C5679828,Orphanet:2542 1 1 1.0000 condition_record_support_limited 20 0 0 Isolated_anophthalmia-microphthalmia_syndrome 114 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BCOR mondo_mondo_0018177_mesh_d005909_medgen_c0017636_orphanet_360 Glioblastoma MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360 1 1 1.0000 condition_record_support_limited 20 0 1 Glioblastoma 114 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BCOR human_phenotype_ontology_hp_0001914_human_phenotype_ontology_hp_0004808_human_phenotype_ontology_hp_0004843_human_phenotype_ontology_hp_0005516_human_phenotype_ontology_hp_0006724_human_phenotype_ontology_hp_0006728_mondo_mondo_0018874_mesh_d015470_medgen_c0023467_omim_601626_orphanet_519 Acute myeloid leukemia Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519 1 1 1.0000 condition_record_support_limited 20 0 0 Acute_myeloid_leukemia 114 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture BCL11B human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 0 Microcephaly 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL11B human_phenotype_ontology_hp_0005387_mondo_mondo_0015131_medgen_c2711630_orphanet_101972 Combined immunodeficiency Human_Phenotype_Ontology:HP:0005387,MONDO:MONDO:0015131,MedGen:C2711630,Orphanet:101972 1 1 1.0000 condition_record_support_limited 20 0 1 Combined_immunodeficiency 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL11B mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 68 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL11A human_phenotype_ontology_hp_0005808_human_phenotype_ontology_hp_0100259_mondo_mondo_0020927_medgen_c0220697_omim_ps174200 Postaxial polydactyly Human_Phenotype_Ontology:HP:0005808,Human_Phenotype_Ontology:HP:0100259,MONDO:MONDO:0020927,MedGen:C0220697,OMIM:PS174200 1 1 1.0000 condition_record_support_limited 20 0 1 Postaxial_polydactyly 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL11A marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 1 1 1.0000 condition_record_support_limited 20 0 1 Marfanoid_habitus_and_intellectual_disability 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL11A human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL11A human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL11A human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Corpus callosum, agenesis of Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 1.0000 condition_record_support_limited 20 0 1 Corpus_callosum,_agenesis_of 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL11A human_phenotype_ontology_hp_0001320_medgen_c1840379 Cerebellar vermis hypoplasia Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_vermis_hypoplasia 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL11A bcl11a_related_disorder BCL11A-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 BCL11A-related_disorder 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL10 human_phenotype_ontology_hp_0006727_mondo_mondo_0004963_medgen_c1961099 T-cell acute lymphoblastic leukemia Human_Phenotype_Ontology:HP:0006727,MONDO:MONDO:0004963,MedGen:C1961099 1 1 1.0000 condition_record_support_limited 20 0 1 T-cell_acute_lymphoblastic_leukemia 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL10 mondo_mondo_0017844_medgen_c0036920_orphanet_3162 Sezary syndrome MONDO:MONDO:0017844,MedGen:C0036920,Orphanet:3162 1 1 1.0000 condition_record_support_limited 20 0 0 Sezary_syndrome 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL10 mondo_mondo_0005447_medgen_c0153594 Malignant tumor of testis MONDO:MONDO:0005447,MedGen:C0153594 1 1 1.0000 condition_record_support_limited 20 0 0 Malignant_tumor_of_testis 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCL10 mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 1 1 1.0000 condition_record_support_limited 20 0 1 Carcinoma_of_colon 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCKDK mondo_mondo_0023691_medgen_c1855369_omim_248600 Maple syrup urine disease type 1A MONDO:MONDO:0023691,MedGen:C1855369,OMIM:248600 1 1 1.0000 condition_record_support_limited 20 0 0 Maple_syrup_urine_disease_type_1A 17 low_record_burden_interpretation_limited low_record_burden_gene BCKDK human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 17 low_record_burden_interpretation_limited low_record_burden_gene BCKDHB human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 225 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCKDHA likely_inborn_error_of_metabolism Likely inborn error of metabolism . 1 1 1.0000 condition_record_support_limited 20 0 1 Likely_inborn_error_of_metabolism 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCKDHA bckdha_related_disorder BCKDHA-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 BCKDHA-related_disorder 182 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCHE medgen_c1867468 Postanesthetic apnea MedGen:C1867468 1 1 1.0000 condition_record_support_limited 20 0 1 Postanesthetic_apnea 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCHE medgen_c1867469 Butyrylcholinesterase deficiency, fluoride-resistant, Japanese type MedGen:C1867469 1 1 1.0000 condition_record_support_limited 20 0 1 Butyrylcholinesterase_deficiency,_fluoride-resistant,_Japanese_type 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCHE bche_h_variant BCHE, H variant . 1 1 1.0000 condition_record_support_limited 20 0 1 BCHE,_H_variant 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCHE autosomal_recessive_bche_related_disorders Autosomal recessive BCHE-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_BCHE-related_disorders 57 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BCAS3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 16 low_record_burden_interpretation_limited low_record_burden_gene BCAR1 mondo_mondo_0003582_mesh_d061325_medgen_c0677776_orphanet_145 Hereditary breast ovarian cancer syndrome MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_breast_ovarian_cancer_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene BCAP31 bcap31_related_disorder BCAP31-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 BCAP31-related_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene BCAM medgen_c0024171_omim_111200 BLOOD GROUP--LUTHERAN SYSTEM MedGen:C0024171,OMIM:111200 1 1 1.0000 condition_record_support_limited 20 0 0 BLOOD_GROUP--LUTHERAN_SYSTEM 4 low_record_burden_interpretation_limited low_record_burden_gene BBS9 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS9 retinal_vascular_dystrophy Retinal vascular dystrophy . 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_vascular_dystrophy 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS9 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_disorder 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS9 mondo_mondo_0011752_medgen_c1847013_omim_606966_orphanet_655 Nephronophthisis 4 MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655 1 1 1.0000 condition_record_support_limited 20 0 1 Nephronophthisis_4 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS9 mondo_mondo_0008854_medgen_c2936862_omim_209900 Bardet-Biedl syndrome 1 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 1 1 1.0000 condition_record_support_limited 20 0 1 Bardet-Biedl_syndrome_1 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS7 human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 1.0000 condition_record_support_limited 20 0 1 Optic_atrophy 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS7 human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 1.0000 condition_record_support_limited 20 0 0 Focal_segmental_glomerulosclerosis 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS7 medgen_c4016435 Bardet-Biedl syndrome 1/7, digenic MedGen:C4016435 1 1 1.0000 condition_record_support_limited 20 0 1 Bardet-Biedl_syndrome_1/7,_digenic 139 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS5 medgen_c4013980 Early onset severe obesity MedGen:C4013980 1 1 1.0000 condition_record_support_limited 20 0 0 Early_onset_severe_obesity 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS5 mondo_mondo_0000455_medgen_c0730290_orphanet_1871 Cone dystrophy MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 1.0000 condition_record_support_limited 20 0 1 Cone_dystrophy 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS4 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 157 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS2 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS2 medgen_c4016956 Bardet-biedl syndrome 2/4, digenic MedGen:C4016956 1 1 1.0000 condition_record_support_limited 20 0 1 Bardet-biedl_syndrome_2/4,_digenic 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS2 mondo_mondo_0008854_medgen_c2936862_omim_209900 Bardet-Biedl syndrome 1 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 1 1 1.0000 condition_record_support_limited 20 0 0 Bardet-Biedl_syndrome_1 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS2 medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_retinitis_pigmentosa 264 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS12 human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Visual impairment Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 1.0000 condition_record_support_limited 20 0 1 Visual_impairment 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS12 mondo_mondo_0008266_medgen_c4282400_omim_174200 Polydactyly, postaxial, type A1 MONDO:MONDO:0008266,MedGen:C4282400,OMIM:174200 1 1 1.0000 condition_record_support_limited 20 0 1 Polydactyly,_postaxial,_type_A1 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS12 human_phenotype_ontology_hp_0002540_medgen_c0560046 Inability to walk Human_Phenotype_Ontology:HP:0002540,MedGen:C0560046 1 1 1.0000 condition_record_support_limited 20 0 1 Inability_to_walk 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS12 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS12 human_phenotype_ontology_hp_0001632_human_phenotype_ontology_hp_0002564_human_phenotype_ontology_hp_0002565_human_phenotype_ontology_hp_0030680_medgen_c4049796 Abnormal cardiovascular system morphology Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cardiovascular_system_morphology 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS10 human_phenotype_ontology_hp_0001162_human_phenotype_ontology_hp_0004698_human_phenotype_ontology_hp_0005763_human_phenotype_ontology_hp_0009984_mondo_mondo_0017426_medgen_c0431904 Postaxial hand polydactyly Human_Phenotype_Ontology:HP:0001162,Human_Phenotype_Ontology:HP:0004698,Human_Phenotype_Ontology:HP:0005763,Human_Phenotype_Ontology:HP:0009984,MONDO:MONDO:0017426,MedGen:C0431904 1 1 1.0000 condition_record_support_limited 20 0 1 Postaxial_hand_polydactyly 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS10 human_phenotype_ontology_hp_0000608_human_phenotype_ontology_hp_0007694_mondo_mondo_0003004_medgen_c0024437 Macular degeneration Human_Phenotype_Ontology:HP:0000608,Human_Phenotype_Ontology:HP:0007694,MONDO:MONDO:0003004,MedGen:C0024437 1 1 1.0000 condition_record_support_limited 20 0 1 Macular_degeneration 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS10 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS10 human_phenotype_ontology_hp_0005101_human_phenotype_ontology_hp_0008522_human_phenotype_ontology_hp_0008584_human_phenotype_ontology_hp_0008597_medgen_c0018780 High-frequency hearing impairment Human_Phenotype_Ontology:HP:0005101,Human_Phenotype_Ontology:HP:0008522,Human_Phenotype_Ontology:HP:0008584,Human_Phenotype_Ontology:HP:0008597,MedGen:C0018780 1 1 1.0000 condition_record_support_limited 20 0 1 High-frequency_hearing_impairment 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS10 human_phenotype_ontology_hp_0001829_human_phenotype_ontology_hp_0009135_medgen_c0158734 Foot polydactyly Human_Phenotype_Ontology:HP:0001829,Human_Phenotype_Ontology:HP:0009135,MedGen:C0158734 1 1 1.0000 condition_record_support_limited 20 0 1 Foot_polydactyly 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS10 medgen_c4017660 Bardet-biedl syndrome 6/10, digenic MedGen:C4017660 1 1 1.0000 condition_record_support_limited 20 0 1 Bardet-biedl_syndrome_6/10,_digenic 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS10 medgen_c4017206 Bardet-biedl syndrome 1/10, digenic MedGen:C4017206 1 1 1.0000 condition_record_support_limited 20 0 1 Bardet-biedl_syndrome_1/10,_digenic 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS10 mondo_mondo_0013127_medgen_c0036069_omim_613091_orphanet_474_orphanet_93269_orphanet_93270_orphanet_93271 Asphyxiating thoracic dystrophy 3 MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271 1 1 1.0000 condition_record_support_limited 20 0 1 Asphyxiating_thoracic_dystrophy_3 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS1 mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 Usher syndrome MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 1 1 1.0000 condition_record_support_limited 20 0 1 Usher_syndrome 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS1 mondo_mondo_0009549_mesh_d000080362_medgen_c1855465_omim_248200_orphanet_364055_orphanet_827 Severe early-childhood-onset retinal dystrophy MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_early-childhood-onset_retinal_dystrophy 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBS1 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BBOF1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene BBIP1 human_phenotype_ontology_hp_0001328_human_phenotype_ontology_hp_0007234_mondo_mondo_0016225_medgen_c4025790_orphanet_211047 Specific learning disability Human_Phenotype_Ontology:HP:0001328,Human_Phenotype_Ontology:HP:0007234,MONDO:MONDO:0016225,MedGen:C4025790,Orphanet:211047 1 1 1.0000 condition_record_support_limited 20 0 1 Specific_learning_disability 2 low_record_burden_interpretation_limited low_record_burden_gene BBIP1 human_phenotype_ontology_hp_0000304_human_phenotype_ontology_hp_0000311_human_phenotype_ontology_hp_0004653_medgen_c0239479 Round face Human_Phenotype_Ontology:HP:0000304,Human_Phenotype_Ontology:HP:0000311,Human_Phenotype_Ontology:HP:0004653,MedGen:C0239479 1 1 1.0000 condition_record_support_limited 20 0 1 Round_face 2 low_record_burden_interpretation_limited low_record_burden_gene BBIP1 human_phenotype_ontology_hp_0000510_human_phenotype_ontology_hp_0001127_human_phenotype_ontology_hp_0007635_human_phenotype_ontology_hp_0007645_human_phenotype_ontology_hp_0007742_human_phenotype_ontology_hp_0007816_human_phenotype_ontology_hp_0007826_human_phenotype_ontology_hp_0007927_human_phenotype_ontology_hp_0008036_medgen_c4551714 Rod-cone dystrophy Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714 1 1 1.0000 condition_record_support_limited 20 0 1 Rod-cone_dystrophy 2 low_record_burden_interpretation_limited low_record_burden_gene BBIP1 human_phenotype_ontology_hp_0001162_human_phenotype_ontology_hp_0004698_human_phenotype_ontology_hp_0005763_human_phenotype_ontology_hp_0009984_mondo_mondo_0017426_medgen_c0431904 Postaxial hand polydactyly Human_Phenotype_Ontology:HP:0001162,Human_Phenotype_Ontology:HP:0004698,Human_Phenotype_Ontology:HP:0005763,Human_Phenotype_Ontology:HP:0009984,MONDO:MONDO:0017426,MedGen:C0431904 1 1 1.0000 condition_record_support_limited 20 0 1 Postaxial_hand_polydactyly 2 low_record_burden_interpretation_limited low_record_burden_gene BBIP1 human_phenotype_ontology_hp_0001513_mondo_mondo_0011122_mesh_d009765_medgen_c0028754_orphanet_71529 Obesity Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529 1 1 1.0000 condition_record_support_limited 20 0 1 Obesity 2 low_record_burden_interpretation_limited low_record_burden_gene BBIP1 human_phenotype_ontology_hp_0000314_human_phenotype_ontology_hp_0000341_human_phenotype_ontology_hp_0004674_human_phenotype_ontology_hp_0004677_medgen_c1839758 Narrow forehead Human_Phenotype_Ontology:HP:0000314,Human_Phenotype_Ontology:HP:0000341,Human_Phenotype_Ontology:HP:0004674,Human_Phenotype_Ontology:HP:0004677,MedGen:C1839758 1 1 1.0000 condition_record_support_limited 20 0 1 Narrow_forehead 2 low_record_burden_interpretation_limited low_record_burden_gene BBIP1 human_phenotype_ontology_hp_0000038_human_phenotype_ontology_hp_0000054_medgen_c4551492 Micropenis Human_Phenotype_Ontology:HP:0000038,Human_Phenotype_Ontology:HP:0000054,MedGen:C4551492 1 1 1.0000 condition_record_support_limited 20 0 1 Micropenis 2 low_record_burden_interpretation_limited low_record_burden_gene BBIP1 mondo_mondo_0007794_medgen_c0342384_omim_146110_orphanet_432 Hypogonadotropic hypogonadism 7 with or without anosmia MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432 1 1 1.0000 condition_record_support_limited 20 0 1 Hypogonadotropic_hypogonadism_7_with_or_without_anosmia 2 low_record_burden_interpretation_limited low_record_burden_gene BBIP1 human_phenotype_ontology_hp_0010649_medgen_c4023759 Flat nasal alae Human_Phenotype_Ontology:HP:0010649,MedGen:C4023759 1 1 1.0000 condition_record_support_limited 20 0 1 Flat_nasal_alae 2 low_record_burden_interpretation_limited low_record_burden_gene BBIP1 human_phenotype_ontology_hp_0000494_human_phenotype_ontology_hp_0007714_human_phenotype_ontology_hp_0007908_medgen_c0423110 Downslanted palpebral fissures Human_Phenotype_Ontology:HP:0000494,Human_Phenotype_Ontology:HP:0007714,Human_Phenotype_Ontology:HP:0007908,MedGen:C0423110 1 1 1.0000 condition_record_support_limited 20 0 1 Downslanted_palpebral_fissures 2 low_record_burden_interpretation_limited low_record_burden_gene BBIP1 mondo_mondo_0014446_medgen_c3806174_omim_615995_orphanet_110 Bardet-Biedl syndrome 18 MONDO:MONDO:0014446,MedGen:C3806174,OMIM:615995,Orphanet:110 1 1 1.0000 condition_record_support_limited 20 0 1 Bardet-Biedl_syndrome_18 2 low_record_burden_interpretation_limited low_record_burden_gene BBIP1 mondo_mondo_0008854_medgen_c2936862_omim_209900 Bardet-Biedl syndrome 1 MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900 1 1 1.0000 condition_record_support_limited 20 0 1 Bardet-Biedl_syndrome_1 2 low_record_burden_interpretation_limited low_record_burden_gene BAZ2B baz2b_associated_neurodevelopmental_disorder BAZ2B-associated neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 BAZ2B-associated_neurodevelopmental_disorder 18 low_record_burden_interpretation_limited low_record_burden_gene BAZ1A vater_vacterl_association_with_cns_malformations VATER/VACTERL association with CNS malformations . 1 1 1.0000 condition_record_support_limited 20 0 0 VATER/VACTERL_association_with_CNS_malformations 1 low_record_burden_interpretation_limited low_record_burden_gene BAX mondo_mondo_0013277_medgen_c3150731_omim_613477_orphanet_3451 Developmental and epileptic encephalopathy, 5 MONDO:MONDO:0013277,MedGen:C3150731,OMIM:613477,Orphanet:3451 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_5 4 low_record_burden_interpretation_limited low_record_burden_gene BAX mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 1 1 1.0000 condition_record_support_limited 20 0 0 Carcinoma_of_colon 4 low_record_burden_interpretation_limited low_record_burden_gene BARD1 human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Ovarian neoplasm Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_neoplasm 610 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BARD1 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 610 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BARD1 human_phenotype_ontology_hp_0012114_mondo_mondo_0002447_medgen_c0476089_omim_608089 Endometrial carcinoma Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089 1 1 1.0000 condition_record_support_limited 20 0 1 Endometrial_carcinoma 610 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BARD1 human_phenotype_ontology_hp_0010623_human_phenotype_ontology_hp_0100013_mondo_mondo_0021100_mesh_d001943_medgen_c1458155 Breast neoplasm Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155 1 1 1.0000 condition_record_support_limited 20 0 1 Breast_neoplasm 610 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BARD1 medgen_c3469522 Breast cancer, susceptibility to MedGen:C3469522 1 1 1.0000 condition_record_support_limited 20 0 1 Breast_cancer,_susceptibility_to 610 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BARD1 autosomal_dominant_bard1_related_disorders Autosomal dominant BARD1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_BARD1-related_disorders 610 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BAP1 human_phenotype_ontology_hp_0007716_mondo_mondo_0006486_medgen_c0220633_omim_155720_orphanet_39044 Uveal melanoma Human_Phenotype_Ontology:HP:0007716,MONDO:MONDO:0006486,MedGen:C0220633,OMIM:155720,Orphanet:39044 1 1 1.0000 condition_record_support_limited 20 0 0 Uveal_melanoma 413 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BAP1 human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 413 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BAP1 mondo_mondo_0018961_medgen_c1512419_orphanet_618 Familial melanoma MONDO:MONDO:0018961,MedGen:C1512419,Orphanet:618 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_melanoma 413 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BAP1 bap1_related_disorder BAP1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 BAP1-related_disorder 413 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BAP1 bap1_cancer_syndrome BAP1 Cancer Syndrome MedGen:CN235077 1 1 1.0000 condition_record_support_limited 20 0 1 BAP1_Cancer_Syndrome 413 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BAP1 human_phenotype_ontology_hp_0009592_mondo_mondo_0019781_mesh_d001254_medgen_c0004114 Astrocytoma Human_Phenotype_Ontology:HP:0009592,MONDO:MONDO:0019781,MeSH:D001254,MedGen:C0004114 1 1 1.0000 condition_record_support_limited 20 0 1 Astrocytoma 413 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control BAG5 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 1.0000 condition_record_support_limited 20 0 0 Cardiomyopathy 5 low_record_burden_interpretation_limited low_record_burden_gene BAG3 human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Peripheral neuropathy Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 1.0000 condition_record_support_limited 20 0 1 Peripheral_neuropathy 154 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BAG3 mondo_mondo_0976226_medgen_c5975628_omim_621094 Neuronopathy, distal hereditary motor, autosomal dominant 15 MONDO:MONDO:0976226,MedGen:C5975628,OMIM:621094 1 1 1.0000 condition_record_support_limited 20 0 0 Neuronopathy,_distal_hereditary_motor,_autosomal_dominant_15 154 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BAG3 human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_musculature 154 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture BACH2 mondo_mondo_0032723_medgen_c5193072_omim_618394 Immunodeficiency 60 MONDO:MONDO:0032723,MedGen:C5193072,OMIM:618394 1 1 1.0000 condition_record_support_limited 20 0 0 Immunodeficiency_60 1 low_record_burden_interpretation_limited low_record_burden_gene BAAT baat_related_disorder BAAT-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 BAAT-related_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene B9D2 mondo_mondo_0018921_medgen_c0265215_omim_ps249000_orphanet_564 Meckel-Gruber syndrome MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564 1 1 1.0000 condition_record_support_limited 20 0 1 Meckel-Gruber_syndrome 10 low_record_burden_interpretation_limited low_record_burden_gene B9D1 mondo_mondo_0015369_medgen_c5679612_orphanet_140874 Joubert syndrome and related disorders MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874 1 1 1.0000 condition_record_support_limited 20 0 1 Joubert_syndrome_and_related_disorders 14 low_record_burden_interpretation_limited low_record_burden_gene B9D1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 14 low_record_burden_interpretation_limited low_record_burden_gene B9D1 b9d1_related_disorder B9D1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 B9D1-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene B4GAT1 mondo_mondo_0009364_medgen_c4284790_omim_236670_orphanet_588_orphanet_899 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899 1 1 1.0000 condition_record_support_limited 20 0 1 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1 6 low_record_burden_interpretation_limited low_record_burden_gene B4GALT7 human_phenotype_ontology_hp_0005716_human_phenotype_ontology_hp_0008898_medgen_c4021626 Lethal skeletal dysplasia Human_Phenotype_Ontology:HP:0005716,Human_Phenotype_Ontology:HP:0008898,MedGen:C4021626 1 1 1.0000 condition_record_support_limited 20 0 1 Lethal_skeletal_dysplasia 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B4GALT7 mondo_mondo_0009511_medgen_c3278404_omim_245600_orphanet_284139 Larsen-like syndrome, B3GAT3 type MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139 1 1 1.0000 condition_record_support_limited 20 0 1 Larsen-like_syndrome,_B3GAT3_type 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B4GALT7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B4GALT3 mondo_mondo_0008297_medgen_c0162532_omim_176200_orphanet_79473 Variegate porphyria MONDO:MONDO:0008297,MedGen:C0162532,OMIM:176200,Orphanet:79473 1 1 1.0000 condition_record_support_limited 20 0 0 Variegate_porphyria 1 low_record_burden_interpretation_limited low_record_burden_gene B4GALT1 mondo_mondo_0957260_medgen_c5830484_omim_620364 Combined low LDL and fibrinogen MONDO:MONDO:0957260,MedGen:C5830484,OMIM:620364 1 1 1.0000 condition_record_support_limited 20 0 0 Combined_low_LDL_and_fibrinogen 3 low_record_burden_interpretation_limited low_record_burden_gene B4GALNT3 susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 . 1 1 1.0000 condition_record_support_limited 20 0 0 Susceptibility_to_severe_COVID-19 1 low_record_burden_interpretation_limited low_record_burden_gene B4GALNT1 human_phenotype_ontology_hp_0002313_human_phenotype_ontology_hp_0007191_medgen_c0037771 Spastic paraparesis Human_Phenotype_Ontology:HP:0002313,Human_Phenotype_Ontology:HP:0007191,MedGen:C0037771 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_paraparesis 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B3GNT6 mondo_mondo_0957430_medgen_c0036346_orphanet_641496 Childhood-onset schizophrenia MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 1.0000 condition_record_support_limited 20 0 0 Childhood-onset_schizophrenia 1 low_record_burden_interpretation_limited low_record_burden_gene B3GNT4 mondo_mondo_0013593_medgen_c3279948_omim_614152_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 64 MONDO:MONDO:0013593,MedGen:C3279948,OMIM:614152,Orphanet:90635 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_nonsyndromic_hearing_loss_64 1 low_record_burden_interpretation_limited low_record_burden_gene B3GALT6 human_phenotype_ontology_hp_0002655_human_phenotype_ontology_hp_0002776_human_phenotype_ontology_hp_0005893_mondo_mondo_0016761_medgen_c0038015_orphanet_253 Spondyloepiphyseal dysplasia Human_Phenotype_Ontology:HP:0002655,Human_Phenotype_Ontology:HP:0002776,Human_Phenotype_Ontology:HP:0005893,MONDO:MONDO:0016761,MedGen:C0038015,Orphanet:253 1 1 1.0000 condition_record_support_limited 20 0 0 Spondyloepiphyseal_dysplasia 36 single_exon_hotspot_opportunity local_compact_architecture B3GALT6 mondo_mondo_0100586_medgen_cn379144 B3GALT6-congenital disorder of glycosylation MONDO:MONDO:0100586,MedGen:CN379144 1 1 1.0000 condition_record_support_limited 20 0 1 B3GALT6-congenital_disorder_of_glycosylation 36 single_exon_hotspot_opportunity local_compact_architecture B3GALT1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 1 low_record_burden_interpretation_limited low_record_burden_gene B3GALNT2 mondo_mondo_0018276_medgen_c5679911_orphanet_370953 Muscular dystrophy-dystroglycanopathy MONDO:MONDO:0018276,MedGen:C5679911,Orphanet:370953 1 1 1.0000 condition_record_support_limited 20 0 1 Muscular_dystrophy-dystroglycanopathy 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B3GALNT2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture B2M human_phenotype_ontology_hp_0012539_mondo_mondo_0018908_medgen_c0024305_orphanet_547 Non-Hodgkin lymphoma Human_Phenotype_Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547 1 1 1.0000 condition_record_support_limited 20 0 1 Non-Hodgkin_lymphoma 5 low_record_burden_interpretation_limited low_record_burden_gene B2M mondo_mondo_0971010_medgen_c5935573_omim_620659 Amyloidosis, hereditary systemic 6 MONDO:MONDO:0971010,MedGen:C5935573,OMIM:620659 1 1 1.0000 condition_record_support_limited 20 0 1 Amyloidosis,_hereditary_systemic_6 5 low_record_burden_interpretation_limited low_record_burden_gene AXL mondo_mondo_0016996_medgen_c4509932_orphanet_263665 NK-cell enteropathy MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665 1 1 1.0000 condition_record_support_limited 20 0 0 NK-cell_enteropathy 1 low_record_burden_interpretation_limited low_record_burden_gene AXIN2 human_phenotype_ontology_hp_0000677_human_phenotype_ontology_hp_0000702_medgen_c4082304 Oligodontia Human_Phenotype_Ontology:HP:0000677,Human_Phenotype_Ontology:HP:0000702,MedGen:C4082304 1 1 1.0000 condition_record_support_limited 20 0 1 Oligodontia 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AXIN2 non_syndromic_oligodontia Non-syndromic oligodontia . 1 1 1.0000 condition_record_support_limited 20 0 0 Non-syndromic_oligodontia 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AXIN2 human_phenotype_ontology_hp_0000968_human_phenotype_ontology_hp_0007436_human_phenotype_ontology_hp_0007615_mondo_mondo_0019287_medgen_c0013575_omim_ps305100_orphanet_79373 Ectodermal dysplasia Human_Phenotype_Ontology:HP:0000968,Human_Phenotype_Ontology:HP:0007436,Human_Phenotype_Ontology:HP:0007615,MONDO:MONDO:0019287,MedGen:C0013575,OMIM:PS305100,Orphanet:79373 1 1 1.0000 condition_record_support_limited 20 0 1 Ectodermal_dysplasia 196 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AXIN1 human_phenotype_ontology_hp_0001402_human_phenotype_ontology_hp_0002899_human_phenotype_ontology_hp_0003007_human_phenotype_ontology_hp_0006750_mondo_mondo_0007256_medgen_c2239176_omim_114550_orphanet_88673 Hepatocellular carcinoma Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673 1 1 1.0000 condition_record_support_limited 20 0 0 Hepatocellular_carcinoma 4 low_record_burden_interpretation_limited low_record_burden_gene AXDND1 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 1.0000 condition_record_support_limited 20 0 0 Non-obstructive_azoospermia 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AXDND1 human_phenotype_ontology_hp_0012593_medgen_c0445118 Nephrotic range proteinuria Human_Phenotype_Ontology:HP:0012593,MedGen:C0445118 1 1 1.0000 condition_record_support_limited 20 0 1 Nephrotic_range_proteinuria 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AXDND1 human_phenotype_ontology_hp_0000097_human_phenotype_ontology_hp_0004747_mondo_mondo_0100313_medgen_c0017668 Focal segmental glomerulosclerosis Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668 1 1 1.0000 condition_record_support_limited 20 0 1 Focal_segmental_glomerulosclerosis 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AXDND1 human_phenotype_ontology_hp_0000106_human_phenotype_ontology_hp_0001918_human_phenotype_ontology_hp_0008671_human_phenotype_ontology_hp_0012622_mondo_mondo_0005300_medgen_c1561643 Chronic kidney disease Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643 1 1 1.0000 condition_record_support_limited 20 0 1 Chronic_kidney_disease 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AVP medgen_c4016430 Diabetes insipidus, neurohypophyseal, autosomal recessive MedGen:C4016430 1 1 1.0000 condition_record_support_limited 20 0 0 Diabetes_insipidus,_neurohypophyseal,_autosomal_recessive 34 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AVIL human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 1.0000 condition_record_support_limited 20 0 1 Nephrotic_syndrome 4 low_record_burden_interpretation_limited low_record_burden_gene AUTS2 pierre_robin_like_syndrome Pierre Robin-like syndrome . 1 1 1.0000 condition_record_support_limited 20 0 0 Pierre_Robin-like_syndrome 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AUTS2 medgen_c0000772 Multiple congenital anomalies MedGen:C0000772 1 1 1.0000 condition_record_support_limited 20 0 1 Multiple_congenital_anomalies 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AUTS2 mondo_mondo_0054837_medgen_c4748003_omim_618050 Intellectual disability, autosomal dominant 57 MONDO:MONDO:0054837,MedGen:C4748003,OMIM:618050 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_autosomal_dominant_57 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AUTS2 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_disorder 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AUTS2 human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Corpus callosum, agenesis of Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 1.0000 condition_record_support_limited 20 0 1 Corpus_callosum,_agenesis_of 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AUTS2 mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cerebellar_hypoplasia 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AUTS2 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AUTS2 auts2_related_neurodevelopmental_disorder AUTS2-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 AUTS2-related_neurodevelopmental_disorder 104 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AURKC medgen_c5681167_orphanet_399775 Male infertility with spermatogenesis disorder MedGen:C5681167,Orphanet:399775 1 1 1.0000 condition_record_support_limited 20 0 1 Male_infertility_with_spermatogenesis_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene AURKC human_phenotype_ontology_hp_0025437_medgen_c4476776 Macrozoospermia Human_Phenotype_Ontology:HP:0025437,MedGen:C4476776 1 1 1.0000 condition_record_support_limited 20 0 0 Macrozoospermia 6 low_record_burden_interpretation_limited low_record_burden_gene AURKB mondo_mondo_0016996_medgen_c4509932_orphanet_263665 NK-cell enteropathy MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665 1 1 1.0000 condition_record_support_limited 20 0 0 NK-cell_enteropathy 1 low_record_burden_interpretation_limited low_record_burden_gene AURKA human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 1 low_record_burden_interpretation_limited low_record_burden_gene AUH mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AUH auh_related_disorder AUH-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 AUH-related_disorder 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AUH human_phenotype_ontology_hp_0003535_mondo_mondo_0017359_medgen_c3696376_omim_ps250950_orphanet_289902 3-Methylglutaconic aciduria Human_Phenotype_Ontology:HP:0003535,MONDO:MONDO:0017359,MedGen:C3696376,OMIM:PS250950,Orphanet:289902 1 1 1.0000 condition_record_support_limited 20 0 1 3-Methylglutaconic_aciduria 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATXN7 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene ATXN7 human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 1.0000 condition_record_support_limited 20 0 0 Tip-toe_gait 3 low_record_burden_interpretation_limited low_record_burden_gene ATXN7 mondo_mondo_0016163_medgen_c0752125_omim_164500_orphanet_208508_orphanet_94147 Spinocerebellar ataxia 7 MONDO:MONDO:0016163,MedGen:C0752125,OMIM:164500,Orphanet:208508,Orphanet:94147 1 1 1.0000 condition_record_support_limited 20 0 0 Spinocerebellar_ataxia_7 3 low_record_burden_interpretation_limited low_record_burden_gene ATXN3 mondo_mondo_0007182_medgen_c0024408_omim_109150_orphanet_98757 Azorean disease MONDO:MONDO:0007182,MedGen:C0024408,OMIM:109150,Orphanet:98757 1 1 1.0000 condition_record_support_limited 20 0 0 Azorean_disease 1 low_record_burden_interpretation_limited low_record_burden_gene ATXN2 human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 1.0000 condition_record_support_limited 20 0 0 Tip-toe_gait 5 low_record_burden_interpretation_limited low_record_burden_gene ATXN2 human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Amyotrophic lateral sclerosis Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 1 1 1.0000 condition_record_support_limited 20 0 1 Amyotrophic_lateral_sclerosis 5 low_record_burden_interpretation_limited low_record_burden_gene ATXN10 mondo_mondo_0011330_medgen_c1963674_omim_603516_orphanet_98761 Spinocerebellar ataxia type 10 MONDO:MONDO:0011330,MedGen:C1963674,OMIM:603516,Orphanet:98761 1 1 1.0000 condition_record_support_limited 20 0 0 Spinocerebellar_ataxia_type_10 1 low_record_burden_interpretation_limited low_record_burden_gene ATRX x_linked_atrx_related_disorders X-linked ATRX-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 0 X-linked_ATRX-related_disorders 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATRX human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATRX renier_gabreels_jasper_syndrome Renier-Gabreels-Jasper syndrome MedGen:CN282407 1 1 1.0000 condition_record_support_limited 20 0 1 Renier-Gabreels-Jasper_syndrome 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATRX human_phenotype_ontology_hp_0002361_medgen_c1836842 Psychomotor deterioration Human_Phenotype_Ontology:HP:0002361,MedGen:C1836842 1 1 1.0000 condition_record_support_limited 20 0 1 Psychomotor_deterioration 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATRX human_phenotype_ontology_hp_0001319_human_phenotype_ontology_hp_0008976_medgen_c2267233 Neonatal hypotonia Human_Phenotype_Ontology:HP:0001319,Human_Phenotype_Ontology:HP:0008976,MedGen:C2267233 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_hypotonia 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATRX medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATRX human_phenotype_ontology_hp_0000368_medgen_c1857486 Low-set, posteriorly rotated ears Human_Phenotype_Ontology:HP:0000368,MedGen:C1857486 1 1 1.0000 condition_record_support_limited 20 0 1 Low-set,_posteriorly_rotated_ears 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATRX human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATRX human_phenotype_ontology_hp_0002307_medgen_c0013132 Drooling Human_Phenotype_Ontology:HP:0002307,MedGen:C0013132 1 1 1.0000 condition_record_support_limited 20 0 1 Drooling 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATRX medgen_c0475813 Alpha-thalassemia/intellectual disability syndrome MedGen:C0475813 1 1 1.0000 condition_record_support_limited 20 0 1 Alpha-thalassemia/intellectual_disability_syndrome 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATRX human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Absent speech Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 1.0000 condition_record_support_limited 20 0 1 Absent_speech 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATRX human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 144 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATRIP mondo_mondo_0019737_mesh_d057049_medgen_c2717961_orphanet_93573 Thrombotic microangiopathy MONDO:MONDO:0019737,MeSH:D057049,MedGen:C2717961,Orphanet:93573 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombotic_microangiopathy 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATRIP medgen_c3862275 Systemic lupus erythematosus, susceptibility to MedGen:C3862275 1 1 1.0000 condition_record_support_limited 20 0 1 Systemic_lupus_erythematosus,_susceptibility_to 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATRIP mondo_mondo_0019342_medgen_c0265202_omim_ps210600_orphanet_324761_orphanet_808 Seckel syndrome MONDO:MONDO:0019342,MedGen:C0265202,OMIM:PS210600,Orphanet:324761,Orphanet:808 1 1 1.0000 condition_record_support_limited 20 0 1 Seckel_syndrome 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATRIP human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATRIP mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATRIP mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATRIP mondo_mondo_0007432_medgen_c0751587_omim_ps125310 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy MONDO:MONDO:0007432,MedGen:C0751587,OMIM:PS125310 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATRIP mondo_mondo_0018866_medgen_c0393591_omim_ps225750_orphanet_51 Aicardi Goutieres syndrome MONDO:MONDO:0018866,MedGen:C0393591,OMIM:PS225750,Orphanet:51 1 1 1.0000 condition_record_support_limited 20 0 1 Aicardi_Goutieres_syndrome 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATRIP adult_onset_neurodegenerative_disorder Adult onset neurodegenerative disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 Adult_onset_neurodegenerative_disorder 79 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATR mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer-predisposing_syndrome 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATR mondo_mondo_0007387_medgen_c4551851_omim_122470_orphanet_199 Cornelia de Lange syndrome 1 MONDO:MONDO:0007387,MedGen:C4551851,OMIM:122470,Orphanet:199 1 1 1.0000 condition_record_support_limited 20 0 1 Cornelia_de_Lange_syndrome_1 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATR atr_related_disorder ATR-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ATR-related_disorder 137 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ATPAF2 mondo_mondo_0011421_medgen_c3276276_omim_604273_orphanet_254913 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 MONDO:MONDO:0011421,MedGen:C3276276,OMIM:604273,Orphanet:254913 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_V_(ATP_synthase)_deficiency,_nuclear_type_1 1 low_record_burden_interpretation_limited low_record_burden_gene ATP8B3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene ATP8B1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 131 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP8A2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP8A2 mondo_mondo_0009133_medgen_c0394006_omim_ps224050_orphanet_1766 Dysequilibrium syndrome MONDO:MONDO:0009133,MedGen:C0394006,OMIM:PS224050,Orphanet:1766 1 1 1.0000 condition_record_support_limited 20 0 0 Dysequilibrium_syndrome 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP8A2 atp8a2_related_disorder ATP8A2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ATP8A2-related_disorder 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP8A1 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 1 low_record_burden_interpretation_limited low_record_burden_gene ATP7B human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_ataxia 858 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP7B human_phenotype_ontology_hp_0200032_medgen_c0152457 Kayser-Fleischer ring Human_Phenotype_Ontology:HP:0200032,MedGen:C0152457 1 1 1.0000 condition_record_support_limited 20 0 1 Kayser-Fleischer_ring 858 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP7B mondo_mondo_0010203_medgen_c1848439_omim_277990_orphanet_3080 Intellectual disability, Wolff type MONDO:MONDO:0010203,MedGen:C1848439,OMIM:277990,Orphanet:3080 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability,_Wolff_type 858 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP7B mondo_mondo_0033202_medgen_c4693935_omim_618013 Hearing loss, autosomal recessive 109 MONDO:MONDO:0033202,MedGen:C4693935,OMIM:618013 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive_109 858 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP7B human_phenotype_ontology_hp_0002378_medgen_c0239842 Hand tremor Human_Phenotype_Ontology:HP:0002378,MedGen:C0239842 1 1 1.0000 condition_record_support_limited 20 0 1 Hand_tremor 858 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP7B human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 1 Epileptic_encephalopathy 858 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP7B mondo_mondo_0020632_medgen_c4693934_omim_618012 Developmental and epileptic encephalopathy 93 MONDO:MONDO:0020632,MedGen:C4693934,OMIM:618012 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy_93 858 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP7B mondo_mondo_0957530_medgen_c5830615_omim_620442 Breast-ovarian cancer, familial, susceptibility to, 5 MONDO:MONDO:0957530,MedGen:C5830615,OMIM:620442 1 1 1.0000 condition_record_support_limited 20 0 1 Breast-ovarian_cancer,_familial,_susceptibility_to,_5 858 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP7B human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 858 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP7A medgen_c4016447 Menkes disease, copper-replacement responsive MedGen:C4016447 1 1 1.0000 condition_record_support_limited 20 0 1 Menkes_disease,_copper-replacement_responsive 254 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP7A mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease 254 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V1E1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene ATP6V1E1 human_phenotype_ontology_hp_0000973_mondo_mondo_0016175_medgen_c0010495_orphanet_209 Cutis laxa Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209 1 1 1.0000 condition_record_support_limited 20 0 1 Cutis_laxa 1 low_record_burden_interpretation_limited low_record_burden_gene ATP6V1E1 mondo_mondo_0027462_medgen_c4479387_omim_617402 Autosomal recessive cutis laxa type 2C MONDO:MONDO:0027462,MedGen:C4479387,OMIM:617402 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_cutis_laxa_type_2C 1 low_record_burden_interpretation_limited low_record_burden_gene ATP6V1C2 human_phenotype_ontology_hp_0008341_mondo_mondo_0015827_medgen_c1704380_orphanet_18 Distal renal tubular acidosis Human_Phenotype_Ontology:HP:0008341,MONDO:MONDO:0015827,MedGen:C1704380,Orphanet:18 1 1 1.0000 condition_record_support_limited 20 0 0 Distal_renal_tubular_acidosis 1 low_record_burden_interpretation_limited low_record_burden_gene ATP6V1C1 mondo_mondo_0009079_medgen_c0795934_omim_220500_orphanet_3231_orphanet_79500 DOORS syndrome MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500,Orphanet:3231,Orphanet:79500 1 1 1.0000 condition_record_support_limited 20 0 0 DOORS_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene ATP6V1B2 zimmermann_laband_syndrome_with_epileptic_encephalopathy Zimmermann-Laband syndrome with epileptic encephalopathy . 1 1 1.0000 condition_record_support_limited 20 0 0 Zimmermann-Laband_syndrome_with_epileptic_encephalopathy 18 low_record_burden_interpretation_limited low_record_burden_gene ATP6V1B2 mondo_mondo_0024526_medgen_c4551773_omim_135500_orphanet_3473 Zimmermann-Laband syndrome 1 MONDO:MONDO:0024526,MedGen:C4551773,OMIM:135500,Orphanet:3473 1 1 1.0000 condition_record_support_limited 20 0 1 Zimmermann-Laband_syndrome_1 18 low_record_burden_interpretation_limited low_record_burden_gene ATP6V1B2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 18 low_record_burden_interpretation_limited low_record_burden_gene ATP6V1B2 atp6v1b2_related_neurodevelopmental_disorders ATP6V1B2 related neurodevelopmental disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 ATP6V1B2_related_neurodevelopmental_disorders 18 low_record_burden_interpretation_limited low_record_burden_gene ATP6V1B1 human_phenotype_ontology_hp_0000119_human_phenotype_ontology_hp_0008658_human_phenotype_ontology_hp_0008688_human_phenotype_ontology_hp_0008704_human_phenotype_ontology_hp_0008713_mondo_mondo_0019356_medgen_c0042063_orphanet_83001 Urogenital tract malformation Human_Phenotype_Ontology:HP:0000119,Human_Phenotype_Ontology:HP:0008658,Human_Phenotype_Ontology:HP:0008688,Human_Phenotype_Ontology:HP:0008704,Human_Phenotype_Ontology:HP:0008713,MONDO:MONDO:0019356,MedGen:C0042063,Orphanet:83001 1 1 1.0000 condition_record_support_limited 20 0 0 Urogenital_tract_malformation 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V1B1 mondo_mondo_0011268_medgen_c5399980_omim_602722 Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss MONDO:MONDO:0011268,MedGen:C5399980,OMIM:602722 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_tubular_acidosis,_distal,_3,_with_or_without_sensorineural_hearing_loss 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V1B1 human_phenotype_ontology_hp_0001947_mondo_mondo_0001909_medgen_c0001126 Renal tubular acidosis Human_Phenotype_Ontology:HP:0001947,MONDO:MONDO:0001909,MedGen:C0001126 1 1 1.0000 condition_record_support_limited 20 0 1 Renal_tubular_acidosis 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V1B1 medgen_c5680250_orphanet_96210 Rare genetic deafness MedGen:C5680250,Orphanet:96210 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_deafness 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V1B1 mondo_mondo_0008266_medgen_c4282400_omim_174200 Polydactyly, postaxial, type A1 MONDO:MONDO:0008266,MedGen:C4282400,OMIM:174200 1 1 1.0000 condition_record_support_limited 20 0 1 Polydactyly,_postaxial,_type_A1 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V1B1 human_phenotype_ontology_hp_0000102_human_phenotype_ontology_hp_0000787_mondo_mondo_0008171_medgen_c0392525 Nephrolithiasis Human_Phenotype_Ontology:HP:0000102,Human_Phenotype_Ontology:HP:0000787,MONDO:MONDO:0008171,MedGen:C0392525 1 1 1.0000 condition_record_support_limited 20 0 1 Nephrolithiasis 127 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V1A human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 0 Seizure 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V1A human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V1A human_phenotype_ontology_hp_0001298_medgen_c0085584 Encephalopathy Human_Phenotype_Ontology:HP:0001298,MedGen:C0085584 1 1 1.0000 condition_record_support_limited 20 0 1 Encephalopathy 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V1A cerebral_visual_impairment_and_intellectual_disability Cerebral visual impairment and intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_visual_impairment_and_intellectual_disability 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V0C mondo_mondo_0020072_medgen_c5681526_orphanet_98259 Childhood-onset epilepsy syndrome MONDO:MONDO:0020072,MedGen:C5681526,Orphanet:98259 1 1 1.0000 condition_record_support_limited 20 0 0 Childhood-onset_epilepsy_syndrome 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V0A4 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorineural_hearing_loss_disorder 85 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6V0A2 mondo_mondo_0009054_medgen_c5679922_orphanet_357074 Autosomal recessive cutis laxa type 2, classic type MONDO:MONDO:0009054,MedGen:C5679922,Orphanet:357074 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_cutis_laxa_type_2,_classic_type 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP6AP2 mondo_mondo_0010482_medgen_c3806722_omim_300911_orphanet_363654 X-linked parkinsonism-spasticity syndrome MONDO:MONDO:0010482,MedGen:C3806722,OMIM:300911,Orphanet:363654 1 1 1.0000 condition_record_support_limited 20 0 0 X-linked_parkinsonism-spasticity_syndrome 6 low_record_burden_interpretation_limited low_record_burden_gene ATP6AP2 mondo_mondo_0026765_medgen_c5393313_omim_301045 Congenital disorder of glycosylation, type IIr MONDO:MONDO:0026765,MedGen:C5393313,OMIM:301045 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_disorder_of_glycosylation,_type_IIr 6 low_record_burden_interpretation_limited low_record_burden_gene ATP6AP1 mondo_mondo_0019181_medgen_c3501611_omim_ps309530_orphanet_777 Non-syndromic X-linked intellectual disability MONDO:MONDO:0019181,MedGen:C3501611,OMIM:PS309530,Orphanet:777 1 1 1.0000 condition_record_support_limited 20 0 0 Non-syndromic_X-linked_intellectual_disability 13 low_record_burden_interpretation_limited low_record_burden_gene ATP5PO mondo_mondo_0009723_medgen_c2931891_omim_256000_orphanet_506 Leigh syndrome MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506 1 1 1.0000 condition_record_support_limited 20 0 1 Leigh_syndrome 3 low_record_burden_interpretation_limited low_record_burden_gene ATP5PO atp5po_related_disorder ATP5PO-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ATP5PO-related_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene ATP5ME condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene ATP5ME mondo_mondo_0008746_medgen_c0268495_omim_203200_orphanet_79432 Tyrosinase-positive oculocutaneous albinism MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432 1 1 1.0000 condition_record_support_limited 20 0 1 Tyrosinase-positive_oculocutaneous_albinism 3 low_record_burden_interpretation_limited low_record_burden_gene ATP5ME human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 1 Retinitis_pigmentosa 3 low_record_burden_interpretation_limited low_record_burden_gene ATP5ME human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 3 low_record_burden_interpretation_limited low_record_burden_gene ATP5MC3 atp5g3_associated_disorder ATP5G3-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ATP5G3-associated_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene ATP5F1E mondo_mondo_0013547_medgen_c3279708_omim_614053_orphanet_254913 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MONDO:MONDO:0013547,MedGen:C3279708,OMIM:614053,Orphanet:254913 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_complex_V_(ATP_synthase)_deficiency,_nuclear_type_3 1 low_record_burden_interpretation_limited low_record_burden_gene ATP5F1D mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_disease 2 low_record_burden_interpretation_limited low_record_burden_gene ATP5F1D human_phenotype_ontology_hp_0011925_medgen_c4023125 Decreased activity of mitochondrial ATP synthase complex Human_Phenotype_Ontology:HP:0011925,MedGen:C4023125 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_activity_of_mitochondrial_ATP_synthase_complex 2 low_record_burden_interpretation_limited low_record_burden_gene ATP5F1B mondo_mondo_0859302_medgen_c5774237_omim_620085 Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 MONDO:MONDO:0859302,MedGen:C5774237,OMIM:620085 1 1 1.0000 condition_record_support_limited 20 0 1 Hypermetabolism_due_to_uncoupled_mitochondrial_oxidative_phosphorylation_2 1 low_record_burden_interpretation_limited low_record_burden_gene ATP5F1B hypermetabolism_due_to_defect_in_mitochondrial_coupling Hypermetabolism due to Defect in Mitochondrial Coupling . 1 1 1.0000 condition_record_support_limited 20 0 1 Hypermetabolism_due_to_Defect_in_Mitochondrial_Coupling 1 low_record_burden_interpretation_limited low_record_burden_gene ATP5F1A human_phenotype_ontology_hp_0003128_human_phenotype_ontology_hp_0003255_human_phenotype_ontology_hp_0005960_mondo_mondo_0006040_medgen_c0001125 Lactic acidosis Human_Phenotype_Ontology:HP:0003128,Human_Phenotype_Ontology:HP:0003255,Human_Phenotype_Ontology:HP:0005960,MONDO:MONDO:0006040,MedGen:C0001125 1 1 1.0000 condition_record_support_limited 20 0 1 Lactic_acidosis 5 low_record_burden_interpretation_limited low_record_burden_gene ATP5F1A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 5 low_record_burden_interpretation_limited low_record_burden_gene ATP2B3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene ATP2B3 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia 9 low_record_burden_interpretation_limited low_record_burden_gene ATP2B3 human_phenotype_ontology_hp_0200136_medgen_c0267071 Oral-pharyngeal dysphagia Human_Phenotype_Ontology:HP:0200136,MedGen:C0267071 1 1 1.0000 condition_record_support_limited 20 0 1 Oral-pharyngeal_dysphagia 9 low_record_burden_interpretation_limited low_record_burden_gene ATP2B3 human_phenotype_ontology_hp_0001299_human_phenotype_ontology_hp_0003202_human_phenotype_ontology_hp_0003545_human_phenotype_ontology_hp_0003671_human_phenotype_ontology_hp_0003702_human_phenotype_ontology_hp_0003746_human_phenotype_ontology_hp_0006995_human_phenotype_ontology_hp_0007171_human_phenotype_ontology_hp_0007356_human_phenotype_ontology_hp_0009010_human_phenotype_ontology_hp_0009048_human_phenotype_ontology_hp_0100868_mondo_mondo_0004323_medgen_c0541794 Muscular atrophy Human_Phenotype_Ontology:HP:0001299,Human_Phenotype_Ontology:HP:0003202,Human_Phenotype_Ontology:HP:0003545,Human_Phenotype_Ontology:HP:0003671,Human_Phenotype_Ontology:HP:0003702,Human_Phenotype_Ontology:HP:0003746,Human_Phenotype_Ontology:HP:0006995,Human_Phenotype_Ontology:HP:0007171,Human_Phenotype_Ontology:HP:0007356,Human_Phenotype_Ontology:HP:0009010,Human_Phenotype_Ontology:HP:0009048,Human_Phenotype_Ontology:HP:0100868,MONDO:MONDO:0004323,MedGen:C0541794 1 1 1.0000 condition_record_support_limited 20 0 1 Muscular_atrophy 9 low_record_burden_interpretation_limited low_record_burden_gene ATP2B3 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 9 low_record_burden_interpretation_limited low_record_burden_gene ATP2B3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 9 low_record_burden_interpretation_limited low_record_burden_gene ATP2B3 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 9 low_record_burden_interpretation_limited low_record_burden_gene ATP2B3 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 9 low_record_burden_interpretation_limited low_record_burden_gene ATP2B3 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_akinesia_deformation_sequence_1 9 low_record_burden_interpretation_limited low_record_burden_gene ATP2B3 human_phenotype_ontology_hp_0000670_human_phenotype_ontology_hp_0006295_human_phenotype_ontology_hp_0006306_mondo_mondo_0005276_medgen_c0011334 Carious teeth Human_Phenotype_Ontology:HP:0000670,Human_Phenotype_Ontology:HP:0006295,Human_Phenotype_Ontology:HP:0006306,MONDO:MONDO:0005276,MedGen:C0011334 1 1 1.0000 condition_record_support_limited 20 0 1 Carious_teeth 9 low_record_burden_interpretation_limited low_record_burden_gene ATP2B3 human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis_multiplex_congenita 9 low_record_burden_interpretation_limited low_record_burden_gene ATP2B3 human_phenotype_ontology_hp_0002538_medgen_c4025701 Abnormal cerebral cortex morphology Human_Phenotype_Ontology:HP:0002538,MedGen:C4025701 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cerebral_cortex_morphology 9 low_record_burden_interpretation_limited low_record_burden_gene ATP2B2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2B2 mondo_mondo_0019587_medgen_c5779548_omim_ps124900_orphanet_90635 Autosomal dominant nonsyndromic hearing loss MONDO:MONDO:0019587,MedGen:C5779548,OMIM:PS124900,Orphanet:90635 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_nonsyndromic_hearing_loss 48 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2B1 mondo_mondo_0014486_medgen_c4015167_omim_616083_orphanet_436151_orphanet_694304 Intellectual disability, autosomal dominant 30 MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083,Orphanet:436151,Orphanet:694304 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability,_autosomal_dominant_30 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2B1 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 0 Autism 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP2B1 atp2b1_related_disorder ATP2B1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ATP2B1-related_disorder 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Ventriculomegaly Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 1 1 1.0000 condition_record_support_limited 20 0 1 Ventriculomegaly 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 mondo_mondo_0018614_medgen_c5680057_orphanet_442835 Undetermined early-onset epileptic encephalopathy MONDO:MONDO:0018614,MedGen:C5680057,Orphanet:442835 1 1 1.0000 condition_record_support_limited 20 0 0 Undetermined_early-onset_epileptic_encephalopathy 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 human_phenotype_ontology_hp_0002273_human_phenotype_ontology_hp_0002338_medgen_c0270790 Tetraparesis Human_Phenotype_Ontology:HP:0002273,Human_Phenotype_Ontology:HP:0002338,MedGen:C0270790 1 1 1.0000 condition_record_support_limited 20 0 1 Tetraparesis 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 mondo_mondo_0007365_medgen_c3149074_omim_121200_orphanet_1949 Seizures, benign familial neonatal, 1 MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200,Orphanet:1949 1 1 1.0000 condition_record_support_limited 20 0 0 Seizures,_benign_familial_neonatal,_1 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 juvenile_onset_psychosis Juvenile onset psychosis . 1 1 1.0000 condition_record_support_limited 20 0 1 Juvenile_onset_psychosis 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 mondo_mondo_0100309_medgen_c0004138_orphanet_183518 Hereditary ataxia MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_ataxia 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 human_phenotype_ontology_hp_0200134_medgen_c0543888 Epileptic encephalopathy Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888 1 1 1.0000 condition_record_support_limited 20 0 0 Epileptic_encephalopathy 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 human_phenotype_ontology_hp_0000286_human_phenotype_ontology_hp_0000624_human_phenotype_ontology_hp_0007930_medgen_c0678230_omim_131500 Epicanthus Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500 1 1 1.0000 condition_record_support_limited 20 0 1 Epicanthus 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 human_phenotype_ontology_hp_0100660_medgen_c0013384 Dyskinesia Human_Phenotype_Ontology:HP:0100660,MedGen:C0013384 1 1 1.0000 condition_record_support_limited 20 0 1 Dyskinesia 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 human_phenotype_ontology_hp_0000425_human_phenotype_ontology_hp_0000428_human_phenotype_ontology_hp_0000439_human_phenotype_ontology_hp_0000459_human_phenotype_ontology_hp_0004413_human_phenotype_ontology_hp_0004505_human_phenotype_ontology_hp_0004506_human_phenotype_ontology_hp_0004666_human_phenotype_ontology_hp_0005119_human_phenotype_ontology_hp_0005280_human_phenotype_ontology_hp_0005284_medgen_c1836542 Depressed nasal bridge Human_Phenotype_Ontology:HP:0000425,Human_Phenotype_Ontology:HP:0000428,Human_Phenotype_Ontology:HP:0000439,Human_Phenotype_Ontology:HP:0000459,Human_Phenotype_Ontology:HP:0004413,Human_Phenotype_Ontology:HP:0004505,Human_Phenotype_Ontology:HP:0004506,Human_Phenotype_Ontology:HP:0004666,Human_Phenotype_Ontology:HP:0005119,Human_Phenotype_Ontology:HP:0005280,Human_Phenotype_Ontology:HP:0005284,MedGen:C1836542 1 1 1.0000 condition_record_support_limited 20 0 1 Depressed_nasal_bridge 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 human_phenotype_ontology_hp_0002104_human_phenotype_ontology_hp_0005936_human_phenotype_ontology_hp_0005958_medgen_c0003578 Apnea Human_Phenotype_Ontology:HP:0002104,Human_Phenotype_Ontology:HP:0005936,Human_Phenotype_Ontology:HP:0005958,MedGen:C0003578 1 1 1.0000 condition_record_support_limited 20 0 1 Apnea 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A3 human_phenotype_ontology_hp_0000363_medgen_c4021808 Abnormal earlobe morphology Human_Phenotype_Ontology:HP:0000363,MedGen:C4021808 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_earlobe_morphology 171 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A2 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia 134 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A2 medgen_c1865323 Migraine, familial basilar MedGen:C1865323 1 1 1.0000 condition_record_support_limited 20 0 1 Migraine,_familial_basilar 134 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A2 mondo_mondo_0100539_medgen_cn377181 Hemiplegic migraine-developmental and epileptic encephalopathy spectrum MONDO:MONDO:0100539,MedGen:CN377181 1 1 1.0000 condition_record_support_limited 20 0 0 Hemiplegic_migraine-developmental_and_epileptic_encephalopathy_spectrum 134 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A2 human_phenotype_ontology_hp_0002301_mondo_mondo_0001170_medgen_c0018991 Hemiplegia Human_Phenotype_Ontology:HP:0002301,MONDO:MONDO:0001170,MedGen:C0018991 1 1 1.0000 condition_record_support_limited 20 0 0 Hemiplegia 134 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A2 mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy 134 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A2 mondo_mondo_0016241_medgen_c0338488_omim_ps104290_orphanet_2131 Alternating hemiplegia of childhood MONDO:MONDO:0016241,MedGen:C0338488,OMIM:PS104290,Orphanet:2131 1 1 1.0000 condition_record_support_limited 20 0 1 Alternating_hemiplegia_of_childhood 134 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A1 marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 1 1 1.0000 condition_record_support_limited 20 0 0 Marfanoid_habitus_and_intellectual_disability 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP1A1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP13A2 atp13a2_related_disorder ATP13A2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ATP13A2-related_disorder 90 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATP11A mondo_mondo_0859242_medgen_c5676974_omim_619851 Leukodystrophy, hypomyelinating, 24 MONDO:MONDO:0859242,MedGen:C5676974,OMIM:619851 1 1 1.0000 condition_record_support_limited 20 0 0 Leukodystrophy,_hypomyelinating,_24 6 low_record_burden_interpretation_limited low_record_burden_gene ATP11A mondo_mondo_0013632_medgen_c3887930_omim_614211_orphanet_90635 Autosomal dominant nonsyndromic hearing loss 33 MONDO:MONDO:0013632,MedGen:C3887930,OMIM:614211,Orphanet:90635 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_nonsyndromic_hearing_loss_33 6 low_record_burden_interpretation_limited low_record_burden_gene ATP11A mondo_mondo_0957279_medgen_c5830542_omim_620384 Auditory neuropathy, autosomal dominant 2 MONDO:MONDO:0957279,MedGen:C5830542,OMIM:620384 1 1 1.0000 condition_record_support_limited 20 0 0 Auditory_neuropathy,_autosomal_dominant_2 6 low_record_burden_interpretation_limited low_record_burden_gene ATOH7 human_phenotype_ontology_hp_0000609_human_phenotype_ontology_hp_0007273_medgen_c0338502 Optic nerve hypoplasia Human_Phenotype_Ontology:HP:0000609,Human_Phenotype_Ontology:HP:0007273,MedGen:C0338502 1 1 1.0000 condition_record_support_limited 20 0 1 Optic_nerve_hypoplasia 5 low_record_burden_interpretation_limited low_record_burden_gene ATOH7 human_phenotype_ontology_hp_0007750_mondo_mondo_0044203_medgen_c2673946_omim_ps136520 Foveal hypoplasia Human_Phenotype_Ontology:HP:0007750,MONDO:MONDO:0044203,MedGen:C2673946,OMIM:PS136520 1 1 1.0000 condition_record_support_limited 20 0 1 Foveal_hypoplasia 5 low_record_burden_interpretation_limited low_record_burden_gene ATOH1 mondo_mondo_0859528_medgen_c5830357_omim_620284 Hearing loss, autosomal dominant 89 MONDO:MONDO:0859528,MedGen:C5830357,OMIM:620284 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_dominant_89 3 low_record_burden_interpretation_limited low_record_burden_gene ATOH1 dominant_progressive_sensorineural_hearing_loss Dominant progressive sensorineural hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Dominant_progressive_sensorineural_hearing_loss 3 low_record_burden_interpretation_limited low_record_burden_gene ATN1 mondo_mondo_0007435_medgen_c0751781_omim_125370_orphanet_101 Dentatorubral-pallidoluysian atrophy MONDO:MONDO:0007435,MedGen:C0751781,OMIM:125370,Orphanet:101 1 1 1.0000 condition_record_support_limited 20 0 1 Dentatorubral-pallidoluysian_atrophy 10 low_record_burden_interpretation_limited low_record_burden_gene ATM mondo_mondo_0006003_medgen_cn277893 Uterine corpus cancer MONDO:MONDO:0006003,MedGen:CN277893 1 1 1.0000 condition_record_support_limited 20 0 1 Uterine_corpus_cancer 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM medgen_c3469524 Prostate cancer susceptibility MedGen:C3469524 1 1 1.0000 condition_record_support_limited 20 0 1 Prostate_cancer_susceptibility 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM human_phenotype_ontology_hp_0012125_mondo_mondo_0008315_medgen_c0376358_orphanet_1331 Prostate cancer Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331 1 1 1.0000 condition_record_support_limited 20 0 1 Prostate_cancer 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM human_phenotype_ontology_hp_0011797_medgen_c1336839_omim_605074_orphanet_47044 Papillary renal cell carcinoma type 1 Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044 1 1 1.0000 condition_record_support_limited 20 0 1 Papillary_renal_cell_carcinoma_type_1 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM pancreatic_cancer_susceptibility_4 Pancreatic Cancer Susceptibility 4 MedGen:CN229775 1 1 1.0000 condition_record_support_limited 20 0 1 Pancreatic_Cancer_Susceptibility_4 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM human_phenotype_ontology_hp_0025318_mondo_mondo_0005140_medgen_c4721610 Ovarian carcinoma Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610 1 1 1.0000 condition_record_support_limited 20 0 1 Ovarian_carcinoma 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM mondo_mondo_0011931_medgen_c2675601_omim_607893 Ovarian cancer, susceptibility to, 1 MONDO:MONDO:0011931,MedGen:C2675601,OMIM:607893 1 1 1.0000 condition_record_support_limited 20 0 1 Ovarian_cancer,_susceptibility_to,_1 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM human_phenotype_ontology_hp_0000628_human_phenotype_ontology_hp_0000657_human_phenotype_ontology_hp_0007764_medgen_c3489733 Oculomotor apraxia Human_Phenotype_Ontology:HP:0000628,Human_Phenotype_Ontology:HP:0000657,Human_Phenotype_Ontology:HP:0007764,MedGen:C3489733 1 1 1.0000 condition_record_support_limited 20 0 1 Oculomotor_apraxia 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM nice_approved_parp_inhibitor_treatment NICE approved PARP inhibitor treatment . 1 1 1.0000 condition_record_support_limited 20 0 1 NICE_approved_PARP_inhibitor_treatment 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM mondo_mondo_0009831_medgen_c0346647 Malignant tumor of pancreas MONDO:MONDO:0009831,MedGen:C0346647 1 1 1.0000 condition_record_support_limited 20 0 1 Malignant_tumor_of_pancreas 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM mondo_mondo_0100342_medgen_c0555198 Malignant glioma MONDO:MONDO:0100342,MedGen:C0555198 1 1 1.0000 condition_record_support_limited 20 0 1 Malignant_glioma 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM mondo_mondo_0007356_medgen_c2936783_omim_120435_orphanet_144 Lynch syndrome 1 MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144 1 1 1.0000 condition_record_support_limited 20 0 0 Lynch_syndrome_1 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM mondo_mondo_0012496_medgen_c1864871_omim_610443_orphanet_96169 Koolen-de Vries syndrome MONDO:MONDO:0012496,MedGen:C1864871,OMIM:610443,Orphanet:96169 1 1 1.0000 condition_record_support_limited 20 0 1 Koolen-de_Vries_syndrome 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM medgen_c1135954 Incidental Discovery MedGen:C1135954 1 1 1.0000 condition_record_support_limited 20 0 1 Incidental_Discovery 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM human_phenotype_ontology_hp_0002721_human_phenotype_ontology_hp_0005362_human_phenotype_ontology_hp_0005371_mondo_mondo_0021094_medgen_c0021051_omim_ps300755 Immunodeficiency Human_Phenotype_Ontology:HP:0002721,Human_Phenotype_Ontology:HP:0005362,Human_Phenotype_Ontology:HP:0005371,MONDO:MONDO:0021094,MedGen:C0021051,OMIM:PS300755 1 1 1.0000 condition_record_support_limited 20 0 1 Immunodeficiency 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM medgen_c1333600 Hereditary cancer MedGen:C1333600 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM mondo_mondo_0018177_mesh_d005909_medgen_c0017636_orphanet_360 Glioblastoma MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360 1 1 1.0000 condition_record_support_limited 20 0 1 Glioblastoma 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM human_phenotype_ontology_hp_0000524_medgen_c0239105 Conjunctival telangiectasia Human_Phenotype_Ontology:HP:0000524,MedGen:C0239105 1 1 1.0000 condition_record_support_limited 20 0 1 Conjunctival_telangiectasia 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM human_phenotype_ontology_hp_0100273_mondo_mondo_0005401_mesh_d003110_medgen_c0009375 Colonic neoplasm Human_Phenotype_Ontology:HP:0100273,MONDO:MONDO:0005401,MeSH:D003110,MedGen:C0009375 1 1 1.0000 condition_record_support_limited 20 0 1 Colonic_neoplasm 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM human_phenotype_ontology_hp_0003003_human_phenotype_ontology_hp_0006718_mondo_mondo_0021063_medgen_c0007102 Colon cancer Human_Phenotype_Ontology:HP:0003003,Human_Phenotype_Ontology:HP:0006718,MONDO:MONDO:0021063,MedGen:C0007102 1 1 1.0000 condition_record_support_limited 20 0 0 Colon_cancer 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM human_phenotype_ontology_hp_0006770_mondo_mondo_0005005_medgen_c0279702_orphanet_319276 Clear cell carcinoma of kidney Human_Phenotype_Ontology:HP:0006770,MONDO:MONDO:0005005,MedGen:C0279702,Orphanet:319276 1 1 1.0000 condition_record_support_limited 20 0 1 Clear_cell_carcinoma_of_kidney 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM mondo_mondo_0010753_medgen_c0262436_omim_314400_orphanet_1864_orphanet_555877_orphanet_75497 Cardiac valvular dysplasia, X-linked MONDO:MONDO:0010753,MedGen:C0262436,OMIM:314400,Orphanet:1864,Orphanet:555877,Orphanet:75497 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiac_valvular_dysplasia,_X-linked 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM medgen_c1861906 Breast cancer, familial male MedGen:C1861906 1 1 1.0000 condition_record_support_limited 20 0 1 Breast_cancer,_familial_male 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM mondo_mondo_0004970_medgen_c0001418 Adenocarcinoma MONDO:MONDO:0004970,MedGen:C0001418 1 1 1.0000 condition_record_support_limited 20 0 1 Adenocarcinoma 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATM atm_related_cancer_predisposition_syndrome ATM-related cancer predisposition syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 ATM-related_cancer_predisposition_syndrome 3732 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control ATL1 human_phenotype_ontology_hp_0001026_medgen_c4025809 Penetrating foot ulcers Human_Phenotype_Ontology:HP:0001026,MedGen:C4025809 1 1 1.0000 condition_record_support_limited 20 0 1 Penetrating_foot_ulcers 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATL1 human_phenotype_ontology_hp_0005010_medgen_c1864975 Osteomyelitis leading to amputation due to slow healing fractures Human_Phenotype_Ontology:HP:0005010,MedGen:C1864975 1 1 1.0000 condition_record_support_limited 20 0 1 Osteomyelitis_leading_to_amputation_due_to_slow_healing_fractures 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATL1 human_phenotype_ontology_hp_0002936_human_phenotype_ontology_hp_0003476_human_phenotype_ontology_hp_0006843_human_phenotype_ontology_hp_0006845_human_phenotype_ontology_hp_0006922_human_phenotype_ontology_hp_0006971_human_phenotype_ontology_hp_0006993_human_phenotype_ontology_hp_0007138_human_phenotype_ontology_hp_0007292_human_phenotype_ontology_hp_0007296_medgen_c1847584 Distal sensory impairment Human_Phenotype_Ontology:HP:0002936,Human_Phenotype_Ontology:HP:0003476,Human_Phenotype_Ontology:HP:0006843,Human_Phenotype_Ontology:HP:0006845,Human_Phenotype_Ontology:HP:0006922,Human_Phenotype_Ontology:HP:0006971,Human_Phenotype_Ontology:HP:0006993,Human_Phenotype_Ontology:HP:0007138,Human_Phenotype_Ontology:HP:0007292,Human_Phenotype_Ontology:HP:0007296,MedGen:C1847584 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_sensory_impairment 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATL1 human_phenotype_ontology_hp_0003485_human_phenotype_ontology_hp_0009035_human_phenotype_ontology_hp_0009053_medgen_c1836450 Distal lower limb muscle weakness Human_Phenotype_Ontology:HP:0003485,Human_Phenotype_Ontology:HP:0009035,Human_Phenotype_Ontology:HP:0009053,MedGen:C1836450 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_lower_limb_muscle_weakness 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATL1 mondo_mondo_0015626_medgen_c0007959_omim_ps118220_orphanet_166 Charcot-Marie-Tooth disease MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166 1 1 1.0000 condition_record_support_limited 20 0 1 Charcot-Marie-Tooth_disease 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATL1 human_phenotype_ontology_hp_0100030_medgen_c4022385 Accessory ectopic thyroid tissue Human_Phenotype_Ontology:HP:0100030,MedGen:C4022385 1 1 1.0000 condition_record_support_limited 20 0 1 Accessory_ectopic_thyroid_tissue 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATL1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATL1 atl1_related_spastic_paraplegia_recessive ATL1-related spastic paraplegia, recessive . 1 1 1.0000 condition_record_support_limited 20 0 1 ATL1-related_spastic_paraplegia,_recessive 92 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATIC human_phenotype_ontology_hp_0000100_human_phenotype_ontology_hp_0000801_human_phenotype_ontology_hp_0004718_human_phenotype_ontology_hp_0008638_human_phenotype_ontology_hp_0008727_mondo_mondo_0005377_medgen_c0027726 Nephrotic syndrome Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726 1 1 1.0000 condition_record_support_limited 20 0 0 Nephrotic_syndrome 8 low_record_burden_interpretation_limited low_record_burden_gene ATIC mondo_mondo_0011165_medgen_c1866075_omim_601894_orphanet_84090 Glomerulopathy with fibronectin deposits 2 MONDO:MONDO:0011165,MedGen:C1866075,OMIM:601894,Orphanet:84090 1 1 1.0000 condition_record_support_limited 20 0 0 Glomerulopathy_with_fibronectin_deposits_2 8 low_record_burden_interpretation_limited low_record_burden_gene ATG9B mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 1 low_record_burden_interpretation_limited low_record_burden_gene ATG4D condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 7 low_record_burden_interpretation_limited low_record_burden_gene ATG4D asher ASHER MedGen:CN300930 1 1 1.0000 condition_record_support_limited 20 0 0 ASHER 7 low_record_burden_interpretation_limited low_record_burden_gene ATF6 human_phenotype_ontology_hp_0007638_human_phenotype_ontology_hp_0007754_human_phenotype_ontology_hp_0007798_human_phenotype_ontology_hp_0007914_human_phenotype_ontology_hp_0007919_human_phenotype_ontology_hp_0007999_medgen_c0730292 Macular dystrophy Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292 1 1 1.0000 condition_record_support_limited 20 0 0 Macular_dystrophy 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATF6 atf6_related_disorder ATF6-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ATF6-related_disorder 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATAD3A mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cerebellar_hypoplasia 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATAD3A atad3a_related_mitochondrial_disorders ATAD3A-related mitochondrial disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 ATAD3A-related_mitochondrial_disorders 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ATAD3A atad3a_deficiency ATAD3A deficiency . 1 1 1.0000 condition_record_support_limited 20 0 0 ATAD3A_deficiency 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL3 intellectual_deficiency intellectual deficiency MedGen:CN228659 1 1 1.0000 condition_record_support_limited 20 0 1 intellectual_deficiency 234 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASXL3 mondo_mondo_0000508_medgen_c5680525_orphanet_183763 Syndromic intellectual disability MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763 1 1 1.0000 condition_record_support_limited 20 0 1 Syndromic_intellectual_disability 234 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASXL3 human_phenotype_ontology_hp_0002360_medgen_c0037317 Sleep disturbance Human_Phenotype_Ontology:HP:0002360,MedGen:C0037317 1 1 1.0000 condition_record_support_limited 20 0 1 Sleep_disturbance 234 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASXL3 medgen_c5681780_orphanet_102369 Rare syndromic intellectual disability MedGen:C5681780,Orphanet:102369 1 1 1.0000 condition_record_support_limited 20 0 0 Rare_syndromic_intellectual_disability 234 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASXL3 marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability MedGen:CN263130 1 1 1.0000 condition_record_support_limited 20 0 0 Marfanoid_habitus_and_intellectual_disability 234 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASXL3 language_retardation Language retardation MedGen:CN239860 1 1 1.0000 condition_record_support_limited 20 0 1 Language_retardation 234 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASXL3 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_hypotonia 234 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASXL3 human_phenotype_ontology_hp_0011471_medgen_c4023342 Gastrostomy tube feeding in infancy Human_Phenotype_Ontology:HP:0011471,MedGen:C4023342 1 1 1.0000 condition_record_support_limited 20 0 1 Gastrostomy_tube_feeding_in_infancy 234 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASXL3 human_phenotype_ontology_hp_0040195_medgen_c0424688 Decreased head circumference Human_Phenotype_Ontology:HP:0040195,MedGen:C0424688 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_head_circumference 234 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASXL3 human_phenotype_ontology_hp_0011923_medgen_c2677650 Decreased activity of mitochondrial complex I Human_Phenotype_Ontology:HP:0011923,MedGen:C2677650 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_activity_of_mitochondrial_complex_I 234 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASXL3 human_phenotype_ontology_hp_0000708_human_phenotype_ontology_hp_0000715_human_phenotype_ontology_hp_0002368_human_phenotype_ontology_hp_0002456_medgen_c0004941 Atypical behavior Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941 1 1 1.0000 condition_record_support_limited 20 0 1 Atypical_behavior 234 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASXL3 human_phenotype_ontology_hp_0001344_human_phenotype_ontology_hp_0001617_human_phenotype_ontology_hp_0006798_medgen_c1854882 Absent speech Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882 1 1 1.0000 condition_record_support_limited 20 0 1 Absent_speech 234 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASXL2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL2 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 dystrophia dystrophia . 1 1 1.0000 condition_record_support_limited 20 0 1 dystrophia 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 human_phenotype_ontology_hp_0001422_human_phenotype_ontology_hp_0001518_human_phenotype_ontology_hp_0008849_human_phenotype_ontology_hp_0008919_human_phenotype_ontology_hp_0008927_medgen_c0235991 Small for gestational age Human_Phenotype_Ontology:HP:0001422,Human_Phenotype_Ontology:HP:0001518,Human_Phenotype_Ontology:HP:0008849,Human_Phenotype_Ontology:HP:0008919,Human_Phenotype_Ontology:HP:0008927,MedGen:C0235991 1 1 1.0000 condition_record_support_limited 20 0 1 Small_for_gestational_age 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 human_phenotype_ontology_hp_0007196_human_phenotype_ontology_hp_0010864_medgen_c0036857 Severe intellectual disability Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_intellectual_disability 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 human_phenotype_ontology_hp_0005487_human_phenotype_ontology_hp_0005488_human_phenotype_ontology_hp_0005751_medgen_c1857949 Prominent metopic ridge Human_Phenotype_Ontology:HP:0005487,Human_Phenotype_Ontology:HP:0005488,Human_Phenotype_Ontology:HP:0005751,MedGen:C1857949 1 1 1.0000 condition_record_support_limited 20 0 1 Prominent_metopic_ridge 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_abnormality 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 human_phenotype_ontology_hp_0002863_human_phenotype_ontology_hp_0004832_human_phenotype_ontology_hp_0006730_medgen_c0026985 Myelodysplasia Human_Phenotype_Ontology:HP:0002863,Human_Phenotype_Ontology:HP:0004832,Human_Phenotype_Ontology:HP:0006730,MedGen:C0026985 1 1 1.0000 condition_record_support_limited 20 0 0 Myelodysplasia 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 0 Microcephaly 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 human_phenotype_ontology_hp_0012209_mondo_mondo_0011908_medgen_c0349639_omim_607785_orphanet_86834 Juvenile myelomonocytic leukemia Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834 1 1 1.0000 condition_record_support_limited 20 0 1 Juvenile_myelomonocytic_leukemia 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 human_phenotype_ontology_hp_0000998_mondo_mondo_0019280_medgen_c0020555_orphanet_79365 Hypertrichosis Human_Phenotype_Ontology:HP:0000998,MONDO:MONDO:0019280,MedGen:C0020555,Orphanet:79365 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrichosis 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 human_phenotype_ontology_hp_0001076_medgen_c1854408 Glabellar hemangioma Human_Phenotype_Ontology:HP:0001076,MedGen:C1854408 1 1 1.0000 condition_record_support_limited 20 0 1 Glabellar_hemangioma 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 human_phenotype_ontology_hp_0011968_medgen_c0232466 Feeding difficulties Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466 1 1 1.0000 condition_record_support_limited 20 0 1 Feeding_difficulties 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 medgen_c0424605 Developmental delay MedGen:C0424605 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_delay 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 human_phenotype_ontology_hp_0002194_human_phenotype_ontology_hp_0006905_human_phenotype_ontology_hp_0007046_human_phenotype_ontology_hp_0008973_medgen_c1837658 Delayed gross motor development Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_gross_motor_development 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 human_phenotype_ontology_hp_0000957_human_phenotype_ontology_hp_0005601_human_phenotype_ontology_hp_0007454_medgen_c0221263 Cafe-au-lait spot Human_Phenotype_Ontology:HP:0000957,Human_Phenotype_Ontology:HP:0005601,Human_Phenotype_Ontology:HP:0007454,MedGen:C0221263 1 1 1.0000 condition_record_support_limited 20 0 1 Cafe-au-lait_spot 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 mondo_mondo_0004653_medgen_c1292772_orphanet_98824 Atypical chronic myeloid leukemia, BCR-ABL1 negative MONDO:MONDO:0004653,MedGen:C1292772,Orphanet:98824 1 1 1.0000 condition_record_support_limited 20 0 0 Atypical_chronic_myeloid_leukemia,_BCR-ABL1_negative 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 human_phenotype_ontology_hp_0001273_human_phenotype_ontology_hp_0007323_medgen_c1842581 Abnormal corpus callosum morphology Human_Phenotype_Ontology:HP:0001273,Human_Phenotype_Ontology:HP:0007323,MedGen:C1842581 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_corpus_callosum_morphology 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASXL1 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_morphology 143 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASTN2 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASTN2 human_phenotype_ontology_hp_0003198_human_phenotype_ontology_hp_0003569_human_phenotype_ontology_hp_0003705_human_phenotype_ontology_hp_0003742_human_phenotype_ontology_hp_0003802_mondo_mondo_0005336_mesh_d009135_medgen_c0026848 Myopathy Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848 1 1 1.0000 condition_record_support_limited 20 0 1 Myopathy 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASTN2 human_phenotype_ontology_hp_0006785_human_phenotype_ontology_hp_0009066_mondo_mondo_0016971_medgen_c0686353_orphanet_263 Limb-girdle muscular dystrophy Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263 1 1 1.0000 condition_record_support_limited 20 0 1 Limb-girdle_muscular_dystrophy 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASTN2 human_phenotype_ontology_hp_0002147_human_phenotype_ontology_hp_0002906_human_phenotype_ontology_hp_0003078_human_phenotype_ontology_hp_0003236_human_phenotype_ontology_hp_0003525_human_phenotype_ontology_hp_0003531_human_phenotype_ontology_hp_0008164_medgen_c0241005 Elevated circulating creatine kinase concentration Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MedGen:C0241005 1 1 1.0000 condition_record_support_limited 20 0 0 Elevated_circulating_creatine_kinase_concentration 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASTN2 autosomal_recessive_trim32_related_disorders Autosomal recessive TRIM32-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_TRIM32-related_disorders 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASTN1 condition_not_provided condition not provided MedGen:CN169374 1 1 1.0000 condition_record_support_limited 20 1 0 not_specified 2 low_record_burden_interpretation_limited low_record_burden_gene ASTN1 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 2 low_record_burden_interpretation_limited low_record_burden_gene ASTL mondo_mondo_0030490_medgen_c5562033_omim_619643 Oocyte maturation defect 11 MONDO:MONDO:0030490,MedGen:C5562033,OMIM:619643 1 1 1.0000 condition_record_support_limited 20 0 0 Oocyte_maturation_defect_11 1 low_record_burden_interpretation_limited low_record_burden_gene ASS1 mondo_mondo_0009287_medgen_c2919796_omim_232200_orphanet_364_orphanet_79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type IA MONDO:MONDO:0009287,MedGen:C2919796,OMIM:232200,Orphanet:364,Orphanet:79258 1 1 1.0000 condition_record_support_limited 20 0 1 Glycogen_storage_disease_due_to_glucose-6-phosphatase_deficiency_type_IA 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASS1 mondo_mondo_0011326_medgen_cn295299_omim_603471_orphanet_247585 Citrullinemia, type II, adult-onset MONDO:MONDO:0011326,MedGen:CN295299,OMIM:603471,Orphanet:247585 1 1 1.0000 condition_record_support_limited 20 0 1 Citrullinemia,_type_II,_adult-onset 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASS1 efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 Cardiac arrhythmia EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiac_arrhythmia 226 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASPM human_phenotype_ontology_hp_0001339_human_phenotype_ontology_hp_0002537_mondo_mondo_0018838_mesh_d054082_medgen_c0266463_omim_ps607432_orphanet_48471 Lissencephaly Human_Phenotype_Ontology:HP:0001339,Human_Phenotype_Ontology:HP:0002537,MONDO:MONDO:0018838,MeSH:D054082,MedGen:C0266463,OMIM:PS607432,Orphanet:48471 1 1 1.0000 condition_record_support_limited 20 0 1 Lissencephaly 348 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASPH thoracic_aortic_aneurysm_or_dissection Thoracic aortic aneurysm or dissection . 1 1 1.0000 condition_record_support_limited 20 0 1 Thoracic_aortic_aneurysm_or_dissection 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASPH human_phenotype_ontology_hp_0034733_mondo_mondo_0018493_medgen_c0024591_orphanet_423 Malignant hyperthermia of anesthesia Human_Phenotype_Ontology:HP:0034733,MONDO:MONDO:0018493,MedGen:C0024591,Orphanet:423 1 1 1.0000 condition_record_support_limited 20 0 0 Malignant_hyperthermia_of_anesthesia 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASPH mondo_mondo_0018752_medgen_c5700399_orphanet_466650 Exercise-induced malignant hyperthermia MONDO:MONDO:0018752,MedGen:C5700399,Orphanet:466650 1 1 1.0000 condition_record_support_limited 20 0 0 Exercise-induced_malignant_hyperthermia 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASPA human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 182 compact_adjacent_exon_block_opportunity local_compact_architecture ASPA human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 182 compact_adjacent_exon_block_opportunity local_compact_architecture ASNS mondo_mondo_0030312_medgen_c5543595_omim_619389 Spinocerebellar ataxia, autosomal recessive 29 MONDO:MONDO:0030312,MedGen:C5543595,OMIM:619389 1 1 1.0000 condition_record_support_limited 20 0 1 Spinocerebellar_ataxia,_autosomal_recessive_29 167 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASL mondo_mondo_0012157_medgen_c1837091_omim_608931_orphanet_590 Congenital myasthenic syndrome 4C MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orphanet:590 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_myasthenic_syndrome_4C 236 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASIC5 mondo_mondo_0013729_medgen_c3280674_omim_614391 Pregnancy loss, recurrent, susceptibility to, 3 MONDO:MONDO:0013729,MedGen:C3280674,OMIM:614391 1 1 1.0000 condition_record_support_limited 20 0 0 Pregnancy_loss,_recurrent,_susceptibility_to,_3 1 low_record_burden_interpretation_limited low_record_burden_gene ASIC2 mondo_mondo_0030696_medgen_c5676934_omim_619780 Mitochondrial DNA depletion syndrome 20 (mngie type) MONDO:MONDO:0030696,MedGen:C5676934,OMIM:619780 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_DNA_depletion_syndrome_20_(mngie_type) 2 low_record_burden_interpretation_limited low_record_burden_gene ASIC2 mondo_mondo_0007269_medgen_c5979868_omim_115200_orphanet_300751 Dilated cardiomyopathy 1A MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751 1 1 1.0000 condition_record_support_limited 20 0 0 Dilated_cardiomyopathy_1A 2 low_record_burden_interpretation_limited low_record_burden_gene ASH2L human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene ASH2L human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene ASH1L human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 99 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASH1L human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 99 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASH1L human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 99 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ASCL5 mondo_mondo_0008530_medgen_c1861274 Teeth, odd shapes of MONDO:MONDO:0008530,MedGen:C1861274 1 1 1.0000 condition_record_support_limited 20 0 1 Teeth,_odd_shapes_of 1 low_record_burden_interpretation_limited low_record_burden_gene ASCL5 medgen_c1861275_omim_187000 LOBODONTIA MedGen:C1861275,OMIM:187000 1 1 1.0000 condition_record_support_limited 20 0 1 LOBODONTIA 1 low_record_burden_interpretation_limited low_record_burden_gene ASCC3 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 1 See_cases 13 low_record_burden_interpretation_limited low_record_burden_gene ASCC3 ascc3_related_disorder ASCC3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ASCC3-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene ASCC1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_akinesia_deformation_sequence_1 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASCC1 mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 Centronuclear myopathy MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 1 1 1.0000 condition_record_support_limited 20 0 1 Centronuclear_myopathy 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASCC1 human_phenotype_ontology_hp_0100580_mondo_mondo_0013662_medgen_c0004763_omim_614266_orphanet_99976 Barrett esophagus Human_Phenotype_Ontology:HP:0100580,MONDO:MONDO:0013662,MedGen:C0004763,OMIM:614266,Orphanet:99976 1 1 1.0000 condition_record_support_limited 20 0 0 Barrett_esophagus 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASCC1 human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis_multiplex_congenita 28 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASAH1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASAH1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ASAH1 human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARX mondo_mondo_0017856_medgen_c4510949_orphanet_3175 X-linked spasticity-intellectual disability-epilepsy syndrome MONDO:MONDO:0017856,MedGen:C4510949,Orphanet:3175 1 1 1.0000 condition_record_support_limited 20 0 0 X-linked_spasticity-intellectual_disability-epilepsy_syndrome 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARX mondo_mondo_0018097_medgen_c0037769_orphanet_3451_orphanet_697160 West syndrome MONDO:MONDO:0018097,MedGen:C0037769,Orphanet:3451,Orphanet:697160 1 1 1.0000 condition_record_support_limited 20 0 1 West_syndrome 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARX human_phenotype_ontology_hp_0002119_human_phenotype_ontology_hp_0002447_human_phenotype_ontology_hp_0005691_human_phenotype_ontology_hp_0007071_medgen_c3278923 Ventriculomegaly Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923 1 1 1.0000 condition_record_support_limited 20 0 1 Ventriculomegaly 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARX human_phenotype_ontology_hp_0002272_human_phenotype_ontology_hp_0007165_medgen_c5399973 Periventricular heterotopia Human_Phenotype_Ontology:HP:0002272,Human_Phenotype_Ontology:HP:0007165,MedGen:C5399973 1 1 1.0000 condition_record_support_limited 20 0 1 Periventricular_heterotopia 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARX human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARX human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 0 Generalized_hypotonia 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARX human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Corpus callosum, agenesis of Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 1.0000 condition_record_support_limited 20 0 1 Corpus_callosum,_agenesis_of 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARX human_phenotype_ontology_hp_0100702_mondo_mondo_0008813_medgen_c0078981_orphanet_2356 Arachnoid cyst Human_Phenotype_Ontology:HP:0100702,MONDO:MONDO:0008813,MedGen:C0078981,Orphanet:2356 1 1 1.0000 condition_record_support_limited 20 0 1 Arachnoid_cyst 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARX mondo_mondo_0010568_medgen_c0175713_omim_304050_orphanet_50 Aicardi syndrome MONDO:MONDO:0010568,MedGen:C0175713,OMIM:304050,Orphanet:50 1 1 1.0000 condition_record_support_limited 20 0 0 Aicardi_syndrome 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARX human_phenotype_ontology_hp_0012535_medgen_c4021083 Abnormal synaptic transmission Human_Phenotype_Ontology:HP:0012535,MedGen:C4021083 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_synaptic_transmission 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARX arx_related_disorder ARX-related disorder MedGen:CN378769 1 1 1.0000 condition_record_support_limited 20 0 1 ARX-related_disorder 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARX arx_associated_condition ARX-associated condition . 1 1 1.0000 condition_record_support_limited 20 0 0 ARX-associated_condition 141 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARV1 human_phenotype_ontology_hp_0002180_mondo_mondo_0005559_medgen_c0027746 Neurodegeneration Human_Phenotype_Ontology:HP:0002180,MONDO:MONDO:0005559,MedGen:C0027746 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodegeneration 16 low_record_burden_interpretation_limited low_record_burden_gene ARV1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 16 low_record_burden_interpretation_limited low_record_burden_gene ARV1 human_phenotype_ontology_hp_0000618_human_phenotype_ontology_hp_0007839_mondo_mondo_0001941_medgen_c0456909 Blindness Human_Phenotype_Ontology:HP:0000618,Human_Phenotype_Ontology:HP:0007839,MONDO:MONDO:0001941,MedGen:C0456909 1 1 1.0000 condition_record_support_limited 20 0 1 Blindness 16 low_record_burden_interpretation_limited low_record_burden_gene ARV1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 16 low_record_burden_interpretation_limited low_record_burden_gene ARV1 arv1_related_disorder ARV1-related disorder MedGen:CN235539 1 1 1.0000 condition_record_support_limited 20 0 1 ARV1-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene ARV1 mondo_mondo_0014561_medgen_c5676893_omim_616271_orphanet_445038 3-methylglutaconic aciduria, type VIIB MONDO:MONDO:0014561,MedGen:C5676893,OMIM:616271,Orphanet:445038 1 1 1.0000 condition_record_support_limited 20 0 1 3-methylglutaconic_aciduria,_type_VIIB 16 low_record_burden_interpretation_limited low_record_burden_gene ARSG mondo_mondo_0019501_mesh_d052245_medgen_cn469326_omim_ps276900_orphanet_886 Usher syndrome MONDO:MONDO:0019501,MeSH:D052245,MedGen:CN469326,OMIM:PS276900,Orphanet:886 1 1 1.0000 condition_record_support_limited 20 0 1 Usher_syndrome 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARSA human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_ataxia 357 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARSA mondo_mondo_0030375_medgen_c5543623_omim_619418 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 MONDO:MONDO:0030375,MedGen:C5543623,OMIM:619418 1 1 1.0000 condition_record_support_limited 20 0 1 Neurologic,_endocrine,_and_pancreatic_disease,_multisystem,_infantile-onset_2 357 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARSA mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 357 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARSA medgen_c4017093 METACHROMATIC LEUKODYSTROPHY, LATE-ONSET MedGen:C4017093 1 1 1.0000 condition_record_support_limited 20 0 1 METACHROMATIC_LEUKODYSTROPHY,_LATE-ONSET 357 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARSA human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Leukodystrophy Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 1.0000 condition_record_support_limited 20 0 1 Leukodystrophy 357 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARSA human_phenotype_ontology_hp_0002145_mondo_mondo_0017276_medgen_c0338451_omim_600274_orphanet_282 Frontotemporal dementia Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282 1 1 1.0000 condition_record_support_limited 20 0 1 Frontotemporal_dementia 357 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARSA medgen_c4017095 ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE MedGen:C4017095 1 1 1.0000 condition_record_support_limited 20 0 1 ARYLSULFATASE_A_PSEUDODEFICIENCY,_SEVERE 357 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARSA medgen_c4017096 ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE MedGen:C4017096 1 1 1.0000 condition_record_support_limited 20 0 1 ARYLSULFATASE_A_PSEUDODEFICIENCY,_INTERMEDIATE 357 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARPC1B mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 1 1 1.0000 condition_record_support_limited 20 0 0 Inherited_Immunodeficiency_Diseases 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARPC1B arpc1b_related_disorder ARPC1B-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ARPC1B-related_disorder 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARNT2 mondo_mondo_0014953_medgen_c5568877_omim_617173_orphanet_542306 Gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:MONDO:0014953,MedGen:C5568877,OMIM:617173,Orphanet:542306 1 1 1.0000 condition_record_support_limited 20 0 0 Gnb5-related_intellectual_disability-cardiac_arrhythmia_syndrome 10 low_record_burden_interpretation_limited low_record_burden_gene ARMS2 mondo_mondo_0014768_medgen_c4225211_omim_616779 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 MONDO:MONDO:0014768,MedGen:C4225211,OMIM:616779 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_arteriopathy,_autosomal_dominant,_with_subcortical_infarcts_and_leukoencephalopathy,_type_2 1 low_record_burden_interpretation_limited low_record_burden_gene ARMC5 human_phenotype_ontology_hp_0008231_medgen_c0342495 Macronodular adrenal hyperplasia Human_Phenotype_Ontology:HP:0008231,MedGen:C0342495 1 1 1.0000 condition_record_support_limited 20 0 0 Macronodular_adrenal_hyperplasia 30 compact_adjacent_exon_block_opportunity local_compact_architecture ARMC5 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 30 compact_adjacent_exon_block_opportunity local_compact_architecture ARMC5 mondo_mondo_0009049_medgen_c2062388_omim_ps219080_orphanet_189427 Cushing syndrome due to macronodular adrenal hyperplasia MONDO:MONDO:0009049,MedGen:C2062388,OMIM:PS219080,Orphanet:189427 1 1 1.0000 condition_record_support_limited 20 0 0 Cushing_syndrome_due_to_macronodular_adrenal_hyperplasia 30 compact_adjacent_exon_block_opportunity local_compact_architecture ARMC2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene ARMC2 human_phenotype_ontology_hp_0012207_medgen_c4082176 Reduced sperm motility Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_sperm_motility 7 low_record_burden_interpretation_limited low_record_burden_gene ARMC2 human_phenotype_ontology_hp_0012868_medgen_c4022699 Abnormal sperm tail morphology Human_Phenotype_Ontology:HP:0012868,MedGen:C4022699 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_sperm_tail_morphology 7 low_record_burden_interpretation_limited low_record_burden_gene ARMC2 human_phenotype_ontology_hp_0012864_medgen_c0403824 Abnormal sperm morphology Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_sperm_morphology 7 low_record_burden_interpretation_limited low_record_burden_gene ARL6IP6 mondo_mondo_0015229_medgen_c0752166_omim_ps209900_orphanet_110 Bardet-Biedl syndrome MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110 1 1 1.0000 condition_record_support_limited 20 0 0 Bardet-Biedl_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene ARL6IP1 arl6ip1_related_disorder ARL6IP1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ARL6IP1-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene ARL6 medgen_c2675305 Bardet-Biedl syndrome 1, modifier of MedGen:C2675305 1 1 1.0000 condition_record_support_limited 20 0 1 Bardet-Biedl_syndrome_1,_modifier_of 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARL6 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_eye 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARL3 human_phenotype_ontology_hp_0007789_human_phenotype_ontology_hp_0008020_medgen_c3665342 Progressive cone degeneration Human_Phenotype_Ontology:HP:0007789,Human_Phenotype_Ontology:HP:0008020,MedGen:C3665342 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_cone_degeneration 2 low_record_burden_interpretation_limited low_record_burden_gene ARL3 mondo_mondo_0032570_medgen_c4748442_omim_618161 Joubert syndrome 35 MONDO:MONDO:0032570,MedGen:C4748442,OMIM:618161 1 1 1.0000 condition_record_support_limited 20 0 1 Joubert_syndrome_35 2 low_record_burden_interpretation_limited low_record_burden_gene ARL2BP arl2bp_related_disorder ARL2BP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ARL2BP-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene ARL2 mondo_mondo_0033644_medgen_c5436769_omim_619082 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 MONDO:MONDO:0033644,MedGen:C5436769,OMIM:619082 1 1 1.0000 condition_record_support_limited 20 0 0 Microcornea,_rod-cone_dystrophy,_cataract,_and_posterior_staphyloma_1 1 low_record_burden_interpretation_limited low_record_burden_gene ARL16 mondo_mondo_0957430_medgen_c0036346_orphanet_641496 Childhood-onset schizophrenia MONDO:MONDO:0957430,MedGen:C0036346,Orphanet:641496 1 1 1.0000 condition_record_support_limited 20 0 0 Childhood-onset_schizophrenia 1 low_record_burden_interpretation_limited low_record_burden_gene ARL14EP condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene ARL14EP human_phenotype_ontology_hp_0001956_human_phenotype_ontology_hp_0008885_medgen_c4551560 Truncal obesity Human_Phenotype_Ontology:HP:0001956,Human_Phenotype_Ontology:HP:0008885,MedGen:C4551560 1 1 1.0000 condition_record_support_limited 20 0 1 Truncal_obesity 1 low_record_burden_interpretation_limited low_record_burden_gene ARL14EP human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 1 low_record_burden_interpretation_limited low_record_burden_gene ARL14EP human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene ARL14EP human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 1 low_record_burden_interpretation_limited low_record_burden_gene ARL13B mondo_mondo_0018772_medgen_c5979921_omim_ps213300_orphanet_475 Joubert syndrome MONDO:MONDO:0018772,MedGen:C5979921,OMIM:PS213300,Orphanet:475 1 1 1.0000 condition_record_support_limited 20 0 1 Joubert_syndrome 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARL13B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARIH2 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 1 low_record_burden_interpretation_limited low_record_burden_gene ARID4A human_phenotype_ontology_hp_0006775_mondo_mondo_0009693_mesh_d009101_medgen_c0026764_omim_254500_orphanet_29073_orphanet_85443 Multiple myeloma Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443 1 1 1.0000 condition_record_support_limited 20 0 0 Multiple_myeloma 1 low_record_burden_interpretation_limited low_record_burden_gene ARID2 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 101 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID2 mondo_mondo_0016711_medgen_c0751291_orphanet_251863 Desmoplastic/nodular medulloblastoma MONDO:MONDO:0016711,MedGen:C0751291,Orphanet:251863 1 1 1.0000 condition_record_support_limited 20 0 0 Desmoplastic/nodular_medulloblastoma 101 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID2 human_phenotype_ontology_hp_0002028_mondo_mondo_0044751_medgen_c0401151 Chronic diarrhea Human_Phenotype_Ontology:HP:0002028,MONDO:MONDO:0044751,MedGen:C0401151 1 1 1.0000 condition_record_support_limited 20 0 0 Chronic_diarrhea 101 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B intellectual_deficiency intellectual deficiency MedGen:CN228659 1 1 1.0000 condition_record_support_limited 20 0 1 intellectual_deficiency 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B dysmorphy dysmorphy MedGen:CN239859 1 1 1.0000 condition_record_support_limited 20 0 1 dysmorphy 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B mondo_mondo_0011518_medgen_c1854630_omim_605130_orphanet_319182 Wiedemann-Steiner syndrome MONDO:MONDO:0011518,MedGen:C1854630,OMIM:605130,Orphanet:319182 1 1 1.0000 condition_record_support_limited 20 0 0 Wiedemann-Steiner_syndrome 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0002205_human_phenotype_ontology_hp_0002782_human_phenotype_ontology_hp_0002873_medgen_c3806482 Recurrent respiratory infections Human_Phenotype_Ontology:HP:0002205,Human_Phenotype_Ontology:HP:0002782,Human_Phenotype_Ontology:HP:0002873,MedGen:C3806482 1 1 1.0000 condition_record_support_limited 20 0 1 Recurrent_respiratory_infections 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_intellectual_disability 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B mondo_mondo_0018997_mesh_d009634_medgen_c0028326_omim_ps163950_orphanet_648 Noonan syndrome MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648 1 1 1.0000 condition_record_support_limited 20 0 0 Noonan_syndrome 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B mondo_mondo_0011053_medgen_c1303073_omim_601358_orphanet_3051 Nicolaides-Baraitser syndrome MONDO:MONDO:0011053,MedGen:C1303073,OMIM:601358,Orphanet:3051 1 1 1.0000 condition_record_support_limited 20 0 1 Nicolaides-Baraitser_syndrome 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0001319_human_phenotype_ontology_hp_0008976_medgen_c2267233 Neonatal hypotonia Human_Phenotype_Ontology:HP:0001319,Human_Phenotype_Ontology:HP:0008976,MedGen:C2267233 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_hypotonia 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0001793_human_phenotype_ontology_hp_0001794_human_phenotype_ontology_hp_0001797_human_phenotype_ontology_hp_0002164_human_phenotype_ontology_hp_0008387_human_phenotype_ontology_hp_0008403_human_phenotype_ontology_hp_0008409_human_phenotype_ontology_hp_0008412_medgen_c1834405 Nail dysplasia Human_Phenotype_Ontology:HP:0001793,Human_Phenotype_Ontology:HP:0001794,Human_Phenotype_Ontology:HP:0001797,Human_Phenotype_Ontology:HP:0002164,Human_Phenotype_Ontology:HP:0008387,Human_Phenotype_Ontology:HP:0008403,Human_Phenotype_Ontology:HP:0008409,Human_Phenotype_Ontology:HP:0008412,MedGen:C1834405 1 1 1.0000 condition_record_support_limited 20 0 1 Nail_dysplasia 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0002885_mondo_mondo_0007959_mesh_d008527_medgen_c0025149_omim_155255_orphanet_616 Medulloblastoma Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616 1 1 1.0000 condition_record_support_limited 20 0 1 Medulloblastoma 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0001007_medgen_c0019572 Hirsutism Human_Phenotype_Ontology:HP:0001007,MedGen:C0019572 1 1 1.0000 condition_record_support_limited 20 0 1 Hirsutism 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0001508_human_phenotype_ontology_hp_0001535_human_phenotype_ontology_hp_0008853_human_phenotype_ontology_hp_0008878_human_phenotype_ontology_hp_0008916_medgen_c2315100 Failure to thrive Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0001823_human_phenotype_ontology_hp_0001826_human_phenotype_ontology_hp_0004325_medgen_c5574742 Decreased body weight Human_Phenotype_Ontology:HP:0001823,Human_Phenotype_Ontology:HP:0001826,Human_Phenotype_Ontology:HP:0004325,MedGen:C5574742 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_body_weight 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0002019_human_phenotype_ontology_hp_0002241_human_phenotype_ontology_hp_0003786_mondo_mondo_0002203_medgen_c0009806 Constipation Human_Phenotype_Ontology:HP:0002019,Human_Phenotype_Ontology:HP:0002241,Human_Phenotype_Ontology:HP:0003786,MONDO:MONDO:0002203,MedGen:C0009806 1 1 1.0000 condition_record_support_limited 20 0 1 Constipation 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cerebellar_hypoplasia 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0008686_human_phenotype_ontology_hp_0008689_medgen_c0431663 Bilateral cryptorchidism Human_Phenotype_Ontology:HP:0008686,Human_Phenotype_Ontology:HP:0008689,MedGen:C0431663 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_cryptorchidism 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B autosomal_dominant_arid1b_related_disorders Autosomal dominant ARID1B-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_ARID1B-related_disorders 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1B human_phenotype_ontology_hp_0002167_medgen_c3687424 Abnormal speech pattern Human_Phenotype_Ontology:HP:0002167,MedGen:C3687424 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_speech_pattern 566 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1A human_phenotype_ontology_hp_0100842_mondo_mondo_0008428_medgen_c0338503_omim_182230_orphanet_3157 Septo-optic dysplasia sequence Human_Phenotype_Ontology:HP:0100842,MONDO:MONDO:0008428,MedGen:C0338503,OMIM:182230,Orphanet:3157 1 1 1.0000 condition_record_support_limited 20 0 0 Septo-optic_dysplasia_sequence 141 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1A human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 1.0000 condition_record_support_limited 20 0 0 Non-immune_hydrops_fetalis 141 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARID1A human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 141 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARHGEF9 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARHGEF9 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARHGEF9 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARHGEF9 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_disorder 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARHGEF9 mondo_mondo_0010632_medgen_c3463992_omim_308350 Developmental and epileptic encephalopathy, 1 MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_1 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARHGEF9 arhgef9_related_neurodevelopmental_disorder ARHGEF9-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ARHGEF9-related_neurodevelopmental_disorder 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARHGEF9 arhgef9_related_disorder ARHGEF9-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ARHGEF9-related_disorder 51 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARHGEF26 mondo_mondo_0014141_medgen_c3809221_omim_615351 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351 1 1 1.0000 condition_record_support_limited 20 0 0 Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B14 1 low_record_burden_interpretation_limited low_record_burden_gene ARHGEF25 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 1 low_record_burden_interpretation_limited low_record_burden_gene ARHGEF2 mondo_mondo_0056797_medgen_c4479613_omim_617523 Neurodevelopmental disorder with midbrain and hindbrain malformations MONDO:MONDO:0056797,MedGen:C4479613,OMIM:617523 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_midbrain_and_hindbrain_malformations 1 low_record_burden_interpretation_limited low_record_burden_gene ARHGEF18 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_dystrophy 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARHGEF15 mondo_mondo_0100620_medgen_c5779964 Developmental and epileptic encephalopathy MONDO:MONDO:0100620,MedGen:C5779964 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy 1 low_record_burden_interpretation_limited low_record_burden_gene ARHGEF10L cerebral_visual_impairment_and_intellectual_disability Cerebral visual impairment and intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_visual_impairment_and_intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene ARHGAP6 amelx_related_disorder AMELX-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 AMELX-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene ARHGAP5 human_phenotype_ontology_hp_0004935_medgen_c0265908 Pulmonary artery atresia Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908 1 1 1.0000 condition_record_support_limited 20 0 0 Pulmonary_artery_atresia 2 low_record_burden_interpretation_limited low_record_burden_gene ARHGAP5 mondo_mondo_8000008_medgen_c5542298_omim_212720_orphanet_1387 Martsolf syndrome 1 MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720,Orphanet:1387 1 1 1.0000 condition_record_support_limited 20 0 0 Martsolf_syndrome_1 2 low_record_burden_interpretation_limited low_record_burden_gene ARHGAP4 mondo_mondo_0010581_medgen_c1563705_omim_304800_orphanet_223 Diabetes insipidus, nephrogenic, X-linked MONDO:MONDO:0010581,MedGen:C1563705,OMIM:304800,Orphanet:223 1 1 1.0000 condition_record_support_limited 20 0 0 Diabetes_insipidus,_nephrogenic,_X-linked 1 low_record_burden_interpretation_limited low_record_burden_gene ARHGAP35 human_phenotype_ontology_hp_0011480_medgen_c3640024 Unilateral microphthalmos Human_Phenotype_Ontology:HP:0011480,MedGen:C3640024 1 1 1.0000 condition_record_support_limited 20 0 0 Unilateral_microphthalmos 17 low_record_burden_interpretation_limited low_record_burden_gene ARHGAP35 mondo_mondo_0016073_medgen_c5679782_omim_ps309800_orphanet_202948 Syndromic microphthalmia MONDO:MONDO:0016073,MedGen:C5679782,OMIM:PS309800,Orphanet:202948 1 1 1.0000 condition_record_support_limited 20 0 1 Syndromic_microphthalmia 17 low_record_burden_interpretation_limited low_record_burden_gene ARHGAP35 human_phenotype_ontology_hp_0000659_mondo_mondo_0011414_medgen_c0344559_omim_604229_orphanet_708 Irido-corneo-trabecular dysgenesis Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708 1 1 1.0000 condition_record_support_limited 20 0 0 Irido-corneo-trabecular_dysgenesis 17 low_record_burden_interpretation_limited low_record_burden_gene ARHGAP35 human_phenotype_ontology_hp_0001143_human_phenotype_ontology_hp_0001585_human_phenotype_ontology_hp_0007633_medgen_c1843496 Bilateral microphthalmos Human_Phenotype_Ontology:HP:0001143,Human_Phenotype_Ontology:HP:0001585,Human_Phenotype_Ontology:HP:0007633,MedGen:C1843496 1 1 1.0000 condition_record_support_limited 20 0 1 Bilateral_microphthalmos 17 low_record_burden_interpretation_limited low_record_burden_gene ARHGAP32 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 2 low_record_burden_interpretation_limited low_record_burden_gene ARHGAP32 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 0 Global_developmental_delay 2 low_record_burden_interpretation_limited low_record_burden_gene ARHGAP31 human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_palsy 4 low_record_burden_interpretation_limited low_record_burden_gene ARHGAP29 arhgap29_related_disorder ARHGAP29-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ARHGAP29-related_disorder 7 low_record_burden_interpretation_limited low_record_burden_gene ARHGAP21 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 1 low_record_burden_interpretation_limited low_record_burden_gene ARHGAP11A mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 1 low_record_burden_interpretation_limited low_record_burden_gene ARG1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 138 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARFGEF2 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARFGEF2 human_phenotype_ontology_hp_0032389_medgen_c2678104 Periventricular laminar heterotopia Human_Phenotype_Ontology:HP:0032389,MedGen:C2678104 1 1 1.0000 condition_record_support_limited 20 0 0 Periventricular_laminar_heterotopia 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARFGEF2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARFGEF2 human_phenotype_ontology_hp_0000238_human_phenotype_ontology_hp_0007189_human_phenotype_ontology_hp_0008503_mondo_mondo_0001150_medgen_c0020255 Hydrocephalus Human_Phenotype_Ontology:HP:0000238,Human_Phenotype_Ontology:HP:0007189,Human_Phenotype_Ontology:HP:0008503,MONDO:MONDO:0001150,MedGen:C0020255 1 1 1.0000 condition_record_support_limited 20 0 1 Hydrocephalus 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARFGEF2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ARFGEF1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 79 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARFGEF1 human_phenotype_ontology_hp_0002358_human_phenotype_ontology_hp_0007359_medgen_c0751495 Focal-onset seizure Human_Phenotype_Ontology:HP:0002358,Human_Phenotype_Ontology:HP:0007359,MedGen:C0751495 1 1 1.0000 condition_record_support_limited 20 0 1 Focal-onset_seizure 79 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARFGEF1 human_phenotype_ontology_hp_0031936_medgen_c0241726 Delayed ability to walk Human_Phenotype_Ontology:HP:0031936,MedGen:C0241726 1 1 1.0000 condition_record_support_limited 20 0 0 Delayed_ability_to_walk 79 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ARF3 human_phenotype_ontology_hp_0100716_medgen_c0085271 Self-injurious behavior Human_Phenotype_Ontology:HP:0100716,MedGen:C0085271 1 1 1.0000 condition_record_support_limited 20 0 1 Self-injurious_behavior 10 low_record_burden_interpretation_limited low_record_burden_gene ARF3 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 10 low_record_burden_interpretation_limited low_record_burden_gene ARF3 human_phenotype_ontology_hp_0000767_human_phenotype_ontology_hp_0006613_human_phenotype_ontology_hp_0006617_mondo_mondo_0008213_medgen_c2051831_omim_169300 Pectus excavatum Human_Phenotype_Ontology:HP:0000767,Human_Phenotype_Ontology:HP:0006613,Human_Phenotype_Ontology:HP:0006617,MONDO:MONDO:0008213,MedGen:C2051831,OMIM:169300 1 1 1.0000 condition_record_support_limited 20 0 1 Pectus_excavatum 10 low_record_burden_interpretation_limited low_record_burden_gene ARF3 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 10 low_record_burden_interpretation_limited low_record_burden_gene ARF3 human_phenotype_ontology_hp_0002058_human_phenotype_ontology_hp_0004647_medgen_c0332615 Myopathic facies Human_Phenotype_Ontology:HP:0002058,Human_Phenotype_Ontology:HP:0004647,MedGen:C0332615 1 1 1.0000 condition_record_support_limited 20 0 1 Myopathic_facies 10 low_record_burden_interpretation_limited low_record_burden_gene ARF3 human_phenotype_ontology_hp_0001270_human_phenotype_ontology_hp_0001307_human_phenotype_ontology_hp_0002130_human_phenotype_ontology_hp_0006788_human_phenotype_ontology_hp_0006826_human_phenotype_ontology_hp_0006909_human_phenotype_ontology_hp_0006950_human_phenotype_ontology_hp_0006968_human_phenotype_ontology_hp_0007219_human_phenotype_ontology_hp_0007251_medgen_c1854301 Motor delay Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301 1 1 1.0000 condition_record_support_limited 20 0 1 Motor_delay 10 low_record_burden_interpretation_limited low_record_burden_gene ARF3 human_phenotype_ontology_hp_0000472_medgen_c1839816 Long neck Human_Phenotype_Ontology:HP:0000472,MedGen:C1839816 1 1 1.0000 condition_record_support_limited 20 0 1 Long_neck 10 low_record_burden_interpretation_limited low_record_burden_gene ARF3 human_phenotype_ontology_hp_0400004_medgen_c1848657 Long ear Human_Phenotype_Ontology:HP:0400004,MedGen:C1848657 1 1 1.0000 condition_record_support_limited 20 0 1 Long_ear 10 low_record_burden_interpretation_limited low_record_burden_gene ARF3 human_phenotype_ontology_hp_0002769_human_phenotype_ontology_hp_0002808_human_phenotype_ontology_hp_0003314_medgen_c0022821 Kyphosis Human_Phenotype_Ontology:HP:0002769,Human_Phenotype_Ontology:HP:0002808,Human_Phenotype_Ontology:HP:0003314,MedGen:C0022821 1 1 1.0000 condition_record_support_limited 20 0 1 Kyphosis 10 low_record_burden_interpretation_limited low_record_burden_gene ARF3 human_phenotype_ontology_hp_0001627_human_phenotype_ontology_hp_3000001_mondo_mondo_0009327_mesh_d006330_medgen_c0018798 Heart, malformation of Human_Phenotype_Ontology:HP:0001627,Human_Phenotype_Ontology:HP:3000001,MONDO:MONDO:0009327,MeSH:D006330,MedGen:C0018798 1 1 1.0000 condition_record_support_limited 20 0 1 Heart,_malformation_of 10 low_record_burden_interpretation_limited low_record_burden_gene ARF3 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 10 low_record_burden_interpretation_limited low_record_burden_gene ARF3 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 10 low_record_burden_interpretation_limited low_record_burden_gene ARF3 human_phenotype_ontology_hp_0012434_medgen_c4022906 Delayed early-childhood social milestone development Human_Phenotype_Ontology:HP:0012434,MedGen:C4022906 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_early-childhood_social_milestone_development 10 low_record_burden_interpretation_limited low_record_burden_gene ARF3 human_phenotype_ontology_hp_0030084_medgen_c4551485 Clinodactyly Human_Phenotype_Ontology:HP:0030084,MedGen:C4551485 1 1 1.0000 condition_record_support_limited 20 0 1 Clinodactyly 10 low_record_burden_interpretation_limited low_record_burden_gene ARF3 human_phenotype_ontology_hp_0000173_human_phenotype_ontology_hp_0000193_mondo_mondo_0008637_medgen_c4551488_omim_192100_orphanet_99771 Bifid uvula Human_Phenotype_Ontology:HP:0000173,Human_Phenotype_Ontology:HP:0000193,MONDO:MONDO:0008637,MedGen:C4551488,OMIM:192100,Orphanet:99771 1 1 1.0000 condition_record_support_limited 20 0 1 Bifid_uvula 10 low_record_burden_interpretation_limited low_record_burden_gene ARF3 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 10 low_record_burden_interpretation_limited low_record_burden_gene ARF3 human_phenotype_ontology_hp_0000164_human_phenotype_ontology_hp_0001567_human_phenotype_ontology_hp_0006296_human_phenotype_ontology_hp_0006348_medgen_c0262444 Abnormality of the dentition Human_Phenotype_Ontology:HP:0000164,Human_Phenotype_Ontology:HP:0001567,Human_Phenotype_Ontology:HP:0006296,Human_Phenotype_Ontology:HP:0006348,MedGen:C0262444 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_dentition 10 low_record_burden_interpretation_limited low_record_burden_gene ARF1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 12 low_record_burden_interpretation_limited low_record_burden_gene ARCN1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AR mondo_mondo_0010765_medgen_c2936694_omim_ps400044_orphanet_242 Pure gonadal dysgenesis 46,XY MONDO:MONDO:0010765,MedGen:C2936694,OMIM:PS400044,Orphanet:242 1 1 1.0000 condition_record_support_limited 20 0 1 Pure_gonadal_dysgenesis_46,XY 365 compact_adjacent_exon_block_opportunity local_compact_architecture AR human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 1.0000 condition_record_support_limited 20 0 1 Non-obstructive_azoospermia 365 compact_adjacent_exon_block_opportunity local_compact_architecture AR medgen_c5681165_orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation MedGen:C5681165,Orphanet:399805 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation 365 compact_adjacent_exon_block_opportunity local_compact_architecture AR mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 365 compact_adjacent_exon_block_opportunity local_compact_architecture AR human_phenotype_ontology_hp_0008719_human_phenotype_ontology_hp_0008730_medgen_c1848178 Female external genitalia in individual with 46,XY karyotype Human_Phenotype_Ontology:HP:0008719,Human_Phenotype_Ontology:HP:0008730,MedGen:C1848178 1 1 1.0000 condition_record_support_limited 20 0 1 Female_external_genitalia_in_individual_with_46,XY_karyotype 365 compact_adjacent_exon_block_opportunity local_compact_architecture AR mondo_mondo_0700275_medgen_c2931456_omim_176807_orphanet_1331 Familial prostate cancer MONDO:MONDO:0700275,MedGen:C2931456,OMIM:176807,Orphanet:1331 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_prostate_cancer 365 compact_adjacent_exon_block_opportunity local_compact_architecture AR mondo_mondo_0021023_medgen_c0936016_orphanet_99429 Complete androgen insensitivity syndrome MONDO:MONDO:0021023,MedGen:C0936016,Orphanet:99429 1 1 1.0000 condition_record_support_limited 20 0 0 Complete_androgen_insensitivity_syndrome 365 compact_adjacent_exon_block_opportunity local_compact_architecture AR human_phenotype_ontology_hp_0000151_medgen_c0425913 Aplasia of the uterus Human_Phenotype_Ontology:HP:0000151,MedGen:C0425913 1 1 1.0000 condition_record_support_limited 20 0 1 Aplasia_of_the_uterus 365 compact_adjacent_exon_block_opportunity local_compact_architecture AR medgen_c4016581 Androgen insensitivity, partial, with breast cancer MedGen:C4016581 1 1 1.0000 condition_record_support_limited 20 0 0 Androgen_insensitivity,_partial,_with_breast_cancer 365 compact_adjacent_exon_block_opportunity local_compact_architecture AR human_phenotype_ontology_hp_0002555_human_phenotype_ontology_hp_0004537_human_phenotype_ontology_hp_0004556_medgen_c1859391 Absent pubic hair Human_Phenotype_Ontology:HP:0002555,Human_Phenotype_Ontology:HP:0004537,Human_Phenotype_Ontology:HP:0004556,MedGen:C1859391 1 1 1.0000 condition_record_support_limited 20 0 1 Absent_pubic_hair 365 compact_adjacent_exon_block_opportunity local_compact_architecture AR human_phenotype_ontology_hp_0002221_human_phenotype_ontology_hp_0004549_medgen_c1859392 Absent axillary hair Human_Phenotype_Ontology:HP:0002221,Human_Phenotype_Ontology:HP:0004549,MedGen:C1859392 1 1 1.0000 condition_record_support_limited 20 0 1 Absent_axillary_hair 365 compact_adjacent_exon_block_opportunity local_compact_architecture AQP5 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene AQP4 mondo_mondo_0957534_medgen_c5830628_omim_620448 Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MONDO:MONDO:0957534,MedGen:C5830628,OMIM:620448 1 1 1.0000 condition_record_support_limited 20 0 0 Megalencephalic_leukoencephalopathy_with_subcortical_cysts_4,_remitting 2 low_record_burden_interpretation_limited low_record_burden_gene AQP4 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 2 low_record_burden_interpretation_limited low_record_burden_gene AQP2 human_phenotype_ontology_hp_0000873_mondo_mondo_0004782_medgen_c0011848 Diabetes insipidus Human_Phenotype_Ontology:HP:0000873,MONDO:MONDO:0004782,MedGen:C0011848 1 1 1.0000 condition_record_support_limited 20 0 1 Diabetes_insipidus 75 compact_adjacent_exon_block_opportunity local_compact_architecture AQP1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene AQP1 medgen_c1862554 Colton-null phenotype MedGen:C1862554 1 1 1.0000 condition_record_support_limited 20 0 0 Colton-null_phenotype 3 low_record_burden_interpretation_limited low_record_burden_gene AQP1 aqp1_related_pulmonary_hypertension AQP1-related pulmonary hypertension . 1 1 1.0000 condition_record_support_limited 20 0 0 AQP1-related_pulmonary_hypertension 3 low_record_burden_interpretation_limited low_record_burden_gene APTX mondo_mondo_0100309_medgen_c0004138_orphanet_183518 Hereditary ataxia MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_ataxia 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APTX mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APTX aptx_related_disorder APTX-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 APTX-related_disorder 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APRT medgen_c0268121 APRT deficiency, Japanese type MedGen:C0268121 1 1 1.0000 condition_record_support_limited 20 0 1 APRT_deficiency,_Japanese_type 77 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APPL1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene APPL1 mondo_mondo_0014674_medgen_c4225299_omim_616511_orphanet_552 Maturity-onset diabetes of the young type 14 MONDO:MONDO:0014674,MedGen:C4225299,OMIM:616511,Orphanet:552 1 1 1.0000 condition_record_support_limited 20 0 0 Maturity-onset_diabetes_of_the_young_type_14 2 low_record_burden_interpretation_limited low_record_burden_gene APP medgen_c5779573 Primary degenerative dementia of the Alzheimer type, presenile onset MedGen:C5779573 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_degenerative_dementia_of_the_Alzheimer_type,_presenile_onset 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APP cerebral_amyloid_angiopathy_app_related_piedmont_variant CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT . 1 1 1.0000 condition_record_support_limited 20 0 1 CEREBRAL_AMYLOID_ANGIOPATHY,_APP-RELATED,_PIEDMONT_VARIANT 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APP mondo_mondo_0017948_medgen_c3888307_orphanet_324718 ABetaA21G amyloidosis MONDO:MONDO:0017948,MedGen:C3888307,Orphanet:324718 1 1 1.0000 condition_record_support_limited 20 0 1 ABetaA21G_amyloidosis 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APP mondo_mondo_0015033_medgen_c2931672_orphanet_100006 ABeta amyloidosis, dutch type MONDO:MONDO:0015033,MedGen:C2931672,Orphanet:100006 1 1 1.0000 condition_record_support_limited 20 0 1 ABeta_amyloidosis,_dutch_type 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APP mondo_mondo_0017947_medgen_c3888308_orphanet_324713 ABeta amyloidosis, Italian type MONDO:MONDO:0017947,MedGen:C3888308,Orphanet:324713 1 1 1.0000 condition_record_support_limited 20 0 1 ABeta_amyloidosis,_Italian_type 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APP mondo_mondo_0017946_medgen_c3888309_orphanet_324708 ABeta amyloidosis, Iowa type MONDO:MONDO:0017946,MedGen:C3888309,Orphanet:324708 1 1 1.0000 condition_record_support_limited 20 0 1 ABeta_amyloidosis,_Iowa_type 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APP mondo_mondo_0017949_medgen_c2751494_orphanet_324723 ABeta amyloidosis, Arctic type MONDO:MONDO:0017949,MedGen:C2751494,Orphanet:324723 1 1 1.0000 condition_record_support_limited 20 0 1 ABeta_amyloidosis,_Arctic_type 27 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOO condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene APOO x_linked_recessive_mitochondrial_myopathy X-­linked recessive mitochondrial myopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 X-­linked_recessive_mitochondrial_myopathy 1 low_record_burden_interpretation_limited low_record_burden_gene APOO human_phenotype_ontology_hp_0003128_human_phenotype_ontology_hp_0003255_human_phenotype_ontology_hp_0005960_mondo_mondo_0006040_medgen_c0001125 Lactic acidosis Human_Phenotype_Ontology:HP:0003128,Human_Phenotype_Ontology:HP:0003255,Human_Phenotype_Ontology:HP:0005960,MONDO:MONDO:0006040,MedGen:C0001125 1 1 1.0000 condition_record_support_limited 20 0 1 Lactic_acidosis 1 low_record_burden_interpretation_limited low_record_burden_gene APOO cognitive_impairment_and_autistic_features Cognitive impairment and autistic features . 1 1 1.0000 condition_record_support_limited 20 0 1 Cognitive_impairment_and_autistic_features 1 low_record_burden_interpretation_limited low_record_burden_gene APOH condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene APOE medgen_c4479659 Hyperlipoproteinemia, type III, due to APOE2 MedGen:C4479659 1 1 1.0000 condition_record_support_limited 20 0 0 Hyperlipoproteinemia,_type_III,_due_to_APOE2 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOE hyperlipoproteinemia_type_iv_v_due_to_apoe2_dunedin HYPERLIPOPROTEINEMIA, TYPE IV/V, DUE TO APOE2-DUNEDIN . 1 1 1.0000 condition_record_support_limited 20 0 1 HYPERLIPOPROTEINEMIA,_TYPE_IV/V,_DUE_TO_APOE2-DUNEDIN 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOE hyperlipoproteinemia_type_iii_associated_with_apoe3_washington HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON) . 1 1 1.0000 condition_record_support_limited 20 0 1 HYPERLIPOPROTEINEMIA,_TYPE_III,_ASSOCIATED_WITH_APOE3(WASHINGTON) 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOE hyperlipoproteinemia_type_iii_and_atherosclerosis_associated_with_apoe5 HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5 . 1 1 1.0000 condition_record_support_limited 20 0 0 HYPERLIPOPROTEINEMIA,_TYPE_III,_AND_ATHEROSCLEROSIS_ASSOCIATED_WITH_APOE5 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOE mondo_mondo_0011743_medgen_c1847200_omim_606889_orphanet_1020 Alzheimer disease 4 MONDO:MONDO:0011743,MedGen:C1847200,OMIM:606889,Orphanet:1020 1 1 1.0000 condition_record_support_limited 20 0 1 Alzheimer_disease_4 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOE mondo_mondo_0011913_medgen_c1843013_omim_607822_orphanet_1020 Alzheimer disease 3 MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822,Orphanet:1020 1 1 1.0000 condition_record_support_limited 20 0 1 Alzheimer_disease_3 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOE mondo_mondo_0007089_medgen_c1863051_omim_104310_orphanet_1020 Alzheimer disease 2 MONDO:MONDO:0007089,MedGen:C1863051,OMIM:104310,Orphanet:1020 1 1 1.0000 condition_record_support_limited 20 0 1 Alzheimer_disease_2 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOE mondo_mondo_0011285_medgen_c1864205_omim_603075 Age related macular degeneration 1 MONDO:MONDO:0011285,MedGen:C1864205,OMIM:603075 1 1 1.0000 condition_record_support_limited 20 0 1 Age_related_macular_degeneration_1 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOE human_phenotype_ontology_hp_0003119_human_phenotype_ontology_hp_0003611_medgen_c4025650 Abnormal circulating lipid concentration Human_Phenotype_Ontology:HP:0003119,Human_Phenotype_Ontology:HP:0003611,MedGen:C4025650 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_circulating_lipid_concentration 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOE apoe4_variant APOE4 VARIANT . 1 1 1.0000 condition_record_support_limited 20 0 0 APOE4_VARIANT 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOE apoe2_dunedin APOE2-DUNEDIN . 1 1 1.0000 condition_record_support_limited 20 0 1 APOE2-DUNEDIN 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOE apoe2_variant APOE2 VARIANT . 1 1 1.0000 condition_record_support_limited 20 0 0 APOE2_VARIANT 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOE apoe_related_disorder APOE-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 APOE-related_disorder 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOC3 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 1 . 3 low_record_burden_interpretation_limited low_record_burden_gene APOC3 medgen_c4017419 High density lipoprotein deficiency, Detroit type MedGen:C4017419 1 1 1.0000 condition_record_support_limited 20 0 1 High_density_lipoprotein_deficiency,_Detroit_type 3 low_record_burden_interpretation_limited low_record_burden_gene APOC3 mondo_mondo_0013534_medgen_c3151467_omim_614028 Apolipoprotein c-III deficiency MONDO:MONDO:0013534,MedGen:C3151467,OMIM:614028 1 1 1.0000 condition_record_support_limited 20 0 0 Apolipoprotein_c-III_deficiency 3 low_record_burden_interpretation_limited low_record_burden_gene APOC3 apolipoprotein_c_iii_nonglycosylated Apolipoprotein C-III, nonglycosylated . 1 1 1.0000 condition_record_support_limited 20 0 0 Apolipoprotein_C-III,_nonglycosylated 3 low_record_burden_interpretation_limited low_record_burden_gene APOC2 apolipoprotein_c_ii_wakayama APOLIPOPROTEIN C-II (WAKAYAMA) . 1 1 1.0000 condition_record_support_limited 20 0 1 APOLIPOPROTEIN_C-II_(WAKAYAMA) 18 low_record_burden_interpretation_limited low_record_burden_gene APOC2 apolipoprotein_c_ii_toronto APOLIPOPROTEIN C-II (TORONTO) . 1 1 1.0000 condition_record_support_limited 20 0 1 APOLIPOPROTEIN_C-II_(TORONTO) 18 low_record_burden_interpretation_limited low_record_burden_gene APOC2 apolipoprotein_c_ii_st_michael APOLIPOPROTEIN C-II (ST. MICHAEL) . 1 1 1.0000 condition_record_support_limited 20 0 1 APOLIPOPROTEIN_C-II_(ST._MICHAEL) 18 low_record_burden_interpretation_limited low_record_burden_gene APOC2 apolipoprotein_c_ii_paris APOLIPOPROTEIN C-II (PARIS) . 1 1 1.0000 condition_record_support_limited 20 0 1 APOLIPOPROTEIN_C-II_(PARIS) 18 low_record_burden_interpretation_limited low_record_burden_gene APOC2 apolipoprotein_c_ii_padova APOLIPOPROTEIN C-II (PADOVA) . 1 1 1.0000 condition_record_support_limited 20 0 1 APOLIPOPROTEIN_C-II_(PADOVA) 18 low_record_burden_interpretation_limited low_record_burden_gene APOC2 apolipoprotein_c_ii_hamburg APOLIPOPROTEIN C-II (HAMBURG) . 1 1 1.0000 condition_record_support_limited 20 0 1 APOLIPOPROTEIN_C-II_(HAMBURG) 18 low_record_burden_interpretation_limited low_record_burden_gene APOC2 apolipoprotein_c_ii_bari APOLIPOPROTEIN C-II (BARI) . 1 1 1.0000 condition_record_support_limited 20 0 1 APOLIPOPROTEIN_C-II_(BARI) 18 low_record_burden_interpretation_limited low_record_burden_gene APOC2 apolipoprotein_c_ii_auckland APOLIPOPROTEIN C-II (AUCKLAND) . 1 1 1.0000 condition_record_support_limited 20 0 1 APOLIPOPROTEIN_C-II_(AUCKLAND) 18 low_record_burden_interpretation_limited low_record_burden_gene APOA5 human_phenotype_ontology_hp_0002155_human_phenotype_ontology_hp_0003082_human_phenotype_ontology_hp_0008174_human_phenotype_ontology_hp_0008332_mondo_mondo_0005347_medgen_c0813230 Hypertriglyceridemia Human_Phenotype_Ontology:HP:0002155,Human_Phenotype_Ontology:HP:0003082,Human_Phenotype_Ontology:HP:0008174,Human_Phenotype_Ontology:HP:0008332,MONDO:MONDO:0005347,MedGen:C0813230 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertriglyceridemia 14 low_record_burden_interpretation_limited low_record_burden_gene APOA5 human_phenotype_ontology_hp_0010980_mondo_mondo_0037748_medgen_c0020476 Hyperlipoproteinemia Human_Phenotype_Ontology:HP:0010980,MONDO:MONDO:0037748,MedGen:C0020476 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperlipoproteinemia 14 low_record_burden_interpretation_limited low_record_burden_gene APOA2 mondo_mondo_0980749_medgen_c3888202_omim_621417 APOLIPOPROTEIN A-II DEFICIENCY MONDO:MONDO:0980749,MedGen:C3888202,OMIM:621417 1 1 1.0000 condition_record_support_limited 20 0 0 APOLIPOPROTEIN_A-II_DEFICIENCY 3 low_record_burden_interpretation_limited low_record_burden_gene APOA1 medgen_c4017419 High density lipoprotein deficiency, Detroit type MedGen:C4017419 1 1 1.0000 condition_record_support_limited 20 0 1 High_density_lipoprotein_deficiency,_Detroit_type 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOA1 mondo_mondo_0013048_medgen_c2752008_omim_612936_orphanet_280763 Hereditary spastic paraplegia 50 MONDO:MONDO:0013048,MedGen:C2752008,OMIM:612936,Orphanet:280763 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_spastic_paraplegia_50 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOA1 apolipoprotein_a_i_munster3c APOLIPOPROTEIN A-I (MUNSTER3C) . 1 1 1.0000 condition_record_support_limited 20 0 0 APOLIPOPROTEIN_A-I_(MUNSTER3C) 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOA1 apolipoprotein_a_i_milano APOLIPOPROTEIN A-I (MILANO) . 1 1 1.0000 condition_record_support_limited 20 0 0 APOLIPOPROTEIN_A-I_(MILANO) 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APOA1 apolipoprotein_a_i_marburg APOLIPOPROTEIN A-I (MARBURG) . 1 1 1.0000 condition_record_support_limited 20 0 0 APOLIPOPROTEIN_A-I_(MARBURG) 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture APCDD1 mondo_mondo_0011549_medgen_c4551976_omim_605389_orphanet_55654 Hypotrichosis 1 MONDO:MONDO:0011549,MedGen:C4551976,OMIM:605389,Orphanet:55654 1 1 1.0000 condition_record_support_limited 20 0 0 Hypotrichosis_1 1 low_record_burden_interpretation_limited low_record_burden_gene APC2 human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Esophageal atresia/tracheoesophageal fistula Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 1.0000 condition_record_support_limited 20 0 0 Esophageal_atresia/tracheoesophageal_fistula 24 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture APC mondo_mondo_0858997_medgen_c0027667_orphanet_631251 Malignant tumor of unknown origin MONDO:MONDO:0858997,MedGen:C0027667,Orphanet:631251 1 1 1.0000 condition_record_support_limited 20 0 1 Malignant_tumor_of_unknown_origin 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC mondo_mondo_0009831_medgen_c0346647 Malignant tumor of pancreas MONDO:MONDO:0009831,MedGen:C0346647 1 1 1.0000 condition_record_support_limited 20 0 1 Malignant_tumor_of_pancreas 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC mondo_mondo_0007254_medgen_c0006142 Malignant tumor of breast MONDO:MONDO:0007254,MedGen:C0006142 1 1 1.0000 condition_record_support_limited 20 0 1 Malignant_tumor_of_breast 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC human_phenotype_ontology_hp_0005266_mondo_mondo_0005288_medgen_c0021846 Intestinal polyp Human_Phenotype_Ontology:HP:0005266,MONDO:MONDO:0005288,MedGen:C0021846 1 1 1.0000 condition_record_support_limited 20 0 1 Intestinal_polyp 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC human_phenotype_ontology_hp_0012183_medgen_c4023010 Hyperplastic colonic polyposis Human_Phenotype_Ontology:HP:0012183,MedGen:C4023010 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperplastic_colonic_polyposis 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC human_phenotype_ontology_hp_0004394_mondo_mondo_0008277_medgen_c0236048 Gastric polyposis Human_Phenotype_Ontology:HP:0004394,MONDO:MONDO:0008277,MedGen:C0236048 1 1 1.0000 condition_record_support_limited 20 0 1 Gastric_polyposis 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC human_phenotype_ontology_hp_0004783_medgen_c0578477 Duodenal polyposis Human_Phenotype_Ontology:HP:0004783,MedGen:C0578477 1 1 1.0000 condition_record_support_limited 20 0 1 Duodenal_polyposis 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC human_phenotype_ontology_hp_0030062_mondo_mondo_0018907_mesh_d003397_medgen_c0010276_orphanet_54595 Craniopharyngioma Human_Phenotype_Ontology:HP:0030062,MONDO:MONDO:0018907,MeSH:D003397,MedGen:C0010276,Orphanet:54595 1 1 1.0000 condition_record_support_limited 20 0 1 Craniopharyngioma 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC human_phenotype_ontology_hp_0100273_mondo_mondo_0005401_mesh_d003110_medgen_c0009375 Colonic neoplasm Human_Phenotype_Ontology:HP:0100273,MONDO:MONDO:0005401,MeSH:D003110,MedGen:C0009375 1 1 1.0000 condition_record_support_limited 20 0 1 Colonic_neoplasm 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC human_phenotype_ontology_hp_0040276_mondo_mondo_0002271_medgen_c0338106 Colon adenocarcinoma Human_Phenotype_Ontology:HP:0040276,MONDO:MONDO:0002271,MedGen:C0338106 1 1 1.0000 condition_record_support_limited 20 0 1 Colon_adenocarcinoma 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC mondo_mondo_0006096_medgen_c0349579 Atypical endometrial hyperplasia MONDO:MONDO:0006096,MedGen:C0349579 1 1 1.0000 condition_record_support_limited 20 0 1 Atypical_endometrial_hyperplasia 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC apc_related_polyposis APC-related polyposis . 1 1 1.0000 condition_record_support_limited 20 0 0 APC-related_polyposis 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC apc_associated_polyposis APC associated polyposis . 1 1 1.0000 condition_record_support_limited 20 0 1 APC_associated_polyposis 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APC medgen_c2673229 ADENOMATOUS POLYPOSIS COLI WITH CONGENITAL CHOLESTEATOMA MedGen:C2673229 1 1 1.0000 condition_record_support_limited 20 0 1 ADENOMATOUS_POLYPOSIS_COLI_WITH_CONGENITAL_CHOLESTEATOMA 2556 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control APBB1 autosomal_recessive_smpd1_related_disorders autosomal recessive SMPD1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 autosomal_recessive_SMPD1-related_disorders 2 low_record_burden_interpretation_limited low_record_burden_gene APBB1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 2 low_record_burden_interpretation_limited low_record_burden_gene AP5Z1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP5B1 ap5b1_associated_macular_dystrophy AP5B1-associated macular dystrophy . 1 1 1.0000 condition_record_support_limited 20 0 0 AP5B1-associated_macular_dystrophy 4 low_record_burden_interpretation_limited low_record_burden_gene AP4S1 spastic_paraplegia_52 Spastic Paraplegia 52 MedGen:CN230088 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_Paraplegia_52 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4S1 aps41_related_disorder APS41-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 APS41-related_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4M1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4M1 human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Hypoplasia of the corpus callosum Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplasia_of_the_corpus_callosum 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4M1 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4M1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4M1 human_phenotype_ontology_hp_0003429_medgen_c4025616 CNS hypomyelination Human_Phenotype_Ontology:HP:0003429,MedGen:C4025616 1 1 1.0000 condition_record_support_limited 20 0 1 CNS_hypomyelination 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4M1 human_phenotype_ontology_hp_0012444_medgen_c4551584 Brain atrophy Human_Phenotype_Ontology:HP:0012444,MedGen:C4551584 1 1 1.0000 condition_record_support_limited 20 0 1 Brain_atrophy 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4M1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4M1 mondo_mondo_0100176_medgen_c4755264_orphanet_280763 AP-4 deficiency syndrome MONDO:MONDO:0100176,MedGen:C4755264,Orphanet:280763 1 1 1.0000 condition_record_support_limited 20 0 1 AP-4_deficiency_syndrome 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4E1 gene_100049541_mondo_mondo_0008483_medgen_c3489627_omim_184450 Stuttering, familial persistent, 1 Gene:100049541,MONDO:MONDO:0008483,MedGen:C3489627,OMIM:184450 1 1 1.0000 condition_record_support_limited 20 0 0 Stuttering,_familial_persistent,_1 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4E1 human_phenotype_ontology_hp_0025268_medgen_c0038506 Stuttering Human_Phenotype_Ontology:HP:0025268,MedGen:C0038506 1 1 1.0000 condition_record_support_limited 20 0 1 Stuttering 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4E1 medgen_c0008073 Developmental disorder MedGen:C0008073 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_disorder 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4E1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4E1 ap4e1_related_disorder AP4E1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 AP4E1-related_disorder 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4E1 mondo_mondo_0011783_medgen_c2931001_omim_607143_orphanet_79324 ALG12-congenital disorder of glycosylation MONDO:MONDO:0011783,MedGen:C2931001,OMIM:607143,Orphanet:79324 1 1 1.0000 condition_record_support_limited 20 0 1 ALG12-congenital_disorder_of_glycosylation 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4B1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4B1 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP4B1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 62 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP3D1 mondo_mondo_0014885_medgen_c4310746_omim_617050_orphanet_664511 Hermansky-Pudlak syndrome 10 MONDO:MONDO:0014885,MedGen:C4310746,OMIM:617050,Orphanet:664511 1 1 1.0000 condition_record_support_limited 20 0 0 Hermansky-Pudlak_syndrome_10 1 low_record_burden_interpretation_limited low_record_burden_gene AP3B1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP3B1 mondo_mondo_0019751_medgen_c3890737_orphanet_93665 Autoinflammatory syndrome MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665 1 1 1.0000 condition_record_support_limited 20 0 1 Autoinflammatory_syndrome 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP3B1 ap3b1_related_disorder AP3B1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 AP3B1-related_disorder 73 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP2S1 familial_hyperparathyroidism_or_hypocalciuric_hypercalcaemia Familial hyperparathyroidism or Hypocalciuric hypercalcaemia . 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_hyperparathyroidism_or_Hypocalciuric_hypercalcaemia 3 low_record_burden_interpretation_limited low_record_burden_gene AP2M1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene AP2M1 mondo_mondo_0032823_medgen_c5231497_omim_618587 Intellectual developmental disorder 60 with seizures MONDO:MONDO:0032823,MedGen:C5231497,OMIM:618587 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_developmental_disorder_60_with_seizures 1 low_record_burden_interpretation_limited low_record_burden_gene AP2M1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 1 low_record_burden_interpretation_limited low_record_burden_gene AP1S2 mondo_mondo_0020119_medgen_cn228426_omim_ps309510 X-linked syndromic intellectual disability MONDO:MONDO:0020119,MedGen:CN228426,OMIM:PS309510 1 1 1.0000 condition_record_support_limited 20 0 0 X-linked_syndromic_intellectual_disability 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP1S2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP1S2 mondo_mondo_0019428_medgen_c4305134_orphanet_85335 Fried syndrome MONDO:MONDO:0019428,MedGen:C4305134,Orphanet:85335 1 1 1.0000 condition_record_support_limited 20 0 1 Fried_syndrome 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP1S1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 9 low_record_burden_interpretation_limited low_record_burden_gene AP1S1 ap1s1_related_disorder AP1S1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 AP1S1-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene AP1G2 human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Esophageal atresia/tracheoesophageal fistula Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 1.0000 condition_record_support_limited 20 0 0 Esophageal_atresia/tracheoesophageal_fistula 1 low_record_burden_interpretation_limited low_record_burden_gene AP1G1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AP1B1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 12 low_record_burden_interpretation_limited low_record_burden_gene AP1B1 ap1b1_related_disorder AP1B1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 AP1B1-related_disorder 12 low_record_burden_interpretation_limited low_record_burden_gene AOPEP mondo_mondo_0009215_medgen_c3469521_omim_227650_orphanet_84 Fanconi anemia complementation group A MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84 1 1 1.0000 condition_record_support_limited 20 0 1 Fanconi_anemia_complementation_group_A 191 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AOPEP mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 1 1 1.0000 condition_record_support_limited 20 0 1 Carcinoma_of_colon 191 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AOPEP aopep_related_disorder AOPEP-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 AOPEP-related_disorder 191 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANXA7 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene ANXA11 mondo_mondo_0958176_medgen_cn376802_omim_164300 Oculopharyngeal muscular dystrophy 1 MONDO:MONDO:0958176,MedGen:CN376802,OMIM:164300 1 1 1.0000 condition_record_support_limited 20 0 0 Oculopharyngeal_muscular_dystrophy_1 6 low_record_burden_interpretation_limited low_record_burden_gene ANXA11 mondo_mondo_0850514_medgen_c5676909_omim_619733 Inclusion body myopathy and brain white matter abnormalities MONDO:MONDO:0850514,MedGen:C5676909,OMIM:619733 1 1 1.0000 condition_record_support_limited 20 0 1 Inclusion_body_myopathy_and_brain_white_matter_abnormalities 6 low_record_burden_interpretation_limited low_record_burden_gene ANXA11 human_phenotype_ontology_hp_0007354_mondo_mondo_0004976_medgen_c0002736_orphanet_803 Amyotrophic lateral sclerosis Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803 1 1 1.0000 condition_record_support_limited 20 0 1 Amyotrophic_lateral_sclerosis 6 low_record_burden_interpretation_limited low_record_burden_gene ANTXR2 mondo_mondo_0016071_medgen_c2745948_orphanet_2028 Juvenile hyaline fibromatosis MONDO:MONDO:0016071,MedGen:C2745948,Orphanet:2028 1 1 1.0000 condition_record_support_limited 20 0 1 Juvenile_hyaline_fibromatosis 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANTXR2 antxr2_related_disorder ANTXR2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ANTXR2-related_disorder 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANTXR1 antxr1_related_disorder ANTXR1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ANTXR1-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene ANOS1 mondo_mondo_8000008_medgen_c5542298_omim_212720_orphanet_1387 Martsolf syndrome 1 MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720,Orphanet:1387 1 1 1.0000 condition_record_support_limited 20 0 1 Martsolf_syndrome_1 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANOS1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANOS1 mondo_mondo_0007794_medgen_c0342384_omim_146110_orphanet_432 Hypogonadotropic hypogonadism 7 with or without anosmia MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432 1 1 1.0000 condition_record_support_limited 20 0 1 Hypogonadotropic_hypogonadism_7_with_or_without_anosmia 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANOS1 human_phenotype_ontology_hp_0000823_human_phenotype_ontology_hp_0008859_human_phenotype_ontology_hp_0010466_human_phenotype_ontology_hp_0010467_medgen_c0034012 Delayed puberty Human_Phenotype_Ontology:HP:0000823,Human_Phenotype_Ontology:HP:0008859,Human_Phenotype_Ontology:HP:0010466,Human_Phenotype_Ontology:HP:0010467,MedGen:C0034012 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_puberty 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANOS1 anos1_related_disorder ANOS1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ANOS1-related_disorder 95 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO6 mondo_mondo_0014085_medgen_c3554691_omim_615219_orphanet_2185 Hydrocephalus, nonsyndromic, autosomal recessive 2 MONDO:MONDO:0014085,MedGen:C3554691,OMIM:615219,Orphanet:2185 1 1 1.0000 condition_record_support_limited 20 0 0 Hydrocephalus,_nonsyndromic,_autosomal_recessive_2 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO5 human_phenotype_ontology_hp_0000113_human_phenotype_ontology_hp_0004716_human_phenotype_ontology_hp_0004739_human_phenotype_ontology_hp_0004740_human_phenotype_ontology_hp_0008645_human_phenotype_ontology_hp_0008673_human_phenotype_ontology_hp_0008699_mondo_mondo_0020642_mesh_d007690_medgen_c0022680_omim_ps173900 Polycystic kidney disease Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900 1 1 1.0000 condition_record_support_limited 20 0 1 Polycystic_kidney_disease 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO5 human_phenotype_ontology_hp_0003544_human_phenotype_ontology_hp_0003560_human_phenotype_ontology_hp_0003806_human_phenotype_ontology_hp_0007081_mondo_mondo_0020121_mesh_d009136_medgen_c0026850_orphanet_98473 Muscular dystrophy Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473 1 1 1.0000 condition_record_support_limited 20 0 1 Muscular_dystrophy 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO5 human_phenotype_ontology_hp_0002065_human_phenotype_ontology_hp_0002477_human_phenotype_ontology_hp_0007340_human_phenotype_ontology_hp_0009047_medgen_c1836296 Lower limb muscle weakness Human_Phenotype_Ontology:HP:0002065,Human_Phenotype_Ontology:HP:0002477,Human_Phenotype_Ontology:HP:0007340,Human_Phenotype_Ontology:HP:0009047,MedGen:C1836296 1 1 1.0000 condition_record_support_limited 20 0 1 Lower_limb_muscle_weakness 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO5 human_phenotype_ontology_hp_0007210_medgen_c4024921 Lower limb amyotrophy Human_Phenotype_Ontology:HP:0007210,MedGen:C4024921 1 1 1.0000 condition_record_support_limited 20 0 1 Lower_limb_amyotrophy 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO5 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO5 human_phenotype_ontology_hp_0005973_mondo_mondo_0009249_medgen_c0016751_omim_229600_orphanet_469 Hereditary fructosuria Human_Phenotype_Ontology:HP:0005973,MONDO:MONDO:0009249,MedGen:C0016751,OMIM:229600,Orphanet:469 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_fructosuria 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO5 human_phenotype_ontology_hp_0012548_medgen_c4021082 Fatty replacement of skeletal muscle Human_Phenotype_Ontology:HP:0012548,MedGen:C4021082 1 1 1.0000 condition_record_support_limited 20 0 1 Fatty_replacement_of_skeletal_muscle 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO5 human_phenotype_ontology_hp_0002460_human_phenotype_ontology_hp_0002598_human_phenotype_ontology_hp_0002935_human_phenotype_ontology_hp_0003497_human_phenotype_ontology_hp_0006940_human_phenotype_ontology_hp_0009008_medgen_c0427065 Distal muscle weakness Human_Phenotype_Ontology:HP:0002460,Human_Phenotype_Ontology:HP:0002598,Human_Phenotype_Ontology:HP:0002935,Human_Phenotype_Ontology:HP:0003497,Human_Phenotype_Ontology:HP:0006940,Human_Phenotype_Ontology:HP:0009008,MedGen:C0427065 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_muscle_weakness 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO5 human_phenotype_ontology_hp_0008942_medgen_c3807306 Acute rhabdomyolysis Human_Phenotype_Ontology:HP:0008942,MedGen:C3807306 1 1 1.0000 condition_record_support_limited 20 0 1 Acute_rhabdomyolysis 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO5 human_phenotype_ontology_hp_0001771_human_phenotype_ontology_hp_0004711_human_phenotype_ontology_hp_0005031_human_phenotype_ontology_hp_0006430_medgen_c0410264 Achilles tendon contracture Human_Phenotype_Ontology:HP:0001771,Human_Phenotype_Ontology:HP:0004711,Human_Phenotype_Ontology:HP:0005031,Human_Phenotype_Ontology:HP:0006430,MedGen:C0410264 1 1 1.0000 condition_record_support_limited 20 0 1 Achilles_tendon_contracture 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO5 ano5_related_muscular_dystrophy ANO5-related muscular dystrophy . 1 1 1.0000 condition_record_support_limited 20 0 1 ANO5-related_muscular_dystrophy 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO5 ano5_muscle_disease ANO5 Muscle Disease . 1 1 1.0000 condition_record_support_limited 20 0 1 ANO5_Muscle_Disease 183 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO4 mondo_mondo_0005115_medgen_c0014556_omim_ps600512_orphanet_98819 Temporal lobe epilepsy MONDO:MONDO:0005115,MedGen:C0014556,OMIM:PS600512,Orphanet:98819 1 1 1.0000 condition_record_support_limited 20 0 0 Temporal_lobe_epilepsy 7 low_record_burden_interpretation_limited low_record_burden_gene ANO4 mondo_mondo_0018214_medgen_c3502809_omim_ps604233_orphanet_36387 Generalized epilepsy with febrile seizures plus MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233,Orphanet:36387 1 1 1.0000 condition_record_support_limited 20 0 0 Generalized_epilepsy_with_febrile_seizures_plus 7 low_record_burden_interpretation_limited low_record_burden_gene ANO10 mondo_mondo_0015244_medgen_c5575375_omim_ps213200_orphanet_1172 Autosomal recessive cerebellar ataxia MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200,Orphanet:1172 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_cerebellar_ataxia 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO10 human_phenotype_ontology_hp_0011442_medgen_c4023354 Abnormal central motor function Human_Phenotype_Ontology:HP:0011442,MedGen:C4023354 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_central_motor_function 78 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ANO1 ano1_related_fatal_neonatal_disease_due_to_impaired_chloride_currents ANO1-related fatal neonatal disease due to impaired chloride currents . 1 1 1.0000 condition_record_support_limited 20 0 0 ANO1-related_fatal_neonatal_disease_due_to_impaired_chloride_currents 3 low_record_burden_interpretation_limited low_record_burden_gene ANLN condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene ANKS3 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 1 low_record_burden_interpretation_limited low_record_burden_gene ANKS1B condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene ANKRD44 mondo_mondo_0014995_medgen_c4310643_omim_617268 Neurodevelopmental disorder with hypotonia, seizures, and absent language MONDO:MONDO:0014995,MedGen:C4310643,OMIM:617268 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder_with_hypotonia,_seizures,_and_absent_language 1 low_record_burden_interpretation_limited low_record_burden_gene ANKRD37 human_phenotype_ontology_hp_0001385_human_phenotype_ontology_hp_0008787_mondo_mondo_0000158_medgen_c4551649_omim_ps142700 Developmental dysplasia of the hip Human_Phenotype_Ontology:HP:0001385,Human_Phenotype_Ontology:HP:0008787,MONDO:MONDO:0000158,MedGen:C4551649,OMIM:PS142700 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_dysplasia_of_the_hip 2 low_record_burden_interpretation_limited low_record_burden_gene ANKRD37 cerebral_visual_impairment_and_intellectual_disability Cerebral visual impairment and intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_visual_impairment_and_intellectual_disability 2 low_record_burden_interpretation_limited low_record_burden_gene ANKRD31 mondo_mondo_0019852_medgen_c2930861_omim_ps311360_orphanet_95710 Inherited primary ovarian failure MONDO:MONDO:0019852,MedGen:C2930861,OMIM:PS311360,Orphanet:95710 1 1 1.0000 condition_record_support_limited 20 0 0 Inherited_primary_ovarian_failure 3 low_record_burden_interpretation_limited low_record_burden_gene ANKRD26 mondo_mondo_0000009_mesh_d001791_medgen_c0005818_omim_ps231200_orphanet_248326 Inherited bleeding disorder, platelet-type MONDO:MONDO:0000009,MeSH:D001791,MedGen:C0005818,OMIM:PS231200,Orphanet:248326 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_bleeding_disorder,_platelet-type 13 low_record_burden_interpretation_limited low_record_burden_gene ANKRD26 mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer-predisposing_syndrome 13 low_record_burden_interpretation_limited low_record_burden_gene ANKRD26 ankrd26_related_disorder ANKRD26-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ANKRD26-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene ANKRD24 medgen_c0236038 Hereditary hearing loss and deafness MedGen:C0236038 1 1 1.0000 condition_record_support_limited 20 0 0 Hereditary_hearing_loss_and_deafness 1 low_record_burden_interpretation_limited low_record_burden_gene ANKRD17 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 46 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD17 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 46 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0000424_human_phenotype_ontology_hp_0000431_human_phenotype_ontology_hp_0004500_human_phenotype_ontology_hp_0004504_human_phenotype_ontology_hp_0004650_human_phenotype_ontology_hp_0200139_medgen_c1849367 Wide nasal bridge Human_Phenotype_Ontology:HP:0000424,Human_Phenotype_Ontology:HP:0000431,Human_Phenotype_Ontology:HP:0004500,Human_Phenotype_Ontology:HP:0004504,Human_Phenotype_Ontology:HP:0004650,Human_Phenotype_Ontology:HP:0200139,MedGen:C1849367 1 1 1.0000 condition_record_support_limited 20 0 1 Wide_nasal_bridge 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0012741_medgen_c0431664 Unilateral cryptorchidism Human_Phenotype_Ontology:HP:0012741,MedGen:C0431664 1 1 1.0000 condition_record_support_limited 20 0 1 Unilateral_cryptorchidism 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 mondo_mondo_1010117_medgen_c3827273 Sudden unexplained death in childhood MONDO:MONDO:1010117,MedGen:C3827273 1 1 1.0000 condition_record_support_limited 20 0 1 Sudden_unexplained_death_in_childhood 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0001165_human_phenotype_ontology_hp_0004279_medgen_c1843108 Short palm Human_Phenotype_Ontology:HP:0001165,Human_Phenotype_Ontology:HP:0004279,MedGen:C1843108 1 1 1.0000 condition_record_support_limited 20 0 1 Short_palm 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0001764_human_phenotype_ontology_hp_0001766_human_phenotype_ontology_hp_0001773_human_phenotype_ontology_hp_0001778_human_phenotype_ontology_hp_0008135_medgen_c1848673 Short foot Human_Phenotype_Ontology:HP:0001764,Human_Phenotype_Ontology:HP:0001766,Human_Phenotype_Ontology:HP:0001773,Human_Phenotype_Ontology:HP:0001778,Human_Phenotype_Ontology:HP:0008135,MedGen:C1848673 1 1 1.0000 condition_record_support_limited 20 0 1 Short_foot 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0000278_human_phenotype_ontology_hp_0002053_human_phenotype_ontology_hp_0002954_medgen_c0035353 Retrognathia Human_Phenotype_Ontology:HP:0000278,Human_Phenotype_Ontology:HP:0002053,Human_Phenotype_Ontology:HP:0002954,MedGen:C0035353 1 1 1.0000 condition_record_support_limited 20 0 1 Retrognathia 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0000508_mondo_mondo_0000728_medgen_c0005745 Ptosis Human_Phenotype_Ontology:HP:0000508,MONDO:MONDO:0000728,MedGen:C0005745 1 1 1.0000 condition_record_support_limited 20 0 1 Ptosis 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 monogenic_short_statue Monogenic short statue . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_short_statue 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 moderate_intellectual_deficiency Moderate intellectual deficiency . 1 1 1.0000 condition_record_support_limited 20 0 1 Moderate_intellectual_deficiency 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0000316_human_phenotype_ontology_hp_0000578_human_phenotype_ontology_hp_0002001_human_phenotype_ontology_hp_0004657_human_phenotype_ontology_hp_0007871_medgen_c0020534_omim_145400 Hypertelorism Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertelorism 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0000540_mondo_mondo_0004891_medgen_c0020490 Hypermetropia Human_Phenotype_Ontology:HP:0000540,MONDO:MONDO:0004891,MedGen:C0020490 1 1 1.0000 condition_record_support_limited 20 0 1 Hypermetropia 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0000565_mondo_mondo_0004896_medgen_c0014877 Esotropia Human_Phenotype_Ontology:HP:0000565,MONDO:MONDO:0004896,MedGen:C0014877 1 1 1.0000 condition_record_support_limited 20 0 1 Esotropia 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 mondo_mondo_0005027_mesh_d004827_medgen_c0014544 Epilepsy MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544 1 1 1.0000 condition_record_support_limited 20 0 1 Epilepsy 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0000286_human_phenotype_ontology_hp_0000624_human_phenotype_ontology_hp_0007930_medgen_c0678230_omim_131500 Epicanthus Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500 1 1 1.0000 condition_record_support_limited 20 0 1 Epicanthus 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 ebv_positive_nodal_t_and_nk_cell_lymphoma EBV-positive nodal T- and NK-cell lymphoma . 1 1 1.0000 condition_record_support_limited 20 0 1 EBV-positive_nodal_T-_and_NK-cell_lymphoma 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0000750_human_phenotype_ontology_hp_0002116_human_phenotype_ontology_hp_0002117_human_phenotype_ontology_hp_0002336_human_phenotype_ontology_hp_0002399_human_phenotype_ontology_hp_0002498_human_phenotype_ontology_hp_0006936_human_phenotype_ontology_hp_0007004_human_phenotype_ontology_hp_0007127_human_phenotype_ontology_hp_0007170_human_phenotype_ontology_hp_0007172_medgen_c0454644 Delayed speech and language development Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_speech_and_language_development 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0001875_human_phenotype_ontology_hp_0005515_human_phenotype_ontology_hp_0005533_mondo_mondo_0001475_medgen_c0853697 Decreased total neutrophil count Human_Phenotype_Ontology:HP:0001875,Human_Phenotype_Ontology:HP:0005515,Human_Phenotype_Ontology:HP:0005533,MONDO:MONDO:0001475,MedGen:C0853697 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_total_neutrophil_count 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0000028_human_phenotype_ontology_hp_0000797_mondo_mondo_0009047_medgen_c0010417_omim_219050 Cryptorchidism Human_Phenotype_Ontology:HP:0000028,Human_Phenotype_Ontology:HP:0000797,MONDO:MONDO:0009047,MedGen:C0010417,OMIM:219050 1 1 1.0000 condition_record_support_limited 20 0 1 Cryptorchidism 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0000367_human_phenotype_ontology_hp_0000405_human_phenotype_ontology_hp_0008581_mondo_mondo_0020679_medgen_c0018777 Conductive hearing impairment Human_Phenotype_Ontology:HP:0000367,Human_Phenotype_Ontology:HP:0000405,Human_Phenotype_Ontology:HP:0008581,MONDO:MONDO:0020679,MedGen:C0018777 1 1 1.0000 condition_record_support_limited 20 0 1 Conductive_hearing_impairment 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0001158_human_phenotype_ontology_hp_0001588_human_phenotype_ontology_hp_0004209_human_phenotype_ontology_hp_0004212_human_phenotype_ontology_hp_0006083_human_phenotype_ontology_hp_0006181_human_phenotype_ontology_hp_0009181_medgen_c1850049 Clinodactyly of the 5th finger Human_Phenotype_Ontology:HP:0001158,Human_Phenotype_Ontology:HP:0001588,Human_Phenotype_Ontology:HP:0004209,Human_Phenotype_Ontology:HP:0004212,Human_Phenotype_Ontology:HP:0006083,Human_Phenotype_Ontology:HP:0006181,Human_Phenotype_Ontology:HP:0009181,MedGen:C1850049 1 1 1.0000 condition_record_support_limited 20 0 1 Clinodactyly_of_the_5th_finger 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 chromatinopathy Chromatinopathy . 1 1 1.0000 condition_record_support_limited 20 0 0 Chromatinopathy 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0000483_mondo_mondo_0011284_medgen_c0004106_omim_603047 Astigmatism Human_Phenotype_Ontology:HP:0000483,MONDO:MONDO:0011284,MedGen:C0004106,OMIM:603047 1 1 1.0000 condition_record_support_limited 20 0 1 Astigmatism 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKRD11 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 652 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANKLE2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene ANKLE2 mondo_mondo_0800448_medgen_c1858991_omim_ps603896_orphanet_135_orphanet_99853 Vanishing white matter disease MONDO:MONDO:0800448,MedGen:C1858991,OMIM:PS603896,Orphanet:135,Orphanet:99853 1 1 1.0000 condition_record_support_limited 20 0 1 Vanishing_white_matter_disease 8 low_record_burden_interpretation_limited low_record_burden_gene ANKLE2 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 8 low_record_burden_interpretation_limited low_record_burden_gene ANKLE2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 8 low_record_burden_interpretation_limited low_record_burden_gene ANKLE2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 8 low_record_burden_interpretation_limited low_record_burden_gene ANKLE2 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 8 low_record_burden_interpretation_limited low_record_burden_gene ANKH medgen_c5681770_orphanet_101998 Rare epilepsy MedGen:C5681770,Orphanet:101998 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_epilepsy 14 low_record_burden_interpretation_limited low_record_burden_gene ANKH medgen_c4016917 CHONDROCALCINOSIS 2, SPORADIC MedGen:C4016917 1 1 1.0000 condition_record_support_limited 20 0 0 CHONDROCALCINOSIS_2,_SPORADIC 14 low_record_burden_interpretation_limited low_record_burden_gene ANKH mondo_mondo_0017615_medgen_c5575231_omim_ps601764_orphanet_306 Benign familial infantile epilepsy MONDO:MONDO:0017615,MedGen:C5575231,OMIM:PS601764,Orphanet:306 1 1 1.0000 condition_record_support_limited 20 0 1 Benign_familial_infantile_epilepsy 14 low_record_burden_interpretation_limited low_record_burden_gene ANKH ankh_related_disorder ANKH-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ANKH-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene ANK3 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANK3 mondo_mondo_0016712_medgen_c1707400_orphanet_251867 Classic medulloblastoma MONDO:MONDO:0016712,MedGen:C1707400,Orphanet:251867 1 1 1.0000 condition_record_support_limited 20 0 0 Classic_medulloblastoma 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANK3 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANK3 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_brain_morphology 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANK3 ank3_related_disorder ANK3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ANK3-related_disorder 29 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANK2 mondo_mondo_0100038_medgen_c5568766_orphanet_528084 Complex neurodevelopmental disorder MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084 1 1 1.0000 condition_record_support_limited 20 0 0 Complex_neurodevelopmental_disorder 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANK2 mondo_mondo_0015263_medgen_c1142166_omim_ps601144_orphanet_130 Brugada syndrome MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130 1 1 1.0000 condition_record_support_limited 20 0 0 Brugada_syndrome 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANK2 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANK2 ank2_associated_seizure_disorder ANK2-associated seizure disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ANK2-associated_seizure_disorder 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANK2 ank_related_autism_spectrum_disorder_and_epilepsy ANK-related Autism spectrum disorder and epilepsy . 1 1 1.0000 condition_record_support_limited 20 0 0 ANK-related_Autism_spectrum_disorder_and_epilepsy 90 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANK1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 497 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ANGPTL3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 14 low_record_burden_interpretation_limited low_record_burden_gene ANGPTL3 mondo_mondo_0014371_medgen_c4014492_omim_615859_orphanet_411986 Developmental and epileptic encephalopathy, 23 MONDO:MONDO:0014371,MedGen:C4014492,OMIM:615859,Orphanet:411986 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_23 14 low_record_burden_interpretation_limited low_record_burden_gene ANGPTL3 angptl3_related_disorder ANGPTL3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ANGPTL3-related_disorder 14 low_record_burden_interpretation_limited low_record_burden_gene ANAPC7 mondo_mondo_0859220_medgen_c5562065_omim_619699 Ferguson-Bonni neurodevelopmental syndrome MONDO:MONDO:0859220,MedGen:C5562065,OMIM:619699 1 1 1.0000 condition_record_support_limited 20 0 0 Ferguson-Bonni_neurodevelopmental_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene ANAPC15 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 8 low_record_burden_interpretation_limited low_record_burden_gene AMTN mondo_mondo_0021547_medgen_c4539891_omim_617607 Amelogenesis imperfecta type 3B MONDO:MONDO:0021547,MedGen:C4539891,OMIM:617607 1 1 1.0000 condition_record_support_limited 20 0 0 Amelogenesis_imperfecta_type_3B 1 low_record_burden_interpretation_limited low_record_burden_gene AMT human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMPD3 ampd3_related_disorder AMPD3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 AMPD3-related_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene AMPD2 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMPD2 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 49 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMOTL1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene AMOT cerebral_visual_impairment_and_intellectual_disability Cerebral visual impairment and intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_visual_impairment_and_intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene AMN human_phenotype_ontology_hp_0001889_human_phenotype_ontology_hp_0004858_mondo_mondo_0001700_medgen_c0002888 Megaloblastic anemia Human_Phenotype_Ontology:HP:0001889,Human_Phenotype_Ontology:HP:0004858,MONDO:MONDO:0001700,MedGen:C0002888 1 1 1.0000 condition_record_support_limited 20 0 1 Megaloblastic_anemia 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMN human_phenotype_ontology_hp_0100502_mondo_mondo_0020696_medgen_c0042847 Cobalamin deficiency Human_Phenotype_Ontology:HP:0100502,MONDO:MONDO:0020696,MedGen:C0042847 1 1 1.0000 condition_record_support_limited 20 0 1 Cobalamin_deficiency 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMN amn_related_disorder AMN-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 AMN-related_disorder 75 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMMECR1 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 14 low_record_burden_interpretation_limited low_record_burden_gene AMMECR1 human_phenotype_ontology_hp_0000121_mondo_mondo_0001567_medgen_c0027709 Nephrocalcinosis Human_Phenotype_Ontology:HP:0000121,MONDO:MONDO:0001567,MedGen:C0027709 1 1 1.0000 condition_record_support_limited 20 0 0 Nephrocalcinosis 14 low_record_burden_interpretation_limited low_record_burden_gene AMHR2 human_phenotype_ontology_hp_0000037_mesh_d058490_medgen_c0238395 Male pseudohermaphroditism Human_Phenotype_Ontology:HP:0000037,MeSH:D058490,MedGen:C0238395 1 1 1.0000 condition_record_support_limited 20 0 1 Male_pseudohermaphroditism 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMHR2 differences_in_sex_development Differences in sex development . 1 1 1.0000 condition_record_support_limited 20 0 1 Differences_in_sex_development 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMHR2 amhr2_related_disorder AMHR2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 AMHR2-related_disorder 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMH medgen_c5925042_orphanet_485382 Genetic non-acquired premature ovarian failure MedGen:C5925042,Orphanet:485382 1 1 1.0000 condition_record_support_limited 20 0 0 Genetic_non-acquired_premature_ovarian_failure 30 compact_adjacent_exon_block_opportunity local_compact_architecture AMFR condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene AMER3 human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Esophageal atresia/tracheoesophageal fistula Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 1.0000 condition_record_support_limited 20 0 0 Esophageal_atresia/tracheoesophageal_fistula 1 low_record_burden_interpretation_limited low_record_burden_gene AMER1 human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Cleft palate Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 1.0000 condition_record_support_limited 20 0 1 Cleft_palate 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMER1 amer1_related_disorder AMER1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 AMER1-related_disorder 45 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AMELX amelx_related_disorder AMELX-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 AMELX-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene AMDHD2 mondo_mondo_0020072_medgen_c5681526_orphanet_98259 Childhood-onset epilepsy syndrome MONDO:MONDO:0020072,MedGen:C5681526,Orphanet:98259 1 1 1.0000 condition_record_support_limited 20 0 0 Childhood-onset_epilepsy_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene AMBN condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene AMACR autosomal_recessive_amacr_related_disorders Autosomal recessive AMACR-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_AMACR-related_disorders 4 low_record_burden_interpretation_limited low_record_burden_gene AMACR mondo_mondo_0013681_medgen_c3280428_omim_614307_orphanet_79095 Alpha-methylacyl-CoA racemase deficiency MONDO:MONDO:0013681,MedGen:C3280428,OMIM:614307,Orphanet:79095 1 1 1.0000 condition_record_support_limited 20 0 1 Alpha-methylacyl-CoA_racemase_deficiency 4 low_record_burden_interpretation_limited low_record_burden_gene AMACR amacr_related_disorder AMACR-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 AMACR-related_disorder 4 low_record_burden_interpretation_limited low_record_burden_gene ALX4 mondo_mondo_0044700_medgen_c4310804_omim_613406_orphanet_500166_orphanet_94065 SIN3A-related intellectual disability syndrome due to a point mutation MONDO:MONDO:0044700,MedGen:C4310804,OMIM:613406,Orphanet:500166,Orphanet:94065 1 1 1.0000 condition_record_support_limited 20 0 0 SIN3A-related_intellectual_disability_syndrome_due_to_a_point_mutation 21 compact_adjacent_exon_block_opportunity local_compact_architecture ALX4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 21 compact_adjacent_exon_block_opportunity local_compact_architecture ALX3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 10 low_record_burden_interpretation_limited low_record_burden_gene ALS2 human_phenotype_ontology_hp_0001257_medgen_c0026838 Spasticity Human_Phenotype_Ontology:HP:0001257,MedGen:C0026838 1 1 1.0000 condition_record_support_limited 20 0 1 Spasticity 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALS2 human_phenotype_ontology_hp_0002451_medgen_c0751093 Limb dystonia Human_Phenotype_Ontology:HP:0002451,MedGen:C0751093 1 1 1.0000 condition_record_support_limited 20 0 1 Limb_dystonia 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALS2 mondo_mondo_0017593_medgen_c3468114_orphanet_300605 Juvenile amyotrophic lateral sclerosis MONDO:MONDO:0017593,MedGen:C3468114,Orphanet:300605 1 1 1.0000 condition_record_support_limited 20 0 1 Juvenile_amyotrophic_lateral_sclerosis 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALS2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALS2 human_phenotype_ontology_hp_0002375_human_phenotype_ontology_hp_0002603_human_phenotype_ontology_hp_0006795_medgen_c0086439 Hypokinesia Human_Phenotype_Ontology:HP:0002375,Human_Phenotype_Ontology:HP:0002603,Human_Phenotype_Ontology:HP:0006795,MedGen:C0086439 1 1 1.0000 condition_record_support_limited 20 0 1 Hypokinesia 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALS2 human_phenotype_ontology_hp_0003231_medgen_c1879362 Hypertyrosinemia Human_Phenotype_Ontology:HP:0003231,MedGen:C1879362 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertyrosinemia 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALS2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALS2 human_phenotype_ontology_hp_0002500_human_phenotype_ontology_hp_0200100_medgen_c0948163 Abnormal cerebral white matter morphology Human_Phenotype_Ontology:HP:0002500,Human_Phenotype_Ontology:HP:0200100,MedGen:C0948163 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_cerebral_white_matter_morphology 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALS2 mondo_mondo_0100227_medgen_cn323278 ALS2-related motor neuron disease MONDO:MONDO:0100227,MedGen:CN323278 1 1 1.0000 condition_record_support_limited 20 0 1 ALS2-related_motor_neuron_disease 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALS2 als2_related_disorder ALS2-related disorder MedGen:CN169291 1 1 1.0000 condition_record_support_limited 20 0 0 ALS2-related_disorder 119 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALPL human_phenotype_ontology_hp_0002983_human_phenotype_ontology_hp_0003030_human_phenotype_ontology_hp_0005753_medgen_c0025995 Micromelia Human_Phenotype_Ontology:HP:0002983,Human_Phenotype_Ontology:HP:0003030,Human_Phenotype_Ontology:HP:0005753,MedGen:C0025995 1 1 1.0000 condition_record_support_limited 20 0 1 Micromelia 532 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALPL human_phenotype_ontology_hp_0002148_mondo_mondo_0000313_medgen_c0085682 Hypophosphatemia Human_Phenotype_Ontology:HP:0002148,MONDO:MONDO:0000313,MedGen:C0085682 1 1 1.0000 condition_record_support_limited 20 0 1 Hypophosphatemia 532 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALPL autosomal_dominant_and_autosomal_recessive_alpl_related_disorders Autosomal dominant and autosomal recessive ALPL-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_and_autosomal_recessive_ALPL-related_disorders 532 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALPL autosomal_dominant_alpl_related_disorders Autosomal dominant ALPL-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_ALPL-related_disorders 532 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALPL mondo_mondo_0010519_medgen_c1845055_omim_301040_orphanet_847 Alpha thalassemia-X-linked intellectual disability syndrome MONDO:MONDO:0010519,MedGen:C1845055,OMIM:301040,Orphanet:847 1 1 1.0000 condition_record_support_limited 20 0 1 Alpha_thalassemia-X-linked_intellectual_disability_syndrome 532 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALPL mondo_mondo_0100608_medgen_cn379220 ALPL-related autosomal dominant hypophosphatasia MONDO:MONDO:0100608,MedGen:CN379220 1 1 1.0000 condition_record_support_limited 20 0 1 ALPL-related_autosomal_dominant_hypophosphatasia 532 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALPK3 mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 Primary familial hypertrophic cardiomyopathy MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_familial_hypertrophic_cardiomyopathy 267 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALPK1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 3 low_record_burden_interpretation_limited low_record_burden_gene ALPK1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 3 low_record_burden_interpretation_limited low_record_burden_gene ALPK1 alpk1_related_disorder ALPK1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ALPK1-related_disorder 3 low_record_burden_interpretation_limited low_record_burden_gene ALPI condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene ALOXE3 human_phenotype_ontology_hp_0002807_human_phenotype_ontology_hp_0002948_human_phenotype_ontology_hp_0008471_human_phenotype_ontology_hp_0008485_medgen_c3278509 Vertebral fusion Human_Phenotype_Ontology:HP:0002807,Human_Phenotype_Ontology:HP:0002948,Human_Phenotype_Ontology:HP:0008471,Human_Phenotype_Ontology:HP:0008485,MedGen:C3278509 1 1 1.0000 condition_record_support_limited 20 0 1 Vertebral_fusion 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 mondo_mondo_0013818_medgen_c3281289_omim_614602_orphanet_84064 Trichohepatoenteric syndrome 2 MONDO:MONDO:0013818,MedGen:C3281289,OMIM:614602,Orphanet:84064 1 1 1.0000 condition_record_support_limited 20 0 1 Trichohepatoenteric_syndrome_2 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0003423_medgen_c1859335 Thoracolumbar kyphoscoliosis Human_Phenotype_Ontology:HP:0003423,MedGen:C1859335 1 1 1.0000 condition_record_support_limited 20 0 1 Thoracolumbar_kyphoscoliosis 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0002943_human_phenotype_ontology_hp_0004615_medgen_c1857790 Thoracic scoliosis Human_Phenotype_Ontology:HP:0002943,Human_Phenotype_Ontology:HP:0004615,MedGen:C1857790 1 1 1.0000 condition_record_support_limited 20 0 1 Thoracic_scoliosis 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0005659_medgen_c4015465 Thoracic kyphoscoliosis Human_Phenotype_Ontology:HP:0005659,MedGen:C4015465 1 1 1.0000 condition_record_support_limited 20 0 1 Thoracic_kyphoscoliosis 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0001182_human_phenotype_ontology_hp_0005795_human_phenotype_ontology_hp_0005800_human_phenotype_ontology_hp_0006032_human_phenotype_ontology_hp_0006080_human_phenotype_ontology_hp_0006098_human_phenotype_ontology_hp_0006111_human_phenotype_ontology_hp_0006125_human_phenotype_ontology_hp_0006244_human_phenotype_ontology_hp_0007532_medgen_c0426886 Tapered finger Human_Phenotype_Ontology:HP:0001182,Human_Phenotype_Ontology:HP:0005795,Human_Phenotype_Ontology:HP:0005800,Human_Phenotype_Ontology:HP:0006032,Human_Phenotype_Ontology:HP:0006080,Human_Phenotype_Ontology:HP:0006098,Human_Phenotype_Ontology:HP:0006111,Human_Phenotype_Ontology:HP:0006125,Human_Phenotype_Ontology:HP:0006244,Human_Phenotype_Ontology:HP:0007532,MedGen:C0426886 1 1 1.0000 condition_record_support_limited 20 0 1 Tapered_finger 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0002652_human_phenotype_ontology_hp_0005685_mondo_mondo_0018230_medgen_c0410528_orphanet_364526 Skeletal dysplasia Human_Phenotype_Ontology:HP:0002652,Human_Phenotype_Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526 1 1 1.0000 condition_record_support_limited 20 0 1 Skeletal_dysplasia 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0000470_human_phenotype_ontology_hp_0005992_human_phenotype_ontology_hp_0200137_medgen_c0521525 Short neck Human_Phenotype_Ontology:HP:0000470,Human_Phenotype_Ontology:HP:0005992,Human_Phenotype_Ontology:HP:0200137,MedGen:C0521525 1 1 1.0000 condition_record_support_limited 20 0 1 Short_neck 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0001525_human_phenotype_ontology_hp_0008876_medgen_c1855514 Severe failure to thrive Human_Phenotype_Ontology:HP:0001525,Human_Phenotype_Ontology:HP:0008876,MedGen:C1855514 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_failure_to_thrive 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0002650_human_phenotype_ontology_hp_0002770_human_phenotype_ontology_hp_0003303_human_phenotype_ontology_hp_0003317_human_phenotype_ontology_hp_0003415_mondo_mondo_0005392_medgen_c0036439 Scoliosis Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439 1 1 1.0000 condition_record_support_limited 20 0 1 Scoliosis 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0000253_medgen_c1850456 Progressive microcephaly Human_Phenotype_Ontology:HP:0000253,MedGen:C1850456 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_microcephaly 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0008458_medgen_c1857025 Progressive congenital scoliosis Human_Phenotype_Ontology:HP:0008458,MedGen:C1857025 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_congenital_scoliosis 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0008443_medgen_c5702564 Neuropathic spinal arthropathy Human_Phenotype_Ontology:HP:0008443,MedGen:C5702564 1 1 1.0000 condition_record_support_limited 20 0 1 Neuropathic_spinal_arthropathy 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0001653_mondo_mondo_1030008_medgen_c0026266 Mitral regurgitation Human_Phenotype_Ontology:HP:0001653,MONDO:MONDO:1030008,MedGen:C0026266 1 1 1.0000 condition_record_support_limited 20 0 1 Mitral_regurgitation 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0032059_medgen_c4732830 Mild malformation of cortical development Human_Phenotype_Ontology:HP:0032059,MedGen:C4732830 1 1 1.0000 condition_record_support_limited 20 0 1 Mild_malformation_of_cortical_development 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0011342_medgen_c4012968 Mild global developmental delay Human_Phenotype_Ontology:HP:0011342,MedGen:C4012968 1 1 1.0000 condition_record_support_limited 20 0 1 Mild_global_developmental_delay 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0004619_medgen_c1834953 Lumbar kyphoscoliosis Human_Phenotype_Ontology:HP:0004619,MedGen:C1834953 1 1 1.0000 condition_record_support_limited 20 0 1 Lumbar_kyphoscoliosis 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0002148_mondo_mondo_0000313_medgen_c0085682 Hypophosphatemia Human_Phenotype_Ontology:HP:0002148,MONDO:MONDO:0000313,MedGen:C0085682 1 1 1.0000 condition_record_support_limited 20 0 1 Hypophosphatemia 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0002937_medgen_c0265677 Hemivertebrae Human_Phenotype_Ontology:HP:0002937,MedGen:C0265677 1 1 1.0000 condition_record_support_limited 20 0 1 Hemivertebrae 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0001531_human_phenotype_ontology_hp_0008863_human_phenotype_ontology_hp_0008925_medgen_c1867873 Failure to thrive in infancy Human_Phenotype_Ontology:HP:0001531,Human_Phenotype_Ontology:HP:0008863,Human_Phenotype_Ontology:HP:0008925,MedGen:C1867873 1 1 1.0000 condition_record_support_limited 20 0 1 Failure_to_thrive_in_infancy 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0003498_human_phenotype_ontology_hp_0008895_human_phenotype_ontology_hp_0008900_medgen_c0878659 Disproportionate short stature Human_Phenotype_Ontology:HP:0003498,Human_Phenotype_Ontology:HP:0008895,Human_Phenotype_Ontology:HP:0008900,MedGen:C0878659 1 1 1.0000 condition_record_support_limited 20 0 1 Disproportionate_short_stature 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0010862_medgen_c4023681 Delayed fine motor development Human_Phenotype_Ontology:HP:0010862,MedGen:C4023681 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_fine_motor_development 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0031936_medgen_c0241726 Delayed ability to walk Human_Phenotype_Ontology:HP:0031936,MedGen:C0241726 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_ability_to_walk 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0025335_medgen_c4476709 Delayed ability to stand Human_Phenotype_Ontology:HP:0025335,MedGen:C4476709 1 1 1.0000 condition_record_support_limited 20 0 1 Delayed_ability_to_stand 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0001823_human_phenotype_ontology_hp_0001826_human_phenotype_ontology_hp_0004325_medgen_c5574742 Decreased body weight Human_Phenotype_Ontology:HP:0001823,Human_Phenotype_Ontology:HP:0001826,Human_Phenotype_Ontology:HP:0004325,MedGen:C5574742 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_body_weight 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0001021_human_phenotype_ontology_hp_0007388_human_phenotype_ontology_hp_0007479_human_phenotype_ontology_hp_0007512_human_phenotype_ontology_hp_0007619_human_phenotype_ontology_hp_0007625_mondo_mondo_0019306_medgen_c0079154_orphanet_79394 Congenital nonbullous ichthyosiform erythroderma Human_Phenotype_Ontology:HP:0001021,Human_Phenotype_Ontology:HP:0007388,Human_Phenotype_Ontology:HP:0007479,Human_Phenotype_Ontology:HP:0007512,Human_Phenotype_Ontology:HP:0007619,Human_Phenotype_Ontology:HP:0007625,MONDO:MONDO:0019306,MedGen:C0079154,Orphanet:79394 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_nonbullous_ichthyosiform_erythroderma 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0000912_human_phenotype_ontology_hp_0006621_mondo_mondo_0008482_medgen_c0152438_omim_184400_orphanet_3181 Congenital elevation of scapula Human_Phenotype_Ontology:HP:0000912,Human_Phenotype_Ontology:HP:0006621,MONDO:MONDO:0008482,MedGen:C0152438,OMIM:184400,Orphanet:3181 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_elevation_of_scapula 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0003522_human_phenotype_ontology_hp_0008922_medgen_c3148833 Childhood-onset short-trunk short stature Human_Phenotype_Ontology:HP:0003522,Human_Phenotype_Ontology:HP:0008922,MedGen:C3148833 1 1 1.0000 condition_record_support_limited 20 0 1 Childhood-onset_short-trunk_short_stature 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0000248_human_phenotype_ontology_hp_0002258_human_phenotype_ontology_hp_0004479_human_phenotype_ontology_hp_0008512_medgen_c0221356_orphanet_35099 Brachycephaly Human_Phenotype_Ontology:HP:0000248,Human_Phenotype_Ontology:HP:0002258,Human_Phenotype_Ontology:HP:0004479,Human_Phenotype_Ontology:HP:0008512,MedGen:C0221356,Orphanet:35099 1 1 1.0000 condition_record_support_limited 20 0 1 Brachycephaly 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOXE3 human_phenotype_ontology_hp_0003312_medgen_c1839326 Abnormal form of the vertebral bodies Human_Phenotype_Ontology:HP:0003312,MedGen:C1839326 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_form_of_the_vertebral_bodies 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOX12B human_phenotype_ontology_hp_0000955_human_phenotype_ontology_hp_0007547_human_phenotype_ontology_hp_0008064_mondo_mondo_0019269_medgen_c0020757_orphanet_79354 Ichthyosis Human_Phenotype_Ontology:HP:0000955,Human_Phenotype_Ontology:HP:0007547,Human_Phenotype_Ontology:HP:0008064,MONDO:MONDO:0019269,MedGen:C0020757,Orphanet:79354 1 1 1.0000 condition_record_support_limited 20 0 1 Ichthyosis 150 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOX12B human_phenotype_ontology_hp_0001021_human_phenotype_ontology_hp_0007388_human_phenotype_ontology_hp_0007479_human_phenotype_ontology_hp_0007512_human_phenotype_ontology_hp_0007619_human_phenotype_ontology_hp_0007625_mondo_mondo_0019306_medgen_c0079154_orphanet_79394 Congenital nonbullous ichthyosiform erythroderma Human_Phenotype_Ontology:HP:0001021,Human_Phenotype_Ontology:HP:0007388,Human_Phenotype_Ontology:HP:0007479,Human_Phenotype_Ontology:HP:0007512,Human_Phenotype_Ontology:HP:0007619,Human_Phenotype_Ontology:HP:0007625,MONDO:MONDO:0019306,MedGen:C0079154,Orphanet:79394 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_nonbullous_ichthyosiform_erythroderma 150 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALOX12B human_phenotype_ontology_hp_0007431_human_phenotype_ontology_hp_0007478_human_phenotype_ontology_hp_0007484_medgen_c0079583 Congenital ichthyosiform erythroderma Human_Phenotype_Ontology:HP:0007431,Human_Phenotype_Ontology:HP:0007478,Human_Phenotype_Ontology:HP:0007484,MedGen:C0079583 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_ichthyosiform_erythroderma 150 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALMS1 human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Visual impairment Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 1.0000 condition_record_support_limited 20 0 1 Visual_impairment 999 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALMS1 mondo_mondo_0019354_medgen_c0265253_omim_ps108300_orphanet_828 Stickler syndrome MONDO:MONDO:0019354,MedGen:C0265253,OMIM:PS108300,Orphanet:828 1 1 1.0000 condition_record_support_limited 20 0 1 Stickler_syndrome 999 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALMS1 human_phenotype_ontology_hp_0000101_human_phenotype_ontology_hp_0003774_human_phenotype_ontology_hp_0004720_human_phenotype_ontology_hp_0004725_human_phenotype_ontology_hp_0004733_human_phenotype_ontology_hp_0004738_human_phenotype_ontology_hp_0005570_mondo_mondo_0004375_medgen_c2316810 Stage 5 chronic kidney disease Human_Phenotype_Ontology:HP:0000101,Human_Phenotype_Ontology:HP:0003774,Human_Phenotype_Ontology:HP:0004720,Human_Phenotype_Ontology:HP:0004725,Human_Phenotype_Ontology:HP:0004733,Human_Phenotype_Ontology:HP:0004738,Human_Phenotype_Ontology:HP:0005570,MONDO:MONDO:0004375,MedGen:C2316810 1 1 1.0000 condition_record_support_limited 20 0 1 Stage_5_chronic_kidney_disease 999 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALMS1 human_phenotype_ontology_hp_0002415_human_phenotype_ontology_hp_0006926_human_phenotype_ontology_hp_0007079_mondo_mondo_0019046_medgen_c0023520_omim_ps312080_orphanet_68356 Leukodystrophy Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356 1 1 1.0000 condition_record_support_limited 20 0 1 Leukodystrophy 999 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALMS1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 999 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALMS1 human_phenotype_ontology_hp_0000548_mondo_mondo_0015993_medgen_c4085590_omim_ps120970_orphanet_1872 Cone-rod dystrophy Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy 999 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALMS1 alstr_m_syndrom Alström Syndrom . 1 1 1.0000 condition_record_support_limited 20 0 0 Alström_Syndrom 999 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALMS1 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_eye 999 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ALK condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 19 low_record_burden_interpretation_limited low_record_burden_gene ALK human_phenotype_ontology_hp_0002859_mondo_mondo_0005212_mesh_d012208_medgen_c0035412_orphanet_780 Rhabdomyosarcoma Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780 1 1 1.0000 condition_record_support_limited 20 0 0 Rhabdomyosarcoma 19 low_record_burden_interpretation_limited low_record_burden_gene ALK mondo_mondo_0008170_medgen_c1140680_omim_167000_orphanet_213500 Ovarian cancer MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500 1 1 1.0000 condition_record_support_limited 20 0 0 Ovarian_cancer 19 low_record_burden_interpretation_limited low_record_burden_gene ALK human_phenotype_ontology_hp_0003006_human_phenotype_ontology_hp_0006738_mondo_mondo_0005072_mesh_d009447_medgen_c0027819_orphanet_635 Neuroblastoma Human_Phenotype_Ontology:HP:0003006,Human_Phenotype_Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635 1 1 1.0000 condition_record_support_limited 20 0 0 Neuroblastoma 19 low_record_burden_interpretation_limited low_record_burden_gene ALK mondo_mondo_0015356_mesh_d009386_medgen_c0027672_orphanet_140162 Hereditary cancer-predisposing syndrome MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_cancer-predisposing_syndrome 19 low_record_burden_interpretation_limited low_record_burden_gene ALK alk_related_disorder ALK-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ALK-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene ALG9 mondo_mondo_0019741_medgen_c5680285_orphanet_93587 Familial cystic renal disease MONDO:MONDO:0019741,MedGen:C5680285,Orphanet:93587 1 1 1.0000 condition_record_support_limited 20 0 0 Familial_cystic_renal_disease 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG9 human_phenotype_ontology_hp_0006557_mondo_mondo_0000447_medgen_c0158683_omim_ps174050_orphanet_2924 Autosomal dominant polycystic liver disease Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_polycystic_liver_disease 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG9 mondo_mondo_0004691_medgen_c0085413_orphanet_730 Autosomal dominant polycystic kidney disease MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_dominant_polycystic_kidney_disease 36 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG8 cystic_renal_disease Cystic renal disease . 1 1 1.0000 condition_record_support_limited 20 0 1 Cystic_renal_disease 63 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 149 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG3 mondo_mondo_0015286_medgen_c0282577_orphanet_137 Congenital disorder of glycosylation MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_disorder_of_glycosylation 37 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG14 mondo_mondo_0014542_medgen_c4015596_omim_616227_orphanet_353327_orphanet_590 Congenital myasthenic syndrome 15 MONDO:MONDO:0014542,MedGen:C4015596,OMIM:616227,Orphanet:353327,Orphanet:590 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_myasthenic_syndrome_15 1 low_record_burden_interpretation_limited low_record_burden_gene ALG13 medgen_c5680527_orphanet_183757 Rare genetic intellectual disability MedGen:C5680527,Orphanet:183757 1 1 1.0000 condition_record_support_limited 20 0 1 Rare_genetic_intellectual_disability 11 low_record_burden_interpretation_limited low_record_burden_gene ALG13 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 11 low_record_burden_interpretation_limited low_record_burden_gene ALG13 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene ALG13 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 1 Hypotonia 11 low_record_burden_interpretation_limited low_record_burden_gene ALG13 alg13_related_disorder ALG13-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ALG13-related_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene ALG12 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG12 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 44 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG11 human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 0 Seizure 18 low_record_burden_interpretation_limited low_record_burden_gene ALG10 mondo_mondo_0010472_medgen_c4317295_omim_300884_orphanet_324422 Developmental and epileptic encephalopathy, 36 MONDO:MONDO:0010472,MedGen:C4317295,OMIM:300884,Orphanet:324422 1 1 1.0000 condition_record_support_limited 20 0 0 Developmental_and_epileptic_encephalopathy,_36 2 low_record_burden_interpretation_limited low_record_burden_gene ALG10 mondo_mondo_0012117_medgen_c2931006_omim_608776_orphanet_79328 ALG9 congenital disorder of glycosylation MONDO:MONDO:0012117,MedGen:C2931006,OMIM:608776,Orphanet:79328 1 1 1.0000 condition_record_support_limited 20 0 0 ALG9_congenital_disorder_of_glycosylation 2 low_record_burden_interpretation_limited low_record_burden_gene ALG1 mondo_mondo_0009732_medgen_c0403399_omim_256300_orphanet_839 Finnish congenital nephrotic syndrome MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839 1 1 1.0000 condition_record_support_limited 20 0 1 Finnish_congenital_nephrotic_syndrome 120 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG1 mondo_mondo_0005500_medgen_c4700504_omim_ps212065 Congenital disorder of glycosylation type I MONDO:MONDO:0005500,MedGen:C4700504,OMIM:PS212065 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_disorder_of_glycosylation_type_I 120 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALG1 mondo_mondo_0011783_medgen_c2931001_omim_607143_orphanet_79324 ALG12-congenital disorder of glycosylation MONDO:MONDO:0011783,MedGen:C2931001,OMIM:607143,Orphanet:79324 1 1 1.0000 condition_record_support_limited 20 0 1 ALG12-congenital_disorder_of_glycosylation 120 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH7A1 human_phenotype_ontology_hp_0032807_medgen_c0159020 Neonatal seizure Human_Phenotype_Ontology:HP:0032807,MedGen:C0159020 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_seizure 184 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH7A1 mondo_mondo_0013801_medgen_c3281191_omim_614558_orphanet_442835 Developmental and epileptic encephalopathy, 13 MONDO:MONDO:0013801,MedGen:C3281191,OMIM:614558,Orphanet:442835 1 1 1.0000 condition_record_support_limited 20 0 1 Developmental_and_epileptic_encephalopathy,_13 184 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH7A1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 184 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH7A1 human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_morphology 184 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH6A1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene ALDH5A1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_akinesia_deformation_sequence_1 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH5A1 human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis_multiplex_congenita 146 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH3A2 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 178 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH3A2 human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_palsy 178 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH3A2 aldh3a2_related_disorder ALDH3A2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ALDH3A2-related_disorder 178 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH3A1 human_phenotype_ontology_hp_0000563_mondo_mondo_0015486_mesh_d007640_medgen_c0022578_omim_ps148300 Keratoconus Human_Phenotype_Ontology:HP:0000563,MONDO:MONDO:0015486,MeSH:D007640,MedGen:C0022578,OMIM:PS148300 1 1 1.0000 condition_record_support_limited 20 0 0 Keratoconus 1 low_record_burden_interpretation_limited low_record_burden_gene ALDH1B1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene ALDH1A3 human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 0 Autism 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH18A1 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH18A1 mondo_mondo_0019064_medgen_c0037773_omim_ps303350_orphanet_685 Hereditary spastic paraplegia MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_spastic_paraplegia 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALDH18A1 aldh18a1_deficiency ALDH18A1 deficiency . 1 1 1.0000 condition_record_support_limited 20 0 1 ALDH18A1_deficiency 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALB human_phenotype_ontology_hp_0000836_human_phenotype_ontology_hp_0008241_mondo_mondo_0004425_medgen_c0020550 Hyperthyroidism Human_Phenotype_Ontology:HP:0000836,Human_Phenotype_Ontology:HP:0008241,MONDO:MONDO:0004425,MedGen:C0020550 1 1 1.0000 condition_record_support_limited 20 0 0 Hyperthyroidism 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALB medgen_c4015776 Analbuminemia Baghdad MedGen:C4015776 1 1 1.0000 condition_record_support_limited 20 0 0 Analbuminemia_Baghdad 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALB albumin_b ALBUMIN B . 1 1 1.0000 condition_record_support_limited 20 0 0 ALBUMIN_B 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALAS2 medgen_c4225593 Sideroblastic anemia 1, late-onset MedGen:C4225593 1 1 1.0000 condition_record_support_limited 20 0 0 Sideroblastic_anemia_1,_late-onset 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ALAS2 alas2_related_disorder ALAS2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ALAS2-related_disorder 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AKT3 human_phenotype_ontology_hp_0002126_mondo_mondo_0000087_medgen_c0266464_orphanet_35981 Polymicrogyria Human_Phenotype_Ontology:HP:0002126,MONDO:MONDO:0000087,MedGen:C0266464,Orphanet:35981 1 1 1.0000 condition_record_support_limited 20 0 1 Polymicrogyria 13 low_record_burden_interpretation_limited low_record_burden_gene AKT3 mondo_mondo_0100283_medgen_cn300503 Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes MONDO:MONDO:0100283,MedGen:CN300503 1 1 1.0000 condition_record_support_limited 20 0 1 Overgrowth_syndrome_and/or_cerebral_malformations_due_to_abnormalities_in_MTOR_pathway_genes 13 low_record_burden_interpretation_limited low_record_burden_gene AKT3 mondo_mondo_0011240_medgen_c1865285_omim_602501_orphanet_60040 Megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:MONDO:0011240,MedGen:C1865285,OMIM:602501,Orphanet:60040 1 1 1.0000 condition_record_support_limited 20 0 1 Megalencephaly-capillary_malformation-polymicrogyria_syndrome 13 low_record_burden_interpretation_limited low_record_burden_gene AKT3 human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 13 low_record_burden_interpretation_limited low_record_burden_gene AKT3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 13 low_record_burden_interpretation_limited low_record_burden_gene AKT3 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 13 low_record_burden_interpretation_limited low_record_burden_gene AKT3 human_phenotype_ontology_hp_0005306_mondo_mondo_0002407_medgen_c0206733 Capillary hemangioma Human_Phenotype_Ontology:HP:0005306,MONDO:MONDO:0002407,MedGen:C0206733 1 1 1.0000 condition_record_support_limited 20 0 1 Capillary_hemangioma 13 low_record_burden_interpretation_limited low_record_burden_gene AKT3 akt3_related_disorder AKT3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 AKT3-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene AKT2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 2 low_record_burden_interpretation_limited low_record_burden_gene AKT2 mondo_mondo_0009416_medgen_c3278384_omim_240900_orphanet_293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy MONDO:MONDO:0009416,MedGen:C3278384,OMIM:240900,Orphanet:293964 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoinsulinemic_hypoglycemia_and_body_hemihypertrophy 2 low_record_burden_interpretation_limited low_record_burden_gene AKT1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene AKT1 human_phenotype_ontology_hp_0100615_mondo_mondo_0021068_mesh_d010051_medgen_c0919267 Ovarian neoplasm Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267 1 1 1.0000 condition_record_support_limited 20 0 1 Ovarian_neoplasm 4 low_record_burden_interpretation_limited low_record_burden_gene AKT1 mondo_mondo_0002032_medgen_c0699790 Carcinoma of colon MONDO:MONDO:0002032,MedGen:C0699790 1 1 1.0000 condition_record_support_limited 20 0 1 Carcinoma_of_colon 4 low_record_burden_interpretation_limited low_record_burden_gene AKT1 mondo_mondo_0004988_medgen_c0858252 Breast adenocarcinoma MONDO:MONDO:0004988,MedGen:C0858252 1 1 1.0000 condition_record_support_limited 20 0 1 Breast_adenocarcinoma 4 low_record_burden_interpretation_limited low_record_burden_gene AKR1D1 mondo_mondo_0018841_medgen_c5680095_omim_ps607765_orphanet_485631 Congenital bile acid synthesis defect MONDO:MONDO:0018841,MedGen:C5680095,OMIM:PS607765,Orphanet:485631 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_bile_acid_synthesis_defect 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AKAP19 mondo_mondo_0013598_medgen_c2931112_omim_614160_orphanet_275534 Myostatin-related muscle hypertrophy MONDO:MONDO:0013598,MedGen:C2931112,OMIM:614160,Orphanet:275534 1 1 1.0000 condition_record_support_limited 20 0 0 Myostatin-related_muscle_hypertrophy 1 low_record_burden_interpretation_limited low_record_burden_gene AK1 adenylate_kinase_deficiency Adenylate kinase deficiency . 1 1 1.0000 condition_record_support_limited 20 0 1 Adenylate_kinase_deficiency 11 low_record_burden_interpretation_limited low_record_burden_gene AIRE mesh_d000081207_medgen_c5197805 Inherited Immunodeficiency Diseases MeSH:D000081207,MedGen:C5197805 1 1 1.0000 condition_record_support_limited 20 0 1 Inherited_Immunodeficiency_Diseases 227 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIRE autoimmune_polyendocrine_syndrome Autoimmune Polyendocrine Syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 Autoimmune_Polyendocrine_Syndrome 227 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIPL1 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIPL1 medgen_c2751763 Juvenile retinitis pigmentosa, AIPL1-related MedGen:C2751763 1 1 1.0000 condition_record_support_limited 20 0 1 Juvenile_retinitis_pigmentosa,_AIPL1-related 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIPL1 mondo_mondo_0007362_medgen_c3489532_omim_120970_orphanet_1872 Cone-rod dystrophy 2 MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970,Orphanet:1872 1 1 1.0000 condition_record_support_limited 20 0 1 Cone-rod_dystrophy_2 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIPL1 medgen_c2751764 CONE-ROD DYSTROPHY, AIPL1-RELATED MedGen:C2751764 1 1 1.0000 condition_record_support_limited 20 0 1 CONE-ROD_DYSTROPHY,_AIPL1-RELATED 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIPL1 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_eye 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIMP2 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 7 low_record_burden_interpretation_limited low_record_burden_gene AIMP2 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 7 low_record_burden_interpretation_limited low_record_burden_gene AIMP1 human_phenotype_ontology_hp_0001252_medgen_c0026827 Hypotonia Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827 1 1 1.0000 condition_record_support_limited 20 0 0 Hypotonia 20 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIFM1 human_phenotype_ontology_hp_0002394_human_phenotype_ontology_hp_0030051_human_phenotype_ontology_hp_0040083_medgen_c0427144 Tip-toe gait Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144 1 1 1.0000 condition_record_support_limited 20 0 0 Tip-toe_gait 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIFM1 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorineural_hearing_loss_disorder 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIFM1 human_phenotype_ontology_hp_0001763_mondo_mondo_0005293_medgen_c0016202 Pes planus Human_Phenotype_Ontology:HP:0001763,MONDO:MONDO:0005293,MedGen:C0016202 1 1 1.0000 condition_record_support_limited 20 0 1 Pes_planus 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIFM1 human_phenotype_ontology_hp_0003377_human_phenotype_ontology_hp_0009027_medgen_c1866141 Foot dorsiflexor weakness Human_Phenotype_Ontology:HP:0003377,Human_Phenotype_Ontology:HP:0009027,MedGen:C1866141 1 1 1.0000 condition_record_support_limited 20 0 1 Foot_dorsiflexor_weakness 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIFM1 human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 1.0000 condition_record_support_limited 20 0 1 Ear_malformation 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIFM1 mondo_mondo_0010983_medgen_c1832855_omim_601042_orphanet_53583 Dystonia 9 MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042,Orphanet:53583 1 1 1.0000 condition_record_support_limited 20 0 0 Dystonia_9 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIFM1 human_phenotype_ontology_hp_0002460_human_phenotype_ontology_hp_0002598_human_phenotype_ontology_hp_0002935_human_phenotype_ontology_hp_0003497_human_phenotype_ontology_hp_0006940_human_phenotype_ontology_hp_0009008_medgen_c0427065 Distal muscle weakness Human_Phenotype_Ontology:HP:0002460,Human_Phenotype_Ontology:HP:0002598,Human_Phenotype_Ontology:HP:0002935,Human_Phenotype_Ontology:HP:0003497,Human_Phenotype_Ontology:HP:0006940,Human_Phenotype_Ontology:HP:0009008,MedGen:C0427065 1 1 1.0000 condition_record_support_limited 20 0 1 Distal_muscle_weakness 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AIFM1 aifm1_related_disorder AIFM1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 AIFM1-related_disorder 47 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHSG mondo_mondo_0021035_medgen_c1859878_omim_203650 Alopecia-intellectual disability syndrome 1 MONDO:MONDO:0021035,MedGen:C1859878,OMIM:203650 1 1 1.0000 condition_record_support_limited 20 0 0 Alopecia-intellectual_disability_syndrome_1 1 low_record_burden_interpretation_limited low_record_burden_gene AHR mondo_mondo_0032689_medgen_c5193041_omim_618345 Retinitis pigmentosa 85 MONDO:MONDO:0032689,MedGen:C5193041,OMIM:618345 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa_85 9 low_record_burden_interpretation_limited low_record_burden_gene AHR infantile_nystagmus_with_foveal_hypoplasia Infantile nystagmus with foveal hypoplasia . 1 1 1.0000 condition_record_support_limited 20 0 1 Infantile_nystagmus_with_foveal_hypoplasia 9 low_record_burden_interpretation_limited low_record_burden_gene AHI1 typical_joubert_syndrome_mri_findings Typical Joubert syndrome MRI findings MedGen:CN228298 1 1 1.0000 condition_record_support_limited 20 0 1 Typical_Joubert_syndrome_MRI_findings 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHI1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHI1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHI1 human_phenotype_ontology_hp_0000478_medgen_c4316870 Abnormality of the eye Human_Phenotype_Ontology:HP:0000478,MedGen:C4316870 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_eye 268 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHDC1 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_disorder 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHDC1 mondo_mondo_0008939_medgen_c5231391_omim_213000_orphanet_1398_orphanet_2246 Congenital cerebellar hypoplasia MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_cerebellar_hypoplasia 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHDC1 cerebral_visual_impairment_and_intellectual_disability Cerebral visual impairment and intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_visual_impairment_and_intellectual_disability 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHDC1 human_phenotype_ontology_hp_0001320_medgen_c1840379 Cerebellar vermis hypoplasia Human_Phenotype_Ontology:HP:0001320,MedGen:C1840379 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_vermis_hypoplasia 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHDC1 mondo_mondo_0014352_medgen_c4014361_omim_615812 Abdominal obesity-metabolic syndrome 3 MONDO:MONDO:0014352,MedGen:C4014361,OMIM:615812 1 1 1.0000 condition_record_support_limited 20 0 1 Abdominal_obesity-metabolic_syndrome_3 175 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AHCY human_phenotype_ontology_hp_0003201_medgen_c0035410 Rhabdomyolysis Human_Phenotype_Ontology:HP:0003201,MedGen:C0035410 1 1 1.0000 condition_record_support_limited 20 0 1 Rhabdomyolysis 19 low_record_burden_interpretation_limited low_record_burden_gene AGXT human_phenotype_ontology_hp_0003159_medgen_c0020500 Hyperoxaluria Human_Phenotype_Ontology:HP:0003159,MedGen:C0020500 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperoxaluria 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGXT efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 Cardiac arrhythmia EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiac_arrhythmia 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGXT mondo_mondo_0100278_medgen_cn305373 Alanine glyoxylate aminotransferase deficiency MONDO:MONDO:0100278,MedGen:CN305373 1 1 1.0000 condition_record_support_limited 20 0 1 Alanine_glyoxylate_aminotransferase_deficiency 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGXT human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_metabolism/homeostasis 335 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGTR1 mondo_mondo_0001134_medgen_c0085580 Essential hypertension MONDO:MONDO:0001134,MedGen:C0085580 1 1 1.0000 condition_record_support_limited 20 0 1 Essential_hypertension 13 low_record_burden_interpretation_limited low_record_burden_gene AGTPBP1 mondo_mondo_0020841_medgen_c4748032_omim_618056 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures MONDO:MONDO:0020841,MedGen:C4748032,OMIM:618056 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_cerebellar_atrophy_and_with_or_without_seizures 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGTPBP1 human_phenotype_ontology_hp_0007178_human_phenotype_ontology_hp_0007278_mondo_mondo_0002316_medgen_c0271683 Motor polyneuropathy Human_Phenotype_Ontology:HP:0007178,Human_Phenotype_Ontology:HP:0007278,MONDO:MONDO:0002316,MedGen:C0271683 1 1 1.0000 condition_record_support_limited 20 0 1 Motor_polyneuropathy 23 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGT unexplained_young_onset_end_stage_renal_disease Unexplained young onset end-stage renal disease . 1 1 1.0000 condition_record_support_limited 20 0 0 Unexplained_young_onset_end-stage_renal_disease 17 low_record_burden_interpretation_limited low_record_burden_gene AGT human_phenotype_ontology_hp_0000239_human_phenotype_ontology_hp_0004473_medgen_c0456132 Large fontanelles Human_Phenotype_Ontology:HP:0000239,Human_Phenotype_Ontology:HP:0004473,MedGen:C0456132 1 1 1.0000 condition_record_support_limited 20 0 1 Large_fontanelles 17 low_record_burden_interpretation_limited low_record_burden_gene AGT human_phenotype_ontology_hp_0025700_medgen_c0730379 Anhydramnios Human_Phenotype_Ontology:HP:0025700,MedGen:C0730379 1 1 1.0000 condition_record_support_limited 20 0 1 Anhydramnios 17 low_record_burden_interpretation_limited low_record_burden_gene AGRN mondo_mondo_0700466_medgen_c0751884_orphanet_98914 Presynaptic congenital myasthenic syndrome MONDO:MONDO:0700466,MedGen:C0751884,Orphanet:98914 1 1 1.0000 condition_record_support_limited 20 0 1 Presynaptic_congenital_myasthenic_syndrome 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AGRN human_phenotype_ontology_hp_0003011_human_phenotype_ontology_hp_0003197_human_phenotype_ontology_hp_0003708_medgen_c4021745 Abnormality of the musculature Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_musculature 67 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture AGR2 agr2_related_disorder AGR2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 AGR2-related_disorder 8 low_record_burden_interpretation_limited low_record_burden_gene AGPAT5 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 1 low_record_burden_interpretation_limited low_record_burden_gene AGPAT3 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene AGO2 mondo_mondo_0012169_medgen_c1837008_omim_608996 Premature ovarian failure 3 MONDO:MONDO:0012169,MedGen:C1837008,OMIM:608996 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure_3 17 low_record_burden_interpretation_limited low_record_burden_gene AGO2 mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 17 low_record_burden_interpretation_limited low_record_burden_gene AGO1 human_phenotype_ontology_hp_0012759_medgen_c4022737 Neurodevelopmental abnormality Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_abnormality 16 low_record_burden_interpretation_limited low_record_burden_gene AGO1 ago1_related_neurodevelopmental_disorder AGO1-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 AGO1-related_neurodevelopmental_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene AGO1 ago1_related_disorder AGO1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 AGO1-related_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene AGO1 ago1_associated_disorder AGO1-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 AGO1-associated_disorder 16 low_record_burden_interpretation_limited low_record_burden_gene AGMO mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 5 low_record_burden_interpretation_limited low_record_burden_gene AGMO agmo_related_neurodevelopmental_disorder AGMO-related Neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 AGMO-related_Neurodevelopmental_disorder 5 low_record_burden_interpretation_limited low_record_burden_gene AGMAT medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 1 low_record_burden_interpretation_limited low_record_burden_gene AGL medgen_c1968741 Glycogen storage disease IIIc MedGen:C1968741 1 1 1.0000 condition_record_support_limited 20 0 0 Glycogen_storage_disease_IIIc 624 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGL autosomal_recessive_agl_related_disorders Autosomal recessive AGL-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_AGL-related_disorders 624 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGL human_phenotype_ontology_hp_0001939_human_phenotype_ontology_hp_0002146_medgen_c4021768 Abnormality of metabolism/homeostasis Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_metabolism/homeostasis 624 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGK mondo_mondo_0024541_medgen_c4551982_omim_222470_orphanet_84064 Trichohepatoenteric syndrome 1 MONDO:MONDO:0024541,MedGen:C4551982,OMIM:222470,Orphanet:84064 1 1 1.0000 condition_record_support_limited 20 0 1 Trichohepatoenteric_syndrome_1 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGK mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 1.0000 condition_record_support_limited 20 0 0 Mitochondrial_disease 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGK mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGK autosomal_recessive_agk_related_phenotype Autosomal recessive AGK-related phenotype . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_AGK-related_phenotype 50 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGGF1 mondo_mondo_0019530_medgen_c5681365_orphanet_90025 Non-syndromic syndactyly MONDO:MONDO:0019530,MedGen:C5681365,Orphanet:90025 1 1 1.0000 condition_record_support_limited 20 0 0 Non-syndromic_syndactyly 1 low_record_burden_interpretation_limited low_record_burden_gene AGBL5 human_phenotype_ontology_hp_0000547_mondo_mondo_0019200_mesh_d012174_medgen_c0035334_omim_268000_omim_ps268000_orphanet_791 Retinitis pigmentosa Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 1 1 1.0000 condition_record_support_limited 20 0 0 Retinitis_pigmentosa 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGBL5 medgen_c0339526 Autosomal recessive retinitis pigmentosa MedGen:C0339526 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_retinitis_pigmentosa 41 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGA human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AGA medgen_c4017301 ASPARTYLGLUCOSAMINURIA, FINNISH TYPE MedGen:C4017301 1 1 1.0000 condition_record_support_limited 20 0 1 ASPARTYLGLUCOSAMINURIA,_FINNISH_TYPE 118 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFP mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 3 low_record_burden_interpretation_limited low_record_burden_gene AFG3L2 human_phenotype_ontology_hp_0002313_human_phenotype_ontology_hp_0007191_medgen_c0037771 Spastic paraparesis Human_Phenotype_Ontology:HP:0002313,Human_Phenotype_Ontology:HP:0007191,MedGen:C0037771 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_paraparesis 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFG3L2 human_phenotype_ontology_hp_0002497_mondo_mondo_0017845_medgen_c1849156_omim_ps108600_orphanet_316226 Spastic ataxia Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226 1 1 1.0000 condition_record_support_limited 20 0 0 Spastic_ataxia 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFG3L2 human_phenotype_ontology_hp_0000374_human_phenotype_ontology_hp_0000407_human_phenotype_ontology_hp_0001753_human_phenotype_ontology_hp_0001916_human_phenotype_ontology_hp_0008538_human_phenotype_ontology_hp_0008553_human_phenotype_ontology_hp_0008565_human_phenotype_ontology_hp_0008576_human_phenotype_ontology_hp_0008611_human_phenotype_ontology_hp_0008613_human_phenotype_ontology_hp_0008614_mondo_mondo_0020678_mesh_d006319_medgen_c0018784 Sensorineural hearing loss disorder Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784 1 1 1.0000 condition_record_support_limited 20 0 1 Sensorineural_hearing_loss_disorder 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFG3L2 human_phenotype_ontology_hp_0001315_human_phenotype_ontology_hp_0001316_medgen_c1866934 Reduced tendon reflexes Human_Phenotype_Ontology:HP:0001315,Human_Phenotype_Ontology:HP:0001316,MedGen:C1866934 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_tendon_reflexes 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFG3L2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFG3L2 mondo_mondo_0009291_medgen_c0017922_omim_232400_orphanet_366 Glycogen storage disease type III MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366 1 1 1.0000 condition_record_support_limited 20 0 0 Glycogen_storage_disease_type_III 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFG3L2 afg3l2_associated_disorder AFG3L2-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 AFG3L2-associated_disorder 66 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFG2B spata5l1_related_disorder SPATA5L1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 SPATA5L1-related_disorder 21 compact_adjacent_exon_block_opportunity local_compact_architecture AFG2B human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 21 compact_adjacent_exon_block_opportunity local_compact_architecture AFG2A mondo_mondo_0800439_medgen_cn372091 Syndromic complex neurodevelopmental disorder MONDO:MONDO:0800439,MedGen:CN372091 1 1 1.0000 condition_record_support_limited 20 0 1 Syndromic_complex_neurodevelopmental_disorder 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFG2A monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFG2A mondo_mondo_0033204_medgen_c4539798_omim_617577 Ciliary dyskinesia, primary, 37 MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577 1 1 1.0000 condition_record_support_limited 20 0 1 Ciliary_dyskinesia,_primary,_37 98 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AFF3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 11 low_record_burden_interpretation_limited low_record_burden_gene AFF3 aff3_related_neurodevelopmental_disorders AFF3-related neurodevelopmental disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 AFF3-related_neurodevelopmental_disorders 11 low_record_burden_interpretation_limited low_record_burden_gene AFF3 aff3_associated_disorder AFF3-associated disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 AFF3-associated_disorder 11 low_record_burden_interpretation_limited low_record_burden_gene AFF2 mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 16 low_record_burden_interpretation_limited low_record_burden_gene AFF2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 16 low_record_burden_interpretation_limited low_record_burden_gene AFAP1L2 human_phenotype_ontology_hp_0000076_human_phenotype_ontology_hp_0005998_human_phenotype_ontology_hp_0006002_human_phenotype_ontology_hp_0008667_mondo_mondo_0006007_medgen_c0042580 Vesicoureteral reflux Human_Phenotype_Ontology:HP:0000076,Human_Phenotype_Ontology:HP:0005998,Human_Phenotype_Ontology:HP:0006002,Human_Phenotype_Ontology:HP:0008667,MONDO:MONDO:0006007,MedGen:C0042580 1 1 1.0000 condition_record_support_limited 20 0 0 Vesicoureteral_reflux 1 low_record_burden_interpretation_limited low_record_burden_gene AEBP1 mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 1 Autism_spectrum_disorder 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AEBP1 aebp1_related_disorder AEBP1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 AEBP1-related_disorder 46 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADSS1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_akinesia_deformation_sequence_1 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADSS1 human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis_multiplex_congenita 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADSS1 adss1_related_disorder ADSS1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ADSS1-related_disorder 30 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADRB1 medgen_c5231420_omim_618591 SHORT SLEEP, FAMILIAL NATURAL, 2 MedGen:C5231420,OMIM:618591 1 1 1.0000 condition_record_support_limited 20 0 0 SHORT_SLEEP,_FAMILIAL_NATURAL,_2 1 low_record_burden_interpretation_limited low_record_burden_gene ADRA2B condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene ADRA2A mondo_mondo_0958022_medgen_c5882744_omim_620679 Lipodystrophy, familial partial, type 8 MONDO:MONDO:0958022,MedGen:C5882744,OMIM:620679 1 1 1.0000 condition_record_support_limited 20 0 0 Lipodystrophy,_familial_partial,_type_8 1 low_record_burden_interpretation_limited low_record_burden_gene ADPRS adprs_related_disorder ADPRS-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ADPRS-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene ADPRS adprhl2_related_disorder ADPRHL2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ADPRHL2-related_disorder 19 low_record_burden_interpretation_limited low_record_burden_gene ADNP intellectual_deficiency intellectual deficiency MedGen:CN228659 1 1 1.0000 condition_record_support_limited 20 0 1 intellectual_deficiency 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADNP mondo_mondo_0002265_medgen_c0038273 Stereotypic movement disorder MONDO:MONDO:0002265,MedGen:C0038273 1 1 1.0000 condition_record_support_limited 20 0 1 Stereotypic_movement_disorder 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADNP human_phenotype_ontology_hp_0001250_human_phenotype_ontology_hp_0001275_human_phenotype_ontology_hp_0001303_human_phenotype_ontology_hp_0002125_human_phenotype_ontology_hp_0002182_human_phenotype_ontology_hp_0002279_human_phenotype_ontology_hp_0002306_human_phenotype_ontology_hp_0002348_human_phenotype_ontology_hp_0002391_human_phenotype_ontology_hp_0002417_human_phenotype_ontology_hp_0002430_human_phenotype_ontology_hp_0002431_human_phenotype_ontology_hp_0002432_human_phenotype_ontology_hp_0002434_human_phenotype_ontology_hp_0002437_human_phenotype_ontology_hp_0002466_human_phenotype_ontology_hp_0002479_human_phenotype_ontology_hp_0002794_human_phenotype_ontology_hp_0006997_human_phenotype_ontology_hp_0010520_medgen_c0036572 Seizure Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 1 1 1.0000 condition_record_support_limited 20 0 1 Seizure 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADNP mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADNP human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 0 Neurodevelopmental_delay 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADNP human_phenotype_ontology_hp_0000821_human_phenotype_ontology_hp_0003222_human_phenotype_ontology_hp_0008203_mondo_mondo_0005420_medgen_c0020676 Hypothyroidism Human_Phenotype_Ontology:HP:0000821,Human_Phenotype_Ontology:HP:0003222,Human_Phenotype_Ontology:HP:0008203,MONDO:MONDO:0005420,MedGen:C0020676 1 1 1.0000 condition_record_support_limited 20 0 1 Hypothyroidism 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADNP human_phenotype_ontology_hp_0000824_human_phenotype_ontology_hp_0000861_human_phenotype_ontology_hp_0008195_human_phenotype_ontology_hp_0008206_medgen_c5539399 Decreased response to growth hormone stimulation test Human_Phenotype_Ontology:HP:0000824,Human_Phenotype_Ontology:HP:0000861,Human_Phenotype_Ontology:HP:0008195,Human_Phenotype_Ontology:HP:0008206,MedGen:C5539399 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_response_to_growth_hormone_stimulation_test 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADNP human_phenotype_ontology_hp_0001274_human_phenotype_ontology_hp_0006800_mondo_mondo_0009022_medgen_c0175754_omim_217990_orphanet_200 Corpus callosum, agenesis of Human_Phenotype_Ontology:HP:0001274,Human_Phenotype_Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200 1 1 1.0000 condition_record_support_limited 20 0 1 Corpus_callosum,_agenesis_of 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADNP medgen_c1839707 Autism, severe MedGen:C1839707 1 1 1.0000 condition_record_support_limited 20 0 1 Autism,_severe 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADNP mondo_mondo_0005258_mesh_d000067877_medgen_c1510586 Autism spectrum disorder MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586 1 1 1.0000 condition_record_support_limited 20 0 0 Autism_spectrum_disorder 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADNP human_phenotype_ontology_hp_0000718_human_phenotype_ontology_hp_0006919_medgen_c0001807 Aggressive behavior Human_Phenotype_Ontology:HP:0000718,Human_Phenotype_Ontology:HP:0006919,MedGen:C0001807 1 1 1.0000 condition_record_support_limited 20 0 1 Aggressive_behavior 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADNP human_phenotype_ontology_hp_0000164_human_phenotype_ontology_hp_0001567_human_phenotype_ontology_hp_0006296_human_phenotype_ontology_hp_0006348_medgen_c0262444 Abnormality of the dentition Human_Phenotype_Ontology:HP:0000164,Human_Phenotype_Ontology:HP:0001567,Human_Phenotype_Ontology:HP:0006296,Human_Phenotype_Ontology:HP:0006348,MedGen:C0262444 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_dentition 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADK adk_related_disorder ADK-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ADK-related_disorder 13 low_record_burden_interpretation_limited low_record_burden_gene ADIPOR1 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene ADGRV1 medgen_c3148929 Usher syndrome, type IIC, GPR98/PDZD7 digenic MedGen:C3148929 1 1 1.0000 condition_record_support_limited 20 0 0 Usher_syndrome,_type_IIC,_GPR98/PDZD7_digenic 650 large_gene_or_donor_burden_stress_case donor_burden_stress ADGRV1 mondo_mondo_0010168_medgen_c1568247_omim_276900_orphanet_231169_orphanet_886 Usher syndrome type 1 MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886 1 1 1.0000 condition_record_support_limited 20 0 0 Usher_syndrome_type_1 650 large_gene_or_donor_burden_stress_case donor_burden_stress ADGRV1 mondo_mondo_0019588_medgen_c1846647_omim_607197_omim_ps220290_orphanet_90635_orphanet_90636 Hearing loss, autosomal recessive MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_loss,_autosomal_recessive 650 large_gene_or_donor_burden_stress_case donor_burden_stress ADGRV1 human_phenotype_ontology_hp_0000598_mondo_mondo_0007500_medgen_c0266589_omim_128600 Ear malformation Human_Phenotype_Ontology:HP:0000598,MONDO:MONDO:0007500,MedGen:C0266589,OMIM:128600 1 1 1.0000 condition_record_support_limited 20 0 1 Ear_malformation 650 large_gene_or_donor_burden_stress_case donor_burden_stress ADGRV1 autosomal_recessive_sensorineural_hearing_loss Autosomal recessive sensorineural hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_sensorineural_hearing_loss 650 large_gene_or_donor_burden_stress_case donor_burden_stress ADGRV1 adgrv1_related_myoclonic_epilepsy ADGRV1-related myoclonic epilepsy . 1 1 1.0000 condition_record_support_limited 20 0 0 ADGRV1-related_myoclonic_epilepsy 650 large_gene_or_donor_burden_stress_case donor_burden_stress ADGRG6 condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 8 low_record_burden_interpretation_limited low_record_burden_gene ADGRG2 human_phenotype_ontology_hp_0011962_medgen_c4023106 Obstructive azoospermia Human_Phenotype_Ontology:HP:0011962,MedGen:C4023106 1 1 1.0000 condition_record_support_limited 20 0 0 Obstructive_azoospermia 11 low_record_burden_interpretation_limited low_record_burden_gene ADGRG1 human_phenotype_ontology_hp_0000505_human_phenotype_ontology_hp_0000516_human_phenotype_ontology_hp_0000566_human_phenotype_ontology_hp_0007860_human_phenotype_ontology_hp_0007983_medgen_c3665347 Visual impairment Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347 1 1 1.0000 condition_record_support_limited 20 0 1 Visual_impairment 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRG1 human_phenotype_ontology_hp_0000486_mondo_mondo_0003432_medgen_c0038379 Strabismus Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379 1 1 1.0000 condition_record_support_limited 20 0 1 Strabismus 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRG1 human_phenotype_ontology_hp_0001302_human_phenotype_ontology_hp_0007227_medgen_c0266483 Pachygyria Human_Phenotype_Ontology:HP:0001302,Human_Phenotype_Ontology:HP:0007227,MedGen:C0266483 1 1 1.0000 condition_record_support_limited 20 0 1 Pachygyria 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRG1 human_phenotype_ontology_hp_0002342_human_phenotype_ontology_hp_0007303_medgen_c0026351 Moderate intellectual disability Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351 1 1 1.0000 condition_record_support_limited 20 0 1 Moderate_intellectual_disability 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRG1 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRG1 human_phenotype_ontology_hp_0002197_human_phenotype_ontology_hp_0002409_human_phenotype_ontology_hp_0007114_human_phenotype_ontology_hp_0007339_medgen_c0234533 Generalized-onset seizure Human_Phenotype_Ontology:HP:0002197,Human_Phenotype_Ontology:HP:0002409,Human_Phenotype_Ontology:HP:0007114,Human_Phenotype_Ontology:HP:0007339,MedGen:C0234533 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized-onset_seizure 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRG1 human_phenotype_ontology_hp_0009028_medgen_c4024605 Generalized weakness of limb muscles Human_Phenotype_Ontology:HP:0009028,MedGen:C4024605 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_weakness_of_limb_muscles 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRG1 human_phenotype_ontology_hp_0002060_medgen_c4021762 Abnormal cerebral morphology Human_Phenotype_Ontology:HP:0002060,MedGen:C4021762 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_cerebral_morphology 126 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADGRE2 human_phenotype_ontology_hp_0410138_mondo_mondo_0006618_medgen_c0157743_omim_125630 Vibratory urticaria Human_Phenotype_Ontology:HP:0410138,MONDO:MONDO:0006618,MedGen:C0157743,OMIM:125630 1 1 1.0000 condition_record_support_limited 20 0 0 Vibratory_urticaria 1 low_record_burden_interpretation_limited low_record_burden_gene ADGRB2 human_phenotype_ontology_hp_0007199_medgen_c0747251 Progressive spastic paraparesis Human_Phenotype_Ontology:HP:0007199,MedGen:C0747251 1 1 1.0000 condition_record_support_limited 20 0 0 Progressive_spastic_paraparesis 1 low_record_burden_interpretation_limited low_record_burden_gene ADD3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene ADD3 mondo_mondo_0014862_medgen_c4310767_omim_617008_orphanet_210141 Cerebral palsy, spastic quadriplegic, 3 MONDO:MONDO:0014862,MedGen:C4310767,OMIM:617008,Orphanet:210141 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_palsy,_spastic_quadriplegic,_3 1 low_record_burden_interpretation_limited low_record_burden_gene ADD3 human_phenotype_ontology_hp_0100021_mondo_mondo_0006497_medgen_c0007789 Cerebral palsy Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_palsy 1 low_record_burden_interpretation_limited low_record_burden_gene ADD1 human_phenotype_ontology_hp_0002575_mondo_mondo_0008586_mesh_d014138_medgen_c0040588_omim_189960_orphanet_1199 Esophageal atresia/tracheoesophageal fistula Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199 1 1 1.0000 condition_record_support_limited 20 0 0 Esophageal_atresia/tracheoesophageal_fistula 1 low_record_burden_interpretation_limited low_record_burden_gene ADCY5 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 57 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture ADCY5 mondo_mondo_0031115_medgen_c5908309_omim_ps606703 Dyskinesia with orofacial involvement MONDO:MONDO:0031115,MedGen:C5908309,OMIM:PS606703 1 1 1.0000 condition_record_support_limited 20 0 1 Dyskinesia_with_orofacial_involvement 57 diffuse_or_moderate_replacement_opportunity diffuse_moderate_architecture ADCY3 mondo_mondo_0019182_medgen_c4054476_omim_601665_orphanet_77828 Inherited obesity MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828 1 1 1.0000 condition_record_support_limited 20 0 0 Inherited_obesity 10 low_record_burden_interpretation_limited low_record_burden_gene ADCY10 human_phenotype_ontology_hp_0012207_medgen_c4082176 Reduced sperm motility Human_Phenotype_Ontology:HP:0012207,MedGen:C4082176 1 1 1.0000 condition_record_support_limited 20 0 1 Reduced_sperm_motility 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADCY10 human_phenotype_ontology_hp_0012864_medgen_c0403824 Abnormal sperm morphology Human_Phenotype_Ontology:HP:0012864,MedGen:C0403824 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_sperm_morphology 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADCY10 adcy10_related_disorder ADCY10-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ADCY10-related_disorder 33 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAT3 neurodevelopmental_disorder_with_brain_abnormalities Neurodevelopmental disorder with brain abnormalities . 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder_with_brain_abnormalities 5 low_record_burden_interpretation_limited low_record_burden_gene ADAR leukodystrophy_adult_onset Leukodystrophy, Adult-Onset MedGen:CN239186 1 1 1.0000 condition_record_support_limited 20 0 1 Leukodystrophy,_Adult-Onset 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAR human_phenotype_ontology_hp_0002502_human_phenotype_ontology_hp_0002514_human_phenotype_ontology_hp_0005806_human_phenotype_ontology_hp_0006848_medgen_c0270685 Cerebral calcification Human_Phenotype_Ontology:HP:0002502,Human_Phenotype_Ontology:HP:0002514,Human_Phenotype_Ontology:HP:0005806,Human_Phenotype_Ontology:HP:0006848,MedGen:C0270685 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebral_calcification 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAR mondo_mondo_0700261_medgen_cn377547 ADAR-related type 1 interferonopathy MONDO:MONDO:0700261,MedGen:CN377547 1 1 1.0000 condition_record_support_limited 20 0 1 ADAR-related_type_1_interferonopathy 111 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTSL4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 166 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTSL4 human_phenotype_ontology_hp_0000665_human_phenotype_ontology_hp_0001083_human_phenotype_ontology_hp_0007637_human_phenotype_ontology_hp_0007882_human_phenotype_ontology_hp_0008016_medgen_c0013581 Ectopia lentis Human_Phenotype_Ontology:HP:0000665,Human_Phenotype_Ontology:HP:0001083,Human_Phenotype_Ontology:HP:0007637,Human_Phenotype_Ontology:HP:0007882,Human_Phenotype_Ontology:HP:0008016,MedGen:C0013581 1 1 1.0000 condition_record_support_limited 20 0 1 Ectopia_lentis 166 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTSL2 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTSL2 adamtsl2_related_disorder ADAMTSL2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ADAMTSL2-related_disorder 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTS9 human_phenotype_ontology_hp_0000090_human_phenotype_ontology_hp_0004748_mondo_mondo_0019005_medgen_c0687120_omim_ps256100_orphanet_655 Nephronophthisis Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655 1 1 1.0000 condition_record_support_limited 20 0 0 Nephronophthisis 1 low_record_burden_interpretation_limited low_record_burden_gene ADAMTS6 mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 1 low_record_burden_interpretation_limited low_record_burden_gene ADAMTS3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 3 low_record_burden_interpretation_limited low_record_burden_gene ADAMTS18 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 58 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTS17 human_phenotype_ontology_hp_0007696_human_phenotype_ontology_hp_0007699_human_phenotype_ontology_hp_0007700_human_phenotype_ontology_hp_0008040_mondo_mondo_0019503_medgen_c1862839_omim_ps107250_orphanet_88632 Anterior segment dysgenesis Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632 1 1 1.0000 condition_record_support_limited 20 0 1 Anterior_segment_dysgenesis 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTS17 adamts17_related_disorder ADAMTS17-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ADAMTS17-related_disorder 67 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTS16 mondo_mondo_0020040_medgen_c2751824_orphanet_98085 46,XY disorder of sex development MONDO:MONDO:0020040,MedGen:C2751824,Orphanet:98085 1 1 1.0000 condition_record_support_limited 20 0 0 46,XY_disorder_of_sex_development 1 low_record_burden_interpretation_limited low_record_burden_gene ADAMTS15 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene ADAMTS13 human_phenotype_ontology_hp_0001873_human_phenotype_ontology_hp_0001906_human_phenotype_ontology_hp_0004838_human_phenotype_ontology_hp_0008175_human_phenotype_ontology_hp_0008268_human_phenotype_ontology_hp_0008302_mondo_mondo_0002049_mesh_d013921_medgen_c0040034 Thrombocytopenia Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034 1 1 1.0000 condition_record_support_limited 20 0 1 Thrombocytopenia 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTS13 human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_bleeding 125 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAMTS1 mondo_mondo_0005387_medgen_c0085215 Premature ovarian failure MONDO:MONDO:0005387,MedGen:C0085215 1 1 1.0000 condition_record_support_limited 20 0 0 Premature_ovarian_failure 1 low_record_burden_interpretation_limited low_record_burden_gene ADAM9 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 29 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAM22 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 9 low_record_burden_interpretation_limited low_record_burden_gene ADAM22 adam22_related_disorder ADAM22-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ADAM22-related_disorder 9 low_record_burden_interpretation_limited low_record_burden_gene ADAM17 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAM17 mondo_mondo_0017411_medgen_c4751120_omim_ps614328_orphanet_294023 Neonatal inflammatory skin and bowel disease MONDO:MONDO:0017411,MedGen:C4751120,OMIM:PS614328,Orphanet:294023 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_inflammatory_skin_and_bowel_disease 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAM17 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADAD2 human_phenotype_ontology_hp_0011961_medgen_c4021107 Non-obstructive azoospermia Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107 1 1 1.0000 condition_record_support_limited 20 0 0 Non-obstructive_azoospermia 1 low_record_burden_interpretation_limited low_record_burden_gene ADA2 human_phenotype_ontology_hp_0001744_human_phenotype_ontology_hp_0001745_human_phenotype_ontology_hp_0006269_medgen_c0038002 Splenomegaly Human_Phenotype_Ontology:HP:0001744,Human_Phenotype_Ontology:HP:0001745,Human_Phenotype_Ontology:HP:0006269,MedGen:C0038002 1 1 1.0000 condition_record_support_limited 20 0 1 Splenomegaly 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADA2 mondo_mondo_0019170_medgen_c0031036_orphanet_767 Polyarteritis nodosa MONDO:MONDO:0019170,MedGen:C0031036,Orphanet:767 1 1 1.0000 condition_record_support_limited 20 0 0 Polyarteritis_nodosa 89 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADA mondo_mondo_0011086_medgen_c1832322_omim_601457_orphanet_331206 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457,Orphanet:331206 1 1 1.0000 condition_record_support_limited 20 0 1 Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ADA medgen_c1863239 Partial adenosine deaminase deficiency MedGen:C1863239 1 1 1.0000 condition_record_support_limited 20 0 1 Partial_adenosine_deaminase_deficiency 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACVRL1 human_phenotype_ontology_hp_0001009_human_phenotype_ontology_hp_0001079_mondo_mondo_0001576_medgen_c0039446 Telangiectasia Human_Phenotype_Ontology:HP:0001009,Human_Phenotype_Ontology:HP:0001079,MONDO:MONDO:0001576,MedGen:C0039446 1 1 1.0000 condition_record_support_limited 20 0 1 Telangiectasia 546 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACVRL1 human_phenotype_ontology_hp_0000421_medgen_c0014591 Epistaxis Human_Phenotype_Ontology:HP:0000421,MedGen:C0014591 1 1 1.0000 condition_record_support_limited 20 0 1 Epistaxis 546 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACVR1B human_phenotype_ontology_hp_0031348_mondo_mondo_0019443_medgen_c3531771_omim_608808_orphanet_860 Dextro-looped transposition of the great arteries Human_Phenotype_Ontology:HP:0031348,MONDO:MONDO:0019443,MedGen:C3531771,OMIM:608808,Orphanet:860 1 1 1.0000 condition_record_support_limited 20 0 0 Dextro-looped_transposition_of_the_great_arteries 3 low_record_burden_interpretation_limited low_record_burden_gene ACVR1 human_phenotype_ontology_hp_0000286_human_phenotype_ontology_hp_0000624_human_phenotype_ontology_hp_0007930_medgen_c0678230_omim_131500 Epicanthus Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500 1 1 1.0000 condition_record_support_limited 20 0 1 Epicanthus 10 low_record_burden_interpretation_limited low_record_burden_gene ACVR1 acvr1_related_disorder ACVR1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ACVR1-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene ACTRT3 mondo_mondo_0007485_medgen_c4551974_omim_127550_orphanet_1775 Dyskeratosis congenita, autosomal dominant 1 MONDO:MONDO:0007485,MedGen:C4551974,OMIM:127550,Orphanet:1775 1 1 1.0000 condition_record_support_limited 20 0 0 Dyskeratosis_congenita,_autosomal_dominant_1 1 low_record_burden_interpretation_limited low_record_burden_gene ACTR2 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene ACTN2 efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTN2 mondo_mondo_0032853_medgen_c5203349_omim_618655 Myopathy, distal, 6, adult-onset, autosomal dominant MONDO:MONDO:0032853,MedGen:C5203349,OMIM:618655 1 1 1.0000 condition_record_support_limited 20 0 0 Myopathy,_distal,_6,_adult-onset,_autosomal_dominant 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTN2 human_phenotype_ontology_hp_0030682_mondo_mondo_0018901_medgen_c1960469_omim_ps604169_orphanet_54260 Left ventricular noncompaction Human_Phenotype_Ontology:HP:0030682,MONDO:MONDO:0018901,MedGen:C1960469,OMIM:PS604169,Orphanet:54260 1 1 1.0000 condition_record_support_limited 20 0 0 Left_ventricular_noncompaction 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTN2 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 1.0000 condition_record_support_limited 20 0 1 Hypertrophic_cardiomyopathy 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTN2 actn2_related_disorder ACTN2-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ACTN2-related_disorder 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTN2 mondo_mondo_0700349_medgen_cn379592 ACTN2-related cardiac and skeletal myopathy MONDO:MONDO:0700349,MedGen:CN379592 1 1 1.0000 condition_record_support_limited 20 0 1 ACTN2-related_cardiac_and_skeletal_myopathy 25 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTN1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTN1 human_phenotype_ontology_hp_0001892_human_phenotype_ontology_hp_0004830_human_phenotype_ontology_hp_0004834_human_phenotype_ontology_hp_0004849_human_phenotype_ontology_hp_0004862_human_phenotype_ontology_hp_0004865_human_phenotype_ontology_hp_0008183_medgen_c1458140 Abnormal bleeding Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_bleeding 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTL7A male_infertility_with_normal_semen_parameters Male infertility with normal semen parameters . 1 1 1.0000 condition_record_support_limited 20 0 0 Male_infertility_with_normal_semen_parameters 7 low_record_burden_interpretation_limited low_record_burden_gene ACTL6B mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTL6B human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTL6B mondo_mondo_0010020_medgen_c1720863_omim_269700_orphanet_528_orphanet_696289 Congenital generalized lipodystrophy type 2 MONDO:MONDO:0010020,MedGen:C1720863,OMIM:269700,Orphanet:528,Orphanet:696289 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_generalized_lipodystrophy_type_2 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTL6B human_phenotype_ontology_hp_0000717_mondo_mondo_0005260_mesh_d001321_medgen_c0004352_omim_209850 Autism Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850 1 1 1.0000 condition_record_support_limited 20 0 1 Autism 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTL6B actl6b_related_neurodevelopmental_disorder ACTL6B-related neurodevelopmental disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ACTL6B-related_neurodevelopmental_disorder 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTL6B actl6b_related_dominant_intellectual_disability ACTL6B-related dominant intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 1 ACTL6B-related_dominant_intellectual_disability 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTL6B actl6b_related_disorder ACTL6B-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ACTL6B-related_disorder 54 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTG2 mondo_mondo_0025986_medgen_c1608393_omim_ps249210_orphanet_2241 Megacystis, microcolon, hypoperistalsis syndrome MONDO:MONDO:0025986,MedGen:C1608393,OMIM:PS249210,Orphanet:2241 1 1 1.0000 condition_record_support_limited 20 0 0 Megacystis,_microcolon,_hypoperistalsis_syndrome 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTG2 human_phenotype_ontology_hp_0005214_human_phenotype_ontology_hp_0005239_mondo_mondo_0004565_medgen_c0021843 Intestinal obstruction Human_Phenotype_Ontology:HP:0005214,Human_Phenotype_Ontology:HP:0005239,MONDO:MONDO:0004565,MedGen:C0021843 1 1 1.0000 condition_record_support_limited 20 0 1 Intestinal_obstruction 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTG2 human_phenotype_ontology_hp_0002019_human_phenotype_ontology_hp_0002241_human_phenotype_ontology_hp_0003786_mondo_mondo_0002203_medgen_c0009806 Constipation Human_Phenotype_Ontology:HP:0002019,Human_Phenotype_Ontology:HP:0002241,Human_Phenotype_Ontology:HP:0003786,MONDO:MONDO:0002203,MedGen:C0009806 1 1 1.0000 condition_record_support_limited 20 0 1 Constipation 42 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTG1 mondo_mondo_0019497_medgen_c5680182_orphanet_87884 Nonsyndromic genetic hearing loss MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884 1 1 1.0000 condition_record_support_limited 20 0 1 Nonsyndromic_genetic_hearing_loss 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTG1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTG1 monogenic_hearing_loss Monogenic hearing loss . 1 1 1.0000 condition_record_support_limited 20 0 1 Monogenic_hearing_loss 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTG1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTG1 human_phenotype_ontology_hp_0000365_human_phenotype_ontology_hp_0000404_human_phenotype_ontology_hp_0001728_human_phenotype_ontology_hp_0001729_human_phenotype_ontology_hp_0001754_human_phenotype_ontology_hp_0008560_human_phenotype_ontology_hp_0008563_mondo_mondo_0005365_medgen_c1384666 Hearing impairment Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666 1 1 1.0000 condition_record_support_limited 20 0 1 Hearing_impairment 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTG1 mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_anomaly_of_kidney_and_urinary_tract 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTG1 mondo_mondo_0017579_medgen_c1853623_omim_ps243310_orphanet_2995 Baraitser-Winter syndrome MONDO:MONDO:0017579,MedGen:C1853623,OMIM:PS243310,Orphanet:2995 1 1 1.0000 condition_record_support_limited 20 0 1 Baraitser-Winter_syndrome 59 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTC1 mondo_mondo_0024573_mesh_d024741_medgen_c0949658_omim_ps192600_orphanet_99739 Primary familial hypertrophic cardiomyopathy MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:99739 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_familial_hypertrophic_cardiomyopathy 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTC1 efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTC1 efo_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTC1 mondo_mondo_0800350_medgen_c3150682 Left ventricular noncompaction 4 MONDO:MONDO:0800350,MedGen:C3150682 1 1 1.0000 condition_record_support_limited 20 0 1 Left_ventricular_noncompaction_4 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTC1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTC1 mondo_mondo_0008779_medgen_c0003886 Arthrogryposis MONDO:MONDO:0008779,MedGen:C0003886 1 1 1.0000 condition_record_support_limited 20 0 0 Arthrogryposis 22 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB human_phenotype_ontology_hp_0000175_mondo_mondo_0016064_medgen_c2981150_orphanet_2014 Cleft palate Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014 1 1 1.0000 condition_record_support_limited 20 0 1 Cleft_palate 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB congenital_smooth_muscle_hamartoma_with_hemihypertrophy_somatic_mosaic CONGENITAL SMOOTH MUSCLE HAMARTOMA WITH HEMIHYPERTROPHY, SOMATIC, MOSAIC . 1 1 1.0000 condition_record_support_limited 20 0 1 CONGENITAL_SMOOTH_MUSCLE_HAMARTOMA_WITH_HEMIHYPERTROPHY,_SOMATIC,_MOSAIC 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB mondo_mondo_0017579_medgen_c1853623_omim_ps243310_orphanet_2995 Baraitser-Winter syndrome MONDO:MONDO:0017579,MedGen:C1853623,OMIM:PS243310,Orphanet:2995 1 1 1.0000 condition_record_support_limited 20 0 1 Baraitser-Winter_syndrome 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB becker_nevus_somatic_mosaic BECKER NEVUS, SOMATIC, MOSAIC . 1 1 1.0000 condition_record_support_limited 20 0 1 BECKER_NEVUS,_SOMATIC,_MOSAIC 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB becker_nevus_isolated_somatic_mosaic BECKER NEVUS, ISOLATED, SOMATIC, MOSAIC . 1 1 1.0000 condition_record_support_limited 20 0 1 BECKER_NEVUS,_ISOLATED,_SOMATIC,_MOSAIC 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB becker_nevus_syndrome_somatic_mosaic BECKER NEVUS SYNDROME, SOMATIC, MOSAIC . 1 1 1.0000 condition_record_support_limited 20 0 1 BECKER_NEVUS_SYNDROME,_SOMATIC,_MOSAIC 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB mondo_mondo_0012368_medgen_c1835922_omim_609924_orphanet_137754 Aminoacylase 1 deficiency MONDO:MONDO:0012368,MedGen:C1835922,OMIM:609924,Orphanet:137754 1 1 1.0000 condition_record_support_limited 20 0 1 Aminoacylase_1_deficiency 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB human_phenotype_ontology_hp_0012443_medgen_c4021085 Abnormal brain morphology Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_brain_morphology 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTB actb_haploinsufficiency_syndrome ACTB Haploinsufficiency syndrome . 1 1 1.0000 condition_record_support_limited 20 0 1 ACTB_Haploinsufficiency_syndrome 137 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA2 alterations_of_great_arteries_and_veins alterations of great arteries and veins . 1 1 1.0000 condition_record_support_limited 20 0 1 alterations_of_great_arteries_and_veins 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA2 thoracic_aortic_aneurysm_or_dissection Thoracic aortic aneurysm or dissection . 1 1 1.0000 condition_record_support_limited 20 0 1 Thoracic_aortic_aneurysm_or_dissection 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA2 mondo_mondo_0007947_medgen_c0024796_omim_154700_orphanet_284963_orphanet_558 Marfan syndrome MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558 1 1 1.0000 condition_record_support_limited 20 0 0 Marfan_syndrome 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA2 isolated_thoracic_aortic_aneurysm Isolated thoracic aortic aneurysm . 1 1 1.0000 condition_record_support_limited 20 0 1 Isolated_thoracic_aortic_aneurysm 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA2 human_phenotype_ontology_hp_0012499_medgen_c4022878 Descending aortic dissection Human_Phenotype_Ontology:HP:0012499,MedGen:C4022878 1 1 1.0000 condition_record_support_limited 20 0 0 Descending_aortic_dissection 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA2 mondo_mondo_0003900_medgen_c0009782 Connective tissue disorder MONDO:MONDO:0003900,MedGen:C0009782 1 1 1.0000 condition_record_support_limited 20 0 1 Connective_tissue_disorder 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA2 mondo_mondo_0011158_medgen_c1328840_omim_601859_orphanet_3261 Autoimmune lymphoproliferative syndrome type 1 MONDO:MONDO:0011158,MedGen:C1328840,OMIM:601859,Orphanet:3261 1 1 1.0000 condition_record_support_limited 20 0 1 Autoimmune_lymphoproliferative_syndrome_type_1 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA2 mondo_mondo_0011770_medgen_c1846837_omim_607087 Aortic aneurysm, familial thoracic 2 MONDO:MONDO:0011770,MedGen:C1846837,OMIM:607087 1 1 1.0000 condition_record_support_limited 20 0 1 Aortic_aneurysm,_familial_thoracic_2 40 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 efo_the_experimental_factor_ontology_efo_0000407_human_phenotype_ontology_hp_0001644_human_phenotype_ontology_hp_0001725_human_phenotype_ontology_hp_0005159_human_phenotype_ontology_hp_0200130_mondo_mondo_0005021_mesh_d002311_medgen_c0007193_orphanet_217604 Primary dilated cardiomyopathy EFO:_The_Experimental_Factor_Ontology:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604 1 1 1.0000 condition_record_support_limited 20 0 1 Primary_dilated_cardiomyopathy 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 human_phenotype_ontology_hp_0001790_mondo_mondo_0009369_medgen_c0455988_omim_236750_orphanet_363999 Non-immune hydrops fetalis Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999 1 1 1.0000 condition_record_support_limited 20 0 1 Non-immune_hydrops_fetalis 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 human_phenotype_ontology_hp_0012758_medgen_c4022738 Neurodevelopmental delay Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_delay 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 mondo_mondo_0009725_medgen_c1850569_omim_256030 Nemaline myopathy 2 MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030 1 1 1.0000 condition_record_support_limited 20 0 1 Nemaline_myopathy_2 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 human_phenotype_ontology_hp_0001989_mondo_mondo_0100101_medgen_c1276035_omim_208150_orphanet_994 Fetal akinesia deformation sequence 1 Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_akinesia_deformation_sequence_1 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 mondo_mondo_0008824_medgen_cn263240_omim_ps208150 Fetal akinesia deformation sequence MONDO:MONDO:0008824,MedGen:CN263240,OMIM:PS208150 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_akinesia_deformation_sequence 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 medgen_c5442080 Fetal akinesia MedGen:C5442080 1 1 1.0000 condition_record_support_limited 20 0 1 Fetal_akinesia 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 congenital_muscular_dystrophy_with_rigid_spine Congenital muscular dystrophy with rigid spine . 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_muscular_dystrophy_with_rigid_spine 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 mondo_mondo_0018947_medgen_c0175709_omim_ps160150_orphanet_595 Centronuclear myopathy MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595 1 1 1.0000 condition_record_support_limited 20 0 1 Centronuclear_myopathy 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 human_phenotype_ontology_hp_0001389_human_phenotype_ontology_hp_0001390_human_phenotype_ontology_hp_0002759_human_phenotype_ontology_hp_0002804_human_phenotype_ontology_hp_0005188_human_phenotype_ontology_hp_0005663_human_phenotype_ontology_hp_0005809_human_phenotype_ontology_hp_0005859_mondo_mondo_0015168_mesh_d001176_medgen_c5779613_omim_ps617468_orphanet_1037 Arthrogryposis multiplex congenita Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037 1 1 1.0000 condition_record_support_limited 20 0 1 Arthrogryposis_multiplex_congenita 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACTA1 acta1_gene_related_myopathy ACTA1 gene related myopathy . 1 1 1.0000 condition_record_support_limited 20 0 1 ACTA1_gene_related_myopathy 230 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACSL5 mondo_mondo_0957253_medgen_c5830477_omim_620357 Diarrhea 13 MONDO:MONDO:0957253,MedGen:C5830477,OMIM:620357 1 1 1.0000 condition_record_support_limited 20 0 0 Diarrhea_13 1 low_record_burden_interpretation_limited low_record_burden_gene ACSL4 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_disability 14 low_record_burden_interpretation_limited low_record_burden_gene ACSF3 human_phenotype_ontology_hp_0002912_human_phenotype_ontology_hp_0003123_human_phenotype_ontology_hp_0008295_mondo_mondo_0002012_mesh_c537358_medgen_c0268583_omim_ps251000 Methylmalonic acidemia Human_Phenotype_Ontology:HP:0002912,Human_Phenotype_Ontology:HP:0003123,Human_Phenotype_Ontology:HP:0008295,MONDO:MONDO:0002012,MeSH:C537358,MedGen:C0268583,OMIM:PS251000 1 1 1.0000 condition_record_support_limited 20 0 1 Methylmalonic_acidemia 186 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACSF3 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 186 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACR mondo_mondo_0957594_medgen_c5882687_omim_620500 Spermatogenic failure 87 MONDO:MONDO:0957594,MedGen:C5882687,OMIM:620500 1 1 1.0000 condition_record_support_limited 20 0 0 Spermatogenic_failure_87 1 low_record_burden_interpretation_limited low_record_burden_gene ACP6 cerebral_visual_impairment_and_intellectual_disability Cerebral visual impairment and intellectual disability . 1 1 1.0000 condition_record_support_limited 20 0 0 Cerebral_visual_impairment_and_intellectual_disability 1 low_record_burden_interpretation_limited low_record_burden_gene ACOX2 mondo_mondo_0015015_medgen_c4310624_omim_617308 Congenital bile acid synthesis defect 6 MONDO:MONDO:0015015,MedGen:C4310624,OMIM:617308 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_bile_acid_synthesis_defect_6 1 low_record_burden_interpretation_limited low_record_burden_gene ACOX1 human_phenotype_ontology_hp_0001324_human_phenotype_ontology_hp_0002309_human_phenotype_ontology_hp_0008979_human_phenotype_ontology_hp_0009012_human_phenotype_ontology_hp_0009061_medgen_c0151786 Muscle weakness Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786 1 1 1.0000 condition_record_support_limited 20 0 0 Muscle_weakness 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACOX1 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACOX1 acox1_related_disorder ACOX1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ACOX1-related_disorder 80 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACOT1 human_phenotype_ontology_hp_0001290_medgen_c1858120 Generalized hypotonia Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120 1 1 1.0000 condition_record_support_limited 20 0 0 Generalized_hypotonia 1 low_record_burden_interpretation_limited low_record_burden_gene ACO2 human_phenotype_ontology_hp_0000556_human_phenotype_ontology_hp_0007736_human_phenotype_ontology_hp_0007910_human_phenotype_ontology_hp_0007974_human_phenotype_ontology_hp_0007982_mondo_mondo_0019118_mesh_d058499_medgen_c0854723_orphanet_71862 Retinal dystrophy Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862 1 1 1.0000 condition_record_support_limited 20 0 0 Retinal_dystrophy 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACO2 human_phenotype_ontology_hp_0001138_human_phenotype_ontology_hp_0007806_mondo_mondo_0002135_medgen_c3887709 Optic neuropathy Human_Phenotype_Ontology:HP:0001138,Human_Phenotype_Ontology:HP:0007806,MONDO:MONDO:0002135,MedGen:C3887709 1 1 1.0000 condition_record_support_limited 20 0 1 Optic_neuropathy 82 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACKR3 condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 1 not_provided 1 low_record_burden_interpretation_limited low_record_burden_gene ACKR3 mondo_mondo_0030976_medgen_c5543116_omim_619215 Oculomotor-abducens synkinesis MONDO:MONDO:0030976,MedGen:C5543116,OMIM:619215 1 1 1.0000 condition_record_support_limited 20 0 1 Oculomotor-abducens_synkinesis 1 low_record_burden_interpretation_limited low_record_burden_gene ACKR1 medgen_c2676078_omim_611862 White blood cell count quantitative trait locus 1 MedGen:C2676078,OMIM:611862 1 1 1.0000 condition_record_support_limited 20 0 1 White_blood_cell_count_quantitative_trait_locus_1 2 low_record_burden_interpretation_limited low_record_burden_gene ACKR1 medgen_c1970105 Resistance to Plasmodium vivax infection MedGen:C1970105 1 1 1.0000 condition_record_support_limited 20 0 1 Resistance_to_Plasmodium_vivax_infection 2 low_record_burden_interpretation_limited low_record_burden_gene ACER3 acer3_related_disorder ACER3-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ACER3-related_disorder 6 low_record_burden_interpretation_limited low_record_burden_gene ACE mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 0 Inborn_genetic_diseases 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACE mondo_mondo_0100567_medgen_c1960459_orphanet_528647 Hereditary angioedema with normal C1Inh MONDO:MONDO:0100567,MedGen:C1960459,Orphanet:528647 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_angioedema_with_normal_C1Inh 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACE mondo_mondo_0019719_mesh_c566906_medgen_c1968949_omim_ps610805_orphanet_93545 Congenital anomaly of kidney and urinary tract MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_anomaly_of_kidney_and_urinary_tract 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACE human_phenotype_ontology_hp_0001197_medgen_c4025797 Abnormality of prenatal development or birth Human_Phenotype_Ontology:HP:0001197,MedGen:C4025797 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_prenatal_development_or_birth 64 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACD condition_not_provided condition not provided MedGen:C3661900 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 5 low_record_burden_interpretation_limited low_record_burden_gene ACD mondo_mondo_0800370_medgen_c4225283 Dyskeratosis congenita, autosomal recessive 7 MONDO:MONDO:0800370,MedGen:C4225283 1 1 1.0000 condition_record_support_limited 20 0 1 Dyskeratosis_congenita,_autosomal_recessive_7 5 low_record_burden_interpretation_limited low_record_burden_gene ACBD6 human_phenotype_ontology_hp_0000730_human_phenotype_ontology_hp_0001249_human_phenotype_ontology_hp_0001267_human_phenotype_ontology_hp_0001286_human_phenotype_ontology_hp_0002122_human_phenotype_ontology_hp_0002192_human_phenotype_ontology_hp_0002316_human_phenotype_ontology_hp_0002382_human_phenotype_ontology_hp_0002386_human_phenotype_ontology_hp_0002402_human_phenotype_ontology_hp_0002458_human_phenotype_ontology_hp_0002482_human_phenotype_ontology_hp_0002499_human_phenotype_ontology_hp_0002543_human_phenotype_ontology_hp_0003767_human_phenotype_ontology_hp_0006833_human_phenotype_ontology_hp_0007154_human_phenotype_ontology_hp_0007176_human_phenotype_ontology_hp_0007180_mondo_mondo_0001071_mesh_d008607_medgen_c3714756 Intellectual disability Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756 1 1 1.0000 condition_record_support_limited 20 0 1 Intellectual_disability 15 low_record_burden_interpretation_limited low_record_burden_gene ACBD5 human_phenotype_ontology_hp_0000488_mondo_mondo_0005283_medgen_c0035309 Retinal disorder Human_Phenotype_Ontology:HP:0000488,MONDO:MONDO:0005283,MedGen:C0035309 1 1 1.0000 condition_record_support_limited 20 0 1 Retinal_disorder 24 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACAN mondo_mondo_0018566_medgen_c5681177_orphanet_435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome MONDO:MONDO:0018566,MedGen:C5681177,Orphanet:435804 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature-advanced_bone_age-early-onset_osteoarthritis_syndrome 203 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ACAN human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 0 Short_stature 203 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ACAN mondo_mondo_1060149_medgen_cn379890 ACAN-related short stature spectrum MONDO:MONDO:1060149,MedGen:CN379890 1 1 1.0000 condition_record_support_limited 20 0 1 ACAN-related_short_stature_spectrum 203 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ACADVL mondo_mondo_0010802_medgen_c2931296_omim_600001_orphanet_2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:MONDO:0010802,MedGen:C2931296,OMIM:600001,Orphanet:2255 1 1 1.0000 condition_record_support_limited 20 0 1 Pancreatic_hypoplasia-diabetes-congenital_heart_disease_syndrome 513 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACADVL mondo_mondo_0032919_medgen_c5394083_omim_618793 Intellectual developmental disorder 62 MONDO:MONDO:0032919,MedGen:C5394083,OMIM:618793 1 1 1.0000 condition_record_support_limited 20 0 0 Intellectual_developmental_disorder_62 513 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACADVL medgen_c1135954 Incidental Discovery MedGen:C1135954 1 1 1.0000 condition_record_support_limited 20 0 1 Incidental_Discovery 513 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACADVL efo_the_experimental_factor_ontology_efo_0004269_human_phenotype_ontology_hp_0001656_human_phenotype_ontology_hp_0001661_human_phenotype_ontology_hp_0001665_human_phenotype_ontology_hp_0001666_human_phenotype_ontology_hp_0001687_human_phenotype_ontology_hp_0001721_human_phenotype_ontology_hp_0004351_human_phenotype_ontology_hp_0005158_human_phenotype_ontology_hp_0011675_mondo_mondo_0007263_medgen_c0003811 Cardiac arrhythmia EFO:_The_Experimental_Factor_Ontology:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiac_arrhythmia 513 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACADM mondo_mondo_0014085_medgen_c3554691_omim_615219_orphanet_2185 Hydrocephalus, nonsyndromic, autosomal recessive 2 MONDO:MONDO:0014085,MedGen:C3554691,OMIM:615219,Orphanet:2185 1 1 1.0000 condition_record_support_limited 20 0 1 Hydrocephalus,_nonsyndromic,_autosomal_recessive_2 370 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACADM mondo_mondo_0008722_medgen_c0342783_omim_201470_orphanet_26792 Deficiency of butyryl-CoA dehydrogenase MONDO:MONDO:0008722,MedGen:C0342783,OMIM:201470,Orphanet:26792 1 1 1.0000 condition_record_support_limited 20 0 1 Deficiency_of_butyryl-CoA_dehydrogenase 370 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACAD9 possible_mitochondrial_disorder_nuclear_genes Possible mitochondrial disorder - nuclear genes . 1 1 1.0000 condition_record_support_limited 20 0 1 Possible_mitochondrial_disorder_-_nuclear_genes 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ACAD9 human_phenotype_ontology_hp_0001639_mondo_mondo_0005045_mesh_d002312_medgen_c0007194_orphanet_217569 Hypertrophic cardiomyopathy Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569 1 1 1.0000 condition_record_support_limited 20 0 0 Hypertrophic_cardiomyopathy 185 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABL1 medgen_c5681261_orphanet_477768 Moyamoya angiopathy MedGen:C5681261,Orphanet:477768 1 1 1.0000 condition_record_support_limited 20 0 0 Moyamoya_angiopathy 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABL1 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABL1 abl1_related_disorder ABL1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 ABL1-related_disorder 26 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABHD5 abhd5_related_disorder ABHD5-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ABHD5-related_disorder 32 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABHD16A medgen_c5680377_orphanet_100981 Autosomal recessive complex spastic paraplegia MedGen:C5680377,Orphanet:100981 1 1 1.0000 condition_record_support_limited 20 0 0 Autosomal_recessive_complex_spastic_paraplegia 7 low_record_burden_interpretation_limited low_record_burden_gene ABHD12 mondo_mondo_0000455_medgen_c0730290_orphanet_1871 Cone dystrophy MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871 1 1 1.0000 condition_record_support_limited 20 0 0 Cone_dystrophy 52 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCG8 mondo_mondo_1010151_medgen_c1969115_omim_611465 Gallbladder disease 4 MONDO:MONDO:1010151,MedGen:C1969115,OMIM:611465 1 1 1.0000 condition_record_support_limited 20 0 1 Gallbladder_disease_4 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCG8 human_phenotype_ontology_hp_0003119_human_phenotype_ontology_hp_0003611_medgen_c4025650 Abnormal circulating lipid concentration Human_Phenotype_Ontology:HP:0003119,Human_Phenotype_Ontology:HP:0003611,MedGen:C4025650 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormal_circulating_lipid_concentration 60 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCG5 human_phenotype_ontology_hp_0003124_human_phenotype_ontology_hp_0008154_human_phenotype_ontology_hp_0008173_human_phenotype_ontology_hp_0008359_mesh_d006937_medgen_c0020443 Hypercholesterolemia Human_Phenotype_Ontology:HP:0003124,Human_Phenotype_Ontology:HP:0008154,Human_Phenotype_Ontology:HP:0008173,Human_Phenotype_Ontology:HP:0008359,MeSH:D006937,MedGen:C0020443 1 1 1.0000 condition_record_support_limited 20 0 1 Hypercholesterolemia 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCG5 mondo_mondo_0008831_medgen_c4551856_omim_208500_orphanet_474 Asphyxiating thoracic dystrophy 1 MONDO:MONDO:0008831,MedGen:C4551856,OMIM:208500,Orphanet:474 1 1 1.0000 condition_record_support_limited 20 0 1 Asphyxiating_thoracic_dystrophy_1 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCG5 human_phenotype_ontology_hp_0003119_human_phenotype_ontology_hp_0003611_medgen_c4025650 Abnormal circulating lipid concentration Human_Phenotype_Ontology:HP:0003119,Human_Phenotype_Ontology:HP:0003611,MedGen:C4025650 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_circulating_lipid_concentration 70 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCD3 mondo_mondo_0014564_medgen_c4225390_omim_616278 Congenital bile acid synthesis defect 5 MONDO:MONDO:0014564,MedGen:C4225390,OMIM:616278 1 1 1.0000 condition_record_support_limited 20 0 0 Congenital_bile_acid_synthesis_defect_5 1 low_record_burden_interpretation_limited low_record_burden_gene ABCD1 mondo_mondo_0010247_medgen_c2026514_orphanet_139396 X-linked cerebral adrenoleukodystrophy MONDO:MONDO:0010247,MedGen:C2026514,Orphanet:139396 1 1 1.0000 condition_record_support_limited 20 0 0 X-linked_cerebral_adrenoleukodystrophy 512 compact_adjacent_exon_block_opportunity local_compact_architecture ABCD1 human_phenotype_ontology_hp_0001258_human_phenotype_ontology_hp_0007062_human_phenotype_ontology_hp_0007124_human_phenotype_ontology_hp_0007216_medgen_c0037772 Spastic paraplegia Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_paraplegia 512 compact_adjacent_exon_block_opportunity local_compact_architecture ABCD1 human_phenotype_ontology_hp_0002064_medgen_c0231687 Spastic gait Human_Phenotype_Ontology:HP:0002064,MedGen:C0231687 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_gait 512 compact_adjacent_exon_block_opportunity local_compact_architecture ABCD1 human_phenotype_ontology_hp_0001954_human_phenotype_ontology_hp_0004903_human_phenotype_ontology_hp_0005962_human_phenotype_ontology_hp_0005966_human_phenotype_ontology_hp_0005980_medgen_c3714772 Recurrent fever Human_Phenotype_Ontology:HP:0001954,Human_Phenotype_Ontology:HP:0004903,Human_Phenotype_Ontology:HP:0005962,Human_Phenotype_Ontology:HP:0005966,Human_Phenotype_Ontology:HP:0005980,MedGen:C3714772 1 1 1.0000 condition_record_support_limited 20 0 1 Recurrent_fever 512 compact_adjacent_exon_block_opportunity local_compact_architecture ABCD1 human_phenotype_ontology_hp_0012819_mondo_mondo_0004496_medgen_c0027059 Myocarditis Human_Phenotype_Ontology:HP:0012819,MONDO:MONDO:0004496,MedGen:C0027059 1 1 1.0000 condition_record_support_limited 20 0 1 Myocarditis 512 compact_adjacent_exon_block_opportunity local_compact_architecture ABCD1 likely_inborn_error_of_metabolism Likely inborn error of metabolism . 1 1 1.0000 condition_record_support_limited 20 0 0 Likely_inborn_error_of_metabolism 512 compact_adjacent_exon_block_opportunity local_compact_architecture ABCD1 medgen_c2711754 History of neurodevelopmental disorder MedGen:C2711754 1 1 1.0000 condition_record_support_limited 20 0 1 History_of_neurodevelopmental_disorder 512 compact_adjacent_exon_block_opportunity local_compact_architecture ABCD1 human_phenotype_ontology_hp_0002572_medgen_c1838993 Episodic vomiting Human_Phenotype_Ontology:HP:0002572,MedGen:C1838993 1 1 1.0000 condition_record_support_limited 20 0 1 Episodic_vomiting 512 compact_adjacent_exon_block_opportunity local_compact_architecture ABCD1 mondo_mondo_0019956_medgen_c0014038_orphanet_97275 Encephalitis MONDO:MONDO:0019956,MedGen:C0014038,Orphanet:97275 1 1 1.0000 condition_record_support_limited 20 0 1 Encephalitis 512 compact_adjacent_exon_block_opportunity local_compact_architecture ABCD1 mondo_mondo_0016002_medgen_c0268342_omim_225400_orphanet_1900 Ehlers-Danlos syndrome, kyphoscoliotic type 1 MONDO:MONDO:0016002,MedGen:C0268342,OMIM:225400,Orphanet:1900 1 1 1.0000 condition_record_support_limited 20 0 1 Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1 512 compact_adjacent_exon_block_opportunity local_compact_architecture ABCD1 human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 0 Abnormality_of_the_nervous_system 512 compact_adjacent_exon_block_opportunity local_compact_architecture ABCC9 human_phenotype_ontology_hp_0001716_mondo_mondo_0008685_medgen_c0043202_omim_194200 Wolff-Parkinson-White pattern Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200 1 1 1.0000 condition_record_support_limited 20 0 0 Wolff-Parkinson-White_pattern 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC9 human_phenotype_ontology_hp_0000215_human_phenotype_ontology_hp_0000231_medgen_c1846423 Thick upper lip vermilion Human_Phenotype_Ontology:HP:0000215,Human_Phenotype_Ontology:HP:0000231,MedGen:C1846423 1 1 1.0000 condition_record_support_limited 20 0 1 Thick_upper_lip_vermilion 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC9 human_phenotype_ontology_hp_0001182_human_phenotype_ontology_hp_0005795_human_phenotype_ontology_hp_0005800_human_phenotype_ontology_hp_0006032_human_phenotype_ontology_hp_0006080_human_phenotype_ontology_hp_0006098_human_phenotype_ontology_hp_0006111_human_phenotype_ontology_hp_0006125_human_phenotype_ontology_hp_0006244_human_phenotype_ontology_hp_0007532_medgen_c0426886 Tapered finger Human_Phenotype_Ontology:HP:0001182,Human_Phenotype_Ontology:HP:0005795,Human_Phenotype_Ontology:HP:0005800,Human_Phenotype_Ontology:HP:0006032,Human_Phenotype_Ontology:HP:0006080,Human_Phenotype_Ontology:HP:0006098,Human_Phenotype_Ontology:HP:0006111,Human_Phenotype_Ontology:HP:0006125,Human_Phenotype_Ontology:HP:0006244,Human_Phenotype_Ontology:HP:0007532,MedGen:C0426886 1 1 1.0000 condition_record_support_limited 20 0 1 Tapered_finger 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC9 human_phenotype_ontology_hp_0001643_mondo_mondo_0011827_medgen_c0013274_omim_ps607411 Patent ductus arteriosus Human_Phenotype_Ontology:HP:0001643,MONDO:MONDO:0011827,MedGen:C0013274,OMIM:PS607411 1 1 1.0000 condition_record_support_limited 20 0 1 Patent_ductus_arteriosus 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC9 human_phenotype_ontology_hp_0000210_human_phenotype_ontology_hp_0000330_human_phenotype_ontology_hp_0000345_human_phenotype_ontology_hp_0000347_human_phenotype_ontology_hp_0002005_human_phenotype_ontology_hp_0002674_human_phenotype_ontology_hp_0004669_human_phenotype_ontology_hp_0005460_human_phenotype_ontology_hp_0005470_medgen_c0025990 Micrognathia Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990 1 1 1.0000 condition_record_support_limited 20 0 1 Micrognathia 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC9 human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC9 human_phenotype_ontology_hp_0000294_medgen_c1842366 Low anterior hairline Human_Phenotype_Ontology:HP:0000294,MedGen:C1842366 1 1 1.0000 condition_record_support_limited 20 0 1 Low_anterior_hairline 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC9 human_phenotype_ontology_hp_0001712_human_phenotype_ontology_hp_0005171_medgen_c0149721 Left ventricular hypertrophy Human_Phenotype_Ontology:HP:0001712,Human_Phenotype_Ontology:HP:0005171,MedGen:C0149721 1 1 1.0000 condition_record_support_limited 20 0 1 Left_ventricular_hypertrophy 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC9 human_phenotype_ontology_hp_0001176_human_phenotype_ontology_hp_0002820_human_phenotype_ontology_hp_0006044_human_phenotype_ontology_hp_0006219_medgen_c0426870 Large hands Human_Phenotype_Ontology:HP:0001176,Human_Phenotype_Ontology:HP:0002820,Human_Phenotype_Ontology:HP:0006044,Human_Phenotype_Ontology:HP:0006219,MedGen:C0426870 1 1 1.0000 condition_record_support_limited 20 0 1 Large_hands 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC9 mondo_mondo_0027407_medgen_c0795833_omim_610253_orphanet_261494 Kleefstra syndrome 1 MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494 1 1 1.0000 condition_record_support_limited 20 0 1 Kleefstra_syndrome_1 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC9 human_phenotype_ontology_hp_0001378_human_phenotype_ontology_hp_0001382_human_phenotype_ontology_hp_0005034_medgen_c1844820 Joint hypermobility Human_Phenotype_Ontology:HP:0001378,Human_Phenotype_Ontology:HP:0001382,Human_Phenotype_Ontology:HP:0005034,MedGen:C1844820 1 1 1.0000 condition_record_support_limited 20 0 1 Joint_hypermobility 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC9 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC9 human_phenotype_ontology_hp_0000286_human_phenotype_ontology_hp_0000624_human_phenotype_ontology_hp_0007930_medgen_c0678230_omim_131500 Epicanthus Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500 1 1 1.0000 condition_record_support_limited 20 0 1 Epicanthus 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC9 human_phenotype_ontology_hp_0000425_human_phenotype_ontology_hp_0000428_human_phenotype_ontology_hp_0000439_human_phenotype_ontology_hp_0000459_human_phenotype_ontology_hp_0004413_human_phenotype_ontology_hp_0004505_human_phenotype_ontology_hp_0004506_human_phenotype_ontology_hp_0004666_human_phenotype_ontology_hp_0005119_human_phenotype_ontology_hp_0005280_human_phenotype_ontology_hp_0005284_medgen_c1836542 Depressed nasal bridge Human_Phenotype_Ontology:HP:0000425,Human_Phenotype_Ontology:HP:0000428,Human_Phenotype_Ontology:HP:0000439,Human_Phenotype_Ontology:HP:0000459,Human_Phenotype_Ontology:HP:0004413,Human_Phenotype_Ontology:HP:0004505,Human_Phenotype_Ontology:HP:0004506,Human_Phenotype_Ontology:HP:0004666,Human_Phenotype_Ontology:HP:0005119,Human_Phenotype_Ontology:HP:0005280,Human_Phenotype_Ontology:HP:0005284,MedGen:C1836542 1 1 1.0000 condition_record_support_limited 20 0 1 Depressed_nasal_bridge 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC9 human_phenotype_ontology_hp_0000280_human_phenotype_ontology_hp_0000281_human_phenotype_ontology_hp_0004640_medgen_c1845847 Coarse facial features Human_Phenotype_Ontology:HP:0000280,Human_Phenotype_Ontology:HP:0000281,Human_Phenotype_Ontology:HP:0004640,MedGen:C1845847 1 1 1.0000 condition_record_support_limited 20 0 1 Coarse_facial_features 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC9 human_phenotype_ontology_hp_0001638_mondo_mondo_0004994_medgen_c0878544_orphanet_167848 Cardiomyopathy Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiomyopathy 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC9 human_phenotype_ontology_hp_0000414_human_phenotype_ontology_hp_0000443_medgen_c0240543 Bulbous nose Human_Phenotype_Ontology:HP:0000414,Human_Phenotype_Ontology:HP:0000443,MedGen:C0240543 1 1 1.0000 condition_record_support_limited 20 0 1 Bulbous_nose 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC9 human_phenotype_ontology_hp_0000271_medgen_c4025871 Abnormality of the face Human_Phenotype_Ontology:HP:0000271,MedGen:C4025871 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_face 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC9 human_phenotype_ontology_hp_0001999_human_phenotype_ontology_hp_0002004_human_phenotype_ontology_hp_0002260_human_phenotype_ontology_hp_0004643_human_phenotype_ontology_hp_0004649_human_phenotype_ontology_hp_0004652_human_phenotype_ontology_hp_0004655_human_phenotype_ontology_hp_0004675_human_phenotype_ontology_hp_0005124_medgen_c0424503 Abnormal facial shape Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_facial_shape 102 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 human_phenotype_ontology_hp_0001422_human_phenotype_ontology_hp_0001518_human_phenotype_ontology_hp_0008849_human_phenotype_ontology_hp_0008919_human_phenotype_ontology_hp_0008927_medgen_c0235991 Small for gestational age Human_Phenotype_Ontology:HP:0001422,Human_Phenotype_Ontology:HP:0001518,Human_Phenotype_Ontology:HP:0008849,Human_Phenotype_Ontology:HP:0008919,Human_Phenotype_Ontology:HP:0008927,MedGen:C0235991 1 1 1.0000 condition_record_support_limited 20 0 1 Small_for_gestational_age 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 human_phenotype_ontology_hp_0001509_human_phenotype_ontology_hp_0003501_human_phenotype_ontology_hp_0003507_human_phenotype_ontology_hp_0003512_human_phenotype_ontology_hp_0003518_human_phenotype_ontology_hp_0003519_human_phenotype_ontology_hp_0004322_human_phenotype_ontology_hp_0008871_human_phenotype_ontology_hp_0008882_human_phenotype_ontology_hp_0008888_human_phenotype_ontology_hp_0008913_medgen_c0349588 Short stature Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588 1 1 1.0000 condition_record_support_limited 20 0 1 Short_stature 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 human_phenotype_ontology_hp_0002643_medgen_c4281993 Neonatal respiratory distress Human_Phenotype_Ontology:HP:0002643,MedGen:C4281993 1 1 1.0000 condition_record_support_limited 20 0 1 Neonatal_respiratory_distress 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 human_phenotype_ontology_hp_0000382_human_phenotype_ontology_hp_0000386_human_phenotype_ontology_hp_0000400_human_phenotype_ontology_hp_0000401_human_phenotype_ontology_hp_0001755_medgen_c0152421 Macrotia Human_Phenotype_Ontology:HP:0000382,Human_Phenotype_Ontology:HP:0000386,Human_Phenotype_Ontology:HP:0000400,Human_Phenotype_Ontology:HP:0000401,Human_Phenotype_Ontology:HP:0001755,MedGen:C0152421 1 1 1.0000 condition_record_support_limited 20 0 1 Macrotia 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 human_phenotype_ontology_hp_0000256_human_phenotype_ontology_hp_0005491_human_phenotype_ontology_hp_0005496_human_phenotype_ontology_hp_0200135_medgen_c2243051 Macrocephaly Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051 1 1 1.0000 condition_record_support_limited 20 0 1 Macrocephaly 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 human_phenotype_ontology_hp_0001943_human_phenotype_ontology_hp_0003356_mondo_mondo_0004946_medgen_c0020615 Hypoglycemia Human_Phenotype_Ontology:HP:0001943,Human_Phenotype_Ontology:HP:0003356,MONDO:MONDO:0004946,MedGen:C0020615 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoglycemia 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 human_phenotype_ontology_hp_0001434_human_phenotype_ontology_hp_0001510_human_phenotype_ontology_hp_0001512_human_phenotype_ontology_hp_0001514_human_phenotype_ontology_hp_0001517_human_phenotype_ontology_hp_0001532_human_phenotype_ontology_hp_0008847_human_phenotype_ontology_hp_0008870_human_phenotype_ontology_hp_0008886_human_phenotype_ontology_hp_0008893_human_phenotype_ontology_hp_0008926_medgen_c0456070 Growth delay Human_Phenotype_Ontology:HP:0001434,Human_Phenotype_Ontology:HP:0001510,Human_Phenotype_Ontology:HP:0001512,Human_Phenotype_Ontology:HP:0001514,Human_Phenotype_Ontology:HP:0001517,Human_Phenotype_Ontology:HP:0001532,Human_Phenotype_Ontology:HP:0008847,Human_Phenotype_Ontology:HP:0008870,Human_Phenotype_Ontology:HP:0008886,Human_Phenotype_Ontology:HP:0008893,Human_Phenotype_Ontology:HP:0008926,MedGen:C0456070 1 1 1.0000 condition_record_support_limited 20 0 1 Growth_delay 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 human_phenotype_ontology_hp_0002020_human_phenotype_ontology_hp_0004793_medgen_c4317146 Gastroesophageal reflux Human_Phenotype_Ontology:HP:0002020,Human_Phenotype_Ontology:HP:0004793,MedGen:C4317146 1 1 1.0000 condition_record_support_limited 20 0 1 Gastroesophageal_reflux 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 human_phenotype_ontology_hp_0011968_medgen_c0232466 Feeding difficulties Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466 1 1 1.0000 condition_record_support_limited 20 0 1 Feeding_difficulties 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 human_phenotype_ontology_hp_0001635_human_phenotype_ontology_hp_0006686_mondo_mondo_0005009_medgen_c0018802 Congestive heart failure Human_Phenotype_Ontology:HP:0001635,Human_Phenotype_Ontology:HP:0006686,MONDO:MONDO:0005009,MedGen:C0018802 1 1 1.0000 condition_record_support_limited 20 0 1 Congestive_heart_failure 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 human_phenotype_ontology_hp_0001693_medgen_c0232180 Cardiac shunt Human_Phenotype_Ontology:HP:0001693,MedGen:C0232180 1 1 1.0000 condition_record_support_limited 20 0 1 Cardiac_shunt 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 mondo_mondo_0017184_medgen_c4274080_orphanet_276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency MONDO:MONDO:0017184,MedGen:C4274080,Orphanet:276575 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_hyperinsulinism_due_to_SUR1_deficiency 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 human_phenotype_ontology_hp_0001630_human_phenotype_ontology_hp_0001631_mondo_mondo_0006664_medgen_c0018817_omim_ps108800_orphanet_1478 Atrial septal defect Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478 1 1 1.0000 condition_record_support_limited 20 0 1 Atrial_septal_defect 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC8 abcc8_related_channelopathies ABCC8-related channelopathies . 1 1 1.0000 condition_record_support_limited 20 0 1 ABCC8-related_channelopathies 476 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC6 human_phenotype_ontology_hp_0200034_medgen_c0332563 Papule Human_Phenotype_Ontology:HP:0200034,MedGen:C0332563 1 1 1.0000 condition_record_support_limited 20 0 1 Papule 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC6 human_phenotype_ontology_hp_0000648_human_phenotype_ontology_hp_0007751_human_phenotype_ontology_hp_0007855_mondo_mondo_0003608_medgen_c0029124 Optic atrophy Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124 1 1 1.0000 condition_record_support_limited 20 0 1 Optic_atrophy 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC6 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC6 human_phenotype_ontology_hp_0000973_mondo_mondo_0016175_medgen_c0010495_orphanet_209 Cutis laxa Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209 1 1 1.0000 condition_record_support_limited 20 0 1 Cutis_laxa 296 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC2 mondo_mondo_0009925_medgen_cn032334_omim_264800_orphanet_758 Autosomal recessive inherited pseudoxanthoma elasticum MONDO:MONDO:0009925,MedGen:CN032334,OMIM:264800,Orphanet:758 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_inherited_pseudoxanthoma_elasticum 189 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCC1 mondo_mondo_0030058_medgen_c5394499_omim_618915 Hearing loss, autosomal dominant 77 MONDO:MONDO:0030058,MedGen:C5394499,OMIM:618915 1 1 1.0000 condition_record_support_limited 20 0 0 Hearing_loss,_autosomal_dominant_77 1 low_record_burden_interpretation_limited low_record_burden_gene ABCB7 spinocerebellar_ataxia_x_linked Spinocerebellar ataxia, X-linked . 1 1 1.0000 condition_record_support_limited 20 0 1 Spinocerebellar_ataxia,_X-linked 10 low_record_burden_interpretation_limited low_record_burden_gene ABCB7 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 10 low_record_burden_interpretation_limited low_record_burden_gene ABCB6 medgen_c3276339_omim_111600 Langereis blood group MedGen:C3276339,OMIM:111600 1 1 1.0000 condition_record_support_limited 20 0 1 Langereis_blood_group 10 low_record_burden_interpretation_limited low_record_burden_gene ABCB6 abcb6_related_disorder ABCB6-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ABCB6-related_disorder 10 low_record_burden_interpretation_limited low_record_burden_gene ABCB4 human_phenotype_ontology_hp_0001406_mondo_mondo_0019072_medgen_c0008372 Intrahepatic cholestasis Human_Phenotype_Ontology:HP:0001406,MONDO:MONDO:0019072,MedGen:C0008372 1 1 1.0000 condition_record_support_limited 20 0 0 Intrahepatic_cholestasis 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB4 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB4 autosomal_recessive_abcb4_related_disorders Autosomal recessive ABCB4-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_recessive_ABCB4-related_disorders 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB4 abcb4_related_intrahepatic_cholestasis ABCB4-Related Intrahepatic Cholestasis . 1 1 1.0000 condition_record_support_limited 20 0 1 ABCB4-Related_Intrahepatic_Cholestasis 164 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB11 human_phenotype_ontology_hp_0000989_medgen_c0033774 Pruritus Human_Phenotype_Ontology:HP:0000989,MedGen:C0033774 1 1 1.0000 condition_record_support_limited 20 0 1 Pruritus 318 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB11 mondo_mondo_0011214_medgen_c1865643_omim_602347_orphanet_79305 Progressive familial intrahepatic cholestasis type 3 MONDO:MONDO:0011214,MedGen:C1865643,OMIM:602347,Orphanet:79305 1 1 1.0000 condition_record_support_limited 20 0 1 Progressive_familial_intrahepatic_cholestasis_type_3 318 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB11 human_phenotype_ontology_hp_0001406_mondo_mondo_0019072_medgen_c0008372 Intrahepatic cholestasis Human_Phenotype_Ontology:HP:0001406,MONDO:MONDO:0019072,MedGen:C0008372 1 1 1.0000 condition_record_support_limited 20 0 1 Intrahepatic_cholestasis 318 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB11 mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 318 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB11 mondo_mondo_0014381_medgen_c2931067_omim_615878_orphanet_480483_orphanet_79304 Cholestasis, progressive familial intrahepatic, 4 MONDO:MONDO:0014381,MedGen:C2931067,OMIM:615878,Orphanet:480483,Orphanet:79304 1 1 1.0000 condition_record_support_limited 20 0 1 Cholestasis,_progressive_familial_intrahepatic,_4 318 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB11 human_phenotype_ontology_hp_0200148_medgen_c4021883 Abnormal liver function tests during pregnancy Human_Phenotype_Ontology:HP:0200148,MedGen:C4021883 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_liver_function_tests_during_pregnancy 318 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABCB1 mondo_mondo_0005579_medgen_c0270850_omim_600669_omim_ps600669 Idiopathic generalized epilepsy MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669 1 1 1.0000 condition_record_support_limited 20 0 0 Idiopathic_generalized_epilepsy 4 low_record_burden_interpretation_limited low_record_burden_gene ABCB1 medgen_c1861502_omim_120080 COLCHICINE RESISTANCE MedGen:C1861502,OMIM:120080 1 1 1.0000 condition_record_support_limited 20 0 0 COLCHICINE_RESISTANCE 4 low_record_burden_interpretation_limited low_record_burden_gene ABCA8 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 1 low_record_burden_interpretation_limited low_record_burden_gene ABCA5 condition_not_provided condition not provided . 1 1 1.0000 condition_record_support_limited 20 1 0 See_cases 5 low_record_burden_interpretation_limited low_record_burden_gene ABCA5 mondo_mondo_0007750_medgen_c0745103_omim_143890_orphanet_391665 Hypercholesterolemia, familial, 1 MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665 1 1 1.0000 condition_record_support_limited 20 0 0 Hypercholesterolemia,_familial,_1 5 low_record_burden_interpretation_limited low_record_burden_gene ABCA4 human_phenotype_ontology_hp_0000655_human_phenotype_ontology_hp_0007773_mondo_mondo_0020248_medgen_c0344290 Vitreoretinopathy Human_Phenotype_Ontology:HP:0000655,Human_Phenotype_Ontology:HP:0007773,MONDO:MONDO:0020248,MedGen:C0344290 1 1 1.0000 condition_record_support_limited 20 0 1 Vitreoretinopathy 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 human_phenotype_ontology_hp_0000572_medgen_c3665386 Visual loss Human_Phenotype_Ontology:HP:0000572,MedGen:C3665386 1 1 1.0000 condition_record_support_limited 20 0 1 Visual_loss 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 medgen_c5680332_orphanet_98661 Syndromic retinitis pigmentosa MedGen:C5680332,Orphanet:98661 1 1 1.0000 condition_record_support_limited 20 0 1 Syndromic_retinitis_pigmentosa 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 human_phenotype_ontology_hp_0003157_human_phenotype_ontology_hp_0003407_human_phenotype_ontology_hp_0007088_human_phenotype_ontology_hp_0007235_human_phenotype_ontology_hp_0007355_human_phenotype_ontology_hp_0009830_mondo_mondo_0005244_medgen_c0031117 Peripheral neuropathy Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117 1 1 1.0000 condition_record_support_limited 20 0 1 Peripheral_neuropathy 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 mondo_mondo_0009559_medgen_c4692584_omim_248400 Mandibulofacial dysostosis with mental deficiency MONDO:MONDO:0009559,MedGen:C4692584,OMIM:248400 1 1 1.0000 condition_record_support_limited 20 0 1 Mandibulofacial_dysostosis_with_mental_deficiency 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 mondo_mondo_0013231_medgen_c2750063_omim_613341 Leber congenital amaurosis 14 MONDO:MONDO:0013231,MedGen:C2750063,OMIM:613341 1 1 1.0000 condition_record_support_limited 20 0 1 Leber_congenital_amaurosis_14 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 cone_dystrophy_and_rod_monochromatism Cone dystrophy and rod monochromatism . 1 1 1.0000 condition_record_support_limited 20 0 1 Cone_dystrophy_and_rod_monochromatism 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 human_phenotype_ontology_hp_0000618_human_phenotype_ontology_hp_0007839_mondo_mondo_0001941_medgen_c0456909 Blindness Human_Phenotype_Ontology:HP:0000618,Human_Phenotype_Ontology:HP:0007839,MONDO:MONDO:0001941,MedGen:C0456909 1 1 1.0000 condition_record_support_limited 20 0 1 Blindness 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 mondo_mondo_0008865_medgen_c1859486_omim_210370_orphanet_41751 Bietti crystalline corneoretinal dystrophy MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370,Orphanet:41751 1 1 1.0000 condition_record_support_limited 20 0 1 Bietti_crystalline_corneoretinal_dystrophy 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 mondo_mondo_0005150_medgen_c0242383_omim_ps603075 Age-related macular degeneration MONDO:MONDO:0005150,MedGen:C0242383,OMIM:PS603075 1 1 1.0000 condition_record_support_limited 20 0 1 Age-related_macular_degeneration 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 human_phenotype_ontology_hp_0000479_human_phenotype_ontology_hp_0007901_human_phenotype_ontology_hp_0007938_medgen_c0035300 Abnormal retinal morphology Human_Phenotype_Ontology:HP:0000479,Human_Phenotype_Ontology:HP:0007901,Human_Phenotype_Ontology:HP:0007938,MedGen:C0035300 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_retinal_morphology 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA4 human_phenotype_ontology_hp_0001103_medgen_c4520679 Abnormal macular morphology Human_Phenotype_Ontology:HP:0001103,MedGen:C4520679 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormal_macular_morphology 1464 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA3 mondo_mondo_0018954_medgen_c2697932_omim_ps609192_orphanet_60030 Loeys-Dietz syndrome MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030 1 1 1.0000 condition_record_support_limited 20 0 1 Loeys-Dietz_syndrome 135 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ABCA3 mondo_mondo_0009376_medgen_c4082171_omim_237300_orphanet_147 Congenital hyperammonemia, type I MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147 1 1 1.0000 condition_record_support_limited 20 0 1 Congenital_hyperammonemia,_type_I 135 high_coverage_downstream_CDS_but_donor_or_context_burden boundary_CDS_payload_architecture ABCA2 ataxia_with_dysarthria Ataxia with Dysarthria . 1 1 1.0000 condition_record_support_limited 20 0 1 Ataxia_with_Dysarthria 14 low_record_burden_interpretation_limited low_record_burden_gene ABCA13 condition_not_provided condition not provided MedGen:CN517202 1 1 1.0000 condition_record_support_limited 20 1 0 not_provided 4 low_record_burden_interpretation_limited low_record_burden_gene ABCA13 human_phenotype_ontology_hp_0100753_mondo_mondo_0005090_mesh_d012559_medgen_c0036341_omim_181500 Schizophrenia Human_Phenotype_Ontology:HP:0100753,MONDO:MONDO:0005090,MeSH:D012559,MedGen:C0036341,OMIM:181500 1 1 1.0000 condition_record_support_limited 20 0 0 Schizophrenia 4 low_record_burden_interpretation_limited low_record_burden_gene ABCA12 ichthyosis_and_erythrokeratoderma Ichthyosis and erythrokeratoderma . 1 1 1.0000 condition_record_support_limited 20 0 1 Ichthyosis_and_erythrokeratoderma 206 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA12 human_phenotype_ontology_hp_0000951_human_phenotype_ontology_hp_0001478_human_phenotype_ontology_hp_0001479_human_phenotype_ontology_hp_0005591_human_phenotype_ontology_hp_0006736_human_phenotype_ontology_hp_0007415_human_phenotype_ontology_hp_0007580_medgen_c5848159 Abnormality of the skin Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_skin 206 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA1 tangier_disease_variant Tangier disease, variant . 1 1 1.0000 condition_record_support_limited 20 0 0 Tangier_disease,_variant 76 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA1 mondo_mondo_0018975_medgen_c0027831_omim_162200_orphanet_636 Neurofibromatosis, type 1 MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200,Orphanet:636 1 1 1.0000 condition_record_support_limited 20 0 1 Neurofibromatosis,_type_1 76 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA1 medgen_c1704429 Familial hypoalphalipoproteinemia MedGen:C1704429 1 1 1.0000 condition_record_support_limited 20 0 1 Familial_hypoalphalipoproteinemia 76 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA1 medgen_c4229399 Early-onset coronary artery disease MedGen:C4229399 1 1 1.0000 condition_record_support_limited 20 0 0 Early-onset_coronary_artery_disease 76 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA1 human_phenotype_ontology_hp_0003233_mondo_mondo_0017773_medgen_c0151691_orphanet_31153 Decreased HDL cholesterol concentration Human_Phenotype_Ontology:HP:0003233,MONDO:MONDO:0017773,MedGen:C0151691,Orphanet:31153 1 1 1.0000 condition_record_support_limited 20 0 1 Decreased_HDL_cholesterol_concentration 76 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA1 autosomal_dominant_and_autosomal_recessive_abca1_related_disorders Autosomal dominant and autosomal recessive ABCA1-related disorders . 1 1 1.0000 condition_record_support_limited 20 0 1 Autosomal_dominant_and_autosomal_recessive_ABCA1-related_disorders 76 large_gene_or_donor_burden_stress_case donor_burden_stress ABCA1 abca1_related_dyslipidemia ABCA1-related dyslipidemia . 1 1 1.0000 condition_record_support_limited 20 0 0 ABCA1-related_dyslipidemia 76 large_gene_or_donor_burden_stress_case donor_burden_stress ABAT mesh_d030342_medgen_c0950123 Inborn genetic diseases MeSH:D030342,MedGen:C0950123 1 1 1.0000 condition_record_support_limited 20 0 1 Inborn_genetic_diseases 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture ABAT abat_related_disorder ABAT-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 ABAT-related_disorder 39 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AARS2 mondo_mondo_0044970_mesh_d028361_medgen_c0751651_orphanet_68380 Mitochondrial disease MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380 1 1 1.0000 condition_record_support_limited 20 0 1 Mitochondrial_disease 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AARS2 human_phenotype_ontology_hp_0003324_human_phenotype_ontology_hp_0003686_human_phenotype_ontology_hp_0003723_medgen_c0746674 Generalized muscle weakness Human_Phenotype_Ontology:HP:0003324,Human_Phenotype_Ontology:HP:0003686,Human_Phenotype_Ontology:HP:0003723,MedGen:C0746674 1 1 1.0000 condition_record_support_limited 20 0 1 Generalized_muscle_weakness 71 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AARS1 hereditary_neuropathy_or_pain_disorder Hereditary neuropathy or pain disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_neuropathy_or_pain_disorder 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AARS1 mondo_mondo_0030796_medgen_c3711381_omim_ps221820_orphanet_313808 Hereditary diffuse leukoencephalopathy with spheroids MONDO:MONDO:0030796,MedGen:C3711381,OMIM:PS221820,Orphanet:313808 1 1 1.0000 condition_record_support_limited 20 0 1 Hereditary_diffuse_leukoencephalopathy_with_spheroids 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AARS1 aars1_related_disorder AARS1-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 1 AARS1-related_disorder 83 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AAR2 human_phenotype_ontology_hp_0001629_human_phenotype_ontology_hp_0001652_mondo_mondo_0002070_medgen_c0018818_omim_ps614429 Ventricular septal defect Human_Phenotype_Ontology:HP:0001629,Human_Phenotype_Ontology:HP:0001652,MONDO:MONDO:0002070,MedGen:C0018818,OMIM:PS614429 1 1 1.0000 condition_record_support_limited 20 0 1 Ventricular_septal_defect 1 low_record_burden_interpretation_limited low_record_burden_gene AAR2 human_phenotype_ontology_hp_0001655_mondo_mondo_0020439_medgen_c0016522 Patent foramen ovale Human_Phenotype_Ontology:HP:0001655,MONDO:MONDO:0020439,MedGen:C0016522 1 1 1.0000 condition_record_support_limited 20 0 1 Patent_foramen_ovale 1 low_record_burden_interpretation_limited low_record_burden_gene AAR2 human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 1 low_record_burden_interpretation_limited low_record_burden_gene AAR2 human_phenotype_ontology_hp_0012733_medgen_c0332573 Macule Human_Phenotype_Ontology:HP:0012733,MedGen:C0332573 1 1 1.0000 condition_record_support_limited 20 0 1 Macule 1 low_record_burden_interpretation_limited low_record_burden_gene AAR2 human_phenotype_ontology_hp_0002079_human_phenotype_ontology_hp_0002319_human_phenotype_ontology_hp_0007026_medgen_c0344482 Hypoplasia of the corpus callosum Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482 1 1 1.0000 condition_record_support_limited 20 0 1 Hypoplasia_of_the_corpus_callosum 1 low_record_burden_interpretation_limited low_record_burden_gene AAR2 human_phenotype_ontology_hp_0000754_human_phenotype_ontology_hp_0001255_human_phenotype_ontology_hp_0001263_human_phenotype_ontology_hp_0001277_human_phenotype_ontology_hp_0001292_human_phenotype_ontology_hp_0002433_human_phenotype_ontology_hp_0002473_human_phenotype_ontology_hp_0002532_human_phenotype_ontology_hp_0006793_human_phenotype_ontology_hp_0006867_human_phenotype_ontology_hp_0006885_human_phenotype_ontology_hp_0006935_human_phenotype_ontology_hp_0007005_human_phenotype_ontology_hp_0007094_human_phenotype_ontology_hp_0007106_human_phenotype_ontology_hp_0007174_human_phenotype_ontology_hp_0007224_human_phenotype_ontology_hp_0007228_human_phenotype_ontology_hp_0007342_human_phenotype_ontology_hp_0025356_medgen_c0557874 Global developmental delay Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874 1 1 1.0000 condition_record_support_limited 20 0 1 Global_developmental_delay 1 low_record_burden_interpretation_limited low_record_burden_gene AAR2 human_phenotype_ontology_hp_0002438_medgen_c4025708_orphanet_182061 Cerebellar malformation Human_Phenotype_Ontology:HP:0002438,MedGen:C4025708,Orphanet:182061 1 1 1.0000 condition_record_support_limited 20 0 1 Cerebellar_malformation 1 low_record_burden_interpretation_limited low_record_burden_gene AAR2 human_phenotype_ontology_hp_0001545_medgen_c1838705 Anteriorly placed anus Human_Phenotype_Ontology:HP:0001545,MedGen:C1838705 1 1 1.0000 condition_record_support_limited 20 0 1 Anteriorly_placed_anus 1 low_record_burden_interpretation_limited low_record_burden_gene AAGAB human_phenotype_ontology_hp_0000982_medgen_c4551675 Palmoplantar keratoderma Human_Phenotype_Ontology:HP:0000982,MedGen:C4551675 1 1 1.0000 condition_record_support_limited 20 0 0 Palmoplantar_keratoderma 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AAGAB human_phenotype_ontology_hp_0100568_mondo_mondo_0002082_medgen_c0014132_orphanet_182130 Neoplasm of the endocrine system Human_Phenotype_Ontology:HP:0100568,MONDO:MONDO:0002082,MedGen:C0014132,Orphanet:182130 1 1 1.0000 condition_record_support_limited 20 0 0 Neoplasm_of_the_endocrine_system 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AAGAB aagab_related_disorder AAGAB-related disorder . 1 1 1.0000 condition_record_support_limited 20 0 0 AAGAB-related_disorder 21 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AAAS human_phenotype_ontology_hp_0002313_human_phenotype_ontology_hp_0007191_medgen_c0037771 Spastic paraparesis Human_Phenotype_Ontology:HP:0002313,Human_Phenotype_Ontology:HP:0007191,MedGen:C0037771 1 1 1.0000 condition_record_support_limited 20 0 1 Spastic_paraparesis 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AAAS mondo_mondo_0700092_mesh_d065886_medgen_c1535926 Neurodevelopmental disorder MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 1 1 1.0000 condition_record_support_limited 20 0 1 Neurodevelopmental_disorder 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AAAS human_phenotype_ontology_hp_0000252_human_phenotype_ontology_hp_0001366_human_phenotype_ontology_hp_0005485_human_phenotype_ontology_hp_0005489_human_phenotype_ontology_hp_0005497_mondo_mondo_0001149_medgen_c4551563 Microcephaly Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563 1 1 1.0000 condition_record_support_limited 20 0 1 Microcephaly 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AAAS human_phenotype_ontology_hp_0001282_human_phenotype_ontology_hp_0001347_human_phenotype_ontology_hp_0006820_human_phenotype_ontology_hp_0007184_human_phenotype_ontology_hp_0007318_mondo_mondo_0007774_medgen_c0151889_omim_145290 Hyperreflexia Human_Phenotype_Ontology:HP:0001282,Human_Phenotype_Ontology:HP:0001347,Human_Phenotype_Ontology:HP:0006820,Human_Phenotype_Ontology:HP:0007184,Human_Phenotype_Ontology:HP:0007318,MONDO:MONDO:0007774,MedGen:C0151889,OMIM:145290 1 1 1.0000 condition_record_support_limited 20 0 1 Hyperreflexia 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AAAS human_phenotype_ontology_hp_0001352_human_phenotype_ontology_hp_0003487_medgen_c0034935 Babinski sign Human_Phenotype_Ontology:HP:0001352,Human_Phenotype_Ontology:HP:0003487,MedGen:C0034935 1 1 1.0000 condition_record_support_limited 20 0 1 Babinski_sign 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture AAAS human_phenotype_ontology_hp_0000707_human_phenotype_ontology_hp_0001333_human_phenotype_ontology_hp_0006987_mondo_mondo_0002320_medgen_c0497552 Abnormality of the nervous system Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552 1 1 1.0000 condition_record_support_limited 20 0 1 Abnormality_of_the_nervous_system 103 compact_boundary_CDS_coverage_opportunity boundary_CDS_payload_architecture A4GALT medgen_c3549486 NOR polyagglutination syndrome MedGen:C3549486 1 1 1.0000 condition_record_support_limited 20 0 0 NOR_polyagglutination_syndrome 1 low_record_burden_interpretation_limited low_record_burden_gene A2ML1 mondo_mondo_0008162_medgen_c1833692_omim_166760 Otitis media, susceptibility to MONDO:MONDO:0008162,MedGen:C1833692,OMIM:166760 1 1 1.0000 condition_record_support_limited 20 0 1 Otitis_media,_susceptibility_to 1 low_record_burden_interpretation_limited low_record_burden_gene A2ML1 human_phenotype_ontology_hp_0000388_mondo_mondo_0005441_medgen_c0029882 Otitis media Human_Phenotype_Ontology:HP:0000388,MONDO:MONDO:0005441,MedGen:C0029882 1 1 1.0000 condition_record_support_limited 20 0 1 Otitis_media 1 low_record_burden_interpretation_limited low_record_burden_gene